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Sample records for syndrome a case

  1. Hepatopulmonary syndrome: a case report

    NARCIS (Netherlands)

    Huurnink, Arnold

    2015-01-01

    Huurnink A, Van den Berg CHSB, Booij J. Hepatopulmonary syndrome: a case report. Hepatopulmonary syndrome is characterised by a lowered oxygenation caused by intrapulmonary vascular dilatation in the setting of a liver disease. We present a case of a 42-year old woman with a Budd-Chiari syndrome,

  2. Apert Syndrome: A Case Report

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    Masoud Gharib

    2012-10-01

    Full Text Available Apert syndrome is a genetic defect which was first described by Eugene Apert in 1906. it's incidence is approximately one in 50000 births. This syndrome is many abnormalities in your body and Central Nervous System. rehabilitation can increase children and their parent's quality of life.We report a case of Apert syndrome and his occupational therapy program.

  3. Gorlin syndrome: A case report

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    Patil K

    2005-01-01

    Full Text Available Gorlin syndrome is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. It is characterized mainly by Basal cell carcinomas, Odontogenic keratocysts and skeletal anomalies. However, medical literature documents both common and lesser known manifestations of the disorder involving the skin, central nervous system, skeletal system etc. Diagnosis of the syndrome in childhood is basically through oral abnormalities. A case of Gorlin syndrome has been reported here, with review of literature.

  4. A Case of Pasqualini Syndrome

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    P.M. Liashuk

    2016-05-01

    Full Text Available The article presents a case of isolated congenital deficiency of luteinizing hormone (Pasqualini syndrome that manifested by secondary hypogonadism with abnormalities of copulative and fertile functions, which were normalized after the treatment using chorionic gonadotropin.

  5. [Bouveret's syndrome; a case report].

    Science.gov (United States)

    Báez-García, J J; Martínez-Hernández-Magro, P; Iriarte-Gállego, G

    2009-01-01

    To present a rare case of duodenal obstruction caused by an impacted gallstone(Bouveret s syndrome) and discusses the best therapeutic option for its resolution. Bouveret's syndrome is the less common presentation of a gallstone ileus. This syndrome is rare and predominates in elderly women; the main symptoms are nausea, vomiting, and epigastric pain, and sometimes hematoemesis, mimicking a pyloric stenosis. Diagnosis is made by endoscopy. Endoscopic lithotripsy must be the first-line treatment however surgery is indicated in case of failure or complication during the procedure. Morbidity and mortality rates are high. We present a 75 years old, female patient, with history of diabetes mellitus and hypertension. With 15 days of nausea, vomiting,loss of appetite and abdominal pain, with secondary dehydration and bad general conditions. She was subjected to an endoscopy and a duodenal obstruction by a large gallstone was founded,the endoscopic attempts to extract the gallstone were unsuccessful and surgery was performed with a dudenotomy and two layer closure with good outcome. The patient was discharged on the 8th postoperative day. Bouveret's syndrome is a rare variety of a gallstone ileus and must be considered like differential diagnosis in cases of gastric outlet obstruction.

  6. Dress Syndrome - A Case Report

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    Kremić Zorana

    2016-06-01

    Full Text Available The drug reaction with eosinophilia and systemic symptoms (DRESS syndrome is an adverse drug-induced reaction that occurs most commonly after exposure to drugs, most frequently anticonvulsants, sulfa derivates, antidepressants, nonsteroidal anti-inflammatory drugs, and antimicrobials. We present a 61-year-old male, with a generalized maculopapular exanthema on the trunk, face, extremities, palms, soles, palate, and fever (38°C. His medical history was notable for generalized epilepsy, treated with carbamazepine during 1 month. The diagnosis of DRESS syndrome was confirmed by specific RegiSCAR criteria. In our case, skin eruptions were successfully treated with oral methylprednisolone, cephalexin, and topical corticosteroid ointment.

  7. Glucagonoma syndrome: a case report

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    García Bernardo Carmen M

    2011-08-01

    Full Text Available Abstract Introduction Glucagonoma syndrome is a rare paraneoplastic phenomenon, with an estimated incidence of one in 20 million, characterized by necrolytic migratory erythema, hyperglucagonemia, diabetes mellitus, anemia, weight loss, glossitis, cheilitis, steatorrhea, diarrhea, venous thrombosis and neuropsychiatric disturbances in the setting of a glucagon-producing alpha-cell tumor of the pancreas. Necrolytic migratory erythema is the presenting manifestation in the majority of cases, so its early suspicion and correct diagnosis is a key factor in the management of the patient. Case presentation We present the case of a 70-year-old Caucasian woman with glucagonoma syndrome due to an alpha-cell tumor located in the tail of the pancreas, successfully treated with surgical resection. Conclusion Clinicians should be aware of the unusual initial manifestations of glucagonoma. Early diagnosis allows complete surgical resection of the neoplasm and provides the only chance of a cure.

  8. A case of Boerhaave syndrome

    International Nuclear Information System (INIS)

    Lee, Yong Zoon; Ra, Woo Youn; Woo, Won Hyung

    1974-01-01

    Esophageal rupture may occur from an external force such as an explosion or trauma to the chest, spontaneously as from vomiting, by instrumental perforations during endoscopy, or by foreign bodies. A case of Boerhaave syndrome was seen in a healthy 52 years old man who complained of substernal pain, vomiting and dyspnea after over-drinking. Abnormalities seen on the chest film were; A) hydropneumothorax B) mediastinal emphysema and C) subcutaneous emphysema. These characteristic roentgen findings were confirmed an esophageal rupture

  9. A Case of Wolfram Syndrome

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    Gholamali Naderian

    2010-01-01

    Full Text Available Purpose: To report a case of Wolfram syndrome characterized by early onset diabetes mellitus and progressive optic atrophy. Case Report: A 20-year-old male patient with diabetes mellitus type I presented with best corrected visual acuity of 1/10 in both eyes with correction of -0.25+1.50@55 and -0.25+1.50@131 in his right and left eyes, respectively. Bilateral optic atrophy was evident on fundus examination. The patient also had diabetes insipidus, neurosensory deafness, neurogenic bladder, polyuria and extra-residual voiding indicating atony of the urinary tract, combined with delayed sexual maturity. Conclusion: One should consider Wolfram syndrome in patients with juvenile onset diabetes mellitus and hearing loss. Ophthalmological examination may disclose optic atrophy; urologic examinations are vital in such patients.

  10. A case of Joubert syndrome

    International Nuclear Information System (INIS)

    Suzuki, Hisaharu; Nakazato, Akihiko; Ikota, Hiroko; Koide, Hiroyoshi; Yasaka, Atsushi; Nakada, Yoshitaka.

    1983-01-01

    Joubert et al. first reported a familial syndrome which showed episodic tachypena, abnormal eye movement, mental and motor retardation. Since then eighteen cases have been reported in the world. In this paper, we reported a male baby with Joubert syndrome who was observed since the newborn period. He showed episodic tachypnea (respiratory rate over 100/min), apnea, severe mental and motor retardation, no normal eye movements, occipital meningocele, high arched palate and poor sucking. CT scan revealed vermian agenesis, hypoplasia and deformity of brainstem, enlarged fourth ventricle and cisterna magna. EEG showed episodic discharges. Laboratory test investigations including amino acids, lactate, pyruvate, ammonia, chromosomal analysis, IVP and renogram showed no abnormal findings. He showed poor development and at eleventh month of age he died at home because of respiratory arrest. Similar syndromes were reported by Koya et al., Dekaban, Gardner et al., D'Agostino et al. and Friede. They reported syndromes consisting of abnormal respiration, abnormal eye movements, mental and motor retardation, occipital meningocele, retinal degeneration and polycystik kidney. Some causative events may have occurred at 6 to 7 weeks of gestation affecting central nervous system as well as other organs. (author)

  11. Lemierre syndrome: a case report

    International Nuclear Information System (INIS)

    Bae, Young A; Lee, In Jae; Kim, Hyun Beom; Hong, Myung Sun; Lee, Kwan Seop; Lee, Yul; Bae, Sang Hoon

    2006-01-01

    Lemierre syndrome is a rare disease characterized by internal jugular vein thrombosis and septic emboli, and it primarily occurs in healthy young individuals; this disease usually follows an acute oropharyngeal infection. To the best of our knowledge, only a few reports about this disease have appeared in the radiologic literature. We report here the radiologic findings of a case of Lemierre syndrome in a young healthy female adolescent who had a history of acute pharyngotonsilitis. Chest radiographs showed lung nodules that displayed cavitary changes with rapid progression on the serial studies. High-resolution CT scan showed multi-focal patchy consolidations that connect with vessels, and this was suggestive of septic pulmonary embolism. Ultrasonography and CT scan of the neck revealed right internal jugular vein thrombosis

  12. Proteus syndrome : a case report

    Energy Technology Data Exchange (ETDEWEB)

    Yoo, Seon Young [Korea Veterans Hospital, Seoul (Korea, Republic of)

    1998-08-01

    Proteus syndrome is a rare congenital hamartomatous condition with a variety of abnormalities affecting all three germ layers including overgrowth of various parts of the body, hemihypertrophy, unusual skeletal malformation, skin lesions, and various tumors. I describe the radiologic findings in a 12 year-old boy with Proteus syndrome. Computed tomography and magnetic resonance imaging are very useful for the specific diagnosis.

  13. Poland's Syndrome: A Case Report

    African Journals Online (AJOL)

    jen

    The Poland's anomaly was first described in 1841 by Sir Alfred Poland as a syndrome presenting with absence or underdevelopment of pectoralis ... He was the second child in a family of four. There was no familial history of similar .... hypoplasia: a middle degree of Poland syndrome. Acta Radiologica 1996; 37: 759-762. 8.

  14. [Scimitar syndrome: a case series].

    Science.gov (United States)

    Jaramillo González, Carlos; Karam Bechara, José; Sáenz Gómez, Jessica; Siegert Olivares, Augusto; Jamaica Balderas, Lourdes

    Scimitar syndrome is a rare and complex congenital anomaly of the lung with multiple variables and is named for its resemblance to the classical radiological crooked sword. Its defining feature is the anomalous pulmonary drainage. It is associated with various cardiothoracic malformations and a wide spectrum of clinical manifestations. Nine patients diagnosed with scimitar syndrome found in the database of Hospital Infantil de México between 2009 and 2013 were reviewed. Demographic records, clinical status and hemodynamic parameters reported were collected. This case series called attention to certain differences between our group of patients and those reported in the international literature. Patients were predominantly female and were diagnosed between 1 and 20 months of life. All were asymptomatic at the time of the study. Half of the patients had a history of respiratory disease and all patients had with pulmonary hypertension. Surgical management was required in on-third of the patient group. Copyright © 2014 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  15. Serotonin Syndrome: A Case Report

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    Pedro Oliveira

    2018-01-01

    Full Text Available Serotonin Syndrome (SS is a potentially fatal iatrogenic condition that occurs as a result of an over-stimulation of the serotonergic receptors. Its typical presentation consists of the triad altered mental status, autonomic hyperactivity and neuromuscular alterations, although the clinical condition is highly variable. Despite being potentially treatable, many cases per year are underdiagnosed, a fact that has been mainly attributed to the lack of knowledge of this condition by the physicians. SS treatment relies on four pillars: removal of the precipitating agent and supportive therapy, antagonism of 5-HT2A receptors, and control of agitation, autonomic instability and hyperthermia. It is expected that its incidence will accompany the growth of the prescription of antidepressants, andincreasing physician’s awareness about its occurrence, could contribute to a timely diagnosis and to the success of the treatment. We present a clinical case of a patient diagnosed with Bipolar Affective Disorder, hospitalized for a depressive episode with a psychotic component, which developed a SS compatible condition. Based on this case report the authors undertake a theoretical review of this condition.

  16. Bruck syndrome: a case report

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    Дмитрий Степанович Буклаев

    2015-09-01

    Full Text Available The article describes the clinical case of an infant with Bruck syndrome. The clinical and radiological analyses showed the presence of systemic osteoporosis with pathological fractures; contractures of the elbow, knee, and ankle joints; delay of physical and motor development; and signs of hypoplasia in some of the muscle groups. There was also a right-sided congenital muscular torticollis. X-ray analysis revealed a moderate antecurvation deformity of the lower legs and femurs, with cortical thinning. Laboratory data detected an abnormal beta-cross lap increase.Treatment of osteoporosis by inhibitors of osteoclastic resorption (pamidronate had a positive effect, and the elimination of flexion contractures at the elbow using plaster bandages with the distraction device also resulted in a positive effect.

  17. Heterotaxy syndrome: a case report

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    Daniel de Souza Carneiro

    2013-06-01

    Full Text Available The present report describes the findings at chest computed tomography angiography of a 28-year-old female patient with heterotaxy syndrome. This syndrome consists of a variety of anomalies of position and morphology of thoracoabdominal organs which do not follow the situs solitus or situs inversus arrangement. Imaging studies play a fundamental role in the individualization of the approach to the patient.

  18. Noonan Syndrome and Stroke: A Case Report

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    Ebru Nur Mıhçı

    2012-03-01

    Full Text Available Noonan syndrome is an autosomal dominant genetic disease characterized by short stature, webbed neck, typical facial appearance and congenital heart disease. Here we report a 24 year old woman patient with the diagnosis of Noonan syndrome who admitted to our clinic with ischemic stroke caused by atrial fibrillation secondary to hypertrophic cardiomyopathy. Noonan syndrome patients with stroke due to vascular malformations have been reported, but non-obstructive hypertrophic cardiomyopathy is a rare cause for stroke in patients with Noonan syndrome. Our aim of presenting the case emphasize that Noonan syndrome should be thought as a differential diagnosis in patients with stroke at a young age and dysmorphic facial appearance.

  19. Benedikt's Syndrome: A Rare Case Report

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    Aslı Aksoy Gundogdu

    2017-08-01

    Full Text Available Benedikt syndrome is a rare midbrain syndrome which is associated with the damage of the median mesencephalic tegmentum. The most common etiology of this syndrome is ischemic stroke. The occlusion of the posterior cerebral artery or the paramedian branches of the basilar artery results with the ischemia of this midbrain territory. Ipsilateral occulomotor cranial nerve palsy, contralateral hemiparesis, hemihypoesthesia, hemiataxia and korea or tremor are the clinical symptoms of this syndrome. In this article, we reported a case of Benedikt syndrome with an etiologic cause of cardioembolic stroke, who was diagnosed by the neurological examination and neuroradiological findings.

  20. Meckel Gruber Syndrome: A Case Report

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    Celal Devecioglu

    2004-01-01

    Full Text Available Meckel-Gruber syndrome is an autosomal recessive disordercharacterized by a combination of renal cysts and variably associatedfeatures including developmental anomalies of the central nervous system(typically encephalocele, hepatic ductal dysplasia and cysts, andpolydactyly. n this cases AFP levels are increases. Alternative names areMeckel Syndrome, Dysencephalia Splanchnocystica, Gruber Syndrome andMeckel – Gruber Syndrome. This study is presented to draw attention to theMeckel Gruber Syndrome which seen rarely, have high risk of reccurenceand antenathal determination of AFP levels and early diagnosis byultrasonographic screening can be confident.

  1. Waardenburg syndrome: A report of three cases

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    Ghosh Sudip

    2010-01-01

    Full Text Available Waardenburg syndrome (WS is a rare autosomally inherited and genetically heterogeneous disorder of neural crest cell development with distinct cutaneous manifestations. Based on the clinical presentations, four subtypes of the disease are recognized. A careful clinical evaluation is required to differentiate various types of WS and other associated auditory-pigmentary syndromes. We describe a case series of WS to highlight the wide spectrum of manifestations of the syndrome including a rare association.

  2. Gorlin-Goltz syndrome: A rare case

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    Satyaki Ganguly

    2015-01-01

    Full Text Available Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi.

  3. TREACHER COLLINS SYNDROME: A CASE REPORT

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    Jacob Antony Thoppil

    2016-10-01

    Full Text Available BACKGROUND Treacher Collins Syndrome is a congenital disorder of craniofacial development of the head and neck region. This is a case report of a patient who presented in our outpatient department with complaints of severe hearing loss, deformed face, external ears and malaligned teeth. With further evaluation, a diagnosis of Treacher Collins syndrome was made.

  4. Mediastinal syndrome: A report of three cases

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    Zardi, Enrico Maria; Pipita, Maria Elena; Afeltra, Antonella

    2016-01-01

    Mediastinal syndromes are a group of disorders involving the anatomical structures of the mediastinum. An increase in the incidence of this syndrome has been observed following the widespread use of diagnostic imaging. In the present study, three different cases of mediastinal syndrome, one of which was complicated by superior vena cava syndrome, are discussed. The treatment in the three cases was dependent on the etiology. While a patient with goiter experienced resolution of the symptoms following thyroidectomy, and a patient with lymphoma experienced beneficial effects following medical treatment, the patient with lymph node metastasis caused by a gastric tumor succumbed to the disease. In conclusion, the present case reports demonstrated that mediastinal syndrome is a life threatening condition whose prognosis depends on the underlying cause. PMID:27698718

  5. Adult polysplenia syndrome. A case report

    International Nuclear Information System (INIS)

    Usamentiaga, E.; Garcia-Valtuille, R.; Abascal, F.; Artiz, A.

    1997-01-01

    Polysplenia syndrome is a rare combination of congenital anomalies. It includes in a variable range: abdominal heterotaxy with multiples splenic nodules on the right side, cardiopulmonary anomalies and incomplete development of the inferior vena cava. We present the findings of a case of polysplenia syndrome performed by CT in an Adult asyntomatic patient. 11 refs

  6. Hermansky-Pudlak syndrome; a Case Report

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    Abbas Bagheri

    2010-01-01

    Full Text Available Purpose: To report a case of Hermansky-Pudlak syndrome. Case Report: A seven-year-old boy presented with marked generalized hypopigmentation, ocular exodeviation and nystagmus. He had history of easy bruising. Examination revealed green irides with marked transillumination, hypopigmented fundi and foveal hypoplasia. Further investigations disclosed platelet storage defect with adenosine diphosphate deficiency and abnormal aggregation compatible with Hermansky-Pudlak syndrome. The patient underwent strabismus surgery taking necessary precautions such as reserving platelet concentrates in case of a hemorrhagic event. Conclusion: Patients with albinism should be evaluated for Hermansky-Pudlak syndrome especially before surgery to prevent life-threatening complications.

  7. Joubert Syndrome - A Case Report

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    Bandichhode S. T.

    2013-07-01

    Full Text Available Joubert syndrome is a very rare malformation.It is estimated to affect between 1 in 80,000and 1 in 100,000 newborns.Joubert syndromeis an autosomal recessive disorder marked byagenesis of cerebellar vermis, ataxia, hypoto-nia, oculomotor apraxia, neonatal breathingproblems and mental retardation.

  8. Antiphospholipid syndrome: A case study

    International Nuclear Information System (INIS)

    Davies, T.

    1998-01-01

    Full text: A forty-two-year-old male presented to the Royal Adelaide Hospital with symptoms of increasing shortness of breath, swelling in both ankles, petechial rash and blood in his sputum. Initial investigations showed cardiomegaly, right ventricular hypertrophy, patchy lung infiltrates, a platelet count of 1500 and a clotting time of 60 seconds. A V/Q scan indicated a high probability of pulmonary embolism. Further investigations showed that the patient was positive for lupus anticoagulant and cardiolipin antibodies. A diagnosis of primary antiphospholipid syndrome was made. The patient''s high risk of strokes and hemorrhaging prompted investigation by a 99 mTc-HMPAO brain scan. Further V/Q scans were performed to follow up the initial finding of multiple pulmonary embolism and a R-L shunt study was performed to investigate a left subclavian murmur. The patient was admitted for four weeks and began treatment which included cyclaphosphamide, corticosteroids and plasmaphoresis and was discharged when stable. Over the next six months he was re admitted three times for relapse of antiphospholipid syndrome. On his fourth admission he collapsed and died five hours after admission. Cause of death was due to cardiac arrhythmia secondary to severe right ventricular hypertrophy and dilation. The effects of antiphospholipid syndrome was believed to be responsible for this outcome

  9. Antiphospholipid syndrome: A case study

    Energy Technology Data Exchange (ETDEWEB)

    Davies, T. [Royal Adelaide Hospital, Adelaide, SA (Australia). Department of Nuclear Medicine

    1998-03-01

    Full text: A forty-two-year-old male presented to the Royal Adelaide Hospital with symptoms of increasing shortness of breath, swelling in both ankles, petechial rash and blood in his sputum. Initial investigations showed cardiomegaly, right ventricular hypertrophy, patchy lung infiltrates, a platelet count of 1500 and a clotting time of 60 seconds. A V/Q scan indicated a high probability of pulmonary embolism. Further investigations showed that the patient was positive for lupus anticoagulant and cardiolipin antibodies. A diagnosis of primary antiphospholipid syndrome was made. The patient``s high risk of strokes and hemorrhaging prompted investigation by a {sup 99}mTc-HMPAO brain scan. Further V/Q scans were performed to follow up the initial finding of multiple pulmonary embolism and a R-L shunt study was performed to investigate a left subclavian murmur. The patient was admitted for four weeks and began treatment which included cyclaphosphamide, corticosteroids and plasmaphoresis and was discharged when stable. Over the next six months he was re admitted three times for relapse of antiphospholipid syndrome. On his fourth admission he collapsed and died five hours after admission. Cause of death was due to cardiac arrhythmia secondary to severe right ventricular hypertrophy and dilation. The effects of antiphospholipid syndrome was believed to be responsible for this outcome.

  10. [Antisynthetase syndrome - a case report].

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    Prus, Visnja; Bedeković, Drazen; Milas-Ahić, Jasminka; Visević, Roberta; Segec, Branko; Jukić, Zlatica; Perić, Ljiljana

    2013-01-01

    Twenty-eight year-old woman with predominant signs of polymyositis, pulmonary interstitium involvement and with positive anti-Jo1 antibodies was suspected for antisynthetase syndrome. Over the next three months sores and ulcerations have appeared at the fingertips. In the later course of the disease clinical picture of mixed connective tissue disease associated with interstitial lung disease, with a dominant picture of systemic sclerosis have emerged. She was treated with glucocorticoides and immunosuppressive therapy. Patient condition was mostly stable, without significant progression of lung lesions. Early diagnosis and treatment antisynthetase syndrome significantly contributes to more favorable course and outcome of disease. A prerequisite for that are well-defined diagnostic criteria and an appropriate choice of treatment.

  11. HAGLUND SYNDROME: A CASE REPORT

    OpenAIRE

    Indira; Prakash; Venkateshwaran; Shivashankar; Gowrish

    2015-01-01

    Haglund Syndrome is one of the causes of posterior heel pain. It is the inflammation of the tendoachilles at the calcaneal insertional site and the regional soft tissues. It comprises of insertional Achilles tendinopathy, retrocalcaneal & retroachilles bursitis and posterior calcaneal bony spur. Imaging plays a very important role in the diagnosis as it can be mimicked by several other conditions like isolated retrocalcaneal bursitis, enthesopathies and accessory soleu...

  12. Heerfordt Syndrome: A Case Report

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    Füsun Mayda Domaç

    2010-09-01

    Full Text Available Heerfordt syndrome is a form of neurosarcoidosis with the combination of fever, enlargement of the parotid gland, anterior uveitis, and facial nerve paralysis. We present a 38-year-old female patient who had a solid and painful swelling behind each ear 20 days after the complaints of redness of both eyes, fatigue, night sweat, and weight loss. Three weeks later, right facial paralysis developed, and the patient was seen in our outpatient clinic. On physical examination, bilateral solid and painful masses were observed on the parotid glands. Neurological examination was normal except for the right facial nerve paralysis. Ophthalmologic examination revealed bilateral anterior uveitis. Cranial magnetic resonance imaging was normal. On parotid gland magnetic resonance imaging, enlargement, lobulation and cystic lesions on both parotid glands with heterogeneous contrast involvement were observed. Parotid biopsy showed non-necrotizing granulomatous sialadenitis. There were multiple nodules on both lungs on mediastinum computerized tomography. Laboratory tests revealed: C-reactive protein 0.75 mg/dL, erythrocyte sedimentation rate 26 mm/hour and angiotensin-converting enzyme 83 U/L (N: 8-52 U/L Though the patient, diagnosed as Heerfordt syndrome, had phase 1 sarcoidosis, she was treated with 45 mg/day steroid because of the multiple organ involvement. In conclusion, Heerfordt syndrome, a rare manifestation of neurosarcoidosis, must be kept in mind in the differential diagnosis of facial nerve paralysis.

  13. Heerfordt Syndrome: A Case Report

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    Füsun Mayda Domaç

    2010-09-01

    Full Text Available Heerfordt syndrome is a form of neurosarcoidosis with the combination of fever, enlargement of the parotid gland, anterior uveitis, and facial nerve paralysis. We present a 38-year-old female patient who had a solid and painful swelling behind each ear 20 days after the complaints of redness of both eyes, fatigue, night sweat, and weight loss. Three weeks later, right facial paralysis developed, and the patient was seen in our outpatient clinic. On physical examination, bilateral solid and painful masses were observed on the parotid glands. Neurological examination was normal except for the right facial nerve paralysis. Ophthalmologic examination revealed bilateral anterior uveitis. Cranial magnetic resonance imaging was normal. On parotid gland magnetic resonance imaging, enlargement, lobulation and cystic lesions on both parotid glands with heterogeneous contrast involvement were observed. Parotid biopsy showed non-necrotizing granulomatous sialadenitis. There were multiple nodules on both lungs on mediastinum computerized tomography. Laboratory tests revealed: C-reactive protein 0.75 mg/dL, erythrocyte sedimentation rate 26 mm/hour and angiotensin-converting enzyme 83 U/L (N: 8-52 U/L Though the patient, diagnosed as Heerfordt syndrome, had phase 1 sarcoidosis, she was treated with 45 mg/day steroid because of the multiple organ involvement. In conclusion, Heerfordt syndrome, a rare manifestation of neurosarcoidosis, must be kept in mind in the differential diagnosis of facial nerve paralysis

  14. Moebius Syndrome: A Rare Case Report

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    M Srinivasa Raju

    2011-01-01

    Full Text Available Moebius syndrome is an extremely rare disorder. Only approximately few hundred cases have been reported in literature. In a nationwide survey reported in 2003, the prevalence of this syndrome was at least 0.002% of births for the years 1996 to 1998. The definition and diagnostic criteria for Moebius syndrome vary among authors. In most studies, it is defined as congenital facial weakness combined with abnormal ocular abduction. The list of signs and symptoms mentioned in various sources for Moebius syndrome includes more than 20 peculiar features. Here, we report an interesting case of Moebius syndrome in a 12-year-old male patient with all the important peculiar signs and symptoms.

  15. Cri du Chat syndrome: a case report.

    Science.gov (United States)

    Torres, Carolina Paes; Borsatto, Maria Cristina; de Queiroz, Alexandra Mussolino; Lessa, Fernanda Campos Rosetti; Orsi, Iara Agusta

    2005-01-01

    Cri du Chat Syndrome occurs as a result of a partial deletion in the short arm of chromosome 5. Among the consequent abnormalities are low birth weight, a striking catlike cry in infancy, mental retardation, epicanthal folds, hypertelorism and dental malocclusions. This paper presents a case report on the dental treatment of a 23-year-old patient who received multidisciplinary treatment, including special education and precocious stimulation for carriers of this syndrome.

  16. Mirizzi Syndrome Type 2: A Case Report

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    Aydemir Ölmez

    2009-01-01

    Full Text Available Mirizzi syndrome is an unusual complication of gallstone disease and occurs in approximately 1% of these pa-tients. Some cases can not be identified preoperatively; despite modern imaging techniques. Today; treatment of Mirizzi syndrome is surgical. If Mirizzi syndrome is pre-sent; the risk of bile duct injury increases; particularly during laparoscopic surgery. Therefore; preoperative or intraoperative diagnosis is important. Here; we pre-sented a 29 year-old woman with obstructive jaundice who diagnosed as cholelithiasis and choledocholithiasis. Preoperative endoscopic retrograde cholangiography re-lieved the common bile duct stone but cound not diag-nosed the Mirizzi syndrome preoperatively. During lapa-roscopy; the diagnosis of Mirizzi syndrome was sus-pected early and the procedure was converted to open cholecystectomy and T-tube to common bile duct. There was no bile duct injury and postoperative course was uneventful.

  17. Silver-Russell Syndrome: A Case Report

    Science.gov (United States)

    Kumar, Sunil; Jain, AP; Agrawal, Sachin; Chandran, Sindu

    2008-01-01

    A 15-year-old male boy with hemihypertrophy (left side) of the body was admitted in the hospital with the history of repeated attacks of convulsion. The patient was diagnosed as Silver-Russell syndrome on clinical ground. Silver-Russell syndrome (SRS) is a very rare genetic disorder that appears no later than early childhood. This is usually characterized by asymmetry in the size of the two halves or other parts of the body. Silver-Russell Syndrome occurs mostly in isolated cases because of sporadic genetic changes (mutations) for no apparent reason. For lack of facilities we were not able to do genetic study. PMID:18992170

  18. Tropical diabetic hand syndrome: a case report.

    Science.gov (United States)

    Yeika, Eugene Vernyuy; Tchoumi Tantchou, Jacques Cabral; Foryoung, Joyce Bei; Tolefac, Paul Nkemtendong; Efie, Derrick Tembi; Choukem, Siméon Pierre

    2017-02-13

    Tropical diabetic hand syndrome describes a complex hand sepsis affecting patients with diabetes across the tropics and often results from a trivial hand trauma. The clinical presentation of this syndrome is variable and ranges from localised swelling and cellulitis, with or without ulceration of the hand to progressive fulminant hand sepsis, and gangrene affecting the entire limb which may be fatal. Tropical diabetic hand syndrome could lead to permanent disability and death as a result of delay in presentation, late diagnosis and late medical and surgical intervention. This indexed case acts as an eye opener for physicians to the existence of this hand sepsis. We report the case of a 57 year-old black African female diabetic who was referred to our centre for the management of a suppurating ulcer and swelling of the left hand of two weeks duration. On examination and work-up, the patient was found to have Lawal Group III left diabetic hand syndrome and was managed with parenteral antibiotics, radical debridement and the hand was eventually amputated. She died 7 days following amputation from overwhelming sepsis. Though tropical diabetic hand syndrome is a relatively rare complication of diabetes, it can be fatal as in this case report. Early diagnosis and proper management would yield better outcome. Initial management should include aggressive intravenous broad-spectrum antibiotics with anaerobic coverage. Classification of tropical diabetic hand syndrome will assist physicians and surgeons in decision making, proper management and easy communication.

  19. Kleine–Levin Syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Taís Figueiredo de Araújo Lima

    2014-06-01

    Full Text Available The Kleine–Levin Syndrome is a differential diagnosis for patients with diurnal excessive sleepiness and a suspicion of narcolepsy. It is characterized by paroxysmal attacks of diurnal excessive sleepiness, associated with one or more symptoms of hyperphagia, hypersexuality, coprolalia and copropraxia. During crisis intervals, there are no symptoms. This pathology predominantly manifests itself in teenagers, being more frequent among males. The course of this disease is unpredictable, with variable duration and frequency. The most accepted physiopathology is that of a hypothalamic dysfunction, although and recently, there has appeared a hypothesis of a post-infectious autoimmune disorder. These patients show an elevated body mass index, which can predispose to association with comorbidities such as the sleep obstructive apnea syndrome. Treatment involves medications with different effects, but there is no specific and effective therapy. Our article shows a classic case of Kleine–Levin Syndrome associated with sleep obstructive apnea syndrome, a rare association in the literature.

  20. Rapunzel syndrome: a rare postpartum case.

    Science.gov (United States)

    Tegene, Teshome; Foda, Yahia; Hussain, Omar; Oloniyo, Kolawole; Ha, Ngoc-Tram; Manikonda, Geeta

    2013-01-01

    The Rapunzel syndrome describes a disorder in which a significant amount of hair is swallowed, forming a trichobezoar that extends past the stomach into the small intestines. Given the indigestible nature of hair, it subsequently leads to obstruction within the gastrointestinal system. Clinically, patients may present with symptoms of gastrointestinal obstruction, including abdominal complaints such as pain, nausea, vomiting, and diarrhea. However, due to its broad and nonspecific presenting symptoms, the diagnosis of Rapunzel syndrome warrants consideration once other common etiologies have been excluded. Surgical intervention is often required to remove the abdominal mass. This unusual syndrome is often associated with psychiatric disorders, affecting young women most commonly. In this report, we will discuss a unique case of Rapunzel syndrome in a one-month postpartum woman.

  1. Rapunzel Syndrome: A Rare Postpartum Case

    Directory of Open Access Journals (Sweden)

    Teshome Tegene

    2013-01-01

    Full Text Available The Rapunzel syndrome describes a disorder in which a significant amount of hair is swallowed, forming a trichobezoar that extends past the stomach into the small intestines. Given the indigestible nature of hair, it subsequently leads to obstruction within the gastrointestinal system. Clinically, patients may present with symptoms of gastrointestinal obstruction, including abdominal complaints such as pain, nausea, vomiting, and diarrhea. However, due to its broad and nonspecific presenting symptoms, the diagnosis of Rapunzel syndrome warrants consideration once other common etiologies have been excluded. Surgical intervention is often required to remove the abdominal mass. This unusual syndrome is often associated with psychiatric disorders, affecting young women most commonly. In this report, we will discuss a unique case of Rapunzel syndrome in a one-month postpartum woman.

  2. A Case with Cramp-Fasciculation Syndrome

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    Pinar Yalinay Dikmen

    2014-12-01

    Full Text Available Cramp-fasciculation syndrome is one of the peripheral nerve hyperexcitability disorders and presents muscle aching, cramps, stiffness and exercise intolerance. Fasciculation and cramps can be seen both in healthy individuals and in those with fatal diseases, such as Amyotrophic Lateral Sclerosis. We present a 27-year-old male patient, professional soccer player with fasciculations and cramps in  bilateral gastrocnemius-soleus complex. The patient complained about having to stop playing soccer because of muscle cramps and twitches in both calves, which had started 3 years earlier. After completing all laboratory and electrophysiological examinations, the patient was diagnosed as cramp-fasciculation syndrome. The aim of this paper was to present a rare case of cramp-fasiculation syndrome and discuss if the syndrome is benign or pioneer of a severe pathological process.

  3. Autoerythrocyte Sensitization Syndrome: A Case Report

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    Pinar Ozuguz

    2014-04-01

    Full Text Available Autoerythrocyte sensitization syndrome or Gardner-Diamond syndrome is a rare syndrome, characterized by recurrent, spontaneous, painful ecchymosis. The lesions occur particularly after emotional stress or mild trauma. Psychiatric problems are commonly observed in these patients. The lower limbs and the trunk are the most often localizations; however, lesions can appear on any other skin area. It is thought to be a sensitivity to intradermally injected autoerythrocyte. The diagnosis is usually based on typical anamnesis, clinical presentation, absence of specific laboratory changes and positive intradermal test. This syndrome should be considered in the differential diagnosis of purpura, especially in patients with psychiatric problems and without any coagulopathy. Herein, a case of 38 year-old-female who has recurrent ecchymoses on her legs, fatigue, headache and sleeping problems is presented.

  4. A case Report of Wolfram Syndrome

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    Zahra Razavi

    2007-01-01

    Full Text Available Wolfram syndrome is the association of diabetes mellitus, optic atrophy, diabetes insipidus and sensorineural deafness and is sometimes called DIDMOAD (Diabetes Insipidus, Diabets Mellitus, Optic Atrophy, and Deafness. It is a rare autosomal recessive disease with prevalence of one per 770,000. Natural history of Wolfram syndrome suggests that most patients will eventually develop most complications of this progressive neurodegenerative disorder. Juvenile–onset diabetes mellitus and optic atrophy are the best available diagnostic criteria for Wolfram syndrome. In this report clinical features of a patient with DIDMOAD syndrome is presented. A 12 year old male presented with short standing diabetes mellitus and diabetes insipidus. Further investigations showed bilateral optic atrophy, mild hearing loss and short stature. His parents were relative and he is first case in his family.

  5. Rett’s syndrome: a case report

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    Soumitra Ghosh

    2015-01-01

    Full Text Available Rett’s syndrome is a neurodevelopmental disorder that occurs almost exclusively in females and has a typically deteriorating course. We describe a case of Rett’s syndrome in a girl of three years. She had normal development till two years of age. She was presented to Psychiatry outpatient department (OPD, Assam Medical College and Hospital (AMCH with loss of her acquired hand skills and speech since last one year. She also developed purposeless stereotypic movements of hands and unable to hold objects in her hands. Gradually she has developed broad based gait and teeth grinding. This has been the first case of Rett’s syndrome reported in North East India and West Bengal.

  6. Chanarin Dorfman Syndrome: A Case Report

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    Yasemin Ozkale

    2015-09-01

    Full Text Available Chanarin Dorfman Syndrome is a multisystem inherited metabolic disorder associated with congenital ichthyosis and accumulation of lipid droplets in varios types of cells. Observation of lipid vacuoles in neutrophils (Jordan's anomaly in peirpheral blood smears in patients with ichthyosis is diagnostic for Chanarin Dorfman Syndrome. Since the initial case was reported by Dorfman in 1974, nearly 50 cases have been reported in the literature, and the majority were from Middle East countries. In this report we presented a 5 year old patient who admitted to our hospital for creatine kinase elevation and diagnosed as Chanarin Dorfman Syndrome with clinical and laboratory findings. [Cukurova Med J 2015; 40(3.000: 614-618

  7. Sjogren’s syndrome: a case report

    Science.gov (United States)

    Sunata, A.; Marpaung, B.

    2018-03-01

    The incidence of Sjogren’s Syndrome was estimated 4 in 100.000 of these cases with the prevalence is 0.2% to 2.7% of the population. Predominant sex female/male ratio is approximately 10:1 with peak incidence is in the fourth and fifth decade. A 29-year-old woman had dry eyes and recurrent sensation of sand in the eyes for two years. Schimmer’s test was positive ≤5mm in 5 minutes both, and the autoantibodies SSA and SSB were positive. Without history head or neck radiation and the result of laboratory examination hepatitis C and HIV negative. Until now there is no satisfying therapy for Sjogren Syndrome, only supportive specific to symptomatic can be treated. We reported a case of Sjogren Syndrome with dry eyes symptom, polyathralgia, and fatigue. Muscarinic agonist pilocarpine 5mg PO qid and hydroxychloroquine were given.

  8. Hermansky-Pudlak syndrome: A case report

    Directory of Open Access Journals (Sweden)

    R Vani

    2014-01-01

    Full Text Available Hermansky-Pudlak syndrome (HPS is a rare autosomal recessive disorder, which results in oculocutaneous albinism, bleeding disorders, and storage of abnormal fat protein compound (liposomal accumulation of ceroid lipofuscin. The major complications of this disorder are pulmonary fibrosis (PF and colitis. This is a case report of an HPS patient with PF.

  9. A rare case of Charlin's syndrome

    Directory of Open Access Journals (Sweden)

    Mohit P Singh

    2017-01-01

    Full Text Available Charlin's syndrome is an extremely rare condition characterized by pain in the nasal and paranasal areas, which is precipitated by touching the lateral aspect of the ipsilateral nostril. We are presenting one such case of a 42-year-old man who was admitted to Dr. Chaudhary Hospital and Medical Research Centre.

  10. Ambras syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    A Ishita

    2016-01-01

    Full Text Available Congenital generalized hypertrichosis associated with gingival hyperplasia are rare cases published in literature. The frequency incidence of generalized congenital hypertrichosis is about one to billions of people. Hypertrichosis and gingival hyperplasia are termed as Ambras syndrome (AS, which can be noticed at birth or soon after. Here, is a rare case report of 4-year-old male child who presented with generalized hypertrichosis with gingival fibromatosis and dysmorphic facial features.

  11. Kleine-Levin syndrome: a case report

    OpenAIRE

    Silveira Neto, Octávio da; Silveira, Octávio Augusto da

    1991-01-01

    A case of a 14 year-old boy suffering from Kleine-Levin syndrome is described. The diagnosis was made by symptoms which suggested this disorder: megaphagia, hi-persomnia and hipersexuality. A brief review is made emphasizing the pathophysiology, diagnosis and treatment of this syndrome which is frequently misdiagnosed. Um caso de síndrome de Kleine-Levin é descrito em menino de 14 anos. O diagnóstico foi baseado nos sintomas de hipersonolência, megafagia e hipersexualidade, havendo boa res...

  12. A strange case of Evans syndrome

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    Manuel Monti

    2013-12-01

    Full Text Available Evans syndrome is a rare autoimmune disease presenting hemolytic anemia, thrombocytopenia and/or neutropenia. It may be associated with other autoimmune or lymphoproliferative diseases. It can have an extremely serious disease course and, in rare cases, this can even be life-threatening. First-line treatment consists of steroids and/or immunoglobulin. Further therapy with rituximab, vincristine, cyclophosphamide and other immunosuppressive drugs can be considered in unresponsive patients. We report a case of Evans syndrome in a 54-year old woman admitted to the Emergency Department (ED for asthenia. Etiopathogenic, clinical, therapeutic and evolutive aspects are discussed. In contrast to many cases described in the literature, our patient had a satisfactory response to corticoids. We also discuss how to make a specific diagnosis, even in a suburban ED with limited resources, in order to admit patients to the appropriate hospital department and allow the correct therapy to be started as early as possible.

  13. Gorlin Goltz syndrome: A clinicopathological case report

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    Shobha C Bijjaragi

    2014-01-01

    Full Text Available The Gorlin-Goltz syndrome is an infrequent multisystemic disease, which is inherited in an autosomal dominant manner. This shows a high level of penetrance and variable expressiveness, characterized by multiple basal cell nevi or carcinomas, odontogenic keratocysts, palmar and / or plantar pits, calcification of the falx cerebri, and is occasionally associated with internal malignancies. It is fundamental to know the major and minor criteria for the diagnosis and early preventive treatment of this syndrome. Here we report a case of a 30-year-old male with major and minor features of the Gorlin-Goltz syndrome, such as, strabismus, barrel-shaped chest, with drooping shoulders and mild kyphosis, polydactyly, hypertelorism, multiple basal cell carcinomas, calcification of the falx cerebri, C5-C7 bifida spine, and fusion of T1 and T2.

  14. Kinsbourne syndrome: Report of a case

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    Paredes-Ebratt, Ángela María

    2017-01-01

    Full Text Available Kinsbourne syndrome, also known as “Opsoclonus-myoclonus syndrome” or “Dancing eyes syndrome” is a rare condition characterized by rapid, irregular, multi-directional eye movements (opsoclonus, myoclonic movements in the trunk, face and/or limbs and ataxia. It occurs in children aged between 6 and 36 months. Its etiology may be paraneoplasic (neuroblastoma, non-paraneoplasic (infectious processes or idiopathic. Regardless of its etiology, immunosuppressive drugs have been used in order to reduce the formation of antibodies possibly involved in the pathophysiology. We report the case of a 21 month-old girl with this syndrome secondary to an infectious respiratory illness. She had ataxia, opsoclonus, upper limbs myoclonus, irritability and altered sleep pattern. Neuroblastoma was ruled out. Initial management was done with methylprednisolone pulses, followed by oral prednisolone. She had progressive clinical improvement, and is currently asymptomatic with no sequelae. In these patients a paraneoplasic syndrome should always be ruled out.

  15. Hermansky-Pudlak Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Ilhami Berber

    2014-01-01

    Full Text Available Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention. A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be remarkable for albinism and suborbital ecchymosis. The absence of dense bodies in the platelets was demonstrated using electron microscopy. This patient was (slowly administered one unit of a platelet suspension, and his bleeding decreased considerably. Conclusion. This case shows that Hermansky-Pudlak syndrome should be considered in the differential diagnosis of a patient presenting with bleeding diathesis, when the clinical presentation also includes oculocutaneous albinism and visual problems.

  16. Prune Belly syndrome: A rare case report

    OpenAIRE

    Samal, Sunil Kumar; Rathod, Setu

    2015-01-01

    Prune Belly syndrome (PBS) is a rare congenital anomaly of uncertain etiology almost exclusive to males. We report a case of term male baby born to a 39-year-old grand multipara with previous four normal vaginal births. There was no history of genetic or congenital anomaly in her family. Examination of the baby revealed hypotonia, deficient abdominal muscle, cryptorchidism, palpable kidney, and bladder. Ultrasound examination of the abdomen revealed bilateral gross hydronephrosis and megauret...

  17. A Case Report of Maffucci Syndrome

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    Gh. Eshghi

    2013-01-01

    Full Text Available Introduction: Maffucci syndrome is a rare clinical entity (approximately 200 cases have been reported in the medical literature with a combination occurrence of multiple enchodroma and vascular tumors. Case Report: Our patient was an 18 year old girl born in a non-consanguineous marriage with finger and toe bones disorders (enchondroma causing deformity of fingers and toes with multiple vascular tumors (cavernous hemangioma in the distal upper and lower limbs. Entire laboratory investigations including thyroid function tests were normal. Cardiovascular ex-amination including EKG and echocardiography were also normal. The abnormal findings on brain CT SCAN with contrast were not observed. Angiographic and histologic stud-ies confirmed the cavernous hemangioma and radiography of fingers and toes approved bone lesions (enchondroma. Conclusion: A diagnosis of Maffucci syndrome was made by the above mentioned measures.(Sci J Hamadan Univ Med Sci 2013; 19 (4:82-85

  18. Locked - in syndrome: a case report

    OpenAIRE

    Luján-Ramos Vanesa; Monterrosa-Salazar Erika; Polo-Verbel Luis

    2011-01-01

    The Locked-In Syndrome is an infrequent disease in our community. It is a destructiveprocess usually due to obstruction of the basilar artery. There is interruption of thedescending corticobulbar and corticospinal tracts, leaving uninvolved the fibers thatcontrol the blinking and the vertical ocular movements (allowing patient to communicate)and the ascending reticular matter. Case report: a 63 years old woman, with ahistory of hypertension and stroke, who suddenly develop dysartria, hemipare...

  19. Ekiri syndrome: a report of 13 cases

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    Rahbarimanesh AA

    2009-02-01

    Full Text Available "nBackground: Ekiri syndrome or lethal toxic encephalopathy is a complication of shigellosis with dysentery, hyperpyrexia, seizures, headache and altered level of consiousness, which rapidly progresses to death. These children die at the beginning of the disease (8-48 hours from the beginning of symptoms, from brain edema. However they had no symptoms or signs of sepsis, dehydration, DIC or Hemolytic Uremic Syndrome (HUS. "nMethods: This survey is a case series study of children with Ekiri syndrome in Bahrami hospital from October 1998-2008 presented with loss of consciousness, colitis and high fever shortly after admission. Information about the patients was gathered from the documents according to physical signs and symptoms, lab data of those whom Ekiri syndrome had been diagnosed for them. Studied variables in this assessment were age, sex, fever, convulsions and loss of consciousness. Headache, encephalopathy, dehydration, elevated ICP, colitis, underline disease, stool, blood and CSF cultures. "nResults: The subjects contain 13 cases (10 male, 3 female, averaged 30/5 months of age. All had seizure, elevated ICP, encephalopathy and coma. All of the patients had fever between 39 and 40, averaged 39.5 degree of centigrade. Seven patients had headache and three ones was dehydrated. The first presentation symptom in three patients was gastroenteritis, in 9 was siezure and in 1 patient was headache. Stool culture in all patients was positive, but blood culture was positive in only one of them. CSF culture was negative in all of the patients. Mortality was 100%. "nConclusion: Symptoms, signs and presentation of Ekiri syndrome, a rare complication of infection with shigella, in the patients in Bahrami hospital was similar with the other studies beforehand in other countries. In this study, all the patients were died and supportive treatments were ineffective.

  20. [A new case of Rowell's syndrome].

    Science.gov (United States)

    Schissler, C; Banea, S; Tortel, M-C; Mahé, A

    2017-04-01

    This article introduces a new case of Rowell's syndrome, a controversial entity defined by the association of lupus erythematosus and erythema multiforme. A 43-year-old woman was diagnosed with lupus erythematosus induced by esomeprazole. Because her eruption did not improve after withdrawal of the drug, hydroxychloroquine was administered. Two weeks later, the patient described new annular lesions on her chest and arms, both erosive and crusted, and some had a target-like appearance. The oral mucosa was also affected. Histology revealed sub-epidermal blistering with keratinocytic necrosis, strongly suggesting erythema multiforme. Screening for other causes of erythema multiforme proved negative. A positive outcome was achieved with corticosteroids and hydroxychloroquine. One year later, the patient was in complete remission for both lupus erythematosus and erythema multiforme. The association of lupus erythematosus and erythema multiforme first described in 1963 is known as Rowell's syndrome. While diagnostic criteria have been established in the literature, the reality of this entity is still contested. The annular lesions of subacute lupus erythematosus may be confused with the lesions of erythema multiforme. As suggested in the above section, other authors consider Rowell's syndrome to be a singular entity. Indeed, our patient developed lesions distinct from those initially suggesting subacute lupus erythematosus, in particular: the target-like aspect of the elementary lesions, mucosal involvement, a distinct histological aspect, and dissociated outcomes. Ultimately, the definition of Rowell's syndrome remains highly debated. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  1. [Ocular ischemic syndrome--a case report].

    Science.gov (United States)

    Zemba, M; Avram, Corina Ioana; Ochinciuc, Uliana; Stamate, Alina Cristina; Camburu, Raluca Lăcrămioara

    2013-01-01

    Ocular ischemic syndrome, also known as hypoperfusion/ hypotensive retinopathy or as ischemic oculopathy is a rare ocular disease determined by chronic arterial hypoperfusion through central retinal artery, posterior and anterior ciliary arteries. It is bilateral in 20% of the cases. Most often it appears due to severe occlusion of the carotid arteries (ICA, MCA>ECA), described in 1963 by Kearns and Hollenhorst. Occasionally it can be determined by the obstruction of ophtalmic artery or some arterities (Takayasu, giant cell arteritis). The risk factors are: age between 50-80 years, males (M:F = 2:1), arterial hypertension, diabetes, coronary diseases (5% of the cases develop ocular ischemic syndrome), vascular stroke, hemodialysis. The case we present is of an 63 years old man known with primary arterial hypertension, hypercholesterolemia, diabetes type 2 non insulin dependent and diagnosticated with ischemic cerebral stroke and bilateral obstruction of internal carotid arteries in march 2010, who is presenting for visual impairment in both eyes. The imaging investigations show important carotid occlusion and at the ophthalmologic evaluation there are ocular hypertension and rubeosis iridis at the right eye, optic atrophy at both eyes (complete in the right eye and partial in the left eye), with superior altitudinal visual field defect in left eye. The following diagnosis was established: Chronic ocular ischemic syndrome in both eyes with Neovascular glaucoma at the right eye, Anterior ischemic optic neuropathy at the left eye and laser panphotocoagulation at the right eye was started.

  2. Moebius syndrome and narcolepsy: A case dissertation

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    Lídia Sabaneeff

    2014-03-01

    Full Text Available Moebius syndrome (MS is a congenital syndrome characterized by unilateral or bilateral aplasia of the VI and VII cranial nerves, with consequent convergent strabismus and bilateral peripheral facial paralysis. This syndrome might be associated with diurnal excessive sleepiness and muscular hypotony, mimetizing in this manner, narcolepsy. The diagnostic criteria for narcolepsy depend on the presence of REM sleep during the day. As with patients with MS we do not have ocular movements due to the VI nerve paralysis, the absence of horizontal ocular movements might make it difficult to confirm narcolepsy in these patients. The common clinical characteristics of these patients are due to a possible impairment of the same structures that are affected in the central nervous system. However, the mechanism by which it occurs remains to be fully understood. Further electrophysiological researches are necessary to better clarify the association of these two diseases. The objective of this dissertation is to describe and discuss a case of Moebius syndrome with diurnal excessive sleepiness as a differential diagnosis for narcolepsy.

  3. Woakes' syndrome. A case report

    OpenAIRE

    Carreras Alcaraz, Azor; Díaz de Cerio Canduela, Pedro

    2015-01-01

    [ES] Introducción: El síndrome de Woakes se define como una etmoiditis deformante con ensanchamiento de la pirámide nasal debido a una rinosinusitis crónico con poliposis nasal desde la infancia. Es un tipo de rinosinusitis crónica con pólipos nasales (RSCcPN) que se caracteriza por la aparición de unos pólipos fibrosos de gran tamaño que tienden a ocupar totalmente las fosas nasales y senos paranasales y a recidivar con frecuencia. Caso Clínico: Presentamos un hombre de 66 años que acude a c...

  4. Cockayne's syndrome: a case report. Literature review.

    Science.gov (United States)

    Arenas-Sordo, María de la Luz; Hernández-Zamora, Edgar; Montoya-Pérez, Luis Alberto; Aldape-Barrios, Beatriz Catalina

    2006-05-01

    Cockayne s syndrome is a genetic disorder with a recessive autosomal inheritance, described first by Cockayne in 1936. Patients with this syndrome present failure to thrive, short stature, premature aging, neurological alterations, photosensitivity, delayed eruption of the primary teeth, congenitally absent of some permanent teeth, partial macrodontia, atrophy of the alveolar process and caries. It could be caused by two gene mutations, CNK1 (ERCC8) and ERCC6, located on the 5 and 10 chromosomes respectively, causing two variations of Cockayne s syndrome, CS-A, secondary to a ERCC8 mutation and CS-B with ERCC6 mutation, the last one causes hypersensitivity to the ultraviolet light secondary to a DNA repair defect. The syndrome is also associated with mutations of the XPB, XPD and XPG genes. In this report we present a 9 year and 4 month old patient. He had a height of 94 cm, weight of 8.6 Kg, head circumference of 42 cm. and blood pressure of 120/80. Cachectic habitus, kyphosis, microcephaly, oval face, sunken eyes, a thin and beaklike nose, lack of subcutaneous facial fat (especially in the middle of the face), and large ears give the patient a birdlike appearance. It is notorious the photosensitivity in all the sun-exposed skin. The patient also displays delayed psychomotor skills and mental retardation. In the oral cavity we found deficient hygiene, gingivitis, cervical caries, enamel hipoplasia, abnormal position of the upper and inferior lateral incisors, macrodontia of the upper central teeth, the left one presented a caries. In the x-ray we observed congenital absence of 14, 23 and 24 teeth and mandibular hipoplasia. The aim of this review is to show the dentistry community the characteristics of the Cockayne s syndrome by means of a clinical case.

  5. Kinky hair syndrome - a case report -

    International Nuclear Information System (INIS)

    Yeon, Kyung Mo; Kim, In One; Chi, Je G.; Moon, Hyung Ro

    1986-01-01

    Kinky hair syndrome is a sex-linked recessively inherited copper metabolic disorder with severe neuro degenerative change and infant death. In 1962, Menges and associates described five boys of a related pedigree with severe psychomotor retardation, seizures and widespread cerebral and cerebellar degeneration. In 1969, Weissenberg and associates specified the radiological characterization of the syndrome. Symmetrical metaphyseal spurring and diaphyseal periosteal reaction of the long bones, anterior rib flaring, a malformed cerebral arterial system and subdural effusion. In 1972, Danks and associates found the disease to be associated with a defect of copper metabolism, confirmed by studies with labelled Cu. Authors experienced a case with characteristic clinical picture, and report cerebral and abdominal arteriographic changes and plain radiographic findings with brain CT, DSA and post-mortem angiography.

  6. Meckel Gruber syndrome, A case report

    Science.gov (United States)

    Aslan, Kiper; Külahçı Aslan, Elif; Orhan, Adnan; Atalay, Mehmet Aral

    2015-01-01

    ABSTRACT. Introduction: Meckel-Gruber Syndrome was first described by J R Meckel in 1822. It is an autosomal recessive disorder, and is caused by the failure of mesodermal induction. The typical triad of Meckel-Gruber Syndrome (MGS) involves meningo-encephalocele, polycystic kidneys and postaxial polydactyly. The worldwide incidence varies from 1 in 1.300 to 1 in 140.000 live births. Case: In this report, we present a case of MGS in which the diagnosis was made at 19 weeks of gestation based on ultrasonographic findings of the typical triad of the disease (encephalocele, polycystic kidneys, and polydactyly) These features were suggestive of the diagnosis of Meckel Gruber Syndrome (MGS). She had also placenta previa totalis. The patient was counselled regarding the lethal outcome of MGS. Unfortunately, the family did not approve the termination of pregnancy. At the 32nd week, she referred to hospital with complaints of vaginal bleeding and uterine contractions. An emergency cesarean section was perfomed due to plasental malposition. A 1380 gr, female fetus was delivered. First and 5th minute Apgar scores were 1 and 0, respectively. Consequently, the baby died after 45 minutes of neonatal resuscitation. Conclusıon: MGS is a lethal disorder. One cannot speak about survival of the fetus because of the pulmonary hypoplasia. The parents should be counseled about prognosis of the fetus and the outcome. Counselers should strictly give information about the recurrence risk for the next pregnancies. PMID:26037304

  7. Prune Belly syndrome: A rare case report.

    Science.gov (United States)

    Samal, Sunil Kumar; Rathod, Setu

    2015-01-01

    Prune Belly syndrome (PBS) is a rare congenital anomaly of uncertain etiology almost exclusive to males. We report a case of term male baby born to a 39-year-old grand multipara with previous four normal vaginal births. There was no history of genetic or congenital anomaly in her family. Examination of the baby revealed hypotonia, deficient abdominal muscle, cryptorchidism, palpable kidney, and bladder. Ultrasound examination of the abdomen revealed bilateral gross hydronephrosis and megaureter. Provisional diagnosis of PBS was made and the baby was admitted in neonatal intensive care units for further management. Routine antenatal care with ultrasonography will help in detecting renal anomalies, which can be followed postnatally. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

  8. Posterior reversible encephalopathy syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Kostić Dejan

    2015-01-01

    Full Text Available Posterior reversible encephalopathy syndrome (PRES is characterized by the following symptoms: seizures, impaired consciousness and/or vision, vomiting, nausea, and focal neurological signs. Diagnostic imaging includes examination by magnetic resonance (MR and computed tomography (CT, where brain edema is visualized bi-laterally and symmetrically, predominantly posteriorly, parietally, and occipitally. Case report. We presented a 73-year-old patient with the years-long medical history of hipertension and renal insufficiency, who developed PRES with the symptomatology of the rear cranium. CT and MR verified changes in the white matter involving all lobes on both sides of the brain. After a two-week treatment (antihypertensive, hypolipemic and rehydration therapy clinical improvement with no complications occurred, with complete resolution of changes in the white matter observed on CT and MR. Conclusion. PRES is a reversible syndrome in which the symptoms withdraw after several days to several weeks if early diagnosis is made and appropriate treatment started without delay.

  9. Charles Bonnet Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Hatice HARMANCI

    2013-09-01

    Full Text Available Charles Bonnet syndrome is a clinical entity in which visual hallucinations are encountered during the prognosis of illnesses presenting with vision loss. The syndrome occurs usually in the elderly and there is generally no history of mental disorder to mention. . Patients and #8217; ability to test the reality is generally conserved and they point out that what they see is not real. Affected people, for fear of being criticized as and #8220;insane and #8221;, do not easily express their experiences but they refer to a psychiatrist because of the increasing fear and anxiety. In this case report, a 73 years old male patient who has lost his vision due to diabetic retinapathy and whose quality of life was affected will be discussed in the acccompaniment of literature data. [J Contemp Med 2013; 3(3.000: 190-192

  10. Brugada syndrome: A brand new case

    Directory of Open Access Journals (Sweden)

    Jurčević Ružica

    2009-01-01

    Full Text Available Background: Brugada syndrome (BS is a disorder characterized by syncope or sudden death associated with one of several electrocardiographic (ECG patterns characterized by incomplete right bundle branch block and ST elevation in the anterior precordial leads. Patients with BS are prone to develop ventricular tachyarrhythmias that may lead to syncope, cardiac arrest, or sudden cardiac death. Case report. A 58-year-old woman is the first described case of Brugada syndrome in Serbia with intermittent typical changes in basic electrocardiography (ECG: ST segment elevation in the precordial chest leads like dome or coved - major form or type I. For the last 27 years the patient had suffered of palpitations and dizziness, without syncopal events. Her sister had died suddenly during the night in sleep. During 24-hour Holter monitoring the patient had ventricular premature beats during the night with R/T phenomenon and during the recovery phase of exercise testing had rare premature ventricular beats as the consequence of parasympatethic stimulation. Late potentials were positive. Echocardiography revealed left ventricular ejection fraction of 60%. We performed coronary angiography and epicardial coronary arteries were without significant stenosis and structural heart disease was excluded. In the bigining of the electrophysiological study ECG was normal, and after administration of Propaphenon i.v. Brugada syndrome unmasked with appearance of type I ECG pattern. A programed ventricular stimulation induced non sustained ventricular tachycardia. One-chamber implantable cardioverter defibrillator was implanted and the patient was treated with a combination od amiodarone and metoprolol per os. After one-year follow-up, there were no episodes of ventricular tachycardia and ventricular fibrillation. Conclusion. Brugada syndrome is a myocardial disorder which prognosis and therapy are related to presence of ventricular fibrillation or ventricular tachycardia

  11. H Syndrome: A case report and review of literature

    Directory of Open Access Journals (Sweden)

    Dilip Meena

    2018-01-01

    Full Text Available H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus. We report a case of this syndrome with typical clinical findings. We report this case citing the rarity of this uncommon entity.

  12. H Syndrome: A Case Report and Review of Literature

    Science.gov (United States)

    Meena, Dilip; Chauhan, Payal; Hazarika, Neirita; Kansal, Naveen Kumar

    2018-01-01

    H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus. We report a case of this syndrome with typical clinical findings. We report this case citing the rarity of this uncommon entity. PMID:29527032

  13. Hunter′s syndrome: A case report

    Directory of Open Access Journals (Sweden)

    N S Savitha

    2015-01-01

    Full Text Available Hunter′s syndrome or mucopolysaccharidosis (MPS type II is an X-linked recessive mucopolysaccharide disorder caused by a defect in the metabolism of glycosaminoglycans (GAGs characterized by involvement of nervous, cardiovascular, respiratory, and mucoskeletal systems along with numerous oral manifestations. This is a case report of a 13-year-old boy referred to the Department of Pediatric Dentistry with a chief complaint of irregularly placed teeth from a general physician. Here we highlight the pivotal role of pediatric dentists in diagnosis and treatment planning for patients diagnosed with such systemic conditions and the provision of advanced dental care in the management of the same.

  14. A Case of Prune Belly Syndrome

    Directory of Open Access Journals (Sweden)

    Wei Xu

    2015-06-01

    Full Text Available Prune belly syndrome (PBS is a rare congenital disorder characterized by deficient abdominal wall muscles, urinary tract malformation, and, in males, cryptorchidism. We present a case of PBS in China. The patient was a newborn baby boy who had wrinkled, “prune-like” abdominal skin, bilateral cryptorchidism, and urinary system malformation, complicated with hypoplasia of the lung and branch of the coronary artery–right ventricular fistula. His kidney function was inadequate. The patient subsequently died at age 28 days due to septicemia from a severe urinary tract infection.

  15. A case of prune belly syndrome.

    Science.gov (United States)

    Xu, Wei; Wu, Hui; Wang, Dong-Xuan; Mu, Zhi-Hong

    2015-06-01

    Prune belly syndrome (PBS) is a rare congenital disorder characterized by deficient abdominal wall muscles, urinary tract malformation, and, in males, cryptorchidism. We present a case of PBS in China. The patient was a newborn baby boy who had wrinkled, "prune-like" abdominal skin, bilateral cryptorchidism, and urinary system malformation, complicated with hypoplasia of the lung and branch of the coronary artery-right ventricular fistula. His kidney function was inadequate. The patient subsequently died at age 28 days due to septicemia from a severe urinary tract infection. Copyright © 2013. Published by Elsevier B.V.

  16. Lesch-Nyhan syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Kale A

    2008-05-01

    Full Text Available Lesch-Nyhan syndrome, a rare inborn error of metabolism, is characterized by mental retardation and self-destructive behavior resulting in self-mutilation through biting and scratching. It is a rare anomaly consisting of deficiency in the production of hypoxanthine phosphoribosyltransferase that leads to the overproduction of purine and accumulation of uric acid. No medical treatment exists to alleviate the symptoms of self-mutilation where direct dental intervention is the only way these behavior can be affected. A unique case of this type affecting a 6-year-old male child is reported.

  17. A case of treacher collins syndrome.

    Science.gov (United States)

    Ulusal, S; Gürkan, H; Vatansever, U; Kürkçü, K; Tozkir, H; Acunaş, Ba

    2013-12-01

    Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. Here we report TCS in an individual who has a heterozygous c.1021_1022delAG deletion in exon 7 of the TCOF1 gene (NG_011341.1). This is the second Turkish patient with a severe TCS phenotype resulting from a de novo c.1021_1022delAG mutation.

  18. A Case of Treacher Collins Syndrome

    OpenAIRE

    Ulusal, S; Gürkan, H; Vatansever, Ü; Kürkçü, K; Tozkir, H; Acunaş, BA

    2013-01-01

    Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. Here we report TCS in an individual who has a heterozygous c.1021_1022delAG deletion in exon 7 of the TCOF1 gene (NG_011341.1). This is the second Turkish patient with a severe TCS phenotype resulting from a de novo c.1021_1022delAG mutation.

  19. Oculodentodigital syndrome: report of a case.

    Science.gov (United States)

    Scheutzel, P

    1991-08-01

    The clinical and radiographic changes in a case of oculodentodigital syndrome are presented. The characteristic features of this rare developmental disorder, microphthalmus with microcornea and iris anomalies, hypertelorism, thin nose with hypoplastic alae and anteverted nostrils, syndactyly with camptodactyly and clinodactyly of the fourth and fifth fingers associated with bony anomalies of the middle phalanges of the fifth fingers and toes, were all present. In addition, histological examination of a lateral incisor showed the enamel dysplasia to be due to enamel hypoplasia; the dentine also showed marked hypocalcification. There were widespread pulp denticles and hypercementosis throughout the dentition. Both the patient and his mother had coronoid hypoplasia.

  20. A traumatic case of Weber's syndrome

    International Nuclear Information System (INIS)

    Shirakuni, Takayuki; Tamaki, Norihiko; Matsumoto, Satoshi; Ishida, Kazuhiko; Fujiwara, Masayasu.

    1983-01-01

    The present authors encountered a rare traumatic case of Weber's syndrome in which computerized tomography (CT) revealed a hematoma localized in the tegmentum of the midbrain. This 49-year-old male was admitted because of a disturbed consciousness level caused by a hit on the right frontal area in a traffic accident. A neurological examination on admission disclosed Weber's syndrome: a dilatation of the right pupil, no reaction to direct or indirect light stimuli, ptosis of the right eyelid, lateral deviation of the right eyeball, and left hemiparesis with increased deep tendon reflexes and Babinski's sign. CT revealed a high-density area localized in the tegmentum of the midbrain, but interpeduncular and quadrigeminal cisterns were patent. After admission, his motor function and level of consciousness have showed improvement with medical treatment, but his right oculomotor palsy is unchanged. CT performed 7 days after admission showed a low-density area in place of the absorbed hematoma. In this case, we cannot explain the mechanism of the primary brain-stem injury. However, there are four possible mechanisms: nerve avulsion, neurovascular friction, localized contusion, and shear strain injury. Careful consideration of the anatomical relationship shows that it is likely that the lesion was a contusional hemorrhage caused by impact on the tentorial edge. (author)

  1. Case Report: A Rare Case Report of Frontal Lobe Syndrome

    Directory of Open Access Journals (Sweden)

    Morteza Nouri- Khajavi

    2003-04-01

    Full Text Available The frontal lobe syndrome is a permanent personality change disorder with characteristic clinical pictures, which followed by frontal lobes damage. Clinical picture include: Affective instability, recurrent aggressive behavior, impaired social judgment, apathy and undifferentiating or suspiciousness and paranoid ideations. According DSM-IV classification frontal lobe syndrome named personality change due to head trauma on Axis I. Herein we report a case of 46 years-old man, who has developed behavioral disturbances following head trauma, about 10 years ago. Main clinical figures in this case are apathy, avolition and, undifferentiating. Clinical pictures are constant during these 10 years. The diagnostic approach has been based on patient’s problems history which, has taken from his family, mental status examination, Neurological examination, Brain imaging and Neuropsychological assessments which related to frontal lobes function. Because of rarity & neglection due to mysterious function of frontal lobes, and also considering that personality change from previous level is prominent figure of this syndrome and also brain imaging findings, which compatible with clinical findings, with this aim, we have reported this case.

  2. Osteomalacia in a Case of Adult-Onset Bartter Syndrome

    Directory of Open Access Journals (Sweden)

    Rashid Naseem Khan

    2018-01-01

    Full Text Available Bartter syndrome is a rare heterogeneous disease characterised by a deficiency in sodium and chloride absorption. Gain-of-function mutations in the CASR gene have been described in some patients with Bartter syndrome associated with hypocalcaemia and hypercalciuria. We describe a case of adult-onset Bartter syndrome with hypocalcaemia severe enough to cause osteomalacia.

  3. Alport syndrome in a Kazakh family: a case study

    Indian Academy of Sciences (India)

    Alport syndrome is a type-IV collagen inherited disorder caused by mutations in COL4A3 and COL4A4 (autosomal recessive) or COL4A5 (X-linked). In our study, we describe the case of Alport syndrome in a Kazakh family. The 20- year-old male, born in 1993, was diagnosed with chronic nephritic syndrome when he was ...

  4. A case of acquired Gitelman syndrome presenting as hypokalemic paralysis

    Directory of Open Access Journals (Sweden)

    M Kulkarni

    2015-01-01

    Full Text Available We report a case of a young female patient who presented with weakness of upper and lower limbs. On evaluation, she had hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria. Anti-Ro (SSA antibody was positive. She had an acquired Gitelman syndrome due to primary Sjögren′s syndrome (SS. SS presenting with features of Gitelman syndrome is very rare.

  5. Breast Cancer in Cowden Syndrome: A Case Report

    International Nuclear Information System (INIS)

    Jung, Mi Hee

    2009-01-01

    Cowden syndrome is rare condition with characteristic multiple hamartoma and mucocutaneous lesions. It is important for radiologists to be aware of Cowden syndrome because the patients with this disease have an increased risk for the occurrence of breast cancer. We report here on a case of invasive breast cancer in a 36-year-old female patient with Cowden syndrome

  6. Carotid artery aneurysm associated with Marfan Syndrome: A case ...

    African Journals Online (AJOL)

    Carotid artery aneurysm associated with Marfan Syndrome: A case report. Paolo Re, Simone Collura, Cristiano Saronni, Giacomo Pata, Andrea Battistella, Federico Ghidinelli, Gianluca Abrami, Maurizio Giovanetti ...

  7. Stevens-Johnson Syndrome: a Case Report

    Science.gov (United States)

    Castana, O.; Rempelos, G.; Anagiotos, G.; Apostolopoulou, C.; Dimitrouli, A.; Alexakis, D.

    2009-01-01

    Summary The Stevens-Johnson syndrome has the appearance of a partial-thickness burn that may lead to a 100% loss of epidermis, requiring the same resuscitation as a severe burn. A 38-yr-old male patient was admitted to the neurosurgery department of the Evangelismos General Hospital in Athens, where immediately after administration of an antiepileptic drug he developed sloughing of total epidermis, high fever, and the clinical picture of a severe burn patient. He was treated as a burn patient with massive cutaneous injuries and the concomitant systemic effects. Fluid resuscitation was important and the Parkland formula was used, as in a burn patient. Steroid medications were initially administered. Systemic antibiotics were discontinued after signs of sepsis and documented infection had been overcome. Improved treatment techniques and critical burn care have decreased mortality and morbidity in cases of the Stevens-Johnson syndrome. Prompt recognition of the disease and cure of the patient by the appropriate staff of the burns centre contribute to the successful treatment of such patients. PMID:21991171

  8. Exploding Head Syndrome:A Case Report

    Directory of Open Access Journals (Sweden)

    Gautam Ganguly

    2013-01-01

    Full Text Available Introduction: Exploding head syndrome (EHS is a rare parasomnia in which affected individuals awaken from sleep with the sensation of a loud bang. The etiology is unknown, but other conditions including primary and secondary headache disorders and nocturnal seizures need to be excluded. Case Presentation: A 57-year-old Indian male presented with four separate episodes of awakening from sleep at night after hearing a flashing sound on the right side of his head over the last 2 years. These events were described ‘as if there are explosions in my head’. A neurologic examination, imaging studies, and a polysomnogram ensued, and the results led to the diagnosis of EHS. Conclusion: EHS is a benign, uncommon, predominately nocturnal disorder that is self-limited. No treatment is generally required. Reassurance to the patient is often all that is needed.

  9. BRUGADA SYNDROME-A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Kuževska-Maneva Konstandina

    2016-03-01

    Full Text Available Brugada syndrome is a type of arrhythmia disorder, which is characterised by abnormal electrocardiogram (ECG findings and an increased risk of sudden cardiac death. The most frequent sign is a persistent ST elevation in the electrocardiographic leads V1-V3 with a right bundle branch block (RBBB.We present a case of 12 years old healthy child, without any complains until then. He had 2 episodes of collapse/syncope, which lasted long and spontaneously disappeared. The collapses were provoked by physical activity. On ECG we found sinus rhythm 62 bpm, RBBB (right bundle brunch block and Brugada signs in V2 and V3 channel-ST elevation ≥ 2mm. The child was sent in electrophysiological centre abroad where the electrophysiological study was performed. They did not found any accessory pathway. The atrioventricular (AV conduction was normal. Long lasting polymorphic ventricular tachycardia/fibrillation was induced with programed stimulation with 3 extrastimuli in right ventricular outflow tract. Performing one defibrillation the rhythm turned in sinus way. Then they performed ECG with translocation of electrodes V1-3 in 2nd intercostal space and the Brugada I type findings was discovered. After confirming of presence of Brugada type -1 syndrome the implantable cardioverter- defibrillator (ICD was applied on child heart.

  10. Recurrent Hypothenar Hammer Syndrome: A Case Report.

    Science.gov (United States)

    Adams, Nicholas S; Ford, Ronald D

    2016-10-01

    Hypothenar hammer syndrome (HHS) is a rare cause of digital ischemia and pain caused from repetitive trauma to the palm. Often related to occupational practices, thrombosis and embolization can occur. Treatment is often surgical and involves excision with or without reconstruction. We describe a 55 year-old, male pipe fitter previously diagnosed and treated for HHS with excision and repair using a reversed interpositional vein graft in the mid-1980's. He continued to work in the profession, which he regularly used his palm as a hammer and returned approximately 30 years later with recurrent symptoms of cold intolerance and pain. Angiography confirmed occlusion of the ulnar artery with emboli present distally. The patient was again treated with excision and reconstruction. HHS is an uncommon cause of digital ischemia. Its recurrence is even more rare. To our knowledge, this is the first described case of diagnosed and treated recurrent HHS.

  11. [Prune-Belly Syndrome: a case report].

    Science.gov (United States)

    Tattoli, Fabio; De Prisco, Ornella; Gherzi, Maurizio; Falconi, Daniela; Marazzi, Federico; Marengo, Marita; Serra, Ilaria; Tamagnone, Michela; Formica, Marco

    2014-01-01

    Prune-Belly Syndrome (PBS) is a rare congenital syndrome characterized by the absence of abdominal muscles, anomalies in the urinary tract, megaureter, cryptorchidism or testicular agenesis, hypertension and worsening chronic kidney disease (CKD). The incidence is estimated between 1 out of 35,000 and 1 out of 50,000 born alive, and it affects males in prevalence (97%). In the present study we describe the case of a 38 year old male patient (followed since May 2011) affected by PBS, CKD, one functional kidney at the scintigraphy, pediatric testicular implants, bladder surgery and correction of pectus excavatum. At the beginning of the observation, renal function was deteriorated, with a creatinine 3.3 mg/dl, GFR calculated at MDRD 23 ml/min, proteinuria in nephrotic range (4 g/day), high blood pressure, anemia and hyperparathyroidism. In the following examinations renal function framework worsened, despite the adoption of a low-protein diet. Due to the functional trend, the patient was prescribed hemodialysis as substitute treatment. In January 2013 a first attempt of artero-venous fistula (AVF) did not succeed, while a new AVF in March 2013 resulted effective. In July hemodialysis was started. In the future, we expect to insert the patient in the Kidney Transplant List (since surgical feasibility has already been positively evaluated). Our case is quite peculiar due to the late beginning of substitute treatment. Further, SPB represents a challenge that, in the absence of a prompt and effective treatment, inevitably it leads to terminal uremia; nevertheless, given a proper treatment, a transplant with good chances of success can be envisaged.

  12. A Rare Case: Touraine Solente Gole Syndrome

    Directory of Open Access Journals (Sweden)

    Kamil Şahin

    2017-03-01

    Full Text Available Touraine-Solente-Gole syndrome, also known as pachydermoperiostosis, is transmitted as an autosomal recessive trait. It is characterized by enlargement of fingers and toes, pachyderma, excessive sweating, and pain. In this paper, we present a 9-year-old patient to attract attention to this rare disease. A 9-year-old female patient was brought to our outpatient clinics with sweating and enlargement of hands and feet. She was the fourth child born to consanguineous parents. Her 26-year-old elder sister also had the same symptoms. Her physical examination revealed clubbing of the hands, and thick and sweating fingers. Her test results were unremarkable. Hand x-ray revealed epiphyseal, and metaphyseal thickening of the hands, and periostal hyperosteosis. Pachydermoperiostosis usually begins in childhood, progresses till 20 years of age, then, ceases. Delayed closure of fontanelles, and patent ductus arteriosus may be symptoms of the disease. Patients with deletions and mutations in HPGD (15-hydroxy prostaglandin dehydrogenase gene (4q33-q34 demonstrate this phenotype. This syndrome is more frequent in females, and mimics rheumatic diseases. Ibuprofen therapy may be used for bone pain. Colchicine is the alternative treatment. In cases of excessive hand and feet sweating associated with clubbed fingers pachydermoperiostosis should be brought to mind.

  13. Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report.

    Science.gov (United States)

    Goyal, Deepak; Yadav, Dinesh K; Shukla, Umesh; Sethi, Sidharth K

    2010-11-08

    We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. A thorough medical examination and evaluation revealed she had phenotypic features of Coffin-Siris syndrome, with Mayer-Rokitansky-Küster-Hauser syndrome on radiological evaluation. The karyotype of our patient was normal. In an unexplained case of mental retardation with facies suggestive of Coffin-Siris syndrome, association with Mayer-Rokitansky-Küster-Hauser syndrome should be considered and the patient should be evaluated for the same. Both of these syndromes may have a common pathogenesis, as yet unknown. This case report has broad implications, as similar cases in future may give insights into the pathogenesis of both these syndromes.

  14. MELKERSSON-ROSENTHAL SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Adil BAŞMAN

    2017-01-01

    Full Text Available Melkersson-Rosenthal Syndrome (MRS is a rare disorder consisting of a triad of persistent or recurrent orofacial edema, relapsing facial paralysis and fissured tongue. It is rarely possible to observe all aspects of the classical triad at the same time, since these symptoms may appear in different times of life cycle. The most common symptom is orofacial edema. Although etiology of MRS is unclear, various factors such as infections, genetic predisposition, immune deficiency, food intolerance and stress have been held responsible. MRS is diagnosed based on clinical features. This case report describes a 39 years old male patient with recurrent swelling of the upper lip. Clinical examinations showed classical triad of MRS. The diagnosis and treatment procedures were presented with special emphasis to the clinical features of this rare condition.

  15. [Post-polio syndrome - a case report].

    Science.gov (United States)

    Pastuszak, Żanna; Tomczykiewicz, Kazimierz; Stępień, Adam

    2015-07-01

    Post-polio syndrome occurs 30-40 years after polio virus infection. The main symptoms of PPS are slowly progressive muscle limbs paresis with muscle atrophy, joints pain, paresthesia. In 90% of patients the main symptom is fatigue that leads to physical and mental activity deterioration. The cause of disease remains unknown. Probably it is an effect of motoneurons damage during acute virus polio infection, their overloading and degeneration of remaining ones. In this study we described a case of man who developed PPS 36 years after Heine-Medin disease. The main symptom was intensification of right limb paresis and muscle atrophy. In electromyography there were damage features of muscle clinically affected and unaffected. Changes in lifestyle made possible to continue occupational activity. © 2015 MEDPRESS.

  16. A case report of Halzon syndrome

    Directory of Open Access Journals (Sweden)

    Montazeri A

    1997-07-01

    Full Text Available Report of two cases from Halzon syndrome (Tabriz-1996-97. One mother and her daughter ten minutes after eating from raw or half-ripe sheep gut (bowel, showed clinical demonstration of Halzon syndrome. Clinical aspects included: nasal, ear, frontal, and throat pruritis; oral and nasal discharge, caugh, headache, vertigo and mucoid sputum. One day after beginning of this signs and symptoms, some small white worms in 4-6 mm size, discharge from nose and mouth of patients. These worms in laboratory study, were diagnosed as nymph of linguatula serrata

  17. Ascher's syndrome: A rare case report

    Science.gov (United States)

    Chandravanshi, Shivcharan Lal; Mishra, Vinay

    2015-01-01

    An 18-year-old Indian girl with upper lip deformity presented with on and off painless swelling of her both upper eyelids for 3 years. Clinical evaluation revealed bilateral blepharochalasis, narrowing of horizontal palpebral fissure, decreased outer intercanthal distance, iris coloboma, cleft soft palate, bifid uvula, sensorineural deafness and double upper lip. Clinical examination of the thyroid, thyroid hormone assay and ultrasonography revealed normal thyroid gland structure and function. Ascher's syndrome was diagnosed. To our knowledge, this is the first reported case of Ascher's syndrome associated with iris coloboma, heterochromia iridum, and narrowing of horizontal palpebral fissure and decreased outer intercanthal distance secondary to lengthening of lateral canthal ligament. PMID:25971175

  18. Battered Child Syndrome; a Case Study

    Directory of Open Access Journals (Sweden)

    Arastoo Pezeshki

    2015-05-01

    Full Text Available One of the important and usual missed causes of pediatric traumas is child abuse. This ominous phenomenon, which can be presented physically, psychologically, sexually, and emotionally has grown significantly in recent years. Many children are not diagnosed in the early stages of evaluation. Battered Child Syndrome is used to describe the clinical condition of the child serious physical abuse by parents or caregivers. Medical staff should always keep the syndrome in their mind for those brought to the emergency department with trauma. In this report, we described a patient complained of dysphagia following a falling from a height and multiple epidural hematomas and final diagnosis of battered child syndrome.

  19. Alport syndrome in a Kazakh family: a case study

    Indian Academy of Sciences (India)

    2National Research Center for Maternal and Child Health, 32 Turan Prospect, Astana 010000, Kazakhstan ... In our study, we describe the case of Alport syndrome in a Kazakh family. The 20-year-old male, born in 1993, was diagnosed with chronic nephritic syndrome, when he was 16 years old. ... Journal of Genetics, Vol.

  20. Concurrent Van der Woude syndrome and Turner syndrome: A case report.

    Science.gov (United States)

    Los, Evan; Baines, Hayley; Guttmann-Bauman, Ines

    2017-01-01

    Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

  1. Non-Syndromic Oligodontia in permanent dentition: A case report ...

    African Journals Online (AJOL)

    of a syndrome. The present case report highlights a unique case of non syndromic oligodontia, with agenesis of four permanent incisors, left permanent canine and right second premolar in the mandibular arch and its management with a novel fixed functional prosthetic appliance. Prosthetic rehabilitation is an urgent need ...

  2. An unusual presentation of Boerhaave Syndrome: a case report

    Science.gov (United States)

    O’Kelly, Fardod; Lim, Kheng Tian; Cooke, Fiachra; Ravi, Narayanasamy

    2009-01-01

    We present a unique case of Boerhaave Syndrome that may highlight the spectrum of barotrauma from a Mallory-Weiss tear to full-thickness perforation. In this case, perforation only became evident following air insufflation at endoscopy. PMID:19830042

  3. 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...

  4. Indeterminate cauda equina syndrome: A case report.

    Science.gov (United States)

    Douraiswami, Balaji; Muthuswamy, Kumanan; Naidu, Dilip Kumar; Thanigai, Sriram; Anand, Vijay

    2016-01-01

    The presentation of cauda equina syndrome (CES) varies from its classical presentation, especially in its early stages of compression. We present a case of lumbar disc prolapse causing CES in an uncharacteristic way, knowledge of which is essential for orthopaedicians to diagnose this condition early and prevent neurological complications. A 32-year-old male patient presented to us with complaints of inability to lift his left ankle and numbness over his left leg and ankle for 14 days. Clinical examination showed involvement of left L3, L4, L5 and S1 nerve roots as evidenced by weakness of quadriceps, extensor hallucis longus, extensor digitorum longus muscles and tendo achilles. Knee jerk was absent. The opposite lower limb was normal and there was no evidence of bowel bladder involvement or saddle anaesthesia. The MRI showed L2 L3 posterocentral disc prolapse compressing the cauda equina. The patient underwent laminectomy and discectomy. Post-operatively, the patient showed significant improvement in his sensory symptoms with complete recovery of motor power in 12 weeks. In contrast to the classical presentation of CES, several case series have been reported with varied clinical manifestations like unilateral leg symptomatology, unilateral or bilateral saddle anaesthesia with or without leg symptoms and CES with complete absence of signs and symptoms in the lower limbs. The disc prolapse in our case at L2-L3 level has compressed the left-sided L3, L4, L5 roots with minimal compression of S1. The classical features of CES would have occurred due to the lateral shift of the cauda equina in our case but for our early diagnosis and intervention.

  5. Primary sialoangiectasia - a diagnostic pitfall in Sjogren's syndrome - Case report

    NARCIS (Netherlands)

    Kalk, WWI; Vissink, A; Spijkervet, FKL; Bootsma, H

    A case of primary sialoangiectasia, which in this case was initially misdiagnosed as Sjogren's syndrome, is described. Other diseases, including HIV infection, psoriatic arthritis, and acute parotitis, may cause glandular changes similar to the changes found in the syndrome. Therefore, sialography

  6. Prune Belly Syndrome in Adolescence: A Case Report

    Directory of Open Access Journals (Sweden)

    Prasad Mylarappa

    2015-01-01

    Full Text Available The Prune Belly syndrome also known as Eagle Barret syndrome is a rare disorder. We report a rare case of Prune Belly syndrome in 17 year old boy. Patient presented with complains of absence of both testis in scrotum since birth. On examination patient was found to have lax abdominal wall. Patient was further evaluated and found to have shrunken small right kidney and left hydroureteronephrosis and the diagnosis of Prune Belly Syndrome was made. Prune Belly Syndrome represents a wide spectrum of disease. Each patient must be dealt with on an individual basis. A course of watchful waiting with selective surgical intervention has also been successful.

  7. Postmalaria Neurologic Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Cheng-Fang Hsieh

    2006-12-01

    diverse and may present as an acute confusional state or psychosis, generalized seizure, fine tremors, cerebellar syndromes, postural hypotension, or malarial polyneuritis. Although the neurologic syndrome is primarily self-limited in most cases, corticosteroid may be beneficial in reversing PMNS.

  8. Kabuki Syndrome: a case report with severe ocular abnormalities

    Directory of Open Access Journals (Sweden)

    Flavio Mac Cord Medina

    2013-10-01

    Full Text Available Kabuki syndrome is a rare congenital anomaly, characterized by five fundamental features, the "Pentad of Niikawa": dysmorphic facies, skeletal anomalies, dermatoglyphic abnormalities, mild to moderate mental retardation and postnatal growth deficiency. Patients present characteristic external ocular features, nonetheless they may also present significant ocular abnormalities. We report a case of a brazilian child diagnosed with Kabuki syndrome, addressing the clinical features observed, with emphasis on the ocular manifestations. This case highlights the existence of this syndrome and all of its complexity. The identification of preventable causes of loss of vision underlines the value of detailed ophthalmologic examination of Kabuki syndrome patients.

  9. Down syndrome and neurofibromatosis: a case report.

    Science.gov (United States)

    Schaffer, Rebecca; Goss, Lindsay; Romer, Maureen Munnelly; Kalamchi, Sabah

    2014-01-01

    The dental management of a patient presenting with both Down syndrome and neurofibromatosis type 1 (NF1) has not previously been described well in the dental literature. A 20-year-old male with both of these genetic anomalies sought comprehensive treatment at the Special Needs Dental clinic at the Arizona School of Dentistry and Oral Health. He presented with multiple decayed surfaces, retained primary teeth, and intra/extra oral soft tissue tumors. Dental extractions and tumor reduction surgery took place at a private dental office due to the need for intravenous sedation for patient management. At the conclusion of the patient's -treatment, while his oral health was improved, there was little improvement in the facial aesthetics of his case. Coordinating care among health care providers in a patient with Trisomy 21 and NF1 is essential for a reliable and predictable outcome. However, as neurofibromas are often known to recur, the treatment risks and advantages should be reviewed prior to surgical intervention. © 2013 Special Care Dentistry Association and Wiley Periodicals, Inc.

  10. A Case Report of Ichthyosis Lamellar Syndrome

    Directory of Open Access Journals (Sweden)

    Gh. Eshghi

    2014-04-01

    Full Text Available Introduction: Ichthyosis lamellar syndrome is a rare genodermatosis and in most families is inherited as an autosomal recessive trait because of transglutaminase-1 deficiency. Case Report: Our patient was a 6 year old girl and she was the result of consanguinity. She had large plate-like scales. The scales had mosaic-like pattern and erythroderma was absent. Tautness of her facial skin was associated with ectropion and eclabion and hypoplasia of auricular cartilages. She had scarring alopecia because of taut skin (specially at the periphery of scalp. She also had palmoplantar keratoderma and secondary nail dystrophy and thanked nails. Her parents also gave us the history of heat intolerance and it is because of interaepi-dermal constriction of sweat ducts. Our patient had the history of recurrent ear infections and it is because of accumulation of scales in the external ear. Conclusion: Our patient underwent a biopsy and based on our clinical findings her diagnosis was lamellar ichthyosis. (Sci J Hamadan Univ Med Sci 2014; 21 (1:76-79

  11. Radiologic features of preteus syndrome: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Ok Hwa [Dept. of Radiology, Haeundae Paik Hospital, Inje University College of Medicine, Busan (Korea, Republic of)

    2014-04-15

    Proteus syndrome is a rare congenital hamartomatous condition that is characterized by a wide range of malformations with overgrowth of various tissues. The author reports the case of a Proteus syndrome in a 14-year-old girl who had the unique features of this syndrome including megaspondylodysplasia with resultant scoliosis, leg discrepancy, macrodactyly, clinodactyly, hyperostosis in external auditory meatus, asymmetric megalencephaly, splenomegaly, cystic lung changes, asymmetric soft tissue fat infiltrations and a long, asymmetric face, with descriptions of the radiological features.

  12. A case of Pseudo-Bartter syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Yang, Ik; Choi, Bo Whan; Lee, Yul; Chung, Soo Young [College of Medicine, Hallym University, Seoul (Korea, Republic of)

    1994-10-15

    Pseudo-Bartter Syndrome is a rare medical disease of the kidney characterized by normal blood pressure, hypokalemic metabolic alkalosis, hyperreninemia and hyperaldosteronism with drug history of diuretics. We report US, CT and MRI findings of a patients with clinically proved Pseudo-Bartter syndrome. The patient was a 37 year old woman with a history of long term ingestion of the diuretics(furosemide) for 20 years. Renal US revealed hyperechoic renal medulla at both kidneys. The resistive index(RI), calculated from the duplex doppler waveform is 0.61. Unenhanced CT revealed faint high attenuation along the medulla. T1-weighted MRI revealed indistinct corticomedullary differentiation.

  13. A Prenatal Case Report with Patau Syndrome

    Directory of Open Access Journals (Sweden)

    Mahmut Balkan

    2008-01-01

    Full Text Available In recent years, prenatal diagnosis and elective pregnancy termination have affected the reported birth prevalence of trisomies. Trisomy 13, or Patau syndrome, represents the third autosomic trisomy in order of frequency, after trisomy 21 (Down syndrome and trisomy 18 (Edwards syndrome, with a prevalence at birth estimated as between 1:12000 and 1:29000. In this study, we are presenting the results of cytogenetic analysis and clinic assessment in fetus of a woman at 22 weeks gestation, who were referred to our genetic diagnostic laboratory with abnormal triple test result, omphalosel and hydrocephaly. We performed the cordocentesis and pedigree analysis. We found a karyotype (47,XY,+13 in fetus. Because individuals of the family didn’t want, we were not followed the pregnancy prognosis for the mother and the fetus. We were recommending to the prenatal diagnosis for their further pregnancies.

  14. Proteus syndrome. A case report of a hamartomatous syndrome with severe mandibular hemihypertrophy.

    Science.gov (United States)

    Pinto, P X; Beale, V; Paterson, A W

    1998-01-01

    Proteus syndrome is a rare congenital hamartomatous malformation that is characterized by a wide range of deformities, including craniofacial deformities. Skin and skeletal developmental malformations are common and may assume tremendous proportions. The syndrome is often mistaken for other, more commonly recognized conditions, including neurofibromatosis. The soft-tissue masses in Proteus syndrome are not nerve tumors but are usually hamartomatous proliferations. The case report describes its varied manifestations, which include significant craniofacial dysmorphism, and discusses the differential diagnosis and management.

  15. A Rare Case of Acute Coronary Syndrome in a Patient With Turner Syndrome.

    Science.gov (United States)

    Kemaloglu, Tugba; Ozer, Nihat; Fikri Yapici, Mehmet

    2016-05-01

    In Turner syndrome, cardiovascular complications are the most important causes of early mortality. Congenital cardiovascular abnormalities are found in approximately one third of Turner syndrome patients. Developments in diagnosis and treatment have decreased the rate of mortality related to these abnormalities. In recent years, many papers have mentioned that coronary artery disease developing at early ages in patients with Turner syndrome causes sudden deaths. The patient, a 27-year-old female was admitted to the emergency room with chest pain at rest. She was diagnosed with Turner Syndrome in her teenage years due to amenorrhea. Patients with ECG changes and cardiac enzyme elevations were treated with acute coronary syndrome. The young woman with Turner Syndrome have several risk factors for early Coronary Artery Disease development. In such cases, dramatic results like sudden death or heart attack at an early age may occur in cases of insufficient follow-up and treatment.

  16. Late-Onset Nephrotic Syndrome in Galloway-Mowat Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Hazza Issa

    1999-01-01

    Full Text Available Galloway-Mowat Syndrome (GMS has a wide variety of clinical manifestations and histologic findings. All reported cases had developed nephrotic syndrome in the first two years of life. We report a case of 12 years old boy with microcephaly, mental retardation, and typical dysmorphic features of GMS with a late onset of minimal change nephritic syndrome which first manifested at seven years of age.

  17. Churg-Strauss syndrome: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Fernandes, Gabriel Lacerda; Reis, Alan Timoteo Rodrigues; Freitas, Ana Carolina Rezende de; Basilio, Dunya Bachour, E-mail: lacerdagabriel@hotmail.com [Hospital de Base do Distrito Federal (HBDF), Brasilia, DF (Brazil); Teixeira, Arivaldo Araujo [Diagnostico das Americas (DASA/Exame-Pasteur), Brasilia, DF (Brazil); Anton, Ana Graziela Santana [Hospital Brasilia, Brasilia, DF (Brazil)

    2014-07-15

    Churg-Strauss syndrome is a rare systemic disease primarily characterized by hypereosinophilia, asthma and vasculitis. The lung is the organ most frequently involved. In the present report, the authors describe a relatively rare finding in this disease - the presence of a pulmonary nodule -, while recalling the main radiological findings and the most relevant differential diagnoses. (author)

  18. Rett Syndrome: A Longitudinal Developmental Case Report.

    Science.gov (United States)

    Garber, Norman; Veydt, Nicole

    1990-01-01

    The clinical course of development of a 14-year-old girl with Rett Syndrome is outlined. Results indicated a general stagnation in gross and fine motor skills, self-help skills, communication, and cognition, beginning at approximately 15 months. No skills progressed beyond the 2-year level despite several years of intensive intervention.…

  19. Development of West syndrome in a patient with Reye syndrome: a case study.

    Science.gov (United States)

    Garcia de Alba, G O; Gamboa Marrufo, J D; Valencia Mayoral, P; Delgadillo, J F

    1989-04-01

    We report the case of a 3 month old female with a diagnosis of Reye Syndrome, confirmed with laboratory exams. Three months after apparently recovering from the acute clinical picture, the patient developed massive spasms and psychomotor delay with an EEG tracing typical of hypsarrythmia, the classic triade which suggests West Syndrome.

  20. Cogan's Syndrome in a Jordanian patient: A case report | Al ...

    African Journals Online (AJOL)

    We reported a Jordanian case of Cogan's Syndrome (CS). A 22-year old male patient presented with interstitial keratitis. The patient was treated successfully with topical steroids but over the following months, he developed vertigo, sensorineural hearing loss (SNHL) and generalized vasculitis. This is the first reported case ...

  1. A case report of burning mouth syndrome: A diagnostic dilemma

    Directory of Open Access Journals (Sweden)

    Ghassan M Al-Iryani

    2016-01-01

    Full Text Available Oral dysaesthesia syndrome called burning mouth syndrome (BMS causes chronic pain in the orofacial region without presence of any of the detectable organic causes. Common features of BMS are burning sensation in the mouth, xerostomia, dysgeusia, etc. These symptoms ideally show a diurnal pattern, were they are less in the morning and worsen as the day progresses and classically subside at the night time. BMS have multifactorial etiology. This report describes a case of burning mouth syndrome in a 60 year old female patient.

  2. Prune Belly Syndrome: A case Report | Ezeaka | Nigerian Quarterly ...

    African Journals Online (AJOL)

    The Prune Belly Syndrome (PBS) is a anomaly. It comprises of a lax abdominal wall musculature, urinary tract anomalies, and cryptorchidism. Our patients had urinary tract infection and renal failure. These are well described consequences of the syndrome and are poor prognostic indices. This case report was undertaken ...

  3. Happle-tinschert syndrome: Report of a case with hemimegalencephaly

    Energy Technology Data Exchange (ETDEWEB)

    Oezgur, Anil; Cabuk, Gonca; Arpaci, Rabia; Baz, Kiymet; Katar, Demet [Mersin University Faculty of Medicine, Mersin (Turkmenistan)

    2014-08-15

    Happle-Tinschert syndrome is a disorder causing unilateral segmentally arranged basaloid follicular hamartomas of the skin associated with ipsilateral osseous, dental and cerebral abnormalities including tumors. Although a case with hemimegalencephaly was previously described, this is the first report of Happle-Tinschert syndrome with discrepant short left leg, ipsilateral skin lesions, hemimegalencephaly and frontal polymicrogyria.

  4. Happle-tinschert syndrome: Report of a case with hemimegalencephaly

    International Nuclear Information System (INIS)

    Oezgur, Anil; Cabuk, Gonca; Arpaci, Rabia; Baz, Kiymet; Katar, Demet

    2014-01-01

    Happle-Tinschert syndrome is a disorder causing unilateral segmentally arranged basaloid follicular hamartomas of the skin associated with ipsilateral osseous, dental and cerebral abnormalities including tumors. Although a case with hemimegalencephaly was previously described, this is the first report of Happle-Tinschert syndrome with discrepant short left leg, ipsilateral skin lesions, hemimegalencephaly and frontal polymicrogyria.

  5. Klippel-Trenaunay-Weber Syndrome:A case report

    Energy Technology Data Exchange (ETDEWEB)

    Ryu, Kyung Nam; Lee, Sun Wha; Yoon, Yup; Lim, Jae Hoon [Kyung Hee University Hopital, Seoul (Korea, Republic of)

    1990-10-15

    The Klippel-Trenauna-Weber Syndrome is characterized by a classical triad that includes unilateral cutaneous capillary hemangiomas, varicose veins, and local gigantism with both soft tissue and osseous overgrowth. Authors have experience on case of Klippel-Trenaunay-Weber Syndrome with hemangiomas of ipsilateral scrotum and foot.

  6. Gilles de la Tourette's syndrome in a patient with 47(XXX syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Chiappedi Matteo

    2011-11-01

    Full Text Available Abstract Introduction To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. Case presentation An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. Conclusions The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

  7. A Case Report of Gorlin-goltz Syndrome

    Directory of Open Access Journals (Sweden)

    Shima Nafarzadeh

    2016-04-01

    Full Text Available Nevoid basal cell carcinoma syndrome (Gorlin syndrome is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. The syndrome is caused by mutations in patched (PTCH, a tumor suppressor gene that has been mapped to chromosome 9q22.3-q31. Gorlin-goltz syndrome (GGS is characterised by the presence of multiple odontogenic keratocysts in the jaws, basal cell carcinomas, palmar and plantar pits and intracranial calcifications. Here, we present a case of familial GGS, characterised by multiple odontogenic keratocysts, broad nasal ridge, hypertelorism, enlarged head circumference and dermoid cysts.

  8. Hemolytic Uremic Syndrome Associated with Pneumococcal Pneumonia. A Case Report

    OpenAIRE

    Ariel Efrén Uriarte Méndez; Andrés Prieto Apesteguía; Jesús Vila Díaz; Jorge Luis Capote Padrón; Kendrie Villavicencio Cardoso; Alnilam Fernández González

    2013-01-01

    Hemolytic uremic syndrome is a condition characterized by hemolytic microangiopathic anemia, thrombocytopenia and acute renal failure. In its classic form it is associated with diarrhea and it has a good prognosis. When there is an invasive pneumococcal disease as underlying condition, it has a mortality rate of 25%, and half of the surviving cases develop end-stage renal disease (ESRD). We present the case of a 17-month-old child with hemolytic uremic syndrome secondary to pneumonia with emp...

  9. A Case of Concurrent Proteus Syndrome and Hemophilia A

    Science.gov (United States)

    Hashemieh, Mozhgan; Mansoori, Bahar; Tavakoli, Reza; Sheibani, Koroush

    2012-01-01

    Background Proteus syndrome is a very rare condition with less than 100 confirmed cases reported worldwide. We report a case of Proteus syndrome in a two-year-old male who has hemophilia A comorbidity. Case Presentation A two-year-old male patient was admitted with the chief complaint of severe bleeding in mouth cavity after trauma for two weeks. At admission he was found to have petechiae on buccal mucosa and fecal discoloration due to GI bleeding. We noted multiple abnormalities in his musculoskeletal system and skin. He had lymph edema in left leg, hemihypertrophy, macrodactyly in both foots and macrocephaly. With the history of severe bleeding and recurrent blood product transfusion, we suspected a hemorrhagic disorder. The reduced level of Factor VIII activity confirmed the diagnosis of hemophilia A. Considering patient's various musculoskeletal abnormalities according to the diagnostic criteria and after ruling out similar disorders the diagnosis of Proteus syndrome was established. Conclusion Because of the variability of clinical features, Proteus syndrome can be confused with other disorders of multiple tissue overgrowth. Our case of Proteus syndrome, who had hemophilia A comorbidity outlines the challenges in diagnosis of such rare combination of diseases. PMID:23056896

  10. The Steven Johnson syndrome. A case study.

    Science.gov (United States)

    Baby, S; Doris, S

    1999-07-01

    Steven Johnson's Syndrome is a serious systemic disorder in which there are vesicobullous lesions involving the skin and mucous membranes. It can result as an immune response to an antigen or as a drug reaction. Most often it is considered as an allergic reaction. It is a self-limiting condition which responds to immediate management or may result in fluid loss, sepsis and death.

  11. Cauda equina syndrome: case report of a neurosurgical emergency ...

    African Journals Online (AJOL)

    Abstract. We present a young woman with symptoms and signs of cauda equina syndrome. Early surgical intervention led to improvement and restoration of sphincter function. The case serves to refresh our minds about this clinical entity.

  12. Megacystis-microcolon-intestinal hypoperistalsis syndrome associated with prune belly syndrome: a case report.

    Science.gov (United States)

    Akhtar, Tanveer; Alladi, Anand; Siddappa, O S

    2012-01-01

    Megacystis Microcolon Intestinal Hypoperistalsis Syndrome is a quite rare congenital anomaly that presents with a functional obstruction of the gastrointestinal tract which is usually fatal. It is three to four times more prevalent in females. We present a case of a rare association of a male neonate with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome who in addition had the classical triad of Prune Belly Syndrome and thus suggest a possibility of different spectrums with a common pathogenesis.

  13. Chediak-Higashi syndrome: a case report.

    Science.gov (United States)

    Jayaranee, S; Menaka, N

    2004-06-01

    A 5-month-old Chinese male infant was referred to the University Hospital, Kuala Lumpur for persistent fever, generalised rash and abdominal distension. Clinically he was suspected to have haemophagocytic lymphohistiocytosis. Haematological findings including the presence of several abnormal giant granules in neutrophils and single large azurophilic granules in many lymphocytes and monocytes in the peripheral blood established the diagnosis of Chediak-Higashi syndrome. The patient responded to allogeneic bone marrow transplant. This paper discusses the characteristic features, clinical course and management of this rare disorder. We suggest that peripheral blood film examination for the abnormal giant granules in granulocytes is an essential investigation in all young children with frequent recurrent infections or who are suspected to have virus-associated haemophagocytic syndrome or familial haemophagocytic lymphohistiocytosis.

  14. Rapunzel syndrome - A rare form of trichobezoar: A case report

    Directory of Open Access Journals (Sweden)

    L Thayumanavan

    2013-01-01

    Full Text Available Hair ball in the GI tract is called trichobezoar and the Rapunzel syndrome is a very rare form of trichobezoar found in patients with psychiatric illness in whom the ingested hair extends from the stomach into the small intestine. Trichotillomania (hair pulling and trichophagia (chewing of hair are intrinsic to the development of Rapunzel syndrome. A small number of patients have been reported in whom the gastric trichobezoar has a long tail and extends throughout the small bowel to the cecum. This condition, known as the Rapunzel syndrome, occurs almost exclusively in young girls. We report a case Rapunzel syndrome who presented with history of upper GI obstruction and weight loss. Upper GI endoscopy revealed a large trichobezoar occupying fundus of stomach extending along the whole stomach into duodenum beyond its 3rd part. It was treated successfully with surgery followed by psychiatric consultation. We will review the literature on the subject as well.

  15. A Case with Wolfram (DIDMOAD Syndrome

    Directory of Open Access Journals (Sweden)

    Bulent Altunoluk

    2012-09-01

    Full Text Available Wolfram syndrome, seen in 1/770000 of the population is an autosomal recessive dysmorphogenetical disease with unknown pathogenesis. It is characterized with the association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness, and also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness. Patients demonstrate diabetes mellitus followed by optic atrophy in the first decade,diabetes insipidus and sensorineural deafness in the second decade, dilated renal outflow tracts early in the third decade, and multiple neurological abnormalities early in the fourth decade.We present a boy 14 years old who had been followed-up with the diagnosis of Wolfram syndrome in this article. He had been followed-up with juvenile-onset diabetes mellitus for 9 years. Physical and laboratory exam revealed neurogenic bladder, deafness and optic defect. We emphasize the importance of family screening regarding the early diagnosis of Wolfram syndrome in the other individuals of the family since the disease shows an autosomal recessive inheritance.

  16. Prune belly syndrome in an Egyptian infant with Down syndrome: A case report

    OpenAIRE

    Metwalley Kotb A; Farghalley Hekma S; Abd-Elsayed Alaa A

    2008-01-01

    Abstract Introduction Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. Case presentation A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was fou...

  17. Gilles de la Tourette's syndrome in a patient with 47(XXX) syndrome: a case report.

    Science.gov (United States)

    Chiappedi, Matteo; de Vincenzi, Silvia; Dolci, Roberta; De Luca, Sara; Bejor, Maurizio

    2011-11-05

    To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX) syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX) syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX) syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning) poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

  18. A Case with Repeated Recurrent Acute Coronary Syndrome due to Pseudoephedrine Use: Kounis Syndrome

    Directory of Open Access Journals (Sweden)

    Metin Çeliker

    2014-01-01

    Full Text Available Allergic reaction-associated acute coronary syndrome picture is defined as Kounis syndrome. Although drug use is the most common cause of allergic reaction, foods and environmental factors may also play a role in the etiology. Herein, a case with acute coronary syndrome that developed two times at 8-month interval due to pseudoephedrine use for upper respiratory tract infection is presented.

  19. A case of Cornelia de Lange syndrome from Sudan

    Directory of Open Access Journals (Sweden)

    Elagib Atif

    2007-01-01

    Full Text Available Abstract Background Brachmann de Lange syndrome (BDLS is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency, psychomotor delay, behavioral problems, and malformations of the upper extremities. Case presentation Here we present for the first time a case of BDLS from Sudan, a 7-month-old female infant, who was referred as a case of malnutrition. The patient was from a Sudanese western tribe. Clinical investigation showed that the child was a classical case of BDLS, but with some additional clinical findings not previously reported including crowded ribs and tied tongue. Conclusion Reporting BDLS cases of different ethnic backgrounds could add nuances to the phenotypic description of the syndrome and be helpful in diagnosis.

  20. Vestibular dysfunction in Turner syndrome: a case report.

    Science.gov (United States)

    Baxter, Michael; Agrawal, Yuri

    2014-02-01

    Turner syndrome is a well-known cause of sensorineural hearing loss, and the lack of estrogen has been implicated in cochlear dysfunction. It has never been associated with vestibular dysfunction. We report a case of a patient with Turner syndrome who was found to have bilateral vestibular dysfunction based on video-oculography (VOG) testing. A single patient with a history of Turner syndrome who was found to have significant bilateral vestibular dysfunction. After noticing a deficit in the vestibulo-ocular reflexes on qualitative horizontal head impulse examination, the patient underwent VOG testing. VOG testing quantatively measures angular vestibulo-ocular reflex (AVOR) gain in the horizontal semicircular canal plane. AVOR gain represents the eye movement response to a head movement; in normal individuals the eye movement is fully compensatory and gain values are close to unity. VOG results showed AVOR gains of 0.29 and 0.36 on the right and left sides, respectively. We have presented a case of a woman with Turner syndrome with asymptomatic vestibular dysfunction demonstrated with VOG testing. Although there is a documented relationship between Turner syndrome and sensorineural hearing loss, there are no previous studies or case reports linking Turner syndrome and vestibular dysfunction. Additional research and added vigilance in monitoring Turner syndrome patients may be warranted.

  1. Terson’s syndrome: A report of two cases

    Directory of Open Access Journals (Sweden)

    Karadžić Jelena

    2015-01-01

    Full Text Available Introduction. Vitreous or retinal hemorrhage occurring in association with subarachnoid hemorrhage is known as Terson’s syndrome. In Terson’s syndrome, intracranial hemorrhages are followed by intraocular hemorrhage, classically in the subhyaloid space, but may also include subretinal, retinal, preretinal, and vitreal collections. Vitreous hemorrhage recovery is usually spontaneous in six to 12 months, otherwise vitrectomy is considered. Outline of Cases. We report of two cases of Terson’s syndrome. The first was in a hypertensive middleaged female, following anterior communicating artery aneurismal subarachnoid hemorrhage, after postneurosurgical interventions. The second case report was of a young male who suffered from the bilateral vitreous hemorrhage after a severe traumatic brain injury. Conclusion. Terson’s syndrome should be considered in patients who had previous cerebral hemorrhage and are referred to eye specialist because of loss of vision. However, this phenomenon has only rarely been described in association with subdural and epidural hematomas or traumatic subarachnoid hemorrhage.

  2. Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Shukla Umesh

    2010-11-01

    Full Text Available Abstract Introduction We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. Case presentation A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. A thorough medical examination and evaluation revealed she had phenotypic features of Coffin-Siris syndrome, with Mayer-Rokitansky-Küster-Hauser syndrome on radiological evaluation. The karyotype of our patient was normal. Conclusion In an unexplained case of mental retardation with facies suggestive of Coffin-Siris syndrome, association with Mayer-Rokitansky-Küster-Hauser syndrome should be considered and the patient should be evaluated for the same. Both of these syndromes may have a common pathogenesis, as yet unknown. This case report has broad implications, as similar cases in future may give insights into the pathogenesis of both these syndromes.

  3. Reversible cerebral vasconstriction syndrome: A case report

    International Nuclear Information System (INIS)

    Lee, Jeong Sub; Park, Ji Kang; Kim, Seung Hyoung; Jeong, Sun Young

    2013-01-01

    We report a 46-year-old woman patient with reversible cerebral vasoconstriction syndrome (RCVS). She presented with severe headache, multiple cerebral infarction, and multifocal severe stenosis in the intracranial arteries on magnetic resonance angiography (MRA). One month after the episode, a small bowel gastrointestinal stromal tumor (GIST) was incidentally detected during the evaluation of severe anemia and GIST was removed. Follow-up MRA was performed 3 months and 1 year after an initial attack of headache, and multifocal severe intracranial arterial stenotic lesions were completely resolved, she did not experience any episode of RCVS during the 2 years.

  4. Reversible cerebral vasconstriction syndrome: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jeong Sub; Park, Ji Kang; Kim, Seung Hyoung; Jeong, Sun Young [Jeju National University Hospital, Jeju National University School of Medicine, Jeju (Korea, Republic of)

    2013-11-15

    We report a 46-year-old woman patient with reversible cerebral vasoconstriction syndrome (RCVS). She presented with severe headache, multiple cerebral infarction, and multifocal severe stenosis in the intracranial arteries on magnetic resonance angiography (MRA). One month after the episode, a small bowel gastrointestinal stromal tumor (GIST) was incidentally detected during the evaluation of severe anemia and GIST was removed. Follow-up MRA was performed 3 months and 1 year after an initial attack of headache, and multifocal severe intracranial arterial stenotic lesions were completely resolved, she did not experience any episode of RCVS during the 2 years.

  5. 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.

  6. Brain-hepato-renal syndrome (Zellweger syndrome). Report of two cases and a review of the syndrome

    International Nuclear Information System (INIS)

    Ruiz, T.; Caparros, C.; Blanco, A.; Lopez, A.M.

    1997-01-01

    Cerebro-hepato-renal syndrome is a rare disorder that is transmitted by autosomal recessive inheritance. Children with this syndrome present mongoloid facies and severe muscle hypotonic at birth. Scimitar-like knee calcifications are considered a pathognomonic feature of this disorder. We present two patients with Zellweger syndrome, according to the diagnosis suggested by our Radiodiagnostic Service. Our objective is to stress the importance of the radiological findings, which in many cases are decisive in establishing the definitive diagnosis. (Author) 10 refs

  7. Wolfram (DIDMOAD syndrome: A Case report

    Directory of Open Access Journals (Sweden)

    Abdullah Kürsat Cingü

    2009-01-01

    Full Text Available A 10 years old boy admitted to Ophthalmology Clinic with the complaint of low vision. His ophthalmologic examination showed decreased visual acuity as counting fingers from 2 meters in both eyes. Biomicroscopic examination of his both eyes was normal. Optic atrophy was apparent in his both eyes on fundoscopic examination. He has been followed with the diagnosis of diabetes mellitus type 1 for the last two years and had nocturnal enuresis. He was diagnosed as Wolfram (DIDMOAD syndrome based on the results of clinical and laboratory examinations. His medical management has been carried out carefully however he was no longer able to attend his school. His IQ was within normal ranges and he was referred to a school which educates visually disabled children. Wolfram syndrome can easily be diagnosed in outpatient clinics since it does not require a genetic analysis. Physicians should keep in mind this diagnosis during their daily practice and provide the best management to the patient by achieving interdisciplinary co-operation.

  8. Case report: nephrotic syndrome associated with a total hydatidiform mole.

    Science.gov (United States)

    Komatsuda, A; Nakamoto, Y; Asakura, K; Yasuda, T; Imai, H; Miura, A B

    1992-05-01

    The authors describe a 51-year-old Japanese woman who developed nephrotic syndrome in association with a total hydatidiform mole. The nephrotic syndrome remitted completely following hysterectomy. A renal biopsy performed before the operation showed diffuse mesangial cell proliferation of a moderate degree, and thickened capillary walls with focal and segmental subendothelial deposits, as well as circumferential mesangial interposition. Occasional foci of the mesangiolysis were also observed. Immunofluorescence microscopy revealed granular staining of IgM along the glomerular capillary walls in a fringe pattern. A review of the literature revealed that this patient appears to be the first case of nephrotic syndrome associated with a total mole, although there have been two cases of nephrotic syndrome due to preeclamptic nephropathy associated with a partial or transitional mole.

  9. Cochlear vertebral entrapment syndrome: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Liu Chinghsiung; Lin Shinnkuang E-mail: sk1943@adm.cgmh.org.tw; Chang Yeujhy

    2001-11-01

    The authors describe a patient with isolated involvement of vestibulocochlear nerve by a huge vascular loop from vertebral dolichoectasia. No other neurological deficit was found except for unilateral hearing loss. Abnormal brainstem auditory evoked potential study indicated a retrocochlear lesion. The brain computed tomography (CT) and magnetic resonance imaging (MRI) studies demonstrated an abnormally enhanced vascular lesion impinged on the left porus acusticus with a displacement of the brainstem to the right. There was no infarction in the brainstem. A cerebral angiography demonstrated a megadolichoectatic horizontal loop at the intracranial portion of the left vertebral artery. There was no thrombus or atherosclerosis in the vertebrobasilar system. A mechanical compression by a vascular loop is the only possible pathogenesis for hearing loss. The authors diagnose this condition as cochlear vertebral entrapment syndrome.

  10. A case of piriformis syndrome presenting as radiculopathy

    Directory of Open Access Journals (Sweden)

    Rammurthy Kulkarni

    2015-01-01

    Full Text Available Piriformis syndrome has always remained as a diagnostic dilemma because of its varied presentation. Piriformis syndrome is myofascial dysfunction syndrome which causes pain not only because of trigger points within the muscle but also due to peripheral neuritis of the sciatic nerve. The sciatic neuritis is due to compression of the nerve as it passes through the greater sciatic foramen. The symptoms of sciatic nerve entrapment caused by the piriformis syndrome can be easily mistaken for radiculopathy as the nerve entrapment causes pain which radiates down below the knee and can go up to the foot. Electromyography (EMG and nerve conduction velocity (NCV studies can help differentiating these two conditions and can eliminate the need for the magnetic resonance imaging (MRI. In this paper, we have reported a case of piriformis syndrome which mimicked S 1 radiculopathy, where diagnosis was confirmed by diagnostic piriformis injection.

  11. Gianotti-Crosti syndrome: a case report of a teenager.

    Science.gov (United States)

    Pedreira, Renata Leite; Leal, Juliana Martins; Silvestre, Keline Jácome; Lisboa, Alice Paixão; Gripp, Alexandre Carlos

    2016-01-01

    Gianotti-Crosti syndrome is a rare disease characterized by acral papular eruption with symmetrical distribution. It is a benign and self-limited disease; the symptoms disappear after two to eight weeks, without recurrences or scars. Skin lesions are usually asymptomatic. Prodrome might occur, suggesting upper respiratory infection, or constitutional symptoms. Diagnosis is eminently clinical, and this disease is associated with viral infections. Due to its rarity and low occurrence in adolescents and adults, we report a case of Gianotti-Crosti syndrome of a teenager.

  12. Dorsal dimelia in patau syndrome: a case report.

    Science.gov (United States)

    Fattah, A; Pickford, M A

    2007-10-01

    We present a case of a child with Patau syndrome that exhibits features consistent with congenital palmar nail syndrome. The literature is reviewed and evidence presented to demonstrate that this is a defect in the dorso-ventral patterning of the limb and thus a form of dorsal dimelia. In order to differentiate this from other instances of ectopic nail tissue we suggest congenital palmar nail syndrome should be more specifically defined as duplicated nails, absent flexion creases, non-glabrous skin on the palmar surface, reduced movement at the interphalangeal joints and hypoplastic terminal phalanges.

  13. Gitelman’s syndrome presented with tetany: a case report

    Directory of Open Access Journals (Sweden)

    Md. Zahid Alam

    2012-01-01

    Full Text Available Gitelman’s syndrome is an autosomal recessive disorder caused by a defect of the thiazide-sensitive sodium chloride co-transporter at the distal tubule, characterized by hypomagnesemia, hypokalemic alkalosis and hypocalciuria. We report a case of Gitlman’s syndrome in a 44 years old female patient who presented with generalized muscle weakness and carpal spasm and characteristic electrolyte abnormalities. This condition is sometimes confused with Bartter’s syndrome. Ibrahim Med. Coll. J. 2012; 6(1: 34-36

  14. Mazabrauds Syndrome: A Case Diagnosed by Radiologic Findings

    Directory of Open Access Journals (Sweden)

    Tarkan Ergun

    2014-02-01

    Full Text Available Mazabraud%u2019s syndrome is defined as a rare coexistence of intramuscular myxomas and fibrous dysplasia of bone. We present a case of Mazabraud%u2019s syndrome diagnosed by CT and MRI findings in a 72-year-old man. The recognition of this entity is important for correct diagnosis and to reduce unnecessary biopsy and resection. Patients with Mazabraud%u2019s syndrome should be followed-up carefully because of malignant transformation risk of fibrous dysplasia lesions.

  15. Eagle′s syndrome: A rare case of young female

    Directory of Open Access Journals (Sweden)

    Mohammad Abdul Baseer

    2013-01-01

    Full Text Available Eagle′s syndrome is a condition that causes pain in the Craniofacial and cervical region of the neck. Symptoms related to the Eagle′s syndrome may be confused with the variety of neuralgias, oral, dental and temporomandibular joint (TMJ conditions. In this paper, a case of the very young female suffering with the difficulty in swallowing and recurrent dull pain in the throat with restriction of the movement of head to the left side was presented. A thorough past medical and dental history, extra oral and intra oral examination coupled with the panoramic radiographic interpretation were used to diagnose Eagle′s syndrome.

  16. Incomplete McCune-Albright Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Nagehan Aslan

    2014-08-01

    Full Text Available Fibrous dysplasia of bone is a genetic, non-inheritable disease that can cause bone pain, bone deformities and fracture. It has a large clinic spectrum from benign monostotic fibrous dysplasia to McCune-Albright syndrome. Rare McCune-Albright syndrome is characterized by precocious puberty, cafe au lait spots and fibrous dysplasia. Herein we presented a case who was preferred to hospital with pathological fractures and diagnosed with Incomplet McCune Albright syndrome because of the lack of endocrine hyperfunction and developed early puberty at clinical course.

  17. Axenfeld-Rieger syndrome (ARS): A review and case report.

    LENUS (Irish Health Repository)

    Waldron, Jennie M

    2011-08-29

    Axenfeld-Rieger syndrome (ARS) is a rare, autosomal dominant condition characterized by ocular, craniofacial, dental, and periumbilical abnormalities. Relatively little information exists on this syndrome within the dental literature despite the fact that midface hypoplasia and maxillary hypodontia are classical presenting features of this syndrome. This is a case report of a 7-year-old Caucasian female with ARS who presented with significant ocular and dental anomalies. She was also found to have osteopenia. Her dental condition is described, her immediate treatment is shown, and her long-term treatment needs are discussed.

  18. Say syndrome: A new Brazilian case

    Directory of Open Access Journals (Sweden)

    M.L. Guion-Almeida

    1998-12-01

    Full Text Available We report on a Brazilian boy, born to nonconsanguineous parents, who presented short stature, microcephaly, large ears, Robin sequence, hand anomalies, delayed bone age, and developmental delay. Major signs found in this patient are related to the Say syndrome.Os autores descrevem um menino, filho de pais normais e não-consanguíneos, apresentando baixa estatura, microcefalia, orelhas grandes, seqüência de Robin, anomalias digitais, atraso na idade óssea e atraso no desenvolvimento neuropsicomotor. Estudo cromossômico mostrou cariótipo normal, 46,XY. Os achados são compatíveis com a síndrome de Say.

  19. Hepatic infarction in HELLP syndrome; a case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Mi Jeong; Kim, Hong [Keimyung Univ. School of Medicine, Taegu (Korea, Republic of)

    2000-11-01

    Hepatic infarction is a rare but potentially life-threatening complication of pregnancy-associated preeclampsia or HELLP (hemolysis, elevated liver function tests, low platelets) syndrome. We present a case of hepatic infarction subsequent to HELLP syndrome and occurring during the immediate postpartum, and the associated radiologic findings. Sonography revealed poorly defined hypoechoic zones of infarction. Computed tomography(CT) demonstrated the characteristic features of nonenhancing, low attenuation, relatively well-defined, wedge shaped or geographic hepatic lesions, without mass effect.

  20. [Fahr syndrome secondary to primary hypoparathyroidism: about a case].

    Science.gov (United States)

    El Boukhrissi, Fatima; Zoulati, Ghizlane; En-Nafaa, Issam; Ouleghzal, Hassan; Derrou, Sara; Safi, Soumaya; Bamou, Youssef; Balouch, Lhoussine

    2017-01-01

    Fahr syndrome is a rare anatomo-clinic disease whose most common cause is primary or postoperative hypoparathyroidism. It is characterized by bilateral and symmetrical intracerebral calcifications located in the central gray nuclei, most often associated with phosphocalcium metabolism disorders. We here report the case of a 54-year old patient who had been treated for primary hypoparathyroidism for 20 years, presenting with amnesic disorders revealing Fahr syndrome secondary to hypoparathyroidism.

  1. Transurethral resection of prostate syndrome: report of a case

    OpenAIRE

    Boukatta, Brahim; Sbai, Hicham; Messaoudi, Ferdaous; Lafrayiji, Zakaria; El Bouazzaoui, Abderrahim; Kanjaa, Nabil

    2013-01-01

    We report a case of transurethral resection of prostate (TURP) syndrome. A 78-year-old man with prostatic hypertrophy was scheduled for transurethral resection of the prostate under spinal anesthesia. 30 minutes after the end of the surgery, the patient presented signs of TURP syndrome with bradycardia, arterial hypotension, cyanosis, hypoxemia and coma. The electrolytes analysis revealed an acute hyponatremia (sodium concentration 125 mmol/L). Medical treatment consisted of hypertonic saline...

  2. A case of Schöpf-Schulz-Passarge syndrome.

    Science.gov (United States)

    Hampton, P J; Angus, B; Carmichael, A J

    2005-09-01

    Schöpf-Schulz-Passarge syndrome (SSPS) is a rare ectodermal dysplasia characterized by hypodontia, hypotrichosis, nail dystrophy, palmoplantar keratoderma, and periocular and eyelid margin apocrine hidrocystomas. Several other skin tumours have been described in association with this syndrome, in particular, multiple palmoplantar eccrine syringofibroadenoma (ESFA). We report a case of SSPS with diffuse palmoplantar hyperkeratosis, which was shown by histology and immunocytochemistry to be due to ESFA.

  3. CASE SERIES Cubital tunnel syndrome: A report of two cases

    African Journals Online (AJOL)

    Introduction. Cubital tunnel syndrome occurs as a result of compression of the ulnar nerve between the medial epicondyle, the olecranon and the roof of the tunnel that is formed by the retinaculum which is also known as. Osborne's band or the arcuate ligament.1,2 Physiological compression occurs during elbow flexion, but ...

  4. Gorlin-Goltz syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    Chetan A Pol

    2013-01-01

    Full Text Available Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts (OKCs and musculoskeletal malformations. A rare case of this syndrome observed in a 13-year-old male patient is presented in which multiple OKCs were causing disfigurement of the lower jaw as well as displacement and malocclusion of the teeth. Early diagnosis and treatment of this syndrome is important to reduce the severity of complications including cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction due to jaw cysts.

  5. Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report

    OpenAIRE

    Shukla Umesh; Yadav Dinesh K; Goyal Deepak; Sethi Sidharth K

    2010-01-01

    Abstract Introduction We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. Case presentation A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. A thorough medical examination and evaluation revealed she had phenotypic...

  6. CASE REPORT Thirty years old lady with nephrotic syndrome: a ...

    African Journals Online (AJOL)

    CASE REPORT. Thirty years old lady with nephrotic syndrome: a case of biopsy proven lupus nephritis in Tanzania. FRANCIS FREDRICK1,2*, PASCHAL J. RUGGAJO2,3,GYAVIIRA MAKANGA3, CHARLES K. SHIJA3, MIKAEL. AMDEMARIAM3, BELSON RUGWIZAGONGA4 and JAMES N. KITINYA4. 1Department of ...

  7. A case of Pallister-Killian syndrome associated with West syndrome.

    Science.gov (United States)

    Yamamoto, Hitoshi; Fukuda, Miho; Murakami, Hiroshi; Kamiyama, Noriko; Miyamoto, Yusaku

    2007-09-01

    We report the case of a 19-month-old boy with Pallister-Killian syndrome associated with West syndrome. The child was born at term to a healthy mother after an uneventful pregnancy. He was born by cesarean section because of fetal macrosomia. He was observed to have nystagmus, craniofacial dysmorphism, and mental retardation. Intractable epileptic spasms developed 17 months after birth, and electroencephalography revealed a modified hypsarrhythmia. The seizures were uncontrollable with sodium valproate monotherapy. At the age of 19 months, the child was diagnosed with Pallister-Killian syndrome of mosaic tetrasomy 12p by fluorescence in situ hybridization. Combination treatment with high-dose pyridoxal phosphate and sodium valproate eliminated seizures and improved the electroencephalographic abnormalities. To our knowledge, this is the first reported case of Pallister-Killian syndrome associated with West syndrome.

  8. Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of "Incomplete syndrome"

    Directory of Open Access Journals (Sweden)

    P K Shivaprakash

    2012-01-01

    Full Text Available Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature. However, we report a case of incomplete EEC syndrome having ectrodactyly and cleft lip and palate with absence of signs of ectodermal dysplasia with no other systemic anomalies. Other feature noted is the syndactyly of toes which is reported rarely in this syndrome. A multidisciplinary approach for treatment is needed which is co-ordinated by pedodontist or pediatrician.

  9. Mirizzi syndrome associated with hepatic artery pseudoaneurysm: a case report

    Directory of Open Access Journals (Sweden)

    Anderson Oliver

    2008-11-01

    Full Text Available Abstract Introduction This is the first case report of Mirizzi syndrome associated with hepatic artery pseudoaneurysm. Case presentation A 54-year-old man presented with painful obstructive jaundice and weight loss. Computed tomography showed a hilar mass in the liver. Following an episode of haemobilia, angiography demonstrated a pseudoaneurysm of a branch of the right hepatic artery that was embolised. At surgery, a gallstone causing Mirizzi type II syndrome was found to be responsible for the biliary obstruction and a necrotic inflammatory mass and haematoma were found to be extending into the liver. The mass was debrided and drained, the obstructing stones removed and the bile duct drained with a t-tube. The patient made a full recovery. Conclusion This case highlights another situation where there may be difficulty in differentiating Mirizzi syndrome from biliary tract cancer.

  10. A Case of Congenital Syndromic Hydrocephalus: A Subtype of ‘Game-Friedman-Paradice Syndrome'

    Directory of Open Access Journals (Sweden)

    Tapan Kumar Jana

    2013-01-01

    Full Text Available Human hydrocephalus is a disorder of abnormality in CSF flow or resorption, which has been classified in pertinent literature as congenital and acquired. Congenital hydrocephalus can present as an isolated phenomenon which is common; or with associated anomalies affecting other organs, disturbing physiology or presenting as a syndrome. This report describes a case with congenital foetal hydrocephalus, hypoplastic lungs with super-numery lobations and large left lobe of liver compared to right. Thus far, a review of the literature indicates that this case can be postulated as a subtype of Game-Friedman-Paradice syndrome.

  11. Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (swyer syndrome: a case report

    Directory of Open Access Journals (Sweden)

    He Anguang

    2011-09-01

    Full Text Available Abstract Simple 46, XY gonadal dysgenesis syndrome, also called Swyer syndrome, is known as pure gonadal dysgenesis. Individuals with the syndrome are characterized by 46, XY karyotype and phenotypically female with female genital appearance, normal Müllerian structures and absent testicular tissue. The condition usually first becomes apparent in adolescence with delayed puberty and primary amenorrhea due to the gonads have no hormonal or reproductive potential. Herein, we report a case of dysgerminoma diagnosed in a dysgenetic gonad of a 21-year-old patient with Swyer syndrome.

  12. Histopathologic features in a case of hyperimmunoglobulinemia D syndrome

    Directory of Open Access Journals (Sweden)

    Sarah Pace

    2015-01-01

    Full Text Available We describe a case of Mevalonate Kinase Deficiency (MKD also known as Hyperimmunoglobulinemia D Syndrome (HIDS presenting as a Sweet-like syndrome in a 5-week-old with multiple erythematous plaques, fever, aseptic meningitis, and bronchiolitis. The locations of the predominant plaques were periumbilical and periocular, which originally prompted concern for omphalitis and preseptal cellulitis. Histopathology demonstrated a neutrophilic and histiocytic dermatitis with prominent squamous syringometaplasia and leukocytoclasis in the absence of a vasculitis. This case is reported here due to the unique findings of a prominent histiocytic component in addition to the typically described neutrophilic infiltrate.

  13. Recurrent hydramnios as a result of fetal Bartter′s syndrome (a case report.

    Directory of Open Access Journals (Sweden)

    Shah M

    1991-04-01

    Full Text Available Bartter′s syndrome has been reported as a rare case of hydramnios. A unique case of recurrent hydramnios in pregnancy as a result of fetal Bartter′s syndrome on both occasions is presented.

  14. Wolf–Hirschhorn syndromea case report

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    Halyna Bulak

    2017-06-01

    Full Text Available Wolf–Hirschhorn syndrome is a severe genetic condition that affects many systems of the human body. The genetic mechanism is based on the deletion of the distal portion of the short arm of chromosome 4 (4p. Individuals affected by the syndrome have a special phenotype: wide bridge of the nose, widely spaced eyes, micrognathia, microcephaly, growth retardation, cryptorchidism, heart defects, hearing loss and severe intellectual disability. The patient from our case report was hospitalised at the Lviv City Children’s Hospital at the age of six hours in a severe condition, with distinctive features of a genetic syndrome, which was connected with intraventricular haemorrhage. At the age of three months, he showed delayed physical and neurocognitive development and a characteristic appearance, which led to a specialist consultation to diagnose the genetic disease. This time, on the basis of clinical, laboratory and instrumental findings, the boy was diagnosed with Wolf–Hirschhorn syndrome.

  15. Mesothelioma of the testis and nephrotic syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Bacchetta Justine

    2009-06-01

    Full Text Available Abstract Introduction Paraneoplastic glomerulopathies are rare manifestations of neoplastic disease to be distinguished from iatrogenic renal damage. Solid tumors are preferentially associated with membranous nephropathy, whereas Hodgkin's lymphomas are associated with minimal change disease. Case presentation We report a 63-year-old Caucasian male diagnosed with a mesothelioma of the tunica vaginalis testis who, secondary to this, also presented with a nephrotic syndrome due to minimal change disease. In the present case, the paraneoplastic etiology of the nephrotic syndrome can be discussed on four unusual elements: minimal change lesions were found; the glomerulopathy was very sensitive to corticosteroids; the nephrotic syndrome occurred 11 months after the diagnosis of the primary malignancy, but concomitantly with the recurrence; and the nephrotic syndrome did not decrease with tumor control and did not recur when the mesothelioma escaped treatment. No other etiologies could nevertheless explain this phenomenon. Conclusion Paraneoplastic nephrotic syndrome is often associated with membranous nephropathy in patients with solid tumors, especially in patients with lung and gastrointestinal tract neoplasia. The management of these patients is associated with a symptomatic treatment such as sodium and water restriction, diuretics and ACE inhibitors and a prophylaxis of specific complications of nephrotic syndrome including thromboembolism, infections and lipid abnormalities. Treatment of neoplasia must be undertaken rapidly, treatments must be regularly analyzed and drugs binding to albumin may be used with precaution.

  16. [Immunogenetic study in a case of DiGeorge syndrome].

    Science.gov (United States)

    Ramos Artana, M; Orea Solano, M; Flores Sandoval, G

    1993-01-01

    DiGeorge Syndrome is a congenital immunodeficiency characterized clinically by hypocalcemic tetany, congenital heart disease, unusual facies, and increased susceptibility to infection. Pathologically, the syndrome is marked by the abscence or hipoplasia of the thymus and parathyroid glands as well as cardiac or aortic arch abnormalities. Most patients show partial or complete T cell immunodeficiency and normal or near-normal B-cell immunity. A review is made on a clinical case of DiGeorge syndrome is presented. A 52 days old boy, was admitted through emergency. There was no familial evidence of alcoholism or immunodeficiency. He showed irritability due to hypocalcemia. The examination revealed facial and cardiovascular abnormalities and the immunological investigation revealed hypogammaglobulinemia, deficiency of the cell, CD4 and CD8 decreased and with inverted relation. Chest X ray showed cardiomegaly grade II, and no thymus was seen. The diagnosis of the complete DiGeorge syndrome was based on the abnormalities found.

  17. 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.

  18. 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.

  19. GITELMAN SYNDROME AS A RARE CAUSE OF HYPOKALEMIA - CASE REPORT

    Directory of Open Access Journals (Sweden)

    Zorica Dimitrijević

    2014-09-01

    Full Text Available Gitelman syndrome is a rare autosomal recessive tubulopathy leading to hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria and low-to-normal blood pressure. Clinical signs are mostly secondary to chronic hypokalemia and include dizziness, fatigue, constipation and weakness. Patients can also present with muscle cramps, tetany and convulsions due to severe metabolic alkalosis or hypomagnesemia. Therefore, early recognition and treatment are important. Diagnosis of Gitelman syndrome is usually made incidentally during adolescence or early adulthood based on clinical and biochemical findings. In this paper we report a case of a young women with classic Gitelman syndrome. Treatment included magnesium and potassium salts and potassium saving diuretics. In general, the long-term prognosis of Gitelman syndrome is excellent. However, the severity of fatigue may seriously hamper some patients in their daily activities.

  20. Fahr’s syndrome and idiopathic hypoparathyroidism: A case report

    Directory of Open Access Journals (Sweden)

    Marinković Dejan M.

    2017-01-01

    Full Text Available Introduction. Fahr´s syndrome is a rare, slowly progressive, neurodegenerative disorder, characterised by extensive, bilateral, and symmetrical basal ganglia calcification. It is associated with neuropsychiatric manifestations and gradually progressive cognitive impairment. Fahr's syndrome is the secondary form of brain calcification that is caused by various metabolic, infectious, or degenerative diseases. Case report. We presented a middle-aged male with Fahr's syndrome due to primary idiopathic hypoparathyroidism. Clinical diagnosis was based on signs and symptoms of hypocalcemia, progressive neuropsychiatric illnesses, laboratory evidence of hypoparathyroidism, and radiological signs of calcifications in the basal ganglia. The patient improved after only a few days of intravenous rehydration and calcium substitution, followed by oral supplemental calcitriol. Conclusion. Timely recognition of idiopathic and iatrogenic hypoparathyroidism allows appropriate treatment that can prevent the development and clinical manifestations of Fahr´s syndrome and potentially slow its progression.

  1. A case of nephrotic syndrome associated with hydatiform mole.

    Science.gov (United States)

    Mohammadjafari, Razieh; Abedi, Parvin; Belady, Syfolah; Hamidehkho, Tarlan; Razi, Taghi

    2010-12-31

    The present case study is on a 16-year-old woman who was suffering from nephrotic syndrome after recovery from complete type of hydatiform mole. She was admitted in hospital because of proteinurea and hematuria. Then she was showing a generalized edema compatible with neprhotic syndrome. In her past medical history she had a suction curettage for hydatiform mole. After she received 4 courses chemotherapy, she completely recovered and βhCG has fallen from 12127 IU/L to under 10 IU/mL. Then she showed generalized edema, proteinurea and hematuria compatible with nephritic syndrome. After six courses chemotherapy the symptoms of nephrotic syndrome and invasive mole diminished, she released from hospital and scheduled for follow-up.

  2. A Case Report of Proteinuria with Sjogren's Syndrome

    Directory of Open Access Journals (Sweden)

    Jong-jin Jeong

    2008-12-01

    Full Text Available Objective : Sjogren's Syndrome is a chronic inflamatory disorder characterized by lymphocytic infiltration of lacrimal and salivary gland. It may be associated with renal disease such as tubulonephritis or glomerulonephritis. Proteinuria is a kidney disorder resulting in an abnormally high amount of protein in the urine. When the glomeruli are damaged, proteins of various sizes pass through them and are excreted in the urine. This report is a case of proteinuria with Sjogren's Syndrome. Methods : The patient was diagnosed as kidney yang deficiency syndrome and treated with Woogyu-eum, Sa-am acupuncture therapy and bee venom acupuncture therapy. Visual Analog Scale was used to estimate the clinical symptoms. Results : Clinical symptoms and proteinuria were improved without steroid therapy. Conclusion Therefore, we concluded that oriental medical therapy may be useful to treat proteinuria with Sjogren's Syndrome.

  3. Ischemic Stroke in Williams-Beuren Syndrome: A Case Report

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    Wei-Der Lee

    2009-04-01

    Full Text Available A 15-year-old girl was admitted because of an acute onset of facial palsy and right hemiparesis. The patient had a history of moderate mental retardation and developmental delay. On admission, her vital signs were stable, except for high blood pressure. Magnetic resonance imaging demonstrated an infarct involving the left internal capsule and putamen. Because of the patient's young age, an extensive stroke survey was performed. Williams-Beuren syndrome was finally confirmed by fluorescent in situ hybridization. Compared with the previously reported cases, no evidence of cerebral arterial stenosis or cardiac abnormalities was found by noninvasive imaging techniques. Because Williams-Beuren syndrome is a complex, multiple congenital anomaly syndrome with prominent cardiovascular features, regular assessment and antihypertensive treatment are necessary to minimize the lifelong cardiovascular risk in patients with this syndrome.

  4. Anton's syndrome due to cerebrovascular disease: a case report

    Directory of Open Access Journals (Sweden)

    Maddula Mohana

    2009-09-01

    Full Text Available Abstract Introduction Anton's syndrome describes the condition in which patients deny their blindness despite objective evidence of visual loss, and moreover confabulate to support their stance. It is a rare extension of cortical blindness in which, in addition to the injury to the occipital cortex, other cortical centres are also affected, with patients typically behaving as if they were sighted. Case presentation We present a case report of an 83-year-old white woman with cortical blindness as a result of bilateral occipital lobe infarcts. Despite her obvious blindness, illustrated by her walking into objects, the patient expressed denial of visual loss and demonstrated confabulation in her accounts of her surroundings, consistent with a diagnosis of Anton's syndrome. Conclusions A suspicion of cortical blindness and Anton's syndrome should be considered in patients with atypical visual loss and evidence of occipital lobe injury. Cerebrovascular disease is the most common cause of Anton's syndrome, as in our patient. However, any condition that may result in cortical blindness can potentially lead to Anton's syndrome. Recovery of visual function will depend on the underlying aetiology, with cases due to occipital lobe infarction after cerebrovascular events being less likely to result in complete recovery. Management in these circumstances should accordingly focus on secondary prevention and rehabilitation.

  5. Sinding-Larsen-Johansson syndrome: A case report

    Science.gov (United States)

    Valentino, M.; Quiligotti, C.; Ruggirello, M.

    2012-01-01

    The Sinding-Larsen-Johansson syndrome has a pathogenesis similar to that of the Osgood-Schlatter disorder and is the result of excessive force exerted by the patellar tendon on the lower pole of the patella. Clinically it is characterized by pain, which increases when the patellar is loaded during flexion, subpatellar swelling and functional limitation. The authors present a case of a 13-year-old boy who was a competitive youth team football player. He presented with anterior, spontaneous knee pain and swelling at the inferior pole of the patella. Ultrasonography (US) confirmed clinical diagnosis showing lesions typical of the Sinding-Larsen-Johansson syndrome. The patient was told to refrain from sports activity; after five months recovery was complete and US follow-up revealed no anomaly. The authors consider the case worthy of reporting because it is paradigmatic and to emphasize the role of US in the evaluation of the Sinding-Larsen-Johansson syndrome. PMID:23396672

  6. The Ironies of Human Mind: A Case of Rett Syndrome ...

    African Journals Online (AJOL)

    Background: Rett Syndrome (RS) is a chromosome X-linked genetic neurological disorder characterized by developmental regression, particularly in relation to expressive language and use of the hands. It is also associated with profound mental retardation and almost exclusively affects females. Case Details: A four and a ...

  7. Churg-Strauss syndrome associated with AA amyloidosis: a case ...

    African Journals Online (AJOL)

    Churg Strauss syndrome is a rare systemic and pulmonary vasculitis exceptionally associated with AA amyloidosis. We report the case of a 65-year old woman with past medical history of asthma. She developed polyarthralgia, headache and purpura. A laboratory workout found hypereosinophilia (1150/μL), positive ...

  8. Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report

    Science.gov (United States)

    Saldarriaga, Wilmar; Ruiz, Fabian Andres; Tassone, Flora; Hagerman, Randi

    2017-01-01

    Background: Down syndrome (DS) and Fragile X syndrome (FXS) are the major genetic causes of intellectual disabilities. Here, we present a case of a 32-year-old woman with the diagnosis of both FXS and DS. She is the daughter of a 47-year-old pre-mutation woman who also has three sons with FXS. Methods: Cytogenetic testing detected the presence of…

  9. A case of phace syndrome and acquired hypopituitarism?

    Directory of Open Access Journals (Sweden)

    Denzer Friederike

    2012-06-01

    Full Text Available Abstract Background PHACE is a neurocutaneous syndrome associated with: Posterior fossa brain malformations, large “segmental” facial hemangiomas, arterial cerebrovascular-, cardiovascular-, and eye anomalies. Case vignette We are reporting a girl with PHACE syndrome. The patient had a congenital right-sided facial hemangioma with plaque-morphology. At age 11 years and 2 months she presented with short stature, markedly decreased growth velocity and signs and symptoms suggestive of hypothyroidism. Magnetic Resonance Imaging (MRI of the brain revealed complex structural and cerebrovascular arterial anomalies, including an empty sella. Testing of pituitary function revealed multiple pituitary dysfunctions, including absolute growth hormone deficiency, hypogonadotropic hypogonadism, central hypothyroidism, and secondary adrenal insufficiency. Conclusions This case suggests the necessity to screen all patients with PHACE syndrome and intracranial malformations for pituitary dysfunction at regular intervals.

  10. Othello Syndrome Secondary to Ropinirole: A Case Study

    Directory of Open Access Journals (Sweden)

    Kakali Pal

    2012-01-01

    Full Text Available This case report describes a forty-two-year-old man with no previous psychiatric history who developed delusional jealousy (Othello Syndrome associated with ropinirole treatment. Ropinirole is a commonly used dopamine receptor agonist, which was being used to treat his Parkinson’s disease, and his delusional symptoms resolved entirely with ropinirole dose reduction.

  11. Othello syndrome secondary to ropinirole: a case study.

    Science.gov (United States)

    Pal, Kakali; Smith, Abigail; Hayes, Joseph; Chakraborty, Apu

    2012-01-01

    This case report describes a forty-two-year-old man with no previous psychiatric history who developed delusional jealousy (Othello Syndrome) associated with ropinirole treatment. Ropinirole is a commonly used dopamine receptor agonist, which was being used to treat his Parkinson's disease, and his delusional symptoms resolved entirely with ropinirole dose reduction.

  12. Stewart–Treves syndrome: a case report | Benmansour | Pan African ...

    African Journals Online (AJOL)

    Abstract. The Stewart-Treves syndrome was first described in 1948, it's an angiosarcoma developed on a longstanding lymphadenomatous limb, more often after radical mastectomy. Diagnosis is made on skin biopsy and the prognosis is poor when radical surgery can't be performed. We report the case on a Stewart-Treves ...

  13. Van Der Woude syndrome: report of a case | Newman | Ghana ...

    African Journals Online (AJOL)

    A rare case of Van Der Woude Syndrome, which is characterized by pits in the lower lip and bilateral cleft of the lip and cleft palate is presented. A multidisciplinary approach to treatment produced an aesthetically pleasing and functional outcome. Ghana Medical Journal Vol. 39(2) 2005: 68-70 ...

  14. Ortner’s syndrome: a case report and literature review

    Directory of Open Access Journals (Sweden)

    Bruno Landim Dutra

    2015-08-01

    Full Text Available AbstractThe authors report the case of a 55-year-old female, hypertensive, smoker patient presenting with dysphonia, dysphagia and persistent dry cough. Laryngoscopy diagnosed left vocal cord paralysis. Computed tomography demonstrated saccular aneurysm of the inferior wall of the aortic arch, stretching the left recurrent laryngeal nerve, a finding compatible with Ortner’s syndrome.

  15. Eagle syndrome: A case report | Atsukwei | Jos Journal of Medicine

    African Journals Online (AJOL)

    Jos Journal of Medicine. Journal Home · ABOUT THIS JOURNAL · Advanced Search · Current Issue · Archives · Journal Home > Vol 8, No 2 (2014) >. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register. Eagle syndrome: A case report. A Atsukwei. Abstract. NO Abstract.

  16. Ectopic decidual reaction mimicking irritable bowel syndrome: a case report.

    Directory of Open Access Journals (Sweden)

    Soraya Salehgargari

    2014-01-01

    Full Text Available Ectopic decidualization with gross involvement of the peritoneum is one of the rare findings in pregnant women particularly when ectopic decidualization disseminated as an asymptomatic intra-abdominal nodule. We present here a case of an ectopic decidualization in a 33-year-old pregnant woman with symptoms of irritable bowel syndrome during pregnancy.

  17. A rare case report: mucopoly-saccharidosis (hurler syndrome) with ...

    African Journals Online (AJOL)

    A rare case report: mucopoly-saccharidosis (hurler syndrome) with rachitic changes in a Nigerian. Egbuna Obidike, Ngozi R Njeze, AC Ude, GO Ossi. Abstract. No Abstract. West African Journal of Radiology Vol. 11(1) 2004: 14-18. Full Text: EMAIL FULL TEXT EMAIL FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD ...

  18. A case of Kartagener syndrome with rhinolalia clausa | Raoufi | Pan ...

    African Journals Online (AJOL)

    Kartagener syndrome is an autosomal recessive genetic ciliary disorder comprising of a classic triad of sinusitis, situs inversus and bronchiectasis. It's the one of primary ciliary dyskinesia disorders with manifestations present from childhood. Most patients of PCD have situs inversus. We present a case of 18 year-old women ...

  19. Concurrent insulinoma with mosaic Turner syndrome: A case report.

    Science.gov (United States)

    Wang, Shaoyun; Yang, Lijuan; Li, Jie; Mu, Yiming

    2015-03-01

    Turner syndrome is a chromosomal abnormality in which the majority of patients have a 45XO karyotype, while a small number have a 45XO/47XXX karyotype. Congenital adrenal hyperplasia has been previously reported in patients with Turner syndrome. Although insulinomas are the most common type of functioning pancreatic neuroendocrine tumor and have been reported in patients with multiple endocrine neoplasias, the tumors have not been reported in patients with mosaic Turner syndrome. The present study reports the first case of an insulinoma in a patient with 45XO/47XXX mosaic Turner syndrome. The patient suffered from recurrent hypoglycemia, which was relieved following ingestion of glucose or food. A 5-h glucose tolerance test was performed and the levels of glucose, C-Peptide and insulin were detected. In addition, computed tomography (CT) and ultrasound scanning were performed to evaluate the possibility of an insulinoma. Pathological examination and karyotyping were performed on a surgical specimen and a whole blood sample, respectively. The patient was found to suffer from premature ovarian failure, and a physical examination was consistent with a diagnosis of Turner syndrome. An ultrasound scan demonstrated streak ovaries and the patient was found to have a 45XO/47XXX karyotype. Furthermore, a lesion was detected in the pancreas following CT scanning, which was identified as an insulinoma following surgical removal and histological examination. In conclusion, the present study reports the first case of an insulinoma in a patient with mosaic Turner syndrome. Since mosaic Turner syndrome and insulinoma are rare diseases, an association may exist that has not been previously identified.

  20. Prune belly syndrome in an Egyptian infant with Down syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Metwalley Kotb A

    2008-10-01

    Full Text Available Abstract Introduction Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. Case presentation A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 μmol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. Conclusion We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

  1. Cowden syndrome- Clinico-radiological illustration of a rare case

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    Prashant B Patil

    2013-01-01

    Full Text Available Cowden syndrome (CS or multiple hamartoma syndrome is an infrequent genodermatoses, which is inherited as an autosomal dominant trait resulting from the mutation in the Phosphatase and Tensin homolog gene on the arm 10q and is principally characterized by multiple hamartomas with an increased risk of development of malignancies. Facial and oral signs are remarkable in the form of multiple papules and trichilemmomas on the face. We report one such rare case of CS in a 19-year-old patient who was diagnosed on the basis of her oral mucosal lesions and was further investigated and diagnosed with other hamartomas. The present case report signifies the responsibility of the oral physician in the early diagnosis of this progressive pathological syndrome as it leaves its footmark in the oral cavity in the form of oral mucosal lesions.

  2. Psychogenic Foreign Accent Syndrome: a new case

    Directory of Open Access Journals (Sweden)

    Stefanie eKeulen

    2016-04-01

    Full Text Available This paper presents the case of a 33-year-old, right-handed, French-speaking Belgian lady who was involved in a car accident as a pedestrian. Six months after the incident she developed a German/Flemish-like accent. The patient’s medical history, the onset of the FAS and the possible psychological causes of the accent change are analyzed. Relevant neuropsychological, neurolinguistic and psychodiagnostic test results are presented and discussed. The psychodiagnostic interview and testing will receive special attention, because these have been underreported in previous FAS case reports. Furthermore, an accent rating experiment was carried out in order to assess the foreign quality of the patient’s speech. Pre- and post-morbid spontaneous speech samples were analyzed phonetically to identify the pronunciation characteristics associated with this type of FAS. Several findings were considered essential in the diagnosis of psychogenic FAS: the psychological assessments as well as the clinical interview confirmed the presence of psychological problems, while neurological damage was excluded by means of repeated neuroimaging and neurological examinations. The type and nature of the speech symptoms and the accent fluctuations associated with the patient's psychological state cannot be explained by a neurological disorder. Moreover, the indifference of the patient towards her condition may also suggest a psychogenic etiology, as the opposite is usually observed in neurogenic FAS patients.

  3. Psychogenic Foreign Accent Syndrome: A New Case

    Science.gov (United States)

    Keulen, Stefanie; Verhoeven, Jo; De Page, Louis; Jonkers, Roel; Bastiaanse, Roelien; Mariën, Peter

    2016-01-01

    This paper presents the case of a 33-year-old, right-handed, French-speaking Belgian lady who was involved in a car accident as a pedestrian. Six months after the incident she developed a German/Flemish-like accent. The patient's medical history, the onset of the FAS and the possible psychological causes of the accent change are analyzed. Relevant neuropsychological, neurolinguistic, and psychodiagnostic test results are presented and discussed. The psychodiagnostic interview and testing will receive special attention, because these have been underreported in previous FAS case reports. Furthermore, an accent rating experiment was carried out in order to assess the foreign quality of the patient's speech. Pre- and post-morbid spontaneous speech samples were analyzed phonetically to identify the pronunciation characteristics associated with this type of FAS. Several findings were considered essential in the diagnosis of psychogenic FAS: the psychological assessments as well as the clinical interview confirmed the presence of psychological problems, while neurological damage was excluded by means of repeated neuroimaging and neurological examinations. The type and nature of the speech symptoms and the accent fluctuations associated with the patient's psychological state cannot be explained by a neurological disorder. Moreover, the indifference of the patient toward her condition may also suggest a psychogenic etiology, as the opposite is usually observed in neurogenic FAS patients. PMID:27148003

  4. [Femoral hypoplasia-unusual facies syndrome: A case report].

    Science.gov (United States)

    García V, Daniel; Aragón V, Carlos R; Treviño A, M Guadalupe; Rivera S, Gerardo

    2016-01-01

    Femoral hypoplasia-unusual facies syndrome is a rare disease with variable expressivity, although cases have been reported with an autosomal dominant pattern. It particularly affects the structures of the face associated with hypoplasia of the femur. Its aetiology is relatively unknown. However, this syndrome has been associated with maternal diabetes, drug exposure, viral infections, radiation, and oligohydramnios. The case of a newborn with this syndrome is presented. Newborn of 41 weeks gestation with small nose, thin upper lip, micrognathia, long philtrum, low set ears, epicanthal folds, dysplastic hips showing flexion, and adduction of the right leg, and shortening at the expense of the thigh. X-ray images revealed femoral hypoplasia and dysplastic acetabular roof. Different physicians from other specialties who excluded other associated malformations performed a complete evaluation. Surgical bone lengthening of lower limb is scheduled at 5 months of age, with the purpose that she walks with her own feet; at the same time she began management with kinesiotherapy. Femoral hypoplasia-unusual facies syndrome is a rare condition. A multidisciplinary health care team must treat individuals with femoral hypoplasia-unusual facies syndrome. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  5. Goldenhar syndrome: A case report and literature review | Bekibele ...

    African Journals Online (AJOL)

    The case of a 24-year-old female Nigerian with features of Goldenhar syndrome is presented and the challenges of management especially with reference to reconstructive facial surgery and general anaesthesia are discussed. Key words: Oculo-auriculo-vertebral dysplesia, Limbal dermoid, First branchial arch, Cleft ...

  6. Consonants in Cri du Chat Syndrome: A Case Study

    Science.gov (United States)

    Kristoffersen, Kristian Emil

    2008-01-01

    This article reports on a longitudinal case study of consonant productions in one Norwegian girl with Cri du chat syndrome from age 4;6 to age 9;4. It was shown that she had many articulation errors throughout the period of observation. Furthermore, these errors were shown to fall into three main categories: (1) errors of differentiation and…

  7. Pyloric atresia epidermolysis bullosa aplasia cutis syndrome: a case ...

    African Journals Online (AJOL)

    Pyloric atresia epidermolysis bullosa aplasia cutis syndrome: a case report and literature review. ... At birth, there was denuded skin over the right leg from the knee joint up to the middle of the right foot. Abdominal radiograph ... Examination indicated no signs of child abuse; the parents refused an autopsy exam for the child.

  8. Another cause of vaccine encephalopathy: A case of Angelman syndrome

    NARCIS (Netherlands)

    Novy, Jan; Catarino, Claudia B.; Chinthapalli, Krishna; Smith, Shelagh M.; Clayton-Smith, Jill; Hennekam, Raoul C. M.; Hammond, Peter; Sisodiya, Sanjay M.

    2012-01-01

    Dravet syndrome has been found recently as an important underlying condition in cases of alleged vaccine encephalopathy after pertussis vaccination, where vaccination seemed to have precipitated the occurrence of the disease without modifying the long-term course. We report on a patient diagnosed

  9. Charles BonnetSyndrome: A Case Report (Turkish

    Directory of Open Access Journals (Sweden)

    Ayşe Çakır

    2018-03-01

    Full Text Available Charles Bonnet Syndrome is defined as visual hallucination in visually impaired individuals who have intact cognitive skills and who have no psychiatric disorder or neurological lesion/abnormality finding. In this presentation; a case with bilateral primary optic atrophy secondary visual hallucination has been evaluated as Charles Bonnet Syndrome and has been discussed this case. A 74-year-old male, literate, married, retired. Bilateral optic nerve damage has developed in the patient due to a car accident that occurred 30 years ago. The patient who has been diagnosed with glaucoma 5 years ago has been unable to meet his daily needs for the last 2 years. The patient has begun to see mice that other people have not seen in the last 3 months. Necessary psychiatric, neurological and ophthalmic evaluations of the patient who applied to our clinic with these complaints were performed. In the ophthalmic examination performed; light sensation was reported as negative in both eyes. The patient was treated as Charles Bonnet Syndrome and the out patient clinic was treated. Previous studies have indicated that most patients with Charles Bonnet Syndrome didn't report their symptoms to family members or physicians in order not to be stigmatized by psychiatric illness. This case report emphasizes the importance of being able to find appropriate approaches to such cases, which may be lack of information between physicians and which are likely to be misdiagnosed.

  10. A case report of acute myelogenous leukemia with Turner Syndrome.

    Science.gov (United States)

    Siddiqui, Nadir; Ali Baig, Mirza Faris; Khan, Bilal Ahmed

    2017-09-01

    Turner Syndrome was diagnosed in a 45 years old female, known case of Acute Myeloid Leukaemia (AML) with maturation, on Bone Marrow biopsy. She presented with blurred vision, vertigo, exertional dyspnoea and insomnia. She did not show the typical features of Turner syndrome, but her cytogenetis confirmed the diagnosis. Bone marrow biopsy showed diffuse infiltration of blast cells with cellularity around 80-85% and haematopoietic suppression. Karyotype analysis showed: 45 X, -X, t (8; 21) (q22; q22) [According to The International System for Human Cytogenetic Nomenclature (ISCN)]. Turner syndrome is caused by partial or complete absence of second X chromosome in a female. It is known to have Cardiovascular and Reproductive complications but it is rare to find haematologic malignancies. There are few similar reported cases of AML associated with Turner syndrome, therefore this is a unique case presented to Jinnah Postgraduate Medical Center, Karachi, Pakistan and further research should be done to identify more similar cases to explore the prognostic significance of this association.

  11. Cornelia de-lange syndrome: a case report.

    Science.gov (United States)

    Mehta, Diana Noshir; Bhatia, Rupinder

    2013-05-01

    Cornelia de-Lange syndrome is a congenital anomaly syndrome characterized by distinctive facial dysmorphism, primordial short stature, hirsutism, and upper limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly. Craniofacial features include synophrys, arched eyebrows, long eyelashes, small widely spaced teeth and microcephaly. IQ ranges from between 30 and 102 with an average of 53. Many individuals demonstrate autistic and self-destructive tendencies. It is an autosomal dominant disorder caused by specific gene mutations and occurrence is one in 30,000 to 50,000 children. This article describes a report of a classical case of the syndrome of a 10-year-old boy and emphasizes the oral and systemic findings. The role of the pediatric dentist, with his expertize in prevention, skills of behavior management and timely referral to medical speciality, is of paramount importance in the management of children with this syndrome. How to cite this article: Mehta DN, Bhatia R. Cornelia De-Lange Syndrome: A Case Report. Int J Clin Pediatr Dent 2013;6(2):115-118.

  12. A case report of Mounier-Kuhn syndrome

    Directory of Open Access Journals (Sweden)

    Keerthivasan Sivanmani

    2017-01-01

    Full Text Available Mounier-Kuhn syndrome is a congenital abnormality characterized by tracheobronchomegaly as a result of atrophy or absence of elastic fibers and thinning of smooth muscle layer in trachea and main bronchi. The usual presentation is one of recurrent respiratory tract infections with a broad spectrum of functional impairment ranging from minimal disease with preservation of lung function to severe disease in the form of bronchiectasis. We describe a case of an elderly man who presented with a recurrent respiratory infection who was subsequently diagnosed as Mounier-Kuhn syndrome.

  13. Granulomatous slack skin syndrome: Report of a unique case.

    Science.gov (United States)

    Maheswari, S Uma; Sampath, V; Ramesh, A

    2018-01-01

    Granulomatous slack skin syndrome is a rare variant of cutaneous T-cell lymphoma (mycosis fungoides). It is characterized clinically by redundant skin folds, which show a predilection towards flexural areas such as the axilla and the groin. Histologically, it shows a granulomatous T-cell infiltrate and loss of elastic tissue. It has an indolent but progressive course; and is usually refractory to treatment. We report a unique case of slack skin syndrome, sparing the classical sites with rapid and unusual involvement of non-intertriginous areas.

  14. [Cotard's syndrome: Case report and a brief review of literature].

    Science.gov (United States)

    Moschopoulos, N P; Kaprinis, S; Nimatoudis, J

    2016-01-01

    The term "Cotard's syndrome" is used to describe a number of clinical features, mostly hypochondriac and nihilistic delusions, the most characteristic of which are the ideas "I am dead" and "my internal organs do not exist". Besides, anxious and depressed mood, delusions of damnation, possession and immortality, suicidal and self-mutilating behavior are included. The first description of the syndrome was made in 1880 by Cotard, who presented the case of a female patient in a lecture. He originally named it "hypochondriac delusion", and some years later "delusion of negations", while it was named "Cotard delusion" after his death. In international literature, the terms "nihilistic delusion" and "Cotard's syndrome" prevailed over "delusion of negations" and "Cotard delusion". In the present study we report the case of a 59 year-old woman, who was admitted to our department after a suicide attempt, and who showed symptoms of Cotard's syndrome for about two years, namely depressed mood, hypochondriac and nihilistic delusions, delusions of immortality and damnation, suicidal ideation, severe psychomotor retardation, diminished motivation and tendency to stay in bed. She never took the medication she was prescribed, and at times she refused to eat. During her hospitalization, there was performed a full blood panel and medical imaging, that showed chronic ischemic infarctions, periventricular leukoencephalopathy and diffuse cerebral atrophy in MRI. All the other test results were normal. She was administered treatment with haloperidol, mirtazapine and venlafaxine. Gradually, her psychomotor ability, motivation and mood improved, she didn't express suicidal ideation, her delusions were less intense and she was able to question them, but they weren't eliminated. She was discharged in improved condition, after 44 days. Cotard's syndrome isn't mentioned in the current classification systems (ICD-10, DSM-5). In literature though, it has been divided into three types, according

  15. Cri du Chat Syndrome: a case report from Ghana.

    Science.gov (United States)

    Badoe, E V

    2014-01-01

    Cri du Chat Syndrome (CdCS) is rare and occurs as a result of a partial deletion in the short arm of chromosome 5. There are no reports in the literature from the West African sub-region and indeed very few from Africa. A case of Cri du Chat Syndrome is described in Ghana. Dysmorphology training is strongly recommended for post graduate training programmes in the sub-region.All children with dysmorphic features deserve an accurate diagnosis to enable helpful genetic counseling and prognosis to be determined.

  16. Werewolf syndrome associated with gingival fibromatosis: A rare case report

    Directory of Open Access Journals (Sweden)

    Mysore K Sunil

    2016-01-01

    Full Text Available Hypertrichosis is a rare disorder that causes abnormal excessive body hair growth. Hypertrichosis has informally been called werewolf syndrome because the appearance is similar to that of a werewolf. It is often associated with additional anomalies including gingival hyperplasia, deafness, cardiomegaly and bone abnormalities. The association of gingival fibromatosis and a coarse facies could further worsen the esthetics. Thus, a multidisciplinary approach involving a psychologist, a dentist as well as a dermatologist would be mandatory. We present this rare syndrome describing a case of a 9-year-old boy with congenital hypertrichosis and gingival fibromatosis. The growth being normal, the features of this boy were similar to hypertrichosis. Hypertrichosis has informally been called werewolf syndrome because the appearance is similar to the werewolf.

  17. Non-syndrome multiple supernumerary teeth: A case report.

    Science.gov (United States)

    Gündüz, Kaan; Muğlali, Mehtap

    2007-05-01

    The purpose of this case report is to present a case of a non-syndrome male patient with multiple supplemental supernumerary teeth in three quadrants of his mouth. Supernumerary teeth are described as the teeth formed in excess of the number found in a normal dentition. Prevalence of supernumerary teeth varies between 0.1% and 3.8% in the general Caucasian population. Multiple supernumerary teeth are not a common occurrence, although a single or a few supernumerary tooth/teeth in each case have been widely reported in the literature. An 11-year-old male presented for a routine preventive dental visit. A routine panoramic radiograph showed the presence of multiple supernumerary teeth which were located in the maxillary right canine incisor region, the maxillary left premolar region, and the mandibular right premolar region. The family's medical history was non-contributory, and an extraoral examination did not reveal any abnormality. It is rare to find multiple supernumerary teeth in individuals with no other associated diseases or syndromes. This case report presents a case of a non-syndrome male patient with multiple supplemental supernumerary teeth in three quadrants of his mouth.

  18. Radiological features of Lemierre's syndrome: A case report

    International Nuclear Information System (INIS)

    Tapia-Vine, M. M.; Gonzalez-Garcia, B.; Bustos, A.; Cabello, J.

    2001-01-01

    Lemierre's syndrome is a type of sepsis caused by anaerobes that is secondary to a pharyngotonsillar infection complicated by suppurative thrombophlebitis of ipsilateral jugular vein and septic emboli. Imaging studies are valuable tools for confirming the diagnosis. Chest x-ray reveals poorly defined cavitated, peripheral, nodular lesions. computed tomography (CT) is useful in confirming the pulmonary lesions, which are suggestive of septic emboli. Doppler ultrasound of the neck plays and indispensable role in demonstrating the internal jugular vein thrombosis. We report the case of patient who presented the characteristic clinical and radiological features of Lemierre's syndrome. (Author) 17 refs

  19. The neuroradiological findings in a case of Revesz syndrome

    International Nuclear Information System (INIS)

    Scheinfeld, Meir H.; Lui, Yvonne W.; Gomes, William A.; Bello, Jacqueline A.; Kolb, Edward A.; Engel, Harry M.; Weidenheim, Karen M.

    2007-01-01

    Revesz syndrome is a variant of dyskeratosis congenita characterized by aplastic anemia, retinopathy, and central nervous system abnormalities. We describe a 3-year-old boy in whom the spectrum of neuroimaging findings, including intracranial calcifications, cerebellar hypoplasia and unusual brain lesions were found by biopsy to be gliosis despite their enhancement and progression. In patients with dyskeratosis-related syndromes, non-neoplastic parenchymal brain lesions occur and gliosis should be considered in the differential diagnosis for progressive enhancing brain lesions. Should this finding be confirmed consistently in additional cases, brain biopsy could potentially be avoided. (orig.)

  20. Aicardi syndrome: a case report and radiologic findings

    International Nuclear Information System (INIS)

    Granzotto, Enrico; Prado, Cecilia Hissae Miyake Almeida; Barros, Andre Della Barba; Botter, Carlos Eduardo; Mendes, Rozana de Miranda; Granzotto, Ticiana

    2008-01-01

    The authors report the findings of Aicardi syndrome, a disease of unknown etiology composed of multiple spasms, chorioretinal lacunae and agenesis of the corpus callosum. They present a case of Aicardi syndrome with characteristic clinical presentation and magnetic resonance imaging findings. The disease, despite being considered rare, has characteristic imaging findings. Over the past years magnetic resonance imaging has improved its ability in demonstrating other findings besides agenesis of the corpus callosum, making the radiologist's role very important in the diagnostic suspicion of this disease. (author)

  1. THE DIAGNOSIS AND TREATMENT OF PANDAS SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    V. I. Kharitonov

    2014-01-01

    Full Text Available This paper describes a case of PANDAS in a 12-year-old girl. The unusual clinical manifestations and course of the disease as long-term sneezing attacks make the diagnosis of the syndrome difficult. Long-term video-assisted electroencephalographic monitoring, brain magnetic resonance imaging, and blood biochemical tests could define the nature of the condition. Antibiotic therapy and intravenous immunoglobulin could achieve remission. Further investigations are needed to evaluate the efficacy of antibiotics and intravenous immunoglobulin in this syndrome.

  2. A case of idiopathic intracranial calcifications - Hahr syndrome

    International Nuclear Information System (INIS)

    Georgiev, R.; Balev, B.; Georgieva, M.; Georgiev, J.

    2006-01-01

    Full text: The purpose of the study is to review the clinical manifestation, imaging characteristics and pathophysiology of the Fahr syndrome and to present a case of the Fahr syndrome from our clinic. The Fahr syndrome is a rare neurodegenerative disorder, characterized by seizures, tetany, psychomotor retardation, development of a spastic paralysis, athetosis and parkinson like syndrome. It is inherited by an AR way but in affected families (relatives) an AD way is also possible. Sporadic cases have been known. Recently a possible chromosome locus on 14q was proved. Probably the case in point is a group of anomalies, in which symmetrically and bilaterally significant calcifications in the region of the basal ganglia, dentate nuclei in cerebellum and centrum semiovale are found. It is not clear yet whether these calcifications are a result from a 'metastatic' deposition because of a local destruction of the blood-brain barrier or are due to a disturbance in the neuronic calcium metabolism. The X-ray findings could be accidental in an asymptomatic patient but a progressive development of an extrapyramidal syndrome may be also observed. Our case is a 37 years old woman with seizures with loss of consciousness, convulsions and urine incontinence. The complaints are dated from the age of 5 years old. The X-ray images disclosed striking non-natural calcifications in globus pallidus, putamen, n.caudatus, thalami, n.dentati, cerebellum.The blood test revealed normal serum levels of calcium, phosphorus, alkaline phosphatase. The CT findings put together with the typical clinical history and the normal blood test were a prerequisite for this diagnosis

  3. Guillain-Barre syndrome associated with hemorrhagic fever with renal syndrome in China: a case report.

    Science.gov (United States)

    Jiao, Jie; Wu, Lei; Yin, Jianyuan; Quan, Xiaojiao; Chen, Wei; Hu, Jie

    2018-03-27

    We describe a case of Guillain-Barre syndrome (GBS) associated with hemorrhagic fever with renal syndrome. To our knowledge, only five cases of GBS associated with Hantavirus infection have been reported so far. A 62-year-old man presented intermittent fever, chill and oliguria. According to remarkable leukocytosis, atypical lymphocytes, thrombocytopenia and former dwelling in hemorrhagic fever-endemic area, he was suspected as hemorrhagic fever with renal syndromeand certified with positive Hantavirus IgG. Later, the patient had symmetrical flaccid paralysis of all extremities. Electromyography showed peripheral nerve injury (mainly in axon). The patient was diagnosed as having acute motor sensory axonal neuropathy (AMSAN). After immunoglobulin infusion, patient showed progressive recovery and was transferred 3 weeks after his first admission to a rehabilitation center. Our case was the 6th reported case of GBS associated with hemorrhagic fever with renal syndrome. Moreover, we for the first time classified the subtype of GBS (AMSAN) based on the electrophysiology characteristics. GBS should be suspected in patients who are already diagnosed as hemorrhagic fever with renal syndrome when delayed symmetrical limb paralysis occurs. Until recent now, GBS was only reported in hemorrhagic fever patients in Europe and Asia, which termed as hemorrhagic fever with renal syndrome.

  4. A case study on successful ayurvedic management of a rare case of reiter's syndrome

    Directory of Open Access Journals (Sweden)

    Vaishali Kuchewar

    2017-01-01

    Full Text Available Reiter's syndrome is a clinical syndrome of arthritis, urethritis, conjunctivitis, and mucocutaneous lesions. Skin and mucosal involvement is observed in about 10% of the cases. A 34-year-old male was brought in severe condition. He had red colored foul smelling maculopapular skin lesions all over body, swollen and painful knee and shoulder joints. History revealed that he was suffering from Reiter's syndrome since 2003. He used to get admitted between the months of February and May every year due to aggravation of symptoms. Every time he was treated with systemic antibiotics, corticosteroids, immunosuppressants and non-steroidal anti-inflammatory drugs. He was successfully treated with external application and internal medication with tikta (bitter and kaṣāya (astringent drugs. He got significant relief in skin lesions as well as joint pain and his quality of life was markedly improved. This case study demonstrates that Reiter's syndrome can be well managed with Ayurvedic medicines.

  5. Joubert Syndrome: Imaging Features and Illustration of a Case

    International Nuclear Information System (INIS)

    Arora, Richa

    2014-01-01

    Joubert Syndrome (JS) is a rare autosomal recessive disorder characterised clinically by neonatal breathing dysregulation, developmental delay, intellectual disability, hypotonia, ataxia, nystagmus. We present another case of this uncommon syndrome in a 12 years old patient presenting with classical complaints of developmental delay, intellectual impairment, weakness in both lower limbs, ataxia and abnormal facies and diagnosed on Computed Tomography. Joubert Syndrome should be ruled out in all patients presenting with hypotonia, ataxia, nystagmus, breathing abnormalities and developmental delay. Its neuroimaging hallmarks include molar tooth sign and batwing shaped fourth ventricle. As JS is associated with multiorgan involvement, these patients should enter a diagnostic protocol to assess systemic abnormalities. Extreme caution should be taken while administering drugs in these patients as they are prone to respiratory depression

  6. PeutzJeghers syndrome: A case report and literature review

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    A Lakhey

    2014-09-01

    Full Text Available Peutz–Jeghers Syndrome is an autosomal dominant inheritedhamartomatous polyp. We present a case of a 5-year-old young boywith a history of per rectal bleeding and mass protruding out of the anus. Physical examination revealed presence of mucocutaneous pigmented lesions over the tongue, and few hamartomatous polyps protruding out of the rectum suggesting Peutz–Jeghers syndrome. The presence in early infancy of small, well-demarcated and dark-brown to blue-black lentigines on the lips,buccal mucosa and perioral skin, should alert the clinician to Peutz–Jeghers Syndrome.DOI: http://dx.doi.org/10.3126/jpn.v4i8.11597 Journal of Pathology of Nepal; Vol.4,No. 8 (2014 677-679

  7. A case of Wolf-Hirschhorn syndrome and hypoplastic left heart syndrome.

    Science.gov (United States)

    von Elten, Kelley; Sawyer, Taylor; Lentz-Kapua, Sarah; Kanis, Adam; Studer, Matthew

    2013-06-01

    Wolf-Hirschhorn Syndrome (WHS) is a genetic syndrome that includes a typical facial appearance, mental retardation, growth delay, seizures, and congenital cardiac defects. A deletion of the terminal band of the short arm of chromosome 4, with a breakpoint at the 4p15 to 4p16 region, is the most common genetic mutation causing WHS. Congenital heart disease associated with WHS typically includes atrial and ventricular septal defects, though there are a few case reports of associated complex congenital heart disease. Here we report a case of an infant with a large 4p deletion, with a breakpoint at the 4p12 region, and hypoplasic left heart syndrome. We discuss a possible link between the size of the chromosomal deletion in WHS and the severity of the cardiac defect.

  8. An Unusual Os Trigonum Syndrome Case Secondary to Car Accident: A Case Report

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    Safer

    2016-03-01

    Full Text Available Introduction The os trigonum syndrome is a common cause of posterior ankle pain, often affecting ballet dancers, soccer players, runners and gymnasts who frequently force the ankle into plantar flexion. In rare cases, onset of the os trigonum syndrome followed an acute injury. Case Presentation A 62-year-old female patient was admitted with load depended ankle pain and swelling, lasting for five years which promptly started after a car accident. We incidentally discovered os trigonum on plain radiography on a lateral view of the right ankle. Conclusions The os trigonum syndrome should take in consideration in elderly subject who had posterior ankle pain starting after a car accident.

  9. A case of nephrotic syndrome associated with hydatiform mole

    Directory of Open Access Journals (Sweden)

    Tarlan Hamidehkhou

    2010-12-01

    Full Text Available The present case study is on a 16-year-old woman who was suffering from nephritic syndrome after recovery from complete type of hydatiform mole. She admitted in hospital because of proteinurea and hematuria. In her past medical history she had a suction curettage for hydatiform mole. After she received 4 courses chemotherapy, she completely recovered and βhCG has fallen from 1980 IU/L to under 10 IU/mL. Then she showed generalized edema, proteinurea and hematuria compatible with nephritic syndrome. After six courses chemotherapy the symptoms of nephrotic syndrome and invasive mole diminished, she released from hospital and scheduled for follow-up.

  10. Cataract surgery in Knobloch syndrome: a case report

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    Bongiovanni CS

    2011-06-01

    Full Text Available Carmen Sílvia Bongiovanni1, Carla Cristina Serra Ferreira1, Ana Paula Silvério Rodrigues1, João Borges Fortes Filho2, Márcia Beatriz Tartarella11Department of Ophthalmology, Congenital Cataract Section, Medical School, Federal University of São Paulo, São Paulo; 2Department of Ophthalmology, Medical School, Federal University of Rio Grande do Sul, Porto Alegre, BrazilAbstract: Knobloch syndrome is an autosomal recessive disorder associated with early-onset ocular abnormalities and central nervous system malformations. Ocular abnormalities are usually severe, and include high myopia, vitreoretinal degeneration, retinal detachment, macular abnormalities, and cataract. The most frequent systemic changes are midline malformations of the brain, ventricular dilation, and occipital encephalocele. Cognitive delay may occur. We report a case of cataract in a child with Knobloch syndrome. Cataract surgery and follow-up are described.Keywords: Knobloch syndrome, cataract, phacoemulsification, vitreous, right eye, left eye, genetic

  11. RHUPUS Syndrome in Children: A Case Series and Literature Review

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    Vahid Ziaee

    2013-01-01

    Full Text Available Objective. Overlap of juvenile idiopathic arthritis (JIA and juvenile systemic lupus erythematosus (JSLE is a rare clinical condition in children. This condition has been described as RHUPUS syndrome. Prevalence of this syndrome and 3 cases are reported in this paper. Cases Presentation. During 10 years, 3 patients with SLE had chronic arthritis before or after diagnosis of SLE. Prevalence of this disorder in JSLE was 2.5%. Two patients were females and one of them was a male. According to our review, mean delay between chronic joint involvement and JSLE diagnosis was 50.1 months. In our case report, two females had joint erosion and one of them died due to heart failure, but in the literature review, just 45% cases had joint erosion and 70% cases were polyarticulare form. Conclusion. RHUPUS is unusual presentation of lupus in children. It seems that clinical feature and outcome of RHUPUS syndrome are different in children due to difference between RA and JIA. We suggest juvenile RHUPUS for overlap of JIA and JSLE.

  12. A Case Report of Sweet's Syndrome with Parotitis

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    Myoung Soo Jo

    2012-01-01

    Full Text Available Sweet's syndrome is characterized by clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions, and a diffuse infiltrate of mature neutrophils. This is a report of our experience of Sweet's syndrome with parotitis. A 57-year-old man initially presented with tender swelling on the right cheek similar to parotitis. His symptoms relapsed despite the use of an oral antibiotic agent for 3 weeks. He additionally presented with erythematous papules and plaques on the periocular area and dorsum of both hands. Histiopathologic findings on punch biopsy of the right dorsum of the hand showed superficial perivenular histiocytic infiltration without vasculitis. We confirmed this as histiocytoid Sweet's syndrome and used systemic corticosteroid. After initiation of treatment with systemic corticosteroids, there was a prompt recovery from both the dermatosis-releated symptoms and skin lesions. Sweet's syndrome should be considered in patients with therapy-refractory parotitis and unclear infiltrated nodules. We present a confusing case who initially appeared to have parotitis but turned out to have histiocytoid Sweet's syndrome.

  13. Foreign Accent Syndrome Secondary to Medication Withdrawal: A Case Report

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    Michael J. Schuh

    2017-08-01

    Full Text Available Objective: The purpose of this case report is to demonstrate a possible alternative etiology related to dopamine may exist for foreign accent syndrome (FAS. Methods: A 79-year-old, 205 pound, Caucasian woman originally presented to the department of Neurology for treatment and subsequently to the pharmacist pharmacotherapy service for evaluation of bilateral upper extremity tremor of high amplitude but was found to also exhibit FAS. Discussion: This case report contributes to the limited literature regarding foreign accent syndrome and adds to the few case reports of psychogenic origin, as opposed to the majority, which are of neurogenic origin. This also represents the first case that seems related to withdrawal of medication rather than psychotic exacerbation and ranks a six on the Naranjo algorithm. Conclusion: FAS is a rare disorder and little is understood about it. This case presentation also suggests that chronic use of high-dose dopamine and/or anticholinergic agents may alter pathways in the brain, which in this case, may have potentially contributed to the development of FAS. There remain many unanswered questions regarding FAS, but hopefully more clarity may be found as more cases are discovered and published. Conflict of Interest I declare no conflicts of interest or financial interests that the authors or members of their immediate families have in any product or service discussed in the manuscript, including grants (pending or received, employment, gifts, stock holdings or options, honoraria, consultancies, expert testimony, patents and royalties.   Type: Case Study

  14. A Case Report of Sweet’s Syndrome with Parotitis

    Directory of Open Access Journals (Sweden)

    Tae Jung Jang

    2012-01-01

    Full Text Available Sweet’s syndrome is characterized by clinical symptoms, physical features, and pathologicfindings which include fever, neutrophilia, tender erythematous skin lesions, and a diffuseinfiltrate of mature neutrophils. This is a report of our experience of Sweet’s syndrome withparotitis. A 57-year-old man initially presented with tender swelling on the right cheeksimilar to parotitis. His symptoms relapsed despite the use of an oral antibiotic agent for 3weeks. He additionally presented with erythematous papules and plaques on the perioculararea and dorsum of both hands. Histiopathologic findings on punch biopsy of the rightdorsum of the hand showed superficial perivenular histiocytic infiltration without vasculitis.We confirmed this as histiocytoid Sweet’s syndrome and used systemic corticosteroid. Afterinitiation of treatment with systemic corticosteroids, there was a prompt recovery from boththe dermatosis-releated symptoms and skin lesions. Sweet’s syndrome should be consideredin patients with therapy-refractory parotitis and unclear infiltrated nodules. We present aconfusing case who initially appeared to have parotitis but turned out to have histiocytoidSweet’s syndrome.

  15. Another cause of vaccine encephalopathy: a case of Angelman syndrome.

    Science.gov (United States)

    Novy, Jan; Catarino, Claudia B; Chinthapalli, Krishna; Smith, Shelagh M; Clayton-Smith, Jill; Hennekam, Raoul C M; Hammond, Peter; Sisodiya, Sanjay M

    2012-05-01

    Dravet syndrome has been found recently as an important underlying condition in cases of alleged vaccine encephalopathy after pertussis vaccination, where vaccination seemed to have precipitated the occurrence of the disease without modifying the long-term course. We report on a patient diagnosed with Angelman syndrome in her fifth decade, in whom the intellectual disability and epilepsy had been assumed to be caused by a vaccine encephalopathy following smallpox vaccination. Clinical features of Angelman syndrome had faded away. The history of the present patient suggests that genetic conditions other than Dravet syndrome can be associated with an alleged vaccine encephalopathy. A history of vaccine encephalopathy is rare among patients with learning disability and refractory epilepsy (1.4% in our cohort), but it should lead to consideration of a comprehensive genetic work-up if Dravet syndrome is excluded. The early history of the patient, when available, should guide the investigations. Medico-legal aspects are also discussed. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  16. Klippel–trenaunay syndrome: A case report with radiological review

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    Amit T Kharat

    2016-01-01

    Full Text Available Klippel–Trenaunay Syndrome is a congenital disorder with a rare incidence of 3-5/1,00,000. It is characterized by a triad of capillary malformation (hemangioma or port-wine stain, venous varicosities, and bony or, soft-tissue hypertrophy. The malformation in the capillary is usually limited to a single extremity though multiple extremities can be involved. This disease is subject to significant morbidities such as bleeding, deep vein thrombosis, and embolic complications. Our case study was a young male of 6 years suffering since birth, from a painful port-wine stain on the lateral aspect of the right thigh, enlarged right femur, and soft tissues. Vascular Doppler ultrasound, skeletal X-ray, and magnetic resonance imaging of the limb indicated a Klippel–Trenaunay disease. This article describes a case study of a child presenting with Klippel–Trenaunay including a review of the syndrome and treatment recommendations.

  17. Waardenburg Syndrome: A Case Study of Two Patients.

    Science.gov (United States)

    Sharma, Karan; Arora, Archana

    2015-09-01

    Waardenburg syndrome is an autosomal dominant disorder with an incidence of 1 in 40,000 that manifests with sensorineural deafness, pigmentation defects of the skin, hair and iris and various defects of neural crest-derived tissues. This genetically heterogeneous disease accounts for >2 % of the congenitally deaf population. Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes can cause Waardenburg syndrome. We here report a case of 12 year old female who presented with chief complaint of decreased hearing in both ears and had clinical features consistent with Waardenburg syndrome. She had a distinct white forelock of hair in the midline along with striking bilateral blue iris. Also a white depigmented patch was present on the right forearm. Both eyes had bright red fundal reflex with choroidal depigmentation. Her younger brother, the second case in this study, had similar blue eyes, white forelock of hair, depigmented skin patch and choroidal depigmentation but with normal hearing. Their father had a history of premature graying of hair. All the primary care physicians coming across a child with blue eyes and white forelock of hair should get the child's hearing tested at the first instance, if not already tested. An early diagnosis and improvement of hearing impairment with timely intervention are the most important for psychological and intellectual development of children with Waardenburg syndrome.

  18. Prenatal diagnosis of Neu-Laxova syndrome: a case report

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    Polat Ibrahim

    2002-02-01

    Full Text Available Abstract Background Neu-Laxova syndrome is a rare congenital abnormality involving multiple systems. We report a case of Neu-Laxova syndrome (NLS diagnosed prenatally by ultrasound examination. Case presentation A 29-year-old gravida 3, para 2 woman was first seen in our antenatal clinic at 38 weeks' pregnancy. Except for the consanguinity and two previous abnormal stillborn babies her medical history was unremarkable. On ultrasound examination microcephaly, flat forehead, micrognathia, intrauterine growth restriction, generalized edema of the skin, hypoplastic chest, excessive soft tissue deposition of hands and feet, joint contractures and a penis without scrotal sacs were detected. She delivered a 2000 g male fetus. He died five minutes after delivery. Postmortem examination confirmed the diagnosis of Neu-Laxova syndrome. Conclusion Because of the autosomal recessive inheritance of Neu-Laxova syndrome genetic counseling and early-serial ultrasound examination should be performed at risk families. Early diagnosis of the disease may offer termination of the pregnancy as an option.

  19. [Reflex sympathetic dystrophy secondary to piriformis syndrome: a case report].

    Science.gov (United States)

    Akçali, Didem; Taş, Ayça; Cizmeci, Pelin; Oktar, Suna; Zinnuroğlu, Murat; Arslan, Emre; Köseoğlu, Hüseyin; Babacan, Avni

    2009-04-01

    Piriformis syndrome is a rare cause of hip and foot pain which may be due to sciatic nerve irritation because of anatomic abnormalities of sciatic nerve and piriformis muscle or herniated disc, facet syndrome, trochanteric bursit, sacroiliac joint dysfunction, endometriosis and other conditions where sciatic nerve is irritated. There has been no reflex sympathetic dystrophy (RSD) case presented due to piriformis syndrome before. A sixty-two-year-old female patient had right foot and hip pain (VNS: 8), redness and swelling in the foot since 15 days. Her history revealed long walks and travelling 3 weeks ago and sitting on the foot for a long time for a couple of days. Physical examination revealed painful hip movement, positive straight leg rise. Erythema and hyperalgesia was present in dorsum of the right foot. Right foot dorsiflexion was weak and hyperesthesia was found in right L4-5 dermatome. Medical treatment and ultrasound treatment to piriformis muscle was not effective. The patient was injected 40 mg triamcinolon and local anesthetic in right piriformis muscle under floroscopy by diagnosis of piriformis syndrome, neuropathic pain and RSD. Pain and hyperalgesia resolved and motor weakness was better. During follow-up right foot redness resolved and pain decreased (VNS: 1). In this case report, there was vascular, muscle and skeletal signs supporting RSD, which shows us the therapoetic effect of diagnostic piriformis injection. The patient history, physical examination and diagnostic tests were evaluated by a multidisciplinary team which contributed to the treatment.

  20. A challenging case of gastric outlet obstruction (Bouveret's syndrome: a case report

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    Gelrud Andres

    2011-10-01

    Full Text Available Abstract Introduction Bouveret's syndrome is a clinically distinct form of gallstone ileus caused by the formation of a fistula between the biliary tract and duodenum. This case reinforces the need for early recognition and treatment of Bouveret's syndrome, as it is associated with high morbidity and mortality rates. Case presentation An 82-year-old Caucasian woman presented with signs and symptoms of small bowel obstruction. Her laboratory workup showed elevated alkaline phosphatase and amylase levels. Computed tomography of her abdomen revealed pneumobilia, a choledochoduodenal fistula and a gallstone obstructing her distal duodenum. The impacted gallstone could not be extracted endoscopically, so our patient underwent open enterolithotomy successfully. However, the postoperative course was complicated by myocardial infarction, respiratory failure and disseminated intravascular coagulation. She died 22 days after surgery, secondary to cardiopulmonary arrest. Conclusion This case clearly highlights the considerable morbidity and mortality associated with Bouveret's syndrome.

  1. Prune-Belly Syndrome: A Case Report from Rwanda | Ngendahayo ...

    African Journals Online (AJOL)

    Background: Prune-Belly syndrome, Eagle-Barret syndrome and triad syndrome, all refer to congenital anomalies involving abdominal musculature, urinary tract and testicles. The syndrome consists of a triad of abdominal muscle aplasia, massive ureteral and bladder dilatation and cryptorchidism. Kidneys are often affected ...

  2. [A case of Prune Belly Syndrome. Prenatal diagnosis].

    Science.gov (United States)

    Montoya, S; Palomo Góngora, E; García, V

    1995-09-01

    Prune Belly Syndrome is a rare and complicated condition affecting the genitourinary organs and abdominal wall, it was named after the aspect of the abdomen after the bladder has been drained. In its fully developed form presents with the triad: megalocyst, abdominal muscle deficiency and cryptorchidism. We present a case of a patient with 22 weeks of gestation with ultrasonographic diagnosis of a large thoracoabdominal cyst. The delivery was by cesarean operation. We analyzed the literature.

  3. Menkes syndrome: report of a case and review

    International Nuclear Information System (INIS)

    Sancho, B.; Villanua, J.A.; Almeida, M.; Olondo, M.L.; Nogues, A.; Recondo, J.A.

    1995-01-01

    Menkes' syndrome is a complex disorder of the copper metabolism that is transmitted as a X-linked recessive trait. Among the clinical signs are progressive psycho motor retardation, myoclonic seizures and kinky hair. We present a new case of this disease, describing the most characteristics radiological findings, especially the symmetrical skeletal changes, marked neuro degenerative changes and vascular changes (arterial elongation and tortuosity). The laboratory tests for the definitive diagnosis showed a decrease in the plasma copper and ceruloplasmin levels. 16 refs

  4. A Case Report of Fragile X Syndrome with Fingers Anomaly

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    F. Ashrafzadeh

    2003-04-01

    Full Text Available Fragile X Syndrome, the most common cause of inherited mental retardation, results from mutation in fragile X mental retardation gene (FMR1 on long arm of X chromosome, Xq27.3. Clinical features include moderate to severe mental retardation without neurologic deficit, long face, large ears, prominent jaw, macro-orchidism, attention deficit, behavior disorder and occasionally autistic behavior . Hyperextensible joints may also be seen in these patients. There is no other congenital malformation in fragile X syndrome. In this article we presented a 6 years old boy with fragile X syndrome who in addition to his characteristic clinical features had large thumbs and toes, which was disproportionate in size to his thumb nails and toe nails. In a case report from division of medical Genetics, Newyork Hospital in Cornell University, a twin brothers with fragile X syndrome also had cleft palate and ventricular septal defect . The diagnosis of this case was performed by culturing the patient’s peripheral blood lymphocytes in media lacking folate which expose the fragile X sites. The chromosomal analysis was performed using G-banding.

  5. Anthracyclines and Acquired Long QT Syndrome. A Case Report

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    Carlos Rodríguez Armada

    2014-12-01

    Full Text Available Acquired long QT syndrome results from secondary causes and can be caused by more than 100 non-antiarrhythmic drugs. Cardiac arrest due to Torsades de pointes induced by drugs causing prolonged QT syndrome is a rare but potentially fatal event, even in hospitals. The case of a 47-year-old patient diagnosed with non-Hodgkin lymphoma admitted to the hematology department of the Dr. Gustavo Aldereguía Lima University General Hospital in Cienfuegos is presented. The patient had been previously treated with anthracyclines and developed episodes of palpitations and syncope later. The treatment included monitoring the patient, avoiding other QT prolonging agents and administrating magnesium sulfate and potassium chloride with a proper maintenance of the fluid and acid-base balance. The presentation of this case aims at motivating interest in new reports on the subject and establishing a direct causal relationship through the evidence provided by new experiences.

  6. Eagle’s syndrome - a report of two cases

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    Kiralj Aleksandar

    2015-01-01

    Full Text Available Introduction. Eagle’s syndrome is defined as elongation of the styloid process or the stylohyoid ligament mineralization complex which consist of styloid process, stylohyoid ligament and lesser horn of hyoid bone. It is a rare entity, is not commonly suspected in clinical practice. It is characterized by recurrent facial and throat pain, dysphagia, odynophagia, parapharingeal foreign body sensation, otalgia and neck pain. Eagle’ş syndrome can be treated conservatively (lacing local anesthetic into the styloid process and stylomandibular ligament attachment or surgically. Its pathogenesis and threatment modalities are still being debated while different theories have been presented. Case report. The two traditional surgical approaches to styloidectomy (removal of the elongated portion of the styloid process were presented the intraoral approach and the extraoral approach. We presented two cases (49 years and 34 years old males, with bilateral and unilateral elongated styloid process. The surgical treatment included unilateral right side stiloidectomy by intraoral approach in the first case and right styloidectomy by extraoral approach in the second case. In both eases post-operative course passed regularly with no complaints at regular postoperative control. Conclusion. Surgical techniques for treatment of Eagle’s syndrome have many advantages and disadvantages. We believe that the length of the styloid process or the calcified ligament is a decisive parameter for the selection of techniques and approach.

  7. Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome

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    Irene Berges-Raso

    2017-09-01

    Full Text Available Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropin-releasing hormone deficiency and characterized by anosmia or hyposmia due to hypoplasia of the olfactory bulbs; osteoporosis and metabolic syndrome can develop due to longstanding untreated hypogonadism. Kallmann syndrome affects 1 in 10 000 men and 1 in 50 000 women. Defects in 17 genes, including KAL1, have been implicated. Kallmann syndrome can be associated with X-linked ichthyosis, a skin disorder characterized by early onset dark, dry, irregular scales affecting the limb and trunk, caused by a defect of the steroid sulfatase gene (STS. Both KAL1 and STS are located in the Xp22.3 region; therefore, deletions in this region cause a contiguous gene syndrome. We report the case of a 32-year-old man with ichthyosis referred for evaluation of excessive height (2.07 m and weight (BMI: 29.6 kg/m2, microgenitalia and absence of secondary sex characteristics. We diagnosed Kallmann syndrome with ichthyosis due to a deletion in Xp22.3, a rare phenomenon.

  8. Guillain Barre Syndrome Following Traumatic Brain Injury: A Rare Case

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    Kirac Unal

    2016-06-01

    Full Text Available Introduction Guillain-Barre syndrome (GBS is an immune-mediated acute inflammatory disorder of the peripheral nervous system. Infectious agents were usually accused of playing a role in the etiology of GBS. Guillain-Barre syndrome has rarely been reported following subdural and subarachnoid hemorrhage after head trauma. Case Presentation We report on a 63-year-old male patient presenting GBS following Traumatic Brain Injury (TBI. Only five other similar cases are described in the literature. Conclusions Sudden onset of GBS symptoms following trauma may erroneously be assessed as secondary complications of the TBI and can lead to unnecessary procedures such as computerized tomography (CT scan and magnetic resonance imaging (MRI for a definitive diagnosis and may be a waste of time.

  9. A Case of Capgras Syndrome Related to Hypothyroidism.

    Science.gov (United States)

    Hines, Aisha; Stewart, Jonathan T; Catalano, Glenn

    2015-11-01

    Hypothyroidism is commonly associated with a variety of psychiatric conditions, most commonly depression and cognitive impairment, but up to 5% to 15% of symptomatically hypothyroid patients may develop a nonaffective psychosis, classically referred to as "myxedema madness." We report the case of a woman who developed Capgras syndrome in the context of hypothyroidism, and whose psychosis rapidly resolved with levothyroxine supplementation. To date, very few cases of Capgras syndrome related to hypothyroidism have been reported. The pathophysiology of this condition remains unclear but it may be related to global cerebral hypometabolism or possibly to increased cerebral dopamine. Given the robust response of "myxedema madness" to thyroid replacement, psychiatrists should remain vigilant for covert hypothyroidism in patients with psychosis and atypical histories or presentations.

  10. Partial prune belly syndrome: A rare case report

    OpenAIRE

    Aditya Pratap Singh; Vinay Mathur; Ramesh Tanger; Arun Kumar Gupta

    2017-01-01

    Prune belly syndrome (PBS) is characterized by deficient development of abdominal muscles that causes the skin of the abdomen to wrinkle like a prune, bilateral cryptorchidism, abnormalities of the urinary tract. The etiology of PBS is unclear and possible familial genetic inheritance was reported in some of the studies. We are presenting here a case with the absence of the muscle in the right side of the abdomen as hernia, thinning of the muscle on left side with bilateral cryptorchidism, an...

  11. Oro-facial-digital syndrome Type 1: A case report

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    Kanika Singh Dhull

    2014-01-01

    Full Text Available Oro-Facial Digital Syndrome (OFDS is a generic term for group of apparently distinctive genetic diseases that affect the development of the oral cavity, facial features, and digits. One of these is OFDS type I (OFDS-I which has rarely been reported in Asian countries. This is the case report of a 13 year old patient with OFDS type I who reported to the Department of Pedodontics and Preventive Dentistry, with the complaint of discolored upper front teeth.

  12. Balanitis in Down syndrome-A case from Malaysia

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    Ching Siew Mooi

    2012-03-01

    Full Text Available This case illustrates the management by a primary care physician of a child with Down syndrome who had recurrentbalanitis. Various methods of management were tried. Eventually it was just by practicing proper genitalia hygieneand using the sitz bath, that actually produce success in settling the recurrent balanitis. The use of sitz bath providesan alternative in the management of balanitis will be described here.

  13. Morquio syndrome. Case report

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    Ivonne Alejandra Meza

    2010-03-01

    Full Text Available We present a case of a Morquio syndrome, it is a disease transmitted by inheritance autosomic recessive, is systemic disease, mainly affects cartilage, clinically there is deficiency of Galactose-6-sulfatase and beta-galactosidase enzymes, clinically is observed disharmonic growth of bones and coarse fascies.

  14. Morquio syndrome. Case report

    OpenAIRE

    Ivonne Alejandra Meza; Jaime Álvarez-Soler

    2010-01-01

    We present a case of a Morquio syndrome, it is a disease transmitted by inheritance autosomic recessive, is systemic disease, mainly affects cartilage, clinically there is deficiency of Galactose-6-sulfatase and beta-galactosidase enzymes, clinically is observed disharmonic growth of bones and coarse fascies.

  15. Mayer–Rokitansky–Kuster–Hauser syndrome: Syndrome of Mullerian agenesis – A report of two cases

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    Sushma Yalavarthi

    2017-01-01

    Full Text Available The Mayer–Rokitansky–Kuster–Hauser syndrome (MRKH syndrome, simply called Rokitansky syndrome or vaginal aplasia of the uterus, is a congenital condition that is characterized by the absence of the uterus and vagina, but ovaries are present and the external genitalia are normal. It affects at least 1 out of 4500 women. MRKH may be isolated (Type I, but it is more frequently associated with renal, vertebral, and to a lesser extent, auditory and cardiac defects (MRKH Type II or Mullerian duct aplasia, Renal dysplasia, and Cervical Somite anomalies association - mullerian duct aplasia, renal dysplasia, and cervical somite anomalies. There were very few cases of MRKH syndrome reported in the literature. Here, we report two cases of MRKH syndrome, one in a 20-year-old woman who presented with primary amenorrhea (MRKH Type I and the other in a 65-year-old woman with primary amenorrhea and associated renal malformations and a rare ovarian sertoliform variant of endometrioid tumor (MRKH Type II.

  16. Trisomy 4p syndrome: A case report with review

    Energy Technology Data Exchange (ETDEWEB)

    Patel, S.V.; Dagnew, H.; Parekh, A.J. [Long Island College Hospital, Brooklyn, NY (United States)] [and others

    1994-09-01

    We present a case with trisomy of the short arm of chromosome 4, i.e., 46,XX,der(22)t(4;22)(p12;11.2). The most notable clinical findings included: prominent forehead, hypertelorism, small, bulbous nose with depressed and broad bridge, low hairline, retrognathia, notched auricular helix, rocker-bottom feet with prominent heel, arachnodactyly and comptodactyly. An additional, unique finding in our case is the presence of 13 ribs. In the past, the precise characterization of cases with trisomy for the 4p segment has been difficult by routine cytogenetic techniques because the bands involved in this abnormality are quite variable. We used the FISH technique, applying a battery of probes to delineate the genomic morbidity at the molecular level. In our case, the entire short arm is in the trisomic state, yet it could not be identified as a distinct syndrome prior to cytogenetic evaluation. The phenotypic spectrum associated with this gross chromosomal abnormality has been the subject of debate and scrutiny. We provided a comprehensive review of 64 cases and it is concluded that the clinical manifestations of the pure trisomy 4p syndrome are associated with trisomy of the distal two thirds to the entire p arm and that the additional material does not cause a more severe phenotype. Therefore, the molecular characterization of the short arm of chromosome 4 (4p) may be imperative in order to correlate the clinical expression with chromosome bands and ultimately with specific gene(s) in future cases.

  17. Treatment of fabella syndrome with manual therapy: a case report.

    Science.gov (United States)

    Zipple, J Tim; Hammer, Roger L; Loubert, Peter V

    2003-01-01

    Clinical case report. To educate clinicians about fabella syndrome as a possible cause for posterolateral knee pain and dysfunction. Also to describe a physical therapy intervention strategy for posterolateral knee pain secondary to hypomobility or malposition of a fabella. A 44-year-old, physically fit, Caucasian male with a 10-year history of left posterolateral knee pain and functional limitations during athletic activities, walking, and activities of daily living presented for evaluation and treatment. He had previously experienced relief of symptoms after experimenting with a mechanical maneuver administered by his wife. A thorough examination for strength, range of motion, and accessory motions was performed. A fabella was palpable in the lateral head of the gastrocnemius muscle and a provisional diagnosis of fabella syndrome was made. While in a prone position, the patient received soft tissue mobilization of the lateral gastrocnemius, followed by medial, lateral, and inferior glides of the fabella. The patient reported an immediate reduction in posterolateral knee pain and demonstrated a 30 degrees increase in active knee flexion. Physical therapists may be unaware that fabella syndrome is a possible source of posterolateral knee pain and dysfunction. This simple manual therapy intervention was effective in reducing symptoms of pain and increasing tolerance for activities involving knee flexion, extension, and rotation. Physical therapists may wish to add this diagnosis and the corresponding examination and intervention techniques to their management strategy for patients with fabella syndrome.

  18. [Psychosis Associated With Fahr's Syndrome: A Case Report].

    Science.gov (United States)

    Cassiani-Miranda, Carlos Arturo; Herazo-Bustos, Mariana; Cabrera-González, Armando; Cadena-Ramos, Ivan; Barrios-Ayola, Francisco

    2015-01-01

    Fahr syndrome (SF) is a rare neurological disorder, characterized by abnormal deposition of calcium in brain areas that control movement. The case is presented of a 41-year-old female with a convulsive syndrome, psychotic disorder, neurocognitive disorde,r and intellectual disability associated with bilateral brain calcifications and altered calcium/phosphorus metabolism in the context of hypoparathyroidism. Case report. The calcifications found in the patient could be the cause of psychotic symptoms and cognitive impairment. Diagnostic imaging, laboratory tests, psychiatric and neuropsychological assessments are presented. The clinical presentation of this case is compared with similar ones reported in the literature. Therapeutic approaches and clinical outcomes are described. Fahr's syndrome should be suspected in patients with neuropsychiatric disorders and seizures. Neuroimaging studies, and the determining of phosphorus and calcium metabolism and parathyroid hormone levels are important in this type of patient. Copyright © 2015 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

  19. Post-surgical sacroiliac syndrome: a case study

    OpenAIRE

    Diakow, Peter R.P.; Cassidy, J. David; DeKorompay, Victor L.

    1983-01-01

    Sacroiliac syndrome is characterized by buttock and lower limb pain that is associated with decreased mobility and tenderness of the sacroiliac joints. It can occur concomitantly with disorders of the lumbar spine and may go unrecognized until these other conditions are successfully treated. It may sometimes be associated with post-surgical immobilization of the spine and pelvis. A case is presented illustrating successful treatment by chiropractic manipulation.

  20. [Catastrophic antiphospholipid syndrome complicated by cardiogenic shock - a case report].

    Science.gov (United States)

    Zieba, Bozena; Wegrzyn, Agnieszka; Mital, Andrzej; Szczepińska-Nowak, Maria; Lewicki, Lukasz; Chmielecki, Michał; Puchalski, Wiesław; Rynkiewicz, Andrzej

    2009-07-01

    A case of a 29-year-old woman 18 days after delivery with catastrophic antiphospholipid syndrome secondary (CAPS) due to undiagnosed systemic lupus erythematosus, leading to cardiogenic shock is reported. Laboratory evaluation revealed increased anticardiolipin antibodies, lupus anticoagulant, antinuclear antibody and thrombocytopenia. Left ventricular ejection fraction was 20%, neurologic deficit and acute renal failure were also present. Cardiac involvement is common in CAPS, but cardiomyopathy due to microvascular thrombosis is rare. CAPS should be considered as a cause of acute heart failure in a women with systemic lupus erythematosus. In the presented case early therapy with anticoagulants, steroids, immunoglobulins and plasmaferesis was beneficial.

  1. Prune belly syndrome: A report of 15 cases from Sudan.

    Science.gov (United States)

    Kheir, Abdelmoneim E M; Ali, Eltigani M A; Medani, Safaa A; Maaty, Huda S

    2017-01-01

    Prune belly syndrome is a rare congenital malformation of unknown aetiology, composed of a triad of deficient abdominal wall muscle, cryptorchidism and urinary tract anomalies. The majority of patients have associated pulmonary, skeletal, cardiac, and gastrointestinal defects. This was a prospective, case finding study that was conducted in the main paediatric hospitals in Khartoum state, during the period December 2015 to September 2016. A total of 15 patients with prune belly syndrome were collected. Patients' characteristics were noted including socio-demographic data, laboratory and radiological investigations and any medical or surgical intervention. There were 12 males and 3 females with a male to female ratio of 4:1. Most of the patients (80%) had hydronephrosis and hydroureter. The study revealed that 60% of the patients had associated anomalies, there were 4 (26.6%) with cardiac defects, 3 (20%) with orthopaedic defects one patient with small bowel volvulus and one patient with cleft lip. 6 (40%) patients received medical intervention and 8 (53%) patients underwent surgical procedures. At the last follow up visit, 2 (13.4%) patients had normal renal function tests, 8 (53.3%) ended with chronic kidney disease, and 5 died with a mortality rate of 33.3%. Prune belly syndrome is a rare entity with wide variability in severity and clinical manifestations. The mortality in prune belly syndrome remains high despite medical and surgical interventions.

  2. Compartment syndrome after total knee arthroplasty: regarding a clinical case

    Directory of Open Access Journals (Sweden)

    Ana Alexandra da Costa Pinheiro

    2015-08-01

    Full Text Available ABSTRACT Although compartment syndrome is a rare complication of total knee arthroplasty, it is one of the most devastating complications. It is defined as a situation of increased pressure within a closed osteofascial space that impairs the circulation and the functioning of the tissues inside this space, thereby leading to ischemia and tissue dysfunction. Here, a clinical case of a patient who was followed up in orthopedic outpatient consultations due to right gonarthrosis is presented. The patient had a history of arthroscopic meniscectomy and presented knee flexion of 10° before the operation, which consisted of total arthroplasty of the right knee. The operation seemed to be free from intercurrences, but the patient evolved with compartment syndrome of the ipsilateral leg after the operation. Since compartment syndrome is a true surgical emergency, early recognition and treatment of this condition through fasciotomy is crucial in order to avoid amputation, limb dysfunction, kidney failure and death. However, it may be difficult to make the diagnosis and cases may not be recognized if the cause of compartment syndrome is unusual or if the patient is under epidural analgesia and/or peripheral nerve block, which thus camouflages the main warning sign, i.e. disproportional pain. In addition, edema of the limb that underwent the intervention is common after total knee arthroplasty operations. This study presents a review of the literature and signals that the possible rarity of cases is probably due to failure to recognize this condition in a timely manner and to placing these patients in other diagnostic groups that are less likely, such as neuropraxia caused by using a tourniquet or peripheral nerve injury.

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

    Directory of Open Access Journals (Sweden)

    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.

  4. Os acromiale causing shoulder impingement syndrome: a case report

    International Nuclear Information System (INIS)

    Romero, I.; Rodriguez, A.; Roca, M.; Garcia, Y.

    2001-01-01

    Shoulder impingement syndrome is caused by repeated mechanical trauma to the rotator cuff due to encroachment of the coracoacromial ligament; in most cases, it is a primary lesion. Os acromiale, an anatomic variant of the shoulder structures, is one of the predisposing factors for the development of this entity. We present a case of os acromiale complicated by complete rupture of the tendon of the supraspinatus muscle and luxation of the long head of the biceps tendon. We stress the importance of magnetic resonance in the study of this anatomic variant and in the detection of complications or associated lesions. (Author) 10 refs

  5. A Case of Postpartum HELLP Syndrome

    LENUS (Irish Health Repository)

    Langhe, R

    2017-11-01

    A 37-year-old primigravida was referred from the antenatal clinic with a provisional diagnosis of pre-eclampsia in view of severe frontal headache, high blood pressure and proteinuria. There was no history of visual disturbance or epigastric pain. The woman was at 30 weeks gestation.

  6. Sturge-Weber syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Mukhopadhyay S

    2008-05-01

    Full Text Available A 6½ year-old female child has been described. The condition is characterized by port wine stains in the body, massive gingival overgrowth, history of convulsive disorder, and dilated ocular vessels.

  7. Fatal atypical reversible posterior leukoencephalopathy syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Golombeck Stefanie Kristin

    2013-01-01

    Full Text Available Abstract Introduction Reversible posterior leukoencephalopathy syndromea reversible subacute global encephalopathy clinically presenting with headache, altered mental status, visual symptoms such as hemianopsia or cortical blindness, motor symptoms, and focal or generalized seizures – is characterized by a subcortical vasogenic edema symmetrically affecting posterior brain regions. Complete reversibility of both clinical signs and magnetic resonance imaging lesions is regarded as a defining feature of reversible posterior leukoencephalopathy syndrome. Reversible posterior leukoencephalopathy syndrome is almost exclusively seen in the setting of a predisposing clinical condition, such as pre-eclampsia, systemic infections, sepsis and shock, certain autoimmune diseases, various malignancies and cytotoxic chemotherapy, transplantation and concomitant immunosuppression (especially with calcineurin inhibitors as well as episodes of abrupt hypertension. We describe for the first time clinical, radiological and histological findings in a case of reversible posterior leukoencephalopathy syndrome with an irreversible and fatal outcome occurring in the absence of any of the known predisposing clinical conditions except for a hypertensive episode. Case presentation A 58-year-old Caucasian woman presented with a two-week history of subacute and progressive occipital headache, blurred vision and imbalance of gait and with no evidence for raised arterial blood pressure during the two weeks previous to admission. Her past medical history was unremarkable except for controlled arterial hypertension. Cerebral magnetic resonance imaging demonstrated cortical and subcortical lesions with combined vasogenic and cytotoxic edema atypical for both venous congestion and arterial infarction. Routine laboratory and cerebrospinal fluid parameters were normal. The diagnosis of reversible posterior leukoencephalopathy syndrome was established. Within hours after

  8. Moebius-Poland syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Mostapha Ahmad

    2012-01-01

    Full Text Available El síndrome de Moebius es una sintomatología poco frecuente en la que los pares craneales sexto y séptimo están involucrados. Esta implicación resulta en parálisis facial. Se han descrito unos 500 casos en la literatura médica mundial y algunos de ellos han recibido tratamiento quirúrgico. Además el síndrome ha recibido otros nombres, tales como aplasia congénita nuclear, aplasia nuclear infantil, parálisis congénita oculofacial y diplejía facial. El síndrome de Poland es otra anomalía congénita muy poco frecuente de la pared torácica, caracterizado por ausencia unilateral parcial o total del músculo pectoral mayor y braquisindactilia ipsilateral. Sin embargo, el síndrome de Moebius-Poland es más raro, ya que el primer caso fue reportado recientemente en el año 2007 por Diego López de Lara et al. En este artículo se presentará este caso poco frecuente, que es una combinación entre ambos síndromes Moebius y Poland en un paciente masculino de tres meses de edad.

  9. Anorexia nervosa and Wernicke-Korsakoff syndrome: a case report.

    Science.gov (United States)

    Saad, Laura; Silva, Luiz Fal; Banzato, Claudio Em; Dantas, Clarissa R; Garcia, Celso

    2010-07-20

    Wernicke's encephalopathy is an acute, potentially fatal, neuropsychiatric syndrome resulting from thiamine deficiency. The disorder is still greatly under-diagnosed, and failure to promptly identify and adequately treat the condition can lead to death or to the chronic form of the encephalopathy - Korsakoff's syndrome. Wernicke's encephalopathy has traditionally been associated with alcoholism but, in recent years, there has been an increase in the number of clinical settings in which the disorder is observed. We report the case of a 45-year-old Caucasian woman who arrived at the emergency room presenting signs of marked malnutrition and mental confusion, ataxic gait and ophthalmoplegia. Main laboratory test findings included low serum magnesium and megaloblastic anemia. Brain magnetic resonance imaging revealed increased T2 signal in the supratentorial paraventricular region, the medial regions of the thalamus and the central and periaqueductal midbrain. The diagnosis of Wernicke's encephalopathy was made at once and immediate reposition of thiamine and magnesium was started. The patient had a long history of recurrent thoughts of being overweight, severe self-imposed diet restrictions and self-induced vomiting. She had also been drinking gin on a daily basis for the last eight years. One day after admittance the acute global confusional state resolved, but she presented severe memory deficits and confabulation. After six months of outpatient follow-up, memory deficits remained unaltered. In this case, self-imposed long-lasting nutritional deprivation is thought to be the main cause of thiamine deficiency and subsequent encephalopathy, but adjunct factors, such as magnesium depletion and chronic alcohol misuse, might have played an important role, especially in the development of Korsakoff's syndrome. The co-morbidity between eating disorders and substance abuse disorders has emerged as a significant health issue for women, and the subgroup of patients with

  10. GORLIN-GOLTZ SYNDROME: A CASE REPORT

    OpenAIRE

    Domingues, S.; Pereira, S.; Machado, A.; Bezerra, R.; Figueira, F.; Cunha, B.; Machado, L.

    2014-01-01

    Introdução: O Síndrome de Gorlin-Goltz é uma condição hereditária autossómica dominante rara caracterizada por: carcinomas basocelulares, queratoquistos odontogénicos, depressões palmo-plantares, calcificações da foice cerebral e malformações esqueléticas. Associa-se também a meduloblastoma e outras neoplasias. Caso Clínico: Adolescente de 11 anos, com antecedentes de macrocefalia. Referenciada à consulta de estomatologia por quistos mandibulares recidivantes. O exame anátomo-patológico r...

  11. A case of Werner's syndrome associated with osteosarcoma.

    Science.gov (United States)

    Murata, K; Hatamochi, A; Shinkai, H; Ishikawa, Y; Kawaguchi, N; Goto, M

    1999-10-01

    We described a case of Werner's syndrome associated with osteosarcoma. A 37-year-old Japanese man was diagnosed as having Werner's syndrome by the presence of juvenile cataracts, skin sclerosis and hyperpigmentation of the feet, high-pitched voice, characteristic bird-like appearance of the face with beak-shaped nose, thinning of the entire skin and hyperkeratoses on soles, hyperlipemia, hyperuricemia, diabetes melitus, and the mutated responsible gene (WRN). He had a 3-month history of a tumor on his left forearm. Histologically, the tumor included four histological patterns; a malignant fibrous histiocytoma-like, a desmoid-like, a dermatofibrosarcoma protuberans-like, and a chondrosarcoma-like pattern. Tumoral osteoid formation was also found in the tumor. Therefore, the tumor was diagnosed as osteosarcoma.

  12. [Acute Stress and Broken Heart Syndrome. A Case Report].

    Science.gov (United States)

    Vergel, Juliana; Tamayo-Orozco, Sebastián; Vallejo-Gómez, Andrés Felipe; Posada, María Teresa; Restrepo, Diana

    Stress has been associated with an acute heart failure syndrome of important morbidity and mortality. Case report and non-systematic review of the relevant literature. A 65-year-old woman with a history of an untreated generalized anxiety disorder, whom after the violent death of her son presented with oppressive chest pain irradiated to neck and left superior extremity, lasting for more than 30minutes, initial clinical suspect suggests acute coronary syndrome. Tako-tsubo cardiomyopathy is characterized by a reversible left ventricular dysfunction and wall movement abnormalities, without any compromise of the coronary arteries, associated to high plasma levels of catecholamines which in most cases correlates with an acute stress of emotional or physical type. Tako-tsubo cardiomyopathy has to be considered by physicians among the differential diagnosis when facing a patient with suspected acute coronary syndrome, especially in post-menopausal women with a history of psychiatric comorbidities such as a generalized anxiety disorder. Copyright © 2016 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

  13. Griscelli syndrome: A case report of Reye′s syndrome and atopic dermatitis history

    Directory of Open Access Journals (Sweden)

    Kirzioglu Z

    2008-12-01

    Full Text Available Griscelli syndrome (GS is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and the hair (silver hair, with the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. Sixty cases of GS have been reported in the literature, but we could find no description of its oro-dental symptoms. Reye′s syndrome (RS is characterized by acute noninflammatory encephalopathy and renal and hepatic failure, while atopic dermatitis (AD is a skin disorder with an immunologic basis. The aim of this paper is to describe the oro-dental and physical findings in a girl who had been diagnosed with GS at 3.5 years of age; she also had AD as well as a history of RS at infancy. We discuss the possible relationship between the three syndromes.

  14. Cytomegalovirus infection can mimic genetic nephrotic syndrome: a case report.

    Science.gov (United States)

    Hogan, Julien; Fila, Marc; Baudouin, Véronique; Peuchmaur, Michel; Deschênes, Georges; Niel, Olivier

    2015-09-22

    Nephrotic syndrome is a relatively rare but serious condition in children. Infantile nephrotic syndrome often has a genetic origin; the treatment is then symptomatic, with a poor prognosis, and a rapid evolution to chronic kidney disease. However, non-genetic infantile nephrotic syndrome has been identified. Here we report for the first time in a child a nephrotic syndrome as the sole clinical expression of a cytomegalovirus infection. The patient was 5 months old when he presented with a nephrotic syndrome. An exhaustive genetic testing was conducted and came back negative. A viral work-up only showed a positive cytomegalovirus PCR. Antiviral treatment lead to a complete remission of the nephrotic syndrome, with no requirement for steroid therapy. Renal function remained normal throughout follow-up. Nephrotic syndrome should always be carefully investigated in children. This observation reinforces the connection between viral infections and pediatric nephrotic syndrome, sparking more controversy about an infectious origin to childhood nephrotic disease.

  15. Schiff-Sherrington syndrome in a horse - Case report

    Directory of Open Access Journals (Sweden)

    Cibele Lima Lhamas

    2015-06-01

    Full Text Available ABSTRACT. Lhamas C.L., Anjos B.L., Pfingstag K.G., Quevedo L.S. & Duarte C.A. [Schiff-Sherrington syndrome in a horse - Case report.] Síndrome de Schiff-Sherrington em equino - Relato de caso. Revista Brasileira de Medicina Veterinária, 37(2:163-166, 2015. Curso de Pós-Graduação em Ciência Animal, Universidade Federal do Pampa, Campus Uruguaiana, BR 472, Km 585, Uruguaiana, RS 97500-970, Brasil. E-mail: claudiaduarte@unipampa.edu.br Schiff-Sherrington syndrome clinically corresponds to a manifestation of rigidity extensor or hypertonia of the forelimb and hypotonic paralysis of the hind limbs. It is a common condition in dogs, however, rarely described in large animals. It can be caused by trauma and spinal cord compression conditions. The aim of this study was to describe the case of a two-year-old male horse with Schiff-Sherrington syndrome. The animal was sent with signs of paresis and ataxia of the hind limbs, and during the necropsy, multiple fractures were observed in the 1st and 2nd lumbar vertebrae and spinal cord compression.

  16. Therapeutic approach to Gradenigo's syndrome: a case report

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    Aspris Andreas

    2010-05-01

    Full Text Available Abstract Introduction Traditional management of Gradenigo's syndrome requires aggressive and radical surgery without any attempt to preserve hearing. Recent reports, however, describe a successful outcome after conservative surgical intervention without labyrinthectomy. A similar outcome has also been reported in patients who were only prescribed with antibiotics and did not undergo myringotomy. Case presentation We report the case of a 24-year-old Caucasian Greek woman with Gradenigo's syndrome who was treated by draining her petrous apex via an infralabyrithine approach between her posterior semicircular canal and the jugular bulb. Her inner ear was not sacrificed during the procedure. She presented pre-operatively with ipsilateral conductive hearing loss, which recovered completely four weeks after the surgery. Conclusions Patients with Gradenigo's syndrome may be successfully treated with a combination of long-term permanent drainage and ventilation of the apical cells with corresponding hearing preservation. This can be achieved via a combination of transmastoid, infralabyrinthine and suprajugular approaches, if such would be allowed by the anatomy of the region or if there is enough space between the posterior semicircular canal and the jugular bulb.

  17. [Pearson syndrome. Case report].

    Science.gov (United States)

    Cammarata-Scalisi, Francisco; López-Gallardo, Ester; Emperador, Sonia; Ruiz-Pesini, Eduardo; Da Silva, Gloria; Camacho, Nolis; Montoya, Julio

    2011-09-01

    Among the etiologies of anemia in the infancy, the mitochondrial cytopathies are infrequent. Pearson syndrome is diagnosed principally during the initial stages of life and it is characterized by refractory sideroblastic anemia with vacuolization of marrow progenitor cells, exocrine pancreatic dysfunction and variable neurologic, hepatic, renal and endocrine failures. We report the case of a 14 month-old girl evaluated by a multicentric study, with clinic and molecular diagnosis of Pearson syndrome, with the 4,977-base pair common deletion of mitochondrial DNA. This entity has been associated to diverse phenotypes within the broad clinical spectrum of mitochondrial disease.

  18. [Syndrome X and surgical stress. A clinical case].

    Science.gov (United States)

    Parlapiano, C; Barletta, C; Cervellini, P; D'Angelo, P; Baccarini, S; Scavo, D

    1993-02-01

    The syndrome X is a clinical disease characterised by anginous pain with the absence of significant and angiographically visible stenosis of the coronary tree. D. P. M., a 61-year-old woman suffering from biliary lithiasis, underwent cholecystectomy. During the immediate postoperative period, the patient showed difficulty in regaining consciousness and there were electrocardiographic signs of extensive anterior ischemia; prior to the operation only a 1st degree atrio-ventricular block and a positive history of occasional precordial pain had been reported. On the 2nd postoperative day the patient complained of violent retrosternal pain irradiated to the left shoulder. Given that the signs of ischemia had regressed, various instrumental tests were performed: echocardiogram, cycloergometric test, dipyridamole test, cold pressure test, Holter's dynamic ECG, all of which were within the normal; moreover, selective coronarography did not reveal significant stenosis of the coronary tree. The patient was therefore diagnosed as suffering from syndrome X. In the light of the present case, the authors conclusion may be summarised as follows: the diagnosis of syndrome X, which is by definition not easy, may sometimes become critical, as in the present case, since rapid intervention would have enabled prophylactic therapy to be performed to combat surgical stress.

  19. Case report: waardenburg syndrome.

    Science.gov (United States)

    Dumayas, Grace Lea; Capó-Aponte, José E

    2015-03-01

    A case of Waardenburg syndrome type 1 is described and relevant literature is reviewed to raise awareness about this rare syndrome, including the classification of each subtype and the differentiating clinical manifestations. A 44-year-old African-American female presented for a routine evaluation with hearing loss, dystopia canthorum (W index = 2.74), and almost complete gray hair. In addition, she presented with heterochromia irides, different fundus pigmentation between eyes. The patient did not have any upper limbs defect, cranial skeletal abnormalities, or intestinal disorders. Facial abnormalities and a white forelock are prominent features difficult to overlook during a routine ophthalmological examination. A careful medical history in patients with suspected Waardenburg syndrome is important to accurately classify this rare condition and to identify potential systemic implications associated to each subtype. The associated systemic complications can be addressed and managed through referral to the appropriate subspecialties. Reprint & Copyright © 2015 Association of Military Surgeons of the U.S.

  20. Swyer-James-Macleod's syndrome. A case report

    International Nuclear Information System (INIS)

    Pacheco C, Dario; Ojeda Leon, Paulina; Varo Acosta, Humberto; Salcedo Veles, Patricia; Salazar Juan Carlos

    1998-01-01

    This is a case report about a 67 years-old female patient with respiratory syndrome of 8 years with cough and dyspnoea. End-inspiration crackles in the pulmonary auscultation were found in left hemi thorax. Chest x-ray in expiration and inspiration showed hyperluscency and air trapping in the same hemi-thorax. Chest high-resolution CT revealed a low sized, oligohemic left lung with cylindrical bronchiectasis. Perfusion scintigraphy 99Tc labeled showed markedly left lung hypo-perfusion. Mild obstructive process was found in pulmonary function test. Lung biopsy of lingula reported bronchiolitis obliterans. Considered all the results that were obtained from clinical, x-ray and histopathology, a diagnosis of Swyer-James-Macleods syndrome was made

  1. Pseudohypoparathyroidism with Hashimoto's thyroiditis and Turner syndrome: a case report.

    Science.gov (United States)

    Zeng, Wen-Heng; Xu, Jiao-Jun; Jia, Min-Yue; Ren, Yue-Zhong

    2014-10-01

    To report the case of an individual with PHP, Turner syndrome and Hashimoto's thyroiditis. A 16-year-old girl was referred to our hospital with chief complaint of short stature. She presented with round chubby facies, short neck, obesity and short stature. Radiography indicated short metatarsals and metacarpals, which mainly affected the second, third and fourth digits. Biochemistry revealed hyperphosphatemia, increased serum concentrations of parathyroid hormone and thyroid stimulating hormone, elevated levels of follicular-stimulating hormone and prolactin, and increased thyroid peroxidase antibody and thyroglobulin antibody. Radiographic examination revealed delayed bone age and pelvic ultrasonography demonstrated an immature uterus. Karyotype analysis showed 46,X,i(Xq10), while molecular analysis revealed a same sense mutation in exon 5 of GNAS (ATC → ATT, Ile).The specific diagnosis was made of Turner syndrome in the presence of Hashimoto's thyroiditis and PHP. She was treated with calcium supplementation, calcitriol and thyroxine. This is the first case report to describe a combination of Turner syndrome with these other clinical entities, and their co-existence should be considered and further investigated.

  2. Mixed Hyperlipidemia Associated with Triple X Syndrome (A Case Report

    Directory of Open Access Journals (Sweden)

    Anton-Pǎduraru Dana-Teodora

    2014-06-01

    Full Text Available Lipid metabolism abnormalities in children may be hereditary or secondary to certain diseases (obesity, type 2 diabetes mellitus. Often elevated triglycerides values are associated with high cholesterol values, playing a major role on atherosclerosis. The triple X syndrome also called “the superfemale syndrome” is not a rare condition, but it is usually undiagnosed or occasionally diagnosed when other investigations are done. The authors present the case of a child admitted in the 3rd Clinic of Pediatrics -“Sf. Maria” Children’s Emergency Hospital, Iaşi -Romania for the continuation of her lipid metabolism investigations, being diagnosed on this occasion with the triple X syndrome. We conclude that the investigation of lipid metabolism, early identification of lipid abnormalities and proper treatment significantly reduce the prevalence of cardiovascular disease in adults. We cannot specify the impact of the presence of the chromosomal anomaly, as it is an accidental association

  3. Rectal mucosal prolapse syndrome as an unusual gastrointestinal manifestation of Sjögren's syndrome: a case report

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    Koga Hideki

    2009-10-01

    Full Text Available Abstract Introduction Rectal mucosal prolapse syndrome, histologically characterized by fibromuscular obliteration in the lamina propria, hyperplastic glands and thickened muscularis mucosa, causes rectal bleeding. Sjögren's syndrome is an autoimmune exocrinopathy that chiefly destroys the salivary and lacrimal glands by lympho-plasmacytic infiltration. Although various gastrointestinal manifestations have been reported in patients with Sjögren's syndrome, there have not been to our knowledge any case reports to date of rectal mucosal prolapse syndrome in association with Sjögren's syndrome. Case presentation A 68-year-old Japanese woman with Sjögren's syndrome and long-term constipation consulted our hospital because of rectal bleeding. Because of dysphagia and xerostomia, she had consistently refused recommendations to take oral medicines including cathartics. Therefore, she frequently strained excessively during defecation. Colonoscopy and radiological examinations disclosed eroded flat protrusions of the rectum. Microscopic examination demonstrated inflamed mucosa with elongated tortuous glands and fibromuscular obliteration. Based on these findings, a diagnosis of rectal mucosal prolapse syndrome was made. Prohibition of straining during defecation and sulfasalazine suppository use were effective. Conclusion This case highlights the importance of defecation control in patients with Sjögren's syndrome. In the case presented, rectal mucosal prolapse syndrome following long-term excessive straining during defecation caused rectal bleeding. Clinicians should consider rectal mucosal prolapse syndrome as a gastrointestinal manifestation of Sjögren's syndrome.

  4. 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

  5. Successful pulmonary venous channeling in a case of scimitar syndrome

    International Nuclear Information System (INIS)

    Fatimi, S.; Sheikh, S.; Syed, A.

    2006-01-01

    A young girl child with recurrent pneumonias, failure to thrive and dextroposed heart was diagnosed with and surgically treated for scimitar syndrome. Early diagnosis and treatment of this syndrome prevents serious morbidity. (author)

  6. A Pediatric Case of Cowden Syndrome with Graves’ Disease

    Directory of Open Access Journals (Sweden)

    Cláudia Patraquim

    2017-01-01

    Full Text Available Cowden syndrome (CS is a rare dominantly inherited multisystem disorder, characterized by an extraordinary malignant potential. In 80% of cases, the human tumor suppressor gene phosphatase and tensin homolog (PTEN is mutated. We present a case of a 17-year-old boy with genetically confirmed CS and Graves’ disease (GD. At the age of 15, he presented with intention tremor, palpitations, and marked anxiety. On examination, he had macrocephaly, coarse facies, slight prognathism, facial trichilemmomas, abdominal keratoses, leg hemangioma, and a diffusely enlarged thyroid gland. He started antithyroid drug (ATD therapy with methimazole and, after a 2-year treatment period without achieving a remission status, a total thyroidectomy was performed. Diagnosis and management of CS should be multidisciplinary. Thyroid disease is frequent, but its management has yet to be fully defined. The authors present a case report of a pediatric patient with CS and GD and discuss treatment options.

  7. Bilateral Anterior Opercular Syndrome With Partial Kluver?Bucy Syndrome in a Stroke Patient: A Case Report

    OpenAIRE

    Cho, Ah-Ra; Lim, Young-Ho; Chung, Sae-Hoon; Choi, Eun-Hi; Lim, Jong Youb

    2016-01-01

    Bilateral anterior opercular syndrome and partial Kluver?Bucy syndrome are associated with bilateral middle cerebral artery lesions. The combination of these two syndromes has only been reported in a child with limbic encephalitis. In this case, a 44-year-old woman with bilateral middle cerebral artery infarction, which occurred 2 years prior, could walk independently. However, she showed automatic-voluntary dissociation and anarthria with preserved writing skills. She also presented hypersex...

  8. A Case of Ramsay Hunt Syndrome with Atypical Presentation

    Directory of Open Access Journals (Sweden)

    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. ADULT VARIANT BARTTER’S SYNDROME- A CASE REPORT

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    Ishwar Sidappa Hasabi

    2017-02-01

    Full Text Available BACKGROUND Bartter syndrome is a group of channelopathies with different genetic origins and molecular pathophysiologies, but sharing common feature of decreased tubular transport of sodium chloride in thick ascending loop of Henle (TAL, 1 although more common in antenatal group. Classic adult variant of Bartter syndrome is a rare entity. We hereby present a rare adult variant of classic Bartter syndrome.

  10. A case of pervasive refusal syndrome: a diagnostic conundrum.

    LENUS (Irish Health Repository)

    McNicholas, Fiona

    2013-01-01

    A case is presented of an 11-year-old girl with pervasive refusal syndrome (PRS) who ultimately recovered acutely and completely after an 18-month paediatric hospitalisation. There was an apparent absence of previously proposed important aetiological factors in PRS, such as family pathology and markedly traumatic or abusive experiences, and her recovery was sudden and complete. The authors consider the differential diagnoses of PRS paying particular attention to the possibility of a conversion disorder or catatonia, given the absence of PRS in the North American literature. Consideration of catatonia is important as it has a diagnostic test and responds rapidly to appropriate treatment, in contrast to conventional treatment for PRS and conversion disorder.

  11. A Challenging Case of an Ectopic Cushing Syndrome

    Directory of Open Access Journals (Sweden)

    Joana Menezes Nunes

    2014-01-01

    Full Text Available Bronchopulmonary carcinoids are rare pulmonary neoplasms although they account for most cases of ectopic ACTH syndromes. When feasible, the mainstay treatment is surgical resection of the tumor. We report the case of a 52-year-old woman with signs and symptoms suggestive of hypercortisolism for 12 months, admitted to our department because of community acquired pneumonia. Blood hormone analysis showed increased levels of ACTH and urinary free cortisol and nonsuppressibility to high- and low-dose dexamethasone tests. Pituitary MRI showed no lesion and no central-to-peripheral ACTH gradient was present in bilateral inferior petrosal sinus sampling. CRH stimulation test suggested an ectopic ACTH source. Thoracic CT scan revealed a nodular region measuring 12 mm located in the inferior lingular lobule of the left superior lung with negative uptake by 18-FDG-PET scan and negative SRS. The patient was successfully treated with an atypical lung resection and histology revealed an atypical bronchial carcinoid tumor with positive ACTH immunoreactivity. This was an interesting case because the patient was admitted due to pneumonia that may have been associated with her untreated and chronic hypercortisolism and a challenging case of ectopic ACTH syndrome due to conflicting results on the diagnostic exams.

  12. Wolfram Syndrome. Case report.

    Science.gov (United States)

    Tarała, Wojciech; Drachal, Elzbieta; Mazur, Artur; Korczowski, Bartosz; Szadkowska, Agnieszka; Zmysłowska, Agnieszka; Młynarski, Wojciech

    2016-01-01

    Wolfram syndrome is a rare neurodegenerative and genetic disorder, characterized by insulin-dependent diabetes mellitus, caused by non-autoimmune loss of β cells, as well as optic atrophy; the disease is also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Patients that demonstrate diabetes mellitus are also affected by: optic atrophy in the first decade of their life, diabetes insipidus and sensorineural deafness in the second decade, and urinary tract and neurological abnormalities in the third decade of their life. Patients with Wolfram syndrome usually die due to central respiratory failures caused by brain stem atrophy in their third or at the beginning of their fourth decade of life. The authors present a case of two female siblings with diagnosed Wolfram syndrome that have been diagnosed with diabetes mellitus, optic atrophy, and urological abnormalities. Early diagnosis and adequate hormonal supplementation can improve their quality of life. © Polish Society for Pediatric Endocrinology and Diabetology.

  13. Case Report : A Relieved Family with the Diagnosis of Wernicke-Korsakoff Syndrome

    Directory of Open Access Journals (Sweden)

    Ahmet Kokurcan

    2014-02-01

    Full Text Available Wernicke-Korsakoff Syndrome (WKS is a diagnosis formed from Wernicke ensephalopathy and Korsakoff Syndrome together. WKS is usually a chronic syndrome beginning acutely. Wernicke%u2019s encephalopathy is an acute syndrome composed of the triad of oculomotor signs; ataxia and confusion. B vitamines especially tiamine are considered to cause the syndrome. Korsakoff syndrome is a syndrome presenting with amnesia and amnesia is permanent in many cases. While Korsakoff syndrome is a continuation form of Wernicke; the syndromes are admitted as the acute and chronic conditions of the same pathophysiology. WKS syndrome means despair for many psychiatrists and the family unless treatment is initiated in the acute phase and irreversible cognitive impairment is prevented. We will discuss a case of WKS pleasing his family as nervousness has improved with cognitive impairment.

  14. Dapsone induced cholangitis as a part of dapsone syndrome: a case report

    Science.gov (United States)

    Itha, Srivenu; Kumar, Ashish; Dhingra, Sadhna; Choudhuri, Gourdas

    2003-01-01

    Background Dapsone can rarely cause a hypersensitivity reaction called dapsone syndrome, consisting of fever, hepatitis, exfoliative dermatitis, lymphadenopathy and hemolytic anemia. Dapsone syndrome is a manifestation of the DRESS (drug rash with eosinophilia and systemic symptoms) syndrome which is a serious condition that has been reported in association with various drugs. Cholangitis in dapsone syndrome has not been reported so far in the world literature. Case presentation We report a patient who presented with fever, exfoliative dermatitis, jaundice and anemia within three weeks of starting of dapsone therapy. These features are typical of dapsone syndrome, which is due to dapsone hypersensitivity and is potentially fatal. Unlike previous reports of hepatitic or cholestatic injury in dapsone syndrome we report here a case that had cholangitic liver injury. It responded to corticosteroids. Conclusion We conclude that cholangitis, though unusual, can also form a part of dapsone syndrome. Physicians should be aware of this unusual picture of potentially fatal dapsone syndrome. PMID:12911838

  15. Night Eating Syndrome: Report of a family case.

    Science.gov (United States)

    Sevinçer, Güzin M; Allison, Kelly C

    2016-08-01

    Night eating syndrome (NES) represents a circadian delay in the pattern of eating. As there are genetic links for other eating- and circadian-based disorders, it is likely that there is a genetic basis for NES as well. We present a family case study of three identified patients and their extensive family history of NES and co-morbid mood disorders. This case report suggested that NES may have a heritable feature, particularly nocturnal ingestions. Of the seven identified cases, four had co-morbid mood disorders, and all descended from a couple with bipolar disorder and delusional disorder. More work is needed to understand the extent of genetic influence on NES, and the relationship between NES and other psychiatric disorders. Copyright © 2016 Elsevier Ltd. All rights reserved.

  16. Dancing with Down Syndrome: A Phenomenological Case Study

    Science.gov (United States)

    Reinders, Nicole; Bryden, Pamela J.; Fletcher, Paula C.

    2015-01-01

    "Dance for individuals with Down syndrome has many benefits; however, there is little research on this topic." Down syndrome is the most common "genetic condition," resulting in psychological, physical, and social impairments. There is research to suggest that dance may be a beneficial activity for people with Down syndrome;…

  17. [A case report on Waardenburg syndrome with cleft lip].

    Science.gov (United States)

    Traoré, H; Traoré, D; Ouane, O; Simpara, B; Ongoiba, N

    2011-01-01

    The syndrome of Waardenburg is a congenital plurimal formatif unit rare described and individualized for the first time by Waardenburg in 1951. It associates in its form most typical dystopie canthale intern, a widening of the base of the nose, disorders of the pigmentation. We wanted brought back this case because of its scarcity. It was about a 18 month old infant without particular antecedents, which was drawn up to us for correction of congenital malformation. The interrogation did not make it possible to find signs functional notable. With the examination it had a general good state. t presented a bilateral iridal hypochromy, a dystopie canthale, a canitie, a bilateral labial slit. The diagnosis of presumption was the Syndrome of Waardenburg because of the description of at least 2 major signs: dystopie canthale and disorders of the pigmentation. The complementary examinations carried out were those of the preoperative assessment which returned normal. The biological diagnosis which rests on the search for change of gene was not made for reasons of technical order and financier. The surgery is centered on the treatment of the labial slit. A chéiloplastie according to Millard was carried out. The continuations were simple. The Syndrome of Waardenburg is a rare, hereditary entity. A neurosensory deafness, musculo-skeletal anomalies, thus qu' a disease of Hirschsprung will have to be systematically required. The surgery of the slit or the télécanthus allows an social integration of the subjects reached.

  18. Cracked tooth syndrome: A report of three cases.

    Science.gov (United States)

    Sadasiva, Kadandale; Ramalingam, Sathishmuthukumar; Rajaram, Krishnaraj; Meiyappan, Alagappan

    2015-08-01

    Cracked tooth syndrome (CTS), the term was coined by Cameron in 1964, which refers to an incomplete fracture of a vital posterior tooth extending to the dentin and occasionally into the pulp. CTS has always been a nightmare to the patient because of its unpredictable symptoms and a diagnostic dilemma for the dental practitioner due to its variable, bizarre clinical presentation. The treatment planning and management of CTS has also given problems and challenges the dentist as there is no specific treatment option. The management of CTS varies from one case to another or from one tooth to another in the same individual based on the severity of the symptoms and depth of tooth structure involved. After all, the prognosis of such tooth is still questionable and requires continuous evaluation. This article aims at presenting a series three cases of CTS with an overview on the clinical presentation, diagnosis and the different treatment options that varies from one case to another.

  19. Infant Boy with Microcephaly Gastroesophageal Refl ux and Nephrotic Syndrome (Galloway-Mowat Syndrome): A Case Report.

    Science.gov (United States)

    Malaki, Majid; Rafeey, Mandana

    2012-01-01

    In this case report, we present the first diagnosed case of Galloway-Mowat syndrome in Iran. A 7 month old infant boy withmicrocephaly that had prominently stunted head growth afterbirth, gastroesophageal reflux, multiple craniofascial characters,hypothyroidism and nephrotic syndrome diagnosed at 5 monthsof age associated with rapid decline in renal function and heavyproteinuria in 2 months .

  20. The Management of Staphylococcal Toxic Shock Syndrome. A Case Report

    Directory of Open Access Journals (Sweden)

    Bîrluţiu Victoria

    2016-04-01

    Full Text Available Staphylococcal toxic shock syndrome (TSS is most frequently produced by TSS toxin-1 (TSST-1 and Staphylococcal enterotoxin B (SEB, and only rarely by enterotoxins A, C, D, E, and H. Various clinical pictures can occur depending on severity, patient age and immune status of the host. Severe forms, complicated by sepsis, are associated with a death rate of 50-60%. The case of a Caucasian female infant, aged seven weeks, hospitalized with a diffuse skin rash, characterized as allergodermia, who initially developed TSS with axillary intertrigo, is reported.

  1. A case of unilateral atypical orofacial pain with Eagle's syndrome

    Directory of Open Access Journals (Sweden)

    G V Sowmya

    2016-01-01

    Full Text Available Eagle's syndrome is not an uncommon condition, but less known to physicians, where an elongated styloid process or calcified stylohyoid ligament compresses the adjacent anatomical structures leading to orofacial pain. Diagnosis is made with appropriate radiological examination. Nonsurgical treatment options include reassurance, analgesia, and anti.inflammatory medications; and the surgical option includes a transoral or external approach. Here, we present a case report of a male patient, of age38 years, with a chief complaint of unilateral atypical orofacial pain on the right side of his face radiating to the neck region, for the last two months.

  2. Dapsone induced cholangitis as a part of dapsone syndrome: a case report

    OpenAIRE

    Choudhuri Gourdas; Dhingra Sadhna; Kumar Ashish; Itha Srivenu

    2003-01-01

    Abstract Background Dapsone can rarely cause a hypersensitivity reaction called dapsone syndrome, consisting of fever, hepatitis, exfoliative dermatitis, lymphadenopathy and hemolytic anemia. Dapsone syndrome is a manifestation of the DRESS (drug rash with eosinophilia and systemic symptoms) syndrome which is a serious condition that has been reported in association with various drugs. Cholangitis in dapsone syndrome has not been reported so far in the world literature. Case presentation We r...

  3. Management of Hypothenar Hammer Syndrome A Case Report.

    Science.gov (United States)

    Swofford, Brenen P; Swofford, Devon P

    2018-02-09

    BACKGROUND Hypothenar hammer syndrome is a relatively rare disease process caused by repetitive stress or injury to the hypothenar eminence leading to chronic injury to the ulnar artery. This chronic stress (usually as a result of occupational or sport activities) may result in arterial constriction or thickening, which may lead to thrombosis or aneurysm formation. A review of current literature revealed that reports related to management of hypothenar hammer syndrome are limited. CASE REPORT A 33-year-old male without significant past medical history presented with left hand/digit pain, skin discoloration, and coolness of the hand/digits after a mechanical accident experienced 12 hours prior to presentation. Angiography confirmed reduced flow in the ulnar and radial artery with significant spasm of the ulnar artery. Treatment consisted of heparin, nitroglycerin, and papaverine with rapid resolution of symptoms. The patient was discharged on anticoagulation and a calcium channel blocker, with scheduled follow-up. CONCLUSIONS Hypothenar hammer syndrome is a rare disease process which manifests in certain occupations and activities that put undue stress on the hypothenar area. The use of angiography for definitive diagnosis and the use of anticoagulation and calcium channel blockers for treatment should continue to be studied to determine a standard treatment regimen.

  4. Comorbidity between Klinefelter syndrome and diaphragmatic hernia. A case report

    Directory of Open Access Journals (Sweden)

    Carolina Melendez Valdez

    Full Text Available CONTEXT: Intrathoracic cystic lesions have been diagnosed in a wide variety of age groups, and the increasing use of prenatal imaging studies has allowed detection of these defects even in utero.CASE REPORT: A 17-year-old pregnant woman in her second gestation, at 23 weeks of pregnancy, presented an ultrasound with evidence of a cystic anechoic image in the fet al left hemithorax. A morphological ultrasound examination performed at the hospital found that this cystic image measured 3.7 cm x 2.1 cm x 1.6 cm. Polyhydramnios was also present. At this time, the hypothesis of cystic adenomatoid malformation was raised. Fet al echocardiography showed only a dextroposed heart. Fet al magnetic resonance imaging produced an image compatible with a left diaphragmatic hernia containing the stomach and at least the first and second portions of the duodenum, left lobe of the liver, spleen, small intestine segments and portions of the colon. The stomach was greatly distended and the heart was shifted to the right. There was severe volume reduction of the left lung. Fet al karyotyping showed the chromosomal constitution of 47,XXY, compatible with Klinefelter syndrome. In our review of the literature, we found only one case of association between Klinefelter syndrome and diaphragmatic hernia.CONCLUSIONS: We believe that the association observed in this case was merely coincidental, since both conditions are relatively common. The chance of both events occurring simultaneously is estimated to be 1 in 1.5 million births.

  5. PHACE(S syndrome: Report of a case with new ocular and systemic manifestations

    Directory of Open Access Journals (Sweden)

    Raheleh Assari

    2017-06-01

    Conclusions: To our knowledge, this report was the first report of a pattern like Brown’s syndrome (may be called apparent Brown’s syndrome and the second report of the congenital glaucoma in a case of PHACE(S syndrome. In addition, the anomalous origin of the vertebral artery from the aortic arch has not been reported in the PHACE(S syndrome. Thus, the clinicians should perform the glaucoma work-up for each patient with this syndrome.

  6. [Coffin-Siris syndrome. Critical study of the literature apropos of a case].

    Science.gov (United States)

    Foasso, M F; Hermier, M; Descos, B; Collet, J P; Perron, F

    1983-03-01

    The authors report a case of the Coffin Siris syndrome which associates a ungueo-digital syndrome (special by the bilateral aplasia or severe hypoplasia of nails and third phalanx of fifth toes and fingers) to other anomalies: facies with thinly fine hairs contrasting with bushy and dense eyebrows and body hypertrichosis, hypotonia and mental retardation. The connections of the Coffin Siris syndrome with the trisomy 9 p+ syndrome and the fetal hydantoïn syndrome are discussed.

  7. Neuroleptic Malignant Syndrome: A Case Aimed at Raising Clinical Awareness

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    Jad Al Danaf

    2015-01-01

    Full Text Available A 60-year-old man with a history of bipolar disorder on risperidone, bupropion, and escitalopram was admitted for community acquired streptococcal pneumonia. Four days later, he developed persistent hyperthermia, dysautonomia, rigidity, hyporeflexia, and marked elevation of serum creatine phosphokinase. He was diagnosed with neuroleptic malignant syndrome (NMS and improved with dantrolene, bromocriptine, and supportive therapy. This case emphasizes the importance of considering a broad differential diagnosis for fever in the ICU, carefully reviewing the medication list for all patients, and considering NMS in patients with fever and rigidity.

  8. Alstrom syndrome (OMIM 203800: a case report and literature review

    Directory of Open Access Journals (Sweden)

    Hegele Robert A

    2007-12-01

    Full Text Available Abstract Background Alstrom syndrome (AS is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss. Associated endocrinologic features include hyperinsulinemia, early-onset type 2 diabetes, and hypertriglyceridemia. Thus, AS shares several features with the common metabolic syndrome, namely obesity, hyperinsulinemia, and hypertriglyceridemia. Mutations in the ALMS1 gene have been found to be causative for AS with a total of 79 disease-causing mutations having been described. Case presentation We describe the case of a 27-year old female from an English (Caucasian kindred. She had been initially referred for hypertriglyceridemia, but demonstrated other features suggestive of AS, including blindness, obesity, type 2 diabetes, renal dysfunction, and hypertension. DNA analysis revealed that she is a compound heterozygote with two novel mutations in the ALMS1 gene – H3882Y and V424I. Examination of her family revealed that her phenotypically unaffected mother and younger sister also had heterozygous mutations in the ALMS1 gene. In addition to presenting these novel molecular findings for AS, we review the clinical and genetic features of AS in the context of our case. Conclusion Two novel mutations in the ALMS1 gene causative for AS have been reported here, thereby increasing the number of reported mutations to 81 and providing a wider basis for mutational screening among affected individuals.

  9. Management of tardive syndromes with clozapine: a case series.

    Science.gov (United States)

    Grover, Sandeep; Hazari, Nandita; Kate, Natasha; Chakraborty, Kaustav; Sharma, Akhilesh; Singh, Dharmendra; Gupta, Jyoti; Lahariya, Sanjay

    2014-04-01

    Tardive syndromes are among the most debilitating side effects associated with use of antipsychotics. In this case series we present 5 cases of drug induced tardive syndromes, who had not responded to many of the other therapeutic measures but responded to clozapine. The response rate with clozapine varied from 50% to 100% and the response was seen by week 3 in most cases. Over the long term follow-up of as long as 6 years the response to clozapine was sustained. In two cases clozapine could be stopped. Copyright © 2014 Elsevier B.V. All rights reserved.

  10. [Case of Gorlin syndrome].

    Science.gov (United States)

    González Bahillo, J D; Varela Patiño, M P; Gómez Segade, L; Paz Pumpido, F; Rivas Lombardero, P

    1989-10-01

    In this paper we report a Gorlin's syndrome in a patient, who was first diagnosed as a case of a large odontogenic keratocyst. Posterior analysis demonstrate the presence of other keratocyst in the maxilla and in the mandible, as well as lumbar scoliosis, lack and malformation of ribs, calcification of the brain sickle and folicles of 8 mm of diameter in the right ovary. The possible presence of nevoid basal cell carcinomas will be also considered.

  11. [Case report: Muir-Torre syndrome diagnosed from a sebaceoma mimicking an ulcerated breast cancer].

    Science.gov (United States)

    Demolin, G; Romain, M; Münschke, A; Vandingenen, T; Blaude, M-A; Van Craynest, M-P

    2016-09-01

    On the basis of a case report, we conducted a search through the literature concerning Muir-Torre syndrome. This syndrome is considered to be a phenotypic variant of Lynch syndrome (or Human Non Polyposis Colorectal Cancer). Muir-Torre syndrome is a familial cancer syndrome defined as the association of an internal malignancy with cutaneous sebaceous tumors. It is a rare disease. In our knowledge, this case is the first reported skin lesion related to Muir-Torre syndrome, located on the breast and mimicking ulcerated breast cancer. Genetic counselling obviously has an important place in the management of this pathology. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  12. A Case of Turner Syndrome with Multiple Embolic Infarcts

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    Cindy W. Yoon

    2016-09-01

    Full Text Available Only a few cases of Turner syndrome (TS with ischemic stroke have been reported. Various arteriopathies of the cerebral arteries, including fibromuscular dysplasia, congenital hypoplasia, moyamoya syndrome, and premature atherosclerosis have been assumed to be the cause of ischemic stroke in TS. There has been no case report of a TS patient presenting with an embolic stroke pattern without any cerebral arteriopathy. A 28-year-old woman with TS was referred to our hospital because of abnormal brain magnetic resonance imaging (MRI findings. She underwent brain MRI at the referring hospital because she experienced sudden-onset diffuse headache. Diffusion-weighted imaging revealed multiple acute embolic infarcts in different vascular territories. Intracranial and extracranial arterial disease was not detected on cerebral magnetic resonance angiography and carotid sonography. Embolic source workups, including transthoracic and transesophageal echocardiography, Holter monitoring, and transcranial Doppler shunt study, were all negative. Hypercoagulability and vasculitis panels were also negative. Our patient was diagnosed with cryptogenic embolic stroke. This is the first report of a TS patient with an embolic stroke pattern. Our case shows that ischemic stroke in TS could be due to embolism as well as the various cerebral arteriopathies documented in previous reports.

  13. Ischemic Changes in a Case of Unilateral Pseudoexfoliation Syndrome

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    Tolga Kocaturk

    2016-05-01

    Full Text Available A 66 year old man with normotensive unilateral pseudoexfoliation syndrome associated with ipsilateral marked ischemia with nerve fiber layer thinning and nasal step on successive visual field tests mimicking glaucomatous visual field loss is presented. Although the optic disc appearance of the clinically visible pseudoexfoliative left eye was not suggestive of glaucomatous cupping the disc appeared much pale and retinal vessels narrowed compared to the right eye. Color Doppler imaging of the left ophthalmic artery showed extremely high resistivity index of 0.88. The case is discussed in light of recent literature underscoring the fact that pseudoexfoliation is a cause of ocular ischemia.

  14. Partial prune belly syndrome: A rare case report

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    Aditya Pratap Singh

    2017-01-01

    Full Text Available Prune belly syndrome (PBS is characterized by deficient development of abdominal muscles that causes the skin of the abdomen to wrinkle like a prune, bilateral cryptorchidism, abnormalities of the urinary tract. The etiology of PBS is unclear and possible familial genetic inheritance was reported in some of the studies. We are presenting here a case with the absence of the muscle in the right side of the abdomen as hernia, thinning of the muscle on left side with bilateral cryptorchidism, and abnormalities of the urinary tract. It is the partial presentation of the PBS.

  15. 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.

  16. Postmenopausal Meigs' Syndrome in Elevated CA-125: A Case Report.

    Science.gov (United States)

    Park, Jung-Woo; Bae, Jong Woon

    2015-04-01

    Meigs' syndrome is a benign ovarian tumor associated with ascites and pleural effusion. Elevated cancer antigen 125 (CA-125) in Meigs' syndrome is an unusual clinical condition reported in few cases. We report here on a 61-year-old woman who presented with dyspnea; in imaging assessment, a heterogeneous pelvic mass measuring 12 × 11 cm with ascitic fluid was reported. Pleural effusion was detected on Chest X-ray. Aspiration of pleural fluid showed no evidence of malignancy. CA-125 level was 347 IU/mL. The patient underwent laparotomy during which a mass measuring 12 × 11 cm was detected in her left adnexa. Histology showed ovarian thecoma. The mass was resected, and, after that, the symptoms disappeared and CA-125 level reached 19 IU/mL. The patient had experienced no problem after 12 months of follow up. Although postmenopausal women with ovarian tumor, ascites, pleural effusion, and elevation of CA-125 levels probably have malignant ovarian tumors, Meigs' syndrome must be considered in the differential diagnosis.

  17. Anorexia nervosa and Wernicke-Korsakoff syndrome: a case report

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    Dantas Clarissa R

    2010-07-01

    Full Text Available Abstract Introduction Wernicke's encephalopathy is an acute, potentially fatal, neuropsychiatric syndrome resulting from thiamine deficiency. The disorder is still greatly under-diagnosed, and failure to promptly identify and adequately treat the condition can lead to death or to the chronic form of the encephalopathy - Korsakoff's syndrome. Wernicke's encephalopathy has traditionally been associated with alcoholism but, in recent years, there has been an increase in the number of clinical settings in which the disorder is observed. Case presentation We report the case of a 45-year-old Caucasian woman who arrived at the emergency room presenting signs of marked malnutrition and mental confusion, ataxic gait and ophthalmoplegia. Main laboratory test findings included low serum magnesium and megaloblastic anemia. Brain magnetic resonance imaging revealed increased T2 signal in the supratentorial paraventricular region, the medial regions of the thalamus and the central and periaqueductal midbrain. The diagnosis of Wernicke's encephalopathy was made at once and immediate reposition of thiamine and magnesium was started. The patient had a long history of recurrent thoughts of being overweight, severe self-imposed diet restrictions and self-induced vomiting. She had also been drinking gin on a daily basis for the last eight years. One day after admittance the acute global confusional state resolved, but she presented severe memory deficits and confabulation. After six months of outpatient follow-up, memory deficits remained unaltered. Conclusion In this case, self-imposed long-lasting nutritional deprivation is thought to be the main cause of thiamine deficiency and subsequent encephalopathy, but adjunct factors, such as magnesium depletion and chronic alcohol misuse, might have played an important role, especially in the development of Korsakoff's syndrome. The co-morbidity between eating disorders and substance abuse disorders has emerged as a

  18. [Psychotic disorder induced by Fahr's syndrome: a case report].

    Science.gov (United States)

    El Hechmi, S; Bouhlel, S; Melki, W; El Hechmi, Z

    2014-06-01

    Fahr's syndrome is a rare disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including the basal ganglia and the cerebral cortex associated with many neurological and psychiatric abnormalities such as a rigid hypokinetic syndrome, mood disorders and cognitive impairment. Fahr's syndrome is secondary to some disorders, such as hypoparathyroidism. We report the case of a 56 year-old man, with a history of cataract, who was admitted to our psychiatric hospital for the first time in his life because of psychotic symptoms associated with irritability and aggressiveness. Since the age of 38 the patient had become nervous, 10 years later he developed tonic-clonic seizures. Two months ago, he began expressing delusions of persecution against his wife and sons and making fugues. According to his family during this period, he was agitated, aggressive, and suffered from insomnia and anorexia. The general and psychiatric examination showed an upright and bronzed patient with neglected hygiene. He was indifferent to his environment and expressed poor mimics and gestures. He was anxious, suspicious and not very talkative. He was conscious but his attention was slightly decreased. Moreover, he was not aware of his problems. The neurological examination showed extrapyramidal syndrome with postural tremor and cerebellar ataxia. A cranial computed tomography brain scan found bilateral, symmetric basal ganglia calcifications, in favour of Fahr's syndrome. Phosphocalcic investigations revealed low concentration of serum calcium at 1.01mmol/L (normal 2.15 to 2.57mmol/L) and hyperphosphoremia at 2.69mmol/L (normal 0.81 to 1.55mmol/L). He also had low concentrations of 25-OH vitamin as well as decreased urinary levels of phosphate and calcium. The blood level of parathyroid hormone was 0ng/L. The diagnosis of Fahr's syndrome, revealing a hypoparathyroidism was posed. He was supplemented with calcium and alpha cholecalciferol and treated

  19. Rapunzel syndrome in a pediatric patient: a case report.

    Science.gov (United States)

    Middleton, Elizabeth; Macksey, Lynn Fitzgerald; Phillips, J Duncan

    2012-04-01

    This case report describes a 2.5-year-old girl who was hospitalized with complaints of abdominal pain and vomiting for 2 days. Abdominal ultrasound revealed small bowel-to-small bowel intussusception. Diagnostic laparoscopic-assisted exploration of the abdomen revealed 4 separate intestinal intussusceptions along with multiple dark intraluminal masses within the small intestine. Laparoscopic reduction of the intussusceptions was unsuccessful. Laparotomy allowed palpation of the entire small intestine with extraction of the masses, which were found to be human hair (trichobezoars). The intussusceptions were reduced, and the multiple masses were removed through a single enterotomy. The child recovered following surgery and was discharged home to her family. The surgeon counseled the parents before discharging the patient and recommended follow-up counseling for their child. The parents were given information about trichophagia and strategies to reduce the behavior in their child. A comprehensive literature review revealed this to be the youngest reported case of intussusception and Rapunzel syndrome due to trichobezoars.

  20. Coronary artery bypass surgery in a patient with Kartagener syndrome: a case report and literature review

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    Bougioukas Ioannis

    2010-08-01

    Full Text Available Abstract Kartagener syndrome consists of congenital bronchiectasis, sinusitis, and total situs inversus in half of the patients. A patient diagnosed with Kartagener syndrome was reffered to our department due to 3-vessel coronary disease. An off-pump coronary artery bypass operation was performed using both internal thoracic arteries and a saphenous vein graft. We performed a literature review for cases with Kartagener syndrome, coronary surgery and dextrocardia. Although a few cases of dextrocardia were found in the literature, no case of Kartagener syndrome was mentioned.

  1. A case of Fregoli syndrome and Erotomania associated with anemia

    Directory of Open Access Journals (Sweden)

    Hemendra Singh

    2014-01-01

    Full Text Available Although anemia due to the cobalamin deficiency has been described as a cause of a wide range of psychiatric disorders, the role of iron deficiency anemia in psychiatric disorders remains unexplored. We report a rare case of simultaneous presence of simultaneous presence of Fregoli syndrome with Erotomania which occuring in the context of iron and cobalamin deficiency anemia. The index patient improved after correction of anemia. But what is notable is that the patient continues to be free from psychotic symptoms even after 4 months of discharge. This case report shows a rare combination of two different delusional disorders that might be associated with anemia. This stresses the importance of doing a complete hematological work up in patients with psychiatric disorders.

  2. Sleep-Related Eating Disorder: A Case Report of a Progressed Night Eating Syndrome

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    Sayed Shahabuddin Hoseini

    2012-07-01

    Full Text Available Night eating syndrome is a common disorder in eating behaviors that occurs in close relation to the night time sleep cycle. Although eating disorders are common in society, night eating syndrome has been left neglected by health care professionals. In this report we present a case of eating disorder that exhibits some novel features of night eating syndrome. Our case was a progressed type of eating disorder which may increase awareness among physicians about sleep-related eating disorders.

  3. Sleep-Related Eating Disorder: A Case Report of a Progressed Night Eating Syndrome

    OpenAIRE

    Sayed Shahabuddin Hoseini; Zhamak Khorgami; Ahmad Reza Dehpour; Nasrin Shoar; Mohammad Naderan; Saeed Shoar

    2012-01-01

    Night eating syndrome is a common disorder in eating behaviors that occurs in close relation to the night time sleep cycle. Although eating disorders are common in society, night eating syndrome has been left neglected by health care professionals. In this report we present a case of eating disorder that exhibits some novel features of night eating syndrome. Our case was a progressed type of eating disorder which may increase awareness among physicians about sleep-related eating disorders.

  4. Sleep-related eating disorder: a case report of a progressed night eating syndrome.

    Science.gov (United States)

    Shoar, Saeed; Naderan, Mohammad; Shoar, Nasrin; Dehpour, Ahmad Reza; Khorgami, Zhamak; Hoseini, Sayed Shahabuddin

    2012-01-01

    Night eating syndrome is a common disorder in eating behaviors that occurs in close relation to the night time sleep cycle. Although eating disorders are common in society, night eating syndrome has been left neglected by health care professionals. In this report we present a case of eating disorder that exhibits some novel features of night eating syndrome. Our case was a progressed type of eating disorder which may increase awareness among physicians about sleep-related eating disorders.

  5. Complete androgen insensitivity syndrome with paratesticular leiomyoma: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Ji Hoon; Oh, Hyung Woo; Lee, Mi Ja; Lim, Dong Hoon [Chosun University College of Medicine, Gwangju (Korea, Republic of)

    2017-03-15

    Complete androgen insensitivity syndrome (AIS) is a rare, X-linked recessive disorder. Patients with AIS may develop primary amenorrhea due to androgen receptor resistance, resulting in a normal female phenotype and male (XY) karyotype. We report a case of a 30-year-old woman who was diagnosed with complete AIS. Ultrasonography and magnetic resonance imaging revealed bilateral inguinal cryptorchidism and no ovaries and uterus. After gonadectomy, the inguinal mass was confirmed as testicular atrophy with hamartomatous proliferation of Leydig cells and paratesticular leiomyoma. Although these tumors have been reported in association with AIS, this is the first case of paratesticular leiomyoma with hamartomatous proliferation of Leydig cells in atrophic testes being reported in Korea.

  6. Complete androgen insensitivity syndrome with paratesticular leiomyoma: A case report

    International Nuclear Information System (INIS)

    Lee, Ji Hoon; Oh, Hyung Woo; Lee, Mi Ja; Lim, Dong Hoon

    2017-01-01

    Complete androgen insensitivity syndrome (AIS) is a rare, X-linked recessive disorder. Patients with AIS may develop primary amenorrhea due to androgen receptor resistance, resulting in a normal female phenotype and male (XY) karyotype. We report a case of a 30-year-old woman who was diagnosed with complete AIS. Ultrasonography and magnetic resonance imaging revealed bilateral inguinal cryptorchidism and no ovaries and uterus. After gonadectomy, the inguinal mass was confirmed as testicular atrophy with hamartomatous proliferation of Leydig cells and paratesticular leiomyoma. Although these tumors have been reported in association with AIS, this is the first case of paratesticular leiomyoma with hamartomatous proliferation of Leydig cells in atrophic testes being reported in Korea

  7. [Mirizzi syndrome. Case report].

    Science.gov (United States)

    Paoloni, A; Bucchianeri, A; Mazzocconi, G

    2008-03-01

    The Mirizzi syndrome is an uncommon condition of obstructive jaundice secondary to a common hepatic duct obstruction caused by a gallstone impacted in the gallbladder's infundibulum. The differential diagnosis includes mainly gallbladder carcinoma, sclerosing colangitis and metastatic nodes . The syndrome is classified in two principal types: type I is an acute form without fistula and type II a chronic form with fistula. The preoperative diagnosis is difficult because the clinical signs, the laboratory data and the instrumental findings are not pathognomonic. Generally the diagnosis is intraoperative as in our case. A 76 year-old man with long-time cholelithiasis history, diabetes and hepatitis C was admitted in our service for jaundice and high abdominal quadrants pain. He underwent all preoperative exams without a definitive diagnosis. The operation, by "open" approach, lead to the direct and safe management of the structures of the region involved in the inflammatory process. We performed an incomplete colicystectomy; the patient were discharged in seventh postoperative day after a colangiographic control. In conclusion, we recommend to take in consideration the Mirizzi syndrome, even if rare, as a cholelithiasis complication and to approach this syndrome with extreme caution. Particularly, in accord with the literature, we dissuade from the laparoscopic approach, which doesn't often allow a definitive treatment and submit the patient to greater risk.

  8. Cortical thickness in a case of congenital unilateral perisylvian syndrome.

    Science.gov (United States)

    Kotini, A; Camposano, S; Hara, K; Salat, D; Cole, A; Stufflebeam, S; Halgren, E

    2004-11-30

    In congenital perisylvian syndrome, there is polymicrogyric cortex distributed in variable extensions around the sylvian fissure. Unilateral cases usually present with congenital hemiparesis, while bilateral cases have pseudobulbar paralysis of the oropharingoglossal region. Both unilateral and bilateral cases have a high rate of epilepsy. Polymicrogyric cortex is characterized by too many small convolutions. Often there are no intervening sulci, and almost no white matter can be seen under them. On MRI they appear to have increased thickness. Bilateral and symmetric polimycrogiria can be hard to recognize on standard MRIs. Accurate and automated methods for measuring the thickness of cerebral cortex are available. They have mainly been used to study a variety of disorders with diminished cortical thickness. We studied a case of right perisylvian polymicrogyria, who presented in adult life with epilepsy and had a normal neurological exam. Fischl and Dale's automated cortical thickness analysis rendered a very clear picture of increased cortical thickness with values up to 9 mm in the affected areas (normal cortical thickness varies between 1 and 4.5 mm). The thickest areas were seen over grossly abnormal gyri on the reconstructed cerebral cortex. On MEG he presented a prominent and monotonous 9 Hz activity that was located within the limits of a thick gyrus. There was a significant difference of thickness between homologous hemispheric areas. To our surprise some areas of the left hemisphere also appeared to have increased thickness, raising the question of a bilateral asymmetric case.

  9. Chediak-Higashi Syndrome: A Case Series from Karnataka, India.

    Science.gov (United States)

    Rudramurthy, Pradeep; Lokanatha, Hemalata

    2015-01-01

    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease, characterized by partial oculocutaneous albinism, frequent pyogenic infections, and the presence of abnormal large granules in leukocytes and other granulecontaining cells. The abnormal granules are readily seen in blood and marrow granulocytes. Other clinical features include silvery hair, photophobia, nystagmus and hepatosplenomegaly. However, the presence of abnormal giant intracytoplasmic granules in neutrophils and their precursors are diagnostic of CHS. Here, we present a series of five cases, out of which four presented in the accelerated phase. In all the five cases, the giant granules were noted predominantly in the cytoplasm of lymphocytes, which is a rare occurrence compared to those present in the granulocytes.

  10. Ellis-van Creveld syndrome: A case report

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    Shah B

    2008-05-01

    Full Text Available Ellis-van Creveld syndrome (EvC is a disease complex, where all the three embryonic layers appear to be involved. This disorder is also called as Chondroectodermal dysplasia. EvC is an autosomal recessive disorder resulting from mutations in these patients. Mutations in the two genes EVC and EVC2, have been identified to cause the condition. It has been considered as a skeletal dysplasia with an incidence of approximately 1 out of 1,50,000 live births. A high prevalence has been reported among certain populations like Amish and Arabs of Gaza strip. There are more than 300 cases of EvC reported into the literature. About 50-60% of cases have been reported with congenital cardiac malformations.

  11. Right subclavian double steal syndrome: a case report

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    Filis Konstantinos

    2008-12-01

    Full Text Available Abstract Introduction Double-steal syndrome represents a causative factor for blood flow compromise of the cerebral vascular bed with transient neurologic symptoms. We present the case of a patient with innominate artery atherosclerotic occlusion, manifested as blood flow reversal in the vertebral and common carotid arteries. Symptomatic atherosclerotic occlusive disease of the innominate artery is relatively rare and represents less than 2% of all extracranial causes of cerebrovascular insufficiency. Case presentation We report on a 73-year-old male patient who presented at our hospital for the evaluation of dizziness and episodes of syncope. Angiography and color Doppler examinations documented the double syndrome as retrograde flow in the right vertebral artery and the right carotid artery. Conclusion Constituting an indication for surgical correction, his condition was managed with the performance of carotid-carotid extra-anatomic bypass for the permanent reestablishment of antegrade blood flow in the vascular network supplying the brain. Carotid-carotid extra-anatomic bypass was a good option for our patient, since he remains symptom free after one year of follow up.

  12. INTUSSUSCEPTION IN A CASE OF PEUTZ JEGHER SYNDROME: A CASE REPORT

    OpenAIRE

    Manmadh Rao; Babji; Mahalakshmi D; Sankarao

    2015-01-01

    PeutzJegher syndrome is a rare disorder characterized by mucocutaneous melanin deposits over lips, oral mucosa, fingers and multiple hamartomatous polyps in gastrointestinal tract. These individuals may present with small intestinal intussusception with th ese polyp as lead point. We report a case of 15 year old boy presenting with intestinal obstruction with oral melanin deposits and found to have multiple hamartomatous polyps in small intestine

  13. Pediatric Nonfracture Acute Compartment Syndrome: A Review of 39 Cases.

    Science.gov (United States)

    Livingston, Kristin; Glotzbecker, Michael; Miller, Patricia E; Hresko, Michael T; Hedequist, Daniel; Shore, Benjamin J

    2016-01-01

    Compartment syndrome in the absence of fracture is rare and poorly described within the pediatric literature. The purpose of this study was to report the varying etiologies, risk factors, and treatment outcomes associated with pediatric nonfracture acute compartment syndrome (NFACS). We conducted a retrospective chart review on 37 children who suffered a NFACS and were treated at a single pediatric trauma center between 1997 and 2013. Demographic, diagnostic, treatment, and outcome characteristics were reviewed. Five causal groups were generated: trauma, exercise related (acute presentation after exercise without trauma), infectious, vascular, and postoperative (in the absence of osteotomy). Univariate and multivariate analyses were performed to identify risk factors of NFACS. P-values 39 cases of NFRCS in 37 children [6 females, 31 males, mean age of 11.7 y (SD+7.2 y)]. The leg was the most commonly involved limb (29 cases, 74%). Diagnosis of NFRCS was made either by compartment pressure monitoring [59%, 23/39 cases, mean pressure 66 mm Hg (SD+28)] or by clinical examination. According to etiology, vascular was most common (11/39, 28%), followed by trauma (10/39, 26%) and postoperative (8/39, 21%), with exertion and infection representing a small proportion (6/39, 15% and 4/39, 10%, respectively). Pain was present in 33 cases (85%), swelling in 28 cases (72%), paresthesias in 13 cases (33%), motor deficit in 12 cases (31%), and poor perfusion in 11 cases (28%). Average time from symptom onset to diagnosis was 48 hours (IQR, 9 to 96 h). At surgery, 21 patients (54%) had evidence of myonecrosis. Children required an average of 3 surgeries for wound closure. The median time to follow-up was 232 days (IQR, 73 to 608 d). A total of 54% made a full recovery, whereas 31% suffered a persistent neurological or functional deficit. NFACS in children is associated with a delay in diagnosis and a high rate of myonecrosis. Timely assessment with high clinical suspicion is

  14. Ross syndrome: A case report and review of cases from India

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    Manoj Kumar Agarwala

    2016-01-01

    Full Text Available Ross syndrome is a rare dysautonomia characterized by a clinical complex of segmental anhidrosis or hypohidrosis, areflexia, and tonic pupils. A very few cases (≃50 have been reported in literature since its original description in 1958. Here, we report the case of a middle-aged homemaker from Odisha, India, who presented with complaints of segmental hypohidrosis for the past 7 years.

  15. Right Hemithorax Empyema in a Known Case of Caroli Syndrome

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    R. Ebrahimian

    2015-10-01

    Full Text Available Introduction: Caroli disease is a rare congenital disorder characterized by segmental, nonob-structive dilatation of intrahepatic bile ducts. The term Caroli syndrome is used for the asso-ciation of Caroli disease with congenital hepatic fibrosis. Case Report: A 37 year old woman, a diagnosed case of Caroli syndrome, was admitted to hospital because of fever, cough and sputum. During the clinical examination and imaging, thoracic empyema and lung abscess was seen in the right hemithorax. Also, pneumobilia was seen in abdominal CT scan. Conclusion: Tube thoracostomy was done but lung did not expand. Therefore , right thora-cotomy was performed. Intraoperative finding was as fallows :because of biliary tract infec-tion and abccess formation the tracts were fistulated to the lung parenchyma and pleural space. Irrigation and drainage was performed. After 2 weeks the patient was discharged. He was being fallowed up for 1 year after the surgery and no serious problem was observed. (Sci J Hamadan Univ Med Sci 2015; 22 (3: 263-267

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

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    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.

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

    Science.gov (United States)

    Cebeci, Egemen; Demir, Secil; Gursu, Meltem; Sumnu, Abdullah; Yamak, Mehmet; Doner, Barıs; Karadag, Serhat; Uzun, Sami; Behlul, Ahmet; Ozkan, Oktay; Ozturk, Savas

    2015-01-01

    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. PMID:26000182

  18. [Analysis of a case series of workers with mobbing syndrome].

    Science.gov (United States)

    Marinoni, B; Minelli, C M; Franzina, B; Martellosio, V; Scafa, F; Giorgi, I; Mazzacane, F; Stancanelli, M; Mennoia, N V; Candura, S M

    2007-01-01

    Mobbing represents nowadays a major challenge for Occupational Medicine. We examined, during the last seven years, 253 patients who asked medical assistance for psychopathological problems by them ascribed to mobbing in the working environment. All patients underwent occupational health visit, psychological counselling (including personality tests administration), and psychiatric evaluation. A clinical picture probably due to mobbing was diagnosed in 37 workers: 2 cases of Post-Traumatic Stress Disorder (PTSD), 33 of Adjustment Disorder (AD), and 2 of anxiety disorder. Regarding mobbing typology, we found 19 cases of vertical mobbing (by an employer/manager to employees), 14 cases of strategic mobbing, 3 cases of horizontal mobbing (among colleagues), and one non intentional mobbing. In conclusion, a pure mobbing syndrome was diagnosed in a lower proportion than that reported by other investigators. The described interdisciplinary approach appears useful for the diagnostic assessment of suspect mobbing cases, that in turn is crucial for prognosis and treatment, as well as in relation to medico-legal issues and work-related compensation claims.

  19. A case of neuroleptic malignant syndrome following cardiac surgery

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    Atsushi Tamura

    2017-06-01

    Full Text Available Neuroleptic malignant syndrome (NMS is rare but sometimes causes life-threatening conditions. We report the case of a 53-year-old male patient who developed NMS following cardiac surgery. He was diagnosed with schizophrenia and pre- scribed blonanserin, chlorpromazine, and biperiden. From postoperative day 3, hyperthermia, disturbed consciousness, and involuntary movement were observed. Subsequently, his serum creatine phosphokinase (CPK levels increased. After NMS was suspected, chlorpromazine and biperiden were stopped. From postoperative day 7, intravenous administration of dant- rolene was initiated. Following this treatment, his serum CPK levels gradually decreased, and the other symptoms improved. The treatment of NMS remains controversial. There is no evidence that dantrolene is effective for treating NMS; however, it may be one of the important options for treating NMS. We present the case and discuss the diagnosis and management of NMS following cardiac surgery. [Arch Clin Exp Surg 2017; 6(2.000: 117-119

  20. Paracetamol induced Steven-Johnson syndrome: A rare case report.

    Science.gov (United States)

    Rajput, Rajan; Sagari, Shitalkumar; Durgavanshi, Astha; Kanwar, Alpana

    2015-09-01

    In the contemporary era, use of drugs is the dominant paradigm of health care. The most quotidian drug used for fever and pain is paracetamol. Although adverse reactions to paracetamol in India are rare, at times they can cause life-threatening situations. Stevens-Johnson syndrome (SJS) is one such potentially lethal adverse drug reaction. The most reported cases of analgesic-induced SJS were due to oxicams or propionic acid derivatives. There are very few detailed reports of SJS due to the use of paracetamol. We report a case of SJS, which occurred due to the use of paracetamol. The clinical features of this condition and multidisciplinary management of the patient are described in brief.

  1. Paracetamol induced Steven-Johnson syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    Rajan Rajput

    2015-01-01

    Full Text Available In the contemporary era, use of drugs is the dominant paradigm of health care. The most quotidian drug used for fever and pain is paracetamol. Although adverse reactions to paracetamol in India are rare, at times they can cause life-threatening situations. Stevens-Johnson syndrome (SJS is one such potentially lethal adverse drug reaction. The most reported cases of analgesic-induced SJS were due to oxicams or propionic acid derivatives. There are very few detailed reports of SJS due to the use of paracetamol. We report a case of SJS, which occurred due to the use of paracetamol. The clinical features of this condition and multidisciplinary management of the patient are described in brief.

  2. Multiple Intussusceptions as Primary Manifestation of Peutz-Jeghers Syndrome: Report of a Case

    OpenAIRE

    Ahmad Amouzeshi; Mohammad-Reza Motie; Ali Najib Jalali

    2009-01-01

    Background: Peutz-Jeghers syndrome is a rare hereditary disorder characterized by hamartomatous polyps in the gastrointestinal tract and typical pigment lesions. It is a rare cause of multiple intussusceptions. Previous studies on Peutz-Jeghers syndrome reported only one case of multiple intussusceptions. We describe a case of appendiceal and multiple small intestine intussusceptions presenting as peritonitis in a patient with Peutz-Jeghers syndrome. Case Presentation:A 17-year-old girl prese...

  3. Nance-Horan Syndrome: A Rare Case Report.

    Science.gov (United States)

    Sharma, Shambhu; Datta, Pankaj; Sabharwal, Janak Raj; Datta, Sonia

    2017-01-01

    Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance-Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors. Heterozygous females inherit this disease and also suffer from this syndrome but in a milder form. Approximately one-third of the affected males show signs of developmental delay and intellectual abnormalities. This syndrome is very rare and the incidence of the disease has not been established so far. The present article describes the clinical and radiological features and the genetic implications of this syndrome.

  4. Nance–Horan syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    Shambhu Sharma

    2017-01-01

    Full Text Available Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance–Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors. Heterozygous females inherit this disease and also suffer from this syndrome but in a milder form. Approximately one-third of the affected males show signs of developmental delay and intellectual abnormalities. This syndrome is very rare and the incidence of the disease has not been established so far. The present article describes the clinical and radiological features and the genetic implications of this syndrome.

  5. Nance–Horan Syndrome: A Rare Case Report

    OpenAIRE

    Sharma, Shambhu; Datta, Pankaj; Sabharwal, Janak Raj; Datta, Sonia

    2017-01-01

    Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance–Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, mi...

  6. Like Father, Like Daughter-inherited cutis aplasia occurring in a family with Marfan syndrome: a case report.

    Science.gov (United States)

    Islam, Yasmin Florence Khodeja; Williams, Charles A; Schoch, Jennifer Jane; Andrews, Israel David

    2017-01-01

    We present the case of a newborn with co-occurrence of Marfan syndrome and aplasia cutis congenita (ACC) and a family history significant for Marfan syndrome and ACC in the father. This case details a previously unreported mutation in Marfan syndrome and describes a novel coinheritance of Marfan syndrome and ACC.

  7. Acute Pancreatitis and Posterior Reversible Encephalopathy Syndrome: A Case Report.

    Science.gov (United States)

    Magno Pereira, Vítor; Marote Correia, Luís; Rodrigues, Tiago; Serrão Faria, Gorete

    2016-09-01

    The posterior reversible encephalopathy syndrome is a neurological syndrome characterized by headache, confusion, visual disturbances and seizures associated with identifiable areas of cerebral edema on imaging studies. The authors report the case of a man, 33 years-old, leukodermic with a history of chronic alcohol and tobacco consumption, who is admitted to the emergency department for epigastric pain radiating to the back and vomiting with about six hours of evolution and an intense holocranial headache for two hours. His physical examination was remarkable for a blood pressure of 190/100 mmHg and tenderness in epigastrium. His analytical results revealed emphasis on amylase 193 U/L and lipase 934 U/L. During the observation in the emergency department,he presented a generalized tonic-clonic seizure. Abdominal ultrasonography was performed and suggestive of pancreatitis withoutgallstones signals. Head computed tomography showed subarachnoid haemorrhage and a small right frontal cortical haemorrhage. The brain magnetic resonance imaging done one week after admission showed areas of a bilateral and symmetrical T2 / FLAIR hyperintensities in the subcortical white matter of the parietal and superior frontal regions, suggesting a diagnosis of posterior reversible encephalopathy syndrome. Abdominal computed tomography (10 days after admission) demonstrated a thickened pancreas in connection with inflammation and two small hypodense foci in the anterior part of the pancreas body, translating small foci of necrosis. The investigation of a thrombophilic defect revealed a heterozygous G20210A prothrombin gene mutation. The patient was discharged without neurological sequelae and asymptomatic. The follow-up brain magnetic resonance imaging confirmed the reversal of the lesions, confirming the diagnosis.

  8. Double Cortex Syndrome (Subcortical Band Heterotopia): A Case Report.

    Science.gov (United States)

    Momen, Ali Akbar; Momen, Mehdi

    2015-01-01

    Objective Approximately 5-10% of preschool age children are considered developmentally disabled. Brain Magnetic Resonance Imaging (MRI) plays a key role in the diagnostic evaluation in these children. Many congenital or acquired brain anomalies are revealed with MRIs. Although the majority of these abnormalities are sporadic but patients with subcortical band heterotopia or double cortex syndrome have sex-linked inheritance. We are going to present the first case in Iran from Ahvaz city, which was presented with status epilepticus associated with developmental delay and finally diagnosed as double cortex syndrome, because band heterotopia cases especially for continuous or generalized form is rare. A 4.5-year-old developmentally delayed girl was admitted for generalized tonic clonic seizure attack of 1 hr, upward gaze, locked mouth, and urinary incontinence (status epilepticus) in the child neurology ward. She had a history of recurrent seizures that started as febrile seizures since she was 12 months of age and had frequent admissions for having recurrent seizure attacks. She was the only child of consanguineous parents with negative family history of any neurologic problems. She was a product of uneventful term pregnancy, vaginal delivery with a low Apgar score at birth who was admitted for six days in the neonatal ward for hypotonia and cyanosis. At 4.5 years of age, she had HC: 45cm (spike-wave discharges. A brain MRI showed corpus callosal dysplasia, generalized band heterotopia, and polymicrogyria. She was discharged home with oral valproate and regular outpatient follow-ups. In the diagnostic evaluation of developmentally delayed and epileptic children, a brain MRI is strongly recommended for accurate diagnosis of anomalies such as neuronal migration disorders (band heterotopia) and others, because appropriate therapeutic management, prognosis, prevention, and genetic counseling for prenatal diagnosis are dependent on definite diagnosis of the proband case.

  9. Ellis–Van Creveld syndrome in siblings: A rare case report

    Directory of Open Access Journals (Sweden)

    Sabitha Gokulraj

    2016-01-01

    Full Text Available Ellis–Van Creveld syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder presenting several skeletal manifestations and congenital heart malformations. Ellis–Van Creveld syndrome comprises of a tetrad of clinical manifestations of chondrodysplasia, polydactyly, ectodermal dysplasia, and cardiac defects. Here, we are presenting a very rare case of Ellis–Van Creveld syndrome in siblings.

  10. A case of aortitis syndrome diagnosed by digital subtraction angiography

    International Nuclear Information System (INIS)

    Tamaki, Atsushi; Sakai, Masashi; Yano, Kimio

    1984-01-01

    A 45-year-old female was admitted to our hospital with complaints of anemia, hypertension, and a dull, throbbing pain in the right side of the neck. On physical examination, a pulsating tumor in the right side of the neck and a ''to-and-fro'' murmur at the right 2nd intercostal space were noted. Laboratory tests revealed ESR 90 mm/hour and CRP 5+. Digital subtraction angiography (DSA) showed an aneurysm distal to the narrowing of the right common carotid artery, in addition to winding and narrowing of the right vertebral and the left common carotid arteries. These findings are typical of Type I aortitis syndrome. Aortogram showed aortic regurgitation (AR). Furthermore, we found the presence of HLA Bw52 and a conspicuous increase of tromboxane B 2 . Treatment involving a combination of prednisolone, azathioprine and estriol was effective, resulting in marked improvement of the patient's general condition as well as laboratory test results. In cases of aortitis syndrome combined with an aneurysm of a large artery and AR, direct opacification of the aorta with a catheter is occasionally hazardous and is difficult to perform repeatedly. DSA is useful in such circumstances because it can be performed repeatedly with little risk and it offers an image as clear as these obtained by direct injection of contrast medium in the aorta. (author)

  11. Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report.

    Science.gov (United States)

    Saldarriaga, Wilmar; Ruiz, Fabian Andres; Tassone, Flora; Hagerman, Randi

    2017-09-01

    Down syndrome (DS) and Fragile X syndrome (FXS) are the major genetic causes of intellectual disabilities. Here, we present a case of a 32-year-old woman with the diagnosis of both FXS and DS. She is the daughter of a 47-year-old pre-mutation woman who also has three sons with FXS. Cytogenetic testing detected the presence of a complete trisomy 21. A combination of PCR and Southern blot analysis was utilized to document the presence of the FMR1 full mutation. The patient has physical characteristics and behavioural disturbances typical of both FXS and DS, which were confirmed by molecular testing. Her treatment plan included a trial of sertraline because of the severity of her shyness and lack of language. She had an excellent response to sertraline with improvement in shyness and social interactions, particularly with family members. In this study, we report the case of a woman with both FXS and DS, which is the fifth case of FXS and DS in the world's literature. The patient is from Ricaurte, a small town in Colombia, South America, where there is the world's highest prevalence for FXS. © 2016 John Wiley & Sons Ltd.

  12. Prader-Willi Syndrome: A Case Study and Parent Perspective.

    Science.gov (United States)

    Glaspy, Erin; Foge, Julie

    2015-08-01

    Having a newborn diagnosed with a rare disorder is fraught with many challenges and opportunities for families and healthcare providers alike. This article presents one mother's journey through the daily blessings and challenges of having a child with a rare disorder. Storytelling and reflection interwoven with a case presentation. Prader-Willi syndrome can be a diagnosis that is missed in the immediate postpartum period. Careful assessment and evaluation of the infant is needed. Attention to detail will support an accurate and timely diagnosis. Those involved in the care of infants in the neonatal intensive care unit with special needs owing to a rare disorder must guide families through the difficult process of establishing a diagnosis and coping with the short- and long-term implications of that diagnosis. Research about the needs of families with children with rare diseases is sorely needed. Finding strategies to best support these families is an area of great need.

  13. Staphylococcal scalded skin syndrome in a 4-year-old child: a case report.

    Science.gov (United States)

    Haasnoot, P J; De Vries, A

    2018-01-29

    Staphylococcal scalded skin syndrome is an exfoliating skin disease which primarily affects children. Differential diagnosis includes toxic epidermal necrolysis, staphylococcal scalded skin syndrome, epidermolysis bullosa, and Stevens-Johnson syndrome. Staphylococcal scalded skin syndrome primarily affects children and can cause serious morbidity. In this case report we highlight the case of a 4-year-old Caucasian boy. Diagnostic and therapeutic challenges are discussed. Differential diagnoses are considered and therapy is described and discussed. The latest treatment options are used and described. Successful results are achieved in this case due to timely and correct management. Some therapeutic options are widely used without thorough research bases. This case report highlights staphylococcal scalded skin syndrome and its treatment, and future challenges. Further research is warranted and this case report aims to further research in exfoliating skin disorders.

  14. 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.

  15. [WHIM syndrome: a case report and literature review].

    Science.gov (United States)

    Chen, Xiao-juan; Yang, Wen-yu; Wang, Shu-chun; Guo, Ye; Liu, Fang; Qi, Ben-quan; Chang, Li-xian; Zhou, Jian-feng; An, Wen-bin; Wei, Wei; Wan, Yang; Zhu, Xiao-fan

    2013-03-01

    To study the clinical and laboratory characteristics of cases with warts, hypogammaglobulinemia, infections and myelokathexis (WHIM) syndrome. An 11-year-old boy was diagnosed as WHIM syndrome and CXCR4 gene mutation analysis was performed. Since 3 years of age, the patient had recurrent fever and persistent cough. Since 6 years of age, he had warts on his fingers, the warts increased gradually. His complete blood count showed: white blood cell (WBC) 0.65×10(9)/L, neutrophil 0.15×10(9)/L, hemoglobin 116 g/L, platelet 200×10(9)/L, reticulocyte 0.62%. Results of serum biochemical tests: total protein (TP) 72.2 g/L (reference value 60 - 80 g/L), albumin 20.4 g/L (reference value 20 - 35 g/L), gammaglobulin 20.4 g/L (reference value 20 - 35 g/L). IgG 5.56 g/L (reference value 7.51 - 15.6 g/L), IgA 0.48 g/L (reference value 0.82 - 4.53 g/L), IgM 0.29 g/L (reference value 0.46 - 3.04 g/L). Peripheral blood lymphocyte subsets: CD3(+)T lymphocyte 43.6% (reference value 64.01% - 75.95%), CD19(+)B lymphocyte 1.00% (reference value 9.02% - 14.1%). Bone marrow smears showed that many of the neutrophils had a reactive appearance, with cytoplasmic vacuolation. Most neutrophils had hypersegmentation with four or five nuclear lobules. In some cells, the filaments connecting the nuclear lobes were long. CXCR4 mutation was detected. WHIM syndrome is a rare immunodeficiency disorder with an autosomal-dominant pattern of inheritance. The disease is less progressive, and may accompany the patients' whole life.

  16. Beckwith–Wiedemann syndrome (BWS): A case report and literature ...

    African Journals Online (AJOL)

    Beckwith-Wiedemann Syndrome (BWS), also known as the EMG (Exomphalos, Macroglossia, Gigantism) syndrome was recognised independently by Beckwith in 1963 and Wiedemann in 1964 and is now a well established entity having been reported in more than two hundred individuals1,2,3. It constitutes a wide ...

  17. Kindler′s syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    Neelam Suman

    2014-01-01

    Full Text Available Kindler syndrome is a rare hereditary disorder, associated with skin fragility. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes a 16-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma.

  18. Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report

    Directory of Open Access Journals (Sweden)

    Ana Rosa Rincón-Sánchez

    2012-04-01

    Full Text Available Ehlers-Danlos syndrome (EDS is a heterogeneous group of heritable connective tissue disorders whose primary clinical features include soft and extensible skin, articular hypermobility and tissue fragility. EDS type VIIC or ‘human dermatosparaxis’ is an autosomal recessive disease characterized by severe skin fragility and sagging redundant skin (major criteria with a soft, doughy texture, easy bruising, premature rupture of fetal membranes and large hernias (minor criteria. Dermatosparaxis (meaning ‘tearing of skin’, which has been described in several non-human species, is a disorder of the connective tissue resulting from a deficiency of the enzyme that cleaves the registration peptide off the N-terminal end of collagen after it has been secreted from fibroblasts. We describe a Mexican case from consanguineous parents with all the phenotypical characteristics previously described, plus skeletal abnormalities.

  19. Oxcarbazepine-induced Stevens-Johnson Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Lung-Chang Lin

    2009-02-01

    Full Text Available Although carbamazepine (CBZ is the most common cause of Stevens-Johnson syndrome (SJS, a new anticonvulsant, oxcarbazepine, which is structurally related to carbamazepine, has been shown to induce SJS, although extremely rarely. Recently, a strong association was found between human leukocyte antigen (HLA B*1502 and CBZ-induced SJS/TEN in a Han Chinese population. Here, we report a case with SJS, which was induced by oxcarbazepine. HLA genotyping in the patient showed HLA-B*1518/B*4001. HLA-B*1518 is a HLA-B15 variant. The genetic significance of HLA-B*1518 in association with oxcarbazepine-induced SJS needs to be further studied.

  20. [A case of acquired immunodeficiency syndrome with ileocecal ulcer].

    Science.gov (United States)

    Iwasaki, Tetsuyoshi; Saruta, Masayuki; Sawada, Ryoichi; Ide, Daisuke; Arihiro, Seiji; Matsuoka, Mika; Katoh, Tomohiro; Tajiri, Hisao

    2015-10-01

    We report a case of a patient with acquired immunodeficiency syndrome (AIDS) and ileocecal ulcer. A 31-year-old man was admitted with chief complaints of decreased body weight and abdominal pain. Colonoscopy revealed a round punched-out ulcer on the ileocecal valve. Initially, we suspected entero-Behçet's disease and simple ulcer as the cause of the ileocecal ulcer. However, after histologic examination of tissue biopsies obtained during colonoscopy, we diagnosed the patient as having cytomegalovirus (CMV) enteritis. Based on the patient's white blood cell depletion and CMV enteritis, we performed a human immunodeficiency virus (HIV) antibody test. The test was positive, and the diagnosis of AIDS was established. The number of patients with AIDS has been increasing in Japan; thus, we should consider the possibility of CMV enteritis and AIDS in young adult patients affected by ileocecal ulcer with no notable history.

  1. Cerebral venous thrombosis and secondary polycythemia in a case of nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Shankar Prasad Nagaraju

    2016-01-01

    Full Text Available Cerebral venous thrombosis (CVT and polycythemia are considered as rare and life threatening complications of nephrotic syndrome. We report an unusual combination of both these complications in a case of nephrotic syndrome due to minimal change disease that was treated successfully. There was prompt and complete remission of nephrotic syndrome with steroid therapy, concurrent with complete resolution of polycythemia and CVT.

  2. A Rare Case of Noninsulinoma Pancreatogenous Hypoglycemia Syndrome

    Directory of Open Access Journals (Sweden)

    Jeffrey Nadelson

    2012-01-01

    Full Text Available As the obesity pandemic continues to worsen and medical interventions remain only moderately effective, bariatric surgery remains an important option for patients. In certain instances, patients who have undergone the procedure experience postprandial symptoms of neuroglycopenia caused by noninsulinoma pancreatogenous hypoglycemia syndrome (NIPHS. NIPHS is a recently described syndrome and is also very rare, and therapeutic approaches are still under debate. We report the case of a 51-year-old female who underwent Roux-en-Y gastric bypass and presented with episodic postprandial hypoglycemia 2 years after surgery. An insulinoma was absent from all abdominal imaging. Fasting C-peptide, insulin, and glucose were normal. Due to the possibility of NIPHS, clinical treatment was commenced with acarbose, leading to a significant reduction of hypoglycemic episodes. NIPHS occurs in approximately 0.5% to 7% of patients with hyperinsulinemic hypoglycemia. Sporadic hypoglycemia postgastric bypass is an important entity that should be understood by all surgeons and internists who are involved in postgastric bypass care.

  3. Non-Syndromic Recurrent Multiple Odontogenic Keratocysts: A Case Report

    Directory of Open Access Journals (Sweden)

    S. Prabhu

    2011-06-01

    Full Text Available Odontogenic keratocysts (OKCs are one of the most frequent features of nevoid basal cell carcinoma syndrome (NBS. It is linked with mutation in the PTCH gene. Partial expression of the gene may result in occurrence of only multiple recurring OKC. Our patient presentedwith nine cysts with multiple recurrences over a period of 11 years without any other manifestation of the syndrome.

  4. A Case of Cushing’s Syndrome in Pregnancy

    Directory of Open Access Journals (Sweden)

    Leila Pourali

    2017-11-01

    Full Text Available Cushing’s syndrome (CS occurs rarely during pregnancy. CS can be caused by prolonged abnormal exposure to excess glucocorticoids leading to special and significant signs and symptoms. It is often difficult to diagnose pathological hypercortisolism in pregnant women since some symptoms of the disease might be due to a complicated pregnancy, including preeclampsia or gestational diabetes. In this study, we report the case of a 29-year-old female who referred to our institution with hypertension, weakness, steria, and truncal obesity. Physical examination revealed cushingoid characteristic. She was also found to be 27 weeks pregnant. CS was diagnosed on the basis of abnormal serum cortisol and adrenocorticotropin hormone (ACTH levels, as well as radiologic findings. She eventually gave birth to a preterm infant via vaginal delivery. A right adrenal adenoma was diagnosed and was subsequently treated with surgical resection. The patient’s condition remained stable after the surgery.

  5. Portal, Splenic and Mesenteric Thrombosis in Hypereosinophilic Syndrome: A Case Report

    International Nuclear Information System (INIS)

    Hwang, Su Yeon; Jang, Kyung Mi; Kim, Min Jeong; Lee, Kwan Seop; Koh, Sung Hye; Jeon, Eui Yong; Lee, Hyun; Choi, Ju Hyun; Yie, Mi Yeon

    2009-01-01

    Idiopathic hypereosinophilic syndrome is a spectrum of diseases characterized by prominent peripheral eosinophilic leukocytosis without an identifiable cause. Several reports have described hepatic involvement as depicted on sonography and CT imaging in patients with hypereosinophilic syndrome. However, thrombosis of the portal, splenic and mesenteric veins in hypereosinophilic syndrome has been rarely reported. We present here a case of portal, splenic and mesenteric thrombosis in a 33-year-old man with hypereosinophilic syndrome

  6. Portal, Splenic and Mesenteric Thrombosis in Hypereosinophilic Syndrome: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Hwang, Su Yeon; Jang, Kyung Mi; Kim, Min Jeong; Lee, Kwan Seop; Koh, Sung Hye; Jeon, Eui Yong; Lee, Hyun; Choi, Ju Hyun; Yie, Mi Yeon [Hallym University, Chuncheon (Korea, Republic of)

    2009-07-15

    Idiopathic hypereosinophilic syndrome is a spectrum of diseases characterized by prominent peripheral eosinophilic leukocytosis without an identifiable cause. Several reports have described hepatic involvement as depicted on sonography and CT imaging in patients with hypereosinophilic syndrome. However, thrombosis of the portal, splenic and mesenteric veins in hypereosinophilic syndrome has been rarely reported. We present here a case of portal, splenic and mesenteric thrombosis in a 33-year-old man with hypereosinophilic syndrome.

  7. Pathological gambling plus hypersexuality in restless legs syndrome: a new case.

    Science.gov (United States)

    d'Orsi, Giuseppe; Demaio, Vincenzo; Specchio, L M

    2011-08-01

    Emerging clinical data indicate that dopaminergic agonists used to treat restless legs syndrome may be associated with dopamine dysregulation syndrome, particularly pathological gambling. We report a new case with pathological gambling plus hypersexuality and impotence in an old patient treated with a small dose (0.18 mg daily at bedtime) of pramipexole for restless legs syndrome for 5 months. The time relationship and the resolution upon discontinuation of dopaminergic agonists suggest a causative association. Our new case confirms that restless legs syndrome patients should be cautioned about potential dopamine dysregulation syndrome coinciding with dopaminergic agonists, as it can be reversed by drug withdrawal.

  8. A case of progeria syndrome treated as VIP patient

    Directory of Open Access Journals (Sweden)

    Seema Mahant, Mahant PD, C.M. Reddy

    2014-11-01

    Full Text Available Progeria is rare autosomal recessive genetic disease with an incidence of about one in eight million. He was 16 years old boy lying on the couch. He was short stature thin with minimal subcutaneous tissue, skin was thin and fragile with loss of hair over scalp, eyebrows and eyelashes, and his face was dismorphic with prominent eyes, beaked nose, small jaw and large cranium with visible veins over it. His voice was thin and high pitched. Overall, this gives them an extremely aged nearly 70 -80 years old man look. The patient was a known case of progeria syndrome and he was treated as a VIP patient by all faculty members and staff, though he belongs low socioeconomic status, no political issue with them. But still he was a VIP.

  9. Marfan Syndrome in an Iranian Family: A Case Series

    Directory of Open Access Journals (Sweden)

    Mohammad Hossein Davari

    2015-07-01

    Full Text Available Marfan syndrome (MFS is a genetic disorder which is inherited by autosomal dominant traits. In MFS, lens displacement and cardiovascular involvement are important causes of morbidity and mortality in the clinical course of the disease. In this case study, the ocular involvement in a family with severe penetration of MFS is reported. Twelve members of a family (father, two daughters, three sons, and six grandchildren had MFS. Lens ectopia was the most common ophthalmic involvement among the family (100%. Other ocular involvements were as follows; Hypoplastic iris or ciliary’s muscle hypoplasia (50%, on gated eyeball (42%, flat cornea (30%, glaucoma and cataract (25%, retinal detachment (16%. Three members of the family underwent eye surgery including lens extraction, glaucoma surgery and retinal surgery.

  10. A case of Ramsay Hunt syndrome diagnosed after kidney transplantation

    Directory of Open Access Journals (Sweden)

    Yoo Min Park

    2015-12-01

    Full Text Available We report the first case of Ramsay Hunt syndrome (RHS diagnosed after kidney transplantation in Korea. RHS is a disease caused by latent varicella-zoster characterized to involve geniculate ganglion of the seventh cranial nerve. Patients who have undergone kidney transplantation can be easily affected by viral infections because of their immune-compromised status. A 35-year-old man with hypertensive end-stage renal disease underwent kidney transplantation. Two months after surgery, the recipient was diagnosed with RHS and treated with antivirals and steroids. However, after using the antiviral agents for the recommended duration, facial paralysis occurred as a new presentation and he required further treatment. Otalgia and periauricular vesicles improved, but the facial palsy remained.

  11. Anisometropic amblyopia in a case of type 2 Waardenburg syndrome.

    Science.gov (United States)

    Akal, Ali; Göncü, Tugba; Boyaci, Nurefsan; Yılmaz, Ömer Faruk

    2013-12-18

    This study presents a case of an 8-year-old boy with iris heterochromia and anisometropic amblyopia who was diagnosed with Waardenburg syndrome (WS) type 2. An ophthalmic examination revealed iris heterochromia and anisometropic amblyopia in our patient. In the systemic examination, a white forelock and vitiligo on the arms and body were observed and neurosensory hearing loss was revealed, for which the patient used hearing aids. Identification and typing of patients with WS is crucial to address neurosensory hearing loss, glaucoma and fundus changes. While it might be challenging to communicate with a patient with speech and hearing problems, visual acuity should be examined carefully and probable amblyopia should be identified. Anterior segment changes and signs of glaucoma should also be evaluated in detail.

  12. A case report of Factitious Disorder (Munchausen Syndrome by proxy

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    Mehdi Shirzadifar

    2014-09-01

    Full Text Available Background: In Factitious Disorder by proxy, one person (perpetrator induces the disease in another person, thereby seeking emotional needs during the treatment process Diagnosis of this disorder is very difficult and there is not much consensus over it among experts. Lack of timely diagnosis of this disorder may lead to serious harms in patients. Case presentation: We will introduce a 19 year-old boy with mental retardation and history of multiple admissions to psychiatric, internal, urology and surgery wards. He has a 12 year-old sister and a 4 year-old brother, both with history of multiple admissions to pediatrics and internal wards. The father of family was 48 years old with chronic mental disorder, drug dependency and history of multiple admissions to medical, psychiatry and neurology wards. The mother of this family was diagnosed with munchausen syndrome by proxy.

  13. Idiopathic hypereosinophilic syndrome associated with rheumatoid arthritis A case report

    Directory of Open Access Journals (Sweden)

    P. Quattrocchi

    2011-09-01

    Full Text Available The idiopathic hypereosinophilic sindrome (HES is a disease characterized by persistent blood eosinophilia (> 1500 eosinophils/mm3 > 6 months-in absence of other ethiologies for eosinophilia (parasitic, allergic, immunological or malignant diseases-associated with multiple organ involvement (heart, lung, central nervous system, skin, bone marrow, gastrointestinal tract. Reports on rheumatologic manifestations in patients with HES are very rare. In the case we report a typical rheumatoid arthritis developed in a 58-year-old woman with HES treated with glucocorticoids. Because of the marked glucocorticoids side effects shown by the patient(cushingoid habitus, hyperglycemia, we stopped this treatment and replaced it at first by methotrexate and later by cyclosporin, both of them associated with sulfasalazine. These drugs revealed very efficacious both on articular pathology and on the clinical and laboratory manifestations of HES. These data suggest that common pathogenetic mechanisms are likely acting in rheumatoid arthritis and idiopathic hypereosinophilic syndrome.

  14. Antipsychotic Drugs Rechallenge in Multi-antipsychotic Drug Induced Atypical Neuroleptic Malignant Syndrome: A Case of Cotard’s Syndrome

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    Helin Yılmaz

    2017-03-01

    Full Text Available Neuroleptic malignant syndrome (NMS is an uncommon but potentially fatal idiosyncratic reaction to neuroleptics and characterized by a distinctive clinical syndrome of mental status change, rigidity, fever, and dysautonomia. Cotard’s syndrome is characterized by the appearance of nihilistic delusions concerning one’s own body or life. By presenting this case, we aim to discuss the differential diagnosis and treatment plan of a patient with catatonia and Cotard’s syndrome, which were noted after NMS, in light of the literature.

  15. Muir-Torre syndrome: a case report and review of the literature.

    Science.gov (United States)

    Okan, Gökhan; Vural, Pervin; Ince, Ümit; Yazar, Aziz; Uras, Cihan; Saruç, Murat

    2012-08-01

    Muir-Torre syndrome is a rare autosomal dominant genodermatosis characterized by the occurrence of sebaceous gland neoplasm associated with visceral malignancies. Most patients present with sebaceous adenomas, but cystic sebaceous neoplasms have been reported as specific markers of the syndrome. Gastrointestinal and genitourinary cancers are the most common internal malignancies. Colorectal cancer is the commonest visceral neoplasm in Muir-Torre syndrome patients. In this case report, we describe a rare case of Muir-Torre syndrome associated with colon cancer, and we demonstrate the important role of the dermatopathologist in alerting the clinician to the possibility of Muir-Torre syndrome when the diagnosis of sebaceous neoplasm is made.

  16. Non-syndrome associated multiple supernumerary teeth: A report of two cases

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    Nayak Ullal

    2006-05-01

    Full Text Available Multiple supernumerary teeth are usually associated with syndromes. On the contrary, multiple supernumerary teeth without association with any syndromes are very rare. This article presents a report of two cases with multiple supernumerary teeth not associated with any syndrome and emphasizes the routine advice of orthopantomogram whenever a single supernumerary tooth is detected irrespective of whether the patient has any syndrome or not.

  17. Progressive Supranuclear Palsy-like Syndrome After Aortic Aneurysm Repair: A Case Series

    Directory of Open Access Journals (Sweden)

    Sirisha Nandipati

    2013-12-01

    Full Text Available The syndrome of progressive supranuclear palsy‐like syndrome is a rare complication of ascending aortic aneurysm repair. We report two patients with videos and present a table of prior reported cases. To our knowledge there is no previously published video of this syndrome. The suspected mechanism is brainstem injury though neuroimaging is often negative for an associated infarct. We hope our report will increase recognition of this syndrome after aortic surgery, especially in patients with visual complaints.

  18. Strontium ranelate related Stevens-Johnson syndrome: a case report.

    Science.gov (United States)

    Yang, C-Y; Chen, C-H; Wang, H-Y; Hsiao, H-L; Hsiao, Y-H; Chung, W-H

    2014-06-01

    Strontium ranelate is a relatively new medication with good safety profile for the treatment of postmenopausal osteoporosis. However, severe cutaneous adverse drug reactions have been reported, such as drug rash with eosinophilia and systemic symptoms (DRESS), Stevens-Johnson syndrome (SJS), and toxic epidermal necrolysis (TEN). We report the case of a 70-year-old woman who developed multiple itching erythematous macules and plaques about 1 month after beginning strontium ranelate medication. The cutaneous lesions progressed over the entire body with severe oral and ocular mucosa involvement. Probable mild SJS was diagnosed, compatible with the pathology findings, and strontium ranelate was discontinued immediately. Systemic methylprednisolone was administered to suppress the overactive immune system and ameliorate cutaneous symptoms. With early recognition and prompt treatment, the patient's prognosis was good.

  19. GITELMAN SYNDROME AND PREGNANCY- A RARE CASE REPORT

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    Venkatachalam Sibiya

    2017-09-01

    Full Text Available PRESENTATION OF CASE A 22 years old G2 P1 D1 came with complaints of shivering of both upper limb and lower limb. She was diagnosed with Gitelman syndrome in previous pregnancy. Previous was a preterm delivery due to polyhydramnios and the baby died at 12 days of life due to some congenital malformation of heart. In previous pregnancy, patient presented with paralysis at 6 months of gestation and was treated conservatively by correcting the electrolytes level. In the present pregnancy, patient had persistent hypokalaemia and hypomagnesaemia, which was treated. Anomaly scan was done. No gross anomaly was detected. Patient is symptomatically better and she is continuing her pregnancy, hope better outcome since GS has no adverse effect on pregnancy.

  20. Anorexia Nervosa and Refeeding Syndrome. A Case Report

    Directory of Open Access Journals (Sweden)

    Kohji Azumagawa

    2007-01-01

    Full Text Available This is a case story of a 14-year-old girl with severe anorexia nervosa (AN (158 cm, 28 kg, –44.1% ideal body mass index, admitted with purpura, edema, and general fatigue. We treated her carefully and paid particular attention to prevent development of refeeding syndrome (RS, and her body weight increased satisfactorily. However, RS (edema, hypoalbuminemia, and heart failure occurred despite careful treatment. We used albumin and diuretics for treatment of RS, but severe liver damage resulted. RS was aggravated by the medical treatment. More attention should have been paid to her weight gain and medical treatment should have been initiated more slowly to prevent dramatic changes in the patient's fluid and electrolyte status.

  1. Acute myeloblastic leukemia-associated Marfan syndrome and Davidoff-Dyke-Masson syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Ahmet Faik Öner

    2008-12-01

    Full Text Available We present herein a 23-year-old man with acute myeloblastic leukemia (AML associated with Davidoff-Dyke-Masson syndrome (DDMS and Marfan syndrome (MS. The diagnosis of DDMS was based on findings including left facial asymmetry, left hemiparesis, mental retardation, right cerebral hemiatrophy, dilatation of the ipsilateral lateral ventricle and calvarial thickening. The diagnosis of MS was based on clinical findings including tall stature, myopia, retinitis pigmentosa, blue scleras, scoliosis, pectus excavatum, arachnodactyly and low ratio of upper/lower body segment. The patient developed hepatosplenomegaly, gingival hypertrophy and pancytopenia. Peripheral blood film and bone marrow examination showed that most of nucleated cells were blasts; immunophenotype of those cells showed CD11+, CD13+, CD14+, CD33+ and HLA-DR+. These findings confirmed the diagnosis of AML (FAB-M5. After induction chemotherapy, remission was obtained. To the best of our knowledge, our case is the third report of AML in MS syndrome, while AML associated with DDMS and MS has not been previously reported in the literature.

  2. De Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Mihai Cristina

    2009-11-01

    Full Text Available Abstract Introduction Kearns-Sayre syndrome is a mitochondrial myopathy that demonstrates chronic progressive ophthalmoplegia with onset before the age of 20 and pigmentary degeneration of the retina. Case presentation We report the case of an 18-year-old Romanian man with short stature, external ophthalmoplegia, palpebral ptosis, myopathy, sensorineural hearing impairment, cerebellar ataxia, cardiac conduction defect, diabetes mellitus, hypoparathyroidism and hyperaldosteronism. The patient's evolution showed progressive insufficiency of the renal tubule: hyperphosphaturia, hyperaminoaciduria and, later, glucosuria (de Toni-Debré-Fanconi syndrome, a syndrome, to date, rarely diagnosed in association with complete Kearns-Sayre syndrome. The final diagnosis was delayed for several years and was only established when he developed diabetes mellitus. Southern blot analysis and polymerase chain reaction amplification revealed the presence of a deletion in the mitochondrial DNA. Conclusion Despite the rarity of this syndrome, the diagnosis was easily made due to the presence of the classic triad: external ophthalmoplegia, pigmentary retinopathy and onset in a patient younger than 20 years old. In our opinion, a search for Kearns-Sayre syndrome in all patients with de Toni-Debré-Fanconi syndrome is a valuable medical routine.

  3. Nance-Horan syndrome: a contiguous gene syndrome involving deletion of the amelogenin gene? A case report and molecular analysis.

    Science.gov (United States)

    Franco, E; Hodgson, S; Lench, N; Roberts, G J

    1995-03-01

    A case of Nance-Horan syndrome in a male is presented, with some features of the condition in his carrier mother and her mother. It is proposed that Nance-Horan syndrome might be a contiguous gene syndrome mapping to chromosome Xp21.2-p22.3. The proband had congenital cataract microphthalmia and dental abnormalities including screwdriver shaped incisors and evidence of enamel pitting hypoplasia. The region Xp21.2-p22.3 also contains the tooth enamel protein gene, amelogenin (AMGX). Using molecular genetic techniques, we have shown that there is no evidence that the AMGX gene is deleted in this case of the Nance-Horan syndrome.

  4. Acrochordons as a Cutaneous Sign of Metabolic Syndrome: A Case ...

    African Journals Online (AJOL)

    cholesterol and triglyceride were significantly higher in patients than those in controls. Serum levels of high‑density lipoprotein were less in patients. Patients with acrochordons had higher systolic and diastolic blood pressures than controls. Conclusion: Acrochordons may represent a cutaneous sign for Metabolic syndrome ...

  5. Seip-lawrence Syndrome (Three Cases in a Family

    Directory of Open Access Journals (Sweden)

    B.S.N. Reddy

    1986-01-01

    Full Text Available A, rare episode of Seip-Lawrence syndrome manifesting in all three case siblings of consanpinous parents is reported. Two children we′re male and one female. They exhibited low intelligence,′ gaunt facies, depressed bridge of nose, large low-sct ears, thick lips and protruberant abdomen. Skin was showing hypermelanosis, hypertrichosis, absence of subcutaneous fat and acan nigricaFNx01s with′ very prominent perianal rUgO6itiS In addition, the first child was short statured having hypertrophic Clitoris, hepatomcoy, left ventricular hypertro hy, hyperglycaemia and glycossuria- without ketoacidosis. The second child was, having enlargement of penis, left ventricular hypertrophy,,hepatospienomegaly and abnormal GTT. The third and the youngest child was having only cutaneous changes and no viscoromegaly or biochemical abnormality. Nou Of these patients were having gigantism and advanced bone age.

  6. A Case of Miller Fisher Syndrome, Thromboembolic Disease, and Angioedema: Association or Coincidence?

    OpenAIRE

    Salehi, Nooshin; Choi, Eric D.; Garrison, Roger C.

    2017-01-01

    Patient: Male, 32 Final Diagnosis: Miller Fisher syndrome Symptoms: Ataxia ? headache ? ophthalmoplegia Medication: ? Clinical Procedure: Plasmapheresis Specialty: Neurology Objective: Rare co-existance of disease or pathology Background: Miller Fisher Syndrome is characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia, and is considered to be a variant of Guillain-Barre Syndrome. Miller Fisher Syndrome is observed in approximately 1?5% of all Guillain-Barre cases in Wes...

  7. “GILAHARI (LIZARD) SYNDROME” IS IT A NEW CULTURE BOUND SYNDROME? - A CASE REPORT

    OpenAIRE

    Verma, K.K.; Bhojak, M.M.; Singhal, A.K.; Jhirwal, O.P.; Khunteta, Archana

    2001-01-01

    Culture bound syndromes are generally limited to specific societies or cultural areas and are localized. Authors report a case which seems to be a new culture bound syndrome, has atypical presentation and difficult to categories but could be diagnosed as somatoform NOS (F-45.9). This syndrome is commonly called Gilahari (Lizard) among local public and considered to be very serious and fatal illness prevalent in areas of west Rajasthan. According to public a small swelling climbs from the back...

  8. Churg-Strauss syndrome: a case with unusual manifestations

    International Nuclear Information System (INIS)

    Restrepo, Mauricio; Gonzalez, Luis Alonso; Vasquez, Gloria

    2008-01-01

    Churg-Strauss syndrome, a necrotizing systemic vasculitis which involves the small and (more rarely) the medium-sized vessels, is a primary vasculitis strongly associated with anti neutrophil cytoplasm antibodies (ANCA). It is characterized by the presence of asthma, eosinophilia and extravascular eosinophilic granulomas. Herein, we report a 36-year-old woman with a history of late onset asthma and allergic rhinitis who developed central nervous system involvement, peripheral neuropathy, leucocytoclastic vasculitis and eosinophilia. Interestingly, unusual clinical manifestations of Churg-Strauss syndrome such as mesenteric micro aneurysms and jaw claudication were present in this particular patient. A brief review of the literature of Churg-Strauss syndrome is presented.

  9. Proteus Syndrome: Report of a Case with Developmental Glaucoma

    Science.gov (United States)

    Yuksel, Nursen; Sarman, Hakan; Bayramgurler, Dilek

    2014-01-01

    The purpose of this study was to report developmental glaucoma and pseudopapilledema in a patient with Proteus syndrome. We defined the presence of developmental glaucoma, right pseudopapilledema and myopia in a 4.5-year-old patient with Proteus syndrome. Marked right hemihypertrophy, lipoma, macrodactyly, and asymmetry of the limbs were observed on systemic examination. A cavernoma was also detected in magnetic resonance imaging of the brain. The patient underwent bilateral goniotomy surgery due to glaucoma. The surgical outcomes were satisfactory in both eyes. In conclusions developmental glaucoma and pseudopapilledema might be associated with Proteus syndrome. PMID:24882963

  10. Axillary web syndrome following secondary breast-conserving surgery: a case report

    OpenAIRE

    Wei, Panmei; Zhu, Liling; Chen, Kai; Jia, Weijuan; Hu, Yue; Su, Fengxi

    2013-01-01

    Background Axillary web syndrome is a cause of significant morbidity in the early postoperative period after axillary surgery. Case presentation A patient developed axillary web syndrome after secondary breast surgery and recovered in 3 weeks through physical therapy and using Aescuven Forte. Discussion The pathogenesis of axillary web syndrome is not clear. It is reported that axillary surgery is the main cause. The presented case indicates that tissue injury might be an important cause of a...

  11. Cholescintigraphic abnormality in a case of Kawasaki syndrome

    International Nuclear Information System (INIS)

    Zanzi, I.; Cuomo Perpignano, M.; Margouleff, D.; Aiges, H.

    1985-01-01

    A 26-month-old girl with Kawasaki syndrome (mucocutaneous lymph node syndrome) is presented. Liver function studies were abnormal and sonographic examination revealed hydrops of the gallbladder. The Tc-99m DISIDA cholescintigraphy demonstrated both early and delayed nonvisualization of the gallbladder. A photopenic area was noted in and below the gallbladder fossa and there was medial and upward displacement of the common bile duct. It appears that Kawasaki syndrome may result in nonvisualization of the gallbladder by cholescintigraphy. Accordingly, this diagnosis should be added to the list of conditions associated with nonvisualization of the gallbladder by biliary scintigraphy

  12. [Frontoparietal hypoperfusion in Capgras syndrome: a case report and review].

    Science.gov (United States)

    Eren, Ibrahim; Civi, Ikbal; Yildiz, Mustafa

    2005-01-01

    Capgras syndrome (CS) is characterized by the delusional belief that a person, usually very close to the patient, has been replaced by a double who is physically very similar to the original. CS is relatively rare, occurring predominantly in course of schizophrenia, particularly of the paranoid sub-type, and less frequently in association with schizoaffective and affective disorder. Recent years have witnessed a sharp increase in the number of published CS cases with an organic etiology; however, CS was considered to have its origins in psychodynamic conflict. We present a patient with the CS and brain SPECT findings whom without psychiatric disorder. As an evaluation of brain SPECT, there have been found a significantly decreased blood flow in bilateral parietal regions and slightly decreased blood flow in bilateral posterior frontal regions. Cerebral dysfunction is proposed to be a central role in CS development. Unilateral right hemisphere lesions occur more frequently than the left; however, the majority of CS cases show bilateral involvement. Pathology involves many parts of the brain, most notably frontal and parietal cortex. Our findings support that frontoparietal dysfunction could be important in the pathogenesis of CS. We reviewed the neurobiology of CS and discussed our findings in this article. CS studies will give a better understanding of the neurobiological basis of psychotic experiences and may contribute to develop a paradigm on researches about other psychotic disorders.

  13. Re-emergence of a rare syndrome: A case of mauriac syndrome

    Directory of Open Access Journals (Sweden)

    Manish Gutch

    2013-01-01

    Full Text Available Mauriac syndrome is a rare syndrome associated with type 1 diabetes (T1DM in children presenting with growth retardation, hepatomegaly, and cushingoid features. Recently, there has been re-emergence of this syndrome, especially with the use of premix insulin. A 15-year old type 1 diabetic boy, who was on premix insulin with erratic blood glucose, was referred to us for evaluation of short stature. He had significant short stature, hepatomegaly, and cushingoid features. His growth hormone (GH stimulation was normal, and so was the overnight dexamethasone suppression test, based on which the diagnosis of Mauriac syndrome was reported. He was made to switch over to basal bolus regime, and was advised to follow-up for 6 months. He had reduction in hepatomegaly and a height gain of 3 cms.

  14. Cephalometric analysis of hard and soft tissues in a 12-year-old syndromic child: A case report and update on dentofacial features of Crouzon syndrome

    Directory of Open Access Journals (Sweden)

    K Nagaraju

    2011-01-01

    Full Text Available Crouzon syndrome or craniofacial dysostosis is a rare syndrome characterized by craniosynostosis, midfacial hypoplasia and exophthalmia. The abnormalities found in this syndrome change too much from case to case depending on the suture fusion order. We report a case of a 12 year old child and a mother showing variations in the dentofacial tissues clinically and radiographically. Subsequently, the application of digital software [Dolphin Imaging 11] enabled us to solve out the case as Crouzon syndrome by analyzing the skeletal and soft tissue alterations. An update of the effects of this syndrome on various systems and dentofacial features with emphasis on tooth abnormalities is documented.

  15. Cephalometric analysis of hard and soft tissues in a 12-year-old syndromic child: a case report and update on dentofacial features of Crouzon syndrome.

    Science.gov (United States)

    Nagaraju, K; Ranadheer, E; Suresh, P; Tarun, S P

    2011-01-01

    Crouzon syndrome or craniofacial dysostosis is a rare syndrome characterized by craniosynostosis, midfacial hypoplasia and exophthalmia. The abnormalities found in this syndrome change too much from case to case depending on the suture fusion order. We report a case of a 12 year old child and a mother showing variations in the dentofacial tissues clinically and radiographically. Subsequently, the application of digital software [Dolphin Imaging 11] enabled us to solve out the case as Crouzon syndrome by analyzing the skeletal and soft tissue alterations. An update of the effects of this syndrome on various systems and dentofacial features with emphasis on tooth abnormalities is documented.

  16. A case of orbital apex syndrome due to Pseudomonas aeruginosa infection

    OpenAIRE

    Takeshi Kusunoki; Kaori Kase; Katsuhisa Ikeda

    2011-01-01

    Orbital apex syndrome is commonly been thought to have a poor prognosis. Many cases of this syndrome have been reported to be caused by paranasal sinus mycosis. We encountered a very rare case (60-year-old woman) of sinusitis with orbital apex syndrome due to Pseudomonas aeruginosa infection. She had received insulin and dialysis for diabtes and diabetic nephropathy, moreover anticoagulants after heart by-pass surgery. She underwent endoscopic sinus operation and was treated with antibiotics,...

  17. Leg ulcer in Werner syndrome (adult progeria): a case report.

    Science.gov (United States)

    Fumo, Giuseppe; Pau, Monica; Patta, Federico; Aste, Nicola; Atzori, Laura

    2013-03-15

    Werner syndrome (WS; MIM#277700) or adult progeria, is a rare disease, associated with mutations of a single gene (RECQL2 or WRN), located on chromosome 8 (8p12). It codes a DNA-helicase, whose defects cause genomic instability. The highest incidences are reported in Japan and Sardinia (Italy). On this major island of the Mediterranean Basin, the WS cases have been observed in the northern areas. The authors describe the apparently first case reported in southern Sardinia, a 51-year-old woman, who was born in and resides in the province of Cagliari. She presented with a 9-year history of an intractable leg ulcer and other characteristic symptoms, including "bird-like" face, high-pitched voice, premature greying, short stature, abdominal obesity in contrast with thin body type, scleroderma-like legs, decreased muscle mass, diabetes, atherosclerosis, and premature menopause. A specialized genetic Institute of Research (IRCCS-IDI, Rome) confirmed the clinical diagnosis. There is no cure or specific treatment and patients must be periodically screened for an increased risk of cardiovascular and cerebrovascular disease and malignancies. Among the many findings, leg ulcers significantly affect the patient's quality of life. This problem may send the patient to the dermatologist, who finally suspects the diagnosis. Poor response to medical treatment may require aggressive repeated surgery, with poor or temporary results.

  18. A Case Report of Mauriac Syndrome: Diabetic Dwarfs.

    Directory of Open Access Journals (Sweden)

    Jaydeep A. Patel

    2015-12-01

    Full Text Available Introduction: Mauriac syndrome is a severe form of growth retardation seen in patients with poorly controlled type 1 diabetes mellitus characterized by growth failure, delayed puberty, hepatomegaly and Cushingoid features. It is often referred to as diabetic dwarfism. The actual cause is unknown but is probably a combination of factors including inadequate glucose in the tissues, decreased IGF-1 and growth hormone levels, impaired bioactivity of the hormones, a circulating hormone inhibitor, resistant or defective hormone receptors, especially with the use of premix insulin. Case Report: We report a case of 15 year old female, known case of type 1 diabetes mellitus since the age of 5 years, presented to us with diabetic ketoacidosis. She had multiple similar episodes in the past. She was on premix insulin (30/70 and tablet metformin but had poor compliance to the treatment. On examination she was found to be significantly short for her age (height 129 cm, less than 3rd percentile and weight was 27 kg (less than 3rd percentile with cushingoid features (round face and protuberant abdomen. She was at Tanner stage P1. On detailed laboratory evaluation, IGF-1 levels were decreased (64, LH levels were below normal limits (0.2 and FSH levels were normal, while transaminases and HbA1C (8.3 were elevated. TSH was elevated (22.6, anti-TPO was elevated (252.6 with normal FT3, FT4. Hemogram, renal function test, GH, cortisol, estradiol, prolactin, S. iron, S. ferritin were normal. Ultrasound abdomen showed fatty liver with atrophic pancreas and USG neck showed bilateral bulky thyroid lobes. Fundus examination was normal. Now for the past 1 year she is on regular insulin 8/15/8 units (BBF/BL/BD & Insulin Glargine 12 units. This led to a decrease in hepatomegaly and increase in height of 2 cms. Conclusion: Mauriac syndrome is a rare complication of poorly controlled diabetes mellitus in adolescence, but the treating physician should keep a high index of

  19. Systemic inflammatory response syndrome: a case of septic shock

    Directory of Open Access Journals (Sweden)

    Nicolò Gentiloni Silveri

    2008-09-01

    Full Text Available An elderly, diabetic male, with severe sepsis, swiftly treated with antibiotics that were efficacious in vitro against the E. Coli isolated in his blood, rapidly slides into multiple organ dysfunction syndrome and dies of septic shock after a month in intensive care, despite receiving appropriate pain relief and aetiopathogenetic therapy. This event provides us with the opportunity to take a new look at systemic inflammatory response syndrome and a critical review of the relative therapy

  20. Brainstem variant of posterior reversible encephalopathy syndrome: A case report.

    Science.gov (United States)

    Tortora, Fabio; Caranci, Ferdinando; Belfiore, Maria Paola; Manzi, Francesca; Pagliano, Pasquale; Cirillo, Sossio

    2015-12-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinico-radiological condition, generally observed in conjunction with severe and acute hypertension, that involves mainly the posterior head areas (occipital and temporal lobes) and anterior "watershed" areas. In this syndrome it is rare to observe a predominant involvement of the brainstem. We describe the clinical and radiological findings in a patient with brainstem involvement, discussing its pathophysiological features and possible differential diagnosis. © The Author(s) 2015.

  1. A fatal case of streptococcal toxic shock syndrome.

    Science.gov (United States)

    Doganci, Levent; Tanyel, Esra; Basibuyuk, Hakki; Darka, Ozge

    2008-04-01

    In daily medical practice, streptococcal toxic shock syndrome is an infrequent clinical entity which carry a very high risk of fatality. Early recognition of this toxin mediated immunopathological disease is very important to apply necessary invasive procedures such as an prompt amputation of the effected areas to save the patient. Here, we report a 47 year-old male farmer with a fatal streptococcal toxic shock syndrome to highlight the importance of emergency care and aggresive surgical intervention in similar situations.

  2. Optic nerve histopathology in a case of Wolfram Syndrome

    DEFF Research Database (Denmark)

    Ross-Cisneros, Fred N; Pan, Billy X; Silva, Ruwan A

    2013-01-01

    Mitochondrial dysfunction in Wolfram Syndrome (WS) is controversial and optic neuropathy, a cardinal clinical manifestation, is poorly characterized. We here describe the histopathological features in postmortem retinas and optic nerves (ONs) from one patient with WS, testing the hypothesis...

  3. The MEA syndrome - a contribution based on pictorial case records

    International Nuclear Information System (INIS)

    Brandstetter, K.; Luttke, G.; Golder, W.

    1991-01-01

    Multiple endocrine adenomatosis is defined as being a hereditary, pluriglandular syndrome associated with hyperplastic and neoplastic changes. The range of methods used included sonography, magnetic resonance tomography and angiography. (GDG) [de

  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. 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.

  6. Congenital Myasthenic Syndrome - A Report Of Nineteen Cases

    Directory of Open Access Journals (Sweden)

    Girija AS

    2001-01-01

    Full Text Available Congenital myasthenic syndrome (CMS is a rare disorder of the neuromuscular junction. We report here 19 patients, 7 sporadic and 12 from 6 families, with the age at diagnosis ranging between 1.5 years to 26 years (Mean-15yrs. There were 7 males and 12 females. All patients had ophthalmoplegia. Bulbar and limb muscle weakness with preserved reflexes was observed in 12 patients, All except tow presented with fluctuating opthalmoplegia, one each for cosmetic appearance and one for fatigue, Three patients had prognathism. All patients had normal ECG and serum creatine kinase levels. Acetylcholine receptor (AchR antibodies were absent in all. Electrophysiological workup showed a decremental response to repetitive nerve stimulation at low rates (LRS in all, Electrophysiological workup showed a decremental response to repetitive response to single stimulus. Needle EMG was normal. All patients had good response to parenteral neostigmine which was confirmed electrophysiologically. Second degree consanguinity was observed in 4 sporadic and 4 familial cases. Spontaneous remission was reported in none. This group of cases conforming to the class of CMS are noteworthy, because of high number, paucity of dysmorphic features, relatively benign course and response to anti cholinesterase drugs, Recognition of this entity from autoimmune myasthenia gravis by seronegativity and onset at birth or childhood is important as immunotherapy and thymectomy ineffective in CMS.

  7. A Nonfatal Case of Dobrava Hantavirus Hemorrhagic Fever with Renal Syndrome Combined with Hantavirus Cardiopulmonary Syndrome

    Directory of Open Access Journals (Sweden)

    Shemsedin Dreshaj

    2018-01-01

    Full Text Available Among hantaviruses (HTNV, 22 are known as pathogenic for humans. HTNV can cause two clinical entities: hemorrhagic fever with renal syndrome (HFRS and hantavirus pulmonary syndrome or hantavirus cardiopulmonary syndrome (HCPS. In most countries of Eastern Europe as well as in Kosovo, HTNV infection is presented mainly as HFRS. Here, we report a 20-year-old man with HFRS and HCPS caused by Dobrava hantavirus strain, successfully treated in Intensive Care Unit of Infectious Diseases Clinic, University Clinical Center of Kosovo. In HFRS endemic areas, patients with acute respiratory distress syndrome need to be evaluated for Dobrava hantavirus strain as a possible causative agent.

  8. Case Report: Prune perineum syndrome: a rare case with an unfavourable outcome

    OpenAIRE

    Lopes, Roberto I.; D?nes, Francisco T.; Messi, Gustavo B.; Machado, Marcos G.

    2016-01-01

    Prune perineum syndrome (PPS) is a rare anomaly, with only two previous case reports, both dying in the perinatal period. We report the first case of PPS that reached childhood. The patient presented with a hypoplastic genitalia and bilateral cryptorchidism. There was no evidence of an anal orifice. A significant prune-like mass was observed, extending from the perineum to both gluteal regions and to a cephalic mid-line bony prominence, with a 1cm central orifice that discharged urine. MRI co...

  9. Congenital Diaphragmatic Hernia in a Case of Patau Syndrome: A Rare Association

    Science.gov (United States)

    A, Jain; P, Kumar; A, Jindal; Yk, Sarin

    2015-01-01

    Congenital diaphragmatic hernia (CDH) occurs in 5-10% associated with chromosomal abnormalities like, Pallister Killian syndrome, Trisomy 18, and certain deletions.. Association of CDH with trisomy 13 (Patau syndromes) is very rare. Here, we report such an unusual association, where surgical repair was done, but eventually the case succumbed as a result of multiple fatal co-morbidities. PMID:26034714

  10. Congenital Diaphragmatic Hernia in a Case of Patau Syndrome: A Rare Association

    OpenAIRE

    A, Jain; P, Kumar; A, Jindal; Yk, Sarin

    2015-01-01

    Congenital DiaphragmaticHernia (CDH) occurs in 5-10% associated with chromosomal abnormalities like, Pallister Killian syndrome, Trisomy 18, and certain deletions. Association of CDH with trisomy 13 (Patau syndromes) is very rare. Here, we report such an unusual association, where surgical repair was done, but eventually the case succumbed as a result of multiple fatal co-morbidities.

  11. Congenital diaphragmatic hernia in a case of patau syndrome: a rare association.

    Science.gov (United States)

    A, Jain; P, Kumar; A, Jindal; Yk, Sarin

    2015-01-01

    Congenital diaphragmatic hernia (CDH) occurs in 5-10% associated with chromosomal abnormalities like, Pallister Killian syndrome, Trisomy 18, and certain deletions.. Association of CDH with trisomy 13 (Patau syndromes) is very rare. Here, we report such an unusual association, where surgical repair was done, but eventually the case succumbed as a result of multiple fatal co-morbidities.

  12. Paroxysmal alpha activity in Rett syndrome: a case report.

    Science.gov (United States)

    Whitney, Robyn; Moharir, Mahendranath; Allen, Anita; Cortez, Miguel A

    2014-09-01

    Rett syndrome is a severe neurodevelopmental disorder that primarily affects females. Classically the disorder is characterized by early normal development, followed by a period of regression and later recovery or stagnation. Typical features include a loss of purposeful hand skills, development of hand stereotypies, loss of spoken language, gait abnormalities, and acquired microcephaly. Epilepsy affects between 70% and 90% of individuals with Rett syndrome. A number of stereotypical electroencephalography findings have been reported in Rett syndrome. We report a 9-year-old girl with Rett syndrome and epilepsy with a unique electroencephalography finding consisting of intermittent paroxysms of alpha activity in both wakefulness and sleep without clinical signs. This unique electroencephalography signature has not previously been reported in the English literature. Knowledge of this unique electroencephalography pattern of diffuse paroxysmal alpha activity represents an additional distinct feature of the electroencephalogram in Rett syndrome and expands the spectrum of electroencephalography abnormalities in Rett syndrome. Crown Copyright © 2014. Published by Elsevier Inc. All rights reserved.

  13. Hantavirus cardiopulmonary syndrome: a report of two cases

    OpenAIRE

    Marcos Lazaro Moreli; Vivaldo Gomes da Costa; Daiane Pereira da Silva Novaes; Enia Cristina Flor; Juliana Freitas Silva; Keila Rejane Guimarães Vilela; Cácia Régia de Paula

    2013-01-01

    Infection with hantavirus, from the family Bunyaviridae, causes hantavirus cardiopulmonary syndrome (HCPS) in the Americas. This highly lethal anthropozoonosis afflicts preferentially individuals in rural areas and is transmitted by aerosol of excreta from infected wild rodents. The aim of this study is to report the almost simultaneous occurrence of two cases of HCPS in the municipality of Jataí, state of Goiás, Brazil.

  14. Hantavirus cardiopulmonary syndrome: a report of two cases

    Directory of Open Access Journals (Sweden)

    Marcos Lazaro Moreli

    2013-10-01

    Full Text Available Infection with hantavirus, from the family Bunyaviridae, causes hantavirus cardiopulmonary syndrome (HCPS in the Americas. This highly lethal anthropozoonosis afflicts preferentially individuals in rural areas and is transmitted by aerosol of excreta from infected wild rodents. The aim of this study is to report the almost simultaneous occurrence of two cases of HCPS in the municipality of Jataí, state of Goiás, Brazil.

  15. Wernicke-Korsakoff Syndrome as a Consequence of Delusional Food Refusal: A Case Study.

    Science.gov (United States)

    Hargrave, David D; Schroeder, Ryan W; Heinrichs, Robin J; Baade, Lyle E

    2015-12-01

    Wernicke-Korsakoff syndrome is caused by thiamine (vitamin B1) deficiency, typically resulting from malnutrition secondary to chronic alcohol abuse. Less often, other conditions can lead to malnutrition and Wernicke-Korsakoff syndrome. We describe a 35-year-old man who developed Wernicke-Korsakoff syndrome with a typical neurologic and neuropsychological presentation after somatic delusions led him to refuse to eat. Cases like his serve to heighten awareness of the interplay between psychiatric and neurologic conditions, their sometimes atypical pathogenesis, and the value to primary care providers of consulting with psychiatrists, neurologists, and neuropsychologists when managing patients with possible Wernicke-Korsakoff syndrome.

  16. Surgical Strategy in Bouveret's Syndrome. A Case Report

    Directory of Open Access Journals (Sweden)

    Dénes Márton István

    2016-06-01

    Full Text Available Bouveret's syndrome is a high mechanical obstruction due to impaction of a gallstone into the duodenum, through a cholecystoduodenal fistula. It belongs to a larger group of gallstone ileus, a disease which occurs after developing a fistula between the gallbladder and the gastrointestinal tract. This is a rare complication of gallstones but because it appears in elderly people, it has a high morbidity and mortality. Patients have various symptoms and the treatment is individualized. We present here a case of a 67 years old patient, admitted in emergency, presenting symptoms of high bowel obstruction, with onset 5 days before admission. Abdominal ultrasound reveals a 5 cm stone that seems to be in the gallbladder, gastric stasis and at gastroscopy appears a foreign body impacted in the duodenum. After a short preparation the patient underwent surgery. We found a dilated stomach and a large cholecystoduodenal fistula with an impacted gallstone in the duodenum. We performed one stage surgery: cholecystectomy, extraction of the stone and suturing of the fistula. We reestablished the continuity of the intestinal tract. We performed also an ileostomy for feeding the patient and protecting the anastomoses. The postoperative evolution was favorable.

  17. Erasmus Syndrome in a 42-Year-Old Male: A Rare Case Report

    OpenAIRE

    Chakrabarti, Subrata; Pan, Koushik

    2015-01-01

    Erasmus syndrome is a rare entity in which systemic sclerosis develops following exposure to silica with or without silicosis. Few case reports are available in literature. We report here a case of Erasmus syndrome in a 42-year-old manual labourer. The patient presented with arthralgia, Raynoud’s phenomenon, skin tightening and microstomia along with features of Interstitial Lung Disease (ILD) and pulmonary arterial hypertension. Evidence of Interstitial Lung Disease (ILD) with mediastinal ly...

  18. Refeeding syndrome in a vegan patient with stage IV gastric cancer: a novel case.

    Science.gov (United States)

    Brown, Teresa V; Moss, Rebecca A

    2015-03-01

    The refeeding syndrome encompasses the complex physiologic state that occurs in malnourished patients who receive nutrition after a period of decreased oral intake. The hallmark of the syndrome is hypophosphatemia, though other electrolyte imbalances and severe fluid shifts are commonly involved. Patients with newly diagnosed malignancies and those undergoing treatment for malignancies are at increased risk for developing the refeeding syndrome, however there are few reported cases or other data in the oncology literature regarding this syndrome in cancer patients. ©2015 Frontline Medical Communications.

  19. Prune belly syndrome, splenic torsion, and malrotation: a case report.

    Science.gov (United States)

    Tran, Sifrance; Grossman, Eric; Barsness, Katherine A

    2013-02-01

    An 18 year old male with a history of prune belly syndrome (PBS) presented with acute abdominal pain and palpable left upper quadrant mass. Computed tomography (CT) of the abdomen revealed a medialized spleen with a "whirl sign" in the splenic vessels, consistent with splenic torsion. Coincidentally, the small bowel was also noted to be on the right side of the abdomen, while the colon was located on the left, indicative of malrotation. Emergent diagnostic laparoscopy confirmed splenic torsion and intestinal malrotation. Successful laparoscopic reduction of the splenic torsion was achieved, however, conversion to an open procedure by a vertical midline incision was necessary owing to the patient's unique anatomy. Open splenopexy with a mesh sling and Ladd's procedure were subsequently performed. Malrotation and wandering spleen are known, rare associated anomalies in PBS; however, both have not been reported concurrently in a patient with PBS in the literature. In patients with PBS, acute abdominal pain, and an abdominal mass, high clinical suspicion for gastrointestinal malformations and prompt attention can result in spleen preservation and appropriate malrotation management. We present a case of a teenager who presented with a history of PBS, acute abdominal pain, and a palpable abdominal mass. The patient was found to have splenic torsion and intestinal malrotation. The clinical findings, diagnostic imaging, and surgical treatment options of splenic torsion are reviewed. Copyright © 2013 Elsevier Inc. All rights reserved.

  20. "Nine" syndrome: A new neuro-ophthalmologic syndrome: Report of two cases

    Directory of Open Access Journals (Sweden)

    Rohan R Mahale

    2015-01-01

    Full Text Available "Eight-and-a-half" syndrome is a rare condition involving the ipsilateral abducens nucleus or paramedian pontine reticular formation (PPRF, the ipsilateral medial longitudinal fasciculus (MLF, and the adjacent facial colliculus/facial nerve fascicle. The condition is often caused by a lesion (vascular or demyelinating in the dorsal tegmentum of the caudal pons. There are new variants of this syndrome caused by extension of lesion to involve new adjacent structures in pontine tegmentum. We report two patients with different etiology presenting with clinical features suggestive of eight-and-a-half syndrome associated with hemiataxia representing "nine" syndrome (8– + – = 9 adding new dimension to "eight-and-a-half" syndrome.

  1. Prune belly syndrome in an Egyptian infant with Down syndrome: a case report.

    Science.gov (United States)

    Metwalley, Kotb A; Farghalley, Hekma S; Abd-Elsayed, Alaa A

    2008-10-02

    Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 mumol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

  2. Severe Renal Hemorrhage in a Pregnant Woman Complicated with Antiphospholipid Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Shohei Kawaguchi

    2011-01-01

    Full Text Available Antiphospholipid syndrome is a systemic autoimmune disease with thrombotic tendency. Consensus guidelines for pregnancy with antiphospholipid syndrome recommend low-dose aspirin combined with unfractionated or low-molecular-weight heparin because antiphospholipid syndrome causes habitual abortion. We report a 36-year-old pregnant woman diagnosed with antiphospholipid syndrome receiving anticoagulation treatment. The patient developed left abdominal pain and gross hematuria at week 20 of pregnancy. An initial diagnosis of left ureteral calculus was made. Subsequently abdominal-pelvic computed tomography was required for diagnosis because of the appearance of severe contralateral pain. Computed tomography revealed serious renal hemorrhage, and ureteral stent placement and pain control by patient-controlled analgesia were required. After treatment, continuance of pregnancy was possible and vaginal delivery was performed safely. This is the first case report of serious renal hemorrhage in a pregnant woman with antiphospholipid syndrome receiving anticoagulation treatment and is an instructive case for urological and obstetrical practitioners.

  3. Serum uric acid level as a determinant of the metabolic syndrome: A case control study.

    Science.gov (United States)

    Khichar, Satyendra; Choudhary, Shyama; Singh, Veer Bahadur; Tater, Priyanka; Arvinda, R V; Ujjawal, Vivek

    To determine whether elevations of uric acid levels are associated with the cluster of disorders described in metabolic syndrome and to evaluate whether hyperuricemia may be considered a component of this syndrome. One year case-control study was conducted in Bikaner, Rajasthan, India from January to December 2013. The study population consisted of 200 subjects, 100 with metabolic syndrome (case) and 100 without metabolic syndrome (control) aged between 18 and 80 years, attending OPD at PBM Hospital were studied. Controls were age and sex matched to the cases. Blood tests and all physical variables were examined using standard methods. Subjects were divided into 6 groups according to their possession of 0, 1, 2, 3, 4 or 5 components of the metabolic syndrome. Statistical analysis was done using ANOVA, linear regression analysis and multivariate linear regression model. Mean serum UA level was significantly associated with all components of metabolic syndrome (pmetabolic factors increased showing a highly significant trend (pmetabolic syndrome. The current multivariate regression analysis clearly infers that uric acid can be considered as a marker and potential modifier of metabolic syndrome. Copyright © 2016 Diabetes India. Published by Elsevier Ltd. All rights reserved.

  4. Treatment of equine metabolic syndrome: A clinical case series.

    Science.gov (United States)

    Morgan, R A; Keen, J A; McGowan, C M

    2016-07-01

    Treatment of equine metabolic syndrome (EMS) is essential to improve insulin sensitivity and reduce the risk of laminitis. Calorie restriction and increased exercise are the mainstays of treatment but there is potential for poor owner compliance. To determine whether significant weight loss accompanied by improvements in measures of insulin sensitivity can be achieved in horses and ponies with EMS managed by their owners in their normal environment under veterinary guidance. Retrospective clinical case series. Horses and ponies attending 2 university hospitals for investigation and treatment of suspected EMS were eligible for inclusion in the study. Animals underwent a clinical examination, basal and dynamic endocrine testing; those with pituitary pars intermedia dysfunction (PPID) were excluded. Owners were given individually tailored diet and exercise programmes to follow for between 3 and 6 months. After the treatment period, clinical examination and endocrine tests were repeated and results compared to the initial assessment. Nineteen animals were recruited to the study, 17 with a history of laminitis. All animals showed a reduction in body condition score (Passessments. There were significant (P<0.05) reductions in basal insulin, insulin at 45 min during a combined glucose insulin tolerance test (CGIT), time for blood glucose concentration to return to baseline during a CGIT and mean area under the glucose curve. A diet and exercise programme tailored to the needs of the individual animal and implemented by the owner results in weight loss accompanied by improvements in insulin sensitivity. © 2015 EVJ Ltd.

  5. 46,XX ovotesticular disorder in a Mexican patient with Beckwith–Wiedemann syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Macías-Gómez Nelly

    2012-09-01

    Full Text Available Abstract Introduction Beckwith–Wiedemann syndrome is an overgrowth syndrome that is characterized by hypoglycemia at birth, coarse face, hemihypertrophy and an increased risk to develop embryonal tumors. In approximately 15% of patients, the inheritance is autosomal dominant with variable expressivity and incomplete penetrance, whereas the remainder of Beckwith–Wiedemann syndrome cases are sporadic. Beckwith–Wiedemann syndrome molecular etiologies are complex and involve the two imprinting centers 1 (IC1 and 2 (IC2 of 11p15 region. This case report describes, for the first time, the unusual association of ovotesticular disorder in a patient from Morelia, Mexico with Wiedemann-Beckwith syndrome. Case presentation We report the case of a Mexican six-year-old girl with Beckwith–Wiedemann Syndrome, ambiguous genitalia, and bilateral ovotestes. She has a 46,XX karyotype without evidence of Y-chromosome sequences detected by fluorescence in situ hybridization with both SRY and wcp-Y probes. Conclusion Although a random association between these two conditions cannot be excluded, future analysis of this patient with Beckwith–Wiedemann syndrome and 46,XX ovotesticular disorder may lead to new insights into these complex pathologies. We speculate that a possible misregulation in the imprinted genes network has a fundamental role in the coexistence of these two disorders.

  6. Evaluation of Retinal Changes Using Optical Coherence Tomography in a Pediatric Case of Susac Syndrome

    Directory of Open Access Journals (Sweden)

    Mehmet Kola

    2017-01-01

    Full Text Available Susac syndrome is a rare occlusive vasculopathy affecting the retina, inner ear and brain. The cause is unknown, although it generally affects young women. This syndrome can be difficult to diagnose because its signs can only be revealed by detailed examination. These signs are not always concomitant, but may appear at different times. This report describes a pediatric case who was diagnosed with Susac syndrome when retinal lesions were identified in the inactive period with the help of optical coherence tomography (OCT. The purpose of this case report is to emphasize the importance of OCT in clarifying undefined retinal changes in Susac syndrome.

  7. A Case of Miller Fisher Syndrome, Thromboembolic Disease, and Angioedema: Association or Coincidence?

    Science.gov (United States)

    Salehi, Nooshin; Choi, Eric D; Garrison, Roger C

    2017-01-16

    BACKGROUND Miller Fisher Syndrome is characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia, and is considered to be a variant of Guillain-Barre Syndrome. Miller Fisher Syndrome is observed in approximately 1-5% of all Guillain-Barre cases in Western countries. Patients with Miller Fisher Syndrome usually have good recovery without residual deficits. Venous thromboembolism is a common complication of Guillain-Barre Syndrome and has also been reported in Miller Fisher Syndrome, but it has generally been reported in the presence of at least one prothrombotic risk factor such as immobility. A direct correlation between venous thromboembolism and Miller Fisher Syndrome or Guillain-Barre Syndrome has not been previously described. CASE REPORT We report the case of a 32-year-old Hispanic male who presented with acute, severe thromboembolic disease and concurrently demonstrated characteristic clinical features of Miller Fisher Syndrome including ophthalmoplegia, ataxia, and areflexia. Past medical and family history were negative for thromboembolic disease, and subsequent hypercoagulability workup was unremarkable. During the course of hospitalization, the patient also developed angioedema. CONCLUSIONS We describe a possible association between Miller Fisher Syndrome, thromboembolic disease, and angioedema.

  8. Coffin-Siris syndrome: a case of an extremely low birthweight infant with severe kyphoscoliosis.

    Science.gov (United States)

    Suzumura, H; Sakurai, K; Kano, K; Ichimura, T

    1996-10-01

    A case of Coffin-Siris syndrome in a male of extremely low birthweight with severe kyphoscoliosis is reported. His birthweight was 965 g, the lowest reported in the world for an infant with this syndrome. Coffin-Siris syndrome is characterized by nail hypoplasia of the fingers and toes, eyebrow hypertrichosis, prominent lips and prenatal or postnatal growth retardation. He was the only case who was mechanically ventilated from birth because of birth asphyxia. He died at 12 days of age because of sepsis, a poor immune system as in other extremely low birthweight infants, and because he easily suffered from upper respiratory infection as a result of Coffin-Siris syndrome. Kyphoscoliosis is suggested as one of the important features in low birthweight cases of Coffin-Siris syndrome in previous reports and in the present case.

  9. Ascher′s syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    Shivcharan Lal Chandravanshi

    2015-01-01

    Full Text Available An 18-year-old Indian girl with upper lip deformity presented with on and off painless swelling of her both upper eyelids for 3 years. Clinical evaluation revealed bilateral blepharochalasis, narrowing of horizontal palpebral fissure, decreased outer intercanthal distance, iris coloboma, cleft soft palate, bifid uvula, sensorineural deafness and double upper lip. Clinical examination of the thyroid, thyroid hormone assay and ultrasonography revealed normal thyroid gland structure and function. Ascher′s syndrome was diagnosed. To our knowledge, this is the first reported case of Ascher′s syndrome associated with iris coloboma, heterochromia iridum, and narrowing of horizontal palpebral fissure and decreased outer intercanthal distance secondary to lengthening of lateral canthal ligament.

  10. Multiple Supernumerary Teeth in a Non-Syndromic Patient: A Case Report

    Directory of Open Access Journals (Sweden)

    Majid Eshgh Pour

    2013-01-01

    Full Text Available Introduction: Multiple supernumerary teeth are a rare phenomenon. It occurs more often in patients with syndromes such as Gardner's syndrome, cleidocranial dysplasia and so on. This phenomenon in absence of such syndromes is rare. The purpose of this report was to introduce a case of non-syndromic multiple supernumerary impacted teeth.Case Report: A 29-year-old woman with no skeletal, metabolic, systemic and mental disorder was referred to oral and maxillofacial department of Mashhad dental school. In clinical evaluation, seven Permanent teeth were missing. In radiographic evaluation, there were a total of 15 impacted teeth which 7 of them were supernumerary.Conclusion: Missing or Excess of one or more teeth usually leads to occlusal and functional problems. In these cases, a complete clinical and radiographic examination accompanieal by a precise history should be performed to plan a suitable surgical-orthodontic-prosthetic treatment.

  11. Acute Respiratory Distress Syndrome Associated With Rabies: A Case Report

    Directory of Open Access Journals (Sweden)

    Yung-Hsiang Hsu

    2006-02-01

    Full Text Available Acute respiratory distress syndrome (ARDS is the first potentially lethal complication in rabies virus infection, although its occurrence is rare. We report on a fatal case of rabies virus infection in a 45-year-old woman from Hu-Nan Province, China. The neurologic signs of limb numbness and water phobia occurred from 61 days after the dog bite; the clinical course was progressive, with the most severe clinical manifestations being fever, encephalitis, and ARDS. The woman expired 12 days after admission to the hospital. An autopsy proved rabies encephalitis, mainly involving the medulla oblongata, the thalamus, part of the pons, the cerebellum, and the hippocampus. The lung pathologic examination revealed the organizing phase of ARDS with diffuse alveolar damage, hyaline membrane formation, type II alveolar cell hyperplasia accompanied by proliferation of fibroblasts and infiltration of mononuclear cells into the interstitial space. Immunohistochemistry stain and reverse transcription-polymerase chain reaction for rabies virus failed to demonstrate the organism in the lung tissue. Strong expression of inducible nitric oxide synthase (iNOS was detected in the alveolar macrophages. An immunologic mechanism with iNOS expression in the absence of direct invasion of the organism may participate in the pathogenesis of ARDS associated with rabies.

  12. Mesenteric vein thrombosis associated with Klinefelters syndrome--a case report.

    Science.gov (United States)

    Murray, F E

    1988-01-01

    A case of mesenteric vein thrombosis presenting as gastrointestinal hemorrhage in a patient with Klinefelter's syndrome is reported, an association not previously described. The diagnosis was made preoperatively and was confirmed by angiography. The patient underwent a small bowel resection and made an uneventful recovery. A possible association between Klinefelter's syndrome and a hypercoagulable state, previously suggested elsewhere, is emphasized.

  13. Marfan Syndrome: A Report of Two Cases and Review

    Directory of Open Access Journals (Sweden)

    K Vinay Kumar Reddy

    2011-01-01

    Full Text Available Marfan syndrome is an autosomal dominant disorder of the connective tissues, resulting in abnormalities of the musculoskeletal system, cardiovascular system and eyes. It has a prevalence of 1 in 100,000 population and occurs in all ethnic groups. It may be familial or due to new mutation (30%, in the fibrillin gene on arm of chromosome 15. It is estimated that one person in every 3000 to 5000 has Marfan′s syndrome may have cardiovascular abnormalities and may be complicated by infective endocarditis. About 90% of Marfan patients will develop cardiac complications.

  14. Rare case of nephrotic syndrome: Schimke syndrome.

    Science.gov (United States)

    Pedrosa, Anna Kelly Krislane de Vasconcelos; Torres, Luiz Fernando Oliveira; Silva, Ana Corina Brainer Amorim da; Dantas, Adrianna Barros Leal; Zuntini, Káthia Liliane da Cunha Ribeiro; Aguiar, Lia Cordeiro Bastos

    2016-01-01

    Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case. Resumo A síndrome Schimke corresponde à displasia imuno-óssea, associada à doença renal progressiva secundária à síndrome nefrótica córtico-resistente, podendo haver outras anormalidades como hipotireoidismo e aplasia de medula óssea. Trata-se de uma patologia genética rara, com poucos relatos na literatura. O acometimento renal mais frequente é uma síndrome nefrótica por glomeruloesclerose segmentar e focal e falência renal progressiva. O objetivo deste estudo foi relatar um caso de síndrome de Schimke, investigação diagnóstica e condução do caso.

  15. Mirizzi Syndrome: A Case Report | Muthuuri | East and Central ...

    African Journals Online (AJOL)

    The classical Mirizzi Syndrome described by P. L. Mirizzi in 1948 is characterized by a cholecystocholedochal fistula arising from a calculus in the cystic duct that erodes into the common hepatic duct. The gall bladder eventually collapses due to fibrosis while the terminal bile ducts become dilated. A calculus is usually ...

  16. Acute Onset of Abdominal Muscle Dyskinesia ('Belly Dancer Syndrome') From Quetiapine Exposure: A Case Report.

    Science.gov (United States)

    Yeh, Jia-Yin; Tu, Kun-Yu; Tseng, Ping-Tao; Lee, Yu; Lin, Pao-Yen

    2018-02-22

    Belly dancer syndrome, also called belly dance syndrome or belly dancer dyskinesia, is a kind of abdominal dyskinesia with painful sensation. Its etiology is still unclear and there are few studies reporting its association with antipsychotics. Quetiapine is an atypical antipsychotic that causes lower risk of extrapyramidal symptoms than typical antipsychotics. Here, we presented the first case of belly dancer syndrome in a 71-year-old woman with major depressive disorder after short-term use of quetiapine.

  17. Ellis Van Creveld Syndrome: Report of a Case and Brief Literature Review

    OpenAIRE

    Gholamhossein Amirhakimi; Hedyeh Saneifard

    2008-01-01

    Objective: Ellis van Creveld syndrome (EvCS) is a rare autosomal recessive (AR) disorder first described in 1940. The syndrome manifests with several skeletal, oral mucosal and dental anomalies, congenital cardiac defects and nail dysplasia. EvCs should be differentiated from other chondrodystrophies such as achondroplasia and Morquios syndrome.Case Presentation: A nine-year old girl was referred with short stature. In physical examination her height was 105 cm. She had normal intelligence, s...

  18. Reiters syndromea case report and review of literature | Alebiosu ...

    African Journals Online (AJOL)

    The occurrence of Reiter's Syndrome is rare and not commonly reported in Nigeria. This paper reports a case of a 35yr old male Nigerian with Reiter's Syndrome, occurring 1-2 weeks after a bout of a dysenteric illness. The patient presented with fever, conjunctivitis, dysentery, urethritis and arthralgia. The joint pains ...

  19. Morquio syndrome (MPV IV-A case report

    Directory of Open Access Journals (Sweden)

    Rekhi Gulbir

    1991-01-01

    Full Text Available A child, of normal intelligence, belonging to a nonconsanguineous marriage was diagnosed as MPS type IV the so called Morquio syndrome. Despite mild corneal cloudiness no other ophthalmological abnormalities were observed. Reilly granules in the leukocytes and abnormal mucopolysaccharides in urine confirmed the diagnosis.

  20. A case of Pearson syndrome associated with multiple renal cysts.

    Science.gov (United States)

    Gürgey, A; Ozalp, I; Rötig, A; Coşkun, T; Tekinalp, G; Erdem, G; Akeören, Z; Caglar, M; Bakkaloglu, A

    1996-10-01

    A 41-day-old infant who had severe metabolic acidosis, anemia, bleeding, hypoglycemia, and proximal tubulopathy was diagnosed with Pearson syndrome. Fibrosis in the liver, severe iron deposition in hepatocytes, and multiple renal cortical cysts were found on postmortem examination. Southern blot analysis of mitochondrial DNA obtained from peripheral blood revealed a heteroplasmic deletion of approximately 3.5 kilobases.

  1. Case Report: Gitelman Syndrome as a Cause of Psychomotor ...

    African Journals Online (AJOL)

    Introduction: Gitelman syndrome (GS) is a very rare autosomal recessive tubulopathy due to loss-of-function or mutation in solute carrier family12, member 3 gene (SLC12A3 gene) encoding thiazide-sensitive NaCl co-transporter in the distal convoluted tubule, leading to hypokalemia, metabolic alkalosis, hypomagnesemia, ...

  2. A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect

    Directory of Open Access Journals (Sweden)

    De Molfetta Greice Andreotti

    2002-01-01

    Full Text Available Angelman syndrome (AS and Prader-Willi syndrome (PWS are distinct human neurogenetic disorders; however, a clinical overlap between AS and PWS has been identified. We report on a further case of a patient showing the PWS phenotype with the AS molecular defect. Despite the PWS phenotype, the DNA methylation analysis of SNRPN revealed an AS pattern. Cytogenetic and FISH analysis showed normal chromosomes 15 and microsatellite analysis showed heterozygous loci inside and outside the 15q11-13 region. The presence of these atypical cases could be more frequent than previously expected and we reinforce that the DNA methylation analysis is important for the correct diagnosis of severe mental deficiency, congenital hypotonia and obesity.

  3. Primary Sjögren′s syndrome without ocular involvement: A rare case report

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    Tushar Phulambrikar

    2014-01-01

    Full Text Available Sjögren′s Syndrome (SS is a chronic systemic autoimmune disorder, characterized by the lymphocytic infiltration of lacrimal and salivary glands, giving rise to dry eyes (keratoconjunctivitis sicca and dry mouth (xerostomia. Primary Sjögren′s Syndrome commonly presents only with sicca manifestations; whereas, secondary Sjögren′s syndrome occurs in connection with other autoimmune rheumatic diseases. Primary Sjögren′s syndrome without ocular manifestation is rarely reported in the literature. Here we report a case of a 45-year-old female, who presented to us with complaints of dryness of mouth and dysphagia, without any ocular and systemic manifestations. On further evaluation she was diagnosed as a case of Primary Sjögren′s syndrome. With this case report, we intend to emphasize the importance of an early diagnosis of this disorder, along with a brief review of various diagnostic criteria.

  4. Prune belly syndrome associated with bilateral multicystic dysplastic kidneys and urethral obstruction: A case report

    Directory of Open Access Journals (Sweden)

    Arzu Akdag

    2015-06-01

    Full Text Available Prune belly syndrome is a rare congenital disorder defined by a characteristic clinical triad: Abdominal muscle deficiency, severe urinary tract abnormalities, and bilateral cryptorchidism. We describe a preterm neonate of Prune Belly syndrome who had abdominal muscle deficiency, multicystic dysplastic kidney, urethral hypoplasia and pulmonary hypoplasia. We presented this rare case with the data gathered from the literatüre.

  5. Van Der Woude SyndromeA Report Of Two Cases | Umweni ...

    African Journals Online (AJOL)

    Two cases of Van der Woude syndrome, which presented in a mother and son are reported. The occurrence of isolated cleft palate in a sibling supports the evidence that Van der Woude syndrome is associated with a dominant autosomic gene of high penetrance and variable expressively. The occurrence of Van der ...

  6. Endovascular treatment of nutcracker syndrome - a case report

    International Nuclear Information System (INIS)

    Rowinski, O.; Januszewicz, M.; Wojtaszek, M.; Nawrot, I.; Szmidt, J.

    2007-01-01

    The 'nutcracker' syndrome is most commonly caused by arterial compression of the left renal vein between the superior mesenteric artery and the aorta. As a consequence venous blood pressure increases within the renal pelvis, ureter and gonadal veins. This compression syndrome may be treated by endovascular stent implantation into the left renal vein. A 20 year old female patient was referred to us, suffering from pain in her left side, gross proteinuria and the suspicion of 'nutcracker' syndrome. Symptoms were present for the last 3 years. Angio MRI was performed and confirmed compression of the left renal vein between the aorta and the superior mesenteric artery. The patient was qualified for endovascular treatment. A self expandable metallic stent, diameter 16 x 40 mm was implanted into the left renal vein. Control venography confirmed good placement of the stent and a good immediate hemodynamic effect of the procedure. The patient remains symptom free in a 14 month follow up period. At present, endovascular stenting seems to be the method of choice for the treatment of the nutcracker syndrome. (author)

  7. Vagal nerve stimulation for medically refractory epilepsy in Angelman syndrome: a series of three cases.

    Science.gov (United States)

    Tomei, Krystal L; Mau, Christine Y; Ghali, Michael; Pak, Jayoung; Goldstein, Ira M

    2018-03-01

    We describe three children with Angelman syndrome and medically refractory epilepsy. Case series of three pediatric patients with Angelman syndrome and medically refractory epilepsy. All three patients failed medical treatment and were recommended for vagal nerve stimulator (VNS) implantation. Following VNS implantation, all three patients experienced reduction in seizure frequency greater than that afforded by medication alone. We present vagal nerve stimulator implantation as a viable treatment option for medically refractory epilepsy associated with Angelman syndrome.

  8. CASE REPORT Triple A syndrome presenting with myopathy: An ...

    African Journals Online (AJOL)

    salah

    nomic nervous systems. Progression of neurological symptoms has been report- ed with worsening of peripheral neurop- athy, dementia, long tract degeneration, dysarthria and ataxia3. In this paper we report a 13 year old boy with Allgrove syndrome presenting with muscular weakness that was confirmed by EMG studies.

  9. Case report - Achondroplastic syndrome in a West African dwarf lamb

    African Journals Online (AJOL)

    A three week old, male, West African Dwarf (WAD) lamb presented with disproportionate hind limb was diagnosed of having achondroplastic syndrome by physical and radiological examination. Physical examination showed the right hind limb was deformed at the level of the tarsus, metatarsus and phalanges. Radiological ...

  10. Poland's Syndrome: A case report | Gashegu | East and Central ...

    African Journals Online (AJOL)

    Poland's Syndrome is a rare congenital condition. It is classically characterized by absence of unilateral chest wall muscles and sometimes ipsilateral symbrachydactyly (abnormally short and webbed fingers). The condition typically presents with unilateral absence of the sternal or breastbone portion of the pectoralis major ...

  11. Coexistence of Mayer-Rokitansky-Küster-Hauser Syndrome and Turner Syndrome: A Case Report.

    Science.gov (United States)

    Białka, Agnieszka; Gawlik, Aneta; Drosdzol-Cop, Agnieszka; Wilk, Krzysztof; Małecka-Tendera, Ewa; Skrzypulec-Plinta, Violetta

    2016-04-01

    Turner syndrome is a common chromosomal disorder, with an incidence of 1 in 2000 live-born female infants. Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) affects 1 in 4500 female births and, rarely, it might be associated with gonadal dysgenesis. A 17-year-old girl was referred to our clinic with short stature and primary amenorrhea. The patient was diagnosed with Turner syndrome and underwent estrogen therapy. At the age of 24 years, just after the patient's sexual initiation, the first complete gynecological examination was performed. A blind-ending vagina was revealed and the patient was diagnosed with MRKH. Early diagnosis of coexistence of MRKH and Turner syndrome, although very difficult, might prevent patients from developing serious complications. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  12. Midodrine in the prevention of hepatorenal syndrome type 2 recurrence: a case-control study.

    Science.gov (United States)

    Alessandria, C; Debernardi-Venon, W; Carello, M; Ceretto, S; Rizzetto, M; Marzano, A

    2009-04-01

    Hepatorenal syndrome is a severe complication of cirrhosis. Treatment with terlipressin has currently the best efficacy pedigree, inducing hepatorenal syndrome reversal in a high proportion of patients. However, hepatorenal syndrome recurrence after terlipressin withdrawal is very common, especially in type 2 hepatorenal syndrome. Midodrine, an oral adrenergic vasoconstrictor, has been suggested to be an effective therapy in hepatorenal syndrome. To analyse the impact of treatment with midodrine after hepatorenal syndrome type 2 reversal induced by terlipressin on the prevention of hepatorenal syndrome recurrence. A case-control design was used. The outcome of 10 patients with hepatorenal syndrome type 2 treated successfully with terlipressin and then with midodrine (7.5-12.5mg/tid) was compared with that of an historical control group of hepatorenal syndrome type 2 patients responders to treatment with terlipressin. Patients and controls were matched by age, plasma renin activity (PRA) levels and severity of renal and liver failure. Cases and controls were similar with respect to pre-treatment with terlipressin. The hepatorenal syndrome recurrence probability was the same in the two groups (cases and control: 9/10, 90%, p=ns). No significant differences were found between cases and controls with respect to serum creatinine (1.9+/-0.1mg/dl vs. 2+/-0.2mg/dl), blood creatinine clearance (28+/-5ml/min vs. 24+/-5ml/min), urinary sodium excretion (12+/-6mequiv./d vs. 19+/-4mequiv./d) and PRA levels (17+/-3ng/ml/h) vs. 20+/-3ng/ml/h) after terlipressin withdrawal (p=ns). These results show that in patients responders to terlipressin hepatorenal syndrome recurrence is not different between patients treated with midodrine and subjects who did not receive vasoconstrictor treatment after terlipressin withdrawal. These data suggest that midodrine is not effective in preventing hepatorenal syndrome type 2 recurrence.

  13. Neuroblastoma in a Case with Congenital Horner’s Syndrome

    Directory of Open Access Journals (Sweden)

    Hüseyin Mayalı

    2014-08-01

    Full Text Available Miosis, ptosis, and ipsilateral facial anhidrosis are normally present in Horner’s syndrome. Pathologies which show central, preganglionic and postganglionic residence in sympathetic chain are present in its etiology. A 3-month-old girl baby was admitted to our clinic for ptosis in the left eye. Heterochromia, ptosis in the left eye, myosis and, ipsilateral anhidrosis were detected in her examination. In view of these findings, it seemed possible that her disease could be congenital Horner’s syndrome. Brachial plexus injury due to birth trauma plays a major role in the etiology of congenital Horner’s syndrome. There was not any birth trauma history in our patient. The patient was diagnosed to have neuroblastoma as a result of etiologic tests. In conclusion, Horner’s syndrome can be the presenting sign of childhood neuroblastoma. Therefore, it is advisable to examine the oculosympathetic system in detail in order to leave out any underlying serious disorder. (Turk J Ophthalmol 2014; 44: 325-6

  14. Superior Vena Cava Syndrome in a Patient with Small-Cell Lung Cancer: A Case Report

    OpenAIRE

    Christina Brzezniak; Bryan Oronsky; Corey A. Carter; Bennett Thilagar; Scott Caroen; Karen Zeman

    2017-01-01

    Superior vena cava (SVC) syndrome, a potential oncologic emergency, is closely associated with malignancy and right-sided lung cancer in particular. A case of SVC syndrome presenting with facial swelling, neck distension, and enlarged veins of the upper chest, which developed over a period of 5 weeks in a 46-year-old patient on a clinical trial with small-cell lung cancer, is reported. Computed tomography scan of the chest revealed slight enlargement of a superior conglomerate mediastinal lym...

  15. Prune belly syndrome in uniovular twin: a new finding or a case of ...

    African Journals Online (AJOL)

    A case of Prune Belly Syndrome associated with High Anorectal Anomaly and Unilateral Lung Cyst occurring in a uniovular twin is hereby presented. The twin brother has no clinical evidence of congenital anomaly in any system. We therefore ask; is this a new finding or a case of improper documentation of data. Keywords: ...

  16. De-clerambault syndrome: the case report of a student and lecturer ...

    African Journals Online (AJOL)

    De-Clerambault syndrome is a condition whereby an individual believes that someone else usually of a higher social class and inaccessible is in love with him or her and unwilling to reveal it. Despite evidence to the contrary, the patient still holds unto the conviction. There are few cases of De-Clerambault syndrome1, ...

  17. Transjugular renal biopsy in a case of nephrotic syndrome with extrahepatic portal venous obstruction

    Directory of Open Access Journals (Sweden)

    N Siddiqi

    2013-01-01

    Full Text Available Renal biopsy in patients with nephrotic syndrome helps to establish the pathological diagnosis and subsequent treatment. In certain circumstances, biopsies are difficult to obtain because of the risk of bleeding. We report a case where renal biopsy was obtained through the transjugular route in a patient who had nephrotic syndrome with extrahepatic portal venous obstruction.

  18. Laparoscopic management of superior mesentric artery syndrome: A case report and review of literature

    Directory of Open Access Journals (Sweden)

    Makam Ramesh

    2008-01-01

    Full Text Available Superior mesentric artery syndrome is a rare cause of high small bowel obstruction, caused by compression of the transverse part of the duodenum in between the superior mesentric artery and aorta. Patients present with chronic abdominal pain, vomiting and weight loss. We report a case of superior mesenteric artery syndrome, managed laparoscopically with laparoscopic duodenojejunostomy.

  19. Congenital pouch colon syndrome: A report of 17 cases

    International Nuclear Information System (INIS)

    Bhat, Nisar Ahmad

    2007-01-01

    Congenital pouch syndrome (CPC) is rare condition seen in an association with anorectal malformation that occurs almost exclusively in northern India. We viewed cases seen in our institution to study aspects of clinical presentation, diagnosis, embryogeneis, and management and raise awareness of this relatively frequent entity. From March 2002 to September 2004, 17 neonates/infants (11 males and 6 females) treated for CPC associated with anorectal malformations included 13 with type IV and 4 with type I CPC. Diagnosis was made by a single large air-fluid level on the infantogram occupying more than 50% of the entire abdominal dimension. In all patients, the pouch had fistulous communication with the genitourinary system, and there were other associated anomalies as well. Of 13 patients with pouch colon type IV, 11 neonates underwent laparotomy, ligation of the fistula, excision of the colonic pouch and end colostomy as a stage I procedure. Subsequently, these patients underwent definitive surgery, i.e. abdominal posterior sagittal anorectoplasty (AP-PSARP), with or without covering colostomy. Two of the 4 patients with type I CPC underwent laparotomy, ligation of the fistula and colorrhaphy as a first-stage operation before AP-PSARP. In our series, 4 patients were diagnosed intraoperatively and were treated in accordance with their operative findings. Post-operatively, there were no major complications except wound infection in some patients. There was one death that was not related to surgery. There are variants of the anomaly, but the possibility of CPC needs to be kept in mind as a possible association with anorectal malformations. (author)

  20. Guyon tunnel syndrome secondary to excessive healing tissue in a child: a case report

    Directory of Open Access Journals (Sweden)

    Sevinç Teoman

    2008-05-01

    Full Text Available Abstract We describe a case of an 8-year-old boy who developed a combined motor and sensory neuropathy of the distal ulnar nerve, after sustaining a superficial injury to the right flexor carpi ulnaris tendon at the level of the distal wrist crease. Guyon's canal syndrome is a very rare entity during childhood. We have noted only one prior description of this syndrome in the pediatric age group in a review of the English literature.

  1. Hassab’s operation for Joubert syndrome with congenital hepatic fibrosis: A case report

    Directory of Open Access Journals (Sweden)

    Koji Miyazawa

    2017-01-01

    Conclusion: This is the first case report of Hassab’s operation for congenital hepatic fibrosis in a patient with Joubert syndrome, a rare congenital condition. We achieved a favorable clinical outcome.

  2. A confirmed case of toxic shock syndrome associated with the use of a menstrual cup.

    Science.gov (United States)

    Mitchell, Michael A; Bisch, Steve; Arntfield, Shannon; Hosseini-Moghaddam, Seyed M

    2015-01-01

    Menstrual cups have been reported to be an acceptable substitute for tampons. These flexible cups have also been reported to provide a sustainable solution to menstrual management, with modest cost savings and no significant health risk. The present article documents the first case of toxic shock syndrome associated with the use of a menstrual cup in a woman 37 years of age, using a menstrual cup for the first time. Toxic shock syndrome and the literature on menstrual cups is reviewed and a possible mechanism for the development of toxic shock syndrome in the patient is described.

  3. Sedation with dexmedetomidine for conducting electroencephalogram in a patient with Angelman syndrome: a case report

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    Magda Lourenço Fernandes

    2016-04-01

    Full Text Available ABSTRACT INTRODUCTION: Angelman syndrome is characterized by severe mental retardation and speech and seizure disorders. This rare genetic condition is associated with changes in GABAA receptor. Patients with Angelman syndrome need to be sedated during an electroencephalogram ordered for diagnostic purposes or evolutionary control. Dexmedetomidine, whose action is independent of GABA receptor, promotes a sleep similar to physiological sleep and can facilitate the performing of this examination in patients with Angelman syndrome. CASE REPORT: Female patient, 14 years old, with Angelman syndrome; electroencephalogram done under sedation with dexmedetomidine. The procedure was uneventful and bradycardia or respiratory depression was not recorded. The examination was successfully interpreted and epileptiform activity was not observed. CONCLUSION: Dexmedetomidine promoted satisfactory sedation, was well tolerated and enabled the interpretation of the electroencephalogram in a patient with Angelman syndrome and seizure disorder.

  4. Syndrome of inappropriate antidiuretic hormone secretion (SIADH) or hyponatraemia associated with valproic Acid : four case reports from the Netherlands and a case/non-case analysis of vigibase

    NARCIS (Netherlands)

    Beers, Erna; van Puijenbroek, Eugène P; Bartelink, Imke H; van der Linden, Carolien M J; Jansen, Paul A F

    The Netherlands Pharmacovigilance Centre Lareb received four cases of severe symptomatic hyponatraemia or syndrome of inappropriate antidiuretic hormone secretion (SIADH) in association with valproic acid use, in which a causal relationship was suspected. This study describes these cases and gives

  5. X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report.

    Science.gov (United States)

    Telepova, Alena S; Romanenko, Svetlana A; Lemskaya, Natalya A; Maksimova, Yulia V; Shorina, Asia R; Yudkin, Dmitry V

    2017-01-01

    Small supernumerary marker chromosomes can be derived from autosomes and sex chromosomes and can accompany chromosome pathologies, such as Turner syndrome. Here, we present a case report of a patient with mosaic Turner syndrome and Dandy-Walker syndrome carrying a marker chromosome. We showed the presence of the marker chromosome in 33.8% of blood cells. FISH of the probe derived from the marker chromosome by microdissection revealed that it originated from the centromeric region of chromosome X. Additionally, we showed no telomeric sequences and no XIST sequence in the marker chromosome. This is the first report of these two syndromes accompanied by the presence of a marker chromosome. Marker chromosome was X-derived and originated from centromeric region. Patient has mild symptoms but there is no XIST gene in marker chromosome. CPG137. Registered 03 March 2017.

  6. Werewolf syndrome associated with gingival fibromatosis: A rare case report

    OpenAIRE

    Mysore K Sunil; Ashwarya Trivedi; Saloni Arora; Sonam Gupta

    2016-01-01

    Hypertrichosis is a rare disorder that causes abnormal excessive body hair growth. Hypertrichosis has informally been called werewolf syndrome because the appearance is similar to that of a werewolf. It is often associated with additional anomalies including gingival hyperplasia, deafness, cardiomegaly and bone abnormalities. The association of gingival fibromatosis and a coarse facies could further worsen the esthetics. Thus, a multidisciplinary approach involving a psychologist, a dentist a...

  7. Diffuse esophageal leiomyomatosis in a child with alport syndrome: case report

    International Nuclear Information System (INIS)

    Ko, Hong Seok; Goo, Hyun Woo; Yoon, Chong Hyun

    2004-01-01

    Diffuse esophageal leiomyomatosis is an exceedingly rare, benign, neoplastic condition occurring predominantly in children and young adults. This condition may occur as an isolated finding, or it may be associated with Alport syndrome. We report a case of diffuse esophageal leiomyomatosis with Alport syndrome in a 5-year-old girl who had presented with recurrent pneumonia, and present a review of the literature. We suspected Alport syndrome in the patient because she had a clinical history of congenital cataracts and hematuria, as well as imaging findings of diffuse esophageal leiomyomatosis. Alport syndrome was subsequently confirmed by electron microscopy of the kidney

  8. Grammatical Constructions in Cri du Chat Syndrome--Findings from a Case Study

    Science.gov (United States)

    Kristoffersen, Kristian Emil

    2009-01-01

    The literature on grammatical skills in persons with Cri du chat syndrome (CCS) is very limited, and the need for more knowledge in this area is thus evident, in particular for speech and language therapists working with individuals with this syndrome. This case study report describes the syntactic skills of a 14-year-old Norwegian girl with CCS.…

  9. A pregnancy-associated nonfamilial case of PAPA (pyogenic sterile arthritis, pyoderma gangrenosum, acne) syndrome.

    Science.gov (United States)

    Horiuchi, Isao; Fukatsu, Yuko; Ushijima, Junko; Nakamura, Eishin; Samajima, Koki; Kadowaki, Kanako; Takagi, Kenjiro

    2016-10-01

    Little is known about the influence of pregnancy on pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA) syndrome. We experienced a rare case of pregnancy complicated with PAPA syndrome. The patient had various histories of skin and joint disorders and experienced subarachnoid hemorrhage during pregnancy; however, her skin lesion was unaffected.

  10. Characteristics of dystonia in the 18p deletion syndrome, including a new case

    NARCIS (Netherlands)

    Postma, Anna G.; Verschuuren - Bemelmans, Corien C.; Kok, Klaas; van Laar, Teus

    2009-01-01

    Objective of the present study was to evaluate the possible pathophysiology and clinical characteristics of dystonia in patients with the 18p deletion syndrome by describing a new case and reviewing the literature. Dystonia in patients with the 18p deletion syndrome seems to present heterogeneously

  11. PRUNE BELLY SYNDROME: CASE REPORT OF A FAILED MANAGEMENT IN A LOWINCOME COUNTRY.

    Directory of Open Access Journals (Sweden)

    Marcella Schiavone

    2016-04-01

    Full Text Available Prune Belly Syndrome (PBS is a rare congenital syndrome characterized by three main features: abdominal wall flaccidity, bilateral intra-abdominal cryptorchidism, and urologic abnormalities. In this study we describe the case of a 2,600 gr baby, born at the Central Hospital of Beira, Mozambique. Our study confirms that in a low-income country only conservative management can be delivered, and therefore prognosis is worse and less effective than high-income countries.

  12. A Case of Microangiopathic Antiphospholipid-Associated Syndromes during Pregnancy: Review of the Literature

    Directory of Open Access Journals (Sweden)

    Nobuhiro Suzumori

    2012-01-01

    Full Text Available Microangiopathic antiphospholipid-associated syndromes (MAPSs are reported as encompassing several conditions mainly affecting the microvasculature of selected organs: the liver in HELLP syndrome (hemolysis, elevated liver enzymes, and low platelet; kidney, brain, and skin in TTP (thrombotic thrombocytopenic purpura. It is predominant in patients with catastrophic antiphospholipid syndrome (APS. A recent report suggests that APS is not only a thrombotic disease but also associated with microangiopathic features, and it can explain the greater prevalence of HELLP syndrome in these patients. We here report a case of MAPS during pregnancy associated with systemic lupus erythematosus (SLE in early second trimester.

  13. Synovial Cyst: A Culprit for Recalcitrant Iliotibial Band Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Yeoh CSN

    2015-11-01

    Full Text Available We present the case of a 56-year old gentleman who presented with recalcitrant iliotibial band (ITB friction syndrome which did not improve with various modalities of conservative treatment. Magnetic Resonance Imaging (MRI of the affected knee did not show pathology typical of ITB friction syndrome. However, open exploration revealed a synovial cyst deep to the iliotibial band, abutting against the anterolateral capsule. The presence of distinctive clinical signs on physical examination should alert clinicians to consider knee synovial cyst as a differential diagnosis when dealing with recalcitrant ITB syndrome.

  14. Prosthodontic management of a patient with Gardner′s syndrome: A clinical case report

    Directory of Open Access Journals (Sweden)

    Kunwarjeet Singh

    2014-01-01

    Full Text Available Gardner′s syndrome is a genetic condition demonstrating an autosomal dominant trait and characterized by the multiple colonic polyps (familial adenomatous polyposis coli with sebaceous cysts and jaw osteomas. Various dental abnormalities present in patient′s suffering with this syndrome includes multiple impacted or unerupted teeth, supernumerary teeth, hypodontia, compound odontomes and dentigerous cyst. In this case report, a patient with Gardner′s syndrome who suffered from functional and psychological problems owing to multiple impacted, unerupted teeth and hypodontia was presented. Patient was treated with a maxillary conventional overdenture opposing mandibular custom bar supported overdentures.

  15. Idiopathic Stevens-Johnson Syndrome in a Child: a Case Report

    Directory of Open Access Journals (Sweden)

    Amir Hossein Goudarzian

    2016-07-01

    Full Text Available Background Stevens-Johnson syndrome (SJS is one of potentially fatal disorders that often occur after taking certain types of medication. There are reports of this disease after some infections. This paper presents the case of a young boy with idiopathic Stevens-Johnson syndrome. Case Report A six-year-old male patient with complaint of fever and skin lesions was transferred to emergency department of Bu-Ali Sina hospital (Center of Mazandaran province, Iran. After further evaluations (Physical examination and laboratory reports, the patient did not show any common causes of Stevens - Johnson syndrome. Fortunately he was discharged in a good condition after duration of treatment. Conclusion Further studies need to be done in the field of risk factors of Stevens-Johnson syndrome.

  16. A new case of keratoconus associated with Williams-Beuren syndrome.

    Science.gov (United States)

    Viana, Melissa Machado; Frasson, Maria; Leão, Letícia Lima; Stofanko, Martin; Gonçalves-Dornelas, Higgor; Cunha, Pricila da Silva; de Aguiar, Marcos José Burle

    2013-09-01

    Williams-Beuren syndrome is a multisystemic genetic disorder caused by a contiguous gene deletion at 7q11.23. Keratoconus is a complex disease and it is suspected to have a genetic origin, although the specific gene responsible for keratoconus has not been identified. Although there are several ocular features in Williams-Beuren syndrome, keratoconus is not regularly described as part of this syndrome. To report a new patient with keratoconus and Williams-Beuren syndrome. This is the third case of an association between Williams-Beuren syndrome and keratoconus. The authors believe that the Williams-Beuren syndrome chromosome region can be a possible target for further investigation as the genetic basis of keratoconus.

  17. A case of split notochord syndrome: a child with a neuroenteric fistula presenting with meningitis

    NARCIS (Netherlands)

    G.H. van Ramshorst (Gabrielle); M.H. Lequin (Maarten); G.M.S. Mancini (Grazia); C. van de Ven (C.)

    2006-01-01

    textabstractThe authors describe a case of split notochord syndrome with a neuroenteric fistula in a newborn presenting with meningitis. Associated anomalies included agenesis of the corpus callosum, short colon, malrotation, epispadias, and an abnormally high bifurcation of the abdominal aorta and

  18. Gluteal compartment syndrome following drug-induced immobilization: a case report

    OpenAIRE

    Panagiotopoulos, Andreas Christos; Vrachnis, Ioannis; Kraniotis, Pantelis; Tyllianakis, Minos

    2015-01-01

    Background Gluteal compartment syndrome is a very rare condition characterized by non-specific symptoms that often lead to misdiagnosis. Case presentation We report a case of gluteal compartment syndrome in a 38?year-old Caucasian male (intravenous drug user) following prolonged immobilization due to loss of consciousness. The delay in the appropriate diagnosis and treatment led to a temporary acute kidney injury and to irreversible sciatic nerve palsy. Conclusion Delay in the definitive diag...

  19. An Interesting Case of Tolosa-Hunt Syndrome in a Young Male

    Directory of Open Access Journals (Sweden)

    Ghulam Murtaza MD

    2017-01-01

    Full Text Available Tolosa-Hunt syndrome is a rare disease with a limited number of cases reported in the literature. It typically presents with orbital pain associated with palsy of the third, fourth, or sixth cranial nerve. We present an interesting case of Tolosa-Hunt syndrome in a young male who responded well to high-dose steroids and in a few days had significant improvement in his retro-orbital pain and ocular movements.

  20. A RARE VARIANT OF TURNER SYNDROME- CASE REPORT

    Directory of Open Access Journals (Sweden)

    Ipsita Mishra

    2017-10-01

    Full Text Available Turner syndrome occurs in one out of every 2500-3000 live female births and the diagnosis is usually based on the clinical presentation. It is a genetic condition in which a female does not have the usual pair of two X chromosomes. Deletions of proportions of the X chromosome result in various Turner variants who have varied spectrum of clinical presentation. We report on a rare variant of deletion on long arm of X chromosome in a 35-year-old female with short stature, lack of secondary sexual characters, primary amenorrhea, average intelligence and diabetes mellitus. Chromosomal analysis using GTG-banding showed 46, X, del (X, (q13 in all cell lines. Hence, suspicion of rare variants of Turner syndrome in females must be done who present at a later age with atypical features.

  1. Intersection Syndrome in a Handcyclist: Case Report and Literature Review

    OpenAIRE

    Jean Yonnet, Gael

    2013-01-01

    Intersection syndrome describes a rare inflammatory condition located at the crossing point between the first dorsal compartment muscles and the radial wrist extensor muscles. It is a repetitive motion injury that affects patients who overuse their wrists. The present report reviews the incidence of the condition as well as the special populations it affects. The anatomy of the wrist is presented and clinical findings and physical examination techniques are reviewed to help the reader reach a...

  2. Cracked tooth syndrome: A report of three cases

    OpenAIRE

    Sadasiva, Kadandale; Ramalingam, Sathishmuthukumar; Rajaram, Krishnaraj; Meiyappan, Alagappan

    2015-01-01

    Cracked tooth syndrome (CTS), the term was coined by Cameron in 1964, which refers to an incomplete fracture of a vital posterior tooth extending to the dentin and occasionally into the pulp. CTS has always been a nightmare to the patient because of its unpredictable symptoms and a diagnostic dilemma for the dental practitioner due to its variable, bizarre clinical presentation. The treatment planning and management of CTS has also given problems and challenges the dentist as there is no spec...

  3. Mondini deformity in a case of Turner syndrome. A radiological finding.

    Science.gov (United States)

    Bodet Agustí, Eduard; Galido Ortego, Xavier; Ghani Martínez, Fares; García González, Begoña; Borràs Perera, Montserrat; Seara Gil, Angel

    2012-01-01

    Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. Progressive sensorineural hearing loss is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented progressive sensorineural hearing loss. The computed tomography of the ears showed bilateral Mondini deformity. Copyright © 2010 Elsevier España, S.L. All rights reserved.

  4. Restless legs syndrome responsive to rasagiline treatment: a case report.

    Science.gov (United States)

    Babacan-Yildiz, Gulsen; Gursoy, Esra; Kolukisa, Mehmet; Celebi, Arif

    2012-01-01

    We describe a patient with idiopathic restless legs syndrome (iRLS) who was responsive to rasagiline treatment. A 70-year-old woman presented with an 8-year history of iRLS symptoms and a 1-year history of resting tremor. The patient met the UK Parkinson's Disease Society Brain Bank Clinical Diagnostic Criteria (UK Parkinson Disease [PD] Brain Bank criteria) for the diagnosis of idiopathic PD and the criteria of the International Restless Legs Syndrome Study Group for the diagnosis of iRLS. One milligram of rasagiline once daily was started with the diagnosis of early PD as monotherapy. At week 8, the patient was almost iRLS symptoms free. Rasagiline has also been shown to mildly improve PD symptoms. Rasagiline was well tolerated during the follow-up. We suggest that rasagiline could represent a useful therapeutic option in the treatment of iRLS.

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

    Directory of Open Access Journals (Sweden)

    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

  6. Cri du chat syndrome: a series of five cases.

    Science.gov (United States)

    Dangare, Harsha M; Oommen, Samuel P; Sheth, Amisha N; Koshy, Beena; Roshan, Reeba; Thomas, Maya M; Danda, Sumita; Srivastava, Vivi M

    2012-01-01

    The cri du chat syndrome (CdCS) is a chromosomal deletion syndrome associated with a partial deletion of the short (p) arm of chromosome 5. We describe five children who were diagnosed to have CdCS by conventional cytogenetic analysis. The deletion was at 5p15 in four patients, whereas the fifth had a larger, more proximal deletion at 5p14. Fluorescence in situ hybridization (FISH) analysis confirmed the deletion of the CdCS critical region at 5p15.2. All five children had global developmental delay and dysmorphism with microcephaly. The other clinical features were variable. Since the clinical diagnosis of CdCS may not always be evident because of the phenotypic heterogeneity, cytogenetic analysis is necessary to establish the diagnosis and confirm that the deletion involves the CdCS critical region. This will enable early intervention which plays an important role in improving the outcome.

  7. Cri du chat syndrome: A series of five cases

    Directory of Open Access Journals (Sweden)

    Harsha M Dangare

    2012-01-01

    Full Text Available The cri du chat syndrome (CdCS is a chromosomal deletion syndrome associated with a partial deletion of the short (p arm of chromosome 5. We describe five children who were diagnosed to have CdCS by conventional cytogenetic analysis. The deletion was at 5p15 in four patients, whereas the fifth had a larger, more proximal deletion at 5p14. Fluorescence in situ hybridization (FISH analysis confirmed the deletion of the CdCS critical region at 5p15.2. All five children had global developmental delay and dysmorphism with microcephaly. The other clinical features were variable. Since the clinical diagnosis of CdCS may not always be evident because of the phenotypic heterogeneity, cytogenetic analysis is necessary to establish the diagnosis and confirm that the deletion involves the CdCS critical region. This will enable early intervention which plays an important role in improving the outcome.

  8. A case of clinical Reye syndrome presenting characteristic CT changes

    International Nuclear Information System (INIS)

    Hino, Tamaki; Sai, Hoshun; Morikawa, Yuji; Mizuta, Ryuzo; Okuno, Takehiko.

    1984-01-01

    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. (author)

  9. Tic Exacerbation in Adults with Tourette Syndrome: A Case Series

    OpenAIRE

    Sara M. Schaefer; Christopher A. Chow; Elan D. Louis; Daphne Robakis

    2017-01-01

    Background: Tourette syndrome (TS) has been described as peaking in adolescence with subsequent regression. We report patients who were diagnosed with TS during childhood who experienced a latent period (significant reduction in or absence of tics) followed by tic re-emergence in adulthood.Methods: We performed a retrospective chart review of outpatients over age 21 seen at the Yale neurology clinic between January 2012 and July 2016 who were diagnosed with childhood-onset tics, and...

  10. Traumatic superior orbital fissure syndrome: a rare case report

    OpenAIRE

    Eskitascioglu, Teoman; Yontar, Yalcin; Aydin, Ahmet; Tucer, Bulent

    2017-01-01

    Superior orbital fissure syndrome is a severe clinical entity characterized by injuries of neurovascular structures passing through the superior orbital fissure. A 38-year-old male patient admitted to outpatient clinic with left upper eyelid ptosis, ecchymosis, mydriasis, hypoesthesia in upper eyelid and frontal region, blepharoptosis, restriction of ocular movements in all directions, loss of accommodation reflex and absence of direct pupillary reflex. Three-dimensional computed tomography s...

  11. Clinical characteristics of mirror syndrome: a comparison of 10 cases of mirror syndrome with non-mirror syndrome fetal hydrops cases.

    Science.gov (United States)

    Hirata, Go; Aoki, Shigeru; Sakamaki, Kentaro; Takahashi, Tsuneo; Hirahara, Fumiki; Ishikawa, Hiroshi

    2016-01-01

    To investigate clinical features of mirror syndrome. We retrospectively reviewed 71 cases of fetal hydrops with or without mirror syndrome, and compared with respect to maternal age, the body mass index, the primipara rate, the gestational age at delivery, the timing of fetal hydrops onset, the severity of fetal edema, placental swelling, the laboratory data and the fetal mortality. The data are expressed as the medians. Mirror syndrome developed in 29% (10/35) of the cases with fetal hydrops. In mirror group, the onset time of fetal hydrops was significantly earlier (29 weeks versus 31 weeks, p = 0.011), and the severity of fetal hydrops (fetal edema/biparietal diameter) was significantly higher than non-mirror group (0.23 versus 0.16, p syndrome is occurred frequently in early and severe fetal hydrops and cause hemodilution and elevation of serum hCG.

  12. Type IV Ehlers-Danlos Syndrome: A Surgical Emergency? A Case of Massive Retroperitoneal Hemorrhage

    Science.gov (United States)

    Chun, Stephen G; Pedro, Patrick; Yu, Mihae; Takanishi, Danny M

    2011-01-01

    Retroperitoneal hemorrhagic bleeding is a known manifestation of Type-IV Ehlers-Danlos Syndrome that is caused by loss-of-function mutations of the pro-alpha-1 chains of type III pro-collagen (COL3A1) resulting in vascular fragility. A number of previous reports describe futile surgical intervention for retroperitoneal bleeding in Type-IV Ehlers-Danlos Syndrome with high post-operative mortality, although the rarity of retroperitoneal bleeding associated with Type-IV Ehlers-Danlos Syndrome precludes an evidence-based approach to clinical management. We report a 23-year-old male with history of Type-IV Ehlers-Danlos Syndrome who presented with severe abdominal pain and tachycardia following an episode of vomiting. Further work-up of his abdominal pain revealed massive retroperitoneal bleeding by CT-scan of the abdomen. Given numerous cases of catastrophic injury caused by surgical intervention in Type-IV Ehlers-Danlos Syndrome, the patient was treated non-operatively, and the patient made a full recovery. This case suggests that even in cases of large retroperitoneal hemorrhages associated with Ehlers-Danlos Syndrome, it may not truly represent a surgical emergency. PMID:21966332

  13. Multiple keratocystic odontogenic tumors in a non-syndromic minor patient: Report of an unusual case

    Directory of Open Access Journals (Sweden)

    Shalu Rai

    2013-01-01

    Full Text Available Keratocystic odontogenic tumor (KCOT is developmental odontogenic cysts of epithelial origin known for their potentially aggressive behavior and significant rate of recurrences. Single odontogenic cysts are very well documented in the literature. Multiple (KCOT are principle features of nevoid basal cell carcinoma syndrome (naevoid basal cell carcinoma syndrome; Gorlin-Goltz syndrome. We report an intriguing case of multiple KCOT in a non-syndromic patient simultaneously occurring in maxilla as well as in mandible with brief highlight on molecular data and the treatment modality.

  14. Chronic periodontitis with multiple risk factor syndrome: a case report.

    Science.gov (United States)

    Shimoe, Masayuki; Yamamoto, Tadashi; Iwamoto, Yoshihiro; Shiomi, Nobuyuki; Maeda, Hiroshi; Nishimura, Fusanori; Takashiba, Shogo

    2011-07-01

    Multiple risk factor syndrome is a clustering of cardiovascular risk factors, such as diabetes, dyslipidemia, hypertension, and obesity associated epidemiologically with insulin resistance. This report describes the clinical course of a patient suffering from severe periodontitis with multiple risk factor syndrome, and discusses the association between periodontal infection and systemic health. The patient had a history of type 2 diabetes, dyslipidemia, and hypertension for over 10 years. At baseline, her hemoglobin A1 c was 8.1%. However, she had no diabetic complications except periodontitis. The IgG antibody titers against Porphyromonas gingivalis FDC 381 and SU63 were elevated above the mean of healthy subjects +2 standard deviations. Intensive periodontal treatment, including periodontal surgery, was performed to reduce periodontal infection and bacteremia. Her systemic and periodontal conditions were evaluated longitudinally for 10 years. Following periodontal treatment, antibody titers against Porphyromonas gingivalis and hemoglobin A1c values were significantly improved. The other clinical data and medication for her systemic condition also remained stable during supportive periodontal therapy. However, she developed myocardial infarction, and showed continuous deterioration of hemoglobin A1 c level and periodontitis. The long-term clustering of risk factors, such as diabetes, dyslipidemia, hypertension, and periodontitis, are associated with the development of myocardial infarction. Treatment of systemic conditions in combination with comprehensive periodontal treatment is important in management of patients with multiple risk factor syndrome.

  15. Generalized epilepsy in a patient with mosaic Turner syndrome: a case report.

    Science.gov (United States)

    Jhang, Kai-Ming; Chang, Tung-Ming; Chen, Ming; Liu, Chin-San

    2014-04-02

    Reports on cases of epilepsy in Turner syndrome are rare and most of them have cortical developmental malformations. We report the case of a Taiwanese patient with mosaic Turner syndrome with generalized tonic-clonic epilepsy and asymmetrical lateral ventricles but no apparent cortical anomaly. A 49-year-old Taiwanese woman without family history presented with infrequent generalized tonic-clonic epilepsy since she was 11 years old. On examination, her short stature, webbed neck, swelling of hands and feet, retrognathic face, and mild intellectual disability were noted. She had spontaneous menarche and regular menses. Brain magnetic resonance imaging showed asymmetrical lateral ventricles and diffuse subcortical white matter T2-weighted hyperintensities. Chromosome studies disclosed low aneuploid (10%) 45,X/46,XX/47,XXX mosaic Turner syndrome. There is increasing evidence that epilepsy can be an uncommon presentation of Turner syndrome. Mosaic Turner syndrome with 47, XXX probably increases the risk of epilepsy but more research is needed to reach a conclusion. This case also strengthens our knowledge that Turner syndrome can be one of the pathologic bases of asymmetrical lateral ventricles. When a patient has idiopathic/cryptogenic epilepsy or asymmetrical lateral ventricles on brain images, the presence of a mild Turner phenotype warrants further chromosome studies.

  16. SMART Syndrome: Case report of a rare complication after cerebral radiation therapy

    International Nuclear Information System (INIS)

    Truntzer, P.; Salze, P.; Monjour, A.; Gaultier, C.; Ahle, G.; Guillerme, F.; Boutenbat, G.; Atlani, D.; Stilhart, B

    2012-01-01

    The authors report a 71-year-old woman case who developed, 7 years after a cerebral radiation therapy for a parieto-occipital glioblastoma, a stroke-like migraine attacks after radiotherapy syndrome (SMART syndrome), a rare complication characterized by reversible neurologic deficits with migraine described after cerebral irradiation. Transient gyri-form reversible enhancement is found on MRI during crises. This case report allows discussing the clinical, iconographic presentation and the clinical outcome of this syndrome at the light of the literature publication. (authors)

  17. Ellis-van Creveld Syndrome: A Case Report

    OpenAIRE

    Singh, Subash; Arya, Vandana; Daniel, M Jonathan; Vasudevan, Vijeev

    2012-01-01

    ABSTRACT Ellis-van Creveld syndrome also known as chondroectodermal dysplasia or mesoectodermal dysplasia; a rare genetic disorder of the skeletal dysplasia. ‘Six-fingered dwarfism’ (digital integer deficiency) was an alternative designation used for this condition when it was being studied in the Amish. It is characterized by short-limb dwarfism, polydactyly, malformation of the bones of the wrist, dystrophy of the fingernails, partial hare-lip, cardiac malformation and often prenatal erupti...

  18. A case of Alagille syndrome complicated by intraocular lens subluxation and rhegmatogenous retinal detachment

    OpenAIRE

    Fukumoto, Masanori; Ikeda,Tsunehiko; Sugiyama,Tetsuya; Ueki,Mari; Isizaki,Eisuke; Satou,Takaki

    2013-01-01

    Masanori Fukumoto, Tsunehiko Ikeda, Tetsuya Sugiyama, Mari Ueki, Takaki Sato, Eisuke Ishizaki Department of Ophthalmology, Osaka Medical College, Takatsuki City, Japan Abstract: This case report describes a case of Alagille syndrome with developing intraocular lens subluxation and rhegmatogenous retinal detachment 4 years after cataract surgery. A 15-year-old female patient with Alagille syndrome-associated cataracts in both eyes underwent phacoemulsification aspiration and intraocular lens ...

  19. Bilateral acute lupus pneumonitis in a case of rhupus syndrome

    Directory of Open Access Journals (Sweden)

    Supriya Sarkar

    2012-01-01

    Full Text Available Rhupus syndrome, the overlap of rheumatoid arthritis (RA and systemic lupus erythematosus (SLE, is an extremely uncommon condition. Organ damages found due to SLE are usually mild in rhupus. Lupus pneumonitis in rhupus syndrome has not been reported worldwide. We are reporting a 23-year-old female with bilateral symmetric erosive arthritis, oral ulcer, alopecia, polyserositis, anemia, leucopenia, positive RA-factor, anti nuclear antibody (ANA and anti ds-DNA. She presented with acute onset dyspnea, high fever, chest pain, tachycardia, tachypnea, hypoxia and respiratory alkalosis. High resolution computed tomography (HRCT-thorax showed bilateral, basal consolidation with air bronchogram. Repeated sputum and single broncho alveolar lavage (BAL fluid examination revealed no organism or Hemosiderin-laden macrophage. The diagnosis of rhupus was confirmed by combined manifestations of RA and SLE, and the diagnosis of acute lupus pneumonitis was established by clinico-radiological picture and by excluding other possibilities.

  20. Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Bhesania, Dhvani; Arora, Ankit; Kapoor, Sonali [Dept. of Conservative Dentistry and Endodontics, Manubhai Patel Dental College, Maharaja Krishnakumarsinhji Bhavnagar University, Vadodara (India)

    2015-09-15

    Numerous cases of enamel renal syndrome have been previously reported. Various terms, such as enamel renal syndrome, amelogenesis imperfecta and gingival fibromatosis syndrome, and enamel-renal-gingival syndrome, have been used for patients presenting with the dental phenotype characteristic of this condition, nephrocalcinosis or nephrolithiasis, and gingival findings. This report describes a case of amelogenesis imperfecta of the enamel agenesis variety with nephrolithiasis in a 21-year-old male patient who complained of small teeth. The imaging modalities employed were conventional radiography, cone-beam computed tomography, and renal sonography. Such cases are first encountered by dentists, as other organ or metabolic diseases are generally hidden. Hence, cases of amelogenesis imperfecta should be subjected to advanced diagnostic modalities, incorporating both dental and medical criteria, in order to facilitate comprehensive long-term management.