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Sample records for equina syndrome presentation

  1. Cauda equina syndrome presentation of sacral insufficiency fractures

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    Muthukumar, T.; Butt, S.H.; Cassar-Pullicino, V.N.; McCall, I.W. [The Robert Jones and Agnes Hunt Orthopaedic Hospital, Department of Radiology, Oswestry, Shropshire (United Kingdom)

    2007-04-15

    Sacral insufficiency fractures are a well recognised cause for low back, buttock and groin pain in the elderly. However, over a 4 year period, four patients have presented with symptoms of cauda equina syndrome, who were found on investigation to have acute sacral insufficiency fracture without any other aetiological spinal abnormality. Four patients who presented to the spinal surgeons of our institution with symptoms of cauda equina syndrome were referred for spinal MR. Sagittal and axial T1 and T2 weighted turbo spin echo sequences of the lower thoracic and lumbar spine were performed on all patients. Subsequent studies included MR of the sacrum supplemented where appropriate by CT and technetium MDP bone scintigraphy. No evidence of a compressive lesion of the lower thoracic or lumbar spine was present in any of the four patients. Dedicated MR examination of the sacrum in these patients revealed unilateral acute insufficiency fractures involving zone 1 from S1 to S3 extending from the sacro-iliac joint to the lateral margin of the sacral foramen. There was no evidence of compression of the sacral nerve roots. The possible mechanism for the symptomatic presentation is discussed. Sacral insufficiency fractures should be excluded in elderly or osteoporotic patients presenting with cauda equina syndrome who have no evidence of compression in the thoraco-lumbar MR studies. (orig.)

  2. Cauda equina syndrome presenting as abdominal pain: a case report.

    LENUS (Irish Health Repository)

    Ellanti, Prasad

    2012-09-01

    Cauda equina syndrome (CES) is an uncommon entity. Symptoms include bowel and bladder dysfunction, saddle anesthesia, and varying degrees of lower limb motor and sensory disturbances. The consequences of delayed diagnosis can be devastating, resulting in bowel and bladder incontinence and lower limb paralysis. There is little in literature regarding abdominal pain as a significant feature of the initial presentation of CES. We present the case of a 32-year-old woman with CES who presented to the emergency department with gradually worsening lower abdominal pain.

  3. Gitelman's syndrome: a rare presentation mimicking cauda equina syndrome.

    LENUS (Irish Health Repository)

    Quinlan, C S

    2012-02-01

    We describe a case of bilateral weakness of the lower limbs, sensory disturbance and intermittent urinary incontinence, secondary to untreated Gitelman\\'s syndrome, in a 42-year-old female who was referred with presumed cauda equina syndrome. On examination, the power of both legs was uniformly reduced, and the perianal and lower-limb sensation was altered. However, MRI of the lumbar spine was normal. Measurements of serum and urinary potassium were low and blood gas analysis revealed metabolic alkalosis. Her symptoms resolved following potassium replacement. We emphasise the importance of measurement of the plasma and urinary levels of electrolytes in the investigation of patients with paralysis of the lower limbs and suggest that they, together with blood gas analysis, allow the exclusion of unusual causes of muscle weakness resulting from metabolic disorders such as metabolic alkalosis.

  4. Cauda equina syndrome as the initial presenting clinical feature of medulloblastoma: a case report

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    Al-Otaibi Faisal

    2012-05-01

    Full Text Available Abstract Introduction Medulloblastoma is one of the most common pediatric brain malignancies. The usual presenting clinical features are related to posterior fossa syndrome or/and hydrocephalus. Cauda equina syndrome is a very rare presentation for this disease. Case presentation We describe the case of a three-year-old boy with cauda equina syndrome as the initial presenting clinical feature for medulloblastoma. He was initially diagnosed as having a spinal tumor by magnetic resonance imaging scan. Subsequently, a cranial magnetic resonance imaging scan revealed a posterior fossa tumor with features of dissemination. He had substantial improvement after treatment. This case report is complemented by a literature review related to this unusual presentation. Conclusions Medulloblastoma primarily presenting with cauda equina syndrome is very rare. However, spinal drop metastasis should be considered in the pediatric age group to avoid suboptimal management.

  5. Postoperative spinal adhesive arachnoiditis presenting with hydrocephalus and cauda equina syndrome.

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    Koerts, Guus; Rooijakkers, Herbert; Abu-Serieh, Basel; Cosnard, Guy; Raftopoulos, Christian

    2008-02-01

    To our knowledge, the association between hydrocephalus and postoperative spinal adhesive arachnoiditis (SAA) has never been reported. Herein we describe an unusual case of a 45-year-old man with spinal adhesive arachnoiditis (SAA) who developed delayed-onset hypertensive hydrocephalus and cauda equina syndrome (CES) after multiple low-back surgeries. The patient's clinical presentation, imaging findings, surgical management, and the possible mechanisms are discussed in the light of the present literature.

  6. Cauda Equina Syndrome Secondary to Complicated Diverticulitis

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    M. ter Horst

    2013-10-01

    Full Text Available A 58-year-old woman presented to the emergency department with cauda equina syndrome and sepsis. The symptoms were attributed to a complicated episode of sigmoid diverticulitis. MRI showed that the diverticulitis had caused an intra-abdominal fistula to a presacrally localized abscess expanding into the spinal canal, compressing the cauda equina nerves. Although Hartmann's procedure was performed, the neurological symptoms persisted, causing the patient to remain partially paraplegic. This case report illustrates that cauda equina syndrome is a condition that can also be caused by intra-abdominal pathology such as diverticulitis.

  7. Cauda equina syndrome: a literature review of its definition and clinical presentation.

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    Fraser, Stuart; Roberts, Lisa; Murphy, Eve

    2009-11-01

    To review the current evidence for the signs and symptoms of cauda equina syndrome (CES). Relevant literature sourced through Medline, Embase, and CINAHL using the key search words "cauda equina syndrome" combined with "definition," "clinical presentation," "signs and symptoms," "pathology," and "etiology." Not applicable. Not applicable. Three reviewers independently extracted data on CES from the literature specific to its definition, clinical presentation, and etiology. Of 111 articles, 105 were included for review, and relevant information on CES was synthesized into a framework structured as per a clinical consultation. A content analysis was then conducted using the method adopted by the Chartered Society of Physiotherapy whereby the level of consensus for each sign and symptom of CES was determined by its percentage coverage within the literature: 100% coverage equals unanimity, 75% to 99% equals consensus, 51% to 74% equals majority view, and 0% to 50% equals no consensus. This enabled the frequency of each reported sign and symptom to be ranked. Articles that included specific definitions for CES were divided into 3 categories: those that (1) included generalized statements, (2) stated a pathomechanical basis, and (3) defined the syndrome by its clinical presentation. Throughout this review, the frequencies of specific etiologies and pathologies were noted. Together with details of clinical presentation, this enabled a comprehensive review of CES. No single aspect of CES within the literature achieved unanimity or consensus; however, a majority view indicated that there would be bladder and sensory disturbance (74% and 66% of all articles, respectively). The most commonly cited pathology resulting in CES was identified as the disk (45% of all articles reviewed). There are marked inconsistencies in the current evidence base surrounding the etiology and clinical presentation of CES, with 17 definitions identified. Subclassifications of the definition of CES

  8. Disorders of the cauda equina.

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    Tarulli, Andrew W

    2015-02-01

    Cauda equina syndrome is an important neurologic disorder characterized by lower back pain, sciatica, perineal numbness, and sphincter dysfunction. This article reviews the anatomy, clinical presentation, evaluation, and treatment of cauda equina dysfunction, focusing on diskogenic cauda equina syndrome. Assessment of suspected cauda equina syndrome is hampered by modest diagnostic accuracy of any one clinical feature. Although urgent operation for diskogenic cauda equina syndrome is standard practice, most data about timing of intervention comes from small case series; however, randomized trials are very unlikely given the ethical implications of delaying surgical intervention. In the absence of high-quality data indicating otherwise, urgent evaluation and intervention are required for diskogenic cauda equina syndrome. Other etiologies of cauda equina dysfunction including neoplastic, infectious, and iatrogenic causes must also be considered, especially in the setting of normal neuroimaging studies.

  9. The cauda equina syndrome in pregnant woman with a massive disc herniation.

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    Antón Capitán, B; Malillos Torán, M

    Low back pain during pregnancy is a common cause of medical consultation. Although back pain is very common, the incidence of low back pain secondary to lumbar disk herniation in pregnancy is low (1: 10,000). Cauda equina syndrome from lumbar disk herniation is a serious complication. The delay in diagnosis and treatment can be a cause of chronic disability secondary to neurological sequelae. Numerous cases of disk herniation in pregnancy have been reported, however the association of a cauda equina syndrome as a result of disk herniation is rare. A case is presented of cauda equina syndrome in a pregnant woman at 12-week gestation. Copyright © 2015 SECOT. Publicado por Elsevier España, S.L.U. All rights reserved.

  10. Cauda equina syndrome resulting from lumbar arachnoiditis after intracranial subarachnoid hemorrhage: a case report.

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    Whetstone, Kirk E; Crane, Deborah A

    2013-06-01

    Spinal arachnoiditis is a known but very rare late complication of subarachnoid hemorrhage (SAH). Since 1943, 17 cases of spinal arachnoiditis after intracranial hemorrhage have been reported internationally. The vast majority of these cases were related to aneurysmal SAH. All previously published cases have involved spinal arachnoiditis at the cervical and thoracic levels. In this report, we present an adult woman with lumbar spinal arachnoiditis causing cauda equina syndrome as a result of posterior circulation aneurysmal SAH. We believe this is the first reported case of this specific condition causing cauda equina syndrome. Copyright © 2013 American Academy of Physical Medicine and Rehabilitation. Published by Elsevier Inc. All rights reserved.

  11. Review of medicolegal cases for cauda equina syndrome: what factors lead to an adverse outcome for the provider?

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    Daniels, Eldra W; Gordon, Zachary; French, Keisha; Ahn, Uri M; Ahn, Nicholas U

    2012-03-07

    Cauda equina syndrome is 1 of a few true surgical emergencies involving the lumbar spine. Although treatment within 48 hours has been found to correlate with improved outcomes, recovery of bowel and bladder control does not always occur, and loss of these functions can be distressing to patients. An understanding of factors affecting the legal outcome can aid the clinician in determining risk management for medicolegal cases of cauda equina syndrome. This study is a retrospective analysis of medicolegal cases involving cauda equina syndrome. The LexisNexis Academic legal search database was used to obtain medicolegal cases of cauda equina syndrome to determine risk factors for adverse decisions for the provider. Outcomes data on trial verdicts were collected, as were associated penalties. Case data were also compiled on age, sex, initial presentation site, initial diagnosis, whether a rectal examination was performed, time to consultation with a specialist, time to completion of advanced imaging study, time to surgery, and neurosurgical vs orthopedic consultation. Based on our study of court cases involving cauda equina syndrome, a positive association was found between time to surgery >48 hours and an adverse decision (P<.05). The actual degree of functional loss did not appear to affect the verdicts. Because 26.7% of the cases involved an initial presentation that included loss of bowel or bladder control, this study emphasizes the importance of cautioning all patients with spinal complaints of the potential risk for cauda equina syndrome. Copyright 2012, SLACK Incorporated.

  12. Cauda equina syndrome: evaluation of the clinical outcome.

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    Tamburrelli, F C; Genitiempo, M; Bochicchio, M; Donisi, L; Ratto, C

    2014-01-01

    Cauda equina syndrome is a rare but highly impairing syndrome involving lower limbs as well as urinary, defecatory and sexual function. In the literature the most investigated sphincter dysfunction is the urinary. Bowel and sexual function are often overlooked since they become more relevant after the acute phase. Eight consecutive male patients affected by cauda equina syndrome with sphincter dysfunction due to herniated disc disease of lumbar spine were treated between 2007 and 2009. Five patients were followed-up for at least two years. Sexual function was evaluated by IIEF-5 questionnaire; bowel function was investigated by means of clinical and instrumental investigation and manometry. Although little clinical improved, patients still complained severe symptoms at first year follow-up while all but one improved significantly in the following year. At two years follow-up only the patient whose cauda equina syndrome was misdiagnosed and surgically treated late respect to the onset of the syndrome, complained a persistent severe sexual and bowel dysfunction. Our results show that a long-term follow-up is mandatory to evaluate the real outcome of surgical managed cauda equine syndrome because short-term evaluation could be misleading about the residual capacity of late neurologic improving. Despite the relatively low number of cases evaluated, our results confirm that early diagnosing and treating the syndrome are relevant for the final outcome.

  13. Cauda Equina Syndrome Secondary to Leptomeningeal Carcinomatosis of Gastroesophageal Junction Cancer

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    Amal Alkhotani

    2016-04-01

    Full Text Available Leptomeningeal carcinomatosis (LMC is a diffuse or multifocal malignant infiltration of the pia matter and arachnoid membrane. The most commonly reported cancers associated with LMC are breast, lung, and hematological malignancies. Patients with LMC commonly present with multifocal neurological symptoms. We report a case of LMC secondary to gastroesophageal junction cancer present initially with cauda equina syndrome. A 51-year-old male patient with treated adenocarcinoma of the gastroesophageal junction presented with left leg pain, mild weakness, and saddle area numbness. Initial radiological examinations were unremarkable. Subsequently, he had worsening of his leg weakness, fecal incontinence, and urine retention. Two days later, he developed rapidly progressive cranial neuropathies including facial diplegia, sensorineural hearing loss, dysarthria, and dysphagia. MRI with and without contrast showed diffuse enhancement of leptomeninges surrounding the brain, spinal cord, and cauda equina extending to the nerve roots. Cerebrospinal fluid cytology was positive for malignant cells. The patient died within 10 days from the second presentation. In cancer patients with cauda equina syndrome and absence of structural lesion on imaging, LMC should be considered. To our knowledge, this is the first case of LMC secondary to gastroesophageal cancer presenting with cauda equina syndrome.

  14. Definitions of traumatic conus medullaris and cauda equina syndrome: a systematic literature review

    NARCIS (Netherlands)

    Brouwers, E.M.; Meent, H. van de; Curt, A.; Starremans, B.; Hosman, A.J.; Bartels, R.H.M.A.

    2017-01-01

    STUDY DESIGN: A systematic review. OBJECTIVES: Conus medullaris syndrome (CMS) and cauda equina syndrome (CES) are well-known neurological entities. It is assumed that these syndromes are different regarding neurological and functional prognosis. However, literature concerning spinal trauma is

  15. Lumbar spinal canal MRI diameter is smaller in herniated disc cauda equina syndrome patients

    OpenAIRE

    Korse, Nina S.; Kruit, Mark C.; Peul, Wilco C.; Vleggeert-Lankamp, Carmen L. A.

    2017-01-01

    Introduction Correlation between magnetic resonance imaging (MRI) and clinical features in cauda equina syndrome (CES) is unknown; nor is known whether there are differences in MRI spinal canal size between lumbar herniated disc patients with CES versus lumbar herniated discs patients without CES, operated for sciatica. The aims of this study are 1) evaluating the association of MRI features with clinical presentation and outcome of CES and 2) comparing lumbar spinal canal diameters of lumbar...

  16. Acute flaccid paraparesis (cauda equina syndrome in a patient with Bardet–Biedl syndrome

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    Vibhu Krishnan Viswanathan

    2017-01-01

    Full Text Available Bardet–Biedl syndrome (BBS is a rare, autosomal-recessive, debilitating genetic disorder, which can present with multitudinous systemic clinical features including rod-cone dystrophy, polydactyly, Frohlich-like central obesity, mental retardation, hypogonadism, and renal anomalies. Diverse neuromuscular manifestations in patients afflicted by this heterogeneous disorder include ataxia, cervical, and thoracic canal stenoses, presenting as spastic quadriparesis and other gait disturbances. We report a young patient with BBS, who had presented with acute flaccid paraparesis due to severe primary lumbar canal stenosis. She underwent immediate lumbar decompression and discectomy following which she recovered significantly. Acute cauda equina syndrome due to primary lumbar canal stenosis has not been reported as a clinical feature of BBS previously.

  17. The Usefulness of Lumbar Spine MRI for Cauda Equina Syndrome

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    Moon, Tae Yong; Baik, Seong Kug [Dept. of Radiology, Pusan National University Yangsan Hospital, Yangsan(Korea, Republic of); Lee, In Sook [Dept. of Radiology and Medical Research Institite, Pusan National University Hosptal, Pusan (Korea, Republic of)

    2011-05-15

    To understand the usefulness of the lumbar MRI studies to establish therapeutic plans for cauda equina syndrome (CES) including the management of rectal and bladder dysfunction symptoms. We retrospectively reviewed the lumbar MRI studies of 10 patients with CES. Their diagnoses included four adhesive arachnoiditis of cauda equina (CE), three conus medullaris atrophies, three spinal canal stenoses, one tuberculous leptomeningitis, one metastatic tumor on the sacral canal, and one dural arteriovenous fistula with venous congestion of the conus medullaris. In 6 of the 10 total cases the symptoms of rectal and bladder dysfunction were resolved by decompression laminectomies (n=2), irradiation (n=1), glue embolization (n=1), anticholine and steroid infusion (n=1), and anti-tuberculous medication (n=1) within at least 5 days. The 4 other cases were settled by lumboperitoneal shunting and neural stem cell implants. The study results indicate that lumbar MRI is the modality of choice in search for the causative lesion and to subsequently set up the best therapeutic plans for patients with CES.

  18. MRI of cauda equina syndrome in ankylosing spondylitis: a case report

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    Kim, Ji Yang; Choi, Pil Yeob; Sung, Young Soon; Kwon, Jae Soo [Masan Samsung General Hospital, Masan (Korea, Republic of)

    1995-10-15

    Cauda equina syndrome is a rare neurologic complication in patient with long-standing ankylosing spondylitis. Authors report a case of cauda equina syndrome in ankylosing spondylitis. On plain radiographs, typical 'bamboo spine' and fusion of sacroiliac joints were noted. MRI of the lumbar spine revealed arachnoid diverticulae which were isointense to cerebrospinal fluid on all spin echo sequences, and showed bony erosion and scalloping of posterior arches.

  19. Spinal intradural hydatid cyst causing arachnoiditis: A rare etiology of cauda equina syndrome.

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    Singh, Suyash; Sardhara, Jayesh; Singh, Amit Kumar; Srivastava, Arun Kumar; Bhaisora, Kamlesh Singh; Das, Kuntal Kanti; Mehrotra, Anant; Sahu, Rabi N; Jaiswal, Awadhesh Kumar; Behari, Sanjay

    2016-01-01

    This study aims to focus on a rare presentation of spinal hydatid cyst as cauda equine syndrome and misdiagnosed as intradural extramedullary (IDEM) benign lesion on magnetic resonance imaging. In this article, we report a case of spinal hydatid cyst masquerading as IDEM tumor, and intraoperatively, we accidently find clumped granuloma with severe arachnoiditis and hydatid cyst in lumber region, which was present as bilateral S1 radiculopathy with cauda equina syndrome. An 11-year-old boy who presented with symptoms and signs of cauda equina syndrome and planned for surgical excision. His radiological impression was IDEM possibly neurofibroma. To our surprise, we found multiple intradural cystic lesions with arachnoiditis. Dissecting in plane cyst was flushed out, and surgical cavity was irrigated with 3% saline. Postoperatively histopathology and serum tests confirmed the diagnosis of hydatid cyst. Hydatid disease is rare cause of cauda equine syndrome which can be miss diagnosed on radiological investigations. A high index of suspicion should be kept especially in a young patient from the Indian subcontinent.

  20. Spinal intradural hydatid cyst causing arachnoiditis: A rare etiology of cauda equina syndrome

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    Suyash Singh

    2016-01-01

    Full Text Available This study aims to focus on a rare presentation of spinal hydatid cyst as cauda equine syndrome and misdiagnosed as intradural extramedullary (IDEM benign lesion on magnetic resonance imaging. In this article, we report a case of spinal hydatid cyst masquerading as IDEM tumor, and intraoperatively, we accidently find clumped granuloma with severe arachnoiditis and hydatid cyst in lumber region, which was present as bilateral S1 radiculopathy with cauda equina syndrome. An 11 year old boy who presented with symptoms and signs of cauda equina syndrome and planned for surgical excision. His radiological impression was IDEM possibly neurofibroma. To our surprise, we found multiple intradural cystic lesions with arachnoiditis. Dissecting in plane cyst was flushed out, and surgical cavity was irrigated with 3% saline. Postoperatively histopathology and serum tests confirmed the diagnosis of hydatid cyst. Hydatid disease is rare cause of cauda equine syndrome which can be miss diagnosed on radiological investigations. A high index of suspicion should be kept especially in a young patient from the Indian subcontinent.

  1. Spinal intradural hydatid cyst causing arachnoiditis: A rare etiology of cauda equina syndrome

    Science.gov (United States)

    Singh, Suyash; Sardhara, Jayesh; Singh, Amit Kumar; Srivastava, Arun Kumar; Bhaisora, Kamlesh Singh; Das, Kuntal Kanti; Mehrotra, Anant; Sahu, Rabi N; Jaiswal, Awadhesh Kumar; Behari, Sanjay

    2016-01-01

    This study aims to focus on a rare presentation of spinal hydatid cyst as cauda equine syndrome and misdiagnosed as intradural extramedullary (IDEM) benign lesion on magnetic resonance imaging. In this article, we report a case of spinal hydatid cyst masquerading as IDEM tumor, and intraoperatively, we accidently find clumped granuloma with severe arachnoiditis and hydatid cyst in lumber region, which was present as bilateral S1 radiculopathy with cauda equina syndrome. An 11-year-old boy who presented with symptoms and signs of cauda equina syndrome and planned for surgical excision. His radiological impression was IDEM possibly neurofibroma. To our surprise, we found multiple intradural cystic lesions with arachnoiditis. Dissecting in plane cyst was flushed out, and surgical cavity was irrigated with 3% saline. Postoperatively histopathology and serum tests confirmed the diagnosis of hydatid cyst. Hydatid disease is rare cause of cauda equine syndrome which can be miss diagnosed on radiological investigations. A high index of suspicion should be kept especially in a young patient from the Indian subcontinent. PMID:27891041

  2. Cauda equina syndrome: A rare complication in intensive care

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    Jagatsinh Yogendrasinh

    2009-01-01

    Full Text Available A 73-year-old married retired woman with a history of myocardial infarction and primary biliary cirrhosis was admitted to intensive care unit with complaints of chest pain. She was suspected to have pulmonary embolism (PE and was treated with low-molecular-weight heparin (LMWH and aspirin. She had computerized tomographic pulmonary angiography on next day, which ruled out any evidence of PE, until she was continued on LMWH. Three days later, she developed progressive right leg weakness and loss of sphincter control and patchy loss of sensation from T10 and below. She was seen by neurologist and had an MRI scan, which showed extensive subdural clot compressing the conus and lower half of the thoracic cord. She underwent T9-L1, L3, L5-S1 laminectomies, and evacuation and decompression of the clot. She showed very slight recovery following the surgery and left with residual paraparesis. This case is reported to raise awareness among intensivists to be cautious in establishing the diagnosis before prescribing the LMWH and be vigilant to diagnose cauda equina syndrome and treat promptly to avoid residual neurological problems.

  3. A patient with postpolio syndrome developed cauda equina syndrome after neuraxial anesthesia: A case report.

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    Tseng, Wei-Cheng; Wu, Zhi-Fu; Liaw, Wen-Jinn; Hwa, Su-Yang; Hung, Nan-Kai

    2017-02-01

    Combined spinal anesthesia and postoperative epidural analgesia is widely used in orthopedic surgery. Uncommon but serious neurologic complications of neuraxial anesthesia (NA) include direct trauma during needle or catheter insertion, central nervous system infections, and neurotoxicity of local anesthetics. Cauda equina syndrome (CES) is a rare complication after NA but can result in severe neurologic deterioration that may require surgical intervention. We present a case of a 69-year-old woman with postpolio syndrome who developed CES after combined spinal anesthesia and postoperative epidural analgesia. Perioperative observations and follow-up examinations, including magnetic resonance imaging, revealed no evidence of direct needle- or catheter-induced trauma, spinal hematoma, spinal ischemia, intraneural anesthetic injection, or infection. We speculate that CES symptoms were observed because of enhanced sensitivity to a combination of regional anesthetic technique-related microtrauma and neurotoxicity of bupivacaine and ropivacaine. Thus, practitioners should be aware that patients with preexisting neurologic diseases may be at increased risk for CES after NA. Copyright © 2016 Elsevier Inc. All rights reserved.

  4. An atypical ballistic traumatic cauda equina syndrome with a positive outcome. Focus on prognostic factors.

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    Galano, E; Gélis, A; Oujamaa, L; Dutray, A; Pelissier, J; Dupeyron, A

    2009-12-01

    Traumatic cauda equina syndromes due to projectile wounds often have a poor prognosis. We report on an unusual ballistic cauda equina traumatism with a good functional outcome. A 44-year-old man was admitted to emergency room for an incomplete cauda equina syndrome after trying to kill himself by means of a pneumatic nail gun. The nail had gone right through the third lumbar vertebra. Because of the stability of the fracture, orthopaedic surgery was not indicated. Neurological recovery was progressive. At 6 months, there was still a partial L5-S1 motor deficit on the left side but the patient could walk without crutches, and within an unlimited walking distance. Initial imaging displayed a projectile trajectory focused on the spinal canal on level L3, which could have been considered as bad prognosis. The positive analytic and functional outcome correlates with the limited neurological tissue damage, probably explained by the ballistic properties of the projectile. Apart from the influence of a possible surgical act, the neurological and functional prognosis of a traumatic cauda equina syndrome caused by a projectile also depends on its physical characteristics.

  5. A Clinical Observation on the Case of Cauda Equina Syndrome Using Scolopendrid Pharmacopuncture

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    Lee Hwi-yong

    2008-06-01

    Full Text Available Objective : This study was investigated on the Scolopendrid Pharmacopuncture of Caude equina syndrome which has been described as a complex of low back pain, bilateral sciatica, saddle anesthesia and motor weakness in the lower extremity that progress to paraplegia with baldder and bowel incontinence. Methods & Results : Clinical observation was done on Cauda equina syndrome in the Department of Acupuncture & Moxibustion, Woosuk jeonju Oriental Medical Hospital frome May 30 to July 13. The patient was treated with Scolopendrid Pharmacopuncture at Shinsu(B23, Gihaesu(B24, Taejangsu(B25, Gwanweonsu(b26, Dangryo(b31, Charyo(b32, Jang-gang(gv1 and Hoe-eum(cv1 with Oriental Medicine treatment. We evaluated SF-36, the bladder incontinence, bowel incontinence, sensibility by sting skin, before and after treatmeat. Conclusion : 1. At the early time, gait disturbance was treated well, but discomfort of bladder incontinence, bilateral sciatica, saddle anesthesia and motor weakness was remained. 2. The symptoms of Cauada equina syndrome, especially bladder incontinence and bilateral sciatica, was recurred in short duration by scolopendrid Pharmacopuncture and oriental medicine treatment.

  6. Cauda equina hemangioblastoma: case report.

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    da Costa, Leodante Batista; de Andrade, Agustinho; Braga, Bruno Perocco; Ribeiro, Carlos Alberto

    2003-06-01

    Hemangioblastomas of the spinal cord are rare lesions, and those located at the cauda equina are even rarer. Most commonly these tumors are present in patients with von Hippel-Lindau (VHL) syndrome. We describe here the case of a 48 years old woman with a pure radicular hemangioblastoma, not associated with VHL, presenting with radicular pain, diagnosed with magnetic ressonance imaging (MRI) and submitted to total resection with a very good outcome. To our knownledge, this is the second report to describe the MRI aspect of histologically proved hemangioblastoma of the cauda equina in a patient without clinical criteria for VHL.

  7. Cauda equina hemangioblastoma: case report

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    Costa Jr Leodante Batista da

    2003-01-01

    Full Text Available Hemangioblastomas of the spinal cord are rare lesions, and those located at the cauda equina are even rarer. Most commonly these tumors are present in patients with von Hippel-Lindau (VHL syndrome. We describe here the case of a 48 years old woman with a pure radicular hemangioblastoma, not associated with VHL, presenting with radicular pain, diagnosed with magnetic ressonance imaging (MRI and submitted to total resection with a very good outcome. To our knownledge, this is the second report to describe the MRI aspect of histologically proved hemangioblastoma of the cauda equina in a patient without clinical criteria for VHL.

  8. [Lumbosacral instability. The cauda equina compression syndrome in dogs].

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    Köppel, E; Rein, D

    1992-12-01

    The literature review includes a short anatomical description of the lumbosacral area, etiology, symptoms, diagnosis and therapy of CECS. Two hundred and twenty-seven large-breed dogs were examined clinically, neurologically and radiologically for diseases of the lumbosacral area. Radiological findings, such as dorsal dislocation of L7, spondylosis deformans, sloped craniodorsal contour of S1, sclerosis of the cranial plate of S1 as well as narrowing and increased density of the intervertebral foramen L7/S1 were compared with clinical and neurological results. In 15 dogs dorsal dislocation of L7 by 1 to 8 mm was found. An extended position proved to be more successful in demonstrating that finding than the flexed one. All other pathological changes were found either individually or in combination in patients with lumbosacral spondylolisthesis. One hundred and thirty-six dogs showed no sign of dorsal dislocation but all the other described changes. All detected changes have to be interpreted as instability of the lumbosacral area and resultant chronic and degenerative pathological processes. A definite correlation between spondylolisthesis of L7/S1 and compression of the cauda equina could not be found on plain radiography.

  9. Cauda equina syndrome secondary to lumbar disc herniation: Surgical delay and its relationship with prognosis.

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    Foruria, X; Ruiz de Gopegui, K; García-Sánchez, I; Moreta, J; Aguirre, U; Martínez-de Los Mozos, J L

    2016-01-01

    To determine whether surgical treatment delayed for more than 48 hours in patients with cauda equina syndrome (CES) influenced the clinical outcome. A retrospective study of 18 patients treated in our hospital from March 2000 to January 2012, after presenting with CES. The pre- and post-operative clinical status was determined: existence of back pain and/or sciatica, sensory disturbance in the perineum, sensory and motor deficits in the lower extremities, and the degree of sphincter incontinence (complete or incomplete CES). A clinical assessment was performed using the Oswestry disability index. As regards the onset of symptoms, 44% (8 of 18) of patients were treated at an early stage (within 48 hours). None of the patients with complete CES operated in the early stage had urinary incontinence, and also had greater motor recovery. Of the 5 patients with complete CES who underwent delayed surgery, 3 showed residual urinary incontinence. A mean of 12.55 was obtained on the Oswestry disability index scale at the end of follow-up. Although no statistically significant difference was found in our study, we observed greater motor and sphincter recovery in patients who were operated on within 48 hours. Copyright © 2016 SECOT. Published by Elsevier Espana. All rights reserved.

  10. A 40-year-old woman with cauda equina syndrome caused by rectothecal fistula arising from an anterior sacral meningocele.

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    Bergeron, Eric; Roux, Alain; Demers, Jacques; Vanier, Laurent E; Moore, Lynne

    2010-11-01

    We present a rare case of a rectothecal fistula arising from an anterior sacral meningocele in a patient with Currarino syndrome. The patient was a 40-year-old woman presenting with cauda equina syndrome and ascending meningitis. The meningocele was removed using an anterior abdominal approach. A sigmoid resection was performed with rectal on-table antegrade lavage followed by closure of the rectal fistula, closure of the rectal stump, and proximal colostomy. Closure of the sacral deficit was carried out by suturing a strip of well-vascularized omentum and fibrin glue. We discuss the characteristics, management, and evolution of this unusual case. Prompt surgical management using an anterior approach, resection of the sac, closure of the sacral deficit, and fecal diversion resulted in a satisfactory outcome.

  11. Cauda equina syndrome after spinal anaesthesia in a patient with asymptomatic tubercular arachnoiditis

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    Divya Sethi

    2011-01-01

    Full Text Available A 14-year-old boy underwent emergency debridement surgery of right foot under spinal anaesthesia. Four hours after the surgery, the patient developed symptoms of cauda equina syndrome (CES. Postoperative magnetic resonance imaging of the patient′s spine suggested underlying tubercular arachnoiditis. The boy was started on intravenous methylprednisolone and antitubercular therapy. He responded to the therapy and recovered completely in 2 weeks without any residual neurological deficits. We suggest that underlying pathological changes in the subarachnoid space due to tubercular arachnoiditis contributed to maldistribution of the local anaesthetic drug leading to CES.

  12. Persistent cauda equina syndrome after caudal epidural injection under severe spinal stenosis: a case report

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    Seo YT

    2017-06-01

    Full Text Available Young Tak Seo,1 Hyun Ho Kong,1 Goo Joo Lee,1 Heui Je Bang1,2 1Department of Rehabilitation Medicine, Chungbuk National University Hospital, 2Department of Rehabilitation Medicine, College of Medicine, Chungbuk National University, Cheongju, Republic of Korea Abstract: Caudal epidural injection (CEI is one of the most common treatments for low-back pain with sciatica. CEI rarely leads to neurologic complications. We report a case of persistent cauda equina syndrome after CEI. A 44-year-old male patient with severe L4 and L5 spinal stenosis underwent CEI for low-back pain and sciatica. The CEI solution consisted of bupivacaine, hyaluronidase, triamcinolone acetonide, and normal saline. He experienced motor weakness and sensory loss in both lower extremities and neurogenic bladder for more than 1 year after the procedure. His ankle dorsiflexors, big-toe extensors, and ankle plantar flexors on both sides were checked and categorized as motor-power Medical Research Council grade 0. His bilateral ankle-jerk reflection was absent. An electrophysiological study showed lumbosacral polyradiculopathy affecting both sides of the L5 and S1 nerve roots. A urodynamic study revealed hypoactive neurogenic bladder affecting both sacral roots. Keywords: epidural injection, cauda equina syndrome, complications

  13. Adhesive arachnoiditis causing cauda equina syndrome in ankylosing spondylitis: CT and MRI demonstration of dural calcification and a dorsal dural diverticulum

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    Bilgen, I.G.; Yunten, N.; Ustun, E.E. [Ege Univ., Dept. of Radiology, Izmir (Turkey); Oksel, F.; Gumusdis, G. [Ege Univ., Dept. of Rheumatology, Izmir (Turkey)

    1999-07-01

    We present the radiological features of a 42-years-old man with long-standing inactive ankylosing spondylitis (AS), demonstrating that arachnoiditis is a cause of a cauda equina syndrome (CES) in this disease. CT showed a dorsal arachnoid diverticulum causing scalloped erosion of the laminae, and punctate and curvilinear dural calcification. MRI revealed adhesion and convergence of the cauda equina dorsally into the arachnoid pouch, causing the dural sca to appear empty canal. To the best of our knowledge, dural calcification on CT is a new finding in AS, which may be related to the CES. Our findings support the hyopthesis that chronic adhesive arachnoiditis with subsequent loss of meningeal elasticity may be the main cause of CES in AS. (orig.)

  14. [Cauda equina syndrome secondary to neurolymphomatosis: Case report and literature review].

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    Jiménez Zapata, Herbert Daniel; Rojas Medina, Luis Mariano; Carrasco Moro, Rodrigo; Martínez Rodrigo, Aurora; García-Cosio Piqueras, Mónica

    2017-09-20

    Neurolymphomatosis is a rare disorder characterised by infiltration of neoplastic lymphocytes into the peripheral nervous system. A wide variety of symptoms can manifest depending on its nature and location, making its diagnosis a real challenge. Treatment is based on methotrexate, although various chemotherapy regimens are currently available for patients with systemic disease. We present the case of a male patient with neurolymphomatosis of the cauda equina, together with a review of all cases published to date. Copyright © 2017 Sociedad Española de Neurocirugía. Publicado por Elsevier España, S.L.U. All rights reserved.

  15. Lumbar spinal canal MRI diameter is smaller in herniated disc cauda equina syndrome patients.

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    Korse, Nina S; Kruit, Mark C; Peul, Wilco C; Vleggeert-Lankamp, Carmen L A

    2017-01-01

    Correlation between magnetic resonance imaging (MRI) and clinical features in cauda equina syndrome (CES) is unknown; nor is known whether there are differences in MRI spinal canal size between lumbar herniated disc patients with CES versus lumbar herniated discs patients without CES, operated for sciatica. The aims of this study are 1) evaluating the association of MRI features with clinical presentation and outcome of CES and 2) comparing lumbar spinal canal diameters of lumbar herniated disc patients with CES versus lumbar herniated disc patients without CES, operated because of sciatica. MRIs of CES patients were assessed for the following features: level of disc lesion, type (uni- or bilateral) and severity of caudal compression. Pre- and postoperative clinical features (micturition dysfunction, defecation dysfunction, altered sensation of the saddle area) were retrieved from the medical files. In addition, anteroposterior (AP) lumbar spinal canal diameters of CES patients were measured at MRI. AP diameters of lumbar herniated disc patients without CES, operated for sciatica, were measured for comparison. 48 CES patients were included. At MRI, bilateral compression was seen in 82%; complete caudal compression in 29%. MRI features were not associated with clinical presentation nor outcome. AP diameter was measured for 26 CES patients and for 31 lumbar herniated disc patients without CES, operated for sciatica. Comparison displayed a significant smaller AP diameter of the lumbar spinal canal in CES patients (largest p = 0.002). Compared to average diameters in literature, diameters of CES patients were significantly more often below average than that of the sciatica patients (largest p = 0.021). This is the first study demonstrating differences in lumbar spinal canal size between lumbar herniated disc patients with CES and lumbar herniated disc patients without CES, operated for sciatica. This finding might imply that lumbar herniated disc patients with a

  16. Lumbar spinal canal MRI diameter is smaller in herniated disc cauda equina syndrome patients.

    Directory of Open Access Journals (Sweden)

    Nina S Korse

    Full Text Available Correlation between magnetic resonance imaging (MRI and clinical features in cauda equina syndrome (CES is unknown; nor is known whether there are differences in MRI spinal canal size between lumbar herniated disc patients with CES versus lumbar herniated discs patients without CES, operated for sciatica. The aims of this study are 1 evaluating the association of MRI features with clinical presentation and outcome of CES and 2 comparing lumbar spinal canal diameters of lumbar herniated disc patients with CES versus lumbar herniated disc patients without CES, operated because of sciatica.MRIs of CES patients were assessed for the following features: level of disc lesion, type (uni- or bilateral and severity of caudal compression. Pre- and postoperative clinical features (micturition dysfunction, defecation dysfunction, altered sensation of the saddle area were retrieved from the medical files. In addition, anteroposterior (AP lumbar spinal canal diameters of CES patients were measured at MRI. AP diameters of lumbar herniated disc patients without CES, operated for sciatica, were measured for comparison.48 CES patients were included. At MRI, bilateral compression was seen in 82%; complete caudal compression in 29%. MRI features were not associated with clinical presentation nor outcome. AP diameter was measured for 26 CES patients and for 31 lumbar herniated disc patients without CES, operated for sciatica. Comparison displayed a significant smaller AP diameter of the lumbar spinal canal in CES patients (largest p = 0.002. Compared to average diameters in literature, diameters of CES patients were significantly more often below average than that of the sciatica patients (largest p = 0.021.This is the first study demonstrating differences in lumbar spinal canal size between lumbar herniated disc patients with CES and lumbar herniated disc patients without CES, operated for sciatica. This finding might imply that lumbar herniated disc patients with

  17. Definitions of traumatic conus medullaris and cauda equina syndrome: a systematic literature review.

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    Brouwers, E; van de Meent, H; Curt, A; Starremans, B; Hosman, A; Bartels, R

    2017-10-01

    A systematic review. Conus medullaris syndrome (CMS) and cauda equina syndrome (CES) are well-known neurological entities. It is assumed that these syndromes are different regarding neurological and functional prognosis. However, literature concerning spinal trauma is ambiguous about the exact definition of the syndromes. A MEDLINE, EMBASE and Cochrane literature search was performed. We included original articles in which clinical descriptions of CMS and/or CES were mentioned in patients following trauma to the thoracolumbar spine. Out of the 1046 articles, we identified 14 original articles concerning patients with a traumatic CMS and/or CES. Based on this review and anatomical data from cadaveric and radiological studies, CMS and CES could be more precisely defined. CMS may result from injury of vertebrae Th12-L2, and it involves damage to neural structures from spinal cord segment Th12 to nerve root S5. CES may result from an injury of vertebrae L3-L5, and it involves damage to nerve roots L3-S5. This differentiation between CMS and CES is necessary to examine the hypothesis that CES patients tend to have a better functional outcome.

  18. Incomplete cauda equina syndrome secondary to haemorrhage within a Tarlov cyst.

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    Yates, Joseph R; Jones, Conor S; Stokes, Oliver M; Hutton, Michael

    2017-08-07

    Sacral perineural (Tarlov) cysts are benign, cerebrospinal fluid containing lesions of the spinal nerve root sheath. They are usually asymptomatic; however, a small proportion have the potential to cause compression of nerve roots and/or the cauda equina.We report a case of a 61-year-old man who presented with acute onset back pain associated with bilateral radiculopathy. Between referral and consultation, the patient developed urinary dysfunction which resolved spontaneously.MRI revealed haemorrhage within a Tarlov cyst, resulting in compression of the cauda equina. Due to the considerable clinical improvement at the time of consultation, surgical decompression of the cyst was not considered to be indicated.An interval MRI scan 8 weeks later demonstrated that the haemorrhage within the perineural cyst had spontaneously resolved and the patient remained asymptomatic at 5-year follow-up. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  19. Paraganglioma of the Cauda Equina Presenting with Erectile and Sphincter Dysfunction

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    Wiesław Marcol

    2009-06-01

    Full Text Available Paragangliomas of the cauda equina are rare neuroepithelial tumors, usually manifesting clinically as sciatica. Here, we report a case of cauda equina paraganglioma with an unusual course in a 43-year-old man. His main complaints were erectile and sphincter dysfunction. The low back pain was initially ascribed to accidental injury. Magnetic resonance imaging revealed intradural tumor at the L2/L3 level. The patient underwent gross tumor resection, and the diagnosis of paraganglioma was based on neuropathologic examination. The symptoms completely resolved after tumor resection.

  20. A Good Short-term Outcome in Delayed Decompression of Cauda Equina Syndrome in Klebsiella pneumoniae Spinal Epidural Abscess: A Case Report

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    Hanifah J

    2017-07-01

    Full Text Available Spinal epidural abscess is a severe, generally pyogenic, infection of the epidural space of spinal cord or cauda equina. The swelling caused by the abscess leads to compression or vascular disruption of neurological structures that requires urgent surgical decompression to avoid significant permanent disability. We share a rare case of Klebsiella pneumoniae spinal epidural abscess secondary to haematogenous spread of previous lung infection that presented late at our centre with cauda equina syndrome that showed good short-term outcome in delayed decompression. A 50-year old female presented with one-week history of persistent low back pain with progressively worsening bilateral lower limb weakness for seven days and urinary retention associated with saddle anesthesia of 2-day duration. Magnetic resonance imaging with contrast of the lumbo-sacral region showed an intramuscular collection of abscess at left gluteus maximus and left multifidus muscle with a L3-L5 posteriorly placed extradural lesion enhancing peripherally on contrast, suggestive of epidural abscess that compressed the cauda equina. The pus was drained using the posterior lumbar approach. Tissue and pus culture revealed Klebsiella pneumoniae, suggestive of bacterial infection. The patient made immediate improvement of muscle power over bilateral lower limbs postoperative followed by ability to control micturition and defecation in the 4th post-operative day. A good short-term outcome in delayed decompression of cauda equine syndrome is extremely rare. Aggressive surgical decompression combined with antibiotic therapy led to good short-term outcome in this patient despite delayed decompression of more than 48 hours.

  1. Anterior lumbar discectomy and fusion for acute cauda equina syndrome caused by recurrent disc prolapse: report of 3 cases.

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    Tan, Kimberly-Anne; Sewell, Mathew D; Markmann, Yma; Clarke, Andrew J; Stokes, Oliver M; Chan, Daniel

    2017-10-01

    There is a lack of information and consensus regarding the optimal treatment for recurrent disc herniation previously treated by posterior discectomy, and no reports have described an anterior approach for recurrent disc herniation causing cauda equina syndrome (CES). Revision posterior decompression, irrespective of the presence of CES, has been reported to be associated with significantly higher rates of dural tears, hematomas, and iatrogenic nerve root damage. The authors describe treatment and outcomes in 3 consecutive cases of patients who underwent anterior lumbar discectomy and fusion (ALDF) for CES caused by recurrent disc herniations that had been previously treated with posterior discectomy. All 3 patients were operated on within 12 hours of presentation and were treated with an anterior retroperitoneal lumbar approach. Follow-up ranged from 12 to 24 months. Complete retrieval of herniated disc material was achieved without encountering significant epidural scar tissue in all 3 cases. No perioperative infection or neurological injury occurred, and all 3 patients had neurological recovery with restoration of bladder and bowel function and improvement in back and leg pain. ALDF is one option to treat CES caused by recurrent lumbar disc prolapse previously treated with posterior discectomy. The main advantage is that it avoids dissection around epidural scar tissue, but the procedure is associated with other risks and further evaluation of its safety in larger series is required.

  2. Percutaneous endoscopic lumbar discectomy for a huge herniated disc causing acute cauda equina syndrome: a case report.

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    Jha, Subash C; Tonogai, Ichiro; Takata, Yoichiro; Sakai, Toshinori; Higashino, Kosaku; Matsuura, Tetsuya; Suzue, Naoto; Hamada, Daisuke; Goto, Tomohiro; Nishisho, Toshihiko; Tsutsui, Takahiko; Goda, Yuichiro; Abe, Mitsunobu; Mineta, Kazuaki; Kimura, Tetsuya; Nitta, Akihiro; Hama, Shingo; Higuchi, Tadahiro; Fukuta, Shoji; Sairyo, Koichi

    2015-01-01

    Microsurgery for lumbar disc herniation that requires surgical intervention has been well described. The methods vary from traditional open discectomy to minimally invasive techniques. All need adequate preanesthetic preparation of patients as general anesthesia is required for the procedure, and nerve monitoring is necessary to prevent iatrogenic nerve injury. Conventional surgical techniques sometimes require the removal of the corresponding lamina to assess the nerve root and herniated disc, and this may increase the risk for posterior instability of the vertebral body. Should this occur, fusion surgery may be needed, further increasing morbidity and cost. We present here a case of lumbar herniated disc fragments causing acute cauda equina syndrome that were endoscopically resected through a transforaminal approach in an awake patient under local anesthesia. Percutaneous endoscopic discectomy under local anesthesia proved to be a better alternative to open back surgery as it made immediate intervention possible, was associated with fewer perioperative complications and morbidity, minimized soft tissue damage, and allowed early rehabilitation with a better outcome and greater patient satisfaction. In addition to these advantages, percutaneous endoscopic discectomy protects other approaches that may be needed in subsequent surgeries, whether open or minimally invasive.

  3. 1991 Volvo Award in experimental studies. Cauda equina syndrome: neurologic recovery following immediate, early, or late decompression.

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    Delamarter, R B; Sherman, J E; Carr, J B

    1991-09-01

    An animal model of cauda equina syndrome was developed. Neurologic recovery was analyzed following immediate, early, and delayed decompression. Five experimental groups, each containing six dogs, were studied. Compression of the cauda equina was performed in all 30 dogs following an L6-7 laminectomy. The cauda equina was constricted by 75% in each group. The first group was constricted and immediately decompressed. The remaining groups were constricted for 1 hour, 6 hours, 24 hours, and 1 week, respectively, before being decompressed. Somatosensory evoked potentials were performed before and after surgery, before and immediately after decompression, and 6 weeks following decompression. Daily neurologic exams using the Tarlov grading scale were performed. At 6 weeks postdecompression, all dogs were killed, and the neural elements analyzed histologically. Following compression, all 30 dogs had significant lower extremity weakness, tail paralysis, and urinary incontinence. All dogs recovered significant motor function 6 weeks following decompression. The dogs with immediate decompression generally recovered neurologic function within 2-5 days. The dogs receiving 1-hour and 6-hour compression recovered within 5-7 days. The dogs receiving 24-hour compression remained paraparetic 5-7 days, with bladder dysfunction for 7-10 days and tail dysfunction persisting for 4 weeks. The dogs with compression for 1 week were paraparetic (Tarlov Grade 2 or 3) and incontinent during the duration of cauda equina compression. They recovered to walking by 1 week and Tarlov Grade 5 with bladder and tail control at the time of euthanasia. Immediately after compression, all five groups demonstrated at least 50% deterioration of the posterior tibial nerve evoked potential amplitudes.(ABSTRACT TRUNCATED AT 250 WORDS)

  4. Episodic cauda equina compression from an intradural lumbar herniated disc: a case of 'floppy disc'.

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    Nagaria, J; Chan, Cc; Kamel, Mh; McEvoy, L; Bolger, C

    2011-09-01

    Intradural disc herniation (IDDH) is a rare complication of intervertebral disc disease and comprises 0.26-0.30% of all herniated discs, with 92% of them located in the lumbar region (1). We present a case of IDDH that presented with intermittent symptoms and signs of cauda equina compression. We were unable to find in the literature, any previously described cases of intermittent cauda equina compression from a herniated intradural disc fragment leading to a "floppy disc syndrome". © JSCR.

  5. The long term outcome of micturition, defecation and sexual function after spinal surgery for cauda equina syndrome.

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    Nina S Korse

    Full Text Available Cauda equina syndrome (CES is a rare neurologic complication of lumbar herniated disc for which emergency surgical decompression should be undertaken. Despite the common belief that the restoration of functions that are affected by CES can take several years postoperatively, follow up seldom exceeds the first year after surgery. Long term outcome of especially micturition, defecation and sexual function-which are by definition affected in CES-are unknown. The aim of this study is to evaluate 1 postoperative long term outcome of micturition, defecation and sexual function in CES patients 2 attitude of patients towards received hospital care with regard to (recovery of these functions.CES patients were selected by screening the records of all patients operated on lumbar herniated disc in our university hospital between 1995-2010. A questionnaire was sent to the selected CES patients evaluating current complaints of micturition, defecation and sexual function and attitude towards delivered care with focus on micturition, defecation and sexual function.Thirty-seven of 66 eligible CES patients were included (response rate 71%, inclusion rate 56%. Median time after surgery was 13.8 years (range 5.8-21.8 years. Dysfunction at follow up was highly prevalent: 38% micturition dysfunction, 43% defecation dysfunction and 54% sexual dysfunction. Younger age at presentation was associated with sexual dysfunction at follow up: for every year younger at presentation, odds ratio for sexual dysfunction at follow up was 1.11 (p = 0.035. Other associations with outcome were not identified. Two-third of the CES patients wished their neurosurgeon had given them more prognostic information about micturition, defecation and sexual function.The presented data demonstrate that dysfunction of micturition, defecation and sexual function are still highly prevalent in a large number of CES patients even years postoperatively. These alarming follow up data probably have a

  6. Isolated cysticercosis of the cauda equina

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    Maurizio Iacoangeli

    2013-01-01

    Full Text Available Cysticercosis is the most common parasitic infection of the central nervous system. It is an endemic condition in developing countries, but the incidence rate is increasing in developed countries as well because of rising immigration. Spinal involvement is quite rare and it is usually associated with concomitant intracranial infective lesions. We present an unusual case of a 44-year-old woman who experienced a cauda equina syndrome. Magnetic resonance imaging disclosed two intradural cystic lesions at L4-L5 level. Only after histological examination the diagnosis of cysticercosis was definitively determined. The entire neuraxis evaluation confirmed that it was a rare form of isolated intradural racemosus type cysticercosis of the cauda equina. Steroids and albendazole were administered and post-operative course was uneventful. In this paper we discuss clinical, pathogenic and therapeutic aspects of this infective pathology.

  7. ROLE OF MEDICAL REHABILITATION IN CAUDA EQUINA SYNDROME WITH FLACCID PARAPARESIS AFTER SPINAL MENINGITIS. A CASE REPORT

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    DOGARU Gabriela

    2014-09-01

    Full Text Available Patient L.I., aged 47 years, with multiple hospitalizations in November 2013 for multiple neurological and infectious diseases. In October 2011, surgery was performed for vicious posttraumatic right acetabular callus, confirmed by computed tomography. Subsequently, in November 2013, the patient had lumbar pain radiating to the lower limbs, functional impotence, sphincter incontinence, septic state with positive hemocultures for Staphylococcus aureus, with multiple paravertebral abscesses involving the left iliopsoas muscle, confirmed by contrast magnetic resonance imaging of the dorsolumbar spine, operated phlegmon of the left leg, which were interpreted as diffuse secondary spinal meningitis, complicated by a cauda equina syndrome, for which adequate antibiotic treatment was administered at the Clinic of Infectious Diseases Cluj-Napoca. The patient also presented two episodes of Clostridium difficile acute enterocolitis, with two fecal transplant sessions. In May 2014, the patient was admitted to the Rehabilitation Hospital Cluj-Napoca for motor deficit of the lower limbs, walking disorders, micturition disorders, sexual dynamic disorders, pain in the lumbar spine radiating to the lower limbs, sudden onset sensitivity disorders at D10 level in a febrile context in November 2013, interpreted based on lumbar MRI as spinal meningitis secondary to dorsal and lumbar paravertebral abscesses. During the course of hospitalization, the patient received a complex medical rehabilitation treatment consisting of kinetotherapy (posturations, passive mobilizations, active mobilizations, transfers, proprioceptive neuromuscular facilitation techniques, walking rehabilitation, respiratory gymnastics, rehabilitation of sensitivity disorders, occupational therapy, massage, medium frequency currents for the rehabilitation of micturition disorders, with good results particularly in walking and urinary incontinence rehabilitation. The aim of the presentation of this

  8. Sudden onset of cauda equina syndrome resulting from posterior migration of lumbar herniated disc without significant previous neurological signs.

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    Ju, Jeong-Hyuk; Kim, Hyun-Woo; Jung, Chul-Ku; Ha, Ho-Gyun

    2012-09-01

    While extruded disc fragments are known to migrate anteriorly, posteriorly, or laterally to the theca sac, posterior migration of the fragments is relatively rare and sudden onset of cauda equina syndrome (CES) caused by the migration is extremely rare. The authors experienced a case of CES that was manifested abruptly with sudden paraplegia caused by posterior migration of the lumbar intervertebral disc. A 74-year old man, who had no prior significant neurologic signs or trauma history, visited our emergency center with paraplegia of both lower extremities occurring suddenly when awakened. On magnetic resonance image (MRI) findings, we could detect ruptured disc herniation with severe lumbar stenosis at the L2-3 level. We performed an emergent decompression, and the right posterior migrated disc fragments at L2-3 were intraoperatively observed. The patient was fully recovered himself on the follow up after 3 months of the operation. In conclusion, early operation can result in better outcome in acute paraplegia caused by the posterior migrated disc fragments.

  9. Combination of transverse myelitis and arachnoiditis in cauda equina syndrome of long-standing ankylosing spondylitis: MRI features and its role in clinical management.

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    Lan, Howard Haw-Chang; Chen, Der-Yuan; Chen, Clayton Chi-Chang; Lan, Joung-Liang; Hsieh, Chia-Wei

    2007-11-01

    The cauda equina syndrome (CES) is a rare neurological complication of ankylosing spondylitis (AS). Imaging diagnosis of CES in long-standing AS patients (CES-AS) using myelography, computed tomography (CT), and magnetic resonance imaging (MRI) were reported in the literature. They, however, demonstrate only the chronic abnormalities of CES-AS, i.e., dural ectasia, dorsal dural diverticula, and selective bone erosion at the posterior elements of the vertebrae. To our knowledge, imaging features of acute intradural inflammation in CES-AS were not described. We report a patient of CES-AS in whom MRI disclosed acute transverse myelitis and arachnoiditis along the lower spinal cord, and discuss the pathogenesis of CES-AS and the role of MRI in clinical management.

  10. Spinal Cauda Equina Stimulation for Alternative Location of Spinal Cord Stimulation in Intractable Phantom Limb Pain Syndrome: A Case Report.

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    Lee, Pil Moo; So, Yun; Park, Jung Min; Park, Chul Min; Kim, Hae Kyoung; Kim, Jae Hun

    2016-04-01

    Phantom limb pain is a phenomenon in which patients experience pain in a part of the body that no longer exists. In several treatment modalities, spinal cord stimulation (SCS) has been introduced for the management of intractable post-amputation pain. A 46-year-old male patient complained of severe ankle and foot pain, following above-the-knee amputation surgery on the right side amputation surgery three years earlier. Despite undergoing treatment with multiple modalities for pain management involving numerous oral and intravenous medications, nerve blocks, and pulsed radiofrequency (RF) treatment, the effect duration was temporary and the decreases in the patient's pain score were not acceptable. Even the use of SCS did not provide completely satisfactory pain management. However, the trial lead positioning in the cauda equina was able to stimulate the site of the severe pain, and the patient's pain score was dramatically decreased. We report a case of successful pain management with spinal cauda equina stimulation following the failure of SCS in the treatment of intractable phantom limb pain.

  11. Spinal Cauda Equina Stimulation for Alternative Location of Spinal Cord Stimulation in Intractable Phantom Limb Pain Syndrome: A Case Report

    Science.gov (United States)

    Lee, Pil Moo; So, Yun; Park, Jung Min; Park, Chul Min; Kim, Hae Kyoung

    2016-01-01

    Phantom limb pain is a phenomenon in which patients experience pain in a part of the body that no longer exists. In several treatment modalities, spinal cord stimulation (SCS) has been introduced for the management of intractable post-amputation pain. A 46-year-old male patient complained of severe ankle and foot pain, following above-the-knee amputation surgery on the right side amputation surgery three years earlier. Despite undergoing treatment with multiple modalities for pain management involving numerous oral and intravenous medications, nerve blocks, and pulsed radiofrequency (RF) treatment, the effect duration was temporary and the decreases in the patient's pain score were not acceptable. Even the use of SCS did not provide completely satisfactory pain management. However, the trial lead positioning in the cauda equina was able to stimulate the site of the severe pain, and the patient's pain score was dramatically decreased. We report a case of successful pain management with spinal cauda equina stimulation following the failure of SCS in the treatment of intractable phantom limb pain. PMID:27103968

  12. Blau syndrome presenting with ichthyosis.

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    Masel, Grant; Halbert, Anne

    2005-02-01

    A 12-year-old girl presented with uveitis, joint disease and ichthyosis resembling ichthyosis vulgaris. A biopsy taken from the affected lower leg demonstrated sarcoidal-type granulomas. Synovial biopsy from the knee also showed granulomas. There was a family history of similar clinical features in the patient's younger sister. There were no other systemic features present to suggest a diagnosis of sarcoidosis or other granulomatous disease such as Crohn's disease or tuberculosis. The familial nature of the condition also made these diagnoses less likely. A clinical diagnosis of Blau syndrome was made. Blau syndrome is an uncommon sarcoidosis-like multisystem autosomal-dominant granulomatous disorder caused by mutations in the CARD15 gene. This gene has also recently been found to be a factor in the development of psoriatic arthritis and Crohn's disease. Although many forms of skin involvement have been described in Blau syndrome, this is the first case described of ichthyosis as the primary skin manifestation.

  13. Neurocysticercosis presenting as Millard Gubler syndrome

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    Rajniti Prasad

    2012-01-01

    Full Text Available Neurocysticercosis is a common childhood neurological illness in India. A variety of presentations have been reported in the literature, including weber syndrome. Neurocysticercosis, manifesting as Millard Gubler syndrome, have not been reported in literature. Therefore, we report a child presented to us with Millard Gubler syndrome due to pontomedullary neurocysticercosis and was treated successfully.

  14. Lumbar disc herniation and cauda equina syndrome following spinal manipulative therapy: a review of six court decisions in Canada.

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    Boucher, Pierre; Robidoux, Sébastien

    2014-02-01

    The purpose of this review is to expand practitioners' knowledge on areas of liability when treating low back pain patients. Six cases where chiropractors in Canada were sued for allegedly causing or aggravating lumbar disc herniation after spinal manipulative therapy were retrieved using the CANLII search database. The case series involves 4 men and 2 women with an average age of 37.3 years (range, 31-48 years). Trial courts' decisions were rendered between 2000 and 2011. This study highlights the following conclusions from Canadian courts: 1) informed consent is an ongoing process that cannot be entirely delegated to office personnel; 2) when the patient's history reveals risk factors for lumbar disc herniation the chiropractor has the duty to rule out disc pathology as an etiology for the symptoms presented by the patients before beginning anything but conservative palliative treatment; 3) lumbar disc herniation may be triggered by spinal manipulative therapy on vertebral segments distant from the involved herniated disc such as the thoracic spine. Copyright © 2014 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

  15. Early intervention in cauda equina syndrome associated with better outcomes: a myth or reality? Insights from the Nationwide Inpatient Sample database (2005-2011).

    Science.gov (United States)

    Thakur, Jai Deep; Storey, Christopher; Kalakoti, Piyush; Ahmed, Osama; Dossani, Rimal H; Menger, Richard P; Sharma, Kanika; Sun, Hai; Nanda, Anil

    2017-10-01

    Evidence-based consensus on timing to surgical decompression following symptom onset in patients with cauda equina syndrome (CES) is limited or widely debated. This study aimed to investigate whether timing to intervention in the management of patients with CES has an impact on outcomes. This is a retrospective cohort study. The patient sample included 4,066 adult patients with CES registered in the Nationwide Inpatient Sample database (2005-2011) and undergoing elective decompression surgery. The outcome measures are inpatient mortality, unfavorable discharge (discharge to rehabilitation), prolonged length of stay (LOS>75th percentile), and high hospital charges in patients undergoing decompression for CES. The patients were stratified into three categories based on timing to surgical intervention: (1) within 24 hours (n=1,846, 45.6%); (2) between 24 and 48 hours (n=1,080, 26.6%), and (3) beyond 48 hours (n=1,130, 27.8%). Multivariable logistic regression fitted with generalized estimating equations using the sandwich variance-covariance matrix estimator to account for the clustering of similar outcomes within hospitals was used to examine the association of timing to surgical intervention categories with binary primary end points. For metric end points (charges), we used the ordinary least squares model to test the effect of timing to intervention. The mean age of the cohort was 50.19±17.55 years and 41% were female. In comparison to patients operated within 24 hours, increased likelihood of inpatient mortality (odds ratio [OR]: 3.61, 95% confidence interval [CI]: 1.32-9.85, p=.012), unfavorable discharge (OR: 2.23, 95% CI: 1.87-2.66, p<.001), prolonged postsurgical LOS (OR: 1.76, 95% CI: 1.44-2.14, p<.001), and high hospital charges (OR:1.92, 95% CI: 1.81-2.05, p<.001) were observed in patients operated on over 48 hours since admission. Likewise, patients with incomplete CES with intervention beyond 48 hours had higher odds for unfavorable discharge (OR: 2

  16. Neuritis of the cauda equina in a dog.

    Science.gov (United States)

    Saey, V; Martlé, V; Van Ham, L; Chiers, Koen

    2010-10-01

    This study presents the first case report of neuritis of the cauda equina in a dog, including characterisation of the inflammatory infiltrate. The dog in question, a 6-year-old Welsh springer spaniel, was presented with flaccid tail and faecal and urinary incontinence. The histological lesions included severe mononuclear cell infiltration of the nerve roots of the cauda equina and of the lumbar nerve roots. The infiltrate was composed of large numbers of T-lymphocytes and B-lymphocytes and small numbers of macrophages. Polymerase chain reactions of brain and spinal tissues were positive for Neospora caninum. © 2010 British Small Animal Veterinary Association.

  17. Cavernous angioma of the cauda equina: case report Angioma cavernoso de cauda equina: relato de caso

    Directory of Open Access Journals (Sweden)

    Asdrubal Falavigna

    2004-06-01

    Full Text Available We present a rare case of cavernous angioma of the cauda equina and review the eleven cases available in the literature. A 44-year-old woman presented with low back pain and sciatica associated with bowel and bladder dysfunction and motor weakness of the lower extremity. The MRI revealed an enhancing, heterogeneous and hyperintense intradural lesion compressing the cauda equina roots at the L4 level. Laminectomy at L3-L4 and total removal of the tumor were performed without additional neurological deficit. Pathology revealed a cavernous angioma. The literature, clinical presentation, technical examinations, and treatment are reviewed.Relatamos um caso de angioma cavernoso de cauda equina em mulher de 44 anos de idade com sintomas de lombociatalgia associada a fraqueza de membros inferiores e disfunção esfincteriana vesical e anal. Exame de ressonância magnética evidenciou lesão expansiva intradural heterogênea e hiperintensa na cauda eqüina. Indicado tratamento cirúrgico com remoção completa através de laminectomia L3 e L4. O exame anatomopatológico foi compatível com angioma cavernoso. Os onze casos encontrados na literatura são revisados correlacionando a apresentação clínica, tratamento proposto e prognóstico.

  18. Unusual Presentation Of Dapsone Syndrome

    Directory of Open Access Journals (Sweden)

    Singh Prabhas Chandra

    2001-01-01

    Full Text Available A 15 year old girl presented with a rare association of generalized maculopapular rash with exfoliation, hepatic involvement, nephritis, arthralgia and repeated serum sickness type of reaction after taking depsone. The case is reported because of its unusual presentation.

  19. Miller Fisher Syndrome Presenting as Pseudotumor

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2002-05-01

    Full Text Available Two female children, ages 9 and 2 years, who presented with pseudotumor cerebri and within 2 to 3 days, were diagnosed with Miller Fisher syndrome are reported from the Hopital Universitaire des Enfants Reine Fabiola, Brussels, Belgium.

  20. Lethal presentation of neurofibromatosis and Noonan syndrome.

    Science.gov (United States)

    Prada, Carlos E; Zarate, Yuri A; Hagenbuch, Sean; Lovell, Anne; Schorry, Elizabeth K; Hopkin, Robert J

    2011-06-01

    Neurofibromatosis type 1 and Noonan syndrome are both common genetic disorders with autosomal dominant inheritance. Similarities between neurofibromatosis type 1 and Noonan syndrome have been noted for over 20 years and patients who share symptoms of both conditions are often given the diagnosis of neurofibromatosis-Noonan syndrome (NFNS). The molecular basis of these combined phenotypes was poorly understood and controversially discussed over several decades until the discovery that the syndromes are related through disturbances of the Ras pathway. We present an infant male with coarse facial features, severe supravalvar pulmonic stenosis, automated atrial tachycardia, hypertrophic cardiomyopathy, airway compression, severe neurological involvement, and multiple complications that lead to death during early infancy. The severity of clinical presentation and significant dysmorphic features suggested the possibility of a double genetic disorder in the Ras pathway instead of NFNS. Molecular analysis showed a missense mutation in exon 25 of the NF1 gene (4288A>G, p.N1430D) and a pathogenic mutation on exon 8 (922A>G, p.N308D) of the PTPN11 gene. Cardiovascular disease has been well described in patients with Noonan syndrome with PTPN11 mutations but the role of haploinsufficiency for neurofibromin in the heart development and function is not yet well understood. Our case suggests that a double genetic defect resulting in the hypersignaling of the Ras pathway may lead to complex cardiovascular abnormalities, cardiomyopathy, refractory arrhythmia, severe neurological phenotype, and early death. Copyright © 2011 Wiley-Liss, Inc.

  1. Giant malignant peripheral nerve sheath tumor with cauda equina syndrome and subarachnoid hemorrhage: Complications in a case of type 1 neurofibromatosis.

    Science.gov (United States)

    Patil, Tushar B; Singh, Maneesh Kumar; Lalla, Rakesh

    2015-01-01

    Type 1 neurofibromatosis (NF1), which mainly involves ectodermal tissue arising from the neural crest, can increase the risk of developing malignant peripheral nerve sheath tumors (MPNSTs), soft tissue sarcomas and subarachnoid hemorrhage. We describe a patient with neurofibromatosis type 1 who developed soft tissue sarcoma, MPNST, and subarachnoid hemorrhage. A 22-year-old male reported right focal seizures consequence to severe headache. He had a weakness in both legs, could walk only with the support of a stick for the last 3 months and suffered from constipation and intermittent urinary retention for the past 1 week. The patient had a history of swelling in the back of left thigh for which surgical resection was done 6 months back. Cutaneous examination revealed multiple nodules of varying sizes all over the body, along with many café-au-lait spots and Lisch nodule in iris. Patient had weakness in bilateral hip abduction, extension, knee flexion, extension and ankle dorsiflexion and plantiflexion. Bilateral ankle reflexes were absent while other deep tendon reflexes were sub-optimal. A noncontrast computed tomography brain indicated subarachnoid hemorrhage in left perisylvian region. Ultrasound of left thigh showed a hypoechoic solid lesion in the posterior aspect of left thigh in muscle plane. Histopathology of the lesion following resection showed features suggestive of a low-grade pleomorphic rhabdomyosarcoma. Histology of cutaneous nodules was consistent with neurofibroma. Magnetic resonance imaging of the lumbosacral spine demonstrated a tumor arising from cauda equina. Histopathological examination of the tumor suggested high-grade MPNST. Unfortunately, the patient's MPNST was inoperable, and he received palliative radiotherapy for local control of the disease. The care of a patient with neurofibromatosis requires a comprehensive multisystem evaluation. MPNST occurs in 8-13% patients with neurofibromatosis. Early diagnosis and surgical resection are key

  2. Metabolic syndrome among Ghanaian patients presenting with ...

    African Journals Online (AJOL)

    Metabolic syndrome (MetS) is a general risk factor for cardiovascular and chronic kidney disease (CKD) in Western populations. This study assessed the relationship between MetS and its compo-nents in Ghanaian patients presenting with CKD. The study population comprised of 146 non-dialysed individuals with CKD with ...

  3. Colonic adenocarcinoma presenting as hemophagocytic syndrome

    Directory of Open Access Journals (Sweden)

    Murtaza Ali

    2017-01-01

    Full Text Available Hemophagocytic syndrome (hemophagocytic lymphohistiocytosis [HLH] is a rare and potentially fatal disorder characterized by pathological immune activation associated with primary familial disorder, genetic mutation or occurring as a sporadic condition. The later can be secondary to infections, malignancies, or autoimmune diseases. Malignancy-associated HLH is commonly seen in hematological malignancies and rarely with solid organ tumors. We report a case of adenocarcinoma colon presenting as hemophagocytic syndrome. To the best of our knowledge, it is the first case report of HLH secondary to carcinoma colon.

  4. Unusual presentation in Axenfeld-Rieger syndrome

    Directory of Open Access Journals (Sweden)

    Rajul S Parikh

    2011-01-01

    Full Text Available We report an unusual presentation of a case of Axenfeld-Rieger (A-R syndrome. A 14-year-old male presented with gradual dimness of vision for 1 year and redness of left eye for 3 days. The patient had megalocornea with Haab′s striae in the right eye and posterior embryotoxon in both the eyes. In the left eye, there was a white cord-like structure traversing the anterior chamber with adhesions to iris tissue along its course. On two antiglaucoma medications, his intraocular pressure (IOP was 22 mm Hg in the right eye and 18 mm Hg in the left eye. Gonioscopy revealed a cord-like structure originating at the level of Schwalbe′s line. He underwent right eye trabeculectomy with mitomycin-C. This case highlights a rare presentation of a strange cord-like structure, a rare presentation of A-R syndrome.

  5. A Toddler Presenting with Pulmonary Renal Syndrome

    Directory of Open Access Journals (Sweden)

    Florence A. Aeschlimann

    2017-06-01

    Full Text Available Pulmonary renal syndrome refers to an association of pulmonary and glomerular disease and includes disorders, such as the ANCA-associated vasculitides, anti-glomerular basement membrane antibody disease, systemic lupus erythematosus, and IgA vasculitis (Henoch-Schönlein purpura. We present the medical history of a 26-month-old boy with an extensive purpuric rash, involving the limbs, trunk, and face, who developed clinically significant pulmonary hemorrhage and renal involvement. Rapid recognition of this rare but potentially life-threatening condition is crucial. In this report, we discuss the differential diagnosis, diagnostic studies, and treatment options to consider when facing a young child presenting with a pulmonary renal syndrome.

  6. Bardet-Biedl syndrome presenting with steroid sensitive nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    K K Singh

    2015-01-01

    Full Text Available Bardet-Biedl syndrome (BBS is a rare autosomal recessive disorder characterized by postaxial polydactyly, retinitis pigmentosa, central obesity, mental retardation, hypogonadism, and renal involvement. Renal involvement in various forms has been seen in BBS. Cases with nephrotic range proteinuria not responding to steroid have been described in this syndrome. Here we report a case of BBS who presented with nephrotic range proteinuria. The biopsy findings were suggestive of minimal change disease. The child responded well to steroid therapy and remains in remission.

  7. Poland Syndrome. Case Presentation and Bibliographic Review

    Directory of Open Access Journals (Sweden)

    Lidia Torres Aja

    2016-10-01

    Full Text Available Diverse changes in the morphology and structure of the mammary gland have been described as a result of the variation of the regulatory mechanisms of its development. Amastia is one of the less frequent congenital anomalies of the breast and it consists on the total absence of one or both glands. When it is unilateral it is generally also accompanied by the lack of the major and minor pectoral muscle besides other malformations, constituting what is known as Poland Syndrome. A case of a fifteen year old female patient is presented who shows the congenital absence of the right breast. This is the first case of Poland Syndrome diagnosed in Cienfuegos, this is why the publication of this case is considered of interest for the scientific community.

  8. Pheochromocytoma Presenting as Partial HELLP Syndrome

    Directory of Open Access Journals (Sweden)

    Yazan Daaboul

    2015-01-01

    Full Text Available Diagnosis of pheochromocytoma in partial HELLP syndrome is extremely rare. We report a case of a 25-year-old multigravida woman at 30 weeks of gestation who presented with clinical features consistent with partial HELLP syndrome. Her symptoms were not controlled by pharmacologic therapy, and the patient underwent urgent cesarean section. The patient gave birth to a viable baby, but she sustained an episode of ventricular fibrillation intraoperatively that did not result in any long-term sequelae. The patient’s symptoms persisted postoperatively and work-up for secondary etiologies of hypertension demonstrated a right adrenal pheochromocytoma. Following resection, the patient’s signs and symptoms resolved, and her lab tests normalized.

  9. Posterior epidural migration of sequestered lumbar disc fragment causing cauda equina syndrome Migración epidural posterior de fragmento de disco lumbar secuestrado que causa síndrome de cauda equina Migração epidural posterior de fragmento de disco lombar sequestrado que causa síndrome da cauda equina

    National Research Council Canada - National Science Library

    Abolfazl Rahimizadeh; Housain Soufiani; Ava Rahimizadeh

    2013-01-01

    .... Herein two new demonstrative cases will be presented with a brief review of the literature.La migración epidural (PEM) posterior Epidural Migration de fragmento de disco lumbar libre secuestrado es rara...

  10. Miller Fisher syndrome presenting as palate paralysis.

    Science.gov (United States)

    Noureldine, Mohammad Hassan A; Sweid, Ahmad; Ahdab, Rechdi

    2016-09-15

    We report a 63-year old patient who presented to our care initially with a hypernasal voice followed by ataxia, ptosis, dysphonia, and paresthesias. The patient's history, physical examination, and additional tests led to a Miller Fisher syndrome (MFS) diagnosis. Palatal paralysis as an inaugurating manifestation of MFS is quite rare and requires special attention from neurologists and otolaryngologists. Although it may present as benign as an acute change in voice, early diagnosis and prompt management may prevent further complications. Copyright © 2016 Elsevier B.V. All rights reserved.

  11. Heterozygous familial hypercholesterolemia presenting as chylomicronemia syndrome.

    Science.gov (United States)

    Rosenson, Robert S; Najera, Sherwin D; Hegele, Robert A

    Heterozygous familial hypercholesterolemia (HeFH) is characterized by a twofold elevation in low-density lipoprotein cholesterol. Severe elevations in triglycerides are an uncommon manifestation. In this case report, we discuss an atypical presentation of the chylomicronemia syndrome in a patient with HeFH. Genetic analyses of the low-density lipoprotein receptor mutation and single nucleotide polymorphisms that elevate triglycerides provide confirmation for this atypical presentation of HeFH. Copyright © 2016 National Lipid Association. Published by Elsevier Inc. All rights reserved.

  12. Posterior epidural migration of sequestered lumbar disc fragment causing cauda equina syndrome Migración epidural posterior de fragmento de disco lumbar secuestrado que causa síndrome de cauda equina Migração epidural posterior de fragmento de disco lombar sequestrado que causa síndrome da cauda equina

    OpenAIRE

    Abolfazl Rahimizadeh; Housain Soufiani; Ava Rahimizadeh

    2013-01-01

    Posterior epidural migration (PEM) of a sequestered free lumbar disc fragment is rare. The rarity is due to presence of several anatomical restraints which restrict a free fragment to move to the posterior compartment. This unusual presentation of disc herniation appeared in the literature either as a single case report or in small series from two to six cases. Herein two new demonstrative cases will be presented with a brief review of the literature.La migración epidural (PEM) posterior Epid...

  13. Posterior epidural migration of sequestered lumbar disc fragment causing cauda equina syndrome Migración epidural posterior de fragmento de disco lumbar secuestrado que causa síndrome de cauda equina Migração epidural posterior de fragmento de disco lombar sequestrado que causa síndrome da cauda equina

    Directory of Open Access Journals (Sweden)

    Abolfazl Rahimizadeh

    2013-01-01

    Full Text Available Posterior epidural migration (PEM of a sequestered free lumbar disc fragment is rare. The rarity is due to presence of several anatomical restraints which restrict a free fragment to move to the posterior compartment. This unusual presentation of disc herniation appeared in the literature either as a single case report or in small series from two to six cases. Herein two new demonstrative cases will be presented with a brief review of the literature.La migración epidural (PEM posterior Epidural Migration de fragmento de disco lumbar libre secuestrado es rara. La rareza se debe a la existencia de varias restricciones anatómicas impidiendo que el fragmento libre se mueva hacia el compartimento posterior. Esa presentación no común de hernia de disco apareció en la literatura como un relato de caso único o en pequeñas series de dos a seis casos. En este artículo, se presentan dos casos nuevos demostrativos, conjuntamente con una revisión breve de la literatura.A migração epidural posterior (PEM posterior epidural migration de fragmento de disco lombar livre sequestrado é rara. A raridade deve-se à presença de várias restrições anatômicas que impedem que o fragmento livre se mova para o compartimento posterior. Essa apresentação incomum de hérnia de disco apareceu na literatura como relato de caso único ou em pequenas séries de dois a seis casos. Neste artigo, são apresentados dois novos casos demonstrativos, com uma breve revisão da literatura.

  14. Urologic changes after cauda equina compression in dogs.

    Science.gov (United States)

    Bodner, D R; Delamarter, R B; Bohlman, H H; Witcher, M; Biro, C; Resnick, M I

    1990-01-01

    Relative degrees (25%, 50% or 75%) of constriction of the entire cauda equina at the seventh lumbar level were performed on eighteen pure bred female beagle hounds by surgically implanting a circular polyethylene loop with an imbedded stainless steel wire. The wire was mechanically constricted by external control and the degree of compression was confirmed by pre- and postoperative magnetic resonance imaging or computed tomography scanning. A control group of two dogs had laminectomy only. Neurologic function was evaluated daily. Cystometrics were performed on each dog after constriction had been present for three months. Cortical evoked potentials (CEPs) were obtained on all dogs preoperatively, immediately following constriction and at monthly intervals for three months. Dogs were sacrificed at three months and the cauda equina and spinal cord were examined histopathologically. Cystometric tracings were noted to become a flat line with 75% compression of the cord. Less compression had minimal effect on the cystometric curves. The mean latency, determined by cortical evoked potentials, was noted to increase by 3.2%, 7.8%, and 17.2% immediately after 25%, 50% and 75% constriction, respectively. Histologic changes ranged from occasional enlargement of the axons on the periphery of the cauda equina with 25% constriction to severe loss of all axons and atrophic roots at the level of the constricting band with 75% constriction.

  15. Antiphospholipid Antibody Syndrome Presenting with Hemichorea

    Directory of Open Access Journals (Sweden)

    Yezenash Ayalew

    2012-01-01

    Full Text Available A 25-year-old Bangladeshi lady presented to neurology with a three-month history of involuntary movements of her right arm, associated with loss of power. There was progression to the right leg, and she subsequently developed episodes of slurred speech and blurred vision. At the time of presentation, she was 12 weeks pregnant and the symptoms were reported to have started at conception. Past medical history was unremarkable apart from one first trimester miscarriage and there was no significant family history suggestive of a hereditary neurological condition. MRI of the head revealed no abnormalities but serology showed positive antinuclear antibodies (ANAs at a titre of 1/400. Further investigations revealed strongly positive anticardiolipin antibodies (>120 and positive lupus anticoagulant antibodies. The patient had a second miscarriage at 19 weeks gestation strengthening the possibility that the chorea was related to antiphospholipid antibody syndrome and she was started on a reducing dose of Prednisolone 40 mg daily and aspirin 300 mg daily. Six months later, she had complete resolution of neurological symptoms. There are several reports of chorea as a feature of antiphospholipid syndrome, but no clear consensus on underlying pathophysiology.

  16. Cogan's syndrome: present and future directions.

    LENUS (Irish Health Repository)

    Murphy, Grainne

    2009-08-01

    Cogan\\'s syndrome, typified by the combination of interstitial keratitis and immune-mediated sensorineural hearing loss, is a rare condition, and commonly associated with a diagnostic delay. Using a standard search protocol, we review the literature to date, focusing on a number of key areas pertaining to diagnosis, presentation and treatment. Using a case illustration of atypical disease which led to fulminant aortic regurgitation, we highlight the need for continued and collaborative research in order to identify negative prognostic factors and thus tailor therapeutic regimens. Atypical Cogan\\'s syndrome is more commonly associated with systemic manifestations than typical disease, and may be refractory to immunosuppressive treatment. We discuss the application of laboratory (e.g antibodies targeting inner ear antigens) and radiological (PET-CT) aids to disease confirmation and detection of sub-clinical vascular inflammation. As illustrated by the included case description, some patients remain refractory to intense immunosuppression and delineation of adverse prognostic factors which may direct treatment, perhaps including the use of PET-CT, will contribute in the future to improving patient outcomes.

  17. Duane Syndrome. Presentation of a case.

    Directory of Open Access Journals (Sweden)

    Pedra Palmero Aragón

    2010-04-01

    Full Text Available It was carried out an observational descriptive prospective longitudinal study including the period from march 2008 till june 20, 2008 in the Ophthalmology Service of the Provincial Educational Pediatric Hospital: “José Martí Pérez” in Sancti Spiritus, with the objective to identify the clinical and epidemiological characteristics of a patient with Duane Syndrome who went to consultation without receiving previous ophthalmological attention, the diagnosis age was determined, which was tardy, bracket the most affected eye and the kind of Duane, and also if there was any refractive defect and the presence of amblyopia , identifying the criteria for being operated, for collecting data a format was completed by the specialists, which included observation, interrogatory, ophthalmological medical record of the ill person and pictures, these elements allowed us to make a correct analysis. With the previous information we arrived as a conclusion that is all about a patient with 28 years of age who lives in Sancti Spiritus Municipality, with White skin, male, carried on the Duane Syndrome type I, unilateral left. A light Hypermetropia was presented in both eyes as a refractive defect, accompanied by a light bilateral amplyopia in the right eye and moderate in the left eye. It is necessary to stay that the patient was under surgical criterium by esotropia of more than 15 degrees in PPM and unacceptable torticollis although the time of evolution; there were no difficulties related to the surgical act. The postoperative picture can reflect the result of the surgery.

  18. Triple A syndrome presenting with myopathy: An Egyptian patient ...

    African Journals Online (AJOL)

    In this paper we report a 13 year old boy with Allgrove syndrome presenting with muscular weakness that was confi rmed by EMG studies. To our knowledge, muscle disease in Allogrove syndrome was not reported before. Keywords: Allgrove syndrome, triple A syndrome, alacrmia, cardiac achalasia, adrenal insufficiency.

  19. De morseir syndrome presenting as ambiguous genitalia

    Directory of Open Access Journals (Sweden)

    Anubhav Thukral

    2012-01-01

    Full Text Available Background: A 10-year-old boy presented with genital ambiguity, poor linear growth, and delayed milestones. The aim and to highlight that although rare but congenital, hypogonadotropic hypogonadism may rarely present as ambiguity. Materials and Methods: The patient was found to have bilateral cryptorchidism with proximal penile hypospadias, microphallus with a proportionate dwarfism with mildly delayed bone age, and karyotype 46XY. Euthyroid with normal steroid axis, growth hormone insufficient as suggested by auxology, low IGF1, and poor response to clonidine stimulation. MRI brain shows hypoplastic corpus callosum, hypoplastic anterior pituitary, and ectopic posterior pituitary bright spot. Results: The patient underwent laparoscopic removal of right intrabdominal testis and orchidoplexy was performed on the left one. Testicular biopsy revealed no malignancy and growth hormone replacement was initiated. The patient awaits definitive repair of hypospadias. Conclusion: As a provisional diagnosis of combined growth hormone and gonadotropin deficiency, most probable diagnosis is septo-optic dysplasia or de moseir syndrome leading to genital ambiguity.

  20. [Neurologic presentation in haemolytic-uraemic syndrome].

    Science.gov (United States)

    Roche-Martínez, A; Póo, P; Maristany-Cucurella, M; Jiménez-Llort, A; Camacho, J A; Campistol, J

    Haemolytic-uraemic syndrome (HUS) is characterized by microangiopathic hemolytic anaemia, thrombopenia and multiorganic aggression, specially renal, gastrointestinal and central nervous system disturbances. Sporadic in Spain (2/1,500,000 inhabitants), its clinical onset includes acute renal failure, hypertension and central nervous system symptoms (irritability, drowsiness, convulsions, cortical blindness, hemiparesia or coma), due to metabolic distress, hypertension or central nervous system microangiopathy. Few long-term outcome studies have been published. A retrospective analysis of a series of 58 patients with HUS between 1981 and 2006, is reported. Clinical onset, laboratory, electrophysiology, neuroimaging tests, and prognosis factors are reviewed, together with long-term clinical outcome. 22 children presented neurologic symptoms, seven had some neurological test; one patient died; in five some neurological sequelae persisted (hemiparesia, cognitive deficit, visual-perception deficit), the other 16 remaining asymptomatic. Neurological morbility is high in HUS (27% of the children with neurological symptoms), with a 1.7% mortality. Seizure at onset was not a poor prognosis factor in our group. No positive correlation can be established between neuroimaging and long-term outcome.

  1. Lithium Intoxication Presenting as a Mixed Misidentification Syndrome

    Directory of Open Access Journals (Sweden)

    S. G. Potts

    1992-01-01

    Full Text Available A case is reported of lithium intoxication presenting with a mixed misidentification syndrome including features of Capgras syndrome. CT scanning showed cerebral atrophy, greater on the right, consistent with earlier evidence, suggesting that misidentification syndromes are more common with right hemisphere lesions.

  2. Painful bruising syndrome presenting as Persistent haematuria

    Directory of Open Access Journals (Sweden)

    Poonia Ajay

    1992-01-01

    Full Text Available A 35-year old hysterical woman had persistent gross haematuria. She started developing painful ecchymosis 4 years after the onset of haematuria. The diagnosis of painful bruising syndrome was confirmed by intracutaneous sensitivity test and the patient responded excellently to cyproheptadine.

  3. Painful bruising syndrome presenting as Persistent haematuria

    OpenAIRE

    Poonia Ajay; Kalla G; Agrawal R; Kochar D

    1992-01-01

    A 35-year old hysterical woman had persistent gross haematuria. She started developing painful ecchymosis 4 years after the onset of haematuria. The diagnosis of painful bruising syndrome was confirmed by intracutaneous sensitivity test and the patient responded excellently to cyproheptadine.

  4. Arachnoiditis ossificans of the cauda equina.

    Science.gov (United States)

    El Asri, Abad Cherif; El Mostarchid, Brahim; Akhaddar, Ali; Baallal, Hassan; Dao, Ibrahim; Naama, Okacha; Gazzaz, Miloudi; Boucetta, Mohamed

    2012-08-01

    A case of post-traumatic arachnoiditis ossificans of the cauda equina is reported. The lesion is a rare pathological entity usually confined to the thoracic and high lumbar regions that can cause progressive spinal cord and cauda equine compression. The pathophysiology and therapeutic strategy of this rare entity are still controversial.

  5. Munchausen syndrome presenting as major trauma.

    Science.gov (United States)

    Meek, S J; Kendall, J; Cornelius, P; Younge, P A

    1996-01-01

    The case is described of a man who feigned being struck by a vehicle, leading to an unnecessary major trauma response by the ambulance service and hospital. Suspicion that the patient suffered from Munchausen syndrome was confirmed by later investigation. Accident and emergency staff should file details of such patients on the department computer records system, where available, so that staff are alerted automatically to their presence, and share this information with neighbouring hospitals. All such patients should be treated according to ATLS guidelines until injury is ruled out, as for any other patient. Images Figure 1 Figure 2 PMID:8653241

  6. Cowden Syndrome Presenting as Breast Cancer: Imaging and Clinical Features

    Energy Technology Data Exchange (ETDEWEB)

    Seo, Mirinae [Dept. of Radiology, Graduate School of Medicine, Kyung Hee University, Seoul (Korea, Republic of); Cho, Nariya; Moon, Hyeong Gon [Seoul National University Hospital, Seoul National University College of Medicine, Seoul (Korea, Republic of); Ahn, Hye Shin [Dept. of Radiology, Chung-Ang University Hospital, Seoul (Korea, Republic of)

    2014-10-15

    Cowden syndrome is an uncommon, autosomal dominant disease which is characterized by multiple hamartomas of the skin, mucous membrane, brain, breast, thyroid, and gastrointestinal tract. The diagnosis of Cowden syndrome implicates an increased risk of developing breast cancer. We report a case of a 22-year-old woman with Cowden syndrome that presented as breast cancer with concomitant bilateral exuberant benign masses in both breasts.

  7. The Mucus of Actinia equina (Anthozoa, Cnidaria: An Unexplored Resource for Potential Applicative Purposes

    Directory of Open Access Journals (Sweden)

    Loredana Stabili

    2015-08-01

    Full Text Available The mucus produced by many marine organisms is a complex mixture of proteins and polysaccharides forming a weak watery gel. It is essential for vital processes including locomotion, navigation, structural support, heterotrophic feeding and defence against a multitude of environmental stresses, predators, parasites, and pathogens. In the present study we focused on mucus produced by a benthic cnidarian, the sea anemone Actinia equina (Linnaeus, 1758 for preventing burial by excess sedimentation and for protection. We investigated some of the physico-chemical properties of this matrix such as viscosity, osmolarity, electrical conductivity, protein, carbohydrate, and total lipid contents. Some biological activities such as hemolytic, cytotoxic, and antibacterial lysozyme-like activities were also studied. The A. equina mucus is mainly composed by water (96.2% ± 0.3%, whereas its dry weight is made of 24.2% ± 1.3% proteins and 7.8% ± 0.2% carbohydrates, with the smallest and largest components referable to lipids (0.9% and inorganic matter (67.1%. The A. equina mucus matrix exhibited hemolytic activity on rabbit erythrocytes, cytotoxic activity against the tumor cell line K562 (human erythromyeloblastoid leukemia and antibacterial lysozyme-like activity. The findings from this study improve the available information on the mucus composition in invertebrates and have implications for future investigations related to exploitation of A. equina and other sea anemones’ mucus as a source of bioactive compounds of high pharmaceutical and biotechnological interest.

  8. The Mucus of Actinia equina (Anthozoa, Cnidaria): An Unexplored Resource for Potential Applicative Purposes.

    Science.gov (United States)

    Stabili, Loredana; Schirosi, Roberto; Parisi, Maria Giovanna; Piraino, Stefano; Cammarata, Matteo

    2015-08-19

    The mucus produced by many marine organisms is a complex mixture of proteins and polysaccharides forming a weak watery gel. It is essential for vital processes including locomotion, navigation, structural support, heterotrophic feeding and defence against a multitude of environmental stresses, predators, parasites, and pathogens. In the present study we focused on mucus produced by a benthic cnidarian, the sea anemone Actinia equina (Linnaeus, 1758) for preventing burial by excess sedimentation and for protection. We investigated some of the physico-chemical properties of this matrix such as viscosity, osmolarity, electrical conductivity, protein, carbohydrate, and total lipid contents. Some biological activities such as hemolytic, cytotoxic, and antibacterial lysozyme-like activities were also studied. The A. equina mucus is mainly composed by water (96.2% ± 0.3%), whereas its dry weight is made of 24.2% ± 1.3% proteins and 7.8% ± 0.2% carbohydrates, with the smallest and largest components referable to lipids (0.9%) and inorganic matter (67.1%). The A. equina mucus matrix exhibited hemolytic activity on rabbit erythrocytes, cytotoxic activity against the tumor cell line K562 (human erythromyeloblastoid leukemia) and antibacterial lysozyme-like activity. The findings from this study improve the available information on the mucus composition in invertebrates and have implications for future investigations related to exploitation of A. equina and other sea anemones' mucus as a source of bioactive compounds of high pharmaceutical and biotechnological interest.

  9. A Case of Ramsay Hunt Syndrome with Atypical Presentation.

    Science.gov (United States)

    Kayayurt, Kamil; Yavasi, Ozcan; Bilir, Ozlem; Ersunan, Gokhan; Giakoup, Baris

    2014-09-01

    Ramsay Hunt syndrome is a rare complication of herpes zoster which results from the reactivation of the latent varicella-zoster virus in the geniculate ganglion. Although facial nerve is the most common affected nerve in Ramsay Hunt syndrome, other cranial and cervical nerves can also be affected. We present an atypical case of Ramsay Hunt syndrome in a 42-year-old male, with cervical nerve involvement. As spontaneous recovery rate in Ramsay Hunt syndrome is low, early diagnosis and treatment plays a key role in full recovery of paralysis.

  10. Benign intracranial hypertension: atypical presentation of Miller Fisher syndrome?

    OpenAIRE

    Mewasingh, Leena D; Sekhara, Tayeb; Dachy, Bernard; Djeunang, Maurice; Dan, Bernard

    2002-01-01

    Acute ocular paresis, nausea, vomiting, and headaches associated with high intracranial pressure without obvious intracranial pathology are typical features of benign intracranial hypertension. We describe two young children whose presentation, initially suggestive of idiopathic or benign intracranial hypertension, evolved to comprise ophthalmoplegia, ataxia, and areflexia. This triad characterizes Miller Fisher syndrome, a clinical variant of Guillain-Barré syndrome that occurs rarely among ...

  11. Presentation of Depression in Autism and Asperger Syndrome: A Review

    Science.gov (United States)

    Stewart, Mary E.; Barnard, Louise; Pearson, Joanne; Hasan, Reem; O'Brien, Gregory

    2006-01-01

    Depression is common in autism and Asperger syndrome, but despite this, there has been little research into this issue. This review considers the current literature on the prevalence, presentation, treatment and assessment of depression in autism and Asperger syndrome. There are diagnostic difficulties when considering depression in autism and…

  12. Munchausen syndrome by proxy presenting as hearing loss.

    Science.gov (United States)

    Ashraf, N; Thevasagayam, M S

    2014-06-01

    To review the diagnosis of Munchausen syndrome by proxy, a factitious disorder, in which symptoms are induced or feigned, usually in a child, by the caregiver. The involved caregiver seeks to gain attention or sympathy and often has a psychological need to maintain the sick role. We highlight the diagnostic difficulties and factors that may help with diagnosis in an otolaryngology setting. We present the case of Munchausen syndrome by proxy presenting with hearing loss in a five-year old boy, who was diagnosed eight years after his initial presentation. A literature review of Munchausen syndrome by proxy cases presenting with ENT symptoms is provided. Munchausen syndrome by proxy is a diagnosis that otolaryngologists should be aware of, particularly where recurrent or persistent illnesses in children, especially those involving otological symptoms, are refractory to the usual treatments.

  13. Capgras syndrome presenting in an adolescent girl in the Caribbean.

    Science.gov (United States)

    Gibson, R C; Lowe, G A; Morgan, K A D; Henryl, M; De La Haye, W; Irons, A

    2013-01-01

    The case of a 16-year old Jamaican girl who presented to the psychiatric service of a general hospital with features of Capgras syndrome is presented. Her history, treatment, progress and relevant psychodynamic and neurocognitive issues are explored. This is the first known published case of an adolescent with Capgras syndrome from the Caribbean. The case highlights that the syndrome may occur in different cultural contexts and that clinicians should be sensitive to its existence in order to avert under-diagnosis or misdiagnosis.

  14. Early Onset Marfan Syndrome: Atypical Clinical Presentation of Two Cases

    Directory of Open Access Journals (Sweden)

    Ozyurt Abdullah

    2015-06-01

    Full Text Available Early onset Marfan Syndrome (eoMFS is a rare, severe form of Marfan Syndrome (MFS. The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system.

  15. Raeder syndrome: Paratrigeminal oculosympathetic syndrome presenting as a manifestation of chronic sinusitis.

    Science.gov (United States)

    Pritchett, Cedric V; Zacharek, Mark A

    2015-12-01

    Raeder syndrome (paratrigeminal oculosympathetic syndrome) is a rare clinical entity characterized by ipsilateral trigeminal sensory deficits, ptosis, and miosis, with an absence of anhidrosis secondary to interruption of the postganglionic oculosympathetic pathway. Going back to its original description, this constellation of physical examination findings has historically been associated with intracranial pathology involving the middle cranial fossa. Understanding this pathway is important in distinguishing Raeder syndrome from Horner syndrome, as the presentation of the former is now recognized to accompany a number of other disease entities in the head and neck region. We present an unusual case of Raeder syndrome associated with bacterial sinusitis, and we discuss its management and review the literature.

  16. Marfan's syndrome presenting with abdominal aortic aneurysm: A ...

    African Journals Online (AJOL)

    We present the case of a 16-year old student with Marfan's syndrome and abdominal aortic aneurysm who presented with a diagnostic conundrum. He presented with a three months history of progressive painful left upper abdominal mass and back pain. It became severe in the last two weeks before presentation and was ...

  17. Atypical presentation of HELLP syndrome: clinical case report

    Directory of Open Access Journals (Sweden)

    Juan Manuel Tobar Parra

    2017-12-01

    Full Text Available Objective: To describe a case of HELLP syndrome with atypical presentation form. Background: HELLP syndrome is a complication of preeclampsia, characterized by: haemolysis, elevation of liver enzymes and thrombocytopenia; Can present atypical, without hypertension or proteinuria, 10-20% of the cases. Case report: 38 year old female patient, with a pregnancy of 38.5 weeks of gestation, treated at the Hospital Universitario San José de Popayán (Colombia. Atypical HELLP syndrome is diagnosed in a pregnant woman with thrombocytopenia, impaired liver enzymes, but no evidence of proteinuria or hypertension. Gestation is terminated by cesarean section and magnesium sulfate is given for 24 hours, with adequate post-surgical evolution, clinical improvement of the symptomatology presented, normalization of liver enzymes and platelet elevation. Conclusion: Knowledge of this syndrome, although of rare occurrence, allows a fast action, an effective diagnosis and treatment, to avoid morbidity and greater maternal fetal mortality.

  18. Lipogranulomatous subconjunctival nodules: a novel presentation in Blau syndrome.

    Science.gov (United States)

    Ahmad, Mariam; Hermanson, Meghan E; Enzenauer, Robert; Palestine, Alan; Lin, Clara; Meeks, Naomi; McCourt, Emily

    2017-06-01

    Blau syndrome is an early-onset granulomatous disease known to affect the skin, joints, and eyes. We report a child with diffuse rash, arthritis, and subconjunctival nodules. Biopsy of the bulbar conjunctiva revealed noncaseating lipogranulomas that lead to a diagnosis of Blau syndrome. To our knowledge, noncaseating lipogranulomas of the conjunctiva have not been reported previously as a presenting finding in Blau syndrome. Although uveitis is the classic manifestation, it is important to broaden the awareness of other ocular signs, as these variations can aid in diagnosis. Copyright © 2017 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

  19. Atypical Presentation of Sjögren-Larsson Syndrome

    Directory of Open Access Journals (Sweden)

    D. Papathemeli

    2017-01-01

    Full Text Available Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95. This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if intelligence is normal.

  20. Munchausen Syndrome: A Case with Presenting Sudden Hearing Loss

    Directory of Open Access Journals (Sweden)

    Murat Ozturk

    2013-04-01

    Full Text Available Munchausen syndrome is a psychiatric disorder that patients direct professionals with plausible, feigned, factitious symptoms. It%u2019s uncommon in otolaryngology clinics. We present a patient, complaint with sudden hearing loss and vertigo, and who underwent additional medical and invasive treatment in this paper. Patients with Munchausen syndrome allow invasive medical care easily, and they can be very convincing. It has to be diagnosed and kept in mind because of avoiding from unnecessary treatment.

  1. A case of delayed presentation of thigh compartment syndrome.

    Science.gov (United States)

    Wardi, Gabriel; Görtz, Simon; Snyder, Brian

    2014-05-01

    Thigh compartment syndrome is a rare and devastating process. It generally occurs within hours to days of a traumatic event, although cases have been reported nearly 2 weeks after the initial event. To evaluate the literature describing the timing between inciting event and presentation of thigh compartment syndromes, with a focus on delayed presentations of this rare condition. To describe the unique properties of thigh compartments, and finally, to review the anatomy and techniques needed to measure the compartment pressures of the thigh. A case of a 54-year-old man is presented. He sustained trauma to his thigh 17 days prior to presenting to our ED with severe, sudden-onset pain in his right thigh. Compartment pressures were measured and confirmed the diagnosis of compartment syndrome caused by two large intramuscular hematomas. No other contributing events were identified. Compartment syndrome in the thigh should be considered in patients with a concerning examination and a history of recent trauma. This particular case represents the longest reported time between injury and development of a thigh compartment syndrome. Copyright © 2014 Elsevier Inc. All rights reserved.

  2. Unusual presentation of Lemierre's syndrome: two cases and a review

    NARCIS (Netherlands)

    van Wissen, Matthijs; Gerdes, Victor E. A.; van Gorp, Eric C. M.; Brandjes, Dees P. M.; Soesan, Marcel

    2009-01-01

    Lemierre's syndrome is a potentially fatal disease that usually presents with oropharyngeal infection, followed by sepsis, thrombosis of the internal jugular vein and septic emboli. Most cases are caused by the Gram-negative, anaerobic Fusobacterium necrophorum. We present two patients with an

  3. An unusual ocular presentation of acquired immune deficiency syndrome

    Directory of Open Access Journals (Sweden)

    Arunachalam Cynthia

    2008-01-01

    Full Text Available A 50-year-old male who presented with bilateral keratomalacia and on subsequent evaluation was found to be human immunodeficiency virus (HIV positive is being reported. A MEDLINE search of the literature did not reveal any report of keratomalacia as the initial presenting feature of HIV/ acquired immune deficiency syndrome.

  4. Steinert's syndrome presenting as anal incontinence: a case report

    Directory of Open Access Journals (Sweden)

    Uzum Ayse

    2011-08-01

    Full Text Available Abstract Introduction Myotonic dystrophy (MD or Steinert's syndrome is a rare cause of chronic diarrhea and anal incontinence. In the presence of chronic diarrhea and fecal incontinence with muscle weakness, neuromuscular disorders such as myotonic dystrophy should be considered in the differential diagnosis. Case Presentation We present the case of a 45-year-old Turkish man with Steinert's syndrome, who was not diagnosed until the age of 45. Conclusions In clinical practice, the persistence of diarrhea and fecal incontinence with muscle weakness should suggest that the physician perform an anal manometric study and electromyography. Neuromuscular disorders such as myotonic dystrophy should be considered in the differential diagnosis.

  5. [Systemic lupus erythematosus presenting as Stevens-Johnson syndrome].

    Science.gov (United States)

    Bellakhal, S; Ben Kaab, B; Teyeb, Z; Souissi, A; Derbel, F; Douggui, M-H

    2015-09-01

    Stevens-Johnson syndrome and toxic epidermal necrolysis are life-threatening dermatological conditions. Their most common cause is medication. However, in a small proportion of patients these dermatological conditions could be the first presentation of systemic lupus erythematosus. We now describe a 34-year-old patient who presented with manifestations of Stevens-Johnson as a first feature of systemic lupus erythematosus. Systemic lupus erythematosus reveled by Stevens-Johnson syndrome has been infrequently reviewed in the previous literature. This diagnosis should be considered when cutaneous adverse drug reactions occur without clear drug causality. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  6. Cavernous angioma of the cauda equina: a case report and systematic review of the literature.

    Science.gov (United States)

    Nie, Q-B; Chen, Z; Jian, F-Z; Wu, H; Ling, F

    2012-01-01

    Cavernous angioma is an uncommon vascular malformation of the central nervous system with a tumoural aspect. Spinal cavernous angioma mainly occurs within vertebral bodies; only 3-5% of tumours are located entirely in the vertebral canal. This case report describes a case of cavernous angioma, originating from the nerve roots of the cauda equina at the L1 level, in a 57-year-old woman presenting with acute lower back pain. The lesion was surgically resected 6 months after symptom onset and the structural integrity of the nerve root was maintained. Histopathological examination confirmed the diagnosis of cavernous angioma. The patient experienced no postoperative neurological deficit or recurrence. The diagnosis, histopathological features and surgical treatment of this case are presented, together with a literature review of clinical details and surgical procedures undertaken in cases of cavernous angioma of the cauda equina.

  7. Sheehan’s syndrome presenting as psychosis: a rare clinical presentation

    Directory of Open Access Journals (Sweden)

    Sheikh Shoib

    2013-02-01

    Full Text Available  Abstract Sheehan’s syndrome (SS refers to the occurrence of varying degree of hypopituitarism after parturition (1. It is a rare cause of hypopituitarism in developed countries owing to advances in obstetric care and its frequency is decreasing worldwide. However, it is still frequent in underdeveloped and developing countries. Sheehan’s syndrome is often diagnosed late as it evolves slowly (2,3. Reports of psychoses in patients with Sheehan’s syndrome are rare. Herein, a case report of psychosis in a 31 year old woman who developed Sheehan’s syndrome preceded by postpartum haemorrhage is presented. Treatment with thyroxine and glucocorticoids resulted in complete remission after attaining euthyroid and eucortisolemic state. 

  8. Magnetic resonance imaging of racemous cysticercosis of the cauda equina; Ressonancia magnetica de paciente com cisticercose racemosa da cauda equina

    Energy Technology Data Exchange (ETDEWEB)

    Costa Junior, Leodante Batista da; Lemos, Sandro Pedroso [Hospital da Baleia, Belo Horizonte, MG (Brazil). Servico de Neurocirurgia; Lambertucci, Jose Roberto [Minas Gerais Univ., Belo Horizonte, MG (Brazil). Faculdade de Medicina. Servico de Doencas Infecciosas e Parasitarias

    2003-12-01

    37-year-old man presented with low back pain for the last 6 months followed by sensation of numbness in the lower limbs that evolved with paraparesis, urinary retention and impotence. Subsequently, he lost control over the bowel function. Neurological examination revealed increased muscle tone along with grade zero power in both lower limbs. Knee and ankle jerks were exaggerated. Nine months prior to admission, a type II diabetes mellitus was diagnosed and he has been taking insulin ever since. MRI revealed multiple cystic lesions in the cauda equina opposite the L1-S1 vertebral bodies with no involvement of the spinal cord (Figure A: sagittal section T1-weighted image after contrast with cystic lesions on the left side - yellow arrow -, and T2-weighted image on the right - red arrows pointing cystic lesions). The cysts were hypointense on T1-weighted images (Figure B: horizontal section - yellow arrows) and hyperintense in T2-weighted images (Figure A - red arrows). Computerized tomography of the brain showed moderate ventricle dilatation (Figure C) with no intra or extra axial lesions. He was submitted to laminectomy and the cysts were surgically removed. An intense inflammatory process (arachnoiditis) involving the nerve roots of the cauda equina was reported. Histology of the surgical specimen confirmed the diagnosis of racemous cysticercosis. He improved quickly after surgery. Three months later, at the outpatient clinic, he walked with support, resumed sphincter control of the bladder and bowel and had no more pain. Ten months later he returned to hospital walking with crutches, with hypoesthesia and paraesthesia on the left leg and urinary incontinence. He refused treatment with albendazole and steroids. (author)

  9. Advanced Prostate Cancer Presenting as Hemolytic Uremic Syndrome

    OpenAIRE

    Ramos, R.; Lopes, F.; Rodrigues, T.; Rolim, N.; Rodrigues, I.; Monteiro, H.

    2013-01-01

    Introduction. Hemolytic uremic syndrome (HUS) is characterized by endothelial dysfunction, consumption thrombocytopenia, microangiopathic hemolytic anemia, and acute renal failure. HUS generally has a dismal prognosis, except when associated with gastroenteritis caused by verotoxin-producing bacteria. Cancer associated HUS is uncommon, and there are only scarce reports on prostate cancer presenting with HUS. Case Presentation. A 72-year-old man presented to the emergency department with oligu...

  10. Ocular Dysfunctions Presenting in Tacrolimus-Induced Posterior Reversible Encephalopathy Syndrome: A Case Presentation.

    Science.gov (United States)

    Brown, Cora H; Feng, Alexander J; Cruz, Ernesto

    2017-09-12

    The constellation of ocular symptoms known as Balint syndrome is a rare disorder seen in bilateral parieto-occipital lesions and is most frequently due to arterial occlusive disease or acute hypertension. Here we present the case of a patient with tacrolimus-induced posterior reversible encephalopathy syndrome (PRES) who presented with optic ataxia, simultanagnosia, and ocular apraxia. These ocular findings, consistent with Balint syndrome, are rarely the initial presentation of PRES. This case highlights the importance of early recognition of this unusual phenomenon, as well as the importance of an individualized rehabilitation plan to maximize functional independence in these patients. To be determined. Copyright © 2017 American Academy of Physical Medicine and Rehabilitation. Published by Elsevier Inc. All rights reserved.

  11. [Prevalence and determinants of atypical presentation of acute coronary syndrome].

    Science.gov (United States)

    Pinto, David; Lunet, Nuno; Azevedo, Ana

    2011-12-01

    Knowledge of the characteristics of patients with atypical presentation of acute coronary syndromes may contribute to increased sensitivity in diagnosis in a given population. The purpose of this study is to quantify the prevalence of atypical presentation, to identify its determinants, and to describe the presenting symptoms in cases of acute coronary syndrome at the emergency department of Hospital São João, Porto. Systematic sample of 288 emergency admissions with a confirmed diagnosis of acute coronary syndrome in 2007. Atypical presentation was defined as absence of chest pain and/or syncope. The prevalence of atypical presentation was 20.5% [95% confidence interval (CI): 16.0 to 25.5], with no important variation by gender. It increased with age and was more frequent in cases of ST-segment elevation myocardial infarction. In multivariate analysis, atypical presentation was associated with age [>70 versus ≤ 50 years, odds ratio (OR)=3.45; 95%CI: 1.03-11.61] and it was about four times less likely in the presence of history of ischemic heart disease, hypertension, dyslipidemia and smoking. A history of heart failure was independently associated with a higher likelihood of acute coronary syndrome with atypical presentation (OR = 4.15, 95%CI 1.50-11.46). Among the 223 cases who had chest pain or discomfort, a growing, oppressive, prolonged (longer than 30 minutes), recurrent and episodic pain prevailed. Among other symptoms, dyspnea was the most frequently reported, either as the main symptom in cases of atypical presentation or concurrently with typical symptoms. Factors associated with atypical presentation are consistent with those described in other populations. Using routine clinical data allowed access to a large data base on a representative sample of patients admitted to the emergency department of a third-level hospital that serves a large part of the local urban population. In medical records, data are unstandardized and heterogeneous in validity

  12. Hemolytic uremic Syndrome.Presentation of case | Sanchez ...

    African Journals Online (AJOL)

    Journal of the Eritrean Medical Association. Journal Home · ABOUT THIS JOURNAL · Advanced Search · Current Issue · Archives · Journal Home > Vol 2, No 1 (2007) >. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register. Hemolytic uremic Syndrome.Presentation of ...

  13. Caudal Regression Syndrome/neurogenic bladder presented as ...

    African Journals Online (AJOL)

    Burhan M. Edrees

    Caudal Regression Syndrome/neurogenic bladder presented as recurrent urinary tract infection. Burhan M. Edrees. Department of Pediatrics, Medical College, Umm Al-Qura University, Saudi .... The pulse rate was 129 per minute, respiratory rate was 40 per ... strated abnormalities in the structures and functions of the renal.

  14. Ward Round - Late Presentation of Acute Compartment Syndrome in ...

    African Journals Online (AJOL)

    following the course of ibuprofen mentioned. Twelve days after admission he started to complain of increasing pain and tightness in his left thigh. Sensation and motor function. Ward Round - Late Presentation of Acute. Compartment Syndrome in the Thigh. University of Malawi, College of Medicine, Department of Surgery,.

  15. Infective endocarditis presenting as acute coronary syndrome | El ...

    African Journals Online (AJOL)

    We report tow cases of infective endocarditis (IE) presenting as acute coronary syndrome (ACS). Case 1: A 60-year-old man with the diagnosis of mitral IE complicated by an ST segment elevation myocardial infarction. Primary percutaneous coronary intervention with aspiration of the thrombus at the distal leftanterior ...

  16. Pattern of Presentation of Multiple Organ Dysfunction Syndrome in ...

    African Journals Online (AJOL)

    Background: Multiple organ dysfunction syndrome is the sequential failure of several organ systems after a trigger event, like sepsis, massive transfusions, burns, trauma and cardiogenic shock. Aim and Objectives- The pattern of presentation of multiple organ dysfunction and the risk factors associated with multiple organ ...

  17. Terson's syndrome in a pregnant woman: A fatal presentation

    Directory of Open Access Journals (Sweden)

    Chui Yain Chen

    2012-01-01

    Full Text Available Terson's syndrome is a condition of vitreous haemorrhage occurring in association with subarachnoid haemorrhage (SAH. This condition is uncommon during pregnancy. We report a fatal case of Terson's syndrome in a pregnant lady. She presented with an episode of seizure and complained of blurring of vision in the right eye after the seizure. Examination revealed subhyaloid haemorrhage in the right eye. The left fundus was normal. Subsequent investigations revealed a posterior communicating artery aneurysm. We would like to highlight that any case of non-traumatic vitreous haemorrhage with neurological symptoms and signs must be worked up as neuro-ophthalmic emergency.

  18. An Unusual Presentation of Zollinger-Ellison Syndrome

    Directory of Open Access Journals (Sweden)

    Emanuele Sinagra

    2013-01-01

    Full Text Available Zollinger-Ellison syndrome is an often progressive, persistent and frequently life-threatening disease, described for the first time as characterized by ulceration of the upper jejunum, hypersecretion of gastric acid and non-beta islet cell tumors of the pancreas; this syndrome is due to the hypersecretion of gastrin. We report a case of Zollinger-Ellison syndrome presenting as severe esophagitis evolving in stenosis, which demonstrates how a delayed diagnosis may induce risk of disease spreading. In this setting new diagnostic approaches, such as somatostatin receptor scanning and positron emission tomography with 68 Ga-labeled octreotide, could be particularly useful, as well as further new therapeutic options, such as molecular targeted treatments and peptide receptor radionuclide therapy, though surgery is currently the only form of curative treatment, and the role of the therapeutic options mentioned needs to be clarified by forthcoming studies.

  19. Leukemic meningitis involving the cauda equina: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Dong Hyun; Kim, Ho Kyun; Lee, Young Hwan [School of Medicine, Catholic University of Daegu, Daegu (Korea, Republic of)

    2008-07-15

    The CNS involvement by leukemia may either be meningeal or parenchymal, although meningeal infiltration of leukemic cells, known as leukemic meningitis is more common. We report a case of leukemic meningitis involving the cauda equina in a patient with an acute lymphoblastic crisis which transformed from the chronic phase of chronic myeloid leukemia. An MR image revealed diffuse enlargement and peripheral ring enhancement of the nerve roots of the cauda equina.

  20. Ocular infection of donkeys (Equus asinus) with Setaria equina.

    Science.gov (United States)

    Marzok, Mohamed A; Desouky, Abdel-Razek Y

    2009-08-01

    Seven donkeys raised in different locations in Egypt were found to have a unilateral eye showing motile white worms in the aqueous humor. The parasites were surgically removed from the anterior chamber of the eye in five out of the seven donkeys, and were cleared, mounted and identified as Setaria equina based on light microscopic features. The ocular infection with S. equina reported herein may be the first reported aberrant cases in the Egyptian animals.

  1. Childhood allergic bronchopulmonary aspergillosis presenting as a middle lobe syndrome

    OpenAIRE

    Shah, Ashok; Gera, Kamal; Panjabi, Chandramani

    2016-01-01

    Allergic bronchopulmonary aspergillosis (ABPA) is infrequently documented in children with asthma. Although collapse is not uncommon, middle lobe syndrome (MLS) as a presentation of ABPA is rather a rarity. A 9-year-old female child with asthma presented with increase in intensity of symptoms along with a right midzone patchy consolidation on a chest radiograph. In addition, an ill-defined opacity abutting the right cardiac border with loss of cardiac silhouette was noted. A right lateral vie...

  2. Herlyn-Werner-Wunderlich syndrome: An unusual presentation with pyocolpos.

    Science.gov (United States)

    Jung, Eun Jung; Cho, Moon Hyeong; Kim, Da Hyun; Byun, Jung Mi; Kim, Young Nam; Jeong, Dae Hoon; Sung, Moon Su; Kim, Ki Tae; Lee, Kyung Bok

    2017-07-01

    Herlyn-Werner-Wunderlich syndrome is a rare congenital anomaly of the urogenital tract, which is characterized by the triad of uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. It usually presents at puberty with pelvic pain, dysmenorrhea, and a vaginal or pelvic mass. Although rare, it may present with purulent vaginal discharge due to secondary infection of the obstructed hemivagina, making diagnosis difficult. A careful pelvic examination to identify the cervix and vagina is the key to the diagnosis of Müllerian duct anomalies and magnetic resonance imaging can provide additional useful information. The optimal treatment is full excision and marsupialization of the obstructing vaginal septum so that both uteri can drain through the patent vagina. The authors report a case of a 22-year-old female with an unusual presentation of Herlyn-Werner-Wunderlich syndrome complicated by pyocolpos, which was successfully managed by vaginal septum resection and drainage of pus.

  3. Spinal intradural cystic venous angioma originating from a nerve root in the cauda equina.

    Science.gov (United States)

    Nishimura, Yusuke; Hara, Masahito; Natsume, Atsushi; Nakajima, Yasuhiro; Fukuyama, Ryuichi; Wakabayashi, Toshihiko; Ginsberg, Howard J

    2013-12-01

    A spinal intradural extramedullary venous angioma is extremely rare and has not been previously reported. In this paper, the authors report on this entity with morphological and immunohistochemical evidence, and discuss the surgical strategy for its treatment. A 54-year-old woman presented to Nagoya University Hospital complaining of left-sided pain in the hip, thigh, and inguinal and perianal regions, with progressive worsening during the previous 2 weeks. Lumbar spine MRI showed an intradural extramedullary cyst at the level of T12-L1, which extended from the conus medullaris to the cauda equina. The cyst wall was not enhanced on T1-weighted MRI with Gd. Intraoperatively, a midline dural opening allowed the authors to easily visualize a dark-reddish cyst behind the spinal nerve rootlets in the cauda equina adjacent to the conus medullaris. The cyst was believed to originate from one of the spinal nerve rootlets in the cauda equina and a cluster of veins was identified on the cyst wall. The cyst was resected with the affected nerve rootlet. The surgery left no detectable neurological deficit. Based on the morphological and immunohistochemical evidence, the lesion was diagnosed as a venous angioma. No tumor recurrence was confirmed based on MRI at the time of the 2-year follow up. This is the first report of an intradural extramedullary cystic venous angioma that was successfully resected.

  4. A Case of Paraneoplastic Cushing Syndrome Presenting as Hyperglycemic Hyperosmolar Nonketotic Syndrome

    Directory of Open Access Journals (Sweden)

    Christina E. Brzezniak

    2017-04-01

    Full Text Available Carcinoid tumors are neuroendocrine tumors that mainly arise in the gastrointestinal tract, lungs, and bronchi. Bronchopulmonary carcinoids have been associated with Cushing syndrome, which results from ectopic adrenocorticotrophic hormone (ACTH secretion. We report the case of a 65-year-old man, a colonel in the US Air Force, with metastatic bronchopulmonary carcinoid tumors treated on a clinical trial who was hospitalized for complaints of increasing thirst, polydipsia, polyuria, weakness, and visual changes. Decompensated hyperglycemia suggested a diagnosis of hyperglycemic hyperosmolar nonketotic syndrome (HHNS. Additional findings, which included hypokalemia, hypernatremia, hypertension, metabolic alkalosis, moon facies, and striae, raised a red flag for an ectopic ACTH syndrome. Elevated ACTH levels confirmed Cushing syndrome. Treatment with a fluid replacement and insulin drip resulted in immediate symptomatic improvement. Cushing syndrome should be considered in carcinoid patients with physical stigmata such as moon facies and striae. HHNS may be the presenting clinical feature in patients with impaired glucose metabolism.

  5. Obesity as a Presentation of Munchausen Syndrome by Proxy.

    Science.gov (United States)

    Nogueira-de-Almeida, Carlos Alberto; de Almeida, Carla Cristina J N; Pereira, Natália Inocêncio; de Souza Filho, Nilton Antonio; de Oliveira, Valmir Aparecido

    2017-04-17

    To describe a case of an obese child whose weight gain was related to the Munchausen Syndrome by proxy (MSP). This is a case report including information regarding the child's clinical history and the mother's behavior. The common features of the syndrome are confronted with the description of the case, seeking to demonstrate the similarities. The description ratifies the diagnosis based on the signs and symptoms presented by the child (<5 years old, frequent contacts with health system, symptoms witnessed only by the mother, confusing findings, not helped by treatments, emotionally distant father) and the attitude of the mother (concerned, interested in procedures, comfortable in the medical setting, higher medical knowledge, hostile when thwarted). The case presented points to a new etiology, the MSP, to be considered within the set of factors currently known to cause and maintain obesity in childhood.

  6. Idiopathic Atypical Haemolytic Uraemic Syndrome presenting with acute dystonia

    LENUS (Irish Health Repository)

    Maduemem, Rizwan K E

    2017-09-01

    Hemolytic Uremic Syndrome (HUS), a triad of microangiopathic hemolytic anemia, thrombocytopenia and acute kidney injury. The atypical HUS (aHUS) results from over activation of complement system with formation of micro thrombi and damage to endothelial cells resulting in renal impairment in 50 % and death in 25 %, commonly in untreated patients. We report an intriguing case of aHUS presenting with acute onset of movement disorder and fluctuating delirium.

  7. Guillain-Barre Syndrome Presenting as Acute Abdomen

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    Faruk incecik

    2015-09-01

    Full Text Available Guillain-Barr and eacute; syndrome (GBS is the most common cause of acute flaccid paralysis in childhood. Symmetric weakness, headache, respiratory symptom, neuropathic pain, muscle pain, paresthesia, and facial palsy were the most common clinical presentations. We report 13-year-old boy with GBS who presented with acute abdominal pain. This is the first report, to our knowledge, first presented of acute abdomen of a pediatric patient with GBS. [Cukurova Med J 2015; 40(3.000: 601-603

  8. A Case of Ramsay Hunt Syndrome with Atypical Presentation

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    Kamil KAYAYURT

    2014-09-01

    Full Text Available SUMMARY: Ramsay Hunt syndrome is a rare complication of herpes zoster which results from the reactivation of the latent varicella-zoster virus in the geniculate ganglion. Although facial nerve is the most common affected nerve in Ramsay Hunt syndrome, other cranial and cervical nerves can also be affected. We present an atypical case of Ramsay Hunt syndrome in a 42-year-old male, with cervical nerve involvement. As spontaneous recovery rate in Ramsay Hunt syndrome is low, early diagnosis and treatment plays a key role in full recovery of paralysis. ÖZET: Ramsay Hunt sendromu, varisella-zoster virüsün latent olarak kaldığı genikulat ganglionda aktifleşmesiyle oluşan herpes zosterin nadir bir komplikasyonudur. Ramsay Hunt sendromunda fasiyal sinir en sık etkilenen sinir olmasına rağmen diğer kraniyal sinirler ve servikal sinirler de tutulabilir. Bu yazıda, 42 yaşındaki erkek hastada servikal tutulumun da eşlik ettiği atipik bir Ramsay Hunt sedromu olgusu sunuldu. Ramsay Hunt sedromunda spontan iyileşme oranları düşük olduğundan bu hastaların tanılarının erken dönemde konması ve tedavilerinin hemen başlanması paralizinin tam olarak iyileşmesinde kilit role sahiptir. Key words: Facial palsy, Ramsay Hunt syndrome, varicella-zoster virus, Anahtar sözcükler: Fasiyal paralizi, Ramsay Hunt sendromu, varisella-zoster virüs

  9. A Case Report of Munchausen Syndrome by Proxy Presenting as Acquired Symptomatic West Syndrome

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    Shridhar Jadhav

    2016-07-01

    Full Text Available Munchausen Syndrome By Proxy (MSBP is an extremely complicated diagnosis because of the difficulty in finding the incriminating evidence of its existence and because of the ethical issue it raises for caregivers. Its implications from a medical, psychological and legal point of view raise difficult questions for any professional confronted to it. We present a case of 8 month female infant who was diagnosed to have Hyperinsulinism causing hypoglycemic brain injury and later developing intractable convulsion with head drops, where EEG was suggestive of West Syndrome, was actually a case of Munchausen syndrome by proxy to start with.

  10. Unusual presentation of uncommon disease: anorexia nervosa presenting as wernicke-korsakoff syndrome-a case report from southeast Asia.

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    Mushtaq, Raheel; Shoib, Sheikh; Shah, Tabindah; Bhat, Mudasir; Singh, Randhir; Mushtaq, Sahil

    2014-01-01

    Anorexia nervosa presenting as Wernicke-Korsakoff syndrome is rare. The causes of Wernicke-Korsakoff syndrome are multiple like alcohol abuse, thyrotoxicosis, haemodialysis, severe malnutrition because of gastric carcinoma and pyloric obstruction, hyperemesis gravidarum, and prolonged parenteral feeding. We report a case of anorexia nervosa, who presented with Wernicke's encephalopathy and progressed to Korsakoff's syndrome. Knowledge, awareness, and early intervention of anorexia nervosa by mental health professionals can prevent development of Wernicke-Korsakoff syndrome.

  11. Miller Fisher syndrome--an uncommon clinical presentation.

    Science.gov (United States)

    Santra, Gouranga; Datta, A K

    2008-11-01

    Miller Fisher syndrome is an uncommon disease and it is a variant of Guillain-Barre syndrome. Miller Fisher syndrome also has rarer variants. Combined features of classic Guillain-Barre syndrome and Miller Fisher syndrome are uncommon. Here we are reporting a case of Miller Fisher variant with Guillain-Barre syndrome overlap in which ataxia, are flexia, oculomotor disturbance and limb weakness occurred within few days.

  12. Unusual presentation of prune belly syndrome: a case report.

    Science.gov (United States)

    Demisse, Abayneh Girma; Berhanu, Ashenafi; Tadesse, Temesgen

    2017-12-04

    Prune belly syndrome is a rare congenital malformation of unknown etiology, with the following triad of findings: abdominal muscle wall weakness, undescended testes, and urinary tract abnormalities. In most cases, detection of prune belly syndrome occurs during neonatal or infancy period. In this case report, we describe a 12-year-old boy from Ethiopia with the triad of findings of prune belly syndrome along with skeletal malformations. We are unaware of any previous report of prune belly syndrome in Ethiopia. A 12-year-old Amhara boy from the Northwest Gondar Amhara regional state presented to our referral hospital with a complaint of swelling over his left flank for the past 3 months. Maternal pregnancy course and medical history were noncontributory, and he had an attended birth at a health center. He has seven siblings, none of whom had similar symptoms. On examination he had a distended abdomen, asymmetric with bulging left flank, visible horizontal line, upward umbilical slit, and absent rectus abdominis muscles. His abdomen was soft with a tender cystic, bimanually palpable mass on the left flank measuring 13 × 11 cm. Both testes were undescended and he also has developmental dysplasia of the hips. An abdominal ultrasound revealed a large cystic mass in his left kidney area with echo debris and a hip X-ray showed bilateral developmental dysplasia of the hip. Intraoperative findings were cystic left kidney, both testes were intraperitoneal, tortuous left renal vein, enlarged bladder reaching above umbilicus, and left megaureter. bilateral orchidectomy and left nephrectomy were done. He was given intravenously administered antibiotics for treatment of pyelonephritis and discharged home with an appointment for follow up and possible abdominoplasty. In the current report delayed presentation contributed to testicular atrophy and decision for orchidectomy. Furthermore, he will be at potential risk for sex hormone abnormality. Therefore, diagnosis of prune

  13. Intermittent Brugada Syndrome Presenting with Syncope in an Adult Female

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    Patricia Chavez

    2014-01-01

    Full Text Available Background. Brugada syndrome accounts for 4–12% of all sudden deaths worldwide and at least 20% of sudden deaths in patients with structurally normal hearts. Case Report. A 48-year-old female presented to the emergency department after two witnessed syncopal episodes. While awaiting discharge had a third collapse followed by cardiac arrest with shockable rhythm. Initial electrocardiogram showed wide QRS complex with left axis deviation, ST-segment elevation of 2 mm followed by a negative T wave with no isoelectric separation, suggestive of spontaneous intermittent Brugada type 1 pattern. Cardiac magnetic resonance imaging demonstrated neither structural heart disease nor abnormal myocardium. After placement of an implantable cardioverter defibrillator the patient was discharged. Why should an emergency physician be aware of this? Brugada syndrome is an infrequently encountered clinical entity which may have a fatal outcome. This syndrome primarily presents with syncope. It should be considered as a component of differential diagnosis in patients with family history of syncope and sudden cardiac death.

  14. Kartagener's syndrome presented with nasal obstruction: A case report

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    Suna Asilsoy

    2014-08-01

    Full Text Available The nasal polyposis is a chronic inflammatory process of the nasal mucosa. Although it is rare in children, there may be also association with cystic fibrosis and primary ciliary dyskinesia. About 50% of primary ciliary dyskinesia patients develop situs inversus and it is known as Kartagener's syndrome. The Kartagener's sydrome is a rare autosomal recessive disorder characterized by sinusitis, bronchiectasis, situs inversus. Clinically, patients present to the otolaryngologist with nasal obstruction. We as pediatricians, should consider nasal polyposis as a rare cause of nasal obstruction in children. In the presence of recurrent upper and lower respiratory tract infections accompanying nasal polyposis, Kartagener's syndrome must be kept in mind as a rare reason. [Cukurova Med J 2014; 39(4.000: 942-945

  15. Case of clinical Reye syndrome presenting characteristic CT changes

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    Hino, Tamaki; Sai, Hoshun; Morikawa, Yuji; Mizuta, Ryuzo (Kyoto Second Red Cross Hospital (Japan)); Okuno, Takehiko

    1984-05-01

    A 9-month-old male infant was admitted to our hospital on the second day of cold like syndrome because of high fever, convulsion, coma, and decerebrate rigidity. Serum GOT, GPT, LDH, and CPK were markedly elevated. Serum ammonia was slightly increased, and hypoglycemia was present. The cerebrospinal fluid showed no pleocytosis, normal sugar content, but increased protein. Thus we made a diagnosis of clinical Reye syndrome according to the criteria by Yamashita, et al. A CT on the day of admission showed symmetrical low-density areas in the posterior fossa and the regions of thalamus. Ringed enhancements were seen around the areas of low density in the thalamus on the twenty-second hospital day. We consider that these lesions may represent the infarction due to obstruction of the thalamoperforant arteries caused by cerebral edema in the early stage of the disease.

  16. Hyperviscosity Syndrome as Presentation of Multiple Myeloma. A Case Report

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    Miguel Ángel Serra Valdés

    2013-03-01

    Full Text Available Emergencies that may arise during the evolution of hematologic diseases are diverse, owing to both, the course of the underlying disease and the time they are presented. They may be the first manifestation of the disease or occur in the course of its evolution. We present a clinical case where hyperviscosity syndrome with neurological manifestations becomes the onset for the diagnosis of multiple myeloma, a rare occurrence. The response was favorable after quickly providing the established medical treatment for these cases.

  17. Pulmonary embolism as the primary presenting feature of nephrotic syndrome

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    Pallavi Periwal

    2016-01-01

    Full Text Available A 36-year-old previously healthy male presented with subacute onset of shortness of breath and chest pain. He was diagnosed with bilateral extensive pulmonary embolism (PE. In the absence of any predisposing factors, an extensive workup for unprovoked thrombophilia was done. During the course of his illness, the patient developed anasarca and was diagnosed to be suffering from nephrotic syndrome (NS, secondary to membranous glomerulopathy. Although, thrombotic complications are commonly associated with NS, it is unusual for PE to be the primary presenting feature in these patients.

  18. Laryngeal carcinoma presenting as polymyositis: A paraneoplastic syndrome

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    Ritesh Sahu

    2016-01-01

    Full Text Available Laryngeal carcinoma is rarely associated with paraneoplastic syndrome. Inflammatory myopathy presenting as paraneoplastic event is commonly associated with carcinomas of ovary, lung, pancreas, stomach, colorectal, and non-Hodgkin′s lymphoma. We report a case of elderly male, who presented with proximal muscle weakness and found to be associated with laryngeal carcinoma. Diagnosis of polymyositis (PM was confirmed based on clinical features, laboratory test, and muscle biopsy. Exclusion of other commonly associated malignancies was done. This patient improved gradually after 6 months of immunosuppressive therapy and management of underlying cancer.

  19. Post-irradiation lumbosacral radiculopathy associated with multiple cavernous malformations of the cauda equina: Case report and review of the literature

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    Drazin, Doniel; Kappel, Ari; Withrow, Stefan; Perry, Tiffany; Chu, Ray; Phuphanich, Surasak

    2017-01-01

    Background: Multiple radiation-induced cavernous malformations of the cauda equina are extremely rare. A review of the literature suggested that the post-irradiation lumbosacral radiculopathy in our patient was most likely associated with a diagnosis of multiple radiation-induced cavernous malformations of the cauda equina. Case Description: A 76-year-old man with a remote history of abdominal radiation therapy presented with a 6-month history of progressively worsening right foot drop and balance impairment. Magnetic resonance imaging (MRI) revealed multiple enhancing areas of the cauda equina concerning for carcinomatous meningitis, however, cerebrospinal fluid (CSF) analysis was unrevealing. Intraoperative findings were consistent with multiple radiation-induced cavernous malformations of the cauda equina. Conclusions: Multiple radiation-induced cavernous malformations of the cauda equina may mimic carcinomatous or infectious meningitis. Clinicians should be suspicious of this diagnosis when CSF and MRI findings are inconsistent with metastatic disease or infectious meningitis in patients who present with radiculopathy and a history of radiation therapy. PMID:28303206

  20. A Guyon's canal ganglion presenting as occupational overuse syndrome: A case report.

    LENUS (Irish Health Repository)

    Chan, Jeffrey C Y

    2008-01-01

    Occupational overuse syndrome (OOS) can present as Guyon\\'s canal syndrome in computer keyboard users. We report a case of Guyon\\'s canal syndrome caused by a ganglion in a computer user that was misdiagnosed as OOS.

  1. Ovarian Hyperstimulation Syndrome Presenting with Polyserositis: A Case Report

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    Nilay Şengül Samancı

    2014-03-01

    Full Text Available Ovarian hyperstimulation syndrome (OHSS is an iatrogenic complication of ovulation induction with exogenous gonadotropins. Pleural effusion and abdominal ascites frequently accompany this syndrome. In this paper, we present the case of a 22-year-old female patient who was admitted to our clinic with the complaints of sudden chest pain and dyspnea and was treated with ovulation induction. Exudative pleural effusion and ascites were determined in the patient. Pelvic ultrasonography revealed enlarged ovaries with numerous follicular cysts compatible with ovarian hyperstimulation syndrome (OHSS. Her estradiol level was >5054 pg/ml. The diagnosis of OHSS was established after elimination of other causative factors of polyserositis (pleural effusion and ascites. The disappearance of pleural effusion and ascites spontaneously in a week supported our diagnosis. Herein, we aimed to emphasize that OHSS should be considered in the differential diagnosis of polyserositis in young female patients with a history of ovulation induction history. (The Me­di­cal Bul­le­tin of Ha­se­ki 2014; 52: 56-9

  2. Bone cement implantation syndrome: a delayed postoperative presentation.

    Science.gov (United States)

    Singh, Vikash; Bhakta, Pradipta; Zietak, Edyta; Hussain, Ashfaq

    2016-06-01

    Bone cement implantation syndrome (BCIS) is a well-known entity but is poorly understood and rarely reported. It is an important cause of perioperative morbidity and mortality in the patient undergoing cemented hip arthroplasty. BCIS is characterized by hypotension, hypoxia, cardiac arrhythmias, and increased pulmonary vascular resistance and can lead to eventual cardiac arrest if not managed properly. We hereby report a case of delayed presentation of BCIS following cemented right hip arthroplasty. Crown Copyright © 2016. Published by Elsevier Inc. All rights reserved.

  3. Systemic lupus erythematosus presenting as congenital nephrotic syndrome.

    Science.gov (United States)

    Dudley, J; Fenton, T; Unsworth, J; Chambers, T; MacIver, A; Tizard, J

    1996-12-01

    A male Caucasian infant developed nephrotic syndrome at 10 weeks of age. He had high titres of antinuclear antibody (ANA) and anti-double-stranded DNA antibody, with hypocomplementaemia, antiplatelet antibodies and anticardiolipin antibodies. There were no detectable antibodies to extractable nuclear antigens (ENA). His mother was consistently seronegative for anti-ENA (anti-Ro) antibodies and ANA. He developed severe, progressive multisystem involvement, however renal function has remained stable. Immunosuppression has been the mainstay of therapy in this rare presentation of systemic lupus erythematosus.

  4. Treacher Collins Syndrome: A Review and Case Presentation

    OpenAIRE

    Leyva, Juan Carlos; Pontificia Universidad Javeriana; Mallarino Restrepo, Gonzalo; Pontificia Universidad Javeriana

    2013-01-01

    The Treacher Collins syndrome (TCS) is a dominant, autosomal craneofacial disorder. Its incidence is 1 in 25,000 to 50,000 live births. It’s caused secondary to mutations in the gen that codifies the treacle protein. Mala hipoplasia and anti mongoloid folds characterize it. The diagnosis is made by clinical examination and its treatment requires a multidisciplinary approach. This article makes a brief review of the STC and presents the case of a patient diagnosed and treated in the Hospital U...

  5. Delayed Presentation of Gluteal Compartment Syndrome: The Argument for Fasciotomy

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    John E. Lawrence

    2016-01-01

    Full Text Available A male patient in his fifties presented to his local hospital with numbness and weakness of the right leg which left him unable to mobilise. He reported injecting heroin the previous morning. Following an initial diagnosis of acute limb ischaemia the patient was transferred to a tertiary centre where Computed Tomography Angiography was reported as normal. Detailed neurological examination revealed weakness in hip flexion and extension (1/5 on the Medical Research Council scale with complete paralysis of muscle groups distal to this. Sensation to pinprick and light touch was globally reduced. Blood tests revealed acute kidney injury with raised creatinine kinase and the patient was treated for rhabdomyolysis. Orthopaedic referral was made the following day and a diagnosis of gluteal compartment syndrome (GCS was made. Emergency fasciotomy was performed 56 hours after the onset of symptoms. There was immediate neurological improvement following decompression and the patient was rehabilitated with complete nerve recovery and function at eight-week follow-up. This is the first documented case of full functional recovery following a delayed presentation of GCS with sciatic nerve palsy. We discuss the arguments for and against fasciotomy in cases of compartment syndrome with significant delay in presentation or diagnosis.

  6. MR appearance of paraganglioma of the cauda equina. Case reports

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    Taira, H.; Takasita, M.; Yoshida, S.; Takita, C.; Tsumura, H.; Torisu, T. [Oita Medical University, Oita-gun (Japan). Dept. of Orthopedic Surgery

    2000-07-01

    In order to investigate the value of MR imaging for preoperative diagnosis of paraganglioma of the cauda equina, a retrospective review of 2 cases of paraganglioma of the cauda equina examined with MR imaging was undertaken. Features assessed included the homogeneity of the lesions, presence or absence of serpiginous flow void and thin hypointense margins. In case 1, the tumor was hyperintense on the postcontrast examination and serpiginous flow void suggested vessels in the upper pole of the tumor. In case 2, the tumor was encapsulated by a thin hypointense margin on both T1- and T2-weighted images, which suggested hemosiderin. The MR appearance may be of great value in the preoperative diagnosis of paraganglioma of the cauda equina.

  7. Autoimmune Progesterone Dermatitis Presenting as Stevens-Johnson Syndrome.

    Science.gov (United States)

    Drayer, Sara M; Laufer, Larry R; Farrell, Maureen E

    2017-10-01

    Autoimmune progesterone dermatitis is an uncommon disease presenting with cyclical skin eruptions corresponding with the menstrual cycle luteal phase. Because symptoms are precipitated by rising progesterone levels, treatment relies on hormone suppression. A 22-year-old nulligravid woman presented with symptoms mistaken for Stevens-Johnson syndrome. A cyclic recurrence of her symptoms was noted, and the diagnosis of autoimmune progesterone dermatitis was made by an intradermal progesterone challenge. After 48 months, she remained refractory to medical management and definitive surgical treatment with bilateral oophorectomy was performed. Autoimmune progesterone dermatitis is a challenging diagnosis owing to its rarity and variety of clinical presentations. Treatment centers on suppression of endogenous progesterone and avoidance of exogenous triggers. When these modalities fail, surgical management must be undertaken.

  8. Herlyn-Werner-Wunderlich syndrome: a rare presentation with pyocolpos.

    Science.gov (United States)

    Cox, Deven; Ching, Brian H

    2012-03-01

    Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA), also known as Herlyn-Werner-Wunderlich syndrome, is a rare syndrome with only a few hundred reported cases described since 1922. Only a handful of these cases have been associated with pyocolpos. Mullerian duct anomalies have an incidence of 2-3%. While OHVIRA constitutes 0.16-10% of these Mullerian duct anomalies. Symptoms usually present shortly after menarche when hematocolpos develops during menstruation resulting in dysmenorrhea and a pelvic mass. The pelvic mass is the collection of blood products within the obstructed hemivagina. The first study in the diagnostic work-up is usually ultrasonography, which typically demonstrates a pelvic fluid collection which can simulate other disease processes thus confounding the diagnosis. MRI findings of the pelvis reveal a didelphic uterus. Imaging of the abdomen reveals agenesis of the ipsilateral kidney. MRI is beneficial in characterizing the didelphic uterus and vaginal septum for pre-operative planning. Understanding the imaging findings, in conjunction with the clinical presentation, is critical for early diagnosis in attempting to prevent complications such as endometriosis or adhesions from chronic infections with subsequent infertility.

  9. Catastrophic Antiphospholipid Syndrome Presenting as Bilateral Central Retinal Artery Occlusions

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    Steven S. Saraf

    2015-01-01

    Full Text Available A previously healthy 22-year-old African American woman presented with bilateral vision loss associated with headache. Her ocular examination was significant for bilateral retinal arterial “boxcarring,” retinal whitening, retinal hemorrhages, and cherry red spots. She was diagnosed with bilateral central retinal artery occlusions and was hospitalized due to concomitant diagnosis of stroke and hypercoagulable state. She was also found to be in heart failure and kidney failure. Rheumatology was consulted and she was diagnosed with catastrophic antiphospholipid syndrome in association with systemic lupus erythematosus. Approximately 7 months after presentation, the patient’s vision improved and remained stable at 20/200 and 20/80.

  10. Type I lepra reaction presenting as immune reconstitution inflammatory syndrome.

    Science.gov (United States)

    Kharkar, Vidya; Bhor, Urmila H; Mahajan, Sunanda; Khopkar, Uday

    2007-01-01

    Immune reconstitution inflammatory syndrome (IRIS) is an unusual inflammatory reaction due to infectious and non-infectious causes occurring in human Immunodeficiency virus (HIV)-infected patients. IRIS occurs after the initiation of antiretroviral therapy. There are no reports of type I lepra reaction due to IRIS in published literature from India. We report two cases of HIV-infected males who presented with borderline tuberculoid leprosy in type 1 reaction after the initiation of highly active antiretroviral treatment (HAART). Case 1 presented with multiple, tender, erythematous and hypoesthetic plaques on the trunk and extremities after 3 months of antiretroviral therapy. In case 2, type I lepra reaction was observed 2 months after the initiation of HAART.

  11. Cauda equina compression in an achondroplastic dwarf. Is complex anterior and posterior surgical intervention necessary?

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    Papadakis Michael

    2008-12-01

    Full Text Available Abstract We report the case of an achondroplastic dwarf who presented with partial paraplegia due to cauda equina compression. The patient had marked thoracolumbar kyphosis and spinal stenosis at L2–L3. Although only posterior decompression is recommended in the literature for the treatment of achondroplastic patients presenting with neurological problems, a staged anterior and posterior decompression and stabilization was considered necessary for the treatment of this particular patient due to the presence of kyphosis. Satisfactory clinical results were achieved and sustained for six years following this complex operation.

  12. COEXISTENCE YELLOW NAIL SYNDROME WITH SYSTEMIC SYMPTOMS - PRESENTATION OF CASES

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    Brzeziński Piotr

    2010-10-01

    Full Text Available Nail changes can accompany many systemic diseases and very often indicate the ongoing systemic process of illness. The yellow nail syndrome (YNS is very rare clinical entity characterized by marked thickening and yellow to yellow-green discoloration of the nails. Congenitally hypoplastic lymphostasis plays a major role in the clinical manifestation of that disease. Syndrome includes pleural effusions, lymphedema and yellow dystrophic nails. The pathogenesis stays still unknown.Aim: Presentation the coexistence of YNS with the systemic symptoms by analyzing cases of 3 patients.Material and methods: The analysis involved 3 patients with YNS (2 women and 1 man aged from 43 to 48 years.Results: We confirmed 3 cases of YNS, with the characteristic nails changes (yellow-greenish discoloration, absence of lunula, etc.. None of the patients had a family history of YNS. All suffered from chronic diseases: the first patient suffered from lymphedema and diabetes mellitus, second - from rheumatoid arthritis and the third complained of a chronic caught and sinusitis. All YNS`s symptoms occurred in the patients` forties. We observed fingers and toes involvement on 7-8 nails in each patient.Conclusions: The YNS offen associated with systemic disease, most commonly lymphedema and bronchiectasis. However, the literature describes some connections with carcinoma and autoimmune diseases. Therefore, each patient with YNS should be examined for cancer detection and stay under periodic medical control.

  13. Primary Sjogren's syndrome presenting as hypokalemic paralysis: A case series

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    M Goroshi

    2017-01-01

    Full Text Available Primary Sjögren's syndrome (pSS primarily involves exocrine glands, and renal tubular acidosis (RTA is seen in one-third of the cases. RTA with hypokalemic paralysis as a presenting feature of pSS is described in few case reports in literature. We report 13 cases who presented as hypokalemic paralysis, and on evaluation were diagnosed to be pSS, as per the diagnostic criteria laid by the Sjögren's International Collaborative Clinical Alliance (2012. All patients were female, with a mean age at presentation being 33.1 ± 8.22 years (range, 25–48 years. Eleven patients had a complete distal RTA and two patients had incomplete distal RTA at the time of presentation. 62% (8/13 of patients had no signs and symptoms of exocrine gland involvement. All the cases were managed with oral alkali therapy, and six patients received additional immunomodulating agents. No improvement in renal tubular dysfunction (in the form of a reduction in the alkali dose after immunomodulating therapy was observed over a mean follow-up of 2.8 years. Renal tubular dysfunction can be the presenting manifestation of pSS. It is important to consider the possible presence of this disorder in adults with otherwise unexplained distal RTA or hypokalemia.

  14. Sarcoidosis Presenting as Löfgren's Syndrome with Myopathy.

    Science.gov (United States)

    Kobak, Senol; Yalçin, Murat; Sever, Fidan; Oncel, Guray

    2013-01-01

    A 34-year-old female patient, who had proximal muscle weakness for 8 months, presented with erythema nodosum lesions on the pretibial region in addition to pain, swelling, and movement restriction in both ankles for the last one month. Thoracic CT demonstrated hilar and mediastinal lymphadenopathy. She underwent mediastinoscopic lymph node biopsy; biopsy result was consistent with noncaseating granuloma. Serum angiotensin converting enzyme level and muscle enzymes have been elevated. Muscular MRI and EMG findings were consistent with myositis. Muscle biopsy was done, and myopathy was found. The patient was diagnosed with sarcoidosis, Löfgren's syndrome, and sarcoid myopathy. The patient displayed remarkable clinical and radiological regression after 6-month corticosteroid and MTX therapy.

  15. Sarcoidosis Presenting as Löfgren’s Syndrome with Myopathy

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    Şenol Kobak

    2013-01-01

    Full Text Available A 34-year-old female patient, who had proximal muscle weakness for 8 months, presented with erythema nodosum lesions on the pretibial region in addition to pain, swelling, and movement restriction in both ankles for the last one month. Thoracic CT demonstrated hilar and mediastinal lymphadenopathy. She underwent mediastinoscopic lymph node biopsy; biopsy result was consistent with noncaseating granuloma. Serum angiotensin converting enzyme level and muscle enzymes have been elevated. Muscular MRI and EMG findings were consistent with myositis. Muscle biopsy was done, and myopathy was found. The patient was diagnosed with sarcoidosis, Löfgren's syndrome, and sarcoid myopathy. The patient displayed remarkable clinical and radiological regression after 6-month corticosteroid and MTX therapy.

  16. Clinical presentation and management of neonatal abstinence syndrome: an update

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    Ordean A

    2014-04-01

    Full Text Available Alice Ordean,1 Brian C Chisamore21Department of Family Medicine, 2Department of Pediatrics, St Joseph's Health Centre, and University of Toronto, Toronto, ON, CanadaAbstract: Exposure to prescription medications and illicit drug use during pregnancy has been associated with neonatal abstinence syndrome. The clinical presentation consists of neurological respiratory, gastrointestinal, and vasomotor disturbances. All infants require observation and supportive care to ensure appropriate adaptation and growth in the newborn period. A smaller percentage may also require additional pharmacotherapy, depending on the specific gestational substance exposure. Women should be counseled antenatally about the possible neonatal effects, and mother–baby dyad care should be implemented for this particular patient population.Keywords: neonatal withdrawal, opioids, marijuana, cocaine, benzodiazepines, selective serotonin reuptake inhibitors

  17. Pediatric Tourette Syndrome: A Tic Disorder with a Tricky Presentation

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    Qurratul Warsi

    2017-03-01

    Full Text Available Dysphagia is a condition in which disruption of the swallowing process interferes with a patient’s ability to eat. This may result in coughing or choking while swallowing, food sticking in the throat, or globus sensation. Eosinophilic esophagitis (EoE is a chronic immune-mediated disease with a varied clinical spectrum of symptoms including dysphagia. Tourette syndrome (TS is an inherited neurological disorder that manifests itself as a series of motor and vocal tics and may include oropharyngeal dysphagia. Dysphagia as a result of TS generally affects female, elderly patients and is not reported in children. While the pathophysiology is relatively unknown, experts believe TS is closely linked to damage or abnormalities in the basal ganglia of the brain. We present this interesting pediatric case of dysphagia due to EoE, which had been previously thought to be related to the patient’s TS.

  18. Antiphospholipid syndrome presenting as progressive neuropsychiatric disorders: two case reports

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    Li CH

    2013-05-01

    Full Text Available Chien-Hsun Li,1–3 Mei-Chuan Chou,2,4 Ching-Kuan Liu,2,3 Chiou-Lian Lai2,31Department of Neurology, Fooyin University Hospital, Pingtung, Taiwan; 2Department of Neurology, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan; 3Department of and Master’s Program in Neurology, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; 4Department of Neurology, Kaohsiung Municipal Ta-Tung Hospital, Kaohsiung, TaiwanAbstract: The antiphospholipid syndrome (APS is a rare form of autoimmune coagulopathy. In this syndrome, the most common neurologic abnormality is transient ischemic attack. This can be easily overlooked if a patient presents with progressive neuropsychiatric disorders, such as depression or dementia. We report two cases of young women, aged 35 and 22 years, presenting with progressive depression and mental decline over a certain period. The neuropsychological diagnoses of the two patients were, respectively, dementia with disinhibition and borderline dementia with depression. Brain magnetic resonance imaging showed multiple old infarcts with encephalomalacia in the former case, and only one cortical hemorrhagic infarction, over the right temporoparietal lobe, observed in the latter case. The outcomes of the two cases were also very different. Progressive neuropsychiatric disorders are increasingly observed in the young; therefore, APS and other autoimmune diseases should be considered during the differential diagnosis. Brain imaging examinations may prevent a delay in the detection of a structural lesion and facilitate the early intervention with good prognosis. Careful investigations by experts from different disciplines are always encouraged in complicated cases.Keywords: autoimmune disease, brain imaging, dementia, depression, cerebrovascular disease

  19. Clinical Presentation of Klinefelter's Syndrome: Differences According to Age

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    Néstor Pacenza

    2012-01-01

    Full Text Available The aim of the study was to establish the characteristics of presentation of 94 patients with Kinelfelter's syndrome (KS referred to the endocrinologist at different ages. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%. Most of the patients (83.7% showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. Half of the patients younger than 18 years presented mild neurodevelopmental disorders. The most frequent clinical findings were cryptorchidism in prepubertal patients, and small testes, cryptorchidism, and gynecomastia in pubertal patients. FSH, LH, AMH, and inhibin B levels were normal in prepubertal patients and became abnormal from midpuberty. Most adults were referred for small testes, infertility, and gynecomastia; 43.6% had sexual dysfunction. Testosterone levels were low in 45%. Mean stature was above the 50th percentile, and 62.5% had BMI ≥25.0 kg/m2. In conclusion, the diagnosis of Klinefelter syndrome seems to be made earlier nowadays probably because pediatricians are more aware that boys and adolescents with neuro-developmental disorders and cryptorchidism are at increased risk. The increasing use of prenatal diagnosis has also decreased the mean age at diagnosis and allowed to get insight into the evolution of previously undiagnosed cases, which probably represent the mildest forms. In adults average height and weight are slightly higher than those in the normal population. Bone mineral density is mildly affected, more at the spine than at the femoral neck level, in less than half of cases.

  20. Clinical Presentation of Klinefelter's Syndrome: Differences According to Age

    Science.gov (United States)

    Pacenza, Néstor; Pasqualini, Titania; Gottlieb, Silvia; Knoblovits, Pablo; Costanzo, Pablo R.; Stewart Usher, Jorge; Rey, Rodolfo A.; Martínez, María P.; Aszpis, Sergio

    2012-01-01

    The aim of the study was to establish the characteristics of presentation of 94 patients with Kinelfelter's syndrome (KS) referred to the endocrinologist at different ages. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%). Most of the patients (83.7%) showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. Half of the patients younger than 18 years presented mild neurodevelopmental disorders. The most frequent clinical findings were cryptorchidism in prepubertal patients, and small testes, cryptorchidism, and gynecomastia in pubertal patients. FSH, LH, AMH, and inhibin B levels were normal in prepubertal patients and became abnormal from midpuberty. Most adults were referred for small testes, infertility, and gynecomastia; 43.6% had sexual dysfunction. Testosterone levels were low in 45%. Mean stature was above the 50th percentile, and 62.5% had BMI ≥25.0 kg/m2. In conclusion, the diagnosis of Klinefelter syndrome seems to be made earlier nowadays probably because pediatricians are more aware that boys and adolescents with neuro-developmental disorders and cryptorchidism are at increased risk. The increasing use of prenatal diagnosis has also decreased the mean age at diagnosis and allowed to get insight into the evolution of previously undiagnosed cases, which probably represent the mildest forms. In adults average height and weight are slightly higher than those in the normal population. Bone mineral density is mildly affected, more at the spine than at the femoral neck level, in less than half of cases. PMID:22291701

  1. Unusual presentation of prune belly syndrome: a case report

    OpenAIRE

    Demisse, Abayneh Girma; Berhanu, Ashenafi; Tadesse, Temesgen

    2017-01-01

    Background Prune belly syndrome is a rare congenital malformation of unknown etiology, with the following triad of findings: abdominal muscle wall weakness, undescended testes, and urinary tract abnormalities. In most cases, detection of prune belly syndrome occurs during neonatal or infancy period. In this case report, we describe a 12-year-old boy from Ethiopia with the triad of findings of prune belly syndrome along with skeletal malformations. We are unaware of any previous report of prun...

  2. Thermal stress and the biology of Actinia equina L. (Anthozoa)

    Energy Technology Data Exchange (ETDEWEB)

    Griffiths, R.J.

    1977-05-01

    Actinia equina L. is a cosmopolitan species subject to environmental conditions ranging from near Arctic to tropical. In South Africa it is found in the upper balanoid zone and tolerates extreme conditions of temperature and desiccation. Temperature measurements showed up to 11/sup 0/C rise in body temperature above ambient during exposure. Evaporation of coelenteron water from the body surface resulted in lower temperatures in the oral region. Exposure first caused increased muscular activity and high levels of oxygen consumption, well above those recorded for submerged animals at similar temperatures. This was followed by gradual reduction in activity and decline in oxygen consumption to constant level which was maintained for the rest of the period of exposure. A. equina when exposed to air showed greater tolerance of high temperatures than when submerged. Rate-temperature curves for A. equina collected during summer and winter showed metabolic constancy over the environmental temperature range with a lateral shift of the plateau to the right during the summer months. Comparison with similar curves for British animals showed evidence of acclimation to the different geographical zones in which A. equina is found. The sublittoral actinian Anemonia natalensis Calgr. showed no acclimation to temperature change.

  3. Advanced Prostate Cancer Presenting as Hemolytic Uremic Syndrome

    Directory of Open Access Journals (Sweden)

    R. Ramos

    2013-01-01

    Full Text Available Introduction. Hemolytic uremic syndrome (HUS is characterized by endothelial dysfunction, consumption thrombocytopenia, microangiopathic hemolytic anemia, and acute renal failure. HUS generally has a dismal prognosis, except when associated with gastroenteritis caused by verotoxin-producing bacteria. Cancer associated HUS is uncommon, and there are only scarce reports on prostate cancer presenting with HUS. Case Presentation. A 72-year-old man presented to the emergency department with oliguria, hematuria, and hematemesis. Clinical evaluation revealed acute renal failure, hemolysis, normal blood-clotting studies, and prostate-specific antigen value of 1000 ng/mL. The patient was started on hemodialysis, ultrafiltration with plasma exchange, and androgen blockade with bicalutamide and completely recovered from HUS. The authors review the 14 published cases on this association. Conclusion. The association of HUS and prostate cancer occurs more frequently in patients with high-grade, clinically advanced prostate cancer. When readily recognized and appropriately treated, HUS does not seem to worsen prognosis in prostate cancer patients.

  4. Primary Sjögren's syndrome preceding the presentation of systemic lupus erythematosus as a benign intracranial hypertension syndrome.

    OpenAIRE

    Chevalier, X; De Bandt, M; Bourgeois, P.; Kahn, M F

    1992-01-01

    The case is reported of a 41 year old white woman who developed systemic lupus erythematosus (SLE) seven years after primary Sjögren's syndrome and four years after the association of Sjögren's syndrome with Jaccoud's arthritis. The SLE was detected by a benign intracranial hypertension, which is a rare neuro-ophthalmic presentation of lupus. No associated conditions linked to benign intracranial hypertension syndrome were seen in this patient and the hypertension syndrome recurred one year l...

  5. Breast Cancer Presents with a Paraneoplastic Neurologic Syndrome

    Directory of Open Access Journals (Sweden)

    Pedro Coelho Barata

    2012-11-01

    Full Text Available Background: Paraneoplastic neurologic syndromes (PNS pose quite an uncommon neurological complication, affecting less than 1% of patients with breast cancer. Nearly one third of these patients lack detectable onconeural antibodies (ONAs, and improvement in neurologic deficits with concomitant cancer treatments is achieved in less than 30% of cases. Case Presentation: A 42-year-old, premenopausal woman presented with facial paralysis on the central left side accompanied by a left tongue deviation, an upward vertical nystagmus, moderate spastic paraparesis, dystonic posturing of the left foot, lower limb hyperreflexia and bilateral extensor plantar reflex. After ruling out all other potential neurologic causes, PNS was suspected but no ONAs were found. A PET-CT scan detected increased metabolism in the right breast, as well as an ipsilateral thoracic interpectoral adenopathy. Core biopsy confirmed the presence of an infiltrating duct carcinoma. After breast surgery, the neurologic symptoms disappeared. One week later, the patient was readmitted to the hospital with a bilateral fatigable eyelid ptosis, and two weeks later, there was a noticeable improvement in eyelid ptosis, accompanied by a rapid and progressive development of lower spastic paraparesis. She started adjuvant treatment with chemotherapy with marked clinical and neurological improvement, and by the end of radiotherapy, there were no signs of neurologic impairment. Conclusion: This case study highlights the importance of a high level of vigilance for the detection of PNS, even when ONAs are not detected, as the rapid identification and treatment of the underlying tumor offers the best chance for a full recovery.

  6. A case of Moebius syndrome presenting with congenital bilateral vocal cord paralysis.

    Science.gov (United States)

    Kanemoto, Nobuko; Kanemoto, Katsuyoshi; Kamoda, Tomohiro; Hasegawa, Makoto; Arinami, Tadao

    2007-08-01

    We describe a female infant with bilateral facial paralysis and abducens palsy. To the best of our knowledge, this is the first report of Moebius syndrome presenting with congenital bilateral vocal cord paralysis (CBVCP). Although CBVCP can be part of a recognizable syndrome, i.e. Down syndrome, 22q deletion syndrome, Robinow's syndrome and cerebro-oculo-facio-skeletal syndrome, no reports of Moebius syndrome with CBVCP were found in the literature. CBVCP is often associated with central nervous system abnormalities. However, our patient had no detectable brain abnormalities. The etiology of Moebius syndrome remains unknown. It is interesting that the clinical manifestations of Moebius syndrome can include CBVCP. However, the pathophysiology of CBVCP is unknown and further investigations into the etiology of Moebius syndrome are required.

  7. Rare presentation of bilobed posterior tongue in Goldenhar syndrome.

    Science.gov (United States)

    Rajendran, Thilaga; Ramalinggam, Ganesh; Kamaru Ambu, Valuyeetham

    2017-08-01

    A bilobed posterior tongue is a rare malformation with few reported cases in the literature. This anomaly has not been demonstrated in patients with Goldenhar syndrome. We report a case of a 5-month-old child with the classic signs of Goldenhar syndrome and laryngomalacia with an incidental finding of a bilobed posterior tongue. Careful assessment and monitoring are crucial, especially in syndromic babies. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  8. Mowat-Wilson syndrome presenting with fever-associated seizures.

    Science.gov (United States)

    Seo, Se Eun; Kim, Se Hee; Lee, Seung Tae; Choi, Jong Rak; Lee, Joon Soo; Kim, Heung Dong; Kang, Hoon-Chul

    2017-12-20

    Mowat-Wilson syndrome (MWS) is a disorder caused by mutations or deletions of the zinc finger E-box-binding homeobox 2 (ZEB2) gene. Diagnosis of MWS can be challenging to neurologists, because its manifestations are diverse and the spectrum of genetic mutations are broad. Here, we describe two patients with MWS who initially showed atypical forms of fever-triggered seizures during childhood. Both had characteristic facial features, cognitive impairment, and genito-urinary anomalies consistent with MWS. By performing targeted next-generation sequencing (NGS) using a gene panel for epilepsy, we were able to identify a nonsense mutation (c.1965C>A) in the ZEB2 gene of one patient and a frameshift mutation (c.2348dupC) in the other patient. Fever-induced seizures can be presenting signs of MWS. MWS should be considered in the differential diagnosis of fever-induced seizures, especially when the patient has distinctive facial features and multiple anomalies, including cardiac, genito-urinary, and eye defects.

  9. Sjogrens Syndrome Presenting with Central Nervous System Involvement

    Directory of Open Access Journals (Sweden)

    Tülay Terzi

    2012-01-01

    Full Text Available Sjogren’s syndrome is a slowly progressive autoimmune disease. Neurological involvement occurs in approximately 20-25% cases in Sjogren’s syndrome. 87% of the neurological involvement is peripheral nervous system, almost 13% in the form of central nervous system involvement. Affected central nervous system may show similar clinical and radiological findings as in multiple sclerosis (MS. In this paper, a 43-year-old patient is discussed who was referred with the complaint of dizziness, there was MS- like lesions in brain imaging studies and was diagnosed with Sjogren’s syndrome. MS- like clinical and radiologic tables can be seen, albeit rarely in Sjogren’s syndrome. In these cases, early diagnosis and early treatment for the sjögren has a great importance for the prognosis of the disease.

  10. Battered woman syndrome: An unusual presentation of pseudodystonia

    National Research Council Canada - National Science Library

    Sadanandavalli Retnaswami Chandra; Thomas Gregor Issac

    2014-01-01

    ... to distinguish from true dystonia syndromes. We report a rare case of a battered woman who was managed as restricted resistant dystonia with pharmacotherapy and intrathecal baclofen and referred for considering deep brain stimulation (DBS...

  11. ASOCIACIÓN SEROLÓGICA DE LA RINONEUMONITIS VIRAL EQUINA Y LA ANEMIA INFECCIOSA EQUINA

    Directory of Open Access Journals (Sweden)

    Albeiro López-Herrera

    2008-04-01

    Full Text Available Objetivo. Determinar el nivel de asociación serológica entre los herpesvirus equinos tipos 1 y 4 (HVE-1 y HVE-4 causantes de la rinoneumonitis equina y el virus de la anemia infecciosa equina (VAIE en caballos de trabajo provenientes de 5 municipios del Meta. Materiales y métodos. Se realizó una encuesta serológica transversal en 68 equinos provenientes de los municipios de San Martín, Guamal, Restrepo, Cumaral y Paratebueno. Para la evaluación de los anticuerpos contra los HVE-1 y HVE-4, se utilizó un ELISA indirecto para detectar la presencia de anticuerpos dirigidos contra la glicoproteína G del HVE-1 y HVE-4 (Svanovir ™ EHV1/EHV4-Ab ELISA; para el diagnóstico de anticuerpos contra el VAIE se utilizó la prueba de inmunodifusión en agar de gel de Coggins. Resultados. No se encontraron reactores al HVE-1; sin embargo, el porcentaje de seropositividad fue de 94.12% (64/68 y 13.2%(9/68 para HVE-4 y VAIE respectivamente. El porcentaje de animales coinfectados HVE-4 y AIE fue 13.23% (9/68. Cuando se discriminaron los resultados por Municipio se encontró un 27.9% (19/68 de reactividad en el municipio de Restrepo, 26.5% (18/68 en Cumaral, 14.7% (10/68 en Paratebueno, 14.7% (10/68 en Guamal, y 10.3% (7/68 en San Martin. El porcentaje de reactores por municipio al VAIE fue Cumaral 5.88% (4/68, Restrepo 4.4% (3/68, Guamal 1.47%(1/68 y San Martín 1.47% (1/68. Conclusión. El alto porcentaje de coinfección entre HVE-4 y VAIE sugiere un efecto importante en la interacción, pues el efecto inmunosupresor del VAIE podría facilitar la reactivación del estado latente del HVE-4.

  12. A Case of Newly Diagnosed Klippel Trenaunay Weber Syndrome Presenting with Nephrotic Syndrome

    Directory of Open Access Journals (Sweden)

    Egemen Cebeci

    2015-01-01

    Full Text Available Klippel Trenaunay Weber syndrome (KTWS is a rare disease characterized by hemihypertrophy, variceal enlargement of the veins, and arteriovenous (AV malformations. Renal involvement in KTWS is not known except in rare case reports. Herein, we present a case of KTWS with nephrotic syndrome. A 52-year-old male was admitted due to dyspnea and swelling of the body for the last three months. The pathological physical findings were diffuse edema, decreased lung sounds at the right basal site, increased diameter and decreased length of the left leg compared with the right one, diffuse variceal enlargements, and a few hemangiomatous lesions on the left leg. The pathological laboratory findings were hypoalbuminemia, hyperlipidemia, increased creatinine level (1.23 mg/dL, and proteinuria (7.6 g/day. Radiographic pathological findings were cystic lesions in the liver, spleen, and kidneys, splenomegaly, AV malformation on the left posterolateral thigh, and hypertrophy of the soft tissues of the proximal left leg. He was diagnosed to have KTWS with these findings. Renal biopsy was performed to determine the cause of nephrotic syndrome. The pathologic examination was consistent with focal segmental sclerosis (FSGS. He was started on oral methylprednisolone at the dosage of 1 mg/kg and began to be followedup in the nephrology outpatient clinic.

  13. High in situ repeatability of behaviour indicates animal personality in the beadlet anemone Actinia equina (Cnidaria).

    Science.gov (United States)

    Briffa, Mark; Greenaway, Julie

    2011-01-01

    'Animal personality' means that individuals differ from one another in either single behaviours or suites of related behaviours in a way that is consistent over time. It is usually assumed that such consistent individual differences in behaviour are driven by variation in how individuals respond to information about their environment, rather than by differences in external factors such as variation in microhabitat. Since behavioural variation is ubiquitous in nature we might expect 'animal personality' to be present in diverse taxa, including animals with relatively simple nervous systems. We investigated in situ startle responses in a sea anemone, Actinia equina, to determine whether personalities might be present in this example of an animal with a simple nervous system. We found very high levels of repeatability among individuals that were re-identified in the same locations over a three week sampling period. In a subset of the data, where we used tide-pool temperature measurements to control for a key element of variation in microhabitat, these high levels of repeatability remained. Although a range of other consistent differences in micro-habitat features could have contributed to consistent differences between the behaviour of individuals, these data suggest the presence of animal personality in A. equina. Rather than being restricted to certain groups, personality may be a general feature of animals and may be particularly pronounced in species with simple nervous systems.

  14. High in situ repeatability of behaviour indicates animal personality in the beadlet anemone Actinia equina (Cnidaria.

    Directory of Open Access Journals (Sweden)

    Mark Briffa

    Full Text Available 'Animal personality' means that individuals differ from one another in either single behaviours or suites of related behaviours in a way that is consistent over time. It is usually assumed that such consistent individual differences in behaviour are driven by variation in how individuals respond to information about their environment, rather than by differences in external factors such as variation in microhabitat. Since behavioural variation is ubiquitous in nature we might expect 'animal personality' to be present in diverse taxa, including animals with relatively simple nervous systems. We investigated in situ startle responses in a sea anemone, Actinia equina, to determine whether personalities might be present in this example of an animal with a simple nervous system. We found very high levels of repeatability among individuals that were re-identified in the same locations over a three week sampling period. In a subset of the data, where we used tide-pool temperature measurements to control for a key element of variation in microhabitat, these high levels of repeatability remained. Although a range of other consistent differences in micro-habitat features could have contributed to consistent differences between the behaviour of individuals, these data suggest the presence of animal personality in A. equina. Rather than being restricted to certain groups, personality may be a general feature of animals and may be particularly pronounced in species with simple nervous systems.

  15. Embryo with XYY syndrome presenting with clubfoot: a case report

    Science.gov (United States)

    Tsakalidis, Christos; Tampakoudis, George P; Papastergiou, Maria N; Tzevelekis, Fillipos; Pados, George; Assimakopoulos, Efstratios A

    2009-01-01

    Talipes equinovarus (clubfoot) is a skeletal anomaly of the embryo’s legs, with a frequency of 1-3:1000 living born babies. It may occur as an independent anomaly, or as part of a syndrome with concomitant chromosomal abnormalities. XYY syndrome is a quite rare sex chromosomal abnormality with 47, XYY karyotype. Prenatal diagnosis is usually accidental because the syndrome is not associated with increased prevalence of sonographically detectable defects. The possibility of co-existence of skeletal anomalies in embryos with 47, XYY karyotype is scant, with only a few cases reported in the literature. An amniocentesis was performed in an embryo at the 21st week of gestation because clubfoot was detected in the 2nd trimester scan, and the embryo was found to have abnormal karyotype of 47, XYY. Current opinions and management dilemmas are discussed. PMID:19918427

  16. Metastase de carcinoma comprometendo a cauda equina Metastatic carcinoma of the cauda equina: a case report

    Directory of Open Access Journals (Sweden)

    Lígia M. B. Coutinho

    1976-09-01

    Full Text Available É relatado um caso de paciente, de 60 anos, que apresentou tumor nos segmentos apical e posterior direitos, cujo diagnóstico histopatológico foi de carcinoma indiferenciado. O paciente foi submetido à cobaltoterapia, tendo melhorado por três meses, quando foi novamente hospitalizado por dor lombar. A mielografia com lipiodol mostrou processo expansivo intrarraqueano. Mediante cirurgia foi encontrado tumor intra-dural, englobando raízes nervosas. O diagnóstico microscópico foi de carcinoma indiferenciado infiltrando os espaços epi e peri-neurais.The case of a 60 year-old man who had an indifferenciated carcinoma in the lung is reported. He had recieved cobaltotherapy and had improved. After 3 months a lumbar pain had begun and the patient was hospitalized. A myelography with lipiodol demonstrated an intra-dural mass. At operation a big intra-dural tumor including the cauda equina was found. The microscopic examination revealed an undifferenciated carcinoma, that infiltrated the epi and peri-neural space.

  17. [Peripheral neuropathy as a presenting form of Cockayne syndrome].

    Science.gov (United States)

    Campistol Plana, J; Riverola de Veciana, A; Poo Argüelles, P; Colomer Oferil, J; Moreno Hernández, J

    1991-01-01

    We report a clinical observation of an infant aged 5 months with Cockayne syndrome whose symptomatology included failure to thrive, microcephaly, peripheral neuropathy and elevated level of protein in CSF. More typical signs of this syndrome appeared lately with progeroid facies, photosensitivity and intracranial calcifications that computed tomography revealed at 13 months of age. The early onset of clinical manifestations, the association with peripheral neuropathy, and the high level of protein in CSF are unusual facts that led us to do the differential diagnosis with other demyelinating disorders.

  18. Growth hormone deficiency: an unusual presentation of floating harbor syndrome.

    Science.gov (United States)

    Galli-Tsinopoulou, Assimina; Kyrgios, Ioannis; Emmanouilidou, Eleftheria; Maggana, Ioanna; Kotanidou, Eleni; Kokka, Paraskevi; Stylianou, Charilaos

    2011-01-01

    Floating-Harbor Syndrome (FHS) is a very rare condition of unknown etiology characterized by short stature, delayed bone age, characteristic facial features, delayed language skills and usually normal motor development. This syndrome has only once been associated with growth hormone deficiency and precocious puberty in the same patient. We describe a 5 4/12 year-old girl with the typical features of FHS in whom growth hormone deficiency was diagnosed and two years later central precocious puberty was noted. The patient showed a good response to human recombinant growth hormone as well as gonadotropin releasing hormone analogue treatment.

  19. Holt-Oram Syndrome in Adult Presenting with Heart Failure: A Rare Presentation

    Directory of Open Access Journals (Sweden)

    Rupesh Kumar

    2014-01-01

    Full Text Available Holt-Oram syndrome is a rare inherited disorder involving the hands, arms, and the heart. The defects involve carpal bones of the wrist and the thumb and the associated cardiac anomalies like atrial or ventricular septal defects. Congenital cardiac and upper-limb malformations frequently occur together and are classified as heart-hand syndromes. The most common amongst the heart-hand disorders is the Holt-Oram syndrome, which is characterized by septal defects of the heart and preaxial radial ray abnormalities. Its incidence is one in 100,000 live births. Approximately three out of four patients have some cardiac abnormality with common associations being either an atrial septal defect or ventricular septal defect. Herein, we report a rare sporadic case of Holt-Oram syndrome with atrial septal defect with symptoms of heart failure in a forty-five-year-old lady who underwent emergency cardiac surgery for the symptoms.

  20. Brugada-like syndrome presenting with monomorphic ventricular ...

    African Journals Online (AJOL)

    Brugada syndrome is an autosomal-dominant arythmogenic genetic disorder associated with mutation in the SCN5A gene. We report a case of 3-month-old Tanzanian male who was admitted at Muhimbili National Hospital in Dar es Salaam, Tanzania with severe pneumonia, high fever and monomorphic ventricular ...

  1. The patterns of clinical presentations of cerebellar syndromes ...

    African Journals Online (AJOL)

    Gait-ataxia was the most common sign (83%). Cerebrovascular disease was the most common aetiology (25%). Conclusion: Cerebellar syndromes are not rare in Sudan. However, they were diagnosed more commonly at the central regions of the country probably because of more awareness of patients and better facilities

  2. Chediak-Higashi syndrome presenting in the accelerated phase ...

    African Journals Online (AJOL)

    Chediak-Higashi syndrome (CHS) is an extremely rare autosomal recessive disorder characterised by recurrent pyogenic infections, partial oculocutaneous albinism, and mild bleeding. The most reliable finding that helps in diagnosis is abnormally large granules in leukocytes and other granule-containing cells. Herein we ...

  3. Brugada-like syndrome presenting with monomorphic ventricular ...

    African Journals Online (AJOL)

    disorders should be performed in children who exhibit extreme tachycardia or signs of cardiac failure. Keywords: Brugada ... Discussion. The prevalence of Brugada-type ECG in Africa is unknown although a few adult-cases of African- ... without acute coronary syndrome, and (e) or type 1 ST pattern in relatives. Our patient's ...

  4. Guillain barre syndrome as initial presentation of systemic lupus ...

    African Journals Online (AJOL)

    Background: Systemic Lupus Erythematosus (SLE) is an autoimmune disease characterized by multiple organ involvement including the peripheral nervous system. Guillan- Barrè syndrome (GBS) has an established association with SLE as one of its neurologic manifestations. However, GBS as an initial manifestation of ...

  5. Peutz Jeghers Syndrome Presented as intermittent gastric outlet ...

    African Journals Online (AJOL)

    Peutz Jeghers Syndrome (PJS), which was first described in 1921 by Peutz, followed by Jeghers etal in 1949, is an uncommon but not a rare disorder characterized by mucocutaneous melanin pigmentation, gastrointestinal hamartomatous polyps and increased risk of gastrointestinal and other organs cancer. The polyps ...

  6. Redundant nerve roots of the cauda equina : MR findings

    Energy Technology Data Exchange (ETDEWEB)

    Oh, Kyu Hyen; Lee, Jung Man; Jung, Hak Young; Lee, Young Hwan; Sung, Nak Kwan; Chung, Duck Soo; Kim, Ok Dong [Catholic University of Taegu-Hyosung, College of Medicine, Taegu (Korea, Republic of); Lee, Sang Kwon; Suh, Kyung Jin [Kyungbuk National Univ. College of Medicine, Taegu (Korea, Republic of)

    1997-07-01

    To evaluate MR findings of redundant nerve roots (RNR) of the cauda equina. 17 patients with RNR were studied; eight were men and nine were women, and their ages ranged from 46 to 82 (mean 63) years. Diagroses were established on the basis of T2-weighted sagittal and coronal MRI, which showed a tortuous or coiled configuration of the nerve roots of the cauda equina. MR findings were reviewed for location, magnitude, and signal intensity of redundant nerve roots, and the relationship between magnitude of redundancy and severity of lumbar spinal canal stenosis (LSCS) was evaluated. In all 17 patients, MR showed moderate or severe LSCS caused by herniation or bulging of an intervertebral disc, osteophyte from the vertebral body or facet joint, thickening of the ligamentum flavum, degenerative spondylolisthesis, or a combination of these. T2-weighted sagittal and coronal MR images well clearly showed the location of RNR of the cauda equina;in 16 patients(94%), these were seen above the level of constriction of the spinal canal, and in one case, they were observed below the level of constriction. T2-weighted axial images showed the thecal sac filled with numerous nerve roots. The magnitude of RNR was mild in six cases (35%), moderate in five cases (30%), and severe in six cases (35%). Compared with normal nerve roots, the RNR signal on T2-weighted images was iso-intense. All patients with severe redundancy showed severe LSCS, but not all cases with severe LSCS showed severe redundancy. Redundant nerve roots of cauda equina were seen in relatively older patients with moderate or severe LSCS and T2-weighted MR images were accurate in identifying redundancy of nerve roots and evaluating their magnitude and location.

  7. Early presentation of gait impairment in Wolfram Syndrome

    Directory of Open Access Journals (Sweden)

    Pickett Kristen A

    2012-12-01

    Full Text Available Abstract Background Classically characterized by early onset insulin-dependent diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological abnormalities, Wolfram syndrome (WFS is also associated with atypical brainstem and cerebellar findings in the first decade of life. As such, we hypothesized that gait differences between individuals with WFS and typically developing (TD individuals may be detectable across the course of the disease. Methods Gait was assessed for 13 individuals with WFS (min 6.4 yrs, max 25.8 yrs and 29 age-matched, typically developing individuals (min 5.6 yrs, max 28.5 yrs using a GAITRite ® walkway system. Velocity, cadence, step length, base of support and double support time were compared between groups. Results Across all tasks, individuals with WFS walked slower (p = 0.03, took shorter (p ≤ 0.001 and wider (p ≤ 0.001 steps and spent a greater proportion of the gait cycle in double support (p = 0.03 compared to TD individuals. Cadence did not differ between groups (p = 0.62. Across all tasks, age was significantly correlated with cadence and double support time in the TD group but only double support time was correlated with age in the WFS group and only during preferred pace forward (rs= 0.564, p = 0.045 and dual task forward walking (rs= 0.720, p = 0.006 tasks. Individuals with WFS also had a greater number of missteps during tandem walking (p ≤ 0.001. Within the WFS group, spatiotemporal measures of gait did not correlate with measures of visual acuity. Balance measures negatively correlated with normalized gait velocity during fast forward walking (rs = −0.59, p = 0.03 and percent of gait cycle in double support during backward walking (rs = −0.64, p = 0.03. Conclusions Quantifiable gait impairments can be detected in individuals with WFS earlier than previous clinical observations suggested. These impairments are not fully accounted for by the visual or balance deficits

  8. [Neuromyelitis optica spectrum disorders as initial presentation of Sjögren's syndrome: A case report].

    Science.gov (United States)

    Alva Díaz, Carlos; Andamayo Villalba, Luis; Mori, Nicanor; Ventura Chilón, Jésica Janet; Romero, Roberto

    2016-02-29

    Neuromyelitis Optica Spectrum Disorder (NMOSD) is a rare systemic autoimmune disease which is sometimes found in association with other autoimmune disorders including Sjogren's syndrome. Neurological manifestations occur in 20% to 25% of diagnosed cases of Sjögren's syndrome; however, less than 5% of patients with Sjögren's syndrome have neurological manifestations as the initial presenting feature of Sjögren's syndrome. We report the case of an elderly female with longitudinal myelitis as a presenting feature who had positive antibody to aquaporin-4 (NMO-IgG) and Sjögren's syndrome.

  9. Currarino's syndrome in twins presenting as neonatal intestinal obstruction—identical presentation in non-identical twins

    Science.gov (United States)

    Patel, Ramnik V; De Coppi, Paolo; Kiely, Edward; Pierro, Agostino

    2014-01-01

    We report a case of non-identical twins who presented with identical neonatal intestinal obstruction with features of anorectal stenosis, presacral mass and sacral anomaly consistent with Currarino’s syndrome or triad. Plain sacral radiograph, contrast enema and MRI were diagnostic. Initial management involved a defunctioning colostomy followed by a posterior sagittal anorectoplasty with excision of the teratoma±anterior sacral meningocele and finally closure of colostomy in a staged multidisciplinary approach. The twins’ father is also affected with features of Currarino’s syndrome but was diagnosed during family screening. Currarino's syndrome presenting with identical neonatal low intestinal obstruction in a non-identical set of twins is rare and interesting. Antenatal diagnosis of Currarino's syndrome is difficult and may prove to be a challenge even in the postnatal period. Sacral spine radiograph, contrast enema and MRI are diagnostic. Management requires high index of suspicion, low threshold for MRI and multidisciplinary staged approach. PMID:25199187

  10. Guillain-Barré Syndrome presenting with bilateral facial nerve paralysis: a case report

    OpenAIRE

    Narayanan, Ram Prakash; James, Nirmal; Ramachandran, Kannan; Jaramillo, Mario J

    2008-01-01

    Bilateral paralysis of the facial nerve is a relatively rare presentation and often indicates a serious underlying medical condition. Guillain-Barré syndrome needs to be considered, among others in the differential diagnoses of such presentation. We present here the case of a 35 year old female who presented with bilateral facial nerve paralysis due to the Guillain-Barré syndrome.

  11. Autoimmune Polyglandular Syndrome Type 2: An Unusual Presentation

    Directory of Open Access Journals (Sweden)

    Hamdollah Karamifar

    2010-05-01

    Full Text Available "nAutoimmune polyglandular syndrome (APS type 2 is characterized by the presence of Addison's disease, in association with autoimmune thyroid disease and/or type 1 diabetes mellitus. APS type 2 occurs most often in middle aged females and is rare in children. Here an 11 year old boy is reported with Addison's disease who developed symptom's of diabetes mellitus, goiter, malabsorption, macrocytic anemia and keratitis. APS type 2 occurs most often in middle aged females and is quite rare in children but one should think to autoimmune poly glandular syndrome type II in patient at any age especially in patients with Addison's disease.

  12. Guillain–Barré syndrome presenting with Raynaud’s phenomenon: a case report

    OpenAIRE

    Gunatilake, Sonali Sihindi Chapa; Wimalaratna, Harith

    2014-01-01

    Background Guillain–Barré syndrome is an immune mediated acute inflammatory polyradiculo-neuropathy involving the peripheral nervous system. Commonest presentation is acute or subacute flaccid ascending paralysis of limbs. Rarely autonomic dysfunction can be the presenting feature of Guillain–Barré syndrome. Raynaud’s phenomenon, although had been described in relation to many disease conditions, has not been described in association with Guillain–Barré syndrome up to date. Case presentation ...

  13. Chédiak-Higashi syndrome: presentation of seven cases

    OpenAIRE

    Carnide, Eugénia Maria Grilo; Jacob, Cristina Miuki Abe; Pastorino, Antonio Carlos; Bellinati-Pires, Raquel; Costa, Maria Beatriz Guimarães; Grumach, Anete Sevciovic

    1998-01-01

    CONTEXT: Chédiak-Higashi Syndrome (CHS) is a rare autosomal recessive disease characterized by recurrent infections, giant cytoplasmic granules, and oculocutaneous albinism. OBJECTIVE: To describe clinical and laboratory findings from CHS patients. DESIGN: Case report. SETTING: The patients were admitted into the Allergy and Immunology Unit of the Instituto da Criança, a tertiary public care institution. CASES REPORT: Seven patients had oculocutaneous albinism, recurrent infections and gi...

  14. Battered woman syndrome: An unusual presentation of pseudodystonia

    OpenAIRE

    Sadanandavalli Retnaswami Chandra; Thomas Gregor Issac

    2014-01-01

    Pseudodystonia is the term used to define abnormal postures, which are not due to the disorders of the basal ganglia and is encountered very rarely in clinical practice and often difficult to distinguish from true dystonia syndromes. We report a rare case of a battered woman who was managed as restricted resistant dystonia with pharmacotherapy and intrathecal baclofen and referred for considering deep brain stimulation (DBS). The patient turned out to be a case of pseudodystonia due to bilate...

  15. Levamisole-induced Necrosis Syndrome: Presentation and Management.

    Science.gov (United States)

    Fredericks, Charles; Yon, James R; Alex, Gillian; Morton, Molly; Messer, Thomas; Bokhari, Faran; Poulakidas, Stathis

    2017-03-01

    Levamisole is an antihelminthic drug with immunomod- ulatory properties. Recent estimates suggest the majority of the cocaine in the United States is adulterated with levamisole. Le- vamisole-induced necrosis syndrome (LINES) is characterized by vasculitis, neutropenia, and purpura that progresses to skin necro- sis. Diagnosis relies on physical examination ndings and history of previous cocaine use. The purpose of this case series is to describe the pathophysiology, diagnosis, and management of LINES. The au- thors' institutional database was reviewed from 2008 to 2015, and they found 3 patients with LINES. Subsequent management and outcomes data are discussed. Patients had a variety of outcomes ranging from local wound care to necrosis and amputation of pha- langes. Patients with LINES can have a wide variety of outcomes; thus, this syndrome must be aggressively managed. Psychotherapy should also be utilized to help patients with further cocaine use. Levamisole-induced necrosis syndrome incidence is expected to in- crease, and all providers should be aware of this patient population.

  16. A case of Pitt-Hopkins syndrome presented with Angelman-like syndromic phenotypes.

    Science.gov (United States)

    Hong, Syuan-Yu; Chou, I-Ching; Lin, Wei-De; Tsai, Fuu-Jen

    2016-12-01

    Pitt-Hopkins syndrome (PTHS), caused by a TCF4 gene mutation, is a condition characterized by intellectual disability and developmental delay, breathing anomalies, epilepsy, and distinctive facial dysmorphism [1]. Its diverse clinical appearance causes pediatricians to confuse it with Angelman syndrome, which is considered one of the family members of Angelman-like syndrome. Herein, we report on a 4 y/o boy with PTHS and discuss its similarities and differences with Angelman syndrome. In doing so we hope to provide a feasible pathway to diagnose rare diseases, especially Angelman-like syndrome.

  17. A case of cauda equina cavernous angioma coexisting with multiple cerebral cavernous angiomas.

    Science.gov (United States)

    Takeshima, Yasuhiro; Marutani, Akiko; Tamura, Kentaro; Park, Young-Su; Nakase, Hiroyuki

    2014-08-01

    The simultaneous presence of cavernous angiomas in both the brain and spinal cord is a very rare finding, as is the location of a cavernous angioma in the cauda equina. We reported a unique case of coexisting with multiple cerebral cavernous angiomas in the brain and cauda equina.

  18. Disruptive technology disorder: A past, present, and future neurologic syndrome.

    Science.gov (United States)

    Weaver, Donald F

    2017-07-25

    Based upon an analysis of 6 major historical technological advances over the last 150 years, a new syndrome, disruptive technology disorder (DTD), is introduced. DTD describes the human health ailments that accompany the implementation of disruptive technologies. Elevator sickness, railway spine, and bicycle face are representative examples. Though the underlying causative disruptive technologies may differ, many neurologic symptoms (headache, dizziness, weakness) are common to multiple DTDs. Born of technology-driven societal change, DTDs manifest as a complex interplay between biological and psychological symptoms. © 2017 American Academy of Neurology.

  19. [Differential diagnosis of Dandy-Walker syndrome different presentations].

    Science.gov (United States)

    Tobías-González, Pablo; Gil Mira, Mar; Valero de Bernabé, Javier; Zapardiel, Ignacio

    2012-08-01

    Dandy-Walker syndrome is a set of abnormalities of the posterior fossa including three modalities: classic Dandy-Walker malformation, Dandy-Walker variant and mega-cisterna magna. Our objective is clarify the differential diagnosis among these entities. Descriptive and retrospective study of Dandy-Walker cases diagnosed at our Department during the last five years plus a review of the related Medical literature. Three cases of Dandy-Walker modalities are reported: one case of classic Dandy-Walker malformation, one case of Dandy-Walker variant, and one case of false Dandy-Walker. In the first two cases the patients underwent legal abortion, whereas in the last one a healthy male newborn was delivered in the week 38 of gestation. Malformations in the posterior fossa, including Dandy-Walker syndrome, are still a challenge in prenatal diagnosis. Technical developments in imaging, such as in three-dimensional sonography and magnetic resonance, allow higher resolution and multiplanar images for an easier diagnose. There is a high rate of false positive, particularly before the 18th week of gestation. It is advisable not to establish a final diagnose before that week.

  20. SAPHO syndrome presenting as an osteolytic lesion of the neck.

    Science.gov (United States)

    Mateo, Lourdes; Sanint, Juana; Rodríguez Muguruza, Samantha; Martínez Morillo, Melania; Pérez Andrés, Ricard; Domenech Puigcerver, Sira

    We report a case of acute-onset multifocal vertebral osteitis with a marked impact on the patient's general health. The radiological, scintigraphic and magnetic resonance findings made it necessary to carry out a differential diagnosis to distinguish it from an infiltrative neoplastic process and determine whether it had an infectious or an inflammatory etiology. The presence of noninfectious multifocal osteitis and sternoclavicular arthritis and the subsequent development of plantar pustulosis pointed to SAPHO syndrome. Treatment with infliximab led to improvement in the clinical symptoms, laboratory values and radiological abnormalities. Copyright © 2015 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  1. Chédiak-Higashi syndrome: presentation of seven cases

    Directory of Open Access Journals (Sweden)

    Eugénia Maria Grilo Carnide

    Full Text Available CONTEXT: Chédiak-Higashi Syndrome (CHS is a rare autosomal recessive disease characterized by recurrent infections, giant cytoplasmic granules, and oculocutaneous albinism. OBJECTIVE: To describe clinical and laboratory findings from CHS patients. DESIGN: Case report. SETTING: The patients were admitted into the Allergy and Immunology Unit of the Instituto da Criança, a tertiary public care institution. CASES REPORT: Seven patients had oculocutaneous albinism, recurrent infections and giant cytoplasmic granules in the leukocytes. One patient had low IgG levels and three showed impaired bactericidal activity of neutrophils. Six patients died of infectious complications during the accelerated phase. Therapy included ascorbic acid and antibiotics. Chemotherapy was used for the accelerated phase in two patients. Bone marrow transplantation (BMT was proposed for one patient. DISCUSSION: The authors emphasize the need for early diagnosis and therapy of CHS. BMT should be indicated before the accelerated phase of the disease has developed.

  2. Battered woman syndrome: An unusual presentation of pseudodystonia

    Directory of Open Access Journals (Sweden)

    Sadanandavalli Retnaswami Chandra

    2014-01-01

    Full Text Available Pseudodystonia is the term used to define abnormal postures, which are not due to the disorders of the basal ganglia and is encountered very rarely in clinical practice and often difficult to distinguish from true dystonia syndromes. We report a rare case of a battered woman who was managed as restricted resistant dystonia with pharmacotherapy and intrathecal baclofen and referred for considering deep brain stimulation (DBS. The patient turned out to be a case of pseudodystonia due to bilateral hip dislocation. This was due to assault by a close relative and the history was masked by the patient for more than one and a half years. In a patient with late onset dystonia, who is resistant to the recommended treatment for dystonia along with atypical clinical features and electrophysiological parameters, pseudodystonia should always be considered as a possible diagnosis and evaluated for causes of the same.

  3. Battered woman syndrome: An unusual presentation of pseudodystonia.

    Science.gov (United States)

    Chandra, Sadanandavalli Retnaswami; Issac, Thomas Gregor

    2014-04-01

    Pseudodystonia is the term used to define abnormal postures, which are not due to the disorders of the basal ganglia and is encountered very rarely in clinical practice and often difficult to distinguish from true dystonia syndromes. We report a rare case of a battered woman who was managed as restricted resistant dystonia with pharmacotherapy and intrathecal baclofen and referred for considering deep brain stimulation (DBS). The patient turned out to be a case of pseudodystonia due to bilateral hip dislocation. This was due to assault by a close relative and the history was masked by the patient for more than one and a half years. In a patient with late onset dystonia, who is resistant to the recommended treatment for dystonia along with atypical clinical features and electrophysiological parameters, pseudodystonia should always be considered as a possible diagnosis and evaluated for causes of the same.

  4. Ramsay Hunt syndrome presenting as “a window'' to HIV diagnosis ...

    African Journals Online (AJOL)

    The diagnosis of Ramsay Hunt syndrome, gives a window of opportunity to investigate for HIV. Here we report our first case of Ramsay Hunt syndrome as a presenting feature of HIV disease in an apparently healthy looking 48 year old black African female who was unaware of her HIV status at the time of presentation.

  5. Eight-and-a-half syndrome as presenting sign of childhood multiple sclerosis

    DEFF Research Database (Denmark)

    Mortzos, Panteleimon; Nordling, Mette Maria; Sørensen, Torben Lykke

    2014-01-01

    We present a case of a 12-year-old boy with eight-and-a-half syndrome that consequently proved to be a sign of childhood multiple sclerosis.......We present a case of a 12-year-old boy with eight-and-a-half syndrome that consequently proved to be a sign of childhood multiple sclerosis....

  6. Evans syndrome and systemic lupus erythematosus: clinical presentation and outcome.

    Science.gov (United States)

    Costallat, Guilherme Lavras; Appenzeller, Simone; Costallat, Lilian Tereza Lavras

    2012-07-01

    To review the clinical, laboratory and outcome features of Evans syndrome (ES) in systemic lupus erythematosus (SLE) patients. We reviewed the charts of 953 SLE patients followed up regularly at our service. ES was defined as the presence of hemolytic anemia and thrombocytopenia concomitantly or sequentially. Clinical and laboratory manifestations occurring during the disease course, as well as concomitant diseases and survival was carefully reviewed. We identified ES in 26 of 953 (2.7%) SLE patients. Twenty-three were women with mean age at SLE diagnosis of 25.7 years. Four (15%) patients had disease onset before the age of 16. In the majority of patients (92%), immune thrombocytopenia and AIHA appeared simultaneously at the beginning of SLE. Active features of SLE were a frequent finding concomitant to ES, especially arthritis (77%), malar rash (61.5%), photosensitivity (57.6%), oral ulcers (34.6%), nephritis (73%), serositis (54%), neuropsychiatric (19%) and pulmonary (15%) manifestations. In addition to this multisystemic disease, 34.6% of our patients had an association with another autoimmune disease such as antiphospholipid syndrome. Recurrence of ES was observed in only four (15%) patients. After follow-up time of 8.72 years, 19 patients (73%) were in remission and seven (27%) patients died. ES is a rare manifestation in SLE, occurring in patients with severe multisystemic SLE manifestations. Treatment strategies frequently used in SLE contribute to longer disease remission and less frequent exacerbation than observed in the general population with ES. Copyright © 2011 Société française de rhumatologie. Published by Elsevier SAS. All rights reserved.

  7. Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome

    OpenAIRE

    Jedraszak, Guillaume; Receveur, Aline; Andrieux, Joris; Mathieu-Dramard, Michèle; Copin, Henri; Morin, Gilles

    2015-01-01

    Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability. Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, resulting in partial tetrasomy of 22p-22q11.21. There are two types of small supernumerary marker chrom...

  8. Pancoast syndrome: A rare presentation of non-Hodgkin′s lymphoma

    Directory of Open Access Journals (Sweden)

    Anirban Sarkar

    2013-01-01

    Full Text Available Pancoast syndrome is a common presentation of bronchogenic carcinoma, but other malignancies are rarely cited as its cause. Pancoast syndrome due to non-Hodgkin′s lymphoma is rarely described in the literature. Here, we report a case of Pancoast syndrome due to non-Hodgkin′s lymphoma to increase the awareness of the clinicians regarding essentiality of tissue diagnosis of Pancoast tumor before starting the treatment.

  9. Lynch syndrome in South America: past, present and future.

    Science.gov (United States)

    Vaccaro, Carlos A; Sarroca, Carlos; Rossi, Benedito; Lopez-Kostner, Francisco; Dominguez, Mev; Calo, Natalia Causada; Cutait, Raul; Valle, Adriana Della; Nuñez, Lina; Neffa, Florencia; Alvarez, Karin; Gonzalez, Maria Laura; Kalfayan, Pablo; Lynch, Henry T; Church, James

    2016-07-01

    After decades of unawareness about Lynch syndrome, the medical community in South America is increasingly interested and informed. The visits and support of mentors like H. T. Lynch had been crucial to this awakening. Several countries have at least one registry with skilled personnel in genetic counseling and research. However, this only represents a very restricted resource for the region. According to the GETH, there are 27 hereditary cancer care centers in South America (21 in Brazil, 3 in Argentina, 1 in Uruguay, 1 in Chile and 1 in Peru). These registries differ in fundamental aspects of function, capabilities and funding, but are able to conduct high quality clinical, research and educational activities due to the dedication and personal effort of their members, and organizational support. More support from the governments as well as the participation of the community would boost the initiatives of people leading these groups. Meantime, the collaboration among the South American registries and the involvement of registries and leaders from developed countries will allow to maximize the efficiency in caring for affected patients and their families. The aim of this article is to describe how the knowledge of LS began to be spread in South America, how the first registries were organized and to summarize the current state of progress. In addition, we will provide an update of the clinical and molecular findings in the region.

  10. DIFFERENTIATION SYNDROME IN PROMYELOCYTIC LEUKEMIA : CLINICAL PRESENTATION, PATHOGENESIS AND TREATMENT

    Directory of Open Access Journals (Sweden)

    Eduardo Magalhães Rego

    2011-10-01

    Full Text Available Differentiation syndrome (DS represents a life-threatening complication in patients with acute promyelocytic leukemia (APL undergoing induction therapy with all-trans retinoic acid (ATRA or arsenic trioxide (ATO. It affects about 20-25% of all patients and there are no definitive diagnostic criteria. Clinically, DS is characterized by weight gain, fever not attributable to infection, respiratory distress, cardiac involvement, hypotension, and/or acute renal failure. At the histological point of view, there is an extensive interstitial and intra-alveolar pulmonary infiltration by maturing myeloid cells, endothelial cell damage, intra-alveolar edema, inter-alveolar hemorrhage, and fibrinous exsudates. DS pathogenesis is not completely understood, but it is believed that an excessive inflammatory response is the main phenomenon involved, which results in increased production of chemokines and expression of adhesion molecules on APL cells. Due to the high morbidity and mortality associated with DS, its recognition and the prompt initiation of the treatment is of utmost importance. Dexamethasone is considered the mainstay of treatment of DS, and the recommended dose is 10 mg twice daily by intravenous route until resolution of DS. In severe cases (respiratory or acute renal failure it is recommended the discontinuation of ATRA or ATO until recovery.

  11. Horner syndrome following thyroid surgery: The clinical and pharmacological presentations

    Directory of Open Access Journals (Sweden)

    Giuseppe Giannaccare

    2016-01-01

    Full Text Available Purpose: To report the clinical and pharmacological findings of a patient with iatrogenic Horner syndrome (HS which occurred after thyroid surgery. Case Report: A 29-year-old man was referred to our emergency ward due to anisocoria and unilateral eyelid ptosis reported by the patient immediately after a recent thyroidectomy for a papillary carcinoma. Ophthalmologic examination revealed 3 mm ptosis of the right eyelid. In dim illumination, the right and left pupil size was measured 3 and 6 mm, respectively. In bright illumination, the amount of anisocoria decreased; the near pupillary reaction was intact. Brain and neck magnetic resonance imaging and chest radiography were normal. Pharmacological tests with 10% cocaine, 1% hydroxyamphetamine and 1% phenylephrine localized the interruption of the oculosympathetic pathway with postganglionic third-order neuron involvement. After 6 months of follow-up, no sign of recovery was recorded. Conclusion: Despite HS could appear to be a rare complication of thyroid surgery, it is of importance for the neck surgeons to be aware that oculosympathetic pathway (OSP is a potentially vulnerable structure with close anatomical relationship with the thyroid gland, and for the ophthalmologists that HS may occur secondary to neck surgery and taking an accurate history is mandatory.

  12. A case of late-onset allgrove syndrome presenting with predominant autonomic dysfunction

    Directory of Open Access Journals (Sweden)

    Debmalya Sanyal

    2013-01-01

    Full Text Available Allgrove Syndrome or triple A syndrome is a rare familial multisystem disorder characterized by achalasia, alacrima and adrenal insufficiency. The objective was to describe a case of 4A syndrome where autonomic dysfunction was the presenting feature. A 22-year-old male presented with erectile dysfunction and loss of spontaneous morning erections for six months. He was having nocturnal diarrhea and recurrent postural dizziness for three months. He was found to have hyperpigmentation at pressure points, postural hypotension and other features of autonomic dysfunction. Laboratory investigations and imaging studies revealed hypoadrenalism, achalasia, alacrima and peripheral neuropathy. Autonomic neuropathy-related features persisted even after correction of hypoadrenalism. Based on clinical features and investigation he was diagnosed as a case of 4A syndrome presenting with autonomic dysfunction. Allgrove or 4A syndrome should be considered as a rare differential diagnosis of someone presenting with features of autonomic neuropathy.

  13. Mirror syndrome: a systematic review of fetal associated conditions, maternal presentation and perinatal outcome.

    Science.gov (United States)

    Braun, Thorsten; Brauer, Martin; Fuchs, Ilka; Czernik, Christoph; Dudenhausen, Joachim Wolfram; Henrich, Wolfgang; Sarioglu, Nanette

    2010-01-01

    Mirror syndrome, also referred to as Ballantyne's syndrome, is normally defined as the development of maternal edema in association with fetal hydrops. The incidence of mirror syndrome is low and few cases have been published. We describe a case report in association with fetal Ebstein anomaly and provide a systematic review on the fetal associated conditions, maternal presentation and perinatal outcome reported for mirror syndrome. A PubMed database search was done until December 2008 (English, French or German) without any restriction of publication date or journal, using the following key words: Ballantyne syndrome, Mirror syndrome, Triple edema, Pseudotoxemia, Maternal hydrops syndrome, Pregnancy toxemia, Acute second trimester gestosis, and Early onset preeclampsia. Reported cases were considered eligible when fetal associated conditions, maternal symptoms and fetal outcome were clearly described. Among 151 publications a total of 56 reported cases satisfying all inclusion criteria were identified. Mirror syndrome was associated with rhesus isoimmunization (29%), twin-twin transfusion syndrome (18%), viral infection (16%) and fetal malformations, fetal or placental tumors (37.5%). Gestational age at diagnosis ranged from 22.5 to 27.8 weeks of gestation. Maternal key signs were edema (80-100%), hypertension (57-78%) and proteinuria (20-56%). The overall rate of intrauterine death was 56%. Severe maternal complications including pulmonary edema occurred in 21.4%. Maternal symptoms disappeared 4.8-13.5 days after delivery. Mirror syndrome is associated with a substantial increase in fetal mortality and maternal morbidity. Copyright 2010 S. Karger AG, Basel.

  14. Absinthism: a fictitious 19th century syndrome with present impact

    Directory of Open Access Journals (Sweden)

    Lachenmeier Dirk W

    2006-05-01

    Full Text Available Abstract Absinthe, a bitter spirit containing wormwood (Artemisia absinthium L., was banned at the beginning of the 20th century as consequence of its supposed unique adverse effects. After nearly century-long prohibition, absinthe has seen a resurgence after recent de-restriction in many European countries. This review provides information on the history of absinthe and one of its constituent, thujone. Medical and toxicological aspects experienced and discovered before the prohibition of absinthe are discussed in detail, along with their impact on the current situation. The only consistent conclusion that can be drawn from those 19th century studies about absinthism is that wormwood oil but not absinthe is a potent agent to cause seizures. Neither can it be concluded that the beverage itself was epileptogenic nor that the so-called absinthism can exactly be distinguished as a distinct syndrome from chronic alcoholism. The theory of a previous gross overestimation of the thujone content of absinthe may have been verified by a number of independent studies. Based on the current available evidence, thujone concentrations of both pre-ban and modern absinthes may not have been able to cause detrimental health effects other than those encountered in common alcoholism. Today, a questionable tendency of absinthe manufacturers can be ascertained that use the ancient theories of absinthism as a targeted marketing strategy to bring absinthe into the spheres of a legal drug-of-abuse. Misleading advertisements of aphrodisiac or psychotropic effects of absinthe try to re-establish absinthe's former reputation. In distinction from commercially manufactured absinthes with limited thujone content, a health risk to consumers is the uncontrolled trade of potentially unsafe herbal products such as absinthe essences that are readily available over the internet.

  15. Absinthism: a fictitious 19th century syndrome with present impact

    Science.gov (United States)

    Padosch, Stephan A; Lachenmeier, Dirk W; Kröner, Lars U

    2006-01-01

    Absinthe, a bitter spirit containing wormwood (Artemisia absinthium L.), was banned at the beginning of the 20th century as consequence of its supposed unique adverse effects. After nearly century-long prohibition, absinthe has seen a resurgence after recent de-restriction in many European countries. This review provides information on the history of absinthe and one of its constituent, thujone. Medical and toxicological aspects experienced and discovered before the prohibition of absinthe are discussed in detail, along with their impact on the current situation. The only consistent conclusion that can be drawn from those 19th century studies about absinthism is that wormwood oil but not absinthe is a potent agent to cause seizures. Neither can it be concluded that the beverage itself was epileptogenic nor that the so-called absinthism can exactly be distinguished as a distinct syndrome from chronic alcoholism. The theory of a previous gross overestimation of the thujone content of absinthe may have been verified by a number of independent studies. Based on the current available evidence, thujone concentrations of both pre-ban and modern absinthes may not have been able to cause detrimental health effects other than those encountered in common alcoholism. Today, a questionable tendency of absinthe manufacturers can be ascertained that use the ancient theories of absinthism as a targeted marketing strategy to bring absinthe into the spheres of a legal drug-of-abuse. Misleading advertisements of aphrodisiac or psychotropic effects of absinthe try to re-establish absinthe's former reputation. In distinction from commercially manufactured absinthes with limited thujone content, a health risk to consumers is the uncontrolled trade of potentially unsafe herbal products such as absinthe essences that are readily available over the internet. PMID:16722551

  16. Absinthism: a fictitious 19th century syndrome with present impact.

    Science.gov (United States)

    Padosch, Stephan A; Lachenmeier, Dirk W; Kröner, Lars U

    2006-05-10

    Absinthe, a bitter spirit containing wormwood (Artemisia absinthium L.), was banned at the beginning of the 20th century as consequence of its supposed unique adverse effects. After nearly century-long prohibition, absinthe has seen a resurgence after recent de-restriction in many European countries. This review provides information on the history of absinthe and one of its constituent, thujone. Medical and toxicological aspects experienced and discovered before the prohibition of absinthe are discussed in detail, along with their impact on the current situation. The only consistent conclusion that can be drawn from those 19th century studies about absinthism is that wormwood oil but not absinthe is a potent agent to cause seizures. Neither can it be concluded that the beverage itself was epileptogenic nor that the so-called absinthism can exactly be distinguished as a distinct syndrome from chronic alcoholism.The theory of a previous gross overestimation of the thujone content of absinthe may have been verified by a number of independent studies. Based on the current available evidence, thujone concentrations of both pre-ban and modern absinthes may not have been able to cause detrimental health effects other than those encountered in common alcoholism. Today, a questionable tendency of absinthe manufacturers can be ascertained that use the ancient theories of absinthism as a targeted marketing strategy to bring absinthe into the spheres of a legal drug-of-abuse. Misleading advertisements of aphrodisiac or psychotropic effects of absinthe try to re-establish absinthe's former reputation. In distinction from commercially manufactured absinthes with limited thujone content, a health risk to consumers is the uncontrolled trade of potentially unsafe herbal products such as absinthe essences that are readily available over the internet.

  17. Encasement of the Cauda Equina After Early Childhood Meningitis: Case Report and Review of the Literature.

    Science.gov (United States)

    Gubian, Arthur; Rosahl, Steffen K

    2016-12-01

    Arachnopathy following meningitis has been described in the setting of chronic spinal arachnoiditis and more recently as shunt-related progressive myelopathy due to meningeal thickening. We describe an atypical case of a patient who presented with chronic arachnopathy 5 decades after an episode of meningitis. We also review the literature concerning arachnopathies occurring in the context of early childhood meningitis. Although our case bore clinical and radiologic similarities to chronic spinal arachnoiditis and shunt-related progressive myelopathy, time to symptom onset, intraoperative findings, pathophysiology, and surgical outcome set it apart from both conditions. It is challenging but worthwhile to recognize this separate entity because, in contrast to both shunt-related progressive myelopathy due to meningeal thickening and adhesive arachnoiditis, surgery involving microsurgical dissection of the thick arachnoid encasement of the cauda equina may be curative in medically refractory cases. Copyright © 2016 Elsevier Inc. All rights reserved.

  18. Fortpflanzung und Sexualität von Cereus pedunculatus und Actinia equina (Anthozoa, Actiniaria)

    Science.gov (United States)

    Schäfer, W.

    1981-12-01

    Sexuality and reproductive behaviour of Cereus pedunculatus (Pennant) and several forms (subspecies) of Actinia equina (L.) from populations collected along the French Atlantic Sea coast and in different habitats along the European Mediterranean coast were studied. At the stage of 96 septae C. pedunculatus and A. e. atlantica II exhibited mature oocytes which developed parthenogenetically into larvae. The latter appeared simultaneously in the gastrocoele. Adolescent A. e. atlantica II developed very few mature oocytes and larvae. Following a sterile period, oocytes and young individuals of different age groups were present almost throughout the whole year in adult anemones. A. e. mediterranea I was dioecious and oviparous in any habitat observed. Samples of the larviparous A. e. mediterranea II (collected near Banyuls, France) exhibited male gonads exclusively and contained larvae. Spontaneous longitudinal fission was occasionally observed in adult A. e. mediterranea I and adolescent A. e. atlantica II.

  19. Hyperhomocysteinemia presenting as Wallenberg syndrome: A report of two cases and review of literature

    Directory of Open Access Journals (Sweden)

    Puneet Chabbra

    2015-01-01

    Full Text Available Wallenberg syndrome or lateral medullary syndrome occurs due to infarction of the lateral medulla usually supplied by the posterior inferior cerebellar artery (PICA. It most commonly results from occlusion of the vertebral artery followed by the PICA. The clinical manifestations result from impaired functioning of vestibular nuclei, inferior cerebellar peduncle, central tegmental tract, descending sympathetic fibers, nucleus ambiguus, spinothalamic tracts and spinal trigeminal nucleus. The clinical manifestations include dysphagia, nausea, vomiting, ataxia, Horner′s syndrome, ipsilateral loss of pain and temperature over the face and contralateral loss over the trunk and body etc. Manifestations depend on the site of lesion. The most common etiology of Wallenberg syndrome being atherosclerotic occlusion of the arteries followed by secondary thrombosis. However, prothrombotic states rarely present as lateral medullary syndrome. Therefore, we report two cases of Wallenberg syndrome where patients were found to have hyperhomocysteinemia as a risk factor for the prothrombotic state.

  20. Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors

    Directory of Open Access Journals (Sweden)

    Lindor Noralane M

    2012-10-01

    Full Text Available Abstract Mutations in FLCN cause Birt-Hogg-Dubé syndrome, an autosomal dominant disorder notable for development of cutaneous fibrofolliculomas or trichodiscomas, a variety of renal tumors, and spontaneous pneumothorax due to cystic lung changes. We present a woman referred for genetic evaluation due to bilateral parotid gland tumors, who was subsequently diagnosed with Birt-Hogg-Dubé syndrome.

  1. Bartter syndrome Type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation

    NARCIS (Netherlands)

    Westland, R.; Hack, W.W.; van der Horst, H.J.; Uittenbogaard, L.B.; van Hagen, J.M.; van der Valk, P.; Kamsteeg, E.J.; Heuvel, L.P.W.J. van den; van Wijk, J.A.

    2012-01-01

    Bartter syndrome encompasses a variety of inheritable renal tubular transport disorders characterized by hypokalemia and hypochloremic metabolic alkalosis. Bartter syndrome Type III is caused by genetic alterations in the chloride channel kidney B (CLCNKB) gene and often presents in the first 2

  2. Unusual presentation of Sturge-Weber syndrome: Progressive megalencephaly with bilateral cutaneous and cortical involvement

    Directory of Open Access Journals (Sweden)

    Kundan Mittal

    2014-01-01

    Full Text Available The Sturge Weber syndrome is characterized by developmental delay, seizures in infancy, unilateral cutaneous lesions with ipsilateral leptomeningeal enhancement. We report an unusual presentation of Sturge Weber syndrome with bilateral port wine nevus on the trunk and face along with bilateral cortical involvement in a developmentally normal child with progressive megalencephaly.

  3. PEUTZ JEGHERS SYNDROME PRESENTING WITH ACUTE INTESTINAL OBSTRUCTION: A RARE CASE REPORT WITH REVIEW OF LITERATURES

    Directory of Open Access Journals (Sweden)

    P. K. Hota

    2015-08-01

    Full Text Available Background: Peutz-Jeghers syndrome is a rare genetic disorder presenting in young age with mucocutaneous pigmentation and hamartomatous polyposis. Method: We report a case of Peutz-Jeghers syndrome in a 16 year old boy presenting with acute intestinal obstruction. Results: Imaging studies revealed intussusception. He had mucocutaneous pigmentation and multiple hamartomatous polyps which were diagnosed histologically. The unusual presentation of the case and its successful management has prompted us to report the case with literature review.

  4. Dermatopatías bacterianas de importancia en medicina equina.

    Directory of Open Access Journals (Sweden)

    Christian Tuemmers

    2016-12-01

    Full Text Available La dermatología representa una parte importante en la práctica equina. Las dermatopatías bacterianas comúnmente son causadas por patógenos oportunistas que son parte de la flora normal de la piel, que ingresan mediante disrupciones de la piel provocando el desarrollo de enfermedades; existen también patógenos que pueden provocar enfermedad sistémica que tienen manifestaciones cutáneas. Para el diagnóstico de las patologías cutáneas provocadas por bacterias es necesario realizar el examen clínico general y luego hacer un examen específico de la piel describiendo las características de la piel y las lesiones que se presentan. Hay numerosos métodos complementarios que ayudan a la identificación del agente etiológico; con el fin de instaurar el tratamiento adecuado. En nuestro país se han realizado pocos reportes y publicaciones respecto de las patologías cutáneas que afectan a los equinos, a su vez también es poca la variedad de antimicrobianos de uso en la clínica equina lo que impide el correcto tratamiento de las diferentes dermatopatías.

  5. Herlyn-Werner-Wunderlich syndrome with pregnancy: a rare presentation.

    Science.gov (United States)

    Rana, Ritu; Pasrija, Shika; Puri, Manju

    2008-09-01

    Müllerian duct anomalies are infrequently encountered clinical problems and often present with difficulty in diagnosis. A high level of suspicion is the key to diagnosis, which is usually made soon after menarche. However, this is the first reported case of uterus didelphys with obstructed hemivagina and pyocolpos with ipsilateral renal agenesis in which the diagnosis was delayed until pregnancy.

  6. Orbital Inflammation as a Presenting Sign for CREST Syndrome.

    Science.gov (United States)

    Hamed-Azzam, Shirin W; D'Cruz, David P; Verity, David H

    2017-09-27

    A 61-year-old male was referred with a week's history of a painful and swollen left eye. Examination revealed normal visual acuities, left proptosis and global restriction of ocular ductions, and subretinal fluid at the macula. CT imaging confirmed thickening of the posterior scleral coat, with an associated choroidal effusion. Serology revealed positive antinuclear antibodies with a centromere staining pattern; subsequent rheumatology review revealed extensive telangiectasia with digital ulceration in both hands, and a diagnosis of limited cutaneous systemic sclerosis was made. Orbital inflammatory disease is often the initial presentation of systemic diseases such as sarcoidosis, granulomatosis with polyangiitis, and IgG4 disease. Limited cutaneous systemic sclerosis is rarely encountered in the context of orbital inflammation, but is a further systemic association, reminding the clinician of the diagnostic importance of peripheral symptoms and serological markers in patients presenting with orbital inflammation and scleritis.

  7. Amiodarone-Induced Hypothyroidism Presenting as Cardiorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Evan L. Hardegree

    2012-01-01

    Full Text Available Here we present the case of a 90-year-old man with chronic heart and renal failure who was admitted with what appeared to be a simple heart failure exacerbation. However, further investigation led to the diagnosis of profound amiodarone-induced hypothyroidism as the cause of his acute decompensation, highlighting the importance of a broad differential diagnosis and thorough investigation.

  8. Severe psychomotor delay in a severe presentation of cat-eye syndrome.

    Science.gov (United States)

    Jedraszak, Guillaume; Receveur, Aline; Andrieux, Joris; Mathieu-Dramard, Michèle; Copin, Henri; Morin, Gilles

    2015-01-01

    Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability. Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, resulting in partial tetrasomy of 22p-22q11.21. There are two types of small supernumerary marker chromosome, depending on the breakpoint site. In a very small proportion of cases, other cytogenetic anomalies are reportedly associated with the cat-eye syndrome phenotype. Here, we report a patient with cat-eye syndrome caused by a type 1 small supernumerary marker chromosome. The phenotype was atypical and included a severe developmental delay. The use of array comparative genomic hybridization ruled out the involvement of another chromosomal imbalance in the neurological phenotype. In the literature, only a few patients with cat-eye syndrome present with a severe developmental delay, and all of the latter carried an atypical partial trisomy 22 or an uncharacterized small supernumerary marker chromosome. Hence, this is the first report of a severe neurological phenotype in cat-eye syndrome with a typical type 1 small supernumerary marker chromosome. Our observation clearly complicates prognostic assessment, particularly when cat-eye syndrome is diagnosed prenatally.

  9. Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome

    Directory of Open Access Journals (Sweden)

    Guillaume Jedraszak

    2015-01-01

    Full Text Available Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability. Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, resulting in partial tetrasomy of 22p-22q11.21. There are two types of small supernumerary marker chromosome, depending on the breakpoint site. In a very small proportion of cases, other cytogenetic anomalies are reportedly associated with the cat-eye syndrome phenotype. Here, we report a patient with cat-eye syndrome caused by a type 1 small supernumerary marker chromosome. The phenotype was atypical and included a severe developmental delay. The use of array comparative genomic hybridization ruled out the involvement of another chromosomal imbalance in the neurological phenotype. In the literature, only a few patients with cat-eye syndrome present with a severe developmental delay, and all of the latter carried an atypical partial trisomy 22 or an uncharacterized small supernumerary marker chromosome. Hence, this is the first report of a severe neurological phenotype in cat-eye syndrome with a typical type 1 small supernumerary marker chromosome. Our observation clearly complicates prognostic assessment, particularly when cat-eye syndrome is diagnosed prenatally.

  10. OHVIRA syndrome (obstructed hemivagina and ipsilateral renal anomaly) with uterus didelphys, an unusual presentation.

    Science.gov (United States)

    Mandava, Anitha; Prabhakar, R R; Smitha, S

    2012-04-01

    Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA), or Herlyn-Werner-Wunderlich syndrome, is a rare Mullerian duct anomaly with uterus didelphys, unilateral obstructed hemivagina, and ipsilateral renal agenesis. Patients with this anomaly usually present after menarche with pelvic pain and/or a mass and rarely, in later years, with primary infertility. Strong suspicion and knowledge of this anomaly are essential for a precise diagnosis. A 14-year-old female presented with acute retention of urine and was diagnosed as a case of OHVIRA syndrome with uterus didelphys. Acute retention of urine as the initial clinical presentation has been rarely reported in this syndrome. She was treated with hemivaginal septal resection. OHVIRA syndrome should be considered among the differential diagnoses in young females with renal anomalies presenting with pelvic mass, symptoms of acute abdomen, and acute urinary retention. Copyright © 2012 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  11. 'Munchausen syndrome by proxy' presenting as battered child syndrome: a report of two cases.

    Science.gov (United States)

    Sugandhan, Selvendran; Gupta, Somesh; Khandpur, Sujay; Khanna, Neena; Mehta, Manju; Inna, Prashanth

    2010-06-01

    Child abuse is a major public health crisis and is on the rise. Dermatologists are frequently involved in its evaluation in differentiating abusive injuries from accidental injuries and in excluding pathological conditions that may mimic abuse. Battered child syndrome or physical abuse is not only a common form of child abuse but can also result from a rarer form of child abuse known as Munchausen syndrome by proxy. In this form of abuse, mother, who is the usual perpetrator, induces an illness or abuses the child for her own self-serving psychological needs. We report two cases of battered child syndrome. In both the cases, Psychiatric evaluation was performed on both parents. Observation through one-way mirror was done with the mother and the child alone. Routine hematological and biochemical investigations were done. Diagnosis of Munchausen syndrome by proxy was firmly established in one case and was considered as a possibility in the other. A multidisciplinary team effort is essential in evaluating such cases, and dermatologists should be aware and be well informed about this condition that can be potentially lethal but easily overlooked.

  12. Klippel-Trénaunay Syndrome with Intracranial Arteriovenous Malformation: A Rare Presentation

    Directory of Open Access Journals (Sweden)

    Mahniya F. Sadiq

    2014-01-01

    Full Text Available Klippel-Trénaunay syndrome (KTS is a rare vascular congenital anomaly affecting less than 200,000 people in the United States. Vascular malformations associated with KTS tend to affect slow flow systems: venous, capillary, and lymphatic systems. The nature of the syndrome leads to a higher risk for the development of arteriovenous malformations. Our case presentation describes a patient with KTS and an associated rare presentation of intraventricular arteriovenous malformation (AVM.

  13. Short bowel syndrome presenting with re-feeding syndrome in a Han Chinese patient: a case report

    Directory of Open Access Journals (Sweden)

    Xie Ying

    2012-05-01

    Full Text Available Abstract Introduction Re-feeding syndrome is common in patients with long-term starvation. To the best of our knowledge this case is the first to report a patient with short bowel syndrome developing re-feeding syndrome 12 years after the bowel resection. Case presentation A 33-year-old Chinese Han man underwent small bowel resection leaving only 40 cm of bowel, without an ileocecal valve, 12 years previously. At that time he was weaned from total parenteral nutrition and had a normal diet. He later developed features of severe malnutrition, and when parenteral nutrition was given, he developed re-feeding syndrome. Conclusion Although re-feeding syndrome is a common complication in patients with any kind of nutritional support, and known to us for many years, high risk patients still need more attention and monitoring. Re-feeding syndrome in this case was not only a macronutrients deficiency but also a micronutrient deficient, and prompt supplement therapy and organ function support proved to be successful.

  14. Sotos syndrome: An unusual presentation with intrauterine growth restriction, generalized lymphedema, and intention tremor.

    Science.gov (United States)

    McClelland, Jessie; Burgess, Bronwyn; Crock, Patricia; Goel, Himanshu

    2016-04-01

    Sotos syndrome is a childhood overgrowth syndrome characterized clinically by a distinctive facial gestalt, advanced bone age, childhood overgrowth, and non-progressive developmental delay; and genetically by haploinsufficiency of the Nuclear receptor binding SET Domain 1 (NSD1) gene. Generalized lymphedema has not previously been associated with Sotos syndrome. Generalized lymphedema has been associated with mutations in several genes including FLT4. This gene is involved in the regulation of VEGFR3, a key governor of lymphatic-endothelial cell development and function. We report on a 28-year-old Caucasian female with a de novo NSD1 intragenic mutation, c.5841_5848dup: p.Leu1950Serfs*22, who presented with characteristic clinical features of Sotos syndrome. Unusually this case includes atypical features of intrauterine growth retardation and post-pubertal onset of primary lymphedema. To our knowledge, no link between Sotos syndrome and generalized lymphedema has previously been described in the literature. We propose a mechanism by which disruptions in NSD1 gene may lead to generalized lymphedema. Aberrations of the mitogen-activated protein kinase (MAPK)/extracellular signal-regulated kinase (ERK)-signaling pathway has been identified in both Sotos syndrome and lymphedema. This finding extends the known phenotype of Sotos syndrome through the inclusion of lymphedema. This case also indicates that presence of low birth weight does not exclude the possibility of Sotos syndrome. © 2016 Wiley Periodicals, Inc.

  15. Two case presentations of profound labial edema as a presenting symptom of hypermobility-type Ehlers-Danlos syndrome.

    Science.gov (United States)

    Krapf, Jill M; Goldstein, Andrew T

    2013-09-01

    Hypermobility-type Ehlers-Danlos syndrome (EDS), an often-missed diagnosis with the potential for serious sequelae, may have a variety of uncommon presentations, some of which may be gynecologic. The aim of this case report is to present two cases of profound labial edema associated with intercourse as a presenting symptom of hypermobility-type EDS. A 25-year-old female presented with severe labia minora swelling and bladder pressure associated with intercourse, in addition to persistent genital arousal. History revealed easy bruising, joint pain, and family history of aneurysm. A 22-year-old female presented with intermittent profound labial swelling for 6 years, associated with sensitivity and pain with intercourse. The patient has a history of joint pain and easy bruising, as well a sister with joint hypermobility and unexplained lymphedema. The presenting symptom of profound labial edema led to the diagnosis of hypermobility-type EDS. Patients with hypermobility syndrome exhibit an increased ratio of type III collagen to type I collagen, causing tissue laxity and venous insufficiency. Abnormal collagen may lead to gynecologic manifestations, including unexplained profound labial edema, pelvic organ prolapse in the absence of risk factors, and possibly persistent genital arousal. This case report highlights the need for further research to determine incidence of labial edema in hypermobility-type EDS and to further elucidate a potential correlation between profound labial edema and collagen disorders. © 2013 International Society for Sexual Medicine.

  16. Metastatic gastric cancer presenting with shoulder-hand syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Massarotti Marco

    2008-07-01

    Full Text Available Abstract Introduction Shoulder-hand syndrome is a relatively rare clinical entity classified as a complex regional pain syndrome type 1 and consisting essentially of a painful 'frozen shoulder' with disability, swelling, vasomotor or dystrophic changes in the homolateral hand. The pathophysiology is not completely clear but a predominant 'sympathetic' factor affecting the neural and vascular supply to the affected parts seems to be involved. Shoulder-hand syndrome has been related to many surgical, orthopedic, neurological and medical conditions; it is more often seen after myocardial infarction, hemiplegia and painful conditions of neck and shoulder, such as trauma, tumors, cervical discogenic or intraforaminal diseases and shoulder calcific tendinopathy, but has also been associated with herpetic infections, brain and lung tumors, thoracoplasty and drugs including phenobarbitone and isoniazid. The diagnosis of shoulder-hand syndrome is primarily clinical, but imaging studies, particularly bone scintigraphy, may be useful to exclude other disorders. Case presentation We report the case of a 67-year-old woman who presented with shoulder-hand syndrome as the initial manifestation of gastric cancer which had metastasized to bone. Conclusion Wider investigations are advisable in patients with atypical shoulder-hand syndrome. To the best of the authors' knowledge this is the first case of shoulder-hand syndrome associated with metastatic gastric cancer.

  17. Omenn Syndrome Presenting with Striking Erythroderma and Extreme Lymphocytosis in a Newborn.

    Science.gov (United States)

    Zafar, Rabia; Ver Heul, Aaron; Beigelman, Avraham; Bednarski, Jeffrey J; Bayliss, Susan J; Dehner, Louis P; Rosman, Ilana S; Coughlin, Carrie C

    2017-01-01

    Omenn syndrome is an autosomal recessive form of "leaky" severe combined immune deficiency resulting in distinct phenotypic features. The patient described herein had an atypical presentation of Omenn syndrome, with conspicuous erythroderma and extreme lymphocytosis at birth, in contrast to the typical evolution of rash seen during the first few weeks of life. In addition, the skin findings were secondary to infiltration of CD8+ (cytotoxic) T-cells in contrast to the CD4+ (helper) T-cells typically seen, which broadens the Omenn syndrome phenotype. © 2016 Wiley Periodicals, Inc.

  18. "Person in the barrel" syndrome: Unusual heralding presentation of squamous cell carcinoma of the lung

    Directory of Open Access Journals (Sweden)

    Rajesh Verma

    2016-01-01

    Full Text Available Paraneoplastic neurological syndromes (PNS are rare and relatively unusual in day to day clinical practice. Occasionally, PNS may be the heralding manifestation of the malignancy. Paraneoplastic syndromes are most commonly associated with small cell lung carcinoma and are rarely seen with non small cell lung carcinoma. In this case, we report a non-smoker, middle aged lady, who presented with "person in the barrel" syndrome due to myelo radiculoplexopathy as the first clinical manifestation of squamous cell carcinoma of the lung.

  19. Hydrophobia as a rare presentation of Cotard's syndrome: a case report.

    Science.gov (United States)

    Nejad, A G

    2002-08-01

    To discuss a case of Cotard's syndrome in a 65-year-old male patient who refused to eat and drink. A single case is presented. The patient was especially sensitive to water and showed panic reactions when he was offered a glass of water. These symptoms began when he deluded himself to believe that his stomach shrunk. Diagnosis was major depressive disorder with psychotic feature based on DSM-IV. Hydrophobia as a symptom of Cotard's syndrome was not reported before. This symptom is often known as evidence of rabies but may be seen in Cotard's syndrome.

  20. Takotsubo syndrome presenting as syncope in a patient with permanent pacemaker.

    Science.gov (United States)

    Banavalikar, Bharatraj; Sivasubramonian, Sivasankaran; Namboodiri, Narayanan; Nair, Krishna Kumar Mohanan; Behera, Dibya Ranjan; Valaparambil, Ajitkumar

    Takotsubo syndrome is an acute reversible heart failure syndrome triggered by physical or emotional stress, especially in postmenopausal women. Herein, we describe a case of a 31-year-old pacemaker dependent lady who presented with syncope after she was bereaved of her father. Electrocardiogram at admission revealed ventricular paced rhythm at 60/min, prolonged QT interval and frequent runs of torsades de pointes. Transthoracic echocardiogram and left ventriculogram revealed findings typical of Takotsubo syndrome. QT prolongation and torsade de pointes in the context of fixed-rate ventricular pacing imply direct catecholamine toxicity on the ventricular myocardium independent of heart rate. Copyright © 2017 Elsevier Inc. All rights reserved.

  1. Development of a Partial Balint's Syndrome in a Congenitally Deaf Patient Presenting as Pseudo-Aphasia

    OpenAIRE

    Drane, Daniel L.; Lee, Gregory P.; Huthwaite, Justin S.; David L. Tirschwell; Baudin, Brett C.; Jurado, Miguel; Ghodke, Basavaraj; Marchman, Holmes B.

    2008-01-01

    We present a 56 year-old, right-handed, congenitally deaf, female who exhibited a partial Balint's syndrome accompanied by positive visual phenomena restricted to her lower right visual quadrant (e.g., color band, transient unformed visual hallucinations). Balint's syndrome is characterized by a triad of visuo-ocular symptoms that typically occur following bilateral parieto-occipital lobe lesions. These symptoms include the inability to perceive simultaneous events in one's visual field (simu...

  2. A rare case of 3C disease: Ritscher–Schinzel syndrome presenting with recurrent talipes equinovarus

    Science.gov (United States)

    Konya, Mehmet Nuri; Elmas, Muhsin; Erginoğlu, Sadık Emre; Yeşil, Murat

    2014-01-01

    INTRODUCTION Club foot (CF) is characterized by multiple deformities such as varus, adductus and internal rotation of the forefoot. It is well-known and a frequent congenital disorder. CF can concurrently be seen with several diseases but it can rarely manifest as a component of any other syndrome. Ritscher–Schinzel syndrome, or cranio-cerebello-cardiac syndrome, is rarely seen and has autosomal recessive inheritance. It is characterized by cranio-facial, cerebellar and cardiac abnormalities. We report a case diagnosed as Ritscher–Schinzel syndrome concurrent with persistent CF. PRESENTATION OF CASE A two-year-old boy with persistent CF and concurrent congenital hip dysplasia. Despite successful serial casting and subsequent achilloplasty a clinical relapse was observed in our patient. After a detailed phenotypic evaluation, genetical tests and imaging technique the patient was diagnosed 3C Ritscher–Schinzel syndrome. DISCUSSION A comprehensive literature review did not show any reports about concurrent hip dysplasia and clubfoot in Ritscher–Schinzel syndrome. We report that CF may be associated with rare genetical abnormalities. CONCLUSION With this report we would like to raise awareness about the possible association of persistent CF with this rare genetical disorder, Ritscher–Schinzel syndrome. It should be included in differential diagnosis of patients with persistent CF. PMID:25434475

  3. Intramedullary spinal cord metastasis from colonic carcinoma presenting as Brown-Sequard syndrome: a case report

    LENUS (Irish Health Repository)

    Kaballo, Mohammed A

    2011-08-02

    Abstract Introduction Intramedullary spinal cord metastasis is very rare. The majority are discovered incidentally during autopsy. Most symptomatic patients present with rapidly progressive neurological deficits and require immediate examination. Few patients demonstrate features of Brown-Séquard syndrome. Radiotherapy is the gold-standard of therapy for Intramedullary spinal cord metastasis. The overall prognosis is poor and the mortality rate is very high. We present what is, to the best of our knowledge, the first case of Intramedullary spinal cord metastasis of colorectal carcinoma presenting as Brown-Séquard syndrome. Case presentation We present the case of a 71-year-old Caucasian man with colonic adenocarcinoma who developed Intramedullary spinal cord metastasis and showed features of Brown-Séquard syndrome, which is an uncommon presentation of Intramedullary spinal cord metastasis. Conclusion This patient had an Intramedullary spinal cord metastasis, a rare form of metastatic disease, secondary to colonic carcinoma. The metastasis manifested clinically as Brown-Séquard syndrome, itself a very uncommon condition. This syndrome is rarely caused by intramedullary tumors. This unique case has particular interest in medicine, especially for the specialties of medical, surgical and radiation oncology. We hope that it will add more information to the literature about these entities.

  4. A CASE REPORT OF RARE PRESENTATION OF MARFAN’S SYNDROME

    Directory of Open Access Journals (Sweden)

    Pavan Kumar

    2014-12-01

    Full Text Available Marfan syndrome is a heritable condition that affects the connective tissues of Human body. It can affect any body systems including the skeleton, eyes, heart and blood vessels, nervous system, skin, and lungs. Estimates indicate that approximately 1 in 3,000 to 5,000 individuals have Marfan syndrome and most individuals with Marfan’s syndrome have another affected family member which are due to new genetic mutations. We present to you an interesting rare case which reported to our hospital few months back with features of Marfan’s syndrome. Without cardiac or respiratory involvement and associated Mutism and Hypogonadism. In the family no other member was affected.

  5. [Acute anterior myocardial infarction as presenting feature of antiphospholipid syndrome related lupus arthritis].

    Science.gov (United States)

    Capilla-Geay, E; Poyet, R; Brocq, F X; Pons, F; Kerebel, S; Foucault, G; Jego, C; Cellarier, G R

    2016-05-01

    Antiphospholipid syndrome is an autoimmune disorder causing venous and arterial thrombosis. Acute coronary complications are rare but potentially dramatic. We report a 39-year-old woman who presented with an acute anterior myocardial infarction after intravenous corticosteroids as part of the treatment of lupus arthritis and revealing antiphospholipid syndrome. Emergency coronary angiography was performed with drug-eluting stent angioplasty despite the need for anticoagulation and dual antiplatelet therapy. Antiplatelet and anticoagulant therapy management is pivotal in patients with antiphospholipid syndrome and acute coronary syndrome to prevent thrombosis recurrence. Copyright © 2015 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  6. [Thermoesthesia-and-algesthesia status in the dermatomes of cauda equina roots in patients with lumbar spine osteochondrosis].

    Science.gov (United States)

    Shchurova, E N; Tropina, E Iu

    2012-01-01

    Thermoesthesia-and-algesthesia disorders have been registered in the dermatomes of cauda equina roots of patients with lumbar spine osteochondrosis in all the cases. Negative changes in the sensitivity of this type are manifested themselves as follows: 1) 2-8-degree increases of thresholds; 2) 3-6-degree decreases of thresholds; 3) absence of thermal sense. In the presence of reflex syndromes (lumbalgia and lumbar ischialgia) the disorders in L4, L5, S1 dermatomes have been determined to the greatest degree. Thermoesthesia-and-algesthesia disorders are more pronounced in patients with the radicular syndrome than in those with the reflex syndromes. The most improvement ofthermoesthesia-and-algesthesia values is observed in L5 dermatome of patients with lumbalgia and lumbar ischialgia after complex conservative therapy. The treatment performed does not result in significant thermoesthesia-and-algesthesia improvement for the limb with radiculopathy events and in the dermatome of the root compressed in patients with the radicular syndrome. Positive changes in contralateral limb are more pronounced.

  7. AN UNUSUAL CASE OF HERLYN WERNER WUNDERLICH SYNDROME PRESENTING DURING PREGNANCY: A CASE REPORT

    OpenAIRE

    Priyanka Priyadarshini; Deb Kumar; Chang Hom; Dhaval

    2015-01-01

    INTRODUCTION: Herlyn - Werner - Wunderlich syndrome (HWWS), characterized by uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis, is a rare combined Mullerian and mesonephric duct anomaly. It usually presents after menarche with remittent pelvic pain, dysmenorrhoea or palpable pelvic mass due to hematocolpos. Its presentation during adulthood is rare , (1) and in pregnancy is even rarer . (2) It is one of the causes of infert...

  8. Intracranial hypertension presenting with severe visual failure, without concurrent headache, in a child with nephrotic syndrome.

    Science.gov (United States)

    Barnett, Madeleine; Sinha, Manish D; Morrison, Danny; Lim, Ming

    2013-10-10

    Idiopathic intracranial hypertension is a condition typically characterised by headache, normal level of consciousness, papilloedema and raised cerebrospinal fluid pressure. Children often present with visual loss and atypical features of raised pressure, posing a diagnostic and management challenge. A range of renal disorders can predispose to developing this raised intracranial pressure syndrome. We present a case of severe visual failure in a child with nephrotic syndrome, with no headache when elevated pressure was proven. In nephrotic syndrome, visual failure related to elevated intracranial pressures without concurrent headache symptoms has not been reported previously. We discuss a 5-year-old Caucasian girl with steroid sensitive nephrotic syndrome who went on to become a late non-responder and presented with intracranial hypertension. Following initial response to steroids, she had a relapse of her nephrotic syndrome; her proteinuria did not resolve on steroid treatment, requiring addition of cyclosporine therapy to manage her nephrotic syndrome. Three months following this, she presented with visual failure in the right eye with bilateral central scotoma and papilloedema. At the time of presentation of visual impairment, she was otherwise well, with no symptoms of a raised intracranial pressure syndrome or associated systemic illness. Medical management was initiated following confirmation of a raised intracranial pressure. Her intracranial pressure remained elevated requiring serial therapeutic lumbar punctures before some improvement in visual acuity was observed. Later in the clinical course, she presented with worsening of her visual impairment with further deterioration of the vision in the left eye, again associated with elevated intracranial pressure. An urgent surgical cerebrospinal fluid diversion procedure was performed. At review, three years after presentation our patient has severe visual impairment with no perception of light in her right eye

  9. Twin-twin Transfusion Syndrome with a Single Ectopic Kidney in a Twin Donor. Case Presentation

    OpenAIRE

    Gerardo Rogelio Robaina Castellanos; Solangel de la Caridad Riesgo Rodríguez; Esther María Tristá Ricardo

    2016-01-01

    Twin-twin Transfusion Syndrome presents more frequently in diamniotic monochromic twins. In advanced stages and without prenatal intervention, is associated to high rates of peri natal mortality and neurological sequel in the survivors. It is presented a case of a pair of twins with severe depression at birth in which it was diagnosed a Twin-twin Transfusion Syndrome, later confirmed with the presence of anemia in the donor twin and polycythemia in the receptor twin. Both twins had an unfavou...

  10. OHVIRA syndrome presenting with acute abdomen: a case report and review of the literature.

    Science.gov (United States)

    Gungor Ugurlucan, Funda; Bastu, Ercan; Gulsen, Gokce; Kurek Eken, Meryem; Akhan, Suleyman Engin

    2014-01-01

    Uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) or Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital urogenital anomaly. A 13-year-old female presented with acute abdominal pain and dysmenorrhea. Ultrasonography and magnetic resonance imaging showed uterus didelphys, hematometrocolpos, obstructed hemivagina, and right renal agenesis. Hemivaginal septal resection and anastomosis between the obstructed hemivagina and the normal vagina was tried, but it was not possible. Unilateral hysterectomy was performed. HWW syndrome may present with acute abdomen and is usually treated with vaginal septum resection and drainage of the hematometrocolpos. Copyright © 2014 Elsevier Inc. All rights reserved.

  11. Small cell carcinoma of prostate presenting with Cushing′s syndrome

    Directory of Open Access Journals (Sweden)

    Selahattin Çaliskan

    2015-01-01

    Full Text Available Small cell carcinoma of prostate (SCPCa was initially described by Wenk et al. in 1977. SCPCa is a very rare cancer that accounts for only 0.5-2% of all prostate carcinomas. Although, this pathology is usually accompanied with prostate adenocarcinomas, there are a few hypotheses about the origin of SCPCa. Poorly differentiated acinar adenocarcinoma must be distinguished from SCPCa in histopathological examination. These patients may present with different paraneoplastic syndromes. Early diagnosis is very important because of the aggressive tumor behavior. Here, we report a patient who presented with Cushing syndrome and thereafter diagnosed with SCPCa.

  12. Diffuse Cystic Lung Disease as the Presenting Manifestation of Sjögren Syndrome.

    Science.gov (United States)

    Gupta, Nishant; Wikenheiser-Brokamp, Kathryn A; Fischer, Aryeh; McCormack, Francis X

    2016-03-01

    Interstitial lung diseases, especially lymphoproliferative disorders such as follicular bronchiolitis and lymphoid interstitial pneumonia, are commonly seen in association with Sjögren syndrome. Although the predominant computed tomographic (CT) findings in patients with lymphoid interstitial pneumonia/follicular bronchiolitis include poorly defined centrilobular nodules and ground-glass attenuation, cystic changes can be seen in approximately two-thirds of these patients. The objective of this study was to define the clinical, radiological, and histopathological features of cyst-predominant lymphoid interstitial pneumonia/follicular bronchiolitis in patients with Sjögren syndrome. We present four patients who were referred to our institution with diffuse cystic changes on chest CT imaging. All four had a presumptive diagnosis of lymphangioleiomyomatosis but were subsequently found to have Sjögren syndrome. The diagnosis was established based on the clinical symptoms of xerostomia and xerophthalmia along with serologic detection of antinuclear antibodies, rheumatoid factor, anti-Sjögren's syndrome-related antigen A (SSA)/Ro antibodies, and anti-Sjögren's syndrome-related antigen B (SSB)/La antibodies. The cystic pattern associated with Sjögren syndrome had a characteristic appearance on chest CT images. Typical features included a wide variation in cyst size, internal structure within cysts, geographic simplification of parenchymal architecture producing a "dissolving lung appearance," perivascular and often basilar-predominant distribution, and frequent association with ground-glass opacities and nodules. In a compatible clinical context, we submit that these findings can be sufficiently distinctive to obviate the need for lung biopsy, even in the absence of confirmatory serological studies or lip biopsy. Clinicians should consider occult Sjögren syndrome in the differential diagnosis of patients presenting with idiopathic diffuse cystic lung disease.

  13. A Case of Goldenhar Syndrome Associated with a New Retinal Presentation: Exudative Vitelliform Maculopathy.

    Science.gov (United States)

    Bruè, Claudia; Mariotti, Cesare; Celani, Silvia; Rossiello, Ilaria; Giovannini, Alfonso

    2015-01-01

    Goldenhar syndrome is a rare clinical disturbance with a wide range of clinical manifestations. We report on a 6-year-old male with peculiar retinal presentation of Goldenhar syndrome. The patient was referred to Ophthalmology for central scotoma in the left eye, where visual acuity was 20/100. Fundus examination was unremarkable, except for yellowish material in the central macula. SD-OCT revealed interruption of the external limiting membrane and inner and outer segment junctions, with disorganized material in the vitelliform space and subretinal fluid. Six months later, fundus and SD-OCT examinations were unchanged without treatment, but visual acuity in the left eye had improved to 20/50. Five years later, he had similar clinical manifestations in the right eye. He was started on systemic steroids. After 15 days, his visual acuity improved to 20/20 and subretinal fluid and yellowish material in the vitelliform space disappeared. Goldenhar syndrome has variable presentation, including vitelliform maculopathy.

  14. Muscle Atrophy at Presentation of Cubital Tunnel Syndrome: Demographics and Duration of Symptoms.

    Science.gov (United States)

    Drake, Matthew L; Hensley, Dana T; Chen, Wei C; Taylor, Kenneth F

    2017-01-01

    Background: The purpose of this study is to describe the demographics and duration of symptoms of patients with cubital tunnel syndrome who present with muscle atrophy. Methods: We identified 146 patients who presented to the hand surgery clinic at a single institution over a 5-year period with an initial diagnosis of cubital tunnel syndrome based on history and physical examination. Medical records were retrospectively reviewed to determine if there was a difference in demographic data, physical examination findings, and duration of symptoms in patients who presented with muscle atrophy from those with sensory complaints alone. Results: A total of 17/146 (11.6%) of patients presented with muscle atrophy, all of which were men. In all, 17.2% of men presented with atrophy. Age by itself was not a predictor of presentation with atrophy; however, younger patients with atrophy presented with significantly shorter duration of symptoms. Patients under the age of 29 years presenting with muscle atrophy on average had symptoms for 2.4 months compared with 16.2 months of symptoms for those over 55 years of age. Conclusions: Men with cubital tunnel syndrome are more likely to present with muscle atrophy than women. Age is not necessarily a predictor of presentation with atrophy. There is a subset population of younger patients who presents with extremely short duration of symptoms that rapidly develops muscle atrophy.

  15. Nevoid basal cell carcinoma syndrome presenting with neck pits and café au lait patches.

    Science.gov (United States)

    Balasundram, Sathesh; Kovilpillai, Ferdinand Jesudian; Hopper, Colin

    2010-01-01

    A 10- year-old patient presented with a slow growing jaw swelling. The initial general examination did not reveal any significant findings. Conservative enucleation of the cyst confirmed it to be an odontogenic keratocyst. The patient remained asymptomatic for the following 2 years and subsequently presented cystic lesions in jaws with displaced teeth. These cysts were enucleated and were confirmed to be odontogenic keratocysts . The patient has been on regular follow up since then and subsequent scans have shown further occurrence of cysts in the jaws with displacement of the third molars. Clinical examination also revealed macrocephaly, fronto-parietal bossing, pitting on palmar and plantar surfaces, calcification of falx cerebri and splayed ribs, confirming the diagnosis of nevoid basal cell carcinoma syndrome. He also presented with a cafi au lait patch and skin pits on the neck. The family history was negative for features of nevoid basal cell carcinoma syndrome. Nevoid basal cell carcinoma syndrome is a condition that can cause significant morbidity if not detected early. Over the years this syndrome has presented with many other non specific phenotype presentation, of which the current finding may be one of This calls for meticulous assessment and examination of patients and a standardized protocol in screening and managing these patients that may facilitate a more beneficial outcome for the patient.

  16. Drug reaction with eosinophilia and systemic symptoms syndrome (DRESS) syndrome associated with azithromycin presenting like septic shock: a case report.

    Science.gov (United States)

    Sriratanaviriyakul, Narin; Nguyen, Lam-Phuong; Henderson, Mark C; Albertson, Timothy E

    2014-10-08

    Drug reaction with eosinophilia and systemic symptoms syndrome is a potentially life-threatening cutaneous hypersensitivity reaction characterized by extensive mucocutaneous eruption, fever, hematologic abnormalities including eosinophilia and/or atypical lymphocytosis, and extensive organ involvement. The drugs most often responsible for causing drug reaction with eosinophilia and systemic symptoms syndrome are anticonvulsants, antimicrobial agents and antipyretic or anti-inflammatory analgesics. Although azithromycin is widely prescribed in clinical practice, serious cutaneous reactions from this agent have been rarely described. We report the first adult case of drug reaction with eosinophilia and systemic symptoms syndrome associated with azithromycin. A 44-year-old previously healthy Caucasian man with history of tobacco use presented to his primary care physician with fever and productive cough. He was prescribed azithromycin, promethazine hydrochloride and dextromethorphan hydrobromide syrup. One week later, he developed a blistering erythematous rash over both hands, which over the next two weeks spread to involve nearly his entire body surface, sparing only his face. He was admitted to an outside hospital with signs of systemic inflammatory response syndrome and severe sepsis, presumably from a skin infection. Despite aggressive therapy he deteriorated, with worsening diffuse erythema, and was transferred to our institution. He developed multiple organ failure requiring ventilatory and hemodynamic support. Pertinent laboratory studies included a leukocytosis with a white blood cell count of 17.6 × 10(9)/L and 47% eosinophils. A skin biopsy showed evidence of spongiotic lichenoid dermatitis with eosinophils and neutrophils, compatible with a systemic drug-induced hypersensitivity reaction. Our patient was started on high-dose steroids and showed dramatic improvement within 48 hours. We report the first adult case of drug reaction with eosinophilia and

  17. Bloom syndrome does not always present with sun-sensitive facial erythema.

    Science.gov (United States)

    Bouman, Arjan; van Koningsbruggen, Silvana; Karakullukcu, M Bariş; Schreuder, Willem Hans; Lakeman, Phillis

    2017-10-19

    Bloom syndrome is an autosomal recessive condition characterized by severe pre- and postnatal growth deficiency, immunodeficiency, an increased risk for malignancies, craniofacial dysmorphisms, and "typical" erythematous sun-sensitive skin lesions of the face. This facial rash has a butterfly-shaped distribution around the nose and is usually observed for the first time during the early years of life. Though reported as being a main feature of Bloom syndrome, there seems to be phenotypic variability regarding this facial skin rash among patients. It has been previously reported that in some individuals with Bloom syndrome these sun-sensitive lesions are less prominent or even absent. In this report we describe a 36 year old woman with short stature, microcephaly, several dysmorphisms, congenital hypothyroidism and premature ovarian failure. She was diagnosed with nasopharyngeal carcinoma at 36 years of age, only a few months after her consultation at the department of Clinical Genetics. Whole Exome Sequencing demonstrated that she had Bloom syndrome caused by a compound heterozygous mutation in BLM (c.2207_2212delinsTAGATTC; p.(Tyr736Leufs*5) and c.3681del; p.(Lys1227Asnfs*52)). She did not have facial sun-sensitive erythematous rash during childhood nor adulthood. We conclude that Bloom syndrome does not always present with erythematous sun-sensitive skin lesions of the face. We would like to underline that phenotypic variation regarding this "hallmark" feature of Bloom syndrome exists. Being aware of this might prevent a delay in diagnosing this rare short-stature syndrome and, subsequently, its potential clinical implications. Copyright © 2017. Published by Elsevier Masson SAS.

  18. Late-onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome

    NARCIS (Netherlands)

    Van Hove, JLK; Wevers, RA; Van Cleemput, J; Moerman, P; Sciot, R; Matthijs, G; Schollen, E; de Jong, JGN; Carey, WF; Muller, [No Value; Nicholls, C; Perkins, K; Hopwood, JJ

    2003-01-01

    Sanfilippo A syndrome, mucopolysaccharidosis type IIIA, is caused by a deficiency of heparan sulphamidase activity, and usually presents in childhood with neurodegeneration leading to death in teenage years. Visceral symptoms are limited to coarsening and diarrhea. We now describe an adult patient

  19. An Atypical Presentation of Subacute Encephalopathy with Seizures in Chronic Alcoholism Syndrome

    OpenAIRE

    Kim, Tae-Kyoung; Jung, Eui Sung; Park, Jong-Moo; Kang, Kyusik; Lee, Woong-Woo; Lee, Jung-Ju

    2016-01-01

    Subacute encephalopathy with seizures in chronic alcoholism syndrome is a rare clinical manifestation in patients with chronic alcohol abuse. We report the case of a patient with chronic alcoholism who presented with partial nonconvulsive status epilepticus associated with a thalamic lesion.

  20. Persistent Hiccups—An Unusual Presentation of Bilateral Pheochromocytoma without Syndromic Association: A Case Report

    Directory of Open Access Journals (Sweden)

    Nitin Aherrao

    2012-01-01

    Full Text Available Pheochromocytoma is a rare catecholamine-producing tumor arising from chromaffin tissue in the adrenal medulla, occurring in less than 0.2 percent of patients with hypertension. The mean age at diagnosis is about 40 years. Pheochromocytomas are commonly inherited as features of multiple endocrine neoplasia type 2 or several other pheochromocytoma-associated syndromes and have variable clinical presentation. Among the presenting symptoms, episodes of palpitations, headaches, and profuse sweating are typical and constitute a classic triad. We report a case of a 17-year-old male patient with rare bilateral pheochromocytoma presenting with persistent hiccups for 4 months and blurring of vision for 1 week, later followed by hypertensive crisis. There was neither family history of pheochromocytoma nor any classic symptoms. Patient was diagnosed with bilateral pheochromocytoma without any syndromic association. But still this patient needs to be followed for future development of medullary carcinoma of thyroid because it could be an initial presentation of MEN 2A/2B/VHL syndromes. Our paper highlights the importance of maintaining a high level of suspicion for persistent hiccups and careful clinical screening for hypertension even in absence of associated syndromes of pheochromocytoma and classical symptoms to achieve prompt diagnosis and to avoid improper management.

  1. Immune reconstitution syndrome presenting as probable AIDS-related lymphoma: a case report

    DEFF Research Database (Denmark)

    Mortensen, Bo K; Nielsen, Susanne D; Christensen, Charlotte

    2011-01-01

    ABSTRACT: We report an unusual case of HIV-related immune reconstitution inflammatory syndrome, presenting as suspected AIDS-related lymphoma. Symptoms, initial investigations including fine-needle biopsy and 18F-FDG PET/CT scan were highly compatible with high grade AIDS-related lymphoma, howeve...

  2. Post-Ganglionic Horner’s Syndrome: An Unusual Presentation of Non-Hodgkin Lymphoma

    Directory of Open Access Journals (Sweden)

    Lucilene Silva Ruiz e Resende

    2012-02-01

    Full Text Available In this paper, we present the rare case of a patient with cervical lymphadenopathy diagnosed as a T-cell-rich B-cell non-Hodgkin lymphoma that manifested Horner’s syndrome due to a post-ganglionic sympathetic neuron lesion caused by the tumor.

  3. Carotid transient ischemic attacks presenting as limb-shaking syndrome: report of two cases

    Directory of Open Access Journals (Sweden)

    Kowacs Pedro A.

    2004-01-01

    Full Text Available Limb shaking syndrome (LSS is a rare presentation of transient ischemic attacks (TIAs, usually secondary to a critical carotid stenosis compromising intracranial circulation, first described 40 years ago. Two additional cases are described herein, aiming to add on to previous descriptions, and to warn physicians about this potentially harming and rather uncommon condition.

  4. "Klebsiella Pneumonia" Liver Abscess Syndrome: Case Presentation to a College Student Health Clinic

    Science.gov (United States)

    Woll, Christopher; Spotts, P. Hunter

    2016-01-01

    The authors describe a case of "Klebsiella pneumoniae" liver abscess (KPLA) in a student presenting to a university student health center. The authors also provide a review of KPLA and invasive "Klebsiella pneumoniae" liver abscess syndrome (IKPLAS), including epidemiology, common clinical manifestations, standard diagnostic…

  5. Immune reconstitution syndrome presenting as probable AIDS-related lymphoma: a case report

    DEFF Research Database (Denmark)

    Mortensen, Bo K; Nielsen, Susanne D; Christensen, Charlotte B

    2011-01-01

    ABSTRACT: We report an unusual case of HIV-related immune reconstitution inflammatory syndrome, presenting as suspected AIDS-related lymphoma. Symptoms, initial investigations including fine-needle biopsy and 18F-FDG PET/CT scan were highly compatible with high grade AIDS-related lymphoma, however...

  6. The savant syndrome: an extraordinary condition. A synopsis: past, present, future.

    Science.gov (United States)

    Treffert, Darold A

    2009-05-27

    Savant syndrome is a rare, but extraordinary, condition in which persons with serious mental disabilities, including autistic disorder, have some 'island of genius' which stands in marked, incongruous contrast to overall handicap. As many as one in 10 persons with autistic disorder have such remarkable abilities in varying degrees, although savant syndrome occurs in other developmental disabilities or in other types of central nervous system injury or disease as well. Whatever the particular savant skill, it is always linked to massive memory. This paper presents a brief review of the phenomenology of savant skills, the history of the concept and implications for education and future research.

  7. Glucose transporter 1 deficiency syndrome and hemiplegic migraines as a dominant presenting clinical feature.

    Science.gov (United States)

    Mohammad, Shekeeb S; Coman, David; Calvert, Sophie

    2014-12-01

    Glucose transporter 1 deficiency syndrome (OMIM 606777) is a treatable epileptic encephalopathy caused by mutations in the SLC2A1 gene (OMIM 138140) causing impaired glucose transport into the brain. The classical phenotype is associated with seizures, developmental delay, ataxia and spasticity; however, milder phenotypes are emerging. We describe an 8-year-old boy with glucose transporter 1 deficiency syndrome whose clinical presentation was dominated by hemiplegic migraines that resolved with institution of a modified Atkins diet. © 2014 The Authors. Journal of Paediatrics and Child Health © 2014 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  8. Acute central retinal artery occlusion presenting as CREST syndrome: a case report.

    Science.gov (United States)

    Raja, Muhammad Sa; Marshall, Tarnya; Burton, Ben Jl

    2009-01-05

    A 75 year old lady presented with acute central retinal artery occlusion and contralateral cotton wool spots. General physical examination and investigations led to a diagnosis of CREST syndrome; however, association of central retinal artery occlusion with CREST syndrome is not well known. While diabetes, systemic hypertension, carotid atherosclerosis and cardiac pathology are common causes of CRAO it is always important to rule out giant cell arteritis. This case highlights that inflammatory causes of central retinal artery occlusion other than giant cell arteritis should also be considered as a possibility to spare unnecessary use of excessive systemic corticosteroids.

  9. Small-cell carcinoma of the endometrium presenting as Cushing's syndrome.

    Science.gov (United States)

    Sato, Haruhiro; Kanai, Genta; Kajiwara, Hiroshi; Itoh, Johbu; Osamura, Robert Yoshiyuki

    2010-01-01

    Small-cell carcinoma (SCC) of neuroendocrine type is an uncommon tumor of the endometrium. No previous report has documented Cushing's syndrome due to ectopic ACTH production by SCC of the endometrium. We describe a 56-year-old Japanese woman with SCC of the endometrium and multiple lung metastases presenting as Cushing's syndrome. The patient was referred to our hospital because of general fatigue with facial and leg edema, and multiple nodular lesions in the bilateral lungs on chest X-ray examination. A physical examination revealed that the patient had moon face, buffalo hump, and truncal obesity. Endocrinological examinations confirmed ACTH-dependent Cushing's syndrome. Thoracic computed tomography imaging showed multiple nodular lesions in the bilateral lungs. Abdominal magnetic resonance imaging suggested a malignant tumor of the uterus. The patient received a lung tumor biopsy and surgical hysterectomy. The endometrial carcinoma was histologically a SCC admixed with endometrioid adenocarcinoma. The SCC of the endometrium showed immunoreactivity for pro-opiomelanocortin, ACTH, and vimentin, but not for thyroid transcription factor-1. The lung biopsy specimen had the same features. These findings indicated that the SCC originated from the endometrium, and the ectopic ACTH-producing tumor caused Cushing's syndrome. This study provides the evidence that SCC of endometrial origin was an ectopic ACTH-producing tumor causing Cushing's syndrome.

  10. Acute parietal lobe infarction presenting as Gerstmann's syndrome and cognitive decline mimicking senile dementia.

    Science.gov (United States)

    Chen, Tien-Yu; Chen, Chun-Yen; Yen, Che-Hung; Kuo, Shin-Chang; Yeh, Yi-Wei; Chang, Serena; Huang, San-Yuan

    2013-01-01

    Gerstmann's syndrome encompasses the tetrad of finger agnosia, agraphia, acalculia, and right-left confusion. An elderly man with a history of several cardiovascular diseases was initially brought to the psychiatric outpatient department by his family because of worsening of recent memory, executive function, and mixed anxious-depressive mood. Gerstmann's syndrome without obvious motor function impairment and dementia-like features could be observed at first. Emergent brain computed tomography scan revealed new left-middle cerebral artery infarction over the left posterior parietal lobe. This case reminds us that acute cerebral infarction involving the parietal lobe may present as Gerstmann's syndrome accompanied by cognitive decline mimicking dementia. As a result, emergent organic workups should be arranged, especially for elderly patients at high risk for cerebral vascular accident.

  11. Anterior opercular syndrome as a first presentation of herpes simplex encephalitis.

    Science.gov (United States)

    De Kleermaeker, Floriaan G C M; Bouwmans, Angela E P; Nicolai, Joost; Klinkenberg, Sylvia

    2014-04-01

    We report a 5-year-old girl who presented with fever, drooling, dysphagia, and anarthria. Moreover, voluntary facial movements were disturbed, but the emotional facial movements were completely normal. This clinical phenomenon is known as the anterior opercular syndrome. There was a positive polymerase chain reaction for herpes simplex in the cerebrospinal fluid. The diagnosis herpes simplex encephalitis was supported by both magnetic resonance images (MRI) as by electroencephalogram (EEG). Herpes simplex encephalitis is a rare, but severe, cause of the anterior opercular syndrome that demands treatment as soon as possible in order to prevent high morbidity or mortality. The phenomenon of autonomic-voluntary dissociation, associated with other clinical and radiologic findings related to an underlying neurologic disorder, alerts clinicians to the anterior opercular syndrome as a critical diagnostic observation with time-dependent therapeutic consequences.

  12. Coexistence of gilbert syndrome and hereditary spherocytosis in a child presenting with extreme jaundice.

    Science.gov (United States)

    Lee, Jae Hee; Moon, Kyung Rye

    2014-12-01

    Gilbert syndrome is the most common inherited disorder of bilirubin glucuronidation. It is characterized by intermittent episodes of jaundice in the absence of hepatocellular disease or hemolysis. Hereditary spherocytosis is the most common inherited hemolytic anemia and is characterized by spherical, osmotically fragile erythrocytes that are selectively trapped by the spleen. The patients have variable degrees of anemia, jaundice, and splenomegaly. Hereditary spherocytosis usually leads to mild-to-moderate elevation of serum bilirubin levels. Severe hyperbilirubinemia compared with the degree of hemolysis should be lead to suspicion of additional clinical conditions such as Gilbert syndrome or thalassemia. We present the case of a 12-year-old boy with extreme jaundice and nausea. The diagnosis of hereditary spherocytosis was confirmed by osmotic fragility test results and that of Gilbert syndrome by genetic analysis findings.

  13. Gilbert Syndrome with Concomitant Hereditary Spherocytosis Presenting with Moderate Unconjugated Hyperbilirubinemia.

    Science.gov (United States)

    Aiso, Mitsuhiko; Yagi, Minami; Tanaka, Atsushi; Miura, Kotaro; Miura, Ryo; Arizumi, Toshihiko; Takamori, Yoriyuki; Nakahara, Sayuri; Maruo, Yoshihiro; Takikawa, Hajime

    2017-01-01

    We experienced a case of a 19-year-old man with Gilbert syndrome with concomitant hereditary spherocytosis. The patient presented with moderate unconjugated hyperbilirubinemia, and inherited etiology was strongly suspected. The diagnosis of Gilbert syndrome was confirmed by the genetic analysis of the UGT1A1 gene, demonstrating UGT1A1*28 and compound heterozygote UGT1A1*6. In addition, since the laboratory findings and imaging studies revealed lysemia as well as gallstone and splenomegaly, a diagnosis of hereditary spherocytosis was made as a comorbidity. Both Gilbert syndrome and hereditary spherocytosis are hereditary diseases with a high frequency, and the hyperbilirubinemia may be exacerbated when these two diseases are concomitant.

  14. Dermatomyositis presenting as a paraneoplastic syndrome due to underlying breast cancer.

    Science.gov (United States)

    Sandhu, Nicole P; Zakaria, Shaheen; Degnim, Amy C; Boughey, Judy C

    2011-02-02

    Breast cancer most often presents as a palpable mass or with an abnormal mammogram. Much less commonly, breast cancer may present as a paraneoplastic syndrome. Dermatomyositis (DM) is a rare disease most often considered a complement-mediated idiopathic inflammatory myopathy manifested by classic skin findings and proximal muscle weakness. However, DM may also be due to a paraneoplastic syndrome associated with an underlying malignancy. The authors present a case report of a woman with presumed contact dermatitis who was diagnosed with breast cancer in the setting of progressive fatigue and muscle weakness. DM was subsequently diagnosed. Treatment of DM simultaneous with treatment of the breast cancer led to regression of DM. The diagnosis of DM in an adult should raise suspicion of an underlying malignancy. Breast cancer is a common disease that may rarely present with uncommon features that may divert attention from the underlying malignancy.

  15. Twin–Twin Transfusion Syndrome Presenting as Polyhydramnios in Both Fetuses Secondary to Spontaneous Microseptostomy

    OpenAIRE

    David N. Hackney; Nahla Khalek; Julie Moldenhauer; Tulin Ozcan

    2013-01-01

    The presence of polyhydramnios and oligohydramnios is pathognomonic for twin-twin transfusion syndrome (TTTS). However, polyhydramnios of both twins can exist in TTTS in the setting of a septostomy of the dividing membrane. In prior reported cases of dual polyhydramnios TTTS, the septostomy was identified through either ultrasound or fetoscopy thus helping to establish the diagnosis of TTTS with an unusual presentation. The presented case is a set of monochorionic, diamniotic twins who presen...

  16. A delayed presentation of bilateral leg compartment syndrome following non-stop dancing

    OpenAIRE

    Jefferies, James Gordon; Carter, Tom; White, Tim Oliver

    2015-01-01

    We present the case of a young man with a 48?h delayed presentation of bilateral lower limb acute compartment syndrome (ACS) affecting the anterior compartments following an extended period of dancing at a music festival. On making the diagnosis of ACS, the patient was immediately taken to theatre for fasciotomies and compartmental decompression. Repeat look fasciotomies revealed further necrosis to the muscles of the anterior compartments bilaterally and, effectively, all the muscle bellies ...

  17. Colchicine therapy in amyloidosis related with plasmacytic castleman disease presenting with nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Saime Paydas

    2015-01-01

    Full Text Available Castleman disease (CD is a neoplasm that presents with single or multiple lymphadenopathy. The disease is characterized by fever, weight loss, anemia, polyclonal hyperglobulinemia, splenomegaly, thrombocytosis and peripheral lymphadenopathy. In this paper, we report a young man with plasmacytic type CD and amyloid A (AA deposition who presented with intra-abdominal mass and nephrotic syndrome. He was successfully treated with colchicine following surgery.

  18. A fatal case of Churg-Strauss syndrome presenting with acute polyneuropathy mimicking Guillain-Barré syndrome.

    Science.gov (United States)

    De Toni Franceschini, Luisa; Amadio, Stefano; Scarlato, Marina; Fazio, Raffaella; Quattrini, Angelo; Dell'antonio, Giacomo; Comi, Giancarlo; Del Carro, Ubaldo

    2011-10-01

    A 64-year-old woman, with asthma and sinusal polyposis in her history, suddenly developed a painful polyneuropathy with diplopia. Nerve conduction studies, performed at the very onset of the neuropathy, could not definitely rule out a Guillain-Barré syndrome (GBS) and high-dose i.v. immunoglobulins were administered. Clinical and laboratory findings subsequently supported the diagnosis of Churg-Strauss syndrome; corticosteroid therapy was started and clinical stabilisation of neuropathy was apparently achieved. No indicators of unfavourable outcome were present at that time. Nevertheless, 30 days after the onset the patient acutely worsened with severe polyneuropathy relapse and fatal systemic diffusion to heart, kidney and mesenteric district, which a single cyclophosphamide pulse failed to control. This case highlights the possibility that a GBS-like onset of Churg-Strauss syndrome neuropathy should be regarded as a part of multiorgan, severe or even life-threatening vasculitic involvement, requiring the most aggressive treatments, regardless of the presence of recognised factors of poor outcome.

  19. Unusual presentation of a severely ill patient having severe fever with thrombocytopenia syndrome: a case report.

    Science.gov (United States)

    Kaneko, Masahiko; Maruta, Masaki; Shikata, Hisaharu; Asou, Kengo; Shinomiya, Hiroto; Suzuki, Tadaki; Hasegawa, Hideki; Shimojima, Masayuki; Saijo, Masayuki

    2017-02-03

    Severe fever with thrombocytopenia syndrome is an emerging infectious disease caused by a novel phlebovirus belonging to the family Bunyaviridate. Emergence of encephalitis/encephalopathy during severe fever with thrombocytopenia syndrome progression has been identified as a major risk factor associated with a poor prognosis. Here we report the case of a severely ill patient with severe fever with thrombocytopenia syndrome virus-associated encephalitis/encephalopathy characterized by a lesion of the splenium, which resolved later. A 56-year-old Japanese man presented with fever and diarrhea, followed by dysarthria. Diffusion-weighted magnetic resonance imaging demonstrated high signal intensity in the splenium of the corpus callosum. The severe fever with thrombocytopenia syndrome virus genome was detected in our patient's serum, and the clinical course was characterized by convulsion, stupor, and hemorrhagic manifestations, with disseminated intravascular coagulation and hemophagocytic lymphohistiocytosis. Supportive therapy not including administration of corticosteroids led to gradual improvement of the clinical and laboratory findings, and magnetic resonance imaging demonstrated resolution of the splenial lesion. The serum severe fever with thrombocytopenia syndrome viral copy number, which was determined with the quantitative reverse-transcription polymerase chain reaction, rapidly decreased despite the severe clinical course. Our patient's overall condition improved, allowing him to be eventually discharged. Patients with encephalitis/encephalopathy due to severe fever with thrombocytopenia syndrome virus infection may have a favorable outcome, even if they exhibit splenial lesions and a severe clinical course; monitoring the serum viral load may be of value for prediction of outcome and potentially enables the avoidance of corticosteroids to intentionally cause opportunistic infection.

  20. A rare presentation of atypical demyelination: tumefactive multiple sclerosis causing Gerstmann’s syndrome

    Science.gov (United States)

    2014-01-01

    Background Tumefactive demyelinating lesions are a rare manifestation of multiple sclerosis (MS). Differential diagnosis of such space occupying lesions may not be straightforward and sometimes necessitate brain biopsy. Impaired cognition is the second most common clinical manifestation of tumefactive MS; however complex cognitive syndromes are unusual. Case presentation We report the case of a 30 year old woman who presented with Gerstmann’s syndrome. MRI revealed a large heterogeneous contrast enhancing lesion in the left cerebral hemisphere. Intravenous corticosteroids did not stop disease progression. A tumour or cerebral lymphoma was suspected, however brain biopsy confirmed inflammatory demyelination. Following diagnosis of tumefactive MS treatment with natalizumab effectively suppressed disease activity. Conclusions The case highlights the need for clinicians, radiologists and surgeons to appreciate the heterogeneous presentation of tumefactive MS. Early brain biopsy facilitates rapid diagnosis and management. Treatment with natalizumab may be useful in cases of tumefactive demyelination where additional evidence supports a diagnosis of relapsing MS. PMID:24694183

  1. Avascular necrosis of femoral heads post-adrenal surgery for Cushing's syndrome: a rare presentation.

    LENUS (Irish Health Repository)

    2012-01-31

    Avascular necrosis (AVN) is a well-recognized complication of patients on high-dose steroids for a long time. Exogenous hypercortisolism is a well known cause of AVN and a number of cases have been reported. Cushing\\'s syndrome describes hypercortisolism of any cause endogenous or exogenous. A variety of traumatic and non-traumatic factors contribute to the aetiology of AVN although exogenous glucocorticoids administration and alcoholism are among the most common non-traumatic causes. AVN secondary to endogenous hypercortisolism is rare and very few case reports are available describing this complication. No literature is available on AVN presenting post-adrenal surgery. Here we present a young woman who presented with avascular necrosis of both hips 1 year after adrenalectomy for Cushing\\'s syndrome.

  2. Epilepsy as the first presentation of arterial tortuosity syndrome in a young girl: a case report.

    Science.gov (United States)

    Chen, Sheng; Hong, Yuan; Sherchan, Prativa; Zhang, Jian-Min

    2014-01-01

    Arterial tortuosity syndrome (ATS) is an extremely rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of all major arteries. We report a clinical case of a girl with this rare condition, who initially presented with epilepsy. DSA or MRA revealed a severe arterial tortuosity. EEG showed epileptiform discharge in right frontotemporal hemisphere. Here, we report the first case of ATS presenting with epilepsy. We discussed the possible clinical implications of this rare clinical presentation. Moreover, we suggest that some patients presenting with epilepsy might need serious cerebral vascular evaluation and ATS needs to be considered in the differential diagnosis.

  3. The effect of oil pollution on the reproduction and feeding behaviour of the sea anemone Actinia equina

    Energy Technology Data Exchange (ETDEWEB)

    Ormond, R.F.G.; Caldwell, S.

    1982-04-01

    The effects of oil pollution on the sea anemone Actinia equina were investigated. Chronic pollution with 2.5 ml.l/sup -1/ crude oil resulted, for about seven weeks, in ejection of increased numbers of the young which are normally brooded within the gastric cavity. Subsequently the numbers of surviving young being produced fell to zero, and the ovaries were found to be regressed and lacking ova. The anemones were also more frequently observed with tentacles expanded and mouth open, but the response to food offered to the tentacles was slow or absent. In separate tests it was found that crude oil presented on filter paper to the anemones could act as a feeding inducer, but that it interfered with or diluted the action of natural feeding inducers present in fish muscle extract. These effects are comparable with those which oil pollution has been found by other workers to have upon other anthozoans--the corals.

  4. Study to Evaluate Targeted Management and Syndromic Management in Women Presenting with Abnormal Vaginal Discharge.

    Science.gov (United States)

    Meena, Veena; Bansal, Charu Lata

    2016-10-01

    Vaginal discharge is a commonest complaint among women in reproductive age group. Infective vaginal discharge can be broadly categorized into vaginitis or mucopurulent cervicitis. Vaginitis is predominantly caused by bacterial vaginosis, vaginal candidiasis, vaginal trichomoniasis, etc. Mucopurulent cervicitis is due to chlamydia or gonococcal infection. The targeted management is based on identification of causative organism and targeting the therapy against it, while syndromic management is based on high risk factors's presence. To study the effect of targeted management as compared to syndromic management in achieving a complete cure for abnormal vaginal discharge and to study the microbial flora of women presenting with abnormal vaginal discharge. The study is a randomized control trial conducted at tertiary health care on 200 women who presented with abnormal vaginal discharge, distributed in two groups A and B each consisted of 100 women. Group A underwent laboratory investigations, and treatment was started as soon as reports were available. Group B was given syndromic management based on high risk factors's presence. Both groups were followed up after 2 weeks. The prevalence of various organisms in vaginal discharge was candidiasis 39 %, bacterial vaginosis 28 %, trichomoniasis 5 %, N. gonorrhoeae 5 % and chlamydia 2 % among the 100 women in group A. Response to treatment for vaginitis was 76.3 % in group A, whereas it was 41 % in group B. With cervicitis, 71.4 % women responded to treatment in targeted group as compared to 54 % in syndromic management group. There is a potential disadvantage of syndromic management because of its total reliability on a subjective clinical assessment.

  5. Acute parietal lobe infarction presenting as Gerstmann’s syndrome and cognitive decline mimicking senile dementia

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    Chen TY

    2013-07-01

    Full Text Available Tien-Yu Chen,1 Chun-Yen Chen,1,3 Che-Hung Yen,2,3 Shin-Chang Kuo,1,3 Yi-Wei Yeh,1,3 Serena Chang,1 San-Yuan Huang1,31Department of Psychiatry, 2Department of Neurology, Tri-Service General Hospital, School of Medicine, National Defense Medical Center, 3Graduate Institute of Medical Sciences, National Defense Medical Center, Taipei, Taiwan, Republic of ChinaAbstract: Gerstmann’s syndrome encompasses the tetrad of finger agnosia, agraphia, acalculia, and right-left confusion. An elderly man with a history of several cardiovascular diseases was initially brought to the psychiatric outpatient department by his family because of worsening of recent memory, executive function, and mixed anxious-depressive mood. Gerstmann’s syndrome without obvious motor function impairment and dementia-like features could be observed at first. Emergent brain computed tomography scan revealed new left-middle cerebral artery infarction over the left posterior parietal lobe. This case reminds us that acute cerebral infarction involving the parietal lobe may present as Gerstmann’s syndrome accompanied by cognitive decline mimicking dementia. As a result, emergent organic workups should be arranged, especially for elderly patients at high risk for cerebral vascular accident.Keywords: Gerstmann’s syndrome, dementia, parietal lobe infarction

  6. Papillon-Lefevre syndrome-like presentation in chronic arsenicosis: A rare mimicry.

    Science.gov (United States)

    Das, Somak K; Nath, Tanusree; Ghosal, Anirban; Jana, Chanchal K

    2012-09-01

    Chronic arsenicosis is a major health and occupational problem in rural parts of West Bengal such as in parts of the Gangetic plain of India. Chronic arsenicosis occurs due to accidental ingestion of repeated amounts of small doses by those working with metal or by taking food or drink in which there are traces of arsenic. Chronic exposure may result accumulation in the hair, nail, and skin. Arsenic can also cross the placenta. Papillon-Lefèvre syndrome is a rare disease characterized by skin lesions caused by palmar-plantar hyperkeratosis and severe periodontal destruction involving both the primary and permanent dentitions. Until date, more than 200 cases have been reported worldwide. Palmoplantar hyperkeratosis is a major manifestation in both chronic arsenicosis and Papillon-Lefèvre syndrome. We report herein a rare case of chronic arsenicosis in a patient from rural Bengal, whose all features mimic Papillon-Lefèvre syndrome. It is probably the first case of Papillon-Lefevre syndrome-like presentation in chronic arsenicosis from India.

  7. Present status of understanding on the genetic etiology of polycystic ovary syndrome

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    Dasgupta S

    2008-01-01

    Full Text Available Polycystic ovary syndrome (PCOS is the most common endocrinopathy in women of reproductive age with a prevalence of approximately 7-10% worldwide. PCOS reflects multiple potential aetiologies and variable clinical manifestations. This syndrome is characterized by serious health implications such as diabetes, coronary heart diseases and cancer and also leads to infertility. PCOS can be viewed as a heterogeneous androgen excess disorder with varying degrees of reproductive and metabolic abnormalities determined by the interaction of multiple genetic and environmental factors. In this paper, we have attempted a comprehensive review of primarily molecular genetic studies done so far on PCOS. We have also covered the studies focusing on the environmental factors and impact of ethnicity on the presentation of this syndrome. A large number of studies have been attempted to understand the aetiological mechanisms behind PCOS both at the clinical and molecular genetic levels. In the Indian context, majority of the PCOS studies have been confined to the clinical dimensions. However, a concrete genetic mechanism behind the manifestation of PCOS is yet to be ascertained. Understanding of this complex disorder requires comprehensive studies incorporating relatively larger homogenous samples for genetic analysis and taking into account the ethnicity and the environmental conditions of the population/cohort under study. Research focused on these aspects may provide better understanding on the genetic etiology and the interaction between genes and environment, which may help develop new treatment methods and possible prevention of the syndrome.

  8. Present status of understanding on the genetic etiology of polycystic ovary syndrome.

    Science.gov (United States)

    Dasgupta, S; Reddy, B Mohan

    2008-01-01

    Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women of reproductive age with a prevalence of approximately 7-10% worldwide. PCOS reflects multiple potential aetiologies and variable clinical manifestations. This syndrome is characterized by serious health implications such as diabetes, coronary heart diseases and cancer and also leads to infertility. PCOS can be viewed as a heterogeneous androgen excess disorder with varying degrees of reproductive and metabolic abnormalities determined by the interaction of multiple genetic and environmental factors. In this paper, we have attempted a comprehensive review of primarily molecular genetic studies done so far on PCOS. We have also covered the studies focusing on the environmental factors and impact of ethnicity on the presentation of this syndrome. A large number of studies have been attempted to understand the aetiological mechanisms behind PCOS both at the clinical and molecular genetic levels. In the Indian context, majority of the PCOS studies have been confined to the clinical dimensions. However, a concrete genetic mechanism behind the manifestation of PCOS is yet to be ascertained. Understanding of this complex disorder requires comprehensive studies incorporating relatively larger homogenous samples for genetic analysis and taking into account the ethnicity and the environmental conditions of the population/cohort under study. Research focused on these aspects may provide better understanding on the genetic etiology and the interaction between genes and environment, which may help develop new treatment methods and possible prevention of the syndrome.

  9. Papillon–Lefèvre syndrome: clinical presentation and management options

    Directory of Open Access Journals (Sweden)

    Sreeramulu B

    2015-07-01

    Full Text Available Basapogu Sreeramulu,1 Naragani DVN Shyam,2 Pilla Ajay,1 Pathipaka Suman1 1Department of Prosthodontics, 2Department of Oral Pathology, Government Dental College and Hospital, Hyderabad, Telangana State, India Abstract: Papillon–Lefèvre syndrome (PLS is a rare autosomal recessive disorder, characterized by diffuse palmoplantar keratoderma and precocious aggressive periodontitis, leading to premature loss of deciduous and permanent dentition at a very young age. Various etiopathogenic factors are associated with the syndrome, like immunologic alterations, genetic mutations, and the role of bacteria. Dentists play a significant role in the diagnosis and management of PLS as there are characteristic manifestations like periodontal destruction at an early age and an early eruption of permanent teeth. Here, we are presenting an elaborate review of PLS, its etiopathogenesis, clinical presentation, and management options. Keywords: deciduous and permanent dentition, modified complete dentures, palmoplantar keratoderma, periodontitis

  10. Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management

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    Lin Da Aw

    Full Text Available ABSTRACT Main findings: A typical male looking adolescent with a legal female gender assignment presented with haematuria. Investigations led to the diagnosis of Persistent Mullerian Duct Syndrome. The condition is indeed a rare entity that needs a multidisciplinary team management. Case hypothesis: A case of Persistent Mullerian Duct Syndrome undiagnosed at birth because karyotyping was defaulted, thus resulting in a significant impact on the legal gender assignment and psychosocial aspects. Promising future implications: The reporting of this case is important to create awareness due to its rarity coupled with the rare presentation with hematuria as a possible masquerade to menstruation. There were not only medical implications, but also psychosocial and legal connotations requiring a holistic multidisciplinary management.

  11. Two Brothers with Bardet-Biedl Syndrome Presenting with Chronic Renal Failure

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    Cem Sahin

    2015-01-01

    Full Text Available Bardet-Biedl Syndrome (BBS is a rarely seen autosomal recessive transfer disease characterised by retinal dystrophy, obesity, extremity deformities, mental retardation, and renal and genital system anomalies. BBS shows heterogenic transfer. To date, 18 genes (BBS1–18 and 7 BBS proteins have been defined as related to BBS. All of the defined BBS genes have been shown to be related to the biogenesis or function of cilia. Renal failure accompanying the syndrome, especially in the advanced stages, is the most common cause of mortality. Therefore, as one of the major diagnostic criteria, renal damage is of great importance in early diagnosis. This paper presents the cases of two brothers with BBS who presented with chronic renal failure.

  12. Progressive multifocal leukoence-phalopathy presenting as homonymous hemianopia in a patient with acquired immunodeficiency syndrome

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    Amit Pandey

    2012-01-01

    Full Text Available We present a case of a Human Immunodeficiency Virus (HIV positive patient who was referred for retinal evaluation to rule out ophthalmic manifestations of Acquired Immunodeficiency Syndrome (AIDS. She complained of some disturbance in vision in both eyes. Fundus examination showed no abnormality. Perimetry, done to rule out optic nerve pathology, showed a left homonymous hemianopia. Magnetic Resonance Imaging (MRI scan showed features of Progressive Multifocal Leukoencephalopathy (PML. She had no other neurological symptoms or signs.

  13. Diabetic lipemia presenting as eruptive xanthomas in a child with autoimmune polyglandular syndrome type IIIa.

    Science.gov (United States)

    Batra, Prerna; Singhal, Rashi; Shah, Dheeraj

    2014-05-01

    Diabetic lipemia, although common in type 2 diabetes, is rare in type 1 diabetes mellitus. It may manifest as lipemia retinalis, eruptive xanthomas, fatty liver, and pancreatitis. We describe a 6-year-old girl diagnosed with autoimmune poly-glandular syndrome type IIIa, who presented with diabetic lipemia manifesting as eruptive xanthomas. Probable metabolic derangements causing such severe lipid abnormalities and its treatment are discussed.

  14. Primary mediastinal melanoma presenting as superior vena cava syndrome: A case study

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    Ann C Gaffey

    2016-03-01

    Full Text Available The rates of melanoma have increased over the past 30 years. Malignant melanoma most commonly occurs in the skin with secondary involvement of other organs. Here, we present an extremely rare case of malignant melanoma of the mediastinum with presentation of superior vena cava syndrome without clinical evidence of extrathoracic disease. The incidence of this clinical presentation is uncommon, resulting in only a handful of case reports in the literature. [Arch Clin Exp Surg 2016; 5(1.000: 56-58

  15. Persistent Mullerian duct syndrome presenting as an inguinal hernia : A case report

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    Amit Dangi

    2016-10-01

    Full Text Available A brief report of persistent mullerian duct syndrome (PMDS with 46XY karyotype which is one of the rarest variety of disorders of sexual differentiation (DSD accounting only 5% cases of all is being presented. A 21 years old male with left inguinal hernia and absent right testis presented in surgical outdoor and was operated. On exploration female genital organs like uterus and fallopian tubes along with contralateral testis were present in left inguinal canal as a content of sliding left inguinal hernia.

  16. A Guyon's canal ganglion presenting as occupational overuse syndrome: A case report

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    Hennessy Michael J

    2008-02-01

    Full Text Available Abstract Background Occupational overuse syndrome (OOS can present as Guyon's canal syndrome in computer keyboard users. We report a case of Guyon's canal syndrome caused by a ganglion in a computer user that was misdiagnosed as OOS. Case presentation A 54-year-old female secretary was referred with a six-month history of right little finger weakness and difficulty with adduction. Prior to her referral, she was diagnosed by her general practitioner and physiotherapist with a right ulnar nerve neuropraxia at the level of the Guyon's canal. This was thought to be secondary to computer keyboard use and direct pressure exerted on a wrist support. There was obvious atrophy of the hypothenar eminence and the first dorsal interosseous muscle. Both Froment's and Wartenberg's signs were positive. A nerve conduction study revealed that both the abductor digiti minimi and the first dorsal interosseus muscles showed prolonged motor latency. Ulnar conduction across the right elbow was normal. Ulnar sensory amplitude across the right wrist to the fifth digit was reduced while the dorsal cutaneous nerve response was normal. Magnetic resonance imaging of the right wrist showed a ganglion in Guyon's canal. Decompression of the Guyon's canal was performed and histological examination confirmed a ganglion. The patient's symptoms and signs resolved completely at four-month follow-up. Conclusion Clinical history, occupational history and examination alone could potentially lead to misdiagnosis of OOS when a computer user presents with these symptoms and we recommend that nerve conduction or imaging studies be performed.

  17. MR imaging in Guillain-Barre syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Iwata, F. [Dept. of Pediatrics, Tokyo Metropolitan Hiroo General Hospital (Japan); Utsumi, Y. [Dept. of Pediatrics, Tokyo Metropolitan Hiroo General Hospital (Japan)

    1997-01-01

    MRI in a 5-year-old girl with Guillain-Barre syndrome showed marked enhancement of nerve roots in the region of the conus medullaris and cauda equina. This enhancement gradually disappeared after high-dose immunoglobulin therapy. This characteristic finding of MRI may have diagnostic utility and represent the clinical course of the disease. (orig.). With 2 figs.

  18. [Munchausen syndrome, a factitious injury, presenting brain abscess and intraventricular hemorrhage: a case report].

    Science.gov (United States)

    Goto, Yukihiro; Sasajima, Hiroyasu; Aita, Kazuyasu; Furuno, Yuichi; Owada, Kei; Tatsuzawa, Kazunori; Inoue, Yasuo; Mineura, Katsuyoshi

    2011-04-01

    Munchausen syndrome is a factitious disorder. Patients sometimes inflict injury on themselves in order to assume a sick role. The authors report a patient with Munchausen syndrome suffered from brain abscess, reopened wound and intraventricular hemorrhage. A 64-year-old male was admitted to our hospital after head injury. CT and MR imaging revealed a mass with surrounding edema in the right frontal lobe. The mass was surgically removed, and diagnosed as brain abscess. During the surgery, the authors noticed a small bone defect in the frontal bone above the brain abscess; therefore, we considered that head injury just concerned this lesion. There were no particular clues leading to other possible pathologies. After the first surgery, the patient presented atypical seizures several times. Once we discharged him from our hospital, we hospitalized him again because the wound had reopened. A subsequent operation was needed, and we removed the bone flap which we considered the origin of the infection. After the second surgery, he stabbed a nail into his head where the bone had been removed due to the previous surgery, and presented intraventricular hemorrhage. The hemorrhage decreased in size through non-surgical treatment and he was referred to the psychiatry department under a diagnosis of Munchausen syndrome. Diagnosis of this entity is difficult and often made at the later stage of hospitalization, because patients present a variety of complaints and clinical symptoms, which are hardly proved factitious. Early consideration of this syndrome will offer an early and accurate diagnosis, and is mandatory for a good prognosis.

  19. [Right sensory-motor syndrome as the presentation of a spontaneous cervico-thoracic epidural hematoma].

    Science.gov (United States)

    Castro, M; Egido, J A; Saldaña, C; Andrés, M T

    1998-10-01

    A spontaneous cervical epidural hematoma is an infrequent cause of cord compression. The commonest clinical presentations are with paraparesia and tetraparesia. Transient hemiparesia is very rare and a sensory-motor syndrome is exceptional. A 38 year old man had sudden onset of spontaneous interscapular vertebral pain with bilateral root radiation. A few minutes later he started to have weakness and sensory loss in his right limbs. On clinical examination there was pain on pressure over the spinal apophyses of the T4 and T5 vertebrae, hemiparesia and hemi-hypoalgesia of the right limbs. After ten hours this had all returned to normal. MRI of the cord showed an epidural hematoma extending from C6 to T2. Coagulation studies and spinal arteriography were normal. The sensory motor syndrome is an unusual form of presentation of a spontaneous cervico-thoracic epidural hematoma. Root pain is a symptom of great value for orientation of a syndrome which would otherwise seem to be of central origin. The explanation for this clinical findings may be compression of both lateral cord pathways due to their particular blood distribution. Regarding therapeutic approach, this should be conservative, with close observation to see whether it will resolve spontaneously in a short period of time.

  20. Struma Ovarii Associated with Pseudo-Meigs’ Syndrome: A Rare Presentation of an Infrequent Tumor

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    Sonia Chhabra

    2017-01-01

    Full Text Available Struma ovarii is an uncommon highly specialized ovarian teratoma that accounts for less than 5% of mature teratomas. It is composed predominantly of mature thyroid tissue. Thyroid tissue is observed in 5%-15% of teratomas; however, to qualify as a struma ovarii tumor, the thyroid proportion must comprise more than 50% of the overall tissue. The combination of pseudo Meigs'syndrome and elevation of CA 125 with struma ovarii is a rare condition that can mimic ovarian malignancy. The majority of strumas are benign, however occasionally malignant transformation may be seen. We have reported a case of benign struma ovarii that presented with the clinical features of advanced ovarian carcinoma: complex pelvic mass, gross ascites, bilateral pleural effusion, and markedly elevated serum CA 125 levels. The patient underwent total abdominal hysterectomy and bilateral salpingo oophorectomy. Ascites and pleural effusion resolved completely, and the CA 125 levels have returned to normal following surgical excision. Patients with pseudo-Meigs’ syndrome may present a diagnostic problem as they masquerade as carcinoma with malignant effusions. In addition, the coexistence of struma ovarii and pseudo-Meigs’ syndrome is a very rare event. We emphasize by this report that, despite its rarity, a differential diagnosis of struma ovarii should be included for an ovarian mass.

  1. Brachial neuritis or Parsonage-Turner syndrome: A problem of liability. A presentation of 3 cases.

    Science.gov (United States)

    Rodríguez-Hornillo, M; de la Riva, M C; Ojeda, R

    2016-01-01

    Neuralgic amyotrophy, brachial neuritis or Parsonage-Turner syndrome is a rare neuromuscular involvement of unknown aetiology. When it onsets in connection with a health care act, such as childbirth or surgery, a malpractice argument is often used as a cause of adverse outcome, usually due to an incorrect position of the patient on the operating table, a circumstance which directly involves the anesthesia area. Three cases are presented of Parsonage-Turner syndrome following very different surgery, with different results as regards prognosis. A review and discussion of bibliography is presented on the possibility that such circumstances are the subject of malpractice claims. Special emphasis is placed on the most currently accepted aetiopathogenic theories, and the relationship of this syndrome with the surgical act as a determining medico-legal aspect. Valuation parameters are proposed. Copyright © 2016 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

  2. Compartment syndrome of the deltoid: a case report of a common presentation in a rare location.

    Science.gov (United States)

    Harrison, Andrew; Sumner, Michael; Sobecki, Jeffrey; Christiansen, Gregory

    2016-10-01

    Compartment syndrome presents with a slow onset of pain. Anything that causes an increased intra-compartmental pressure can lead to surgical emergency. A 45-year-old male presents to the emergency department with prolonged syncope. The patient is unable to recall the previous night except for using oxycodone. Patient medical history is significant for ischemic cardiomyopathy and myocardial infarction. Physical exam showed left arm pain and swelling, decreased sensation to light touch, and decreased range of motion. The left forearm was cool to touch with decreased pulses. Blood urea nitrogen/creatinine ratio was 47/4.0, white blood cell was 15.1, troponin was 34.2, and creatine kinase was immeasurable. Electrocardiogram showed non-specific T-wave abnormalities. Computed tomography showed left hemithoracic musculature enlargement. The patient's symptoms continued to worsen. The patient underwent emergency fasciotomy to relieve intra-compartmental pressure. Compartment syndrome of the deltoid is rare and yielded less than ten cases in our literature review. Although compartment syndrome usually affects the forearm, one must consider its possibility in any anatomical location.

  3. Prepubertal presentation of Herlyn-Werner-Wunderlich syndrome: a case report.

    Science.gov (United States)

    Sanghvi, Yogendra; Shastri, Pankaj; Mane, S B; Dhende, Nitin P

    2011-06-01

    Herlyn-Werner-Wunderlich syndrome represents a complex female genital malformation with uterus didelphys, unilateral low vaginal obstruction, and ipsilateral renal agenesis, all 3 being secondary to mesonephric duct-induced müllerian anomalies. Clinically, this usually presents in postpubertal adolescent or adult women where hematometrocolpos produces a more pronounced mass effect and pain on the side of the obstructed hemivagina. It is extremely rare for this to present in infancy and early childhood because imaging may not show the small prepubertal uteri and vaginas clearly. We describe a 4-year-old girl with all of the features of this syndrome. Ipsilateral renal agenesis with a pelvic mass should raise the level of suspicion for this syndrome. Magnetic resonance imaging will confirm the diagnosis, so that early endoscopic resection of the obstructing vaginal septum can be carried out as definitive treatment. Long-term outcome is quite good with expectation of normal fertility. Copyright © 2011 Elsevier Inc. All rights reserved.

  4. Urinary Incontinence in Puberty: A Rare Clinical Presentation of the Herlyn-Werner-Wunderlich Syndrome.

    Science.gov (United States)

    Dogan, Askin; Uyar, Ibrahim; Demirtas, Gulsah Selvi; Ekin, Atalay; Gulhan, Ibrahim; Ertas, Ibrahim E; Ozeren, Mehmet

    2016-12-01

    We report on an unusual presentation of Herlyn-Werner-Wunderlich syndrome in two 11-year-old girls within a year of menarche. The setting was a training and research hospital. We present two patients in the pubertal period with cyclic abdominal pain and urinary incontinence who received hysteroscopic septal resection. Menstrual flow was resumed and the complaints of incontinence were eliminated after the hysteroscopic resection of the vaginal septum. Overflow incontinence was completely resolved after septum resection in two patients. The risk of stricture is high in Herlyn-Werner-Wunderlich syndrome if the septum is partially excised to open the obstruction, whereas the risk of stricture is low if a complete or wide excision is performed. In the presence of abdominal pain and urinary incontinence in puberty, Herlyn-Werner-Wunderlich syndrome must be considered in the differential diagnosis, and a detailed evaluation of the urinary system and pelvic anatomy must be performed. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  5. Iatrogenic Cushing's syndrome in children presenting at Children's Hospital Lahore using nappy rash ointments.

    Science.gov (United States)

    Sattar, Hina; Manzoor, Jaida; Mirza, Liaqat; Sheikh, Abdul Malik; Butt, Taeed Ahmad

    2015-05-01

    To study the characteristics of infants and children presenting with iatrogenic Cushing's Syndrome due to nappy rash ointments. The descriptive study was conducted at the Children's Hospital, Lahore, from April to September 2013, and comprised patients presenting with cushingoid features and history of using nappy rash ointments. Patients having Cushing's Syndrome due to causes other than iatrogenic were excluded and so were those taking oral or parenteral steroids due to skin allergy, renal or respiratory disease. Demographic data, history and examination of all patients were recorded on a proforma and results were analysed using SPSS 16. Of the total 18 patients, 13(72%) were girls and 5(27%) were boys. Eight (44.4%) patients were younger than 6 months, 6(33.3%) were between 6 months to 1 year, while 4(22.2%) were between 12 and 18 months of age. Clobetasol alone was the most frequently used agent responsible in 13(72%) cases. Duration of use of steroid ointment was as short as 3 weeks to as much as 1 year. All the patients were using disposable diapers. Ointment was prescribed by a doctor in 5(27%) cases and self-prescribed (relative or neighbour) in 13(72%). Self-medication and prolonged use of potent steroid ointments are major contributors in development of iatrogenic Cushing's Syndrome in infants and children. Younger age, female gender and use of disposable diapers were other important predisposing factors.

  6. A Case of Goldenhar Syndrome Associated with a New Retinal Presentation: Exudative Vitelliform Maculopathy

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    Claudia Bruè

    2015-01-01

    Full Text Available Goldenhar syndrome is a rare clinical disturbance with a wide range of clinical manifestations. We report on a 6-year-old male with peculiar retinal presentation of Goldenhar syndrome. The patient was referred to Ophthalmology for central scotoma in the left eye, where visual acuity was 20/100. Fundus examination was unremarkable, except for yellowish material in the central macula. SD-OCT revealed interruption of the external limiting membrane and inner and outer segment junctions, with disorganized material in the vitelliform space and subretinal fluid. Six months later, fundus and SD-OCT examinations were unchanged without treatment, but visual acuity in the left eye had improved to 20/50. Five years later, he had similar clinical manifestations in the right eye. He was started on systemic steroids. After 15 days, his visual acuity improved to 20/20 and subretinal fluid and yellowish material in the vitelliform space disappeared. Goldenhar syndrome has variable presentation, including vitelliform maculopathy.

  7. Guillain-Barré Syndrome as First Presentation of Non-Hodgkin's Lymphoma

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    Abolhassan Ertiaei

    2016-07-01

    Full Text Available We present a woman referred with underlying non-Hodgkin's lymphoma (NHL masquerading clinically with Guillain-Barré syndrome (GBS like syndrome. At first evaluation, chest CT-Scan along with brain and whole spine MRI were normal. Electrodiagnostic studies were in favor of acute generalized polyradiculoneuropathy. Laboratory evaluation revealed hypoglycorrhachia. She treated with plasmapheresis after two weeks; she was discharged from hospital, but neurological recovery was not complete. After 6 months, she came back with acute onset of weakness in lower limbs, back pain, fever and urinary incontinence. Pinprick and light touch complete sensory loss was found beneath umbilicus. Thoracic MRI with contrast revealed a dorsal epidural mass extending smoothly from T8 to T12 (10 cm with spinal cord compression. She underwent urgent laminectomy for spinal cord decompression. Histological examination revealed small round cell tumor suggestive of malignant T-cell type lymphoma. In cases with Guillain-Barré syndrome presentation, systemic hematologic disorders such as non-Hodgkin's lymphoma should be considered as one of the differential diagnosis of underlying disease.

  8. A Rare Case of Functioning Adrenocortical Oncocytoma Presenting as Cushing Syndrome

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    Nicola Tartaglia

    2016-01-01

    Full Text Available Functioning adrenocortical oncocytoma is very rare neoplasm. It is usually nonfunctional and benign and incidentally detected. Generally, these tumors originate in the kidneys, thyroid, parathyroid, and salivary or pituitary glands; they have also been reported in other sites including choroid plexus, respiratory tract, and larynx. Histologically, they are characterized by cells with eosinophilic granular cytoplasm and numerous packed mitochondria. We reported a case of a 44-year-old female who presented with Cushing syndrome for hypersecretion of cortisol due to adrenocortical oncocytoma. Magnetic resonance of abdomen revealed a right adrenal mass. Laparoscopic adrenalectomy was performed and the tumor was pathologically confirmed as benign adrenocortical oncocytoma. After surgical treatment, Cushing’s syndrome resolved.

  9. Reversible cerebral vasoconstriction syndrome presenting as subarachnoid hemorrhage: A rare cause of postpartum seizure.

    Science.gov (United States)

    Lee, Sun Hwa; Yun, Seong Jong; Choi, Yoon Hee

    2017-05-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a rare cerebrovascular disorder affecting large- and medium-sized arteries, occurring most commonly in young women. Thunderclap headache is the usual primary symptom; seizure is uncommon. During the postpartum period, seizure is a significant concern. The main causes of postpartum seizures are posterior reversible encephalopathy syndrome and cortical venous thrombosis; RCVS-related postpartum seizure is rare. Despite its rarity, its course may be fulminant, resulting in permanent disability or death if the diagnosis is delayed and treatment is not started promptly. We report an unusual case of RCVS presenting as a subarachnoid hemorrhage in a 31-year-old woman admitted for postpartum seizure. Copyright © 2016 Elsevier Inc. All rights reserved.

  10. Posterior Cord Syndrome and Trace Elements Deficiency as an Uncommon Presentation of Common Variable Immunodeficiency

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    Yuri Silva Macedo

    2017-01-01

    Full Text Available Diarrhea is one of the most common symptoms in common variable immunodeficiency, but neurologic manifestations are rare. We presented a 50-year-old woman with recurrent diarrhea and severe weight loss that developed a posterior cord syndrome. Endoscopy found a duodenal villous blunting, intraepithelial lymphocytosis, and lack of plasma cells and magnetic resonance imaging of the spine was normal. Laboratory assays confirmed common variable immunodeficiency syndrome and showed low levels of trace elements (copper and zinc. Treatment was initiated with parenteral replacement of trace elements and intravenous human immunoglobulin and the patient improved clinically. In conclusion, physicians must be aware that gastrointestinal and neurologic disorders may be related to each other and remember to request trace elements laboratory assessment.

  11. A case of liddle′s syndrome; unusual presentation with hypertensive encephalopathy

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    Sunil Kumar Kota

    2014-01-01

    Full Text Available Liddle′s syndrome is a rare cause of secondary hypertension. Identification of this disorder is important because treatment differs from other forms of hypertension. We report an interesting case of a 35-year-old lady, a known diabetic and hypertensive patient, who presented with features of hypertensive encephalopathy. The family history was unremarkable. Past treat-ment with various combinations of antihypertensive medications including spironolactone, all at high doses, failed to control her blood pressure. Upon evaluation, the patient had hypokalemic alkalosis, low 24-h urine potassium and suppressed plasma renin activity. Although these findings were similar to hyperaldosteronism, plasma aldosterone was lower than the normal range. Blood pressure decreased markedly after administration of amiloride. Along with hyporeninemic hypo-aldosteronism, the non-responsiveness to spironolactone and good response to amiloride esta-blished the diagnosis of Liddle′s syndrome.

  12. Lemierre syndrome presenting as acute mastoiditis in a 2-year-old girl with congenital dwarfism

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    Jason B. Fischer

    2015-06-01

    Full Text Available Lemierre syndrome is defined by septic thrombophlebitis of the internal jugular vein caused by Fusobacterium. Historically, these infections originate from the oropharynx and typically are seen in older children, adolescents and young adults. More recently, otogenic sources in younger children have been described with increasing frequency. We present a case of a two-year old, who initially developed an otitis media with perforation of the tympanic membrane and went on to develop mastoiditis and non-occlusive thrombosis of the venous sinus and right internal jugular vein. Fusobacterium necrophorum was grown from operative cultures of the mastoid, ensuing computed tomography scan revealed occlusion of the internal jugular vein and the patient was successfully treated with clindamycin, ciprofloxacin and enoxaparin. This case demonstrates the importance of considering Fusobacterium in otogenic infections and the consideration of Lemierre syndrome when F. necrophorum is identified.

  13. Analysis of acute ischemic stroke presenting classic lacunar syndrome. A study by diffusion-weighted MRI

    Energy Technology Data Exchange (ETDEWEB)

    Terai, Satoshi; Ota, Kazuki; Tamaki, Kinya [Hakujyuji Hospital, Fukuoka (Japan)

    2002-03-01

    We retrospectively assessed the pathophysiological features of acute ischemic stroke presenting ''classic'' lacunar syndrome by using diffusion-weighted imaging (DWI). Subjects were 16 patients who were admitted to our hospital within 24 hours of stroke onset and underwent DWI examination on admission. These were divided into three categorical groups; pure motor hemiplegia (PMH) in 8, sensorimotor stroke (SMS) in 7, and dysarthria-clumsy hand syndrome (DCHS) in 1. The fresh responsible lesions were identified by DWI in the perforating territory in 7 patients with PMH and 7 with SMS. Four (one had two possible response lesions; pons and corona radiata) and five patients in the respective groups were diagnosed as lacunar infarction on admission (the largest dimension of the lesion measuring smaller than 15 mm). On the contralateral side to the neurological symptoms, DWI revealed high intensities in cortex, subcortical white matter, and anterior and posterior border zones in the remaining one patient with PMH and in the precentral arterial region in one with DCHS. They were diagnosed as atherothrombotic infarction resulting from the occlusion of the internal carotid artery and cerebral embolism due to atrial fibrillation, respectively. Three patients with PMH showed progressive deterioration after admission and follow-up DWI study in an acute stage revealed enlargement of heir ischemic lesions. The present study suggests that DWI is a useful imaging technique for diagnosis of clinical categories and observation for pathophsiological alteration in the acute ischemic stroke patients with ''classic'' lacunar syndrome. Our results also indicate a necessity to be aware that various types of fresh ischemic lesions other than a single lacune might possibly be developing in cases with this syndrome. (author)

  14. Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.

    Science.gov (United States)

    Eker, Hatice Koçak; Derinkuyu, Betül Emine; Ünal, Sevim; Masliah-Planchon, Julien; Drunat, Séverine; Verloes, Alain

    2014-01-01

    Baraitser-Winter syndrome (BRWS) is a rare condition affecting the development of the brain and the face. The most common characteristics are unusual facial appearance including hypertelorism and ptosis, ocular colobomas, hearing loss, impaired neuronal migration and intellectual disability. BRWS is caused by mutations in the ACTB and ACTG1 genes. Cerebro-fronto-facial syndrome (CFFS) is a clinically heterogeneous condition with distinct facial dysmorphism, and brain abnormalities. Three subtypes are identified. We report a female infant with striking facial features and brain anomalies (included polymicrogyria) that fit into the spectrum of the CFFS type 3 (CFFS3). She also had minor anomalies on her hands and feet, heart and kidney malformations, and recurrent infections. DNA investigations revealed c.586C>T mutation (p.Arg196Cys) in ACTB. This mutation places this patient in the spectrum of BRWS. The same mutation has been detected in a polymicrogyric patient reported previously in literature. We expand the malformation spectrum of BRWS/CFFS3, and present preliminary findings for phenotype-genotype correlation in this spectrum. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  15. Late Presentation of Ataxia, Areflexia, and Electrophysiological Abnormalities as Part of Miller Fisher Syndrome: Case Report.

    Science.gov (United States)

    Somer, Deniz; Yilmaz, Arzu; Tiras Teber, Serap; Cinar, Fatma Gul

    2016-08-01

    Miller Fisher syndrome (MFS) is characterised by the triad of ophthalmoplegia, ataxia, and areflexia. A case with external ophthalmoplegia and absence of ataxia and areflexia until the end of second week is presented. Electrophysiological findings became apparent after the third week and showed reduced amplitudes of sensory nerve action potentials and prolonged latencies of F with no evidence of conduction blocks. There was no response to intravenous immunoglobulin, but there was response to corticosteroids. This case may represent an atypical MFS with late presenting electrophysiological abnormalities. Corticosteroids can be a therapeutic option when intravenous immunoglobulin fails to control clinical symptoms.

  16. Herlyn-Werner-Wunderlich syndrome presenting with infertility: Role of MRI in diagnosis.

    Science.gov (United States)

    Ahmad, Zohra; Goyal, Ankur; Das, Chandan J; Deka, Dipika; Sharma, Raju

    2013-07-01

    Herlyn-Werner-Wunderlich syndrome (HWWS), characterized by uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis, is an uncommon combined Mullerian and mesonephric duct anomaly, and its presentation in adulthood is even rarer. We report here a 22-year-old female presenting with primary infertility where magnetic resonance imaging (MRI) suggested the diagnosis of HWWS with endometriosis. In a patient of infertility with endometriosis and unilateral renal agenesis, diagnosis of HWWS should be suspected and MRI is the investigation of choice for such anomalies.

  17. Herlyn-Werner-Wunderlich syndrome presenting with infertility: Role of MRI in diagnosis

    Directory of Open Access Journals (Sweden)

    Zohra Ahmad

    2013-01-01

    Full Text Available Herlyn-Werner-Wunderlich syndrome (HWWS, characterized by uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis, is an uncommon combined Mullerian and mesonephric duct anomaly, and its presentation in adulthood is even rarer. We report here a 22-year-old female presenting with primary infertility where magnetic resonance imaging (MRI suggested the diagnosis of HWWS with endometriosis. In a patient of infertility with endometriosis and unilateral renal agenesis, diagnosis of HWWS should be suspected and MRI is the investigation of choice for such anomalies.

  18. Herlyn–Werner–Wunderlich syndrome presenting with infertility: Role of MRI in diagnosis

    Science.gov (United States)

    Ahmad, Zohra; Goyal, Ankur; Das, Chandan J; Deka, Dipika; Sharma, Raju

    2013-01-01

    Herlyn-Werner-Wunderlich syndrome (HWWS), characterized by uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis, is an uncommon combined Mullerian and mesonephric duct anomaly, and its presentation in adulthood is even rarer. We report here a 22-year-old female presenting with primary infertility where magnetic resonance imaging (MRI) suggested the diagnosis of HWWS with endometriosis. In a patient of infertility with endometriosis and unilateral renal agenesis, diagnosis of HWWS should be suspected and MRI is the investigation of choice for such anomalies. PMID:24347855

  19. [Posterior leukoencephalopathy syndrome presenting with bilateral ataxie optique: a case report].

    Science.gov (United States)

    Yamashiro, Kazuo; Kunoki, Makiko; Miura, Yoshiharu; Tomiyama, Junji; Mochizuki, Hideki; Mizuno, Yoshikuni

    2005-01-01

    We report a 45 years old right-handed woman who developed acute respiratory distress syndrome (ARDS) after the operation for rupture of an ovarian cyst. One week after the onset of ARDS, she presented visual disturbance and Gerstmann syndrome. MRI T2-weighted images demonstrated abnormal high intensity lesions involving the gray and white matter of the occipital lobes bilaterally extending to the parietal lobes. Based on these findings, she was diagnosed as having posterior leukoencephalopathy syndrome (PLES). Her neurologic symptoms gradually improved, however, she started to complain of difficulty in grasping a cup placed on her peripheral visual fields. Neurological examination revealed no visual disturbance, weakness or cerebellar ataxia. She could easily reach objects presented in the central visual field, however, she could not grasp objects presented peripheral visual fields, while she was looking straight ahead. This disorder was observed both in the right and left visual field, whether she used the right hand or the left hand. We thought she had ataxie optique of Garcin. She was noted to have bilateral both direct and crossed ataxie optique. Ataxie optique is characterized by disturbance in reaching objects presented in the peripheral visual field. The underlying pathophysiologic mechanism is believed to be disconnection of the fibers between the primary visual area and the angular gyrus at the parietooccipital junction. Crossed ataxie optique consisting of difficulty in reaching objects presented in the contralateral visual field believed to be caused by disconnection of crossed pathways of the corpus callosum. Ataxie optique in our patient can be explained by disconnection of both direct and crossed fibers. Ataxie optique is sometimes unrecognized by the patient. Our patient suggests that ataxie optique may well be a symptom of PLES.

  20. Guillain-Barre syndrome presenting with sensory disturbance following a herpes virus infection: a case report

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    Ntziora Fotinie

    2011-12-01

    Full Text Available Abstract Introduction We present a case of an unusual clinical manifestation of Guillain-Barre syndrome following a pre-existing herpes virus infection. Although there have been several reports describing the co-existence of herpes virus infection and Guillain-Barre syndrome, we undertook a more in-depth study of the cross-reactivity between herpes viruses and recommend a follow-up study based on serology tests. Case presentation A 39-year-old healthy Caucasian man with Guillain-Barre syndrome presented to our facility initially with sensory disturbance, followed by an atypical descending pattern of clinical progression. On physical examination, our patient showed hot and cold temperature sensory disturbance under the T4 vertebrae level, symmetrically diminished muscle power mainly to his lower limbs, blurred vision, a loss of taste and paresis and diminished reflexes of his lower limbs. Serology test results for common viruses on hospital admission were positive for cytomegalovirus immunoglobulin M, cytomegalovirus immunoglobulin G, herpes simplex virus immunoglobulin M, herpes simplex virus immunoglobulin G, Epstein-Barr virus immunoglobulin M, and varicella zoster virus immunoglobulin G, borderline for Epstein-Barr virus immunoglobulin G and negative for varicella zoster virus immunoglobulin M. At one month after hospital admission his test results were positive for cytomegalovirus immunoglobulin M, cytomegalovirus immunoglobulin G, herpes simplex virus immunoglobulin G, Epstein-Barr virus immunoglobulin G, varicella zoster virus immunoglobulin G, borderline for herpes simplex virus immunoglobulin M and negative for Epstein-Barr virus immunoglobulin M and varicella zoster virus immunoglobulin M. At his six month follow-up, tests were positive for cytomegalovirus immunoglobulin G, herpes simplex virus immunoglobulin M, herpes simplex virus immunoglobulin G, Epstein-Barr virus immunoglobulin G and varicella zoster virus immunoglobulin G and

  1. Vertebral artery dissection presenting as a Brown-Séquard syndrome: a case report

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    Miller Saul

    2009-11-01

    Full Text Available Abstract Introduction Vertebral artery dissection has become increasingly recognized as an important cause of stroke. It usually presents with posterior headache or neck pain followed within hours or days by signs of posterior circulation stroke. To the best of our knowledge, the clinical presentation of a Brown-Séquard syndrome with a vertebral artery dissection has been reported only once before. Case presentation An otherwise healthy 35-year-old man presented with acute left-sided weakness. He had experienced left-sided posterior neck pain after a 4-hour flight 4 weeks previously. Physical examination was consistent with a left Brown-Séquard syndrome. Magnetic resonance angiography showed evidence of left vertebral artery dissection. He improved after therapy with anticoagulants. Conclusion We report a case of an unusual presentation of a relatively uncommon condition. This diagnosis should be considered early in relatively young patients with stroke-like symptoms or unexplained neck pain, because missing a dissection can result in adverse outcomes.

  2. Meningeal dissemination of a pituitary carcinoma to the cauda equina in a dog

    Science.gov (United States)

    Sheehan, Nora K.; Rylander, Helena; Christensen, Neil; Nafe, Laura A.

    2017-01-01

    An 8-year-old spayed female border collie dog was diagnosed with an invasive pituitary macrotumor. Five months after radiation therapy, the patient developed paraparesis and lumbosacral pain. Necropsy revealed a pituitary carcinoma with cauda equina drop metastasis. In cases of pituitary masses, meningeal dissemination should be considered if neurologic status declines. PMID:28761190

  3. Gas-filled intradural cyst with migration into the nerve root of the cauda equina.

    Science.gov (United States)

    Kudo, Yohei; Nishijima, Yoji; Mochida, Kiyoshi; Sekido, Yasutomo; Tachibana, Shigekuni

    2008-05-01

    Only 4 cases of gas-filled intradural cysts of the spine have been reported previously. All cysts were due to intradural herniation of a gas-containing disc. The authors report 2 additional patients with gas-filled intradural cysts that migrated into the nerve root of the cauda equina. After surgical treatment their severe leg pain completely resolved.

  4. Osteolytic-variant POEMS syndrome: an uncommon presentation of ''osteosclerotic'' myeloma

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    Clark, Michael S.; Howe, Benjamin M.; Glazebrook, Katrina N.; Broski, Stephen M. [Mayo Clinic, Department of Radiology, Rochester, MN (United States); Mauermann, Michelle L. [Mayo Clinic, Department of Neurology, Rochester, MN (United States)

    2017-06-15

    Polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes (POEMS) syndrome, a form of osteosclerotic myeloma, is a multisystem disease related to a monoclonal plasma cell proliferative disorder. Osseous lesions are most commonly sclerotic on radiographs and computed tomography (CT), demonstrate low T1 and T2 signal intensity on magnetic resonance imaging (MRI), and have variable degrees of avidity on positon emission tomography (PET) imaging using 18-fluorodeoxyglucose ({sup 18}F-FDG). We present three cases of POEMS syndrome manifesting as osteolytic lesions with indolent features, including well-defined thin sclerotic rims, no cortical disruption or periosteal reaction, no associated soft-tissue mass, and a periarticular location, all features that could lead to misinterpretation as benign bone lesions. We also report increased T1 signal and diffuse solid enhancement of these lesions on MRI, features previously unreported. POEMS syndrome should not be discounted as a diagnostic consideration in the setting of osteolytic lesions with non-aggressive imaging characteristics on radiographs or CT, especially in the presence of other supportive clinical features. (orig.)

  5. Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism.

    Science.gov (United States)

    Gradstein, Libe; Hansen, Ronald M; Cox, Gerald F; Altschwager, Pablo; Fulton, Anne B

    2017-04-01

    We report for the first time electroretinographic (ERG) evidence of progressive retinal abnormalities in a girl who presented in infancy with ocular features of albinism and gradually developed choroidal sclerosis and patchy retinal atrophy leading to a diagnosis of Knobloch syndrome (KS, OMIM 267750, COL18A1). At age 2 months, nystagmus and esotropia prompted ophthalmic evaluation. The appearance of choroidal sclerosis and atrophic retinal patches led to further evaluation at age 8 years. Genetics consultation was obtained in infancy and again at age 8 years as retinal findings evolved. Full field ERG responses in both scotopic and photopic conditions were recorded at both ages and compared to those in healthy control subjects. At age 2 months ERG response parameters were within normal limits for age and tyrosinase (TYR) gene sequencing revealed one novel mutation, p.S466F, and the temperature-sensitive polymorphism, p.R402Q, suggesting the diagnosis of oculocutaneous albinism type 1 (OCA1). At age 8 years, there was significant attenuation of both scotopic and photopic ERG responses. Genetic re-analysis led to the identification of a homozygous mutation, c.3213dupC, in the COL18A1 gene, thus confirming the diagnosis of Knobloch syndrome. Our patient with Knobloch syndrome developed abnormal ERG responses similar to those found in col18a1 knockout mice. Thus, we have documented progressive attenuation of the scotopic and photopic responses in KS.

  6. A unique panic-disorder presentation among Khmer refugees: the sore-neck syndrome.

    Science.gov (United States)

    Hinton, D; Um, K; Ba, P

    2001-09-01

    This article describes a previously unreported cultural syndrome among Khmer refugees. This common presentation of distress centers on the complaint of a sore neck, the sufferer fearing that wind-and-blood pressure may burst the vessels in this area. During an acute episode, a Khmer endures many--if not all--of the following neck-and-head complaints: headache, blurry vision, a buzzing in the ear, and dizziness. While in the throes of the sore-neck attack, the patient frequently experiences palpitations as well as other symptoms of autonomic arousal, such as diaphoresis, shortness of breath, and trembling. A sufferer of sore-neck episodes often meets panic disorder criteria. In a clinic survey, thirty-five out of eighty-five patients (41%) were found to currently suffer the "sore-neck syndrome" (i.e., to have endured at least one episode in the last month), with almost all of these thirty-five patients (80%) fearing death during the acute event. The sore-neck syndrome represents a common and important way in which distress becomes embodied. The clinician must learn this body language; otherwise, the patient's communication of psychic, interpersonal, and physical pain goes unheard--and grave somatic suffering and disability unattended to--discounted as puzzling somatic complaints and unreasonable obsessionalism about blood pressure.

  7. Pick and Alzheimer diseases: a rare comorbidity presenting as corticobasal syndrome.

    Science.gov (United States)

    Rusina, Robert; Pazdera, Ladislav; Kulišťák, Petr; Vyšata, Oldřich; Matěj, Radoslav

    2013-12-01

    We describe a patient with corticobasal syndrome in whom neuropathological examination on autopsy revealed Pick and Alzheimer diseases in comorbidity. Corticobasal degeneration is a tauopathy usually associated with asymmetric parkinsonism, parietal lobe involvement, and cognitive impairment. Corticobasal syndrome is the clinical presentation of corticobasal degeneration without neuropathological confirmation. A 66-year-old right-handed man slowly developed speech difficulties, right-hand clumsiness, and forgetfulness. His speech apraxia progressed to mutism with preserved comprehension, and his clumsiness progressed to severe apraxia involving both hands. He developed behavioral changes and severe amnesia. All of these features were consistent with corticobasal syndrome. His loss of episodic, verbal, and visuospatial memory suggested Alzheimer disease; however, beyond his frontotemporal neuropsychological profile, he had few symptoms characteristic of frontal lobe dementia. Magnetic resonance imaging scans showed worsening temporal, frontal, and parietal atrophy, predominant in the left hemisphere. Neuropathological examination at autopsy revealed abundant neuritic plaques and neurofibrillary tangles consistent with fully developed Alzheimer disease, as well as numerous intraneuronal Pick bodies in the frontotemporal lobes. Our findings confirm the importance of clinical and neuropathological correlations in patients with atypical neurodegenerative dementias.

  8. Clinical Presentation, Treatment and Prognosis in Children with Reye-like Syndrome

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    Sukru Arslan

    2013-10-01

    Full Text Available We performed a retrospective study to explore the mortality rates and prognosis of the Reye like syndrome in patients treated at Konya Research and Education Hospital. Twenty two children with ages between 5 months and 7 years old were included in this study. All patients were treated with intensive supportive methods to manage body fluid, blood circulation, respiration, body temperature, and intracranial pressure. The main presenting features were history of fever (72.7%, profuse vomiting (63.6%, abnormal behavior and agitation (77.2%, and sudden onset of unconsciousness (100%. The etiologies of patients included viral illness, gastroenteritis, metabolic disorders, intoxication and hypoxia due to foreign body aspiration. No neurological deficit was seen in the children who survived the disease. In our patients the mortality rate was 31.8%. In conclusion, Reye like syndrome occurs only rarely but should be a part of the differential diagnosis of any encephalopathy of unknown origin and above all if there is a history of ingestion of drugs, previous viral infection and vomiting. Our treatment protocol is safe and effective in children with Reye like syndrome.

  9. Phospholipid Syndrome and Vasculitis as a presentation of Systemic Lupus Erythematosus. Case report.

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    Sila Castellón Mortera

    2013-09-01

    Full Text Available The systemic Lupus Erythematosus is presented, generally, as a poli articular syndrome, with a long period of fever nephritico or nephrotico; other clinical ways are: neuropsychiatry, vasculitis, etc. They appeared in a progressive manner; but in rare cases as a sickness debutant. It has not being reported in Sancti Spiritus Province patients in which matches the debut of the systemic Lupus Erythematosus with the manifestations of phospholipid syndrome. A Woman with 24 years of age is hospitalized having vasculitis, articular pains, thrombose in her right foot, detecting anticoagulante lupico and possitive Rematoideo factor with periferic pattern diffused in the Inmunoelectroforesis. 5 years later was hospitalized again with poliserositis. She had a positive evolution with a dose in a month of Intacglobin and anticoagulante treatment. Two years later she was hospitalized with articular pains proving she had livedo reticular on her left knee and Raynaud phenomenon on her foot. Beta Prebeta Index and high triglycerides. Lupico anticoagulant positive again. A treatment with Intacglobin and Prednisona was given to the patient with a better clinic without being hospitalized again. There is no evidence (at 17 years of age of a sickness debut of renal dissorder. It is about a Systemic Lupus Eritematoso which debut was a vasculitis and a Phospholipid Syndrome associated.

  10. Lymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE Syndrome.

    Science.gov (United States)

    Fernández-Ibieta, María; López-Gutiérrez, Juan Carlos

    2015-01-01

    PHACE syndrome is a neurocutaneous disorder characterized by large cervicofacial infantile hemangiomas and associated anomalies: posterior fossa brain malformation, hemangioma, arterial cerebrovascular anomalies, coarctation of the aorta and cardiac defects, and eye/endocrine abnormalities of the brain. When ventral developmental defects (sternal clefting or supraumbilical raphe) are present the condition is termed PHACE. In this report, we describe three PHACE cases that presented unique features (affecting one of the organ systems described for this syndrome) that have not been described previously. In the first case, a definitive PHACE association, the patient presented with an ipsilateral mesenteric lymphatic malformation, at the age of 14 years. In the second case, an anomaly of the posterior segment of the eye, not mentioned before in PHACE literature, a retinoblastoma, has been described. Specific chemotherapy avoided enucleation. And, in the third case, the child presented with an unusual midline frontal bone cleft, corresponding to Tessier 14 cleft. Two patients' hemangiomas responded well to propranolol therapy. The first one was followed and treated in the pre-propranolol era and had a moderate response to corticoids and interferon.

  11. Lymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE Syndrome

    Directory of Open Access Journals (Sweden)

    María Fernández-Ibieta

    2015-01-01

    Full Text Available PHACE syndrome is a neurocutaneous disorder characterized by large cervicofacial infantile hemangiomas and associated anomalies: posterior fossa brain malformation, hemangioma, arterial cerebrovascular anomalies, coarctation of the aorta and cardiac defects, and eye/endocrine abnormalities of the brain. When ventral developmental defects (sternal clefting or supraumbilical raphe are present the condition is termed PHACE. In this report, we describe three PHACE cases that presented unique features (affecting one of the organ systems described for this syndrome that have not been described previously. In the first case, a definitive PHACE association, the patient presented with an ipsilateral mesenteric lymphatic malformation, at the age of 14 years. In the second case, an anomaly of the posterior segment of the eye, not mentioned before in PHACE literature, a retinoblastoma, has been described. Specific chemotherapy avoided enucleation. And, in the third case, the child presented with an unusual midline frontal bone cleft, corresponding to Tessier 14 cleft. Two patients’ hemangiomas responded well to propranolol therapy. The first one was followed and treated in the pre-propranolol era and had a moderate response to corticoids and interferon.

  12. Ectopic adrenocorticotropic hormone syndrome in a case of duodenal neuroendocrine tumor presenting with liver metastasis

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    J Khare

    2018-01-01

    Full Text Available Ectopic adrenocorticotropic hormone (ACTH syndrome is an uncommon disorder and comprises about 15% of all patients with Cushing's syndrome (CS. Duodenal carcinoids are rare, indolent tumors usually associated with a benign progression. We hereby report a rare case of CS resulting from ectopic ACTH secretion from a duodenal neuroendocrine tumor (NET presenting with liver metastasis. A 37-year-old female presented with abdominal discomfort and dyspepsia of 1-month duration. Ultrasound abdomen suggested a well-defined hypoechoic lesion in the left lobe of the liver, suggestive of neoplasia. On clinical examination, she had Cushingoid features and persistent hypokalemia. Midnight ACTH and cortisol levels were grossly elevated at 1027 pg/ml (n < 46 pg/ml and 87.56 μg/dl (n < 7.5 μg/ml, respectively. Both overnight and high-dose dexamethasone suppression test confirmed nonsuppressed cortisol levels - 86.04 and 84.42 μg/dl (n < 1.8 μg/ml, respectively. Magnetic resonance imaging brain showed a structurally normal pituitary gland. Computed tomography scan of the abdomen revealed hepatic lesion with bilateral adrenal enlargement. A diagnosis of ectopic ACTH-dependent CS was made. Intraoperatively, a duodenal lesion of 0.5 cm × 0.5 cm was identified alongside an 8 cm × 6 cm exophytic lesion in segment IV of the liver. Frozen section of the duodenal lesion was positive for NET. She underwent a Whipple's surgery, cholecystectomy, and left hepatic lobectomy. Postoperatively, she showed clinical and biochemical remission. Herewith, we report the third case of duodenal carcinoid tumor presenting as ectopic ACTH syndrome and the first with liver metastasis.

  13. Giant Cell Arteritis in a 12-Year-Old Girl Presenting with Nephrotic Syndrome

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    Zeinab A. El-Sayed

    2014-01-01

    Full Text Available Giant cell arteritis (GCA is rare in children. The kidneys are generally spared. We present a case of GCA in a 12-year-old girl with severe headache and tender scalp especially over the right temporal area. The right superficial temporal artery was cord like and nodular and the pulsations were barely felt. Several small tender nodular swellings were felt in the occipital area. She had been previously diagnosed as a case of nephrotic syndrome due to underlying membranoproliferative glomerulonephritis. This report is aimed at drawing attention to this rare form of vasculitis in children aiming at decreasing its morbidities.

  14. Bloody tears: A rare presentation of munchausen syndrome case report and review

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    Mansour F Karadsheh

    2015-01-01

    Full Text Available We report a 16-year-old Jordanian female who presented with bleeding from both eyes of sudden onset. Her physical examination was remarkable for blood pouring from both eyes, and normal otherwise examination including eye and nose examination. During hospital stay, it was noted that "bleeding" occurred only when alone in the room. She later was seen to prick her finger tips of the left hand with her right hand using a hair clip. She denied any psychological problems, and later did not show for follow-up. Munchausen syndrome as a cause of bleeding is discussed.

  15. Bloody tears: a rare presentation of munchausen syndrome case report and review.

    Science.gov (United States)

    Karadsheh, Mansour F

    2015-01-01

    We report a 16-year-old Jordanian female who presented with bleeding from both eyes of sudden onset. Her physical examination was remarkable for blood pouring from both eyes, and normal otherwise examination including eye and nose examination. During hospital stay, it was noted that "bleeding" occurred only when alone in the room. She later was seen to prick her finger tips of the left hand with her right hand using a hair clip. She denied any psychological problems, and later did not show for follow-up. Munchausen syndrome as a cause of bleeding is discussed.

  16. Seminoma in a Man with Russell-Silver Syndrome Presenting with Testicular Torsion

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    Satoshi Funada

    2016-01-01

    Full Text Available Russell-Silver syndrome (RSS is a type of primordial dwarfism. Only one case of testicular cancer in RSS has been reported, the pathology of which was nonseminoma. Here, we report a case of seminoma in a 36-year-old man who was diagnosed with RSS at birth. The seminoma was diagnosed when the patient presented with testicular torsion. This is the first report of testicular seminoma in an RSS patient in the literature. We also discussed the correlation between seminoma and RSS.

  17. A Case of Multiple Sclerosis Presenting as Eight and Half Syndrome.

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    Rajiv Raina

    2013-01-01

    Full Text Available Multiple sclerosis (MS is a chronic disease characterized by inflammation, demyelination, gliosis (scarring, and neuronal loss; the course can be relapsing-remitting or progressive. Manifestations of MS vary from a benign illness to a rapidly evolving and incapacitating disease requiring profound lifestyle adjustments. We report a 24 year old female who presented with right internuclear ophthalmoplegia with right lower motor neuron facial nerve palsy which is called eight and half syndrome. The etiology in our patient was multiple sclerosis which was confirmed by radio-imaging studies. Patient improved on pulse therapy of methyl prednisolone and tapering dose of steroids.

  18. Long QTc Syndrome Type 2 Presenting in a Postpartum Patient on Medroxyprogesterone

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    John Kern

    2014-01-01

    Full Text Available Introduction. Congenital long QT syndrome type 2 (LQTS2 is a rare inherited cardiac abnormality resulting in increased risk of polymorphic ventricular tachycardia (PVT. Case Description. A 21-year-old postpartum female presented with syncopal episode after phone alarm. She was noted to have PVT on telemetry monitoring in the emergency department. EKG revealed QTc of 530. The patient’s only medication was medroxyprogesterone. She ultimately received a dual chamber pacemaker with ICD. Discussion. LQTS2 is associated with alarm sounds as a precipitating factor. Postpartum hormonal shifts as well as medroxyprogesterone have significant effect on native QTc duration.

  19. Hashimoto's thyroiditis presenting as Hoffman's syndrome, rhabdomyolysis and acute kidney injury.

    Science.gov (United States)

    Ahmed, Gasim Salaheldin; Zaid, Hassan Musa; Moloney, Manus

    2014-07-04

    An otherwise healthy young man presented with gradual progressive fatigue for the past 12 months disturbing his daily activities. Clinical examination revealed marked generalised muscular hypertrophy including the temporalis muscles bilaterally. Investigation revealed that the patient was grossly hypothyroid due to Hashimoto's thyroiditis with rhabdomyolysis and acute kidney injury. The finding of muscle weakness and pseudohypertrophy in association with hypothyroidism is called Hoffman's syndrome. The patient was hydrated and thyroxine replacement initiated. On follow-up, the patient showed clinical as well as biochemical improvement. 2014 BMJ Publishing Group Ltd.

  20. Antiphospholipid Syndrome in a Pregnant Female Presenting with Severe Thrombocytopenia and Bleeding

    Directory of Open Access Journals (Sweden)

    Kunal Mahajan

    2015-01-01

    Full Text Available The antiphospholipid antibody syndrome (APS is defined by the persistent presence of antiphospholipid antibodies in patients with recurrent venous or arterial thromboembolism or pregnancy morbidity. Antithrombotic therapy is the mainstay of treatment given the high risk of recurrent thromboembolism that characterizes this condition. Despite the prothrombotic nature of APS, thrombocytopenia is present in a proportion of patients, which can complicate management and limit the use of antithrombotic therapy. The mechanism of APS-associated thrombocytopenia is multifactorial and its relation to thrombotic risk is poorly characterized. The presence of thrombocytopenia does not appear to reduce thrombotic risk in patients with APS, who can develop thromboembolic complications necessitating antithrombotic treatment. In these cases, treatment of the thrombocytopenia may be necessary to facilitate administration of antithrombotic agents. We present such a pregnant lady with history of recurrent pregnancy losses who presented with severe thrombocytopenia and bleeding manifestations, who was subsequently diagnosed to have antiphospholipid antibody syndrome. She was initially managed with steroids and when her platelet counts improved, antithrombotic therapy was started. She delivered an uneventful and successful pregnancy outcome without any complications during follow-up.

  1. Evaluation of Asperger Syndrome in Youth Presenting to a Gender Dysphoria Clinic.

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    Shumer, Daniel E; Reisner, Sari L; Edwards-Leeper, Laura; Tishelman, Amy

    2016-10-01

    There is evolving evidence that children and adolescents with gender dysphoria have higher-than-expected rates of autism spectrum disorder (ASD), yet clinical data on ASD among youth with gender dysphoria remain limited, particularly in North America. This report aims to fill this gap. We conducted a retrospective review of patient chart data from 39 consecutive youth ages 8 to 20 years (mean age 15.8 years, natal male: n = 22, natal female: n = 17) presenting for evaluation at a multidisciplinary gender clinic in a large U.S. pediatric hospital from 2007 to 2011 to evaluate the prevalence of ASD in this patient population. Overall, 23.1% of patients (9/39) presenting with gender dysphoria had possible, likely, or very likely Asperger syndrome as measured by the Asperger Syndrome Diagnostic Scale (ASDS). These findings are consistent with growing evidence supporting increased prevalence of ASD in gender dysphoric children. To guide provision of optimal clinical care and therapeutic intervention, routine assessment of ASD is recommended in youth presenting for gender dysphoria.

  2. To immunosuppress or not: Behcet's syndrome presenting as an eosinophilic pleural effusion

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    Shakti Kumar Bal

    2017-01-01

    Full Text Available Etiologic diagnosis of an eosinophilic pleural effusion (EPE presents a diagnostic challenge when intrapleural air and blood have been ruled out as its proximate causes. Among the causes of EPE, those that require immunosuppression for the underlying disease include connective tissue diseases, sarcoidosis, vasculitis, and eosinophilic pneumonia. We present a case of clinically suspected Behcet's syndrome based on a 10-year history of recurrent multiple oral ulcers and human leukocyte antigen-B51 positivity who presented with only an EPE. Computed tomography pulmonary angiogram ruled out central thoracic vein thrombosis but was inconclusive in ruling out a subsegmental pulmonary embolism. The patient declined immunosuppressants and while on follow-up developed bilateral extensive acute lower limb deep venous thrombosis and pulmonary embolism. Upper infrarenal inferior vena cava demonstrated chronic thrombosis suggestive of its antecedent role in pulmonary embolism-related EPE during the first instance. Behcet's syndrome-related EPE can be associated with venous thromboembolism, and immunosuppressive therapy prevents the subsequent thrombotic episodes.

  3. Unusual presentation of Takayasu′s arteritis as posterior reversible encephalopathy syndrome

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    Syed Ahmed Zaki

    2011-01-01

    Full Text Available Takayasu′s arteritis is a chronic, idiopathic, inflammatory disease primarily affecting aorta and its branches. It mainly affects young females in the age group of 10-30 years. Various atypical presentations of Takayasu′s arteritis have been described in children. These atypical presentations can cause delayed diagnosis resulting in increased morbidity and mortality. Posterior reversible encephalopathy syndrome (PRES is a neuroradiologic condition associated with headache, seizures, altered sensorium, visual disturbances, and characteristic lesions on neuroimaging. We report a child with Takayasu′s arteritis who presented a posterior reversible encephalopathy syndrome. He also had associated abdominal tuberculosis for which anti-tuberculous treatment was started. PRES was diagnosed by magnetic resonance imaging with fluid-attenuated inversion recovery sequences. The child was started on nifedipine and propranolol. The child regained his consciousness within 48 h of admission. Prompt treatment of hypertension led to rapid reversal of neurological symptoms. In view of hypertension a computed tomography aortogram was done, which showed features suggestive of high grade (>75% focal proximal left renal artery stenosis. EULAR (European League Against Rheumatism/PReS (Paediatric Rheumatology European Society consensus criteria was used for the diagnosis of Takayasu′s arteritis in our patient. Percutaneous transluminal balloon angioplasty of the stenotic left renal artery was performed. Post-angioplasty, nifedipine was gradually omitted and oral propranolol was continued.

  4. Conn’s Syndrome, Subclinical Cushing’s Syndrome and Thyrotoxicosis Presenting as Hypokalemic Periodic Paralysis: A Case Report

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    İnan Anaforoğlu

    2009-12-01

    Full Text Available Thyrotoxicosis and primary hyperaldosteronism both cause hypokalemic periodic paralysis. Here we report a 51-year-old woman presenting with severe hypokalemia due to both thyrotoxicosis and primary hyperaldosteronism. At first presentation, she had a potassium level of 1.5 mEq/L and thyrotoxicosis due to a hot nodule, and was diagnosed as having thyrotoxic hypokalemic periodic paralysis. After treatment with propylthiouracil and potassium, she completely regained muscle strength. Nevertheless, a decrease in potassium level was observed again when the replacement of potassium was discontinued. The further diagnostic work-up of the patient, who had also history of hypertention, revealed primary hyperaldosteronism and subclinical Cushing’s syndrome due to adrenal adenoma on the left side. Whether thyrotoxicosis contributed to the hypokalemic periodic paralysis in this patient is a matter of debate. Adrenal hyperfunction should be considered in all patients with hypertension and hypokalemia regardless of the presentation of the case. Turk Jem 2009; 13: 87-90

  5. Toxoplasmosis of spinal cord in acquired immunodeficiency syndrome patient presenting as paraparesis: A rare entity

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    Sachin R Agrawal

    2014-01-01

    Full Text Available Although brain has been the most common site for toxoplasma infection in acquired immunodeficiency syndrome patients, involvement of spinal cord by toxoplasma has been rarely found. Spinal cord toxoplasmosis can present as acute onset weakness in both lower limbs associated with sensory and bladder dysfunction. A presumptive diagnosis can be made in patients with CD4 count <100/mm 3 based on a positive serum Toxoplasma gondii IgG antibodies, no recent prophylaxis against toxoplasmosis, intramedullary ring enhancing lesion in spinal cord supported by similar lesions in brain parenchyma. Institutions of antitoxoplasma treatment in such patients result in prompt clinical response and therefore avoiding the need of unnecessary invasive diagnostic tests. Here, we report a case of toxoplasmic myelitis in immunocompromised patient presenting as myelopathy who showed significant clinical improvement after starting antitoxoplasma treatment. Hence toxoplasmic myelitis should be considered in toxoplasma seropositive immunocompromised patients presenting as myelopathy and imaging studies showing ring enhancing intramedullary lesion.

  6. Herlyn Werner Wunderlich syndrome: an unusual presentation of acute vaginal pain.

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    Beer, William M; Carstairs, Shaun D

    2013-10-01

    Herlyn Werner Wunderlich Syndrome (HWWS) is a congenital abnormality of the Müllerian duct system resulting in uterovaginal duplication, obstructive hemivagina, and ipsilateral renal agenesis. It typically presents shortly after menarche with gradual onset of progressive pelvic pain. We report a case of a 19-year-old female who presented to the Emergency Department with sudden onset of severe vaginal pain that was determined to be due to hematocolpos; imaging confirmed the diagnosis of HWWS. To the best of our knowledge abrupt onset of vaginal pain due to HWWS has not been reported previously. We present this case to increase awareness among emergency physicians of this rare and interesting entity. Published by Elsevier Inc.

  7. A delayed presentation of bilateral leg compartment syndrome following non-stop dancing.

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    Jefferies, James Gordon; Carter, Tom; White, Tim Oliver

    2015-03-18

    We present the case of a young man with a 48 h delayed presentation of bilateral lower limb acute compartment syndrome (ACS) affecting the anterior compartments following an extended period of dancing at a music festival. On making the diagnosis of ACS, the patient was immediately taken to theatre for fasciotomies and compartmental decompression. Repeat look fasciotomies revealed further necrosis to the muscles of the anterior compartments bilaterally and, effectively, all the muscle bellies within the anterior compartments were excised. The patient has been left with a significant functional deficit and disability. This case highlights the importance of timely diagnosis of ACS as delay in presentation can impact significantly on subsequent functional outcome and quality of life. 2015 BMJ Publishing Group Ltd.

  8. Twin–Twin Transfusion Syndrome Presenting as Polyhydramnios in Both Fetuses Secondary to Spontaneous Microseptostomy

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    David N. Hackney

    2013-10-01

    Full Text Available The presence of polyhydramnios and oligohydramnios is pathognomonic for twin–twin transfusion syndrome (TTTS. However, polyhydramnios of both twins can exist in TTTS in the setting of a septostomy of the dividing membrane. In prior reported cases of dual polyhydramnios TTTS, the septostomy was identified through either ultrasound or fetoscopy thus helping to establish the diagnosis of TTTS with an unusual presentation. The presented case is a set of monochorionic, diamniotic twins who presented initially with dual polyhydramnios. Subsequent ultrasound and clinical and pathologic findings were otherwise consistent with TTTS. Unlike prior reported cases, a septostomy of the dividing membrane was never identified with ultrasound or even on post delivery placental examination. However, microseptostomies were demonstrated due to the transfer of indigo carmine between the amniotic sacs at amniocentesis. Thus in the setting of TTTS concern, the diagnosis should be considered with dual polyhydramnios even if a septostomy cannot be identified.

  9. Twin-twin transfusion syndrome presenting as polyhydramnios in both fetuses secondary to spontaneous microseptostomy.

    Science.gov (United States)

    Hackney, David N; Khalek, Nahla; Moldenhauer, Julie; Ozcan, Tulin

    2013-10-01

    The presence of polyhydramnios and oligohydramnios is pathognomonic for twin-twin transfusion syndrome (TTTS). However, polyhydramnios of both twins can exist in TTTS in the setting of a septostomy of the dividing membrane. In prior reported cases of dual polyhydramnios TTTS, the septostomy was identified through either ultrasound or fetoscopy thus helping to establish the diagnosis of TTTS with an unusual presentation. The presented case is a set of monochorionic, diamniotic twins who presented initially with dual polyhydramnios. Subsequent ultrasound and clinical and pathologic findings were otherwise consistent with TTTS. Unlike prior reported cases, a septostomy of the dividing membrane was never identified with ultrasound or even on post delivery placental examination. However, microseptostomies were demonstrated due to the transfer of indigo carmine between the amniotic sacs at amniocentesis. Thus in the setting of TTTS concern, the diagnosis should be considered with dual polyhydramnios even if a septostomy cannot be identified.

  10. A Prognostic Model for Development of Profound Shock among Children Presenting with Dengue Shock Syndrome.

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    Phung Khanh Lam

    Full Text Available To identify risk factors and develop a prediction model for the development of profound and recurrent shock amongst children presenting with dengue shock syndrome (DSS.We analyzed data from a prospective cohort of children with DSS recruited at the Paediatric Intensive Care Unit of the Hospital for Tropical Disease in Ho Chi Minh City, Vietnam. The primary endpoint was "profound DSS", defined as ≥2 recurrent shock episodes (for subjects presenting in compensated shock, or ≥1 recurrent shock episodes (for subjects presenting initially with decompensated/hypotensive shock, and/or requirement for inotropic support. Recurrent shock was evaluated as a secondary endpoint. Risk factors were pre-defined clinical and laboratory variables collected at the time of presentation with shock. Prognostic model development was based on logistic regression and compared to several alternative approaches.The analysis population included 1207 children of whom 222 (18% progressed to "profound DSS" and 433 (36% had recurrent shock. Independent risk factors for both endpoints included younger age, earlier presentation, higher pulse rate, higher temperature, higher haematocrit and, for females, worse hemodynamic status at presentation. The final prognostic model for "profound DSS" showed acceptable discrimination (AUC=0.69 for internal validation and calibration and is presented as a simple score-chart.Several risk factors for development of profound or recurrent shock among children presenting with DSS were identified. The score-chart derived from the prognostic models should improve triage and management of children presenting with DSS in dengue-endemic areas.

  11. A Case of Gorlin-Goltz Syndrome Presented with Psychiatric Features

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    Amir Mufaddel

    2014-01-01

    Full Text Available We report a case of a 34-year-old male who presented with an acute onset of pleomorphic psychiatric features. Upon examination we later diagnosed him with Gorlin-Goltz syndrome based on clinical and radiological findings that are characteristic for this rare autosomal dominant syndrome. His psychiatric manifestations included irritability, aggressive behavior, labile mood, hallucinations, paranoid delusions, and transient cognitive impairment. His past history indicated surgical excision of pigmented lesion in the left lower eyelid which turned out to be a basal cell carcinoma. His past visits to dermatology clinics indicated pitted keratosis involving hands, callosities, and seborrheic dermatitis. There were numerous palmar pits, and Brain CT Head scan revealed extensive calcification along falx cerebri and around the cerebellar vermis. He had low (20 ng/L vitamin D level and high parathyroid hormone level. The patient improved using antipsychotic medications and vitamin D supplementations for symptomatic management and was discharged with a plan for multispecialty outpatient follow-up. This case highlights the importance of considering rare organic etiologies in the differential diagnosis of patients presenting with psychiatric symptoms. This is of vital importance for early intervention to prevent complications and for better outcomes of the coexistent diseases.

  12. Late presentation of superior mesenteric artery syndrome following scoliosis surgery: a case report

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    Tsirikos Athanasios I

    2008-01-01

    Full Text Available Abstract Introduction Obstruction of the third part of the duodenum by the superior mesenteric artery (SMA can occur following surgical correction of scoliosis. The condition most commonly occurs in significantly underweight patients with severe deformities during the first few days to a week following spinal surgery. Case presentation We present the atypical case of a patient with normal body habitus and a 50° adolescent idiopathic thoracolumbar scoliosis who underwent anterior spinal arthrodesis with instrumentation and developed SMA syndrome due to progressive weight loss several weeks postoperatively. The condition manifested with recurrent vomiting, abdominal distension, marked dehydration, and severe electrolyte disorder. Prolonged nasogastric decompression and nasojejunal feeding resulted in resolution of the symptoms with no recurrence at follow-up. The spinal instrumentation was retained and a solid spinal fusion was achieved with good spinal balance in both the coronal and sagittal planes. Conclusion SMA syndrome can occur much later than previously reported and with potentially life-threatening symptoms following scoliosis correction. Early recognition of the condition and institution of appropriate conservative measures is critical to prevent the development of severe complications including the risk of death.

  13. A Case of Munchausen Syndrome Presenting with Hematemesis: A Case Report.

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    Aadil, Muhammad; Faraz, Aniqa; Anwar, Muhammad Jahanzaib; Shoaib, Maria; Nasir, Usama; Akhlaq, Anum

    2017-06-13

    Munchausen syndrome (MS) was first reported in 1951 by Richard Alan John Asher as a factitious disorder. It is a condition in which the patient intentionally produces symptoms to assume a sick role and gain medical attention. Underdiagnosis of this disorder results in the unnecessary use of medical resources, i.e. unnecessary medical tests and evaluations. This makes it one of the most challenging diagnosis in any medical set up. We present this rare case of a patient with chronic factitious disorder who presented to the emergency with hematemesis. The patient was successfully treated with psychotherapy with no recurrence. It is the need of the hour to create awareness amongst the medical and nonmedical population about factitious disorders so that they can easily be diagnosed and treated with efficiency. Further research is needed to find the risks leading to this syndrome and discover the cultural and social aspects of this disease, which may help us explore treatment strategies and avoid unnecessary tests and treatment.​.

  14. Predicting early transition from sub-syndromal presentations to major mental disorders.

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    Cross, Shane P M; Scott, Jan; Hickie, Ian B

    2017-09-01

    Transition from at-risk state to full syndromal mental disorders is underexplored for unipolar and bipolar disorders compared with psychosis. Prospective, trans-diagnostic study of rates and predictors of early transition from sub-threshold to full syndromal mental disorder. One-year outcome of 243 consenting youth aged 15-25 years with a sub-syndromal presentation of a potentially severe mental disorder. Survival analysis and odds ratio (OR) for predictors of transition identified from baseline clinical and demographic ratings. About 17% (n=36) experienced transition to a major mental disorder. Independent of syndromal diagnosis, transition was significantly more likely in individuals who were NEET (not in education, employment or training), in females and in those with more negative psychological symptoms (e.g. social withdrawal). NEET status and negative symptoms are modifiable predictors of illness trajectory across diagnostic categories and are not specific to transition to psychosis. I.B.H. has been a Commissioner in Australia's National Mental Health Commission since 2012. He was a board member of headspace: National Youth Mental Health Foundation until January 2012. He has led a range of community-based and pharmaceutical industry-supported depression awareness and education and training programmes. He has led projects for health professionals and the community supported by governmental, community agency and pharmaceutical industry partners (Wyeth, Eli Lilly, Servier, Pfizer, AstraZeneca) for the identification and management of depression and anxiety. He has received honoraria for presentations of his own work at educational seminars supported by a number of non-government organisations and the pharmaceutical industry (including Servier, Pfizer, AstraZeneca and Eli Lilly). He is a member of the Medical Advisory Panel for Medibank Private and also a board member of Psychosis Australia Trust. He leads an investigator-initiated study of the effects of

  15. Clinical presentation of different severities of hemorrhagic fever with renal syndrome: How to recognize it

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    Laušević Mirjana

    2012-01-01

    Full Text Available Background/Aim. Besides viral serotype, HLA haplotype and cytokine genes polymorphism are associated with clinical presentation of hemorrhagic fever with renal syndrome. Since these analyses are unavailable in routine clinical practice, the aim of this study was to assess clinical, laboratory and radiographic findings associated with clinical presentation of disease severity. Methods. A total of 30 patients (27 men and 3 women, average age 40 ± 14.9 years, treated for hemorrhagic fever with renal syndrome from January 1, 1999 to December 31, 2009 in Clinical Center of Serbia, were included in the study. Nine patients (30% had mild, 14 (46.7% moderate and 7 (23.3% severe form of the disease; 24 (80% recovered, 6 (20% died in the acute phase of the illness, and 19 patients (63.3% required hemodialysis. Results. The average titer of antiviral antibodies in patients infected with Belgrade serotype virus were significantly higher in those with severe clinical presentation. Hypotension, anuria, macrohaematuria, pulmonary infiltration, pleural effusion, hepatomegalia and positive meningeal signs were more frequent in the patients with severe form of the disease. Statistically significant differences between groups with mild, moderate and severe clinical picture were found in serum total protein, albumin, calcium, glutamate pyruvate and glutamate oxaloacetate transaminase on admittance; serum creatinine and phosphorus concentration on day 14 and day 21; serum sodium and calciums on day 14; hemoglobine concentration on day 21. A statistically significant correlation was found between clinical presentation of the disease severity and platelet count, white blood cell count, hemoglobine concentration, serum calcium and serum transaminases on admittance. Multivariate analysis identified variables` combinations associated with clinical presentation of the disease. Conclusion. Our study confirmed that we can distinguish patients who will manifest different

  16. Ectopic Cushing syndrome associated with thymic carcinoid tumor as the first presentation of MEN1 syndrome-report of a family with MEN1 gene mutation.

    Science.gov (United States)

    Hasani-Ranjbar, Shirin; Rahmanian, Masoud; Ebrahim-Habibi, Azadeh; Soltani, Akbar; Soltanzade, Akbar; Mahrampour, Elnaz; Amoli, Mahsa M

    2014-06-01

    Multiple endocrine neoplasia type 1(MEN1) is an autosomal dominant syndrome. Although thymic carcinoid tumor is recognized as a part of MEN1 syndrome but functioning thymic carcinoid tumor as the first presentation of the MEN1 seems to be very rare. In this report, we present a 29-year-old male who developed ectopic Cushing syndrome secondary to thymic carcinoid tumor and was diagnosed as MEN1 syndrome 2 years later. Further evaluation revealed the presence of carcinoid tumor and other MEN 1 manifestations in several other member of family. Genetic evaluation showed presence of a previously reported mutation in exon 10(R527X) of MEN1 gene in these patients. This presentation showed that thymic neuroendocrine tumor could be the first manifestation of the MEN1 syndrome and it might be diagnosed as a dominant manifestation of this syndrome in a family. We suggest biochemical or genetic screening for MEN-1 syndrome for patients with thymic carcinoid.

  17. Persistent hiccups in cancer patient: A presentation of syndrome of inappropriate antidiuretic hormone induced hyponatremia

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    Alka Goyal

    2013-01-01

    Full Text Available Hyponatremia is quite common in cancer patients, but the presentation as persistent hiccups is not common. Literature over hiccups development due to hyponatremia is quite scant. Hiccups are of various types, persistent hiccups are those that last more than 48 h and remains less than 1 month. Hiccups lasting more than 24 h require investigation for an underlying organic etiology, with hyponatremia included in the differential diagnosis. This paper discusses a carcinoma lip patient presented with the persistent hiccups and unconsciousness post-operatively. The patient was initially responded with trials of both metoclopramide and Ryle′s tube insertion, but eventually, his hiccups resolved only after treatment of hyponatremia. Patient′s clinical course and investigations suggest an etiology of syndrome of inappropriate antidiuretic hormone (SIADH secretion behind the hyponatremia. Study suggested that SIADH linked hyponatremia should be considered in the differential diagnosis of cancer patients with refractory hiccups.

  18. Testicular swelling: a rare manifestation of chronic lymphocytic leukemia presenting with Richter's syndrome.

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    Jha, Bhawna; Dass, Jasmita; Sachdev, Ritesh; Bhargava, Rahul

    2014-01-01

    Richter syndrome (RS) represents the clinico-pathologic transformation of indolent lymphomas to an aggressive lymphoma, most commonly diffuse large B-cell lymphoma. Majority of the patients have a previous diagnosis of Chronic Lymphocytic Leukemia and the median time to transformation is 2-4 years. De novo RS is extremely uncommon. RS frequently arises in the lymph nodes or bone marrow and rarely presents with extra nodal involvement, common sites being the gastrointestinal tract, eye, central nervous system, lung and kidney. Involvement of testis by RS is extremely rare and we came across only one such reported case in the literature. We are reporting this case as our patient presented with de novo RS at an extremely uncommon extra nodal site, testis.

  19. Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome.

    Science.gov (United States)

    Woloszynek, Jill R; Rothbaum, Robert J; Rawls, Amy S; Minx, Patrick J; Wilson, Richard K; Mason, Philip J; Bessler, Monica; Link, Daniel C

    2004-12-01

    Shwachman-Diamond Syndrome (SDS) is a rare multisystem disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and metaphyseal chondrodysplasia. Recent studies show that mutations of SBDS, a gene of unknown function, are present in the majority of patients with SDS. In the present study, we show that most, but not all, patients classified based on rigorous clinical criteria as having SDS had compound heterozygous mutations of SBDS. Full-length SBDS protein was not detected in leukocytes of SDS patients with the most common SBDS mutations, consistent with a loss-of-function mechanism. In contrast, SBDS protein was expressed at normal levels in SDS patients without SBDS mutations. These data confirm the absence of SBDS mutations in this subgroup of patients and suggest that SDS is a genetically heterogeneous disorder. The presence (or absence) of SBDS mutations may define subgroups of patients with SDS who share distinct clinical features or natural history.

  20. Eosinophilic Granulomatosis with Polyangiitis Presenting as Acute Polyneuropathy Mimicking Guillain-Barre Syndrome

    Science.gov (United States)

    Camara-Lemarroy, Carlos R.; Infante-Valenzuela, Adrian; Villareal-Montemayor, Hector J.; Soto-Rincon, Carlos A.; Davila-Olalde, Javier A.; Villareal-Velazquez, Hector J.

    2015-01-01

    Eosinophilic granulomatosis with polyangiitis (EGPA) is a small-vessel vasculitis associated with antineutrophil cytoplasmic antibodies (ANCAs) which commonly affects the peripheral nervous system. A 38-year-old female with a history of asthma presented with a 2-week history of bilateral lower extremity paresthesias that progressed to symmetric ascending paralysis. Nerve conduction studies could not rule out Guillain-Barre syndrome (GBS) and plasmapheresis was considered. Her blood work revealed marked eosinophilia (>50%), she had purpuric lesions in her legs, and a head magnetic resonance image showed evidence of pansinusitis. Coupled with a history of asthma we suspected EGPA-associated neuropathy and started steroid treatment. The patient showed rapid and significant improvement. ANCAs were later reported positive. ANCA-associated vasculitides present most often as mononeuritis multiplex, but they can mimic GBS and should always be considered in the differential diagnosis, since the treatment strategies for these conditions are radically different. PMID:26199772

  1. Eosinophilic Granulomatosis with Polyangiitis Presenting as Acute Polyneuropathy Mimicking Guillain-Barre Syndrome

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    Carlos R. Camara-Lemarroy

    2015-01-01

    Full Text Available Eosinophilic granulomatosis with polyangiitis (EGPA is a small-vessel vasculitis associated with antineutrophil cytoplasmic antibodies (ANCAs which commonly affects the peripheral nervous system. A 38-year-old female with a history of asthma presented with a 2-week history of bilateral lower extremity paresthesias that progressed to symmetric ascending paralysis. Nerve conduction studies could not rule out Guillain-Barre syndrome (GBS and plasmapheresis was considered. Her blood work revealed marked eosinophilia (>50%, she had purpuric lesions in her legs, and a head magnetic resonance image showed evidence of pansinusitis. Coupled with a history of asthma we suspected EGPA-associated neuropathy and started steroid treatment. The patient showed rapid and significant improvement. ANCAs were later reported positive. ANCA-associated vasculitides present most often as mononeuritis multiplex, but they can mimic GBS and should always be considered in the differential diagnosis, since the treatment strategies for these conditions are radically different.

  2. Juvenile systemic lupus erythematosus and dermatomyositis associated with urticarial vasculitis syndrome: a unique presentation.

    Science.gov (United States)

    Macêdo, Patrícia A; Garcia, Carolina B; Schmitz, Monique K; Jales, Levi H; Pereira, Rosa M R; Carvalho, Jozélio F

    2012-11-01

    To report a case of triple association of juvenile systemic lupus erythematosus (SLE), juvenile dermatomyositis and urticarial vasculitis as well as a review of the relevant literature. A 12-year-old male patient diagnosed with overlap syndrome between SLE and juvenile dermatomyositis since 2004 evolved with erythematous plaques, which were compatible with an urticarial rash. Clinical, laboratory and histopathological findings indicated a diagnosis of urticarial vasculitis. The patient previously had a C1q deficiency. Using the established treatment with methylprednisolone (1 g/day for 3 days), increasing doses of deflazacort and introduction of a dapsone, as well as mycophenolate mofetil regimen, with the suspension of azathioprine resulted in complete resolution of skin lesions. Urticarial vasculitis can present in various diseases. In SLE, presentation of urticarial vasculitis in children is rarely found. The triple association of juvenile-onset SLE, juvenile dermatomyositis and urticarial vasculitis is unusual, and this is the first case described in literature.

  3. Diagnosing Aspergers syndrome in the elderly: a series of case presentations.

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    James, Ian Andrew; Mukaetova-Ladinska, Elizabeta; Reichelt, F Katharina; Briel, Ruth; Scully, Ann

    2006-10-01

    There are over 200,000 people in the UK diagnosed with Aspergers Syndrome (AS). Most of these are children and young adults, owing to the fact the disorder was established relatively recently. It can be argued, therefore, that there are many older adults who may have met the criteria for AS as children, but never received such a diagnosis due to the fact it had yet to be established. What happended to these people as they aged? This paper examines this issue in detail and presents five case studies of elderly individuals who the authors believe meet the criteria of AS. The work illustrates AS presentation in old age, the assessment problems and tools required to assess older people, and the implications of such formulations for clinical practice. Older patients with undiagnosed AS may currently be receiving inappropriate treatments. Greater awareness of AS in the older population would enable better management of such patients. Copyright (c) 2006 John Wiley & Sons, Ltd.

  4. Hemophagocytic Syndrome Associated with Hodgkin's Lymphoma First Presenting as Fever and Pancytopenia

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    Ramon Andrade Bezerra de Mello

    2010-01-01

    Full Text Available Background. Hemophagocytic syndrome (HPS is characterized by a hyperinflammatory reaction followed by alteration in cytotoxic function of Th1 lymphocytes and natural killer cells. We report a rare case of a patient that presented with fever and pancytopenia due to HPS associated with Hodgkin's lymphoma (HL. Case Report. A 69-year-old Caucasian woman was admitted presenting with complaints of fever, seizures, and low back pain that had lasted for two weeks. Laboratorial data showed pancytopenia. Bone marrow biopsy revealed infiltration by Reed-Sternberg cells and hemophagocytosis signs. Imaging studies showed mediastinal lymph nodes (stage IV B. She had been treated with ABVD (doxorubicin, bleomycin, vinblastine, and dacarbazine followed by a good response. Conclusion. HPS associated with HL is a very rare and lethal disease, with mortality rates of about 15% to 60%. The prompt diagnosis of the underlying lymphoma may be an important strategy for optimizing the clinical approach and outcome.

  5. An Adult Case of Bartter Syndrome Type III Presenting with Proteinuria

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    Eun Jung Cha

    2016-03-01

    Full Text Available Bartter syndrome (BS I–IV is a rare autosomal recessive disorder affecting salt reabsorption in the thick ascending limb of the loop of Henle. This report highlights clinicopathological findings and genetic studies of classic BS in a 22-year-old female patient who presented with persistent mild proteinuria for 2 years. A renal biopsy demonstrated a mild to moderate increase in the mesangial cells and matrix of most glomeruli, along with marked juxtaglomerular cell hyperplasia. These findings suggested BS associated with mild IgA nephropathy. Focal tubular atrophy, interstitial fibrosis, and lymphocytic infiltration were also observed. A genetic study of the patient and her parents revealed a mutation of the CLCNKB genes. The patient was diagnosed with BS, type III. This case represents an atypical presentation of classic BS in an adult patient. Pathologic findings of renal biopsy combined with genetic analysis and clinicolaboratory findings are important in making an accurate diagnosis.

  6. Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about

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    Amel Karaa

    2013-01-01

    Full Text Available The Ehlers Danlos syndromes (EDS comprise a group of connective tissue disorders characterized by tissue fragility of the skin, ligaments, blood vessels and internal organs. Variable degrees of clinical severity and organ involvement are due to the molecular and biochemical heterogeneity of this group of disorders and have led to classification into well-characterized subtypes that are extending with the discovery of new genes and overlapping syndrome. Types include classical EDS (EDS I/II, hypermobility EDS (EDS III, vascular EDS (EDS IV, kyphoscoliosis EDS (EDS VI, arthrochalasia (EDS VIIA, B and Dermatospraxis (EDS VIIC. Even to the well trained professional, the diagnosis of EDS remains a challenge due to overlapping symptoms and cases can remain without a well-defined classification. Life altering complications of this group of disorders include vascular and hollow organ rupture and ligamentous laxity leading to chronic dislocation with ensuing pain and long term disability. Patients initially present to the general practitioner who is expected to recognize the symptoms of EDS and to proceed with appropriate referral for definitive diagnosis and management to prevent devastating complications. In this paper, we describe a male with classical EDS complicated by devastating vascular and orthopedic events.

  7. Case report: Presentation of lacrimo-auriculodento- digital (LADD) syndrome in a young female patient.

    LENUS (Irish Health Repository)

    McKenna, G J

    2009-11-01

    BACKGROUND: Lacrimo-auriculo-dento-digital (LADD) syndrome (OMIM #149730) is an autosomal-dominant congenital disorder that can be caused by heterozygous mutations in the tyrosine kinase domains of the genes encoding fibroblast growth factor receptors 2 (FGFR2) and 3 (FGFR3), and has been found in association with a mutation in the FGF10 gene, which encodes an Fgfr ligand. Clinical signs vary, but the condition is characterised by involvement of the lacrimal and salivary systems, cup-shaped ears, hearing loss and dental abnormalities. Additional features may include involvement of the hands and feet with other body systems particularly the kidneys. CASE REPORT: Previous literature on the subject has been reviewed and this case is the first presentation of LADD syndrome in the Republic of Ireland, as a sporadic case in a 12-year-old girl who exhibited a range of dental and digital anomalies. TREATMENT: Her general medical practitioner managed her medical care whilst her oral care necessitated a multidisciplinary approach involving restorative and orthodontic elements. FOLLOW-UP: The initial restorative phase of treatment has successfully improved the appearance of the patient\\'s anterior teeth using direct resin composite build-ups.

  8. An MRI, SPECT and Neuropsychological Study of a Patient Presenting with Capgras Syndrome

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    J. Mackie

    1994-01-01

    Full Text Available A 25 year old male patient presented with the “delusion of doubles” (Capgras syndrome. The patient underwent detailed neuropsychological, single photon emission computed tomography (SPECT and magnetic resonance imaging (MRI investigations. The neuropsychological results indicated that he was of average premorbid intelligence, which was consistent with current estimates, and had a degree of everyday memory dysfunction which was below norms derived from healthy controls, but was average relative to schizophrenic norms. He demonstrated average or above average recognition memory for patterns, spaces or words, but exhibited a marked and disproportionate impairment in face recognition, performing at the 5th percentile. In addition he demonstrated markedly impaired performance on various tests of executive function. MRI scanning revealed no focal abnormality; slight ventricular dilatation was noted. SPECT scanning, however, revealed marked right/left asymmetries of tracer uptake, restricted to occipital and calcarine cortices. These asymmetries were well outside those derived from a cohort of healthy controls. These results are discussed in relation to current neuropsychological models of Capgras syndrome.

  9. The dark side of the QT interval. The Short QT Syndrome: pathophysiology, clinical presentation and management

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    I. Comelli

    2012-12-01

    Full Text Available A large number of studies has been carried out to investigate the pathophysiology and the clinical implications of QT interval prolongation in the ECG over recent years (1, 2, 3, 4, 5, 6. It was only in the last decade, however, that the scientists have focused on the specular aspects of the long QT syndrome (LQTS, and it is now well established that the abnormal shortening of the QT interval is associated with meaningful clinical consequences and adverse outcomes. The aim of the present article is to summarize knowledge and existing evidence about the Short QT Syndrome (SQTS. SQTS is a rare, albeit largely underdiagnosed, genetically determined disease, which is characterized by a high tendency to develop life-threatening arrhythmias. The two clinical landmarks of SQTS are the presence of a short QT interval (i.e., less than 320 ms in a structurally normal heart. The disease is now classified as a “channellopathy”, and is principally caused by a defective functioning of both potassium and calcium ion channels. The underlying genetic anomalies cause an abnormal ripolarization and a reduced refractoriness of myocardiocites. Pharmacologic treatments are mainly tailored to slow the conduction and to prolong the refractory period of myocardiocites. The implantable cardioverter and defibrillator (ICD is currently considered the therapeutic gold standard (7.

  10. Development of a partial Balint's syndrome in a congenitally deaf patient presenting as pseudo-aphasia.

    Science.gov (United States)

    Drane, Daniel L; Lee, Gregory P; Huthwaite, Justin S; Tirschwell, David L; Baudin, Brett C; Jurado, Miguel; Ghodke, Basavaraj; Marchman, Holmes B

    2009-05-01

    We present a 56 year-old, right-handed, congenitally deaf female who exhibited a partial Balint's syndrome accompanied by positive visual phenomena restricted to her lower right visual quadrant (e.g., color band, transient unformed visual hallucinations). Balint's syndrome is characterized by a triad of visuo-ocular symptoms that typically occur following bilateral parieto-occipital lobe lesions. These symptoms include the inability to perceive simultaneous events in one's visual field (simultanagnosia), an inability to fixate and follow an object with one's eyes (optic apraxia), and an impairment of target pointing under visual guidance (optic ataxia). Our patient exhibited simultanagnosia, optic ataxia, left visual field neglect, and impairment of all complex visual-spatial tasks, yet demonstrated normal visual acuity, intact visual fields, and an otherwise normal neurocognitive profile. The patient's visuo-ocular symptoms were noticed while she was participating in rehabilitation for a small right pontine stroke. White matter changes involving both occipital lobes had been incidentally noted on the CT scan revealing the pontine infarction. As the patient relied on sign language and reading ability for communication, these visuo-perceptual limitations hindered her ability to interact with others and gave the appearance of aphasia. We discuss the technical challenges of assessing a patient with significant barriers to communication (e.g., the need for a non-standardized approach, a lack of normative data for such special populations), while pointing out the substantial contributions that can be made by going beyond the standard neuropsychological test batteries.

  11. A case of Ross syndrome presented with Horner and chronic cough

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    Aslihan Baran

    2014-01-01

    Full Text Available Ross syndrome is a rare sweating disorder associated with Adie′s tonic pupil, decreased or diminished tendon reflex and unknown etiology. Although autonomic disturbances affecting sudomotor and vasomotor functions are seen commonly, they are rarely symptomatic. While Ross syndrome is typically characterized with dilated tonic pupil, it may be rarely manifested with miotic pupils (little old Adie′s pupil, which can make diagnosis difficult. In this article, we aim to specify the atypical clinical manifestations of syndrome by means of Ross syndrome manifested by autonomic symptoms, Horner syndrome, chronic cough together with bilateral little old Adie′s pupil.

  12. T1-nerve root neuroma presenting with apical mass and Horner's syndrome

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    Podnar Simon

    2007-03-01

    Full Text Available Abstract Background The appearance of dumbbell neuroma of the first thoracic root is extremely rare. The extradural component of a T1-dumbbell neuroma may present as an apical mass. The diagnosis of hand weakness is complex and may be delayed in T1-neuroma because of absence of the palpable cervical mass. One-stage removal of a T1-root neuroma and its intrathoracic extension demanded an extended posterior midline approach in the sitting position. Case presentation A 51-year old man had suffered a traumatic partial tendon rupture of his wrist flexor muscles 6 years ago. Since the incident he occasionally felt fullness and tenderness in the affected forearm with some tingling in his fingers bilaterally. During the last two years the hand weakness was continuous and hypotrophy of the medial flexor and intrinsic hand muscles had become apparent. Electrophysiological studies revealed an ulnar neuropathy in addition to mild median and radial nerve dysfunction, including a mild contralateral carpal tunnel syndrome. The diagnostic work-up for multiple mononeuropathy in the upper extremity was negative. Repeated electrophysiological studies revealed fibrillations in the C7 paravertebral muscles on the affected side. Chest x-ray revealed a large round apical mass on the affected side. A Horner's syndrome was noted at this point of diagnostic work-up. MRI of the cervical and thoracic spine revealed a dumbbell T1 neuroma enlarging the intervertebral foramen at T1-2 and a 5 cm large extradural tumor with extension into the apex of the ipsilateral lung. The patient underwent surgery in sitting position using a left dorsal midline approach. Although the T1 root could not be preserved, the patient's neurological condition was unchanged after the surgery. Conclusion Extended posterior midline exposure described here using hemilaminectomy, unilateral facetectomy and costo-transversectomy is efficient and safe for one-stage removal of dumbbell tumors at the T1

  13. Presentation

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    Eduardo Vicente

    2013-06-01

    Full Text Available In the present edition of Significação – Scientific Journal for Audiovisual Culture and in the others to follow something new is brought: the presence of thematic dossiers which are to be organized by invited scholars. The appointed subject for the very first one of them was Radio and the invited scholar, Eduardo Vicente, professor at the Graduate Course in Audiovisual and at the Postgraduate Program in Audiovisual Media and Processes of the School of Communication and Arts of the University of São Paulo (ECA-USP. Entitled Radio Beyond Borders the dossier gathers six articles and the intention of reuniting works on the perspectives of usage of such media as much as on the new possibilities of aesthetical experimenting being build up for it, especially considering the new digital technologies and technological convergences. It also intends to present works with original theoretical approach and original reflections able to reset the way we look at what is today already a centennial media. Having broadened the meaning of “beyond borders”, four foreign authors were invited to join the dossier. This is the first time they are being published in this country and so, in all cases, the articles where either written or translated into Portuguese.The dossier begins with “Radio is dead…Long live to the sound”, which is the transcription of a thought provoking lecture given by Armand Balsebre (Autonomous University of Barcelona – one of the most influential authors in the world on the Radio study field. It addresses the challenges such media is to face so that it can become “a new sound media, in the context of a new soundscape or sound-sphere, for the new listeners”. Andrew Dubber (Birmingham City University regarding the challenges posed by a Digital Era argues for a theoretical approach in radio studies which can consider a Media Ecology. The author understands the form and discourse of radio as a negotiation of affordances and

  14. Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome: a case report

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    Sharma Subodh

    2010-05-01

    Full Text Available Abstract Introduction We present a very rare case of mucopolysaccharidosis with atypical presentation such as mild mental retardation, an acrocephalic head and no corneal clouding. The purpose of presenting this case is to highlight the distinctive manifestation of mucopolysaccharidosis type II (Hunter syndrome. Case presentation A 10-year-old East Asian boy presented with abdominal distension of five years' duration and complained of shortness of breath on and off for the same period. On examination his head was large and his head circumference was 54.5 cm. His neck was short, he had coarse facial features, a depressed nasal bridge and small stubby fingers with flexion of distal interphalangeal joints, and a low arched palate was observed. There was mild mental retardation. Conclusion Based on clinical findings and radiological features it is possible to diagnose a case of mucopolysaccharidosis. Careful and systemic approach is needed to accurately diagnose the exact type as enzymatic studies are not available in most centers.

  15. Status epilepticus as the initial presentation of antibody-negative Goodpasture's syndrome.

    Science.gov (United States)

    Ting, Ingrid Pl; Abdul Halim, Sanihah; Adnan, Azreen; Jaafar, Hasnan

    2017-08-01

    Goodpasture's syndrome is a rare pulmonary-renal disease. It is characterised by presence of auto-antibodies directed against the glomerular basement membrane (GBM) antigen. These antibodies that bind to the GBM antigens cause rapidly progressive glomerulonephritis. The alveolar basement membrane also contains similar antigen, leading to pulmonary haemorrhage in active disease. We report a case of a young man who initially presented with status epilepticus and later was found to have rapidly progressive glomerulonephritis with pulmonary haemorrhage. Serum anti-GBM antibody was negative but the renal biopsy confirmed the diagnosis by showing typical linear IgG along the GBM on immunofluorescent study. He was treated with plasmapheresis and high-dose steroid in combination with oral cyclophosphamide. His renal function normalised after treatment. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  16. Intrahepatic Cholangiocarcinoma Presenting as the Budd-Chiari Syndrome: A Case Report and Literature Review

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    Joanna K Law

    2005-01-01

    Full Text Available Intrahepatic cholangiocarcinoma, an increasingly recognized primary tumour of the liver, is associated with a very poor prognosis. A patient with this tumour who presented with Budd-Chiari syndrome (the first to the authors' knowledge in Western literature and only the third patient overall secondary to extensive thrombosis in his inferior vena cava extending from the right atrium down to his iliac vessels is described. Neither curative nor palliative intervention was deemed to be an option in this patient, who deteriorated rapidly while on anti-coagulants. Postmortem examination confirmed the radiological findings, and histological analysis revealed characteristic appearances of this tumour within the biliary tree and invasion into the inferior vena cava. Furthermore, biliary dysplasia, which can be a precursor to this cancer, was also noted within some of the bile ducts.

  17. Anterior sacral meningocele masquerading as an ovarian cyst: a rare clinical presentation associated with Marfan syndrome

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    Neslin Sahin

    2015-04-01

    Full Text Available Anterior sacral meningocele is a very rare clinical entity characterized by herniation of a meningeal sac through a sacrococcygeal defect. We report a case of a 20-year old female with Marfan syndrome who presented with abdominal distention that was misdiagnosed as an ovarian cyst on pelvic ultrasound. Pelvic magnetic resonance (MR imaging showed large, well-defined multiloculated intrasacral and presacral cysts communicating via two separate broad necks and extending through defects in anterior aspect of sacral vertebrae. This case emphasizes that anterior sacral meningocele should be considered in the differential diagnosis of cases with pelvic cysts particularly in patients with underlying connective tissue disorders. Because severe neurologic complications or even death may occur without proper preoperative planning in such cases, MR imaging should always be performed for evaluation and characterization of pelvis cystic lesions.

  18. Anterior Sacral Meningocele Masquerading as an Ovarian Cyst: A Rare Clinical Presentation Associated with Marfan Syndrome.

    Science.gov (United States)

    Sahin, Neslin; Genc, Mine; Kasap, Esin; Solak, Aynur; Korkut, Berrin; Yilmaz, Erkan

    2015-04-24

    Anterior sacral meningocele is a very rare clinical entity characterized by herniation of a meningeal sac through a sacrococcygeal defect. We report a case of a 20-year old female with Marfan syndrome who presented with abdominal distention that was misdiagnosed as an ovarian cyst on pelvic ultrasound. Pelvic magnetic resonance (MR) imaging showed large, well-defined multiloculated intrasacral and presacral cysts communicating via two separate broad necks and extending through defects in anterior aspect of sacral vertebrae. This case emphasizes that anterior sacral meningocele should be considered in the differential diagnosis of cases with pelvic cysts particularly in patients with underlying connective tissue disorders. Because severe neurologic complications or even death may occur without proper preoperative planning in such cases, MR imaging should always be performed for evaluation and characterization of pelvis cystic lesions.

  19. Bilateral thoracic outlet syndrome: An uncommon presentation of a rare condition in children

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    Arif Khan

    2012-01-01

    Full Text Available We report an adolescent girl who had left-sided neurogenic thoracic outlet syndrome (TOS due to impingement of the scalenus anterior muscle with bilateral changes on nerve conduction studies and responded well to surgical decompression. A 13-year-old Caucasian girl presented with intermittent pain, swelling, erythema, tingling and numbness of the palmar aspect of her left hand. Nerve conduction studies revealed bilateral ulnar sensory and motor conduction abnormalities, suggesting early compressive neuropathy in the asymptomatic arm as well. She underwent surgical exploration when it was noted that the scalenus anterior itself was impinging on the brachial plexus. She had a good clinical response to scalenectomy. The diagnosis of neurogenic TOS remains difficult as no single test has been accepted as a gold standard. But, once diagnosed using clinical symptoms, nerve conduction studies, electromyography and radiological investigations, it is a treatable condition with good prognosis.

  20. Hereditary fructose intolerance presenting as Reye's-like syndrome: report of one case.

    Science.gov (United States)

    Yang, T Y; Chen, H L; Ni, Y H; Hwu, W L; Chang, M H

    2000-01-01

    Hereditary fructose intolerance (HFI) is an autosomal recessive disease caused by catalytic deficiency of aldolase B (fructose-1, 6-bisphosphate aldolase). Herein we report on a case of hereditary fructose intolerance with initial presentation of episodic unconsciousness, seizure, hypoglycemia, hepatomegaly, and abnormal liver function since the patient was 11 months old. She was diagnosed as Reye's-like syndrome according to a liver biopsy done at 20 months of age. As she grew up, cold sweating, abdominal pain or gastrointestinal discomfort shortly after the intake of fruits was noted and she developed an aversion to fruits, vegetables and sweet-tasting foods. At 9 years of age, a fructose tolerance test signified a positive result that induced hypoglycemia, transient hypophosphatemia, hyperuricaemia, elevation of serum magnesium, and accumulation of lactic acid. Appropriate dietary management and precautions were recommended. The patient has been symptom-free and exhibited normal growth and development when followed up to 12 years of age.

  1. Bilateral Pleural Effusions as an Initial Presentation in Primary Sjögren’s Syndrome

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    Go Makimoto

    2012-01-01

    Full Text Available Sjögren’s syndrome (SS is a systemic autoimmune disease characterized by sicca symptoms. Interstitial pulmonary fibrosis and tracheobronchial sicca are the most common symptoms of pulmonary involvement in primary SjS, and they are rarely accompanied by serositis such as pleuritis or pericarditis. We report a case of SS presenting initially with bilateral pleural effusions. A 63-year old man was admitted to our hospital with a one-month history of cough, dyspnea, and right chest pain. Chest-computed tomography revealed bilateral pleural effusions. Serum anti-SS-A antibody titer was 1 : 256. Ophthalmological examination revealed a positive Schirmer test. Lip biopsy showed atrophy and plasmacytic infiltration of the salivary gland. Corticosteroid treatment was initiated. Pleural effusions were almost completely resolved by day 30. The patient has not experienced any recurrence.

  2. An Unusual Presentation of Scimitar Syndrome in a Military Service Member

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    Daniel B. Simmons

    2013-01-01

    Full Text Available This is the case of a twenty-two-year-old active duty male soldier with nonexertional chest pain and worsening performance on his physical fitness test. His history was significant for a diagnosis of dextrocardia upon entry to the military. On acute presentation to the emergency department, he was deemed a candidate for the expedited coronary computed tomographic angiography (CCTA protocol to assess for a possible anatomic cause of his symptoms. CCTA revealed the presence of an anomalous right pulmonary vein draining into the inferior vena cava. Additionally, the imaging showed dextroversion of the heart, dilation of the inferior vena cava, right atrium, and right ventricle, as well as a hypoplastic right lung, a collection of findings consistent with scimitar syndrome and not dextrocardia.

  3. Innervation and function of rat tail muscles for modeling cauda equina injury and repair.

    Science.gov (United States)

    MacKenzie, Samuel J; Yi, Juneyoung L; Singla, Amit; Russell, Thomas M; Calancie, Blair

    2015-07-01

    The rat tail exhibits functional impairment after cauda equina injury. Our goal was to better understand the innervation and roles of muscles that control the tail. Adult rats received either: (1) ventral root injury; (2) caudales nerve injury; or (3) mapping of sacrococcygeal myotomes. Activation of small muscles within the tail itself (intrinsics) was compared with that of larger lumbosacral muscles acting on the tail (extrinsics). Behavioral testing of tail movement was done 1 week later. Rats that received ventral root injury exhibited multiple behavioral deficits, whereas rats with injury to caudales nerves maintained more fully preserved tail movement. Mapping studies revealed much broader overlap of myotomes for extrinsic muscles. Extrinsic tail muscles play a greater role in tail movement in the rat than their intrinsic counterparts and are innervated by multiple neurological segments. These findings have major implications for future research on cauda equina injury. © 2014 Wiley Periodicals, Inc.

  4. Myelitis and cauda equina involvement following dengue fever. A case report and review of the literature.

    Science.gov (United States)

    Lana-Peixoto, Marco A; Pedrosa, Denison; Talim, Natália; Amaral, Juliana M S S; Lacerda, Pâmela E; Kleinpaul, Rodrigo

    2017-12-21

    Dengue fever (DF) is a common arbovirosis in tropical and subtropical countries and may be associated with a wide range of neurological complications. We describe a 41-year-old man who developed weakness in the right arm and lower limbs, paresthesia in the upper and lower limbs, and sphincter disturbance four weeks following DF. Examination disclosed a wheel-chair bound patient with urinary catheter, areflexia in the lower limbs, and a sensation level at T10. Spinal magnetic resonance imaging showed diffuse lesions with contrast-enhanced areas extending from the medullary-cervical junction to the conus medullaris and cauda equina. A review of the literature reveals that this is the first report of clinical and imaging signs of myeloradiculitis with cauda equina involvement following DF infection. Copyright © 2017. Published by Elsevier B.V.

  5. First seizure as late presentation of velo-cardio-facial syndrome.

    Science.gov (United States)

    Simão, Inês; Lourenço, Teresa; Lopes, Lurdes; Ramos, Margarida Paula

    2013-01-01

    Congenital hypoparathyroidism caused by velo-cardio-facial syndrome (VCFS) typically presents with hypocalcemia in the neonatal period associated with other characteristic findings. We report the case of an 8-year-old boy presenting a hypocalcemic seizure (ionized calcium, 0.65 mM); he had a history of velopharyngeal insufficiency and late development with language impairment; at presentation, minor dysmorphic features were noticed. Laboratory evaluation revealed a parathormone level of <1.0 pg/mL. VCFS was confirmed by fluorescence in situ hybridization study revealing the 22q11.2 deletion. High levels of calcium administration were needed to normalize serum calcium. In this case, signs of hypoparathyroidism only developed in late childhood, and the patient, despite the minor clinical signs of VCFS, remained symptom-free. He presented no cardiac malformations, immunologic abnormalities, or renal dysfunction often associated with this diagnosis. In a child with hypocalcemia, considering the hypothesis of VCFS, even if there are no other manifestations, is important both for clinical diagnosis and management and for genetic counseling.

  6. Uncommon Presentation of Idiopathic Intracranial Hypertension in a Patient with Polycystic Ovary Syndrome: A Case Report

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    Anas Mohammad Albarrak

    2017-03-01

    Full Text Available Introduction: Idiopathic intracranial hypertension is a rare condition characterized by increased intracranial pressure without clinical, laboratory, or radiological evidence of intracranial pathology. Early management could prevent irreversible outcomes. Case Presentation: A 17-year-old single Arabian female of Arab origin presented with a 2-day complaint of horizontal diplopia and transient visual obscurations. She denied any history of headache or decreased vision. The patient was diagnosed with polycystic ovary syndrome a year prior to presentation. Examination revealed bilateral moderate papilledema and limited left eye abduction. However, visual acuity and fields were normal. Increased intracranial pressure was confirmed by lumbar puncture opening pressure (550 mm H2O. The cerebrospinal fluid composition and imaging of brain and cerebral venous system were normal. The diagnosis of idiopathic intracranial hypertension was confirmed and the patient was treated with acetazolamide 500 mg twice per day. The symptoms totally resolved within 3 days and the papilledema disappeared after 2 months. Conclusion: Awareness of such uncommon presentation of idiopathic intracranial hypertension emphasizes the critical importance of detailed ophthalmic examination and shows the good prognosis of early management.

  7. Minocycline-induced hypersensitivity syndrome presenting with meningitis and brain edema: a case report

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    Lefebvre Nicolas

    2007-05-01

    Full Text Available Background Hypersentivity Syndrome (HS may be a life-threatening condition. It frequently presents with fever, rash, eosinophilia and systemic manifestations. Mortality can be as high as 10% and is primarily due to hepatic failure. We describe what we believe to be the first case of minocycline-induced HS with accompanying lymphocytic meningitis and cerebral edema reported in the literature. Case presentation A 31-year-old HIV-positive female of African origin presented with acute fever, lymphocytic meningitis, brain edema, rash, eosinophilia, and cytolytic hepatitis. She had been started on minocycline for inflammatory acne 21 days prior to the onset of symptoms. HS was diagnosed clinically and after exclusion of infectious causes. Minocycline was withdrawn and steroids were administered from the second day after presentation because of the severity of the symptoms. All signs resolved by the seventh day and steroids were tailed off over a period of 8 months. Conclusion Clinicians should maintain a high index of suspicion for serious adverse reactions to minocycline including lymphocytic meningitis and cerebral edema among HIV-positive patients, especially if they are of African origin. Safer alternatives should be considered for treatment of acne vulgaris. Early recognition of the symptoms and prompt withdrawal of the drug are important to improve the outcome.

  8. Thickening of the cauda equina roots: a common finding in Krabbe disease

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    Hwang, Misun; Rodriguez, David [Department of Radiology of University of Pittsburgh Medical Center, Pittsburgh, PA (United States); Zuccoli, Giulio; Panigrahy, Ashok [Section of Neuroradiology, Children' s Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, PA (United States); Poe, Michele D.; Escolar, Maria L. [Department of Pediatrics at Children' s Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, PA (United States)

    2016-10-15

    Evaluation of Krabbe disease burden and eligibility for hematopoietic stem cell transplantation are often based on neuroimaging findings using the modified Loes scoring system, which encompasses central but not peripheral nervous system changes. We show that quantitative evaluation of thickened cauda equina nerve roots may improve the evaluation of Krabbe disease and therapeutic guidance. Lumbar spine MRI scans of patients obtained between March 2013 and September 2013 were retrospectively evaluated and compared to those of controls. Quantitative evaluation of cauda equina roots was performed on the axial plane obtained approximately 5 mm below the conus medullaris. The largest nerves in the right and left anterior quadrants of the spinal canal were acquired. Fifteen symptomatic patients with Krabbe disease (5-44 months old) and eleven age-matched controls were evaluated. The average areas (mm{sup 2}) of anterior right and left nerves were 1.40 and 1.23, respectively, for patients and 0.61 and 0.60 for controls (differences: 0.79 and 0.63; p < 0.001). Cauda equina nerve root thickening is associated with Krabbe disease in both treated and untreated patients. Adding lumbar spine MRI to the current neurodiagnostic protocols, which fails to account for peripheral nerve abnormalities, will likely facilitate the diagnosis of Krabbe disease. (orig.)

  9. Role of motor evoked potentials in diagnosis of cauda equina and lumbosacral cord lesions.

    Science.gov (United States)

    Di Lazzaro, V; Pilato, F; Oliviero, A; Saturno, E; Dileone, M; Tonali, P A

    2004-12-28

    To determine the diagnostic value of motor evoked potentials (MEPs) in the diagnosis of lumbosacral cord disorders. MEPs in 37 patients with sensory and motor deficits in the lower limbs were studied. MRI demonstrated spinal cord involvement in 10 patients and cauda equina lesions in 27 patients. A double determination of central motor conduction time (CMCT), calculated as the difference between the latencies of responses evoked by cortical and paravertebral magnetic stimulation and as the difference between the latency of cortical MEP and the total peripheral conduction time calculated from the F-wave latency, enabled discrimination between a delay along the proximal root and a delay along the corticospinal tract. An abnormality of the CMCT calculated with both techniques is indicative of central motor pathway damage, whereas an abnormality of the CMCT calculated from the latency of responses evoked by paravertebral magnetic stimulation associated with a normal CMCT calculated from the F-wave latency suggests a cauda equina lesion. Neurophysiologic findings strongly correlated with the lesion site documented by MRI (cauda equina or lumbosacral cord). All patients with MR evidence of cord involvement had an abnormality of CMCT calculated with both methods, suggesting a lesion of central motor pathways. Clinical examination often failed to document a spinal cord lesion, suggesting pure peripheral involvement in 5 of the 10 patients with MR evidence of cord lesion. Motor evoked potential recording is an accurate and easily applicable test for the diagnosis of lumbosacral spinal cord lesions.

  10. Clinical presentation and treatment of bladder pain syndrome/interstitial cystitis (BPS/IC) in India.

    Science.gov (United States)

    Mishra, Nagendra Nath

    2015-10-01

    Bladder pain syndrome/interstitial cystitis (BPS/IC) is a chronic disease characterized by pelvic pain urgency and frequency. Patients with severe symptoms lead a very miserable life. North American, European and Asian guidelines have been recently promulgated but they differ on many important issues. There is no consensus on its name, definition, investigations and management. Indian guidelines have also been developed and they give more importance to the symptoms in relation to micturition. Though initially believed to be rare or non-existent in India the situation has changed. In Indian patients the presentation is more or less same as the rest of the world but a large percentage have obstructive symptoms and unusual urinary symptoms. Anal discomfort is also common. In India the commonest investigation in all cases of lower urinary tract (LUT) dysfunction is ultrasonography of kidney ureter and bladder with measurement of the post void residual urine volume. Cystoscopy is also done in all the cases to rule out presence of tuberculosis or carcinoma in situ. Bladder pain syndrome/interstitial cystitis (BPS/IC) is not considered to be a clinical disease as it is difficult to rule out all differential diagnosis only from history. Hunner's lesion is very rare. Cystoscopy with hydro distension, oral therapy, intravesical therapy and surgical therapy form the back bone of management. It is difficult to know which treatment is best for a given patient. A staged protocol is followed and all the treatment modalities are applied to the patients in a sequential fashion-starting from the non-invasive to more invasive. Intravesical botox has not been found to be effective and there is no experience with interstim neuromodulation.

  11. [Intrathyroidal location of parathyroid glands. Atypical presentation of multiple endocrine neoplasia type 1 syndrome].

    Science.gov (United States)

    de la Fuente-Bartolomé, Marta; Moreno-Bargueiras, Alejando; Osorio-Silla, Irene; Martínez-Pueyo, José Ignacio; de la Cruz-Vigo, Felipe; Gutiérrez-Ashling, Lara

    2017-12-01

    The most common manifestation of MEN 1 syndrome is primary hyperparathyroidism (PHPT) with parathyroid multiglandular affectation. The intrathyroidal situation represents 3-4% of all glands, and it is the second most frequent location in the cervical ectopias. 11 year old patient, with a family history of MEN1 syndrome and carrier of this same mutation. Patient presents HPTP with osteopenia. The cervical ultrasound shows three compatible images with pathological parathyroid glands (bilateral lower and upper left). The Scan and MRI are normal. Bone densitometry displays data on osteopenia. The patient is surgically intervened, only the upper parathyroid glands are located and removed, after this implantation is performed on the forearm, to prevent the possible devascularization in the dissection of the other glands. However, osteopenia persists and an elevated PTH, therefore new diagnostic tests are held which seem to show two lower parathyroid glands with intrathyroidal location. The patient is reoperated. A subtotal parathyroidectomy of the lower right gland and the resection of the left gland is performed, with the use of intraoperative ultrasound and placement of harpoon. The intraoperative pathology study confirms parathyroid tissue in both cases. It is necessary to locate the parathyroid glands preoperatively in order to alert us of the existence of topographical and ectopia abnormalities, as well as their intrathyroidal location (0.5-3.6%). The intraoperative ultrasound can be a complement to the experience of the endocrine surgeon for the localization of the parathyroid glands and therefore can help determine the best surgical strategy for each clinical case. Copyright © 2016 Academia Mexicana de Cirugía A.C. Publicado por Masson Doyma México S.A. All rights reserved.

  12. Pattern of dyslipidaemia among the Bangladeshi type 2 diabetic patients presented with acute coronary syndrome.

    Science.gov (United States)

    Hoque, M H; Mahmood, M; Haque, M A; Salim, M A

    2014-10-01

    Increasing prevalence of diabetes and its complications in the developing communities would pose a threat in respect to their existing health care service. An increased incidence of atherosclerosis in insulin-dependent diabetic patients has long been recognized. Hyperlipidaemia, a common finding in these patients, may be one of the contributing factors. The objective of our study is to find out the patterns of dyslipidaemia among the Bangladeshi patients with type-2 diabetes mellitus presented with acute coronary syndrome. This study was conducted in the department of cardiology of BIRDEM and Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh during the period of January 2009 to December 2009. A total of 100 patients were included in this study, according to the inclusion and exclusion criteria. Diabetes Mellitus and Acute Coronary Syndrome was diagnosed according to the guideline of American Diabetic Association and American College of Cardiology respectively. Among the respondents Mean±SD of fasting blood sugar and 2 hours ABF were 9.23±3.6mmol/L and 12.61±8.52mmol/L respectively. Mean±SD of HbA1C of the respondents was 7.23±2.12. Total cholesterol level 200mg/dl were 27.0%, 42.0% and 31.0% respectively. HDL cholesterol 40mg/dl were 76.0% and 24.0% respectively. LDL cholesterol 150mg/dl were 43.0% and 57.0% respectively. TG within 40 to 160mg/dl and >160mg/dl were 73.0% and 27.0% respectively, Mean±SD of Total Cholesterol, HDL Cholesterol, LDL Cholesterol and Triglyceride were 162.43±38.62, 37.41±8.59, 137.43±22.73 and 156.43±41.92mg/dl respectively.

  13. Acute adrenal failure as the presenting feature of primary antiphospholipid syndrome in a child

    Directory of Open Access Journals (Sweden)

    Improda Nicola

    2012-09-01

    Full Text Available Abstract Introduction Antiphospholipid syndrome (APS is characterized by recurrent arterial and venous thrombosis and detection of antiphospholipid antibodies (aPLs. This syndrome may be associated with connective tissue disorders, or with malignancies, but it may also appear in isolated form (primary APS. We report on a pediatric patient presenting with acute adrenal failure as the first manifestation of primary APS. Case report A previously healthy 11-year-old boy developed fever, abdominal pain, and vomiting. An abdominal computed tomography scan showed nodular lesions in the adrenal glands. He was referred to our Department and a diagnosis of APS and acute adrenal failure was considered, based on positive aPLs (IgG and IgM, elevated ACTH levels and low cortisol levels. Other features were anemia, thrombocytopenia, elevated inflammatory parameters, hypergammaglobulinemia, prolonged partial thromboplastin time, positive antinuclear, anticardiolipin, anti-platelet antibodies, with negative double-stranded DNA antibodies. Lupus anticoagulant and Coomb’s tests were positive. MRI revealed a bilateral adrenal hemorrhage. A treatment with intravenous metylprednisolone, followed by oral prednisone and anticoagulant, was started, resulting in a progressive improvement. After 2 months he also showed hyponatremia and elevated renine levels, indicating a mineralcocorticoid deficiency, requiring fludrocortisones therapy. Conclusion The development of acute adrenal failure from bilateral adrenal haemorrhage in the context of APS is a rare but life-threatening event that should be promptly recognized and treated. Moreover, this case emphasizes the importance of the assessment of aPLs in patients with acute adrenal failure in the context of an autoreaction.

  14. Uncommon Presentation of Idiopathic Intracranial Hypertension in a Patient with Polycystic Ovary Syndrome: A Case Report.

    Science.gov (United States)

    Albarrak, Anas Mohammad; Kojan, Suleiman

    2017-01-01

    Idiopathic intracranial hypertension is a rare condition characterized by increased intracranial pressure without clinical, laboratory, or radiological evidence of intracranial pathology. Early management could prevent irreversible outcomes. A 17-year-old single Arabian female of Arab origin presented with a 2-day complaint of horizontal diplopia and transient visual obscurations. She denied any history of headache or decreased vision. The patient was diagnosed with polycystic ovary syndrome a year prior to presentation. Examination revealed bilateral moderate papilledema and limited left eye abduction. However, visual acuity and fields were normal. Increased intracranial pressure was confirmed by lumbar puncture opening pressure (550 mm H2O). The cerebrospinal fluid composition and imaging of brain and cerebral venous system were normal. The diagnosis of idiopathic intracranial hypertension was confirmed and the patient was treated with acetazolamide 500 mg twice per day. The symptoms totally resolved within 3 days and the papilledema disappeared after 2 months. Awareness of such uncommon presentation of idiopathic intracranial hypertension emphasizes the critical importance of detailed ophthalmic examination and shows the good prognosis of early management.

  15. A rare presentation of subclinical Cushing's syndrome as a pubic fracture.

    Science.gov (United States)

    Arduc, Ayse; Dogan, Bercem Aycicek; Akbaba, Gulhan; Dagdelen, Iffet; Kucukler, Kerim; Isik, Serhat; Ozuguz, Ufuk; Berker, Dilek; Guler, Serdar

    2014-01-01

    Osteoporosis and bone fractures are commonly seen in patients with Cushing's syndrome (CS). Fractures usually occur in the vertebrae and ribs whereas pubic fractures are less common. Similar to obvious hypercortisolemia, subclinical hypercortisolemia can increase the risk of fractures. However, in subclinical cases, bone fractures are very rarely seen as the presenting symptom. We herein report the case of a 62-year-old postmenopausal woman who was presented with a pubic fracture. During the evaluation of the fracture, thoracoabdominal magnetic resonance imaging of the patient demonstrated an adrenal mass. Although the patient did not show any signs of overt hypercortisolism, an endocrinologic evaluation revealed hypercortisolism due to an adrenal tumor. Adrenalectomy was performed, which resulted in a cure of the disease. During the orthopedic follow-up, the patient's pubic area pain gradually improved, and the pubic fracture healed without any accompanying new bone fractures. One year after the surgery, a remarkable improvement was detected in the patient's bone density in spite of the lack of administration of any medications for osteoporosis. Subclinical CS can present as a pubic fracture, and awareness of this relationship can help physicians to diagnose the disease.

  16. Imaging, Endoscopic and Genetic Assessment of Marfan Syndrome Presenting with Sigmoid Volvulus: A Review

    Science.gov (United States)

    Hurairah, Abu; Shaikh, Faiq

    2016-01-01

    The Marfan syndrome (MFS) is a pleiotropic, autosomal dominant disorder of connective tissue with highly variable clinical manifestations. It primarily involves the skeletal, cardiovascular, and ocular systems; however, gastrointestinal complications are rare. Herein, we describe the case of a 31-year-old male who initially presented with acute abdominal pain for one day. His imaging features revealed a dilated sigmoid colon, consistent with sigmoid volvulus that was immediately decompressed. Surgical resection was recommended to treat the sigmoid volvulus. Preceding the treatment, the patient underwent an extensive workup, including an echocardiography that revealed aortic root dilatation. His clinical history, physical exam, and echocardiographic findings raised the suspicion for MFS. Subsequently, the diagnosis of MFS was confirmed on genetic testing. This is a case that highlights the multidisciplinary (clinical, radiological, endoscopic, molecular/genetic) approach to diagnose a patient with MFS who presented with symptomatic sigmoid volvulus. As this presentation may be a harbinger of more severe manifestations of MFS, it is important to identify it as such in order to accomodate for timely management. PMID:27382527

  17. Acute myocarditis presenting as acute coronary syndrome: role of early cardiac magnetic resonance in its diagnosis.

    Science.gov (United States)

    Monney, Pierre A; Sekhri, Neha; Burchell, Thomas; Knight, Charles; Davies, Ceri; Deaner, Andrew; Sheaf, Michael; Baithun, Suhail; Petersen, Steffen; Wragg, Andrew; Jain, Ajay; Westwood, Mark; Mills, Peter; Mathur, Anthony; Mohiddin, Saidi A

    2011-08-01

    In patients presenting with acute cardiac symptoms, abnormal ECG and raised troponin, myocarditis may be suspected after normal angiography. To analyse cardiac magnetic resonance (CMR) findings in patients with a provisional diagnosis of acute coronary syndrome (ACS) in whom acute myocarditis was subsequently considered more likely. 79 patients referred for CMR following an admission with presumed ACS and raised serum troponin in whom no culprit lesion was detected were studied. 13% had unrecognised myocardial infarction and 6% takotsubo cardiomyopathy. The remainder (81%) were diagnosed with myocarditis. Mean age was 45±15 years and 70% were male. Left ventricular ejection fraction (EF) was 58±10%; myocardial oedema was detected in 58%. A myocarditic pattern of late gadolinium enhancement (LGE) was detected in 92%. Abnormalities were detected more frequently in scans performed within 2 weeks of symptom onset: oedema in 81% vs 11% (p3 weeks), oedema decreased from 84% to 39% (p<0.01) and LGE from 5.6 to 3.0 segments (p=0.005). Three patients presented with sustained ventricular tachycardia, another died suddenly 4 days after admission and one resuscitated 7 weeks following presentation. All 5 patients had preserved EF. Our study emphasises the importance of access to CMR for heart attack centres. If myocarditis is suspected, CMR scanning should be performed within 14 days. Myocarditis should not be regarded as benign, even when EF is preserved.

  18. [Systemic lupus erythematosus presenting as severe alveolar hypoventilation and the shrinking lung syndrome].

    Science.gov (United States)

    Ammar, Y; Launois, C; Perotin, J-M; Dury, S; Servettaz, A; Perdu, D; Vallerand, H; Nardi, J; Boulagnon-Rombi, C; Pluot, M; Lebargy, F; Deslee, G

    2017-05-01

    The shrinking lung syndrome (SLS) is a rare complication of systemic lupus erythematosus. A 69-year-old man presented with exertional dyspnoea, muscle weakness, and weight loss of 15kg in 6months. Pulmonary function tests revealed a restrictive lung disorder, with a dramatic decrease in maximal inspiratory pressure (17% of theoretical value), and alveolar hypoventilation (pH 7.43; PaCO2 55mmHg). A thoracic CT-scan showed bilateral diaphragmatic elevation. The creatinine phophokinase level was increased at 280U/L. Progress was marked by a rapidly increasing respiratory acidosis (pH 7.24, PaCO2 109mmHg) requiring invasive ventilation. Auto-immune studies revealed positive anti-nuclear antibodies (1/800) and positive anti-native DNA antibody at 45U/L. Treatment with systemic corticosteroids led to an initial improvement but it was not possible to discontinue mechanical ventilation. The outcome was fatal. Autopsy did not reveal any other cause and a diagnosis of the SLS associated with lupus was confirmed. The interesting features of this case report consist of: 1) the presentation of the SLS as an alveolar hypoventilation with a fatal outcome, 2) the presentation of systemic lupus as SLS. Copyright © 2017 SPLF. Published by Elsevier Masson SAS. All rights reserved.

  19. Posterior reversible leukoencephalopathy syndrome presenting in a post-partum, 25-year-old-female with concomitant subarachnoid hemorrhage

    Directory of Open Access Journals (Sweden)

    Daniel M. Aronovich

    2014-01-01

    Full Text Available Hinchey et al., first described that posterior reversible leukoencephalopathy syndrome has having a unique neuroradiographical finding of vasogenic edema and clinical symptoms including headache, altered mental status, seizure and visual disturbances in 1996. We present a rare case of posterior reversible leukoencephalopathy syndrome in a 2-week, post-partum G2P2A0 (normal spontaneous vaginal delivery at forty-weeks, without complications 25-year-old-female with subarachnoid hemorrhage.

  20. Gorlin syndrome presenting with a unilateral ovarian fibroma in a 22-year-old woman: a case report

    Directory of Open Access Journals (Sweden)

    Finch Terence

    2012-06-01

    Full Text Available Abstract Introduction Nevoid basal cell carcinoma syndrome, or Gorlin syndrome, is an inherited disorder characterized by malignancies of the skin and other organs, skeletal abnormalities, and congenital malformations. The syndrome follows an autosomal dominant inheritance pattern with a gene mutation localized to 9q22.3. Case presentation We present the case of a 22-year-old Caucasian woman with a unilateral ovarian fibroma, falx cerebri calcification and odontogenic keratocysts, but without any skin manifestations. The diagnosis of nevoid basal cell carcinoma syndrome was made after a right salpingo-oophorectomy for a calcified ovarian fibroma with cystic degeneration. Pathologic examination of the 10 cm right ovarian mass revealed a well-circumscribed spindle cell lesion. Immunohistochemical staining of the lesion demonstrated positivity for vimentin and smooth muscle actin. Conclusion It is important to recognize that nevoid basal cell carcinoma syndrome may present in the absence of skin lesions. Additionally, ovarian fibromas are typically bilateral in nevoid basal cell carcinoma syndrome, but can uncommonly be unilateral, which may alter clinical management. Ovarian fibromas are managed with surgical excision with an attempt at ovarian functional preservation.

  1. Delayed presentation of compartment syndrome of the thigh secondary to quadriceps trauma and vascular injury in a soccer athlete.

    Science.gov (United States)

    How, Moo Ing; Lee, Puah Ken; Wei, Tan See; Chong, Chua Tai

    2015-01-01

    Compartment syndrome isolated to the anterior thigh is a rare complication of soccer injury. Previous reports in the English literature on sports trauma-related compartment syndrome of the thigh are vague in their description of the response of thigh musculature to blunt trauma, magnetic resonance imaging (MRI) findings of high-risk features of compartment syndrome, vascular injury in quadriceps trauma, and the role of vascular study in blunt thigh injury. We present herein the rare case of a 30-year-old man who developed thigh compartment syndrome 8 days after soccer injury due to severe edema of vastus intermedius and large thigh hematoma secondary to rupture of the profunda femoris vein. MRI revealed "blow-out" rupture of the vastus lateralis. Decompressive fasciotomy and vein repair performed with subsequent split-skin grafting of the wound defect resulted in a good functional outcome at 2-years follow-up. A high index of suspicion for compartment syndrome is needed in all severe quadriceps contusion. Vascular injury can cause thigh compartment syndrome in sports trauma. MRI findings of deep thigh muscle swelling and "blow-out" tear of the vastus lateralis are strongly suggestive of severe quadriceps injury, and may be a harbinger of delayed thigh compartment syndrome. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

  2. Functional Imaging Signature of Patients Presenting with Polycythemia/Paraganglioma Syndromes.

    Science.gov (United States)

    Janssen, Ingo; Chen, Clara C; Zhuang, Zhenping; Millo, Corina M; Wolf, Katherine I; Ling, Alexander; Lin, Frank I; Adams, Karen T; Herscovitch, Peter; Feelders, Richard A; Fojo, Antonio T; Taieb, David; Kebebew, Electron; Pacak, Karel

    2017-08-01

    Pheochromocytoma/paraganglioma (PPGL) syndromes associated with polycythemia have previously been described in association with mutations in the von Hippel-Lindau gene. Recently, mutations in the prolyl hydroxylase gene (PHD) 1 and 2 and in the hypoxia-inducible factor 2 α (HIF2A) were also found to be associated with multiple and recurrent PPGL. Such patients also presented with PPGL and polycythemia, and later on, some presented with duodenal somatostatinoma. In additional patients presenting with PPGL and polycythemia, no further mutations have been discovered. Because the functional imaging signature of patients with PPGL-polycythemia syndromes is still unknown, and because these tumors (in most patients) are multiple, recurrent, and metastatic, the goal of our study was to assess the optimal imaging approach using 4 different PET radiopharmaceuticals and CT/MRI in these patients. Methods: Fourteen patients (10 women, 4 men) with confirmed PPGL and polycythemia prospectively underwent (68)Ga-DOTATATE (13 patients), (18)F-FDG (13 patients), (18)F-fluorodihydroxyphenylalanine ((18)F-FDOPA) (14 patients), (18)F-fluorodopamine ((18)F-FDA) (11 patients), and CT/MRI (14 patients). Detection rates of PPGL lesions were compared between all imaging studies and stratified between the underlying mutations. Results:(18)F-FDOPA and (18)F-FDA PET/CT showed similar combined lesion-based detection rates of 98.7% (95% confidence interval [CI], 92.7%-99.8%) and 98.3% (95% CI, 90.9%-99.7%), respectively. The detection rates for (68)Ga-DOTATATE (35.3%; 95% CI, 25.0%-47.2%), (18)F-FDG (42.3; 95% CI, 29.9%-55.8%), and CT/MRI (60.3%; 95% CI, 48.8%-70.7%) were significantly lower (P < 0.01), irrespective of the mutation status. Conclusion:(18)F-FDOPA and (18)F-FDA are superior to (18)F-FDG, (68)Ga-DOTATATE, and CT/MRI and should be the radiopharmaceuticals of choice in this rare group of patients. © 2017 by the Society of Nuclear Medicine and Molecular Imaging.

  3. The prevalence of post-abortion syndrome in patients presenting at ...

    African Journals Online (AJOL)

    Background: Post-abortion syndrome (PAS) is said to be the emotional, psychological, physical and spiritual trauma caused by an abortion, which is an event outside the normal range of human experience. Post-abortion syndrome is a type of post-traumatic disorder and is characterised by a stressor (the abortion), the event ...

  4. Brown′s syndrome with ocular albinism: Case report of a rare presentation and literature review

    Directory of Open Access Journals (Sweden)

    Soumya Nambiar

    2015-01-01

    Full Text Available We report a rare case of Brown′s syndrome associated with ocular albinism in a 10-year-old boy. This report highlights the importance of further analysis of cases of Brown′s syndrome and throws some light on the etiology and association of this rare condition.

  5. Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations

    NARCIS (Netherlands)

    van der Werf, Christine S.; Sribudiani, Yunia; Verheij, Joke B. G. M.; Carroll, Matthew; O'Loughlin, Edward; Chen, Chien-Huan; Brooks, Alice S.; Liszewski, M. Kathryn; Atkinson, John P.; Hofstra, Robert M. W.

    Purpose: Autosomal recessive congenital short bowel syndrome is caused by mutations in CLMP. No mutations were found in the affected males of a family with presumed X-linked congenital short bowel syndrome or in an isolated male patient. Our aim was to identify the disease-causing mutation in these

  6. Bilateral Wyburn-Mason Syndrome presenting as acute subarachnoid haemorrhage - a very rare congenital neurocutaneuos disorder

    DEFF Research Database (Denmark)

    Cortnum, Søren Ole Stigaard; Sørensen, Preben; Andresen, J

    2008-01-01

    . Wyburn-Mason syndrome is a very rare congenital neurocutaneuos disorder comprising of vascular malformations of the retina, ipsilateral cerebral AVMs and occasionally lesions in the oronasopharyngeal area. Subarachnoid haemorrhage associated with Wyburn-Mason syndrome has been described in only 5...

  7. Brown's syndrome with ocular albinism: Case report of a rare presentation and literature review.

    Science.gov (United States)

    Nambiar, Soumya; Ramasubramanian, Srikanth; Swaminathan, Meenakshi

    2015-01-01

    We report a rare case of Brown's syndrome associated with ocular albinism in a 10-year-old boy. This report highlights the importance of further analysis of cases of Brown's syndrome and throws some light on the etiology and association of this rare condition.

  8. Polyvascular Disease in Patients Presenting with Acute Coronary Syndrome: Its Predictors and Outcomes

    Directory of Open Access Journals (Sweden)

    Hassan Al Thani

    2012-01-01

    Full Text Available We evaluated prevalence and clinical outcome of polyvascular disease (PolyVD in patients presenting with acute coronary syndrome (ACS. Data for 7689 consecutive ACS patients were collected from the 2nd Gulf Registry of Acute Coronary Events between October 2008 and June 2009. Patients were divided into 2 groups (ACS with versus without PolyVD. All-cause mortality was assessed at 1 and 12 months. Patients with PolyVD were older and more likely to have cardiovascular risk factors. On presentation, those patients were more likely to have atypical angina, high resting heart rate, high Killip class, and GRACE risk scoring. They were less likely to receive evidence-based therapies. Diabetes mellitus, renal failure, and hypertension were independent predictors for presence of PolyVD. PolyVD was associated with worse in-hospital outcomes (except for major bleedings and all-cause mortality even after adjusting for baseline covariates. Great efforts should be directed toward primary and secondary preventive measures.

  9. Peripheral Arterial Disease in Patients Presenting with Acute Coronary Syndrome in Six Middle Eastern Countries

    Directory of Open Access Journals (Sweden)

    Hassan A. Al-Thani

    2011-01-01

    Full Text Available To describe prevalence and impact of peripheral arterial disease (PAD in patients with acute coronary syndrome (ACS, data were collected over 5 months from 6 Middle Eastern countries. Patients were divided into 2 groups (with and without PAD. Out of 6705 consecutive ACS patients, PAD was reported in 177 patients. In comparison to non-PAD, PAD patients were older and more likely to have cardiovascular risk factors. They were more likely to have high Killip class, high GRACE risk score, and non-ST elevation ACS (NSTEACS at presentation. Thrombolytics, antiplatelet use, and coronary intervention were comparable in both groups. When presented with ST-elevation myocardial infarction (STEMI, patients with PAD had worse outcomes, while in NSTEACS; PAD was associated with higher rate of heart failure in comparison to non-PAD patients. In diabetics, PAD was associated with 2-fold increase in mortality when compared to non-PAD (P=0.028. After adjustment, PAD was associated with high mortality in STEMI (adjusted OR 2.6; 95% CI 1.23–5.65, P=0.01. Prevalence of PAD in ACS in the Gulf region is low. Patients with PAD and ACS constitute a high risk group and require more attention. PAD in patients with STEMI is an independent predictor of in-hospital death.

  10. Complex Regional Pain Syndrome-Type 1 Presenting as deQuervain's Stenosing Tenosynovitis.

    Science.gov (United States)

    Vas, Lakshmi; Pai, Renuka

    2016-01-01

    To report the presentation of complex regional pain syndrome-1 (CRPS-1) as deQuervain's stenosing tenosynovitis (DQST). A 24-year-old woman presented with 3-year history of clinical diagnostic criteria (CDC) of CRPS-1. Conservative and surgical treatment for this as DQST had failed to relieve her. We diagnosed the problem as CRPS-1with CDC as inflammatory manifestations of a mechanical tendinoses of all her 5 digital tendons caused by movement of the fingers and hand tethered by agonist (flexor)/ antagonist (extensor) muscles in co-contraction. Ultrasound guided dry needling (USGDN) relaxed the muscles, replacing the abnormal agonist/antagonist co-contraction with normal agonist/antagonist coordination. Resolution of tendinoses reversed the inflammation causing the CDC. Six months later she leads normal personal and professional life, with reduction of scores of painDetect (from 21 to 5), Patient Health Questionnaire (from 13 to 4), Disability of arm, shoulder and hand from 70.8 to 25 and reversal of muscle abnormality characteristic of CRPS-1 on Musculoskeletal Ultrasonography (MSKUSG). We believe the primary pathology of CRPS-1 to be co-contraction of agonist (flexor)/antagonist(extensor) muscles of digits resulting in tendinoses akin to DQST. CDC of CRPS are actually inflammatory manifestations of tendinoses amenable to reversal by USGDN which also addresses the disability, a hallmark of CRPS.

  11. Primary Pulmonary Lymphoma Presenting with Superior Vena Cava Syndrome in a Young Female

    Directory of Open Access Journals (Sweden)

    Divya Salhan

    2017-01-01

    Full Text Available Primary Pulmonary Diffuse Large B Cell Lymphoma (PPDLBCL is an extremely rare entity, which exhibits an aggressive behavior by compressing local blood vessels. It represents only 0.04% of all lymphoma cases and is extremely rare in young age. We present a case of a primary pulmonary lymphoma with superior vena cava syndrome (SVCS in a young female. 27-year-old African American female presented with fever, cough, and facial puffiness for 2 weeks and unintentional weight loss. Chest examination showed decreased breath sounds and dullness on percussion on right side. Labs were normal except for mild leukocytosis, high lactate, and lactate dehydrogenase. Chest X-ray showed a large right side infiltrate with pleural effusion but chest CT showed 10 × 14 × 16 cm mass in the right lung without hilar and mediastinal lymphadenopathy. CT guided biopsy of the right lung mass was done and large B cell lymphoma was diagnosed. She received “involved field radiation” because of the bulky tumor size and superior vena cava involvement prior to R-CHOP to which she responded well. PPDLBCL should be considered as one of the differentials in a young patient with a large lung mass, which needs timely diagnosis and management.

  12. Time to standardize and broaden the criteria of acute coronary syndrome symptom presentations in women.

    Science.gov (United States)

    Canto, John G; Canto, Elizabeth A; Goldberg, Robert J

    2014-07-01

    Early recognition of the signs and symptoms of acute coronary syndromes (ACS) is essential to improving patient management and associated outcomes. It is widely reported that women might have a different ACS symptom presentation than men. Multiple review articles have examined sex differences in symptom presentation of ACS and these studies have yielded inconclusive results and/or inconsistent recommendations. This is largely because these studies have included diverse study populations, different methods of assessing the chief complaint and associated coronary symptoms, relatively small sample sizes of women and men, and lack of adequate adjustment for age or other potentially confounding differences between the sexes. There is a substantial overlap of ACS symptoms that are not mutually exclusive according to sex, and are generally found in women and men. However, there are apparent differences in the frequency and distribution of ACS symptoms among women and men. Women, on average, are also more likely to have a greater number of ACS-related symptoms contributing to the perception that women have more atypical symptoms than men. In this review, we address issues surrounding whether women should have a different ACS symptom presentation message than men, and provide general recommendations from a public policy perspective. In the future, our goal should be to standardize ACS symptom presentation and to elucidate the full range of ACS and myocardial infarction symptoms considering the substantial overlap of symptoms among women and men rather than use conventional terms such as "typical" and "atypical" angina. Copyright © 2014 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  13. An Unusual Presentation of Pyoderma Gangrenosum Leading to Systemic Inflammatory Response Syndrome

    Directory of Open Access Journals (Sweden)

    Ali Didan

    2017-09-01

    Full Text Available This is a report of an atypical presentation of pyoderma gangrenosum (PG in a 26-year-old male who had a negative septic screen. The patient had a life-threatening presentation requiring an intensive care unit (ICU admission for vasopressor support. It was thought that the likely cause of circulatory collapse was an overwhelming cytokine reaction or systemic inflammatory response syndrome (SIRS secondary to extensive PG lesions rather than septic shock. The patient presented with multiple large ulcers, the largest being 4 cm in diameter on the central chest. He developed fevers and circulatory shock preceding his ICU admission. Microbiological specimens, including blood cultures and wound swabs, were negative for any growth (bacterial, fungal, and tuberculosis. No infective foci could be identified as a cause of hemodynamic instability. During admission, the patient’s condition was complicated by multi-organ dysfunction. Wound debridement extending to the deep fascia on the anterior chest, back, bilateral shoulders, and right upper thigh was deemed necessary and performed by the plastic surgery team. Histopathology showed abundant neutrophils but could not confirm an infective process. Overall, the patient made an impressive recovery with almost complete healing of all lesions following oral prednisolone alone. Based on the history and clinical and laboratory findings, a diagnosis of PG complicated by a SIRS was favored. Very few cases of neutrophilic dermatoses have been described in this way. A similar presentation has been described in a 76-year-old female with lower-leg ulcers who developed circulatory shock and required an amputation. Lesions continued to appear despite antibiotics and surgical treatment. Septic screen was negative. She was subsequently diagnosed with PG and recovered rapidly after steroid therapy.

  14. A Case of Acute Budd-Chiari Syndrome Complicating Primary Antiphospholipid Syndrome Presenting as Acute Abdomen and Responding to Tight Anticoagulant Therapy

    Directory of Open Access Journals (Sweden)

    Naofumi Chinen

    2016-01-01

    Full Text Available A 34-year-old woman with primary antiphospholipid syndrome was admitted to the Gastroenterology Department of our hospital with fever, acute abdomen, watery diarrhea, and extremely high levels of inflammatory parameters. She had a history of left lower limb deep vein thrombosis and pulmonary embolism and was taking warfarin potassium. Acute gastroenteritis was suspected and an antibiotic was administered, but symptoms progressed. Abdominal ultrasonography showed occlusion of the left hepatic vein and the middle hepatic vein and her D-dimer level was high. Accordingly, Budd-Chiari syndrome was diagnosed and high-dose intravenous infusion of heparin was initiated. Her abdominal symptoms improved and the levels of inflammatory parameters and D-dimer decreased rapidly. It is known that antiphospholipid syndrome can be complicated by Budd-Chiari syndrome that usually occurs as subacute or chronic onset, but acute onset is rare. It is difficult to diagnose acute Budd-Chiari syndrome complicating antiphospholipid syndrome and this complication generally has a poor outcome. However, the present case can get early diagnosis and successful treatment with tight anticoagulant therapy.

  15. First-episode 'coenesthetic' schizophrenia presenting with alien hand syndrome and partial agenesis of the corpus callosum.

    Science.gov (United States)

    Simon, Andor; Walterfang, Mark; Petralli, Carlo; Velakoulis, Dennis

    2008-01-01

    We describe the case of a 23-year-old Caucasian woman who presented with alien hand syndrome and a first episode of the coenesthetic subtype of schizophrenia. 'Alienness' of her non-dominant hand was intimately phenomenologically associated with the onset of first-psychosis. Cerebral MRI revealed a partial agenesis of the corpus callosum with a complete absence of the rostrum, hypoplastic anterior and inferior genu, and a hypoplastic splenium. This case suggests that this syndrome can occur with the development of a functional disconnection syndrome involving the anterior callosum, and in this case the 'second hit' proposed to occur in early adulthood in schizophrenia may have interacted with her earlier neurodevelopmental lesion to result in a combination of psychosis and alien hand syndrome. 2008 S. Karger AG, Basel.

  16. A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus.

    Science.gov (United States)

    Konya, Mehmet Nuri; Elmas, Muhsin; Erginoğlu, Sadık Emre; Yeşil, Murat

    2015-01-01

    Club foot (CF) is characterized by multiple deformities such as varus, adductus and internal rotation of the forefoot. It is well-known and a frequent congenital disorder. CF can concurrently be seen with several diseases but it can rarely manifest as a component of any other syndrome. Ritscher-Schinzel syndrome, or cranio-cerebello-cardiac syndrome, is rarely seen and has autosomal recessive inheritance. It is characterized by cranio-facial, cerebellar and cardiac abnormalities. We report a case diagnosed as Ritscher-Schinzel syndrome concurrent with persistent CF. A two-year-old boy with persistent CF and concurrent congenital hip dysplasia. Despite successful serial casting and subsequent achilloplasty a clinical relapse was observed in our patient. After a detailed phenotypic evaluation, genetical tests and imaging technique the patient was diagnosed 3C Ritscher-Schinzel syndrome. A comprehensive literature review did not show any reports about concurrent hip dysplasia and clubfoot in Ritscher-Schinzel syndrome. We report that CF may be associated with rare genetical abnormalities. With this report we would like to raise awareness about the possible association of persistent CF with this rare genetical disorder, Ritscher-Schinzel syndrome. It should be included in differential diagnosis of patients with persistent CF. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

  17. Superior Vena Cava Syndrome due to Thrombosis: A Rare Paraneoplastic Presentation of Bronchogenic Carcinoma

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    Avradip Santra

    2016-07-01

    Full Text Available Superior vena cava (SVC syndrome is not an uncommon occurrence in patients with malignancy and it is often described as a medical emergency. In majority of the cases, SVC syndrome occurs due to mechanical obstruction of the SVC by extraluminal compression with primary intrathoracic malignancies. However, intraluminal obstruction due to thrombosis can also produce symptoms and signs of SVC syndrome. Clot-related SVC obstruction is mostly associated with indwelling central venous catheter and pacemaker leads, although such thrombosis can occur spontaneously in a background of a hypercoagulable state, e.g., malignancy. Here, an unusual case of sudden onset SVC syndrome has been reported, which on initial radiologic evaluation was found to have a lung nodule without any significant mediastinal mass or adenopathy compressing SVC. Subsequent investigation with Doppler ultrasonography of the neck showed thrombosis in the right internal jugular, right subclavian and right brachiocephalic vein, which was responsible for SVC syndrome. Histopathological evaluation of lung nodule confirmed presence of an adenocarcinoma. Therefore, venous thromboembolism as a paraneoplastic syndrome should be kept in mind while evaluating a case of SVC obstruction in a cancer patient. Management of the underlying disease is of prime importance in such cases and anticoagulation is the mainstay of therapy. Ability to identify paraneoplastic syndrome may have a significant effect on clinical outcome, ranging from early diagnosis to improved quality of life of the patient.

  18. Cerebellar Infarction Presenting with Acute Vestibular Syndrome in Two U.S. Air Force Pilots.

    Science.gov (United States)

    Hesselbrock, Roger R

    2017-09-01

    Cerebellar infarction is an uncommon but serious cause of isolated acute vestibular symptoms, particularly in young, healthy individuals, and can easily be overlooked. We present two cases of cerebellar infarction in U.S. Air Force pilots, one of which occurred during flight. A 41-yr-old man developed acute vertigo, disequilibrium, nausea, and headache, with progressive slow symptomatic improvement, and presented to medical attention 4 d after symptom onset. Brain magnetic resonance imaging showed right inferomedial cerebellar infarction. Echocardiography discovered patent foramen ovale and atrial septal aneurysm. A 40-yr-old man developed severe vertigo, nausea, and vomiting during initial aircraft descent. Head computed tomography scan was performed acutely and was normal. Initial assessment was benign paroxysmal positional vertigo. Brain magnetic resonance imaging 1 mo after symptom onset showed a small right inferior cerebellar infarction. Patent foramen ovale and bilateral atrial enlargement were seen on echocardiography. Both pilots made full neurological recoveries and were eventually returned to flight status. Central causes of isolated acute vestibular symptoms are uncommon and are often not considered in otherwise healthy individuals. Cerebellar infarction is one of these uncommon but increasingly recognized causes of acute vestibular symptoms. As evaluation and management of central causes are much different from peripheral conditions, prompt localization confirmation is paramount. Accurate evidence-based bedside screening methods are available for rapid localization. Awareness of the possibility of central etiologies and careful clinical evaluation with application of bedside screening methods in patients with acute vestibular symptoms will reduce the number of inaccurate diagnoses.Hesselbrock RR. Cerebellar infarction presenting with acute vestibular syndrome in two U.S. Air Force pilots. Aerosp Med Hum Perform. 2017; 88(9):880-883.

  19. Outcome of poor initial TIMI flow in patients presenting with acute coronary syndrome.

    Science.gov (United States)

    Nammas, Wail; Pietilä, Mikko; Romppanen, Hannu; Sia, Jussi; DeBelder, Adam; Karjalainen, Pasi P

    2017-10-01

    We explored the predictors and outcome of poor, versus good, initial TIMI flow in patients with acute coronary syndrome (ACS). We performed post-hoc analysis of a randomized trial of patients presenting with ACS who received 2 comparative stents. Poor initial TIMI flow was defined as baseline TIMI flow grade 0/1 at the initial coronary angiography. The primary endpoint was major adverse cardiac events (MACE): a composite of cardiac death, non-fatal myocardial infarction or ischemia-driven target lesion revascularization. Stent thrombosis (ST) was adjudicated according to the criteria of definite ST described by the Academic Research Consortium. Propensity score-matched analysis was performed. We report data after 5-year follow-up. Of 827 patients enrolled, 279 (33.7%) had initial TIMI 0/1 flow. Median follow-up duration was 5.0 years. Presentation by ST-elevation myocardial infarction and target vessel other than left anterior descending artery predicted initial TIMI 0/1 flow. MACE rate was comparable between the 2 subgroups (14% versus 15.9%, in patients with poor versus good initial TIMI flow, respectively, p = .46). Individual endpoints were comparable (p > .05 for all). Definite ST was more frequent in patients with initial TIMI 0/1 flow (3.6% versus 1.5%, respectively, p = .048). This was driven by more frequent early events (30 days) (p = .036); late/very late events were comparable (p = 1.0). Predictors of poor initial TIMI flow included presentation by ST-elevation myocardial infarction, and target vessel other than left anterior descending artery. Definite ST occurred more in patients with poor, versus good, initial TIMI flow, mainly driven by difference in early events.

  20. Numb chin syndrome as a primary presentation of metastatic breast cancer

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    Jasjot Sahni

    2017-01-01

    Full Text Available Numb chin syndrome (NCS is characterized by facial neuropathy along the distribution of the mental branch of the trigeminal nerve. We report a case of NCS in a 65 year old woman who initially presented to her dentist with nonspecific symptoms that she thought were related to a tooth infection. The patient was otherwise healthy and her medical history was significant for breast cancer treated 20 years prior; her cancer was thought to be in complete remission. Upon clinical examination and conventional dental radiography, no pathology was seen such as odontogenic, periodontal, or jawbone infection. Only paresthesia and hypoesthesia was noted unilaterally in her left chin, jaw and lower lip. A computed tomography scan was obtained for further evaluation and revealed lytic metastatic disease involving the right mandible at the level of the mandibular foramen; lytic lesions of the thoracic vertebrae and multiple pulmonary nodules were also noted. Oncologic referral was made immediately which confirmed a diagnosis of metastatic breast cancer. Familiarity with NCS is important for oral health care providers in order to identify etiology and differential diagnosis, as well as to provide appropriate referral and management.

  1. Case Report: Myelodysplastic syndrome- associated myeloid sarcoma: an unusual clinical presentation of a rare disease.

    Science.gov (United States)

    Horvath, Emoke; Demian, Smaranda; Nagy, Elod

    2016-01-01

    Myeloid sarcoma results from the extramedullary homing and proliferation of immature myeloid precursors. We present the timeline, events and diagnostic pitfalls related to a 66 year-old male patient's case, admitted to the Hematology Clinic for pancytopenia, fever, weight loss and fatigue. The severe cytopenia and the few blasts observed in his blood smear indicated a bone marrow biopsy. The bone marrow showed hypercellularity and multilineage dysplasia with the presence of 15% myeloblasts. After the biopsy, he promptly developed paraplegia and nuclear magnetic resonance revealed an epidural tumour which was then resected.In the epidural tumour mass blast-like, round cells were observed with a complex immunophenotype, characterized by myeloperoxidase, CD117, CD15, CD99, leucocyte common antigen positivity and a high Ki-67 proliferation index. Considering the main differential diagnostic issues, the final diagnosis was stated as myelodysplastic syndrome-associated myeloid sarcoma. The prognosis was unfavourable, the bone marrow was quickly invaded by proliferating blast cells, and despite chemotherapy attempts, the patient died.

  2. Primary Sjogren’s Syndrome Presented with Sensory Ataxia Associated with Bilateral Hearing Loss and Dementia

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    Madjdinasab Nastaran

    2009-10-01

    Full Text Available Primary Sjorgen syndrome is one of the commonest autoimmune diseases with characteristic of involvement of lachrymal and salivary glands, but other organ involvements as peripheral and central nervous system are also possible. The reported case is a 23 year old lady presented with progressive sensory ataxia and weakness of four limbs, bilateral sensory hearing loss and cognitive impairment with minimental score equal to 15/30 since one year prior to admission with associated bilateral central corneal opacity, dry mouth and dry eyes. Electro physiologic studies showed sensory motor axonal polyneuropathy . A biopsy of sural nerve and salivary glands of lower lip showed lymphocytic infiltration. Serologic evidence showed positive Anti Ro (SS-B, negative HCV and HIV antibody, thereafter the diagnosis was confirmed and according to this diagnosis she received high dose of intravenous methyl prednisolon then both hearing loss and cognitive impairment improved partially (minimental score 21/30 . At last, she underwent plasmapheresis and her sensory ataxia improved greatly.

  3. Cognitive and behavioral functioning in Coffin-Siris syndrome and epilepsy: a case presentation.

    Science.gov (United States)

    Bender, H Allison; Zaroff, Charles M; Karantzoulis, Stella; Nakhutina, Luba; MacAllister, William S; Luciano, Daniel

    2011-01-01

    The authors characterized the cognitive, adaptive, and behavioral sequelae of Coffin-Siris (CS) syndrome and epilepsy in a 7.5-year-old child. Little is known about the early neurobehavioral presentation of CS. Clinical features consistent with this genetic anomaly include underdeveloped tips and nails of the fifth fingers, extended infranasal depression, and craniofacial abnormalities. MRI findings often reveal callosal agenesis. The authors conducted a neuropsychological evaluation and obtained parental ratings of behavioral and adaptive functioning. Attentional abilities were limited. As assessed by the Mullen Scales of Early Learning, receptive language abilities (age equivalent [AE]: 3-3) were relatively stronger than expressive skills (AE: 1-4). Adaptive functioning was low across all domains (Vineland Adaptive Behavior Composite AE: 1-9). On the Behavior Assessment for Children (BASC-2), social skills dysfunction, stereotyped and self-stimulatory behaviors, restricted interests, ritualistic play, and inappropriate object usage were noted. No significant mood disturbances were endorsed. Study findings indicate a diffuse pattern of neurobehavioral deficits in a child with CS and epilepsy. Further clinical assessment and research should include multidimensional assessment techniques, including evaluation of adaptive behavior, in an effort to capture the full range developmental sequelae in children with CS.

  4. An Unusual Presentation of Adult Tethered Cord Syndrome Associated with Severe Chest and Upper Back Pain

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    Shotaro Kanda

    2015-01-01

    Full Text Available Adult tethered cord syndrome (ATCS is a rare entity that usually presents with multiple neurological symptoms, including lower extremity pain, backache, lower extremity muscle weakness, and bowel/bladder disturbances. Prompt surgical treatment is often necessary to avoid permanent sequelae. We report a 63-year-old man with sudden-onset severe right chest and upper back pain, followed by urinary retention. His initial workup included computed tomography of the abdomen and pelvis, which showed a presacral mass. His symptom-driven neurological workup focused on the cervical and thoracic spine, the results of which were normal. Pelvic radiographs and magnetic resonance imaging of the lumbosacral spine showed spina bifida occulta, meningocele, and presacral masses consistent with a teratomatous tumor. His symptoms, except for urinary retention, improved dramatically with surgical treatment. The excised specimen contained a teratomatous lesion plus an organized hematoma. Hematoma formation was suspected as the trigger of his sudden-onset right chest and upper back pain.

  5. Muir-Torre Syndrome Presenting as Sebaceous Adenocarcinoma and Invasive MSH6-Positive Colorectal Adenocarcinoma

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    Sunil Tulpule

    2016-02-01

    Full Text Available Muir-Torre syndrome (MTS is a rare genodermatosis, diagnosed by the presence of sebaceous neoplasms along with an internal malignancy, most commonly colorectal carcinomas. MTS is most commonly caused by microsatellite instabilities of the hMLH1 and hMSH2 mismatch repair genes, and is rarely caused by mutations of the hMSH6 gene. We describe the case of a 56-year-old male who presented with an enlarging mass on his back as well as hematochezia. The back mass was excised, and pathology confirmed microsatellite instability in MSH2 and MSH6. Abdominal CT and colonoscopy confirmed the presence of synchronous masses in the cecum, ascending colon, and the transverse colon. He refused any further workup or treatment, only to return 8 months later complaining of hematochezia and discomfort due to an enlarging mass protruding from the rectum. After consenting to surgical intervention, he agreed to outpatient chemotherapy treatment. The presence of sebaceous neoplasms should raise suspicion for the possibility of an associated internal malignancy.

  6. Anti-GQ1b-negative Miller Fisher syndrome presented with one-sided horizontal gaze palsy.

    Science.gov (United States)

    Akinci, Gülçin; Oztura, Ibrahim; Hiz-Kurul, Semra

    2010-01-01

    Miller Fisher syndrome classically presents with ophthalmoplegia, ataxia and areflexia. The syndrome may present rarely with atypical clinical features. Whether the central or peripheral nervous system is primarily involved remains controversial. Miller Fisher syndrome usually follows an infection, the most likely being Campylobacter jejuni. Mycoplasma pneumoniae has been reported rarely as the antecedent infectious agent in some patients. Herein, we report a 13-year-old girl with positive mycoplasma immunoglobulin (Ig)M and IgG serology who presented with one-sided horizontal gaze palsy, ataxia, areflexia, and bulbar palsy. Her cranial magnetic resonance imaging was normal and blood serum was negative for anti-GQ1b IgG antibodies.

  7. Stress induced cardiomyopathy presenting as acute coronary syndrome: Tako-Tsubo in Mercogliano, Southern Italy

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    Salemme L

    2007-10-01

    Full Text Available Abstract Background Tako-tsubo syndrome (TTS in its typical (apical and atypical (non-apical forms is being increasingly recognized in the West owing to early systematic coronary angiography in acute coronary syndromes (ACS. Aim of the study To assess the incidence, the clinical characteristics and the outcome of TTS in a single high volume cath lab in Southern Italy over the last 6 years. Methods Among 1674 consecutive patients (pts referred to our coronary care units in the last 6 years (2001–2006 for ACS we selected 6 (0.5% pts (6 women; age 57 ± 6 years who fulfilled the following 4 criteria: 1 transient left ventricular wall motion abnormalities resulting in ballooning at contrast ventricolographic or echocardiographic evaluation; 2 normal coronary artery on coronary angiography performed 5 ± 9 hours from hospitalization; 3 new electrocardiographic ischemic-like abnormalities (either ST-segment elevation or T-wave inversion and 4 emotional or physical trigger event. Results At admission all pts had presumptive diagnosis of ACS and ECG revealed ST elevation in 3 (50% and T wave inversion with QT elongation in 3 (50%. In the acute phase cardiogenic shock occurred in 2 (33% and heart failure in 1(16%. Presenting symptoms were chest pain in 6 (100%, dyspnoea in 2 (33% and lipotimia in 1 (16%. At echocardiographic-ventricolographic assessment, the mechanical dysfunction (ballooning was apical in all 6 pts ("classic" TTS. In all patients wall motion abnormalities completely reversed within 4.5 ± 1.5 days. The region of initial recovery was the anterior and lateral wall in 4 cases and the lateral wall in 2 cases. Ejection fraction was 35 ± 8% in the acute phase and increased progressively at discharge (55 ± 6% and at 41 ± 20 months follow-up (60 ± 4%, p Conclusion Classic TTS is a frequent serendipitous diagnosis after coronary angiography showed "surprisingly" normal findings in a clinical setting mimicking an ACS. Despite its long

  8. A rare case of 3C disease: Ritscher–Schinzel syndrome presenting with recurrent talipes equinovarus

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    Mehmet Nuri Konya

    2015-01-01

    CONCLUSION: With this report we would like to raise awareness about the possible association of persistent CF with this rare genetical disorder, Ritscher–Schinzel syndrome. It should be included in differential diagnosis of patients with persistent CF.

  9. Reiter’s syndrome occurred following intravesical BCG immunotherapy: Case presentation

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    Fatih Elbir

    2015-06-01

    Full Text Available Intravesical instillation of Bacillus Calmette Guerin (BCG is used in the treatment of patients with superficial bladder carcinoma with efficacy and safety. Although clinically very effective this method is associated with a variety of side effects. In these side effects, Reiter’s Syndrome is occurred most rare. We report here the case of Reiter’s Syndrome following BCG instillation with a different clinical manifestation.

  10. Hemorrhagic gianotti-crosti syndrome in a one and half month old infant: An extremely unusual presentation

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    Nilendu Sarma

    2013-01-01

    Full Text Available Gianotti-Crosti syndrome is parainfectious exanthematous disease having unique presentation of small papulovesicular eruptions symmetrically over extensor surface of limbs and face in children. Hemorrhagic lesions are very rare and are always localized. Here, a case of EBV-induced Gianotti-Crosti syndrome with extensive hemorrhagic vesicles in a one and half month old infant, possibly induced by Epstein Barr virus, is reported. Neither the involvement of the disease at this early age nor the extensive hemorrhagic vesicles as the predominant presentation is reported before.

  11. Nephrogenic diabetes insipidus with idiopathic Fanconi′s syndrome in a child who presented as vitamin D resistant rickets

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    Soumya Patra

    2011-01-01

    Full Text Available Fanconi′s syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells occurring alone or in association with a variety of inherited (primary or acquired (secondary disorders. It is characterized by aminoaciduria, normoglycaemic glycosuria, tubular proteinuria without hematuria, metabolic acidosis without anion gap and excessive urinary excretion of phosphorous, calcium, uric acid, bicarbonate, sodium, potassium, and magnesium. Whereas diabetes insipidus is a disease of collecting tubules and child mainly presents with dehydration and hypernatremia. Though all the cases published till date were secondary to drugs, myeloma, hematological disorders, etc., we are reporting the first case of idiopathic Fanconi′s syndrome along with nephrogenic diabetes insipidus in a child who presented to us as resistant rickets. Medline search did not reveal any case of nephrogenic diabetes insipidus associated with idiopathic Fanconi syndrome. We hypothesized that the NDI may be due to of severe hypokalemia induced tubular dysfunction.

  12. Nephrogenic diabetes insipidus with idiopathic Fanconi's syndrome in a child who presented as vitamin D resistant rickets.

    Science.gov (United States)

    Patra, Soumya; Nadri, Gulnaz; Chowdhary, Harish; Pemde, Harish K; Singh, Varinder; Chandra, Jagdish

    2011-10-01

    Fanconi's syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells occurring alone or in association with a variety of inherited (primary) or acquired (secondary) disorders. It is characterized by aminoaciduria, normoglycaemic glycosuria, tubular proteinuria without hematuria, metabolic acidosis without anion gap and excessive urinary excretion of phosphorous, calcium, uric acid, bicarbonate, sodium, potassium, and magnesium. Whereas diabetes insipidus is a disease of collecting tubules and child mainly presents with dehydration and hypernatremia. Though all the cases published till date were secondary to drugs, myeloma, hematological disorders, etc., we are reporting the first case of idiopathic Fanconi's syndrome along with nephrogenic diabetes insipidus in a child who presented to us as resistant rickets. Medline search did not reveal any case of nephrogenic diabetes insipidus associated with idiopathic Fanconi syndrome. We hypothesized that the NDI may be due to of severe hypokalemia induced tubular dysfunction.

  13. Soroepidemiologia da piroplasmose equina em equinos de assentamento rural e carroceiros em regiões do Paraná

    OpenAIRE

    Thállitha Samih Wischral Jayme Vieira

    2013-01-01

    A piroplasmose equina é causada por Theileria equi e Babesia caballi, que são importantes hemoprotozoários transmitidos por carrapatos, e causam impacto mundial na indústria equina. A enfermidade pode ocorrer de forma aguda, subaguda ou crônica. A infecção subclínica é frequente em áreas endêmicas e os animais que se recuperam da infecção primária usualmente tornam-se portadores e atuam como disseminadores da doença. Devido à importância dos cavalos na manutenção da piroplasmose equina, bem c...

  14. Ehlers-danlos syndrome with platelet aggregation defect-presenting as mysterious bleeding disorder

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    Sawhney M

    2003-01-01

    Full Text Available A 7-year-old girl presented with recurrent episodes of petechiae, purpura and ecchymoses since six months of age and recurrent episodes of mild to severe epistaxis since two years of age requiring repeated blood transfusions. In April '99 while being investigated for a massive epistaxis, she was found to have platelet function defect with abnormal aggregation of platelets to ADP, epinephrine, collagen as well as to ristocetin. Further investigations ruled out the possibility of Glanzmann's disorder and von-Willebrand's disease as to its cause. In May 2001 she was referred to the dermatologist for evaluation of subcutaneous tumours, which had developed since the last six months. On clinical evaluation, she was found to be having mild hyperextensibility of the skin, joint hypermobility, atrophic scars over knee, spontaneous bruises over right forearm and left thigh and nontender firm to hard subcutaneous nodules over both wrists, both shoulders, right index finger and dorsum of right foot consistent with a clinical picture of a mild form of Ehlers-Danlos syndrome (EDS. Histopathology of the nodule from left wrist was consistent with molluscoid tumour of EDS and skin histopathology and ultrastructure studies showed thick irregular collagen fibrils. Only other sibling, a five-year-old male also had history of repeated mild to moderate epistaxis and on examination was found to have a milder variant of EDS. Born out of I degree consanguineous marriage of normal parents with mildly affected other sibling, she was diagnosed to be suffering from EDS with autosomal recessive inheritance, most probably EDS type X due to the associated platelet aggregation defect. Only one such family with EDS type X has been reported so far.

  15. Ehlers-danlos syndrome with platelet aggregation defect-presenting as mysterious bleeding disorder

    Directory of Open Access Journals (Sweden)

    Sawhney M

    2003-03-01

    Full Text Available A 7-year-old girl presented with recurrent episodes of petechiae, purpura and ecchymoses since six months of age and recurrent episodes of mild to severe epistaxis since two years of age requiring repeated blood transfusions. In April '99 while being investigated for a massive epistaxis, she was found to have platelet function defect with abnormal aggregation of platelets to ADP, epinephrine, collagen as well as to ristocetin. Further investigations ruled out the possibility of Glanzmann's disorder and von-Willebrand's disease as to its cause. In May 2001 she was referred to the dermatologist for evaluation of subcutaneous tumours, which had developed since the last six months. On clinical evaluation, she was found to be having mild hyperextensibility of the skin, joint hypermobility, atrophic scars over knee, spontaneous bruises over right forearm and left thigh and nontender firm to hard subcutaneous nodules over both wrists, both shoulders, right index finger and dorsum of right foot consistent with a clinical picture of a mild form of Ehlers-Danlos syndrome (EDS. Histopathology of the nodule from left wrist was consistent with molluscoid tumour of EDS and skin histopathology and ultrastructure studies showed thick irregular collagen fibrils. Only other sibling, a five-year-old male also had history of repeated mild to moderate epistaxis and on examination was found to have a milder variant of EDS. Born out of I degree consanguineous marriage of normal parents with mildly affected other sibling, she was diagnosed to be suffering from EDS with autosomal recessive inheritance, most probably EDS type X due to the associated platelet aggregation defect. Only one such family with EDS type X has been reported so far.

  16. Congenital Rubella Syndrome: An Overview of Clinical Presentations in Bangladeshi Children

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    Nure Ishrat Nazme

    2014-07-01

    Full Text Available Background: Congenital Rubella Syndrome (CRS has long been characterized by the triad of deafness, cataract and cardiovascular malformations with or without mental retardation. Objective: This study was conducted to observe the clinical manifestations of CRS in children of Bangladesh. Materials and method: This cross sectional study was carried out in Dhaka Shishu (Children Hospital, Dhaka, Bangladesh and National Institute of Cardiovascular Diseases (NICVD, Dhaka, Bangladesh. Total 40 cases of CRS were enrolled from indoor and outpatient departments of these two hospitals, who were diagnosed according to standard case definition. Serological test for rubella antibody, chest X-ray, colour Doppler echocardiography, visual examination and hearing assessment were done in relative specialised centres. Results: The mean(±SD age of the study subjects was 6.6(±5.7 months (range: 0-24 months. Among the subjects, 68% were male and 32% were female. Serum for rubella specific antibody revealed positive IgG in 60% cases and IgM in 28% cases. Neurological problem was the most frequently observed (90% systemic complication followed by visual problem (83%, congenital hearing loss (80% and congenital heart disease (78%. Cataract was the commonest (55% among visual problems and microcephaly (62% among neurological manifestations. Patent ductus arteriosus (PDA was the most common (37.5% isolated structural cardiac defect. Maximum (62.5% children came from poor socioeconomic status. Maternal onset of infection was commonly detected in 1st trimester of pregnancy. Conclusion: Diagnosis of CRS and recognition of its versatile pattern of clinical presentation are crucial for better prognosis of the affected children.

  17. Evolution of surfactant therapy for respiratory distress syndrome: past, present, and future.

    Science.gov (United States)

    Sardesai, Smeeta; Biniwale, Manoj; Wertheimer, Fiona; Garingo, Arlene; Ramanathan, Rangasamy

    2017-01-01

    Respiratory distress syndrome (RDS) due to surfactant deficiency is the most common cause of respiratory failure in preterm infants. Tremendous progress has been made since the original description that surfactant deficiency is the major cause of RDS. Surfactant therapy has been extensively studied in preterm infants and has been shown to significantly decrease air leaks and neonatal and infant mortality. Synthetic and animal-derived surfactants from bovine as well as porcine origin have been evaluated in randomized controlled trials. Animal-derived surfactants generally result in faster weaning of respiratory support, shorter duration of invasive ventilation, and decreased mortality when compared to first- or second-generation of synthetic surfactants, but some of the second-generation synthetic surfactants are at least not inferior to the animal-derived surfactants. Using a higher initial dose of porcine derived surfactant may provide better outcomes when compared with using lower doses of bovine surfactants, likely, due to compositional difference and/or the dose. Third-generation synthetic surfactant containing peptide analogs of surfactant protein B and C are currently being studied. Less invasive intra-tracheal surfactant administration techniques in spontaneously breathing neonate receiving noninvasive ventilator support are also being evaluated. In the present era, prophylactic surfactant is not recommended as it may increase the risk of lung injury or death. In the future, surfactants may be used as vector to deliver steroids, or used in combination with molecules, such as, recombinant Club Cell Protein-10 (rhCC-10) to improve pulmonary outcomes. Also, noninvasive surfactant administration techniques, such as aerosolization or atomization of surfactant may play a greater role in the future.

  18. Graft intolerance syndrome in children with failed kidney allografts--clinical presentation, treatment options and outcome.

    Science.gov (United States)

    Krause, Irit; Cleper, Roxana; Belenky, Alexander; Atar, Eli; Bar-Nathan, Nathan; Davidovits, Miriam

    2008-12-01

    Failed renal allografts left in situ may cause inflammation presenting as graft intolerance syndrome (GIS). There are no sufficient data regarding clinical course and treatment options of GIS in paediatric patients. A retrospective study of all children with failed renal allografts treated in Schneider's Children Medical Center of Israel during a 10-year period was conducted. Diagnosis of GIS was based on clinical criteria and persistence of renal perfusion according to radio-isotopic scan. Twenty children with failed renal allografts were studied. The mean age at transplantation was 10.3 +/- 4.9 years. The mean graft survival was 2.9 +/- 2.5 years. Two grafts were removed immediately due to vascular complications. Of the 18 patients with transplants remaining in situ, 11 (61%) developed GIS within 2.7 +/- 2.1 months after restarting dialysis. GIS manifestations included fever (91%), local tenderness (82%), hypertension (73%), abdominal pain (64%), macroscopic haematuria (27%), pulmonary congestion (27%) and enlargement of the graft (18%). Laboratory findings included anaemia, hypoalbuminaemia and elevated ESR and CRP. Three patients were successfully treated with indomethacin and/or prednisone. In one patient the graft was surgically removed due to suspected post-transplantation lymphoproliferative disorder. Seven patients underwent percutaneous embolization of the graft, and in six patients a complete resolution of symptoms occurred within 32.2 +/- 45 days. Complications included abscess and retinal artery thrombosis. Six patients were successfully re-transplanted, three are still on haemodialysis and two died of causes unrelated to GIS. GIS may be common among children with failed renal allografts. Percutaneous embolization of the graft seems effective and safe. Further studies are needed to evaluate late outcome of paediatric patients with GIS.

  19. Hyponatremic hypertensive syndrome (HHS) in an 18-month old-child presenting as malignant hypertension: a case report

    OpenAIRE

    Theodorou Andreas; Hughes John D; Dixit Mehul P; Dixit Naznin M

    2004-01-01

    Abstract Background The combination of hyponatremia and renovascular hypertension is called hyponatremic hypertensive syndrome (HHS). Malignant hypertension as a presentation has been reported in adults with HHS but is rare in children. Case presentation An eighteen month-old male presented with drowsiness, sudden onset status epilepticus and blood pressure of 210/160. The electrolytes on admission revealed sodium of 120 mEq/L and potassium of 2.1 mEq/L. The peripheral renin activity (PRA) wa...

  20. BASAL CELL NEVUS SYNDROME PRESENTING AS EPIRETINAL MEMBRANE AND MYELINATED NERVE FIBER LAYER.

    Science.gov (United States)

    Farley, Nathan D; Sassalos, Thérèse M; Ober, Michael D

    2017-01-01

    To report a case of epiretinal membrane and myelinated nerve fiber layer, which preceded the diagnosis of basal cell nevus syndrome, in a young girl. Observational case report. A 12-year-old girl was referred for an asymptomatic epiretinal membrane. Examination revealed epiretinal membrane in the right eye without posterior vitreous separation or vitreous abnormality and bilateral myelinated nerve fiber layer. Subsequent workup yielded pathologic diagnosis of multiple skin basal cell carcinoma and odontogenic keratocysts in the jaw. Genetic testing revealed a frameshift mutation in the PTCH1 gene. Basal cell nevus syndrome is a rare autosomal dominant disease that affects multiple organ systems, including the eyes. Recognition of common ocular findings in children with basal cell nevus syndrome can lead to systemic diagnosis. Early diagnosis is critical to initiate early screening for known neoplastic associations and lifelong minimization of sun exposure to reduce the incidence and severity of basal cell carcinoma.

  1. Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations

    DEFF Research Database (Denmark)

    Meeths, Marie; Bryceson, Yenan T; Rudd, Eva

    2010-01-01

    Griscelli syndrome type 2 (GS2) is an autosomal-recessive immunodeficiency caused by mutations in RAB27A, clinically characterized by partial albinism and haemophagocytic lymphohistocytosis (HLH). We evaluated the frequency of RAB27A mutations in 21 unrelated patients with haemophagocytic syndromes...... without mutations in familial HLH (FHL) causing genes or an established diagnosis of GS2. In addition, we report three patients with known GS2. Moreover, neurological involvement and RAB27A mutations in previously published patients with genetically verified GS2 are reviewed....

  2. Christ-Siemens-Touraine Syndrome with Self-mutilation Habit: An Unusual Presentation.

    Science.gov (United States)

    Kayalvizhi, Gurusamy; Neeraja, R

    2009-01-01

    Ectodermal dysplasia exhibits a classic triad of hypohidrosis, hypotrichosis, and hypodontia. Self- mutilation could be due to organic or functional causes. The occurrence of selfmutilation with functional cause represents a diagnostic challenge to practitioners. In most of the instances dentists are the first to recognize patient with ectodermal dysplasia as they report primarily with a complaint of missing teeth. The most common type is hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). A thorough knowledge of this disease with multidisciplinary approach aids in successful outcome of the treatment. This is an unusual case report of Christ-Siemens-Touraine syndrome with selfmutilation.

  3. Christ-Siemens-Touraine Syndrome with Self-mutilation Habit: An Unusual Presentation

    Science.gov (United States)

    Kayalvizhi, Gurusamy; Neeraja, R

    2009-01-01

    Ectodermal dysplasia exhibits a classic triad of hypohidrosis, hypotrichosis, and hypodontia. Self- mutilation could be due to organic or functional causes. The occurrence of selfmutilation with functional cause represents a diagnostic challenge to practitioners. In most of the instances dentists are the first to recognize patient with ectodermal dysplasia as they report primarily with a complaint of missing teeth. The most common type is hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). A thorough knowledge of this disease with multidisciplinary approach aids in successful outcome of the treatment. This is an unusual case report of Christ-Siemens-Touraine syndrome with selfmutilation. PMID:25206102

  4. Clinical presentation and chiropractic treatment of Tietze syndrome: A 34-year-old female with left-sided chest pain

    National Research Council Canada - National Science Library

    Gijsbers, Eefje; Knaap, Simone F.C

    2011-01-01

    ... of chiropractic care in managing this patient with Tietze syndrome. Case report A 34-year-old woman presented with chest pain of 2 months' duration, which started while driving. In the car, the patient experienced a sudden onset of left-sided chest pain, which felt as a knife stabbing along with a crushing sensation, unlike any pain she experienced befor...

  5. Concurrent presentation of hemolytic uremic syndrome in two adult siblings : effects of plasma therapy on hemolysis and renal function

    NARCIS (Netherlands)

    von Gameren, I I; Rensma, P L; Zijlstra, J G; de Wolf, J; de Jong, Paul

    1994-01-01

    We describe 2 sisters who presented with the hemolytic uremic syndrome (HUS) almost simultaneously. In both patients an upper airway infection with Haemophilus influenzae immediately preceding HUS may have been the environmental trigger. Fresh plasma infusion had only minor therapeutic effects but

  6. Massive hemoptysis and deep venous thrombosis presenting in a woman with Hughes-Stovin syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Al-Jahdali Hamdan

    2010-04-01

    Full Text Available Abstract Introduction Hughes-Stovin syndrome is a very rare disease with fewer than 30 cases reported in the literature. The disease is thought to be a variant of Behcet's disease and is defined by the presence of pulmonary artery aneurysm in association with peripheral venous thrombosis. Case presentation A previously healthy 23-year-old Saudi woman presented with massive hemoptysis a day prior to her admission to our hospital. She had a six-month history of recurrent fever, cough, dyspnea, and recurrent oral ulceration. Contrast-enhanced computed tomography scan of her chest and pulmonary angiogram demonstrated a single right-lower lobe pulmonary artery aneurysm. She underwent thoracotomy and right lower lobe resection. Her postoperative course was complicated by deep vein thrombosis. She also developed headache and papilledema, while a magnetic resonance imaging of her brain suggested vasculitis. Based on these clinical presentations, she was diagnosed and treated with Hughes-Stovin syndrome. Conclusion The majority of cases of Hughes-Stovin syndrome are reported among men, with only two cases occurring in women. A case of Hughes-Stovin syndrome occurring in a woman is presented in this report. She was treated successfully with multimodality treatment that includes surgery, steroids and cytotoxic agents.

  7. Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5.

    Science.gov (United States)

    Kolarova, Hana; Liskova, Petra; Tesarova, Marketa; Kucerova Vidrova, Vendula; Forgac, Martin; Zamecnik, Josef; Hansikova, Hana; Honzik, Tomas

    2016-12-01

    Leber hereditary optic neuropathy (LHON) and mitochondrial encephalopathy, myopathy, lactic acidosis and stroke-like episodes (MELAS) syndromes are mitochondrially inherited disorders characterized by acute visual failure and variable multiorgan system presentation, respectively. A 12-year-old girl with otherwise unremarkable medical history presented with abrupt, painless loss of vision. Over the next few months, she developed moderate sensorineural hearing loss, vertigo, migraines, anhedonia and thyroiditis. Ocular examination confirmed bilateral optic nerve atrophy. Metabolic workup documented elevated cerebrospinal fluid lactate. Initial genetic analyses excluded the three most common LHON mutations. Subsequently, Sanger sequencing of the entire mitochondrial DNA (mtDNA) genome was performed. Whole mtDNA sequencing revealed a pathogenic heteroplasmic mutation m.13046T>C in MTND5 encoding the ND5 subunit of complex I. This particular variant has previously been described in a single case report of MELAS/Leigh syndrome (subacute necrotizing encephalopathy). Based on the constellation of clinical symptoms in our patient, we diagnose the condition as LHON/MELAS overlap syndrome. We describe a unique presentation of LHON/MELAS overlap syndrome resulting from a m.13046T>C mutation in a 12-year-old girl. In patients with sudden vision loss in which three of the most prevalent LHON mitochondrial mutations have been ruled out, molecular genetic examination should be extended to other mtDNA-encoded subunits of MTND5 complex I. Furthermore, atypical clinical presentations must be considered, even in well-described phenotypes.

  8. [Neonatal presentation of Prader-Willi syndrome: A report of five cases].

    Science.gov (United States)

    Richard-De Ceaurriz, B; Leymarie, C; Godefroy, A; Collignon, P; Sigaudy, S; Truc, P

    2017-11-01

    Prader-Willi syndrome (PWS) is a fingerprint disease caused by the loss of paternally inherited chromosome 15q11.2-q13. In several populations studied, prevalence is estimated to be from 1/10,000 to 1/25,000 births. The disease initially manifests by neonatal hypotonia associated with orality disorders. Secondly, hyperphagia appears with significant obesity and hypogonadism. Motor milestones and language development are delayed, and all individuals have variable degrees of cognitive disability during childhood. Frequently, the most prominent features do not become evident until the later childhood stage, which can lead to underdiagnosis or late diagnosis in early childhood. Because of the long-term implications of this syndrome, it is important to recognize its features as soon as possible so that early counseling of parents and the affected child is possible. The diagnosis is suspected on clinical grounds and confirmed by genetic analysis. Prenatal diagnosis is possible and can be considered in polyhydramnios, decreased fetal active movements, malpresentation, oddly positioned hands and feet, and abnormal fetal heart rhythm. Since PWS can also lead to complications in both pregnancy and labor, proper prenatal diagnosis can also help optimize perinatal care for affected children. We report a series of five newborns for whom PWS was diagnosed in the neonatal period over 6 years. During this period, no prenatal signs of PWS were detected. The incidence in our population was 1/7937 births. The disease was diagnosed on clinical criteria: severe hypotonia, failure to thrive with poor sucking, and dysmorphic and abnormalities of the genitalia. Polyhydramnios was observed in only one case. The delivery was normal for only one patient. All except one were term newborns. There were three males and two females. We noted abnormal fetal heart rate for 80 % of the patients. The birth weight was close to the 10th percentile for two patients, less than the 3rd

  9. Hereditary motor and sensory neuropathy with hypertrophy of the cauda equina and concomitant demyelinating white matter lesions

    Energy Technology Data Exchange (ETDEWEB)

    Ertl-Wagner, B.B.; Staebler, A.; Reiser, M. [Univ. Muenchen (Germany). Inst. fuer Klinische Radiologie; Helmchen, C. [Univ. Luebeck (Germany). Klinik fuer Neurologie; Fassmann, F. [Zentrum fuer Radiologie und Nuklearmedizin, Erlangen-Nuernberg (Germany)

    2005-07-01

    Hereditary motor and sensory neuropathy (HMSN) is thought to almost exclusively affect the peripheral nervous system. We report the case of a 48-year-old patient with a longstanding history of HMSN type I who developed signs and symptoms of a cauda equina compression and of a central nervous system relapsing-remitting demyelinating white matter disease. Gross enlargement of the cauda equina fibers was detected by MR imaging of the lumbar spine. Cranial MR imaging revealed demyelinating white matter lesions. This case suggests that peripheral neuropathic mechanisms may also affect the central myelin in HMSN type I.

  10. Bronchiolitis obliterans organising pneumonia syndrome presenting with neutrophilia in bronchoalveolar lavage fluid after breast-conserving therapy.

    Science.gov (United States)

    Chiba, Sahoko; Jinta, Torahiko; Chohnabayashi, Naohiko; Fujie, Toshihide; Sumi, Yuki; Inase, Naohiko

    2012-03-20

    A 61-year-old female presented with a dry cough and fever 4 months after tangential radiation therapy (RT) following conserving surgery for breast cancer. Chest radiography and CT demonstrated consolidation with air bronchogram outside the irradiated area. Neutrophil granulocytes were abundant in bronchoalveolar lavage fluid (BALF) (39.6% of total cells), and transbronchial lung biopsy revealed organising pneumonia (OP) histologically. Antibiotic therapy had no effect, but corticosteroid therapy brought about clinical improvement. Her condition was diagnosed as bronchiolitis obliterans OP (BOOP) syndrome. Lymphocytic BALF has been identified as a characteristic of BOOP syndrome induced after RT for breast cancer. The BALF in this case, however, was neutrophilic. In our analysis of differential cell counts in the BALF of 24 patients with BOOP syndrome, the BALF was neutrophilic (>5%) in 16 (76%) cases, and the neutrophilia was severe in some of those patients.

  11. Neurinoma of the cauda equina misdiagnosed as prolapsed lumbar disk. Report of three cases.

    Science.gov (United States)

    Palma, L; Mariottini, A; Muzii, V F; Bolognini, A; Scarfò, G B

    1994-09-01

    The authors report three cases of neurinoma of the cauda equina initially misdiagnosed as prolapsed lumbar disk. Computed Tomography failed to reveal the tumour, while showing evidence of disk-degenerative patology and being thus misleading. Similar cases are reported in literature. After a thorough analysis of the causes of such an apparently gross error, it is concluded that the main source of pitfalls arises from neglecting those typical clinical features differentiating prolapsed disk from oncogenetic sciatica. When oncogenetic sciatica is suspected Computed Tomography is inappropriate and even misleading, while the elective investigation is Magnetic Resonance.

  12. Hamman and Boerhaave syndromes - diagnostic dilemmas in a patient presenting with hyperemesis gravidarum: a case report.

    Science.gov (United States)

    Buchanan, Gordon M; Franklin, Vivian

    2014-11-01

    Hyperemesis gravidarum describes persistent vomiting leading to fluid and electrolyte imbalance. It is the commonest reason for admission in the first half of pregnancy. We describe a case of Hamman syndrome secondary to hyperemesis gravidarum. We also discuss Boerhaave syndrome: a particularly rare condition with only a handful of cases being described in the literature. A 17 year old admitted with hyperemesis gravidarum was diagnosed with Hamman syndrome after complaining of chest pain due to the presence of subcutaneous emphysema and pneumomediastinum on chest radiograph. She was treated conservatively for potential ruptured oesophagus but then self-discharged against medical advice. Subcutaneous emphysema is an alarming finding in any pregnancy and should be treated in a timely and cautious manner. This case report adds weight to the previous literature advocating a conservative versus surgical approach to the management of a woman with Hamman syndrome secondary to hyperemesis gravidarum. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

  13. Bloom syndrome does not always present with sun-sensitive facial erythema

    NARCIS (Netherlands)

    Bouman, Arjan; van Koningsbruggen, Silvana; Karakullukcu, M. Bariş; Schreuder, Willem Hans; Lakeman, Phillis

    2017-01-01

    Bloom syndrome is an autosomal recessive condition characterized by severe pre- and postnatal growth deficiency, immunodeficiency, an increased risk for malignancies, craniofacial dysmorphisms, and "typical" erythematous sun-sensitive skin lesions of the face. This facial rash has a butterfly-shaped

  14. Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases.

    Science.gov (United States)

    Hills, Christine B; Kochilas, Lazaros; Schimmenti, Lisa A; Moller, James H

    2011-10-01

    Ellis-van Creveld (EVC) syndrome is a rare genetic abnormality that has been linked to a mutation in the EVC or EVC2 genes. Common atrium (CA) is an uncommon cardiac malformation, and yet it is commonly found in patients with EVC. We performed a retrospective review of the cases submitted to the Pediatric Cardiac Care Consortium (PCCC) between 1982 and 2007. A review of the English-language literature for previously published cases, as well as current genetic research findings, was also performed. Thirty-two pediatric patients with congenital heart disease (CHD) and EVC syndrome were identified in the PCCC database. Twenty-eight (88%) had an endocardial cushion defect, with 15 of these having primary failure of atrial septation resulting in CA. Persistent left superior vena cava (LSVC) and pulmonary venous connection abnormalities were common. The incidence of persistent LSVC and pulmonary venous abnormalities were greater than previously reported for patients with EVC. Our study reviews the reported literature and adds 32 additional cases from the PCCC database. Review of the cardiac phenotype in patients with EVC syndrome reveals a characteristic pattern of atrioventricular canal defects with systemic and pulmonary venous abnormalities. The frequent association of these abnormalities is strongly reminiscent of the cardiac phenotype found in patients with heterotaxy syndromes. Emerging molecular and developmental studies suggest that EVC and EVC2 proteins may be important for cilia function, which is implicated in the pathogenesis of heterotaxy syndromes. It is speculated that coordinate function between the EVC proteins is required for a cilia-dependent cardiac morphogenesis.

  15. Past and present in abdominal surgery management for Cushing’s syndrome

    Directory of Open Access Journals (Sweden)

    Ramon Vilallonga

    2014-03-01

    Full Text Available Introduction: Data on specific abdominal surgery and Cushing’s syndrome are infrequent and are usually included in the adrenalectomy reports. Current literature suggests the feasibility and reproducibility of the surgical adrenalectomies for patients diagnosed with non-functioning tumours and functioning adrenal tumours including pheochromocytoma, Conn’s syndrome and Cushing’s syndrome. Discussion: Medical treatment for Cushing’s syndrome is feasible but follow-up or clinical situations force the patient to undergo a surgical procedure. Laparoscopic surgery has become a gold standard nowadays in a broad spectrum of pathologies. Laparoscopic adrenalectomies are also standard procedures nowadays. However, despite the different characteristics and clinical disorders related to the laparoscopically removed adrenal tumours, the intraoperative and postoperative outcomes do not significantly differ in most cases between the different groups of patients, techniques and types of tumours. Tumour size, hormonal type and surgeon’s experience could be different factors that predict intraoperative and postoperative complications. Transabdominal and retroperitoneal approaches can be considered. Outcomes for Cushing’s syndrome do not differ depending on the surgical approach. Novel technologies and approaches such as single-port surgery or robotic surgery have proven to be safe and feasible. Conclusion: Laparoscopic adrenalectomy is a safe and feasible approach to adrenal pathology, providing the patients with all the benefits of minimally invasive surgery. Single-port access and robotic surgery can be performed but more data are required to identify their correct role between the different surgical approaches. Factors such as surgeon’s experience, tumour size and optimal technique can affect the outcomes of this surgery.

  16. Immune network analysis of cerebrospinal fluid in myalgic encephalomyelitis/chronic fatigue syndrome with atypical and classical presentations

    OpenAIRE

    Hornig, M; Gottschalk, C G; Eddy, M L; Che, X; Ukaigwe, J E; Peterson, D L; Lipkin, W. I.

    2017-01-01

    Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a persistent and debilitating disorder marked by cognitive and sensory dysfunction and unexplained physical fatigue. Classically, cases present after a prodrome consistent with infection; however, some cases are atypical and have a different presentation and comorbidities that pose challenges for differential diagnosis. We analyzed cerebrospinal fluid (CSF) from 32 cases with classical ME/CFS and 27 cases with atypical ME/CFS usin...

  17. Guillian-Barre syndrome as the initial presentation of systemic lupus erythematosus--case report and review of literature.

    Science.gov (United States)

    Nadri, Quaid; Althaf, Mohammed Mahdi

    2015-01-01

    A number of neurological entities have been associated with systemic lupus erythematosus (SLE). Gullian-Barre syndrome (GBS) as a presenting feature of SLE remains uncommon with just 9 cases reported in the last half-century with the first case reported in 19641-9 (Table 1). We report a young female presenting with GBS in whom SLE and WHO class V lupus nephritis (LN) was subsequently diagnosed. The neurological symptoms partially responded to pulse methylprednisone, intravenous immunoglobulin (IVIG) and plasmapheresis.

  18. [A case of Kennedy-Alter-Sung (KAS) syndrome presenting as hypersexuality and elevated serum CK: usefulness of genetic analysis].

    Science.gov (United States)

    Hokezu, Y; Yanai, S; Nagai, M; Nagamatsu, K; Yamamoto, Y

    1996-03-01

    We report a unique case of KAS syndrome presenting as hypersexuality and elevated serum creatine kinase (CK). None of the other members of the patient's family had KAS. The patient had engaged in sexual behavior 4 approximately 5 times a week since his marriage. He did not have gynecomastia or hepatomegaly. Neurological examination revealed facial twitching and tongue atrophy and fasciculations. Mild to moderate muscular atrophy and weakness were evident in the proximal portion of the upper and the distal portion of the lower extremities. Deep tendon reflexes were absent, as were sensory disturbance and sphincter dysfunction. Laboratory data showed mild elevation of transaminase (GOT 113 U/L, GPT 69 U/L) and extreme elevation of CK (4,600 U/L) in serum. Electromyography and muscle biopsy from the left biceps showed chronic neurogenic atrophy. Genetic analysis showed increased expansion of a CAG repeat (44 repeats) in exon 1 of the androgen receptor gene. We diagnosed KAS syndrome based on the genetic analysis. This case is important in illustrating the clinical varieties of KAS syndrome, as well as the importance of genetic analysis in KAS syndrome cases presenting with atypical manifestations and without a family history.

  19. Inversion of chromosome 7q22 and q36 as a sole abnormality presenting in myelodysplastic syndrome: a case report.

    Science.gov (United States)

    Kaneko, Hiroto; Shimura, Kazuho; Kuwahara, Saeko; Ohshiro, Muneo; Tsutsumi, Yasuhiko; Iwai, Toshiki; Horiike, Shigeo; Yokota, Shouhei; Ohkawara, Yasuo; Taniwaki, Masafumi

    2014-08-05

    Deletions of chromosome 7 are often detected in myelodysplastic syndrome. The most commonly deleted segments are clustered at band 7q22. A critical gene is therefore suggested to be located in this region. We report a patient with myelodysplastic syndrome whose marrow cells carried an inversion of 7q22 and q36 as a sole karyotypic abnormality. How this extremely rare chromosomal aberration contributes to the pathogenesis of myelodysplastic syndrome should be clarified by accumulating clinical data of such cases. A 74-year-old Japanese man presented with pancytopenia incidentally detected by routine medical check-up. His complete blood cell counts revealed that his white blood cells had decreased to 2100/mm3, neutrophils 940/mm3, red blood cells 320×104/mm3, hemoglobin 11.1g/dL, hematocrit 33.1%, and platelets 12.6×104/mm3. Bone marrow examination showed normal cellularity with nucleated cells of 9.4×104/mm3. The proportion of blasts was 4%. A morphological examination showed only basophilic stippling of erythroblasts which was seen as dysplasia. According to World Health Organization classification, the diagnosis was myelodysplastic syndrome-u. Karyotypic analysis showed 46,XY,inv(7)(q22q36) in all of 20 metaphases examined. Additional analysis revealed the karyotype of his lymphocytes was 46,XY. He is asymptomatic and cytopenia has slowly progressed. To the best of our knowledge, this karyotype from a clinical sample of de novo malignancies has never been documented although the identical karyotype from secondary myelodysplastic syndrome was reported. Despite the extremely low frequency, inversion of 7q22 appears to play a crucial role for myelodysplastic syndrome in this patient.

  20. A case of orthostatic tachycardia syndrome presenting with panic attack during tilt table testing.

    Science.gov (United States)

    Kataoka, H

    2011-01-01

    A 26-year-old woman experienced syncope on standing 2-3 times a year for more than 15 years. The attack was typically associated with palpitations and frequently accompanied by a feeling of intense fear. The patient underwent head-up tilt table testing at 70° for 40 min to determine the cause of the syncope. The tilt test results suggested that the etiology of the syncope was orthostatic tachycardia syndrome complicated by panic attack-associated hypocapnic hyperventilation, which presumably caused a greater degree of deep cerebral hypoperfusion than would be expected with orthostatic tachycardia syndrome alone, ultimately leading to the patient's symptoms, including syncope. In conclusion, monitoring the ventilation and/or arterial CO(2) level during head-up tilt table testing is occasionally required when evaluating patients with postural syncope. Copyright © 2011 S. Karger AG, Basel.

  1. A case of acute autoimmune hepatitis presenting after incomplete-type CREST syndrome and chronic thyroiditis.

    Science.gov (United States)

    Himoto, Takashi; Nomura, Takako; Tani, Joji; Miyoshi, Hisaaki; Morishita, Asahiro; Yoneyama, Hirohito; Kurokohchi, Kazutaka; Kushida, Yoshio; Watanabe, Seishiro; Masaki, Tsutomu

    2014-09-01

    A 55-year-old woman was admitted to our hospital with acute hepatitis of unknown origin. She had a history of incomplete-type CREST (calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome and chronic thyroiditis approximately 10 years earlier. Although she achieved spontaneous remission without treatment, she was re-admitted 18 months later due to recurrent liver dysfunction. Liver biopsy was performed as we strongly suspected autoimmune hepatitis despite her normal serum immunoglobulin G level. Liver biopsy findings were histologically compatible with autoimmune hepatitis, and administering prednisolone (30 mg/day) led to a prompt recovery of her liver dysfunction. No relapse occurred during the tapering of prednisolone to a maintenance dose of 5 mg/day. Here we report a rare case of autoimmune hepatitis in a patient with a history of incomplete-type CREST syndrome and chronic thyroiditis.

  2. An unusual case of Sweet syndrome in a child: overlapping presentation with erythema elevatum diutinum.

    Science.gov (United States)

    Wang, Tingting; Liu, Hongjie; Wang, Lin; Guo, Zaipei; Li, Li

    2014-06-01

    In 1964, Sweet described an acute febrile neutrophilic dermatosis. It is now widely accepted that Sweet syndrome is one of the associated neutrophilic dermatoses. Herein, we describe an unusual case of Sweet syndrome in a 5-year-old child who suffered from recurrent papules, plaques, and blisters on his face and trunk after the initial onset of fever without an obvious cause. Two skin biopsies were performed. The histopathological findings of the left arm biopsy showed a subepidermal blister with dense infiltrating neutrophils within the blister that were superficial to the middle layer of the dermis. The biopsy from a plaque on the left leg showed a dense infiltrate of neutrophils and a large number of infiltrating histiocytes superficial to the middle layer of the dermis. Direct immunofluorescence of a skin biopsy from the left arm confirmed that immunoglobulin M (IgM), IgG, IgA, and C3 expression were negative.

  3. Herlyn-Werner-Wunderlich Syndrome With Preterm Pregnancy The Presentation Of A Rare Case

    OpenAIRE

    Rusda, Muhammad

    2015-01-01

    Background: Herlyn-Werner-Wunderlich (HWW) syndrome is a very rare congenital anomaly of the urogenital tract involving Mullerian ducts and Wolffian structures, and characterized by the triad of didelphys uterus, obstructed hemivagina and ipsilateral renal agenesis. It generally occurs at puberty and exhibits non-specific and variable symptoms with acute or pelvic pain right before menarche, causing a delay in diagnosis. Moreover, the diagnosis is complicated by the infrequency...

  4. Frightening visual hallucinations: atypical presentation of Charles Bonnet syndrome triggered by the Black Saturday bushfires.

    Science.gov (United States)

    Vukicevic, Meri

    2010-08-02

    Charles Bonnet syndrome (CBS) is a disorder in which psychologically normal people, often with vision impairment, experience complex visual hallucinations. The hallucinations are purely visual and do not occur in any other sensory modality, and people with CBS have full insight into the unreal nature of the hallucinations. This report describes the case of a CBS sufferer who experienced a distressing change in the nature of her visual hallucinations following a stressful event--the Black Saturday bushfires of February 2009.

  5. Haemophagocytic syndrome in an adult suffering from pyrexia of unknown origin: an uncommon presentation of tuberculosis: a case report.

    Science.gov (United States)

    Haque, Wasim Md Mohosin Ul; Shuvo, Md Erfanur Rahman; Rahim, Muhammad Abdur; Mitra, Palash; Samad, Tabassum; Haque, Jalaluddin Ashraful

    2017-02-27

    Tuberculosis is common, can involve various organs of the body and may have diverse presentations. Haemophagocytic syndrome is one of the rare presentations of tuberculosis carrying a very high mortality. Early detection and institution of anti-tuberculosis medications can be life-saving. A 23-year-old Bengali man presented with prolonged fever, weight loss, hepatosplenomegaly, pancytopenia and altered liver function. He had high erythrocyte sedimentation rate, positive tuberculin test, granuloma in liver biopsy, and haemophagocytosis was evidenced by histopathological examination of bone marrow. He recovered with anti-tuberculosis therapy. This case demonstrates that consideration of tuberculosis as an underlying cause of haemophagocytic syndrome could be rewarding and life-saving in this rapidly fatal condition.

  6. A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty

    National Research Council Canada - National Science Library

    Koçyiğit, Cemil; Sarıtaş, Serdar; Çatlı, Gönül; Onay, Hüseyin; Dündar, Bumin Nuri

    2016-01-01

    Partial androgen insensitivity syndrome (PAIS) typically presents with micropenis, perineoscrotal hypospadias, and a bifid scrotum with descending or undescending testes and gynecomastia at puberty...

  7. A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty

    National Research Council Canada - National Science Library

    Cemil Koçyigit; Serdar Saritas; Gönül Çatli; Hüseyin Onay; Bumin Nuri Dündar

    2016-01-01

      Partial androgen insensitivity syndrome (PAIS) typically presents with micropenis, perineoscrotal hypospadias, and a bifid scrotum with descending or undescending testes and gynecomastia at puberty...

  8. Atypical Presentation of Intracardiac Floating Thrombi in Hypereosinophilic Syndrome Complicated With Stroke and Systemic Embolization: A Case Report.

    Science.gov (United States)

    Lai, Chih-Hung; Chang, Szu-Ling; Lin, Wei-Wen; Hsiung, Ming-Chon; Juan, Yu-Hsiang; Wang, Tzu-Lin

    2015-10-01

    Hypereosinophilic syndrome (HES) describes a disorder characterized by persistent peripheral blood eosinophilia with evidence of multiple target organs damage caused by eosinophilia. HES most commonly involves the heart, and cardiac involvement typically presents in the form of endomyocarditis or myocarditis with apical mural thrombus formation.We present a case with atypical cardiac presentation with massive intracardiac fragile thrombi, causing peripheral emboli and strokes.HES can present as floating thrombi with thin attachment to the left ventricle, and clinicians should also be vigilant of thromboembolic complications and initiate early therapy to prevent or reduce the potential complications of HES.

  9. Elderly women with metabolic syndrome present higher cardiovascular risk and lower relative muscle strength

    Energy Technology Data Exchange (ETDEWEB)

    Farias, Darlan Lopes; Tibana, Ramires Alsamir; Teixeira, Tatiane Gomes; Vieira, Denis César Leite; Tarja, Vitor; Nascimento, Dahan da Cunha; Silva, Alessandro de Oliveira [Universidade Católica de Brasília, Brasília, DF (Brazil); Funghetto, Silvana Schwerz [Universidade de Brasília, Brasília, DF (Brazil); Coura, Maritza Alves de Sousa; Valduga, Renato [Universidade Católica de Brasília, Brasília, DF (Brazil); Karnikowski, Margô Gomes de Oliveira [Universidade de Brasília, Brasília, DF (Brazil); Prestes, Jonato [Universidade Católica de Brasília, Brasília, DF (Brazil)

    2013-07-01

    To compare the metabolic, anthropometric, arterial blood pressure, and muscle strength parameters of elderly women with and without metabolic syndrome. A case-control study with 27 (67.3±4.8 years of age, 31.0±5.0kg/m{sup 2}) elderly women with metabolic syndrome and 33 (68.8±5.6 years of age, 27.2±5.3kg/m{sup 2}) sedentary control elderly women. They were submitted to an evaluation of body composition by means of dual-energy X-ray absorptiometry and muscle strength testing with 10 maximal repetitions of knee extension. When compared to the elderly women without metabolic syndrome, those with the metabolic syndrome had higher levels for body mass (72.2±13.5 versus 63.4±14.6kg, p=0.03), body mass index (31.0±5.0 versus 27.2±5.3kg/m{sup 2,} p=0.007), fat mass (30.9±9.9 versus 24.4±8.5kg, p=0.01), systolic arterial pressure (125.1±8.2 versus 119.3±8.7mmHg, p=0.01), diastolic arterial pressure (75.5±6.9 versus 71.4±6.7mmHg, p=0.03), mean arterial pressure (92.5±6.2 versus 87.1±6.7mmHg, p=0.004), blood glucose (103.8±19.1 versus 91.1±5.9mg/dL, p=0.001), triglycerides (187.1±70.2 versus 116.3±36.7mg/dL, p=0.001), and creatine kinase (122.6±58.6 versus 89.8±32.5U/L, p=0.01); lower levels were found for fat-free mass (55.9±5.8 versus 59.3±6.7%; p=0.05), HDL-C (40.7±5.0 versus 50.5±10.1mg/dL, p=0.001), and relative muscle strength (0.53±0.14 versus 0.62±0.12, p=0.01). Elderly women with metabolic syndrome have a higher cardiovascular risk and less relative muscle strength when compared to those without metabolic syndrome. Relative muscle strength may be related to the cardiovascularr risk factors of the metabolic syndrome.

  10. Dynamic MRI for evaluation of lumbar canal stenosis. Observation of hemodynamics in cauda equina

    Energy Technology Data Exchange (ETDEWEB)

    Suzuki, Yoshihiko; Kobayashi, Shigeru; Yoshizawa, Hidezo; Nakai, Sadaaki; Shizu, Naoyuki [Fujita Health Univ., Toyoake, Aichi (Japan). School of Medicine; Hayakawa, Katsuhiko; Nakane, Takashi

    1997-04-01

    Hemodynamics in cauda equina was studied in 12 patients with dynamic MRI to see the pathology of intermittent claudication with lumbar canal stenosis. Ten control subjects had neither limp nor apparent stenosis as observed by roentgenography and MRI. Before and after dynamic MRI, ordinary MRI was performed by spin echo method with Hitachi MRP 2000 (0.3 T) with conditions of: T1 weight TR/TE=570/25 msec; T2 weight TR/TE 4250/117 msec; slice thickness 7 mm; matrix 256 x 256. Dynamic MRI was performed by gradient echo method 0.5, 1, 1.5, 2, 4, 6, 8 and 10 min after bolus intravenous injection of gadolinium diethylene triquamine penta-acetic acid with conditions of: flip angle 70deg; TR=60 msec; slice 7 mm; matrix 256 x 224. Dynamic MRI was evaluated by the image analyzer equipped in the MRI apparatus on the ROI to compute the signal intensity (SI) ratio (SI after contrasting-SI before contrasting/SI before contrasting) to give the time intensity curve. Followings were observed and discussed: significance of dynamic MRI in the subject disease, cross areas of dura tube in lumbar canal stenosis, hemodynamics in cauda equina, mechanisms of nerve root edema development and its significance, and mechanisms of appearance of intermittent claudication. (K.H.)

  11. Surto de encefalomielite equina Leste na Ilha de Marajó, Pará

    Directory of Open Access Journals (Sweden)

    Karinny F. Campos

    2013-04-01

    Full Text Available Nove casos de encefalomielite equina foram estudados na Ilha de Marajó, estado do Pará, Brasil. Os equinos apresentavam dificuldade em se manter em estação, andavam em círculo, tinham acentuada depressão, pálpebras cerradas, paralisia da língua, tremores musculares, bruxismo, anorexia e desidratação. Alguns apresentavam diminuição dos reflexos auricular, palpebral, de ameaça, diminuição do tônus da língua e taquicardia. Posição de auto-auscultação foi observada com frequência. Os animais muitas vezes eram encontrados apoiados em troncos e cercas para se manterem em estação. À necropsia verificou-se hemorragia das leptomeninges e da medula, alguns apresentaram ainda aderência das leptomeninges. À histopatologia verificou-se encefalite difusa que afetava principalmente a substância cinzenta, com meningite e coroidite. Foi observada perivasculite mononuclear. Em dois equinos identificou-se o vírus da encefalomielite equina Leste pela reação de Semi-Nested transcrição reversa de polimerase em cadeia (Semi-Nested RT-PCR.

  12. Increases in COX II mRNA in the rat spinal cord induced by cauda equina traction.

    Science.gov (United States)

    Hirabayashi, Kiyoko; Komagata, Masashi; Yamada, Jinzo; Isshiki, Atsushi; Watanabe, Yasuo

    2006-05-01

    This article investigated the time response of COX II induction by traction of the cauda equina assessed by a quantified RT-PCR method. Under deep GOI anesthesia, male Wistar rats were fixed in the prone position and a laminectomy of the dorsal part of the first and second sacral vertebrae was performed. Following, COX II-mRNA levels in the cervical, thoracic, lumbar, sacral, and caudal segments were measured at 2, 4, 6, and 24 h after traction by a quantified RT-PCR method. After cauda equina traction, significant levels of COX II mRNA were detected in all segments of the spinal cord examined. Maximum levels in each segment were determined 4 h after traction of the cauda equina. Particularly in the sacrocaudal segments significantly higher levels of COX II mRNA were measured 24 h after traction. These results indicate that significant induction of spinal COX II mRNA was caused by cauda equina traction and that such induction plays a regulatory role in the nociceptive pain pathway.

  13. Traumatic transverse fracture of sacrum with cauda equina injury--a case report and review of literature.

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    Singh H

    1998-01-01

    Full Text Available Fractures of the sacrum are rare and generally associated with fracture of the pelvis. Transverse fractures of the sacrum are even less frequent and neurological deficit may accompany these fractures. A case of transverse fracture sacrum with cauda equina injury treated by sacral laminectomy and root decompression, is reported.

  14. Intra-Root Cavernous Angioma of the Cauda Equina : A Case Report and Review of the Literature

    Science.gov (United States)

    Chun, Sang Woo; Lee, Tae Hoon; Koo, Hye Soo

    2010-01-01

    Authors experienced intra-root cavernous angioma which is very rare case among cavernous angiomas of cauda equina. Our intra-root cavernous angioma was confirmed by findings from operating field and microscopic examination. We report this case with review of the literature. PMID:20461171

  15. Intra-Root Cavernous Angioma of the Cauda Equina : A Case Report and Review of the Literature

    OpenAIRE

    Chun, Sang Woo; Kim, Sang Jin; Lee, Tae Hoon; Koo, Hye Soo

    2010-01-01

    Authors experienced intra-root cavernous angioma which is very rare case among cavernous angiomas of cauda equina. Our intra-root cavernous angioma was confirmed by findings from operating field and microscopic examination. We report this case with review of the literature.

  16. Small cell carcinoma of the prostate presenting with Cushing Syndrome. A narrative review of an uncommon condition.

    Science.gov (United States)

    Rueda-Camino, José Antonio; Losada-Vila, Beatriz; De Ancos-Aracil, Cristina Lucía; Rodríguez-Lajusticia, Laura; Tardío, Juan Carlos; Zapatero-Gaviria, Antonio

    2016-01-01

    Small cell carcinoma (SCC) of the prostate is an uncommon condition; there are very few cases in which presenting symptoms are consistent with Cushing Syndrome (CS). We report a new case in which CS triggers the suspicion of an SCC of the prostate and a review of the published cases of SCC of the prostate presenting with CS. The origin of these neoplasms is still unclear. It may be suspected when laboratory features appear in patients diagnosed with prostatic adenocarcinoma which becomes resistant to specific therapy. SCC usually occurs after the 6th decade. Patients suffering SCC of the prostate presenting with CS usually present symptoms such as hypertension, hyperglycemia, alkalosis or hypokalemia; cushingoid phenotype is less frequent. Cortisol and ACTH levels are often high. Prostatic-specific antigen levels are usually normal. CT scan is the preferred imaging test to localize the lesion, but its performance may be improved by adding other tests, such as FDG-PET scan. All patients have metastatic disease at the time of diagnosis. Lymph nodes, liver and bone are the most frequent metastases sites. Surgery and Ketokonazole are the preferred treatments for CS. The prognosis is very poor: 2- and 5-year survival rates are 27.5 and 14.3%, respectively. Key messages When a patient presents with ectopic Cushing Syndrome but lungs are normal, an atypical localization should be suspected. We should suspect a prostatic origin if Cushing Syndrome is accompanied by obstructive inferior urinary tract symptoms or in the setting of a prostatic adenocarcinoma with rapid clinical and radiological progression with relatively low PSA levels. Although no imaging test is preferred to localize these tumors, FDG-PET-TC can be very useful. Hormone marker scintigraphy (e.g. somatostatin) could be used too. As Cushing Syndrome is a paraneoplastic phenomenon, treatment of the underlying disease may help control hypercortisolism manifestations. These tumors are usually metastatic by the

  17. A Case of Pulmonary Carcinoid Tumor with a Superimposed Aspergilloma Presenting As a Covert Ectopic Adrenocorticotropic Hormone Syndrome

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    Kyoung Jin Kim

    2017-06-01

    Full Text Available Ectopic adrenocorticotropic hormone (ACTH syndrome is a challenging diagnosis only responsible for approximately 10% of Cushing syndrome cases. It has been associated with a variety of benign and malignant tumors including a carcinoid tumor accompanied by aspergilloma in our case that was significantly difficult to be detected. We report a patient over 70 years old with uncontrolled hypertension and hypokalemia presenting with generalized edema. Laboratory results revealed ACTH-dependent Cushing syndrome, but imaging studies did not show any discrete lesions secreting ACTH. The petrosal to peripheral ACTH gradient resulted in no evidence of pituitary adenoma. As the only lesion suspicious for ectopic ACTH secretion was a right lower round cystic lesion that did not appear to be a carcinoid tumor on computed tomography scan of the chest, the patient underwent video-assisted thoracic surgical resection to provide a definitive diagnosis. The final diagnosis was a small ectopic ACTH-secreting carcinoid tumor with unusual superimposed aspergilloma in the periphery of the lung. Postoperatively, the abnormal endocrine levels were normalized, and all of the clinical symptoms and signs were ameliorated. This is an informative case of ectopic ACTH syndrome (EAS that was the cause of hypokalemia, hypertension, metabolic alkalosis, and hypercortisolism despite its poorly specific cushingoid morphology and uncommon imaging findings. Therefore, we recommend that clinicians investigate any possible lesion as a potential source of EAS.

  18. Atypical presentation of popliteal artery entrapment syndrome: involvement of the anterior tibial artery.

    Science.gov (United States)

    Bou, Steven; Day, Carly

    2014-11-01

    Popliteal artery entrapment syndrome (PAES) is a rare condition that should be suspected in a young patient with exertional lower extremity pain. We report the case of an 18-year-old female volleyball player with bilateral exertional lower extremity pain who had been previously diagnosed with tendinitis and periostitis. Diagnostic studies showed entrapment of the left popliteal artery and the left anterior tibial artery. To our knowledge, there has only been 1 previous report of anterior tibial artery involvement in PAES. Copyright © 2014 American Academy of Physical Medicine and Rehabilitation. Published by Elsevier Inc. All rights reserved.

  19. [Gluteal compartment syndrome after total hip replacement. A presentation of two cases].

    Science.gov (United States)

    Villalba, J; Solernou, X

    2013-01-01

    Many postoperative complications have been described after a total hip arthroplasty, with early and acute, as well as late, complications being reported. Two cases of compartment syndrome of the buttock are described following a hybrid total hip arthroplasty (cemented stem and press-fit and screwed acetabulum) performed on 2 patients of 60 and 68 years old, both diagnosed and treated 24-48 hours after the surgery. Both cases had a primary prosthesis with no previous significant pathological findings. This condition is still rare, and few cases have been described at the medical literature. Copyright © 2012 SECOT. Published by Elsevier Espana. All rights reserved.

  20. Papillon-Lefevre syndrome-like presentation in chronic arsenicosis: A rare mimicry

    OpenAIRE

    Somak K Das; Tanusree Nath; Anirban Ghosal; Jana, Chanchal K.

    2012-01-01

    Chronic arsenicosis is a major health and occupational problem in rural parts of West Bengal such as in parts of the Gangetic plain of India. Chronic arsenicosis occurs due to accidental ingestion of repeated amounts of small doses by those working with metal or by taking food or drink in which there are traces of arsenic. Chronic exposure may result accumulation in the hair, nail, and skin. Arsenic can also cross the placenta. Papillon-Lefθvre syndrome is a rare disease characterized by skin...

  1. Gender differences in the presentation and management of acute coronary syndromes: a national sample of 1365 admissions

    OpenAIRE

    Doyle, Frank; De La Harpe, Davida; McGee, Hannah; Shelley, Emer; Conroy, Ronán

    2005-01-01

    Background Gender differences in presentation and management of acute coronary syndromes (ACS) are well established internationally. This study investigated differences in a national Irish sample. Design Cross-sectional survey. Methods All centres (n= 39) admitting cardiac patients to intensive/coronary care provided information on 25 consecutive acute myocardial infarction patients and other ACS patients admitted concurrently (n= 1365 episodes). Patient data was analyzed in terms of those wi...

  2. Ictus emeticus presenting as an unusual seizure type in chromosome 22q11.2 deletion syndrome.

    Science.gov (United States)

    Hung, Pi-Lien; Huang, Li-Tung; Kwan, Shang-Yeong; Chang, Kai-Ping; Chen, Hsin-Hung; Lee, Yi-Yen; Fan, Hueng-Chuen; Chen, Chien

    2017-03-01

    We present a case study of a patient with chromosome 22q11.2 deletion syndrome presenting with ictus emeticus, together with a review of the relevant literature. The patient developed generalized tonic-clonic seizures at 3 months old, and seizures eventually remitted after calcium therapy. He then experienced vigorous vomiting that occurred during sleep, with glassy eyes and legs flexion. Video-EEG recordings exhibited a switch in background activity from organized reactivity during normal sleep to left lateralized temporal delta activity, which was bilaterally synchronized during an emetic attack. The ictal vomiting ceased following management with oxcarbazepine, high-dose phenobarbital, and a ketogenic diet. The unique seizure type and rare ictal EEG findings are the first reported in a child with chromosome 22q11.2 deletion syndrome. This case highlights that ictus emeticus without detectable epileptic discharge on EEG is one potential epileptic presentation in this genetic syndrome. [Published with video sequence on www.epilepticdisorders.com].

  3. Cauda equina repair in the rat: part 1. Stimulus-evoked EMG for identifying spinal nerves innervating intrinsic tail muscles.

    Science.gov (United States)

    Blaskiewicz, Don J; Smirnov, Igor; Cisu, Tudor; DeRuisseau, Lara R; Stelzner, Dennis J; Calancie, Blair

    2009-08-01

    Cauda equina injuries may produce severe leg and pelvic floor dysfunction, for which no effective treatments exist. We are developing a rat cauda equina injury model to allow nerve root identification and surgical repair. One possible difficulty in implementing any repair strategy after trauma in humans involves the correct identification of proximal and distal ends of nerve roots separated by the injury. Two series of studies were carried out. In Series 1, we electrically stimulated segmental contributors to the dorsal and ventral caudales nerves in order to characterize the recruitment patterns of muscles controlling rat tail movements. In Series 2, we attempted to identify individual nerve roots forming the cauda equina by both level of origin and function (i.e., dorsal or ventral), based solely upon the recruitment patterns in response to electrical stimulation. For Series 1 studies, electrical stimulation of the segmental contributors showed that all nerve roots-from the sixth lumbar to the first coccygeal-contributed to recruitment of muscles found at the base of the tail. Intrinsic tail muscles lying more distally in the tail showed a more root-specific pattern of innervation. For Series 2, the rate of successful identification of an unknown nerve root as being ventral was very high (>95%), and only somewhat lower (approximately 80%) for dorsal roots. Correctly identifying the level of origin of that root was more difficult, but for ventral roots this rate still exceeded 90%. Using the rat cauda equina model, we have shown that stimulus-evoked EMG can be used to identify ventral nerve roots innervating tail muscles with a high degree of accuracy. These findings support the feasibility of using this conceptual approach for identifying and repairing damaged human cauda equina nerve roots based on stimulus-evoked recruitment of muscles in the leg and pelvic floor.

  4. Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.

    Science.gov (United States)

    Sunga, Annette Y; Ricker, Charité; Espenschied, Carin R; Castillo, Danielle; Melas, Marilena; Herzog, Josef; Bannon, Sarah; Cruz-Correa, Marcia; Lynch, Patrick; Solomon, Ilana; Gruber, Stephen B; Weitzel, Jeffrey N

    2017-04-01

    Lynch syndrome (LS), the most common hereditary colorectal cancer syndrome, is caused by mismatch repair (MMR) gene mutations. However, data about MMR mutations in Hispanics are limited. This study aims to describe the spectrum of MMR mutations in Hispanics with LS and explore ancestral origins. This case series involved an IRB-approved retrospective chart review of self-identified Hispanic patients (n = 397) seen for genetic cancer risk assessment at four collaborating academic institutions in California, Texas, and Puerto Rico who were evaluated by MMR genotyping and/or tumor analysis. A literature review was conducted for all mutations identified. Of those who underwent clinical genetic testing (n = 176), 71 had MMR gene mutations. Nine mutations were observed more than once. One third (3/9) of recurrent mutations and two additional mutations (seen only once) were previously reported in Spain, confirming the influence of Spanish ancestry on MMR mutations in Hispanic populations. The recurrent mutations identified (n = 9) included both previously reported mutations as well as unique mutations not in the literature. This is the largest report of Hispanic MMR mutations in North America; however, a larger sample and haplotype analyses are needed to better understand recurrent MMR mutations in Hispanic populations. Copyright © 2017. Published by Elsevier Inc.

  5. Lupus erythematosus, thyroiditis, alopecia areata and vitiligo – A multiple autoimmune syndrome type 3 case presentation

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    Alin Laurentiu Tatu

    2017-04-01

    Full Text Available The combination of at least three autoimmune diseases in the same patient has defined as multiple autoimmune syndrome (MAS. Abnormalities of T cell-mediated immunity and humoral immunity have been described previously in the literature. Aims of work were to investigate the 22 years old patient with lupus erythematosus for three years and autoimune thyroiditis for one year, regardind other possible autoimmune conditions and to establish a treatment to control the diseases. The clinical exam revealed some circular hairless patches on the beard appeared about three months ago and white depigmented disseminated areas started one month ago and the laboratory investigations were performed. The modified laboratory findings were total IgE 530 UI/mL, Anti-SSA (anti-RO antibodies> 200 IU/mL, SSB negative, Antinuclear antibodies (ANA positive and fine speckled, Lupus anticoagulant testing positive, Anti-thyroid peroxidase antibodies 951 UI/ml, TSH 4,7 µUI/mL. The diagnosis of multiple autoimmune syndrome(MAS type 3 including Lupus erythematosus, autoimune Thyroiditis, Alopecia Areata and Vitiligo was established. Endocrine autoimmunities are associated with autoantibodies that react to specific antigens, whereas patients with collagen diseases synthesize immunoglobulins that recognize nonorgan-specific cellular targets, such as nucleoproteins and nucleic acids. Cellular autoimmunity is important in the pathogenesis MAS. The existence of one autoimmune disorder helps lead to the discovery of other autoimmune conditions.

  6. Therapeutic approaches in the improvement of cognitive performance in Down syndrome: past, present, and future.

    Science.gov (United States)

    de la Torre, Rafael; Dierssen, Mara

    2012-01-01

    Clinical trials with drugs aimed at treatment of Alzheimer disease to decelerate cognitive decline and translated mimetically to demented and young nondemented Down syndrome patients have been unable to demonstrate improvements in cognitive performance and functioning. Unfortunately, results from clinical trials do not support the use of NMDA antagonists like memantine and we should await at the development of safer GABA(A) antagonists to conclude about the efficacy of approaching Down syndrome therapeutics by modulating neurotransmission systems altered in this pathology. The use of folinic acid or antioxidants in DS patients is not supported by scientific evidence and do not provide improvement in cognitive performance to patients. Alternatively to the modulation of neurotransmission systems, future therapeutic approaches should focus at normalizing the expression levels or function of candidate molecules. Epigallocatechin gallate, a green tea polyphenol, that modulates DYRK1A functioning has already shown preliminarily that this approach may prove useful in therapeutics. Copyright © 2012 Elsevier B.V. All rights reserved.

  7. Stiff Person Syndrome: A Rare Neurological Disorder, Heterogeneous in Clinical Presentation and Not Easy to Treat

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    Susanne Buechner

    2015-01-01

    Full Text Available Background. Stiff person syndrome (SPS is a rare neurological disorder characterized by progressive rigidity of axial and limb muscles associated with painful spasms. SPS can be classified into classic SPS, paraneoplastic SPS, and SPS variants. Its underlying pathogenesis is probably autoimmune, as in most cases antibodies against glutamic acid decarboxylase (GAD are observed. Similarly, paraneoplastic SPS is usually linked to anti-amphiphysin antibodies. Treatment is based on drugs enhancing gamma-aminobutyric acid (GABA transmission and immunomodulatory agents. Case Series. Patient 1 is a 45-year-old male affected by the classic SPS, Patient 2 is a 73-year-old male affected by paraneoplastic SPS, and Patient 3 is a 68-year-old male affected by the stiff limb syndrome, a SPS variant where symptoms are confined to the limbs. Symptoms, diagnostic findings, and clinical course were extremely variable in the three patients, and treatment was often unsatisfactory and not well tolerated, thus reducing patient compliance. Clinical manifestations also included some unusual features such as recurrent vomiting and progressive dysarthria. Conclusions. SPS is a rare disorder that causes significant disability. Because of its extensive clinical variability, a multitask and personalized treatment is indicated. A clearer understanding of uncommon clinical features and better-tolerated therapeutic strategies are still needed.

  8. Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism

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    Armstrong Dawna L

    2002-12-01

    Full Text Available Abstract Background Hyperammonemia, hypoglycemia, hepatopathy, and ventricular tachycardia are common presenting features of carnitine-acylcarnitine translocase deficiency (Mendelian Inheritance in Man database: *212138, a mitochondrial fatty acid oxidation disorder with a lethal prognosis. These features have not been identified as the presenting features of mitochondrial cytopathy in the neonatal period. Case presentation We describe an atypical presentation of mitochondrial cytopathy in a 2 day-old neonate. She presented with a Reye-like syndrome episode, premature ventricular contractions and ventricular tachycardia. Initial laboratory evaluation exhibited a large amount of 3-methylglutaconic acid on urine organic acid analysis, mild orotic aciduria and a nonspecific abnormal acylcarnitine profile. The evaluation for carnitine-acylcarnitine translocase deficiency and other fatty acid oxidation disorders was negative. The patient later developed a hypertrophic cardiomyopathy and continued to be affected by recurrent Reye-like syndrome episodes triggered by infections. A muscle biopsy exhibited signs of a mitochondrial cytopathy. During the course of her disease, her Reye-like syndrome episodes have subsided; however, cardiomyopathy has persisted along with fatigue and exercise intolerance. Conclusions This case illustrates that, in the neonatal period, hyperammonemia and ventricular tachycardia may be the presenting features of a lethal carnitine-acylcarnitine translocase deficiency or of a mitochondrial cytopathy, associated with a milder clinical course. This association broadens the spectrum of presenting phenotypes observed in patients with disturbed mitochondrial energy metabolism. Also, the presence of 3-methylglutaconic aciduria suggests mitochondrial dysfunction and mild orotic aciduria could potentially be used as a marker of mitochondrial disease.

  9. Intracranial Hemorrhage in the Corpus Callosum Presenting as Callosal Disconnection Syndrome: FDG-PET and Tractography: A Case Report.

    Science.gov (United States)

    Kim, In Hwan; Lee, Soyoung; Lee, Chang-Young; Lee, Dong Gyu

    2014-12-01

    We report the findings of (18)F-fluorodeoxyglocese positron emission tomography (FDG-PET) and diffusion tensor tractography (DTT) in a right-handed patient presenting with callosal disconnection syndrome, including alien hand syndrome, after an anterior communicating artery aneurysmal rupture. The 49-year-old patient had right hemiparesis and unintended movement of the right hand during action of the left hand. A brain magnetic resonance imaging revealed lesions in the upper part of the genu and body in the corpus callosum as well as hemorrhage in the inter-hemispheric fissure. We observed extensive disruption of corpus callosum fibers in the upper genu and trunk by DTT for the evaluation of inter-hemispheric connection. FDG-PET revealed severe hypometabolism in the left cerebral hemisphere, including basal ganglia and thalamus, and hypermetabolism in the right cerebral hemisphere. Based on findings of FDG-PET and DTT, the callosal disconnection syndrome presented in the patient could be the result of loss of transcallosal inhibition in the contralateral hemisphere.

  10. Optic atrophy, necrotizing anterior scleritis and keratitis presenting in association with Streptococcal Toxic Shock Syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Papageorgiou Konstantinos I

    2008-02-01

    Full Text Available Abstract Introduction We report a case of optic atrophy, necrotizing anterior scleritis and keratitis presenting in a patient with Streptococcal Toxic Shock Syndrome. Case presentation A 43-year-old woman developed streptococcal toxic shock syndrome secondary to septic arthritis of her right ankle. Streptococcus pyogenes (b-haemolyticus Group A was isolated from blood cultures and joint aspirate. She was referred for ophthalmology review as her right eye became injected and the pupil had become unresponsive to light whilst she was in the Intensive Therapy Unit (ITU. The iris appeared atrophic and was mid-dilated with no direct or consensual response to light. Three zones of sub-epithelial opacification where noted in the cornea. There where extensive posterior synechiae. Indirect ophthalmoscopy showed a pale right disc. The vision was reduced to hand movements (HM. A diagnosis of optic atrophy was made secondary to post-streptococcal uveitis. She subsequently developed a necrotizing anterior scleritis. Conclusion This case illustrates a previously unreported association of optic atrophy, necrotizing anterior scleritis and keratitis in a patient with post-streptococcal uveitis. This patient had developed Streptococcal Toxic Shock Syndrome secondary to septic arthritis. We recommend increased awareness of the potential risks of these patients developing severe ocular involvement.

  11. [The present and the prospect of study on Blau syndrome/early-onset sarcoidosis].

    Science.gov (United States)

    Nakano, Michiyo; Kambe, Naotomo

    2013-04-01

    Blau syndrome (BS) and early-onset sarcoidosis (EOS) are both systemic granulomatous disease evoked by the mutated NOD2. It occurs in children younger than 4 years of age and is characterized by a distinct triad of skin, joint, and eye disorders without apparent pulmonary involvement. NOD2 encodes an intracellular receptor for muramyl dipeptide (MDP), the common component of bacterial cell wall peptidoglycan, and is expressed in cytoplasm of monocytic cells and epithelial cells. While its loss-of-function mutations are recognized in Crohn's disease, the mutations observed in BS/EOS are gain-of-function, and induced MDP-independent basal NF-kappaB activation. But we still do not know the precious molecular mechanism how the activation of NOD2 induces granuloma formation in the skin, joints and eyes.

  12. A Case of Systemic Lupus Erythematosus Presenting as Guillain-Barré Syndrome

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    Helen Chioma Okoh

    2015-01-01

    Full Text Available Systemic lupus erythematosus (SLE is an autoimmune systemic disease with multiple organ involvement with high morbidity and mortality rate. Among the severe potential fatal complications are those of the central and peripheral nervous system which usually develop during the course of the disease and very rarely from the outset of the disease. We are reporting a rare case of Miller-Fisher (MFS variant of Guillain-Barré syndrome (GBS as the first manifestation of SLE in a 41-year-old female who progressed to flaccid paralysis with no neurological improvement with initial immunosuppressive therapy, plasmapheresis, and first cycle of intravenous immunoglobulin (IVIG but with remarkable and complete recovery after the second 5-day course of IVIG.

  13. Some wounds are hard to heal: an interesting presentation of Ehlers-Danlos syndrome.

    Science.gov (United States)

    Ryan, N; Walkden, G; Akbar, S

    2012-05-01

    A 17-year-old female patient was admitted for an elective mini laparotomy and cystectomy of the right ovary for the treatment of chronic supra-pubic abdominal pain. The procedure went without complication and she was discharged the next day. She was re-admitted a month later as an acute case with wound dehiscence. HIV serology, thyroid function, immunoglobulin, protein electrophoresis and electrolyte levels were all normal. There were no obvious signs of infection and the bacterial swabs failed to culture an organism. Despite conservative measures with regular dressing, oral antibiotics and input from the tissue viability team the wound failed to epithelialise. The wound was debrided and re-sutured a total of three times and the patient received 24 days of intravenous antibiotics. After input from various teams a diagnosis of Ehlers-Danlos syndrome was made, allowing for appropriate management and wound healing.

  14. Lung herniation: an uncommon presentation of Poland's syndrome in a neonate at birth

    Science.gov (United States)

    Chandran, Suresh; Revanna, Krishna Gopagondanahalli; Ari, Dinesh; Rana, Aftab Ahmed

    2013-01-01

    A term male infant was admitted to the neonatal intensive care unit with an asymmetric chest wall and a herniating mass through the left fourth intercostal space. While crying, the left fourth intercostal space revealed a mass which herniated on expiration and receded on inspiration. On auscultation, the heart sounds were audible on the right side of the chest. Systemic examination was otherwise unremarkable. A roentgenogram of the chest revealed dextrocardia and hyperlucent left lung fields. Echocardiogram showed dextrocardia with a structurally normal heart. A clinical diagnosis of Poland's syndrome was made based on the hypoplasia of the left pectoral muscles, ribs and nipple, dextrocardia and lung herniation. He was thriving well when reviewed at 2 years of age. PMID:23921692

  15. Prune belly syndrome with overlapping presentation of partial urorectal septum malformation sequence in a female newborn with absent perineal openings.

    Science.gov (United States)

    Farooqui, Azhar; AlAqeel, Alaa; Habib, Zakaria

    2014-01-01

    Prune belly syndrome (PBS) is a rare congenital anomaly characterized in males by a triad of anomalous genitourinary tract, deficient development of abdominal wall muscles, and bilateral cryptorchidism. Although similar anomalies have been reported in females, by definition they do not full fill the classical triad. Urorectal septum malformation sequence (URSM) is a lethal condition characterized by presence of ambiguous genitalia, absent perineal openings (urogenital and anal), and lumbosacral abnormalities. In this original case report, the authors discuss the presentation and management of what would be analogous to a Woodhouse category 1 PBS in a female newborn associated with an overlapping presentation of URSM.

  16. Prune Belly Syndrome with Overlapping Presentation of Partial Urorectal Septum Malformation Sequence in a Female Newborn with Absent Perineal Openings

    Directory of Open Access Journals (Sweden)

    Azhar Farooqui

    2014-01-01

    Full Text Available Prune belly syndrome (PBS is a rare congenital anomaly characterized in males by a triad of anomalous genitourinary tract, deficient development of abdominal wall muscles, and bilateral cryptorchidism. Although similar anomalies have been reported in females, by definition they do not full fill the classical triad. Urorectal septum malformation sequence (URSM is a lethal condition characterized by presence of ambiguous genitalia, absent perineal openings (urogenital and anal, and lumbosacral abnormalities. In this original case report, the authors discuss the presentation and management of what would be analogous to a Woodhouse category 1 PBS in a female newborn associated with an overlapping presentation of URSM.

  17. EVALUACIÓN DE UN NUEVO PROTOCOLO PARA CONCENTRAR PLAQUETAS EQUINAS, EN EL LABORATORIO CLÍNICO

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    Diego Lenín Espinoza Mejía

    2013-06-01

    Full Text Available El objetivo de esta investigación consistió en evaluar un nuevo protocolo para obtener Concentrados Autólogos de Plaquetas Equinas (APCs por el método del tubo de doble centrifugación. Se utilizaron caballos criollos colombianos, clínicamente normales. Los APCs fueron obtenidos a partir de sangre venosa depositada en tubos con solución anticoagulante de citrato de trisodio, ácido cítrico y dextrosa que fueron centrifugados durante 10 minutos a 900 rpm (128 g para aspirar el 50 % de la fracción plasmática más cercana a la capa leucocitaria, esta porción fue centrifugada nuevamente por 10 minutos a 1200 rpm (227 g, obteniendo un 50 % en la parte inferior del contenido del tubo. Los recuentos celulares en la sangre entera y los APCs presentaron diferencias estadísticas significativas respecto a los valores de plaquetas (P < 0.01 y leucocitos (P < 0.05 Se encontró correlación positiva de Pearson (ρ = 0.9133 entre el recuento de leucocitos y de plaquetas presentes en los APCs. La eficiencia de colección de plaquetas fue de 67%, con un incremento de 238% y una concentración de 338%. Se calculó el costo económico del nuevo protocolo en 10.28 dólares. En conclusión, el nuevo protocolo de centrifugación doble en tubo evaluado es eficiente, simple y de bajo costo para la producción APCs y puede ser usado como terapia regenerativa de heridas y lesiones en equinos.

  18. The mitochondrial DNA 10197 G > A mutation causes MELAS/Leigh overlap syndrome presenting with acute auditory agnosia.

    Science.gov (United States)

    Leng, Yinglin; Liu, Yuhe; Fang, Xiaojing; Li, Yao; Yu, Lei; Yuan, Yun; Wang, Zhaoxia

    2015-04-01

    Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes/Leigh (MELAS/LS) overlap syndrome is a mitochondrial disorder subtype with clinical and magnetic resonance imaging (MRI) features that are characteristic of both MELAS and Leigh syndrome (LS). Here, we report an MELAS/LS case presenting with cortical deafness and seizures. Cranial MRI revealed multiple lesions involving bilateral temporal lobes, the basal ganglia and the brainstem, which conformed to neuroimaging features of both MELAS and LS. Whole mitochondrial DNA (mtDNA) sequencing and PCR-RFLP revealed a de novo heteroplasmic m.10197 G > A mutation in the NADH dehydrogenase subunit 3 gene (ND3), which was predicted to cause an alanine to threonine substitution at amino acid 47. Although the mtDNA m.10197 G > A mutation has been reported in association with LS, Leber hereditary optic neuropathy and dystonia, it has never been linked with MELAS/LS overlap syndrome. Our patient therefore expands the phenotypic spectrum of the mtDNA m.10197 G > A mutation.

  19. Unilateral central retinal artery occlusion as the sole presenting sign of Susac syndrome in a young man: case report

    Directory of Open Access Journals (Sweden)

    Samira Luiza dos Apóstolos-Pereira

    2013-06-01

    Full Text Available We report the case of a 24-year-old man presenting with sudden visual loss in the left eye from a central retinal artery occlusion. An extensive clinical investigation revealed no etiology. Three weeks later, however, the patient developed hearing loss followed by encephalopathy and multiple branch retinal artery occlusions in the right eye. Fluorescein angiography confirmed retinal vascular occlusions with no sign of vasculitis. The neurological examination revealed a diffuse encephalopathy while the MRI scan disclosed several small areas of infarcts in the brain. Bilateral sensorineural hearing loss was confirmed on audiometry. The patient was diagnosed with Susac syndrome and treated with methylprednisolone and cyclophosphamide, resulting in slight improvement and stabilization. This case shows that Susac syndrome may be diagnosed late due to the absence at onset of one or more of the symptoms of the classic triad (encephalopathy, multiple branch retinal artery occlusions and hearing loss. This case also serves to emphasize that Susac syndrome should be considered in the differential diagnosis of central retinal artery occlusion, even in apparently healthy young men.

  20. Colorectal adenomatous polyposis syndromes: Genetic determinism, clinical presentation and recommendations for care.

    Science.gov (United States)

    Buecher, Bruno

    2016-02-01

    Colorectal adenomatous polyposis constitutes a diverse group of disorders with different modes of inheritance. Molecular diagnosis of this condition has become more complex. In fact, somatic mosaicism for APC mutations now appears to be more frequent than previously thought and rare germline alterations of this gene may be implicated in patients tested negative for "classical" APC mutations (point mutations and large genomic rearrangements). Moreover, the knowledge concerning several aspects of the MUTYH-associated polyposis has improved since its first description in 2002 and germline mutations in new genes have recently been implicated in some cases of unexplained adenomatous polyposis. Genetic testing in probands and their relatives should be conducted in the context of pre- and post-test genetic counseling. The recent advent of New Generation Sequencing (NGS) techniques affords the opportunity to rapidly screen patients for a comprehensive panel of colorectal cancer susceptibility genes in a cost-effective fashion. This type of approach will probably replace the classical sequential approach based on clinical presumptive diagnoses in the near future. The risk of colorectal cancer is very high in affected patients in the absence of appropriate care. Clinical management is complex and should be provided in centers with special expertise in these diseases. This review focuses on the various colorectal adenomatous polyposis syndromes with special attention to more innovative and important aspects. Copyright © 2015 Société Française du Cancer. Published by Elsevier Masson SAS. All rights reserved.