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Sample records for sinus syndrome presenting

  1. Carotid sinus syndrome as the presenting symptom of cystadenolymphoma

    Directory of Open Access Journals (Sweden)

    Noroozi Nelson

    2012-11-01

    Full Text Available Abstract Carotid sinus syndrome is a serious manifestation of head and neck malignancy. The purpose of this study was to clarify the presence of carotid sinus syndrome in a patient with cystadenolymphoma. To our knowledge carotid sinus syndrome secondary to cystadenolymphoma has not been reported to date. A 45-year-old woman with one-week-old swelling in the left mandibular angle having disturbing symptoms of vertigo, consciousness and sinus arrest. Holter monitoring revealed several episodes of sinus arrest. Ultrasonography showed a well-defined space-occupying lesion of about 31 mm in length and 17 mm in width located in the deep lobe of the left parotid gland. Computerized tomography (CT showed a large mass extending into the carotid space and protruding into the parapharyngeal space. Parotidectomy was performed. Surgical removal of the tumor resulted in complete amelioration of symptoms and disappearance of electrocardiogram abnormalities. Here we report on a clinical case of carotid sinus syndrome associated with cystadenolymphoma. To our knowledge carotid sinus syndrome secondary to cystadenolymphoma has not been reported to date, and is made more remarkable as a possible differential diagnosis after clarification of all possible causes. Early diagnosis and immediate management can minimize complications.

  2. Burkitt's lymphoma of the skull base presenting as cavernous sinus syndrome in early childhood.

    Science.gov (United States)

    Kalina, P; Black, K; Woldenberg, R

    1996-01-01

    Primary non-Hodgkin's lymphoma of the skull base presenting with neuro-ophthalmologic abnormalities or cavernous sinus involvement is very rare in children. We have found only 13 reported cases of cavernous sinus involvement by lymphoma [1]. We report the case of the youngest child diagnosed with Burkitt's lymphoma of the cavernous sinus and sphenoid sinus, whose first presentation was cavernous sinus syndrome with neuro-ophthalmologic findings.

  3. Superior sagittal sinus thrombosis: a rare complication of nephrotic syndrome.

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    Tullu M

    1999-10-01

    Full Text Available A two and half year-old-male child, known case of steroid responsive nephrotic syndrome presented with fever and vomiting of acute onset. He was diagnosed to have superior sagittal sinus thrombosis on a contrast computerised tomographic scan of brain. Recovery was complete without anticoagulant therapy. Superior sagittal sinus thrombosis is an extremely rare complication of nephrotic syndrome.

  4. Chronic frontal sinusitis presenting with complications

    Directory of Open Access Journals (Sweden)

    Zainab Sunu Ali

    2013-01-01

    Full Text Available A frontocutaneous fistula secondary to chronic frontal sinusitis can present with a fistulous opening in the forehead or in the eyelid. It may or may not be associated with Pott′s puffy tumor. In this article, we present 2 cases. A case of frontocutaenous fistula with opening in the upper eyelid at the lateral portion of floor of frontal sinus and another case of chronic frontal sinusitis with sub-periosteal abscess in the forehead on the right side near the eyebrow. Relevant literature has also been reviewed.

  5. Presentation and management of allergic fungal sinusitis

    International Nuclear Information System (INIS)

    Thahim, K.; Jawaid, M.A.; Marfani, S.

    2007-01-01

    To assess the presentation of allergic fungal sinusitis and describe the line of management in our setup. Culture and sensitivity / fungal stain proven 20 cases of allergic fungal sinusitis were selected for the study, irrespective of age and gender. Data including age, gender, socioeconomic status, signs, symptoms, laboratory findings (especially Immunoglobulin E and eosinophil count) and imaging studies (Computed Tomography and /or Magnetic Resonance Imaging) were noted for the study. Pre and postoperative medical treatment, surgery performed, follow-up; residual/recurrence disease and revised surgery performed were also recorded. In this series, allergic fungal sinusitis was a disease of younger age group with an average age of 20.75 years with male dominance (70%). Poor socioeconomic status (80%), allergic rhinitis (100%) and nasal polyposis (100%) were important associated factors. Nasal obstruction (100%), nasal discharge (90%), postnasal drip (90%) and unilateral nasal and paranasal sinuses involvement (60%) were the commonest presenting features. Aspergillus (60%) was the most common etiological agent. In all cases (100%), increased eosinophil count and IgE levels were present. Orbital (20%) and intracranial (10%) involvement were also seen. Surgical management was preferred in all cases. Functional endoscopic sinus surgery in 90% cases and lateral rhinotomy in 10% cases were performed. Recurrence / residual disease was seen in 20% cases. In this series, allergic fungal sinusitis was seen in immunocompetent, young males, belonging to poor socioeconomic status, suffering from allergic rhinitis and nasal polyposis, presenting with nasal obstruction, nasal discharge and postnasal drip. Functional endoscopic sinus surgery was the most important problem solving procedure while lateral rhinotomy was reserved for extensive disease. (author)

  6. Surgical Outcomes of Cavernous Sinus Syndrome in Pituitary Adenomas.

    Science.gov (United States)

    Fu, Weilun; Duan, Lian; Geng, Sumin

    2017-11-01

    The type of pituitary adenoma with a manifestation that includes cavernous sinus syndrome is rare. Based on the clinical data of 70 patients, this study investigated the pathogenesis, imaging characteristics, and prognostic factors of pituitary adenoma with cavernous sinus syndrome. We conducted a retrospective analysis of the characteristics of patients with pituitary adenoma with cavernous sinus syndrome who received surgical treatment. The patients were classified into different prognosis groups according to the time required for them to recover from the cavernous sinus syndrome. Univariate analyses were conducted for the correlations between the prognosis and factors. Of the 3598 cases of pituitary adenomas, 70 (1.95%) presented cavernous sinus syndrome. Of the patients, 55.7% recovered within 2 weeks of surgery, 24.3% recovered from 2 weeks to 1 year after surgery, and 20% had not returned to normal after more than 1 year after surgery. Univariate analyses showed that shorter disease duration (P syndrome differs depending on the mechanism of the syndrome. There was no significant difference in the prognosis between patients with total pituitary adenoma resection and subtotal resection. Timely surgery within 100 days of symptom occurrence, Knosp grade 0-2, and associated pituitary apoplexy are predictive factors of good prognosis. Copyright © 2017 Elsevier Inc. All rights reserved.

  7. Miller Fisher syndrome with sinus arrest

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    Nobuko Shiraiwa

    2017-08-01

    Full Text Available Dysautonomia in Guillain-Barre syndrome (GBS rarely causes serious cardiovascular complications, such as sinus arrest. Miller Fisher syndrome (MFS is recognized as a variant of GBS. There have been few reports regarding the association between MFS and dysautonomia. We describe a case of a 68-year-old man with ophthalmoplegia, bulbar palsy, truncal ataxia, and areflexia. He was diagnosed with MFS because he exhibited the classical clinical triad and had elevated serum anti- GQ1b immunoglobulin G levels. A magnetic resonance imaging scan of his head was normal. His 24-hour Holter recording showed sinus arrest. He was treated with intravenous immunoglobulin, whereupon his symptoms gradually improved. This included the sinus arrest, which was considered a symptom of dysautonomia in MFS. Therefore, clinicians should be mindful of dysautonomia not only in GBS patients, but also in cases of MFS.

  8. Anaesthetic management of a patient with sick sinus syndrome for ...

    African Journals Online (AJOL)

    Anaesthetic management of a patient with sick sinus syndrome for exploratory laparotomy. S Alex, JP Saneesh, R Rao, M Upadya. Abstract. Sick sinus syndrome is a generalised abnormality of cardiac impulse formation that may be caused either by an intrinsic disease of the sinus node, which makes it unable to perform its ...

  9. Sick Sinus Syndrome After a Single Oral Administration of Garenoxacin

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    Chiyo Sugiyama, MD

    2010-01-01

    Full Text Available This report presents the case of a 60-year-old female who demonstrated sick sinus syndrome after a single administration of Garenoxacin (GRNX. She was administered GRNX for an upper respiratory infection and 10 minutes thereafter, she suddenly felt palpitation and numbness of both arms. She was transferred to the hospital 2 hours after taking GRNX. An electrocardiogram showed bradycardia with junctional escape beats and the longest sinus arrest was 4 seconds. She was treated with a temporary pacemaker and 21 hours after the administration of GRNX her sinus node function was observed to have completely improved. GRNX-induced sick sinus syndrome was suspected because her clinical course was compatible with the concentration of GRNX and her other cardiological assessments, including an electrophysiologic study (EPS which were conducted on the 9th day of the admission, were normal. GRNX has less effect on the QT interval than other quinolone agents. However, physicians should be aware of the risk of sick sinus syndrome because GRNX is frequently prescribed in outpatient clinics.

  10. Cavernous sinus syndrome: need for early diagnosis.

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    Toro, Jaime; Burbano, Lisseth Estefania; Reyes, Saúl; Barreras, Paula

    2015-03-27

    Cavernous sinus syndrome (CSS) is a rare condition characterised by ophthalmoplegia, proptosis, ocular and conjunctival congestion, trigeminal sensory loss and Horner's syndrome. These signs and symptoms result from the involvement of the cranial nerves passing through the cavernous sinus. We report the case of a 53-year-old man with a history of daily stabbing headache associated with dizziness, progressive blurred vision, right ocular pain, ptosis and ophthalmoplegia. After working up the patient, a meningioma was identified as the cause of the CSS. Despite advances in neuroimaging techniques, in some cases, the aetiology of CSS remains difficult to determine. We highlight the clinical and radiological features of a meningioma, one of the causes of CSS. Early diagnosis and treatment of CSS play a key role in a better prognosis. 2015 BMJ Publishing Group Ltd.

  11. Cerebral venous sinus thrombosis presenting with diplopia in pregnancy: a case report

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    Munira Yusoff

    2012-10-01

    Full Text Available Abstract Introduction Cerebral venous sinus thrombosis is a rare condition. The most frequent symptoms and signs are headache, focal seizures with or without secondary generalization, unilateral or bilateral paresis and papilledema. We report a case of transverse sinus and superior sagittal sinus thrombosis that presented with diplopia in a pregnant woman. Case presentation A 34-year-old Malay woman, gravida 3 para 2 at 8 weeks of pregnancy, was admitted for hyperemesis gravidarum, presented with sudden onset of diplopia, blurring of vision and headache. A magnetic resonance scan of her brain showed the presence of cerebral edema with no space occupying lesion, but magnetic resonance venography ultimately revealed right transverse sinus and superior sagittal sinus thrombosis. The patient was treated with anticoagulation for 1 year, after which the patient recovered fully. Conclusion Due to its diverse and varied neurological presentation, cerebral venous sinus thrombosis should be considered in almost any brain syndrome.

  12. Acute pericarditis presenting with sinus bradycardia : A case report

    NARCIS (Netherlands)

    Gosselink, ATM; vandenBerg, MP; Crijns, HJGM

    1997-01-01

    Acute pericarditis is almost invariably associated with sinus tachycardia. Recent-onset chest pain in the presence of (sinus) bradycardia is considered to be associated with an acute ischemic syndrome rather than acute pericarditis. This report describes a patient with acute pericarditis initially

  13. [The role of cardiac pacing therapy in the management of carotid sinus syndrome].

    Science.gov (United States)

    2015-01-01

    Carotid sinus syndrome is characterized by a hypersensitive carotid sinus and syncope. Although we have clear guidelines for the diagnosis and treatment of carotid sinus syndrome, the efficacy of pacing therapy with this indication has not been the subject of many studies. This study aimed to assess the efficacy and safety of pacing therapy in the treatment of patients with carotid sinus syndrome and to determine the factors contributing to symp- toms recurrence after pacemaker implantation. This study was retrospective and included 32 patients in whom a pacemaker was implanted due to carotid sinus syn- drome at the Pacemaker Center, Clinical Center of Serbia, be- tween April 2005 and April 2012. Carotid sinus massage and head-up tilt test (HUTT) were performed to select patients with cardioinhibitory and mixed type carotid sinus syndrome, who were enrolled to the study. The mean age of patients was 65.6 ± 11.5 years and 20 (62.5%) were men. The mean follow-up period was 4.3 ± 1.9 years. HUTT was performed in 3 (9.4%) patients. Twenty-seven (84.4%) patients presented with cardioinhibitory and 5 (15.6%) with mixed type of carotid sinus syndrome. After pacemaker implantation, 22 (68.7%) patients had no further symptoms, 8 (25.0%) had syncope and 2 (6.3%) presyncope.The mixed type of the disease (HR 3.1; 95% CI 1.4-5.1; p = 0.021) and implanta- tion of pacemaker in WI mode (HR 1.8; 95% CI 1.1-3.2; p = 0.034) were independent predictors of symptoms recurrence. There were 3 (9.4%) perioperative surgical complications. Pacemaker therapy is an effective and safe treat- ment for patients with carotid sinus syndrome. As predictors of symptoms persistence after pacemaker implantation in our population, we identified the implantation of pacemaker in WI mode and the mixed type of carotid sinus syndrome.

  14. Anterior sacral pyocele with meningitis: a rare presentation of occult spinal dysraphism with congenital dermal sinus.

    Science.gov (United States)

    Bhatia, Sonal; Tullu, Milind S; Date, Nitin B; Muzumdar, Dattatraya; Muranjan, Mamta N; Lahiri, Keya R

    2010-11-01

    The authors describe an interesting case of a hitherto asymptomatic occult spinal defect with a congenital sacral dermal sinus which proved to be the entry point for bacterial meningitis in an otherwise healthy 9-year-old female child. The patient presented with fever and neck stiffness, and a dermal sinus in the lumbosacral region was identified on examination. Cerebrospinal fluid analysis confirmed bacterial meningitis and a spinal magnetic resonance imaging scan revealed a dermal sinus tract with an anterior spinal meningocele, caudal regression syndrome, and a tethered spinal cord. In addition to administration of intravenous antimicrobial agents, surgical exploration of the sacral dermal sinus tract was performed and an anterior sacral pyocele was drained. The pyocele cavity was disconnected from the thecal sac, and the thickened and fatty filum terminale was sectioned. Although congenital sacral dermal sinus manifesting as bacterial meningitis is known, the occurrence of an anterior sacral pyocele has not yet been described in children.

  15. Unilateral ptosis: an uncommon presentation of chronic sinusitis - A ...

    African Journals Online (AJOL)

    Chronic sinusitis is an inflammatory lesion that involves the paranasal sinuses with symptoms and signs that are beyond 12 weeks in duration. It commonly presents with nasal stuffiness, mouth breathing, purulent nasal discharge, post natal drip, snoring, cough, headache, facial fullness, hyposmia, sore throat and halitosis.

  16. [Permanent cardiac pacing in vasovagal syncope and carotid sinus syndrome].

    Science.gov (United States)

    Dupliakov, D V; Golovina, G A; Zemlianova, M E; Khokhlunov, S M; Poliakov, V P

    2011-01-01

    Vasovagal syncope and carotid sinus syndrome are common conditions in young and elderly people, respectively, mostly with benign prognosis. Nevertheless, severe or "malignant" syncopal attacks in some patients may be associated with life-threatening injury. Unfortunately, up to now almost all drug trials have failed to demonstrate any benefit in preventing syncope and interventional approach (pacemaker) may be appropriate. This article contains literature review and discussion of indications for pacing in vasovagal syncope and carotid sinus syndrome.

  17. Cavernous sinus syndrome secondary to intracranial lymphoma in a cat.

    Science.gov (United States)

    Guevar, Julien; Gutierrez-Quintana, Rodrigo; Peplinski, George; Helm, Jenny R; Penderis, Jacques

    2014-06-01

    Cavernous sinus syndrome is characterised by internal and external ophthalmoplegia and sensory deficits over the head due to combined deficits of the three cranial nerves (CNs) responsible for the eye movements and pupil function (CN III, IV, VI) and at least one branch of the trigeminal nerve (CN V). It has rarely been described in cats and may occur secondarily to inflammatory, infectious or neoplastic lesions within the region of the cavernous sinus on the ventral aspect of the calvarium. This report describes the clinical and magnetic resonance imaging findings in a 14-year-old domestic shorthair cat with neurological deficits compatible with cavernous sinus syndrome caused by presumptive extranodal lymphoma. Treatment with chemotherapy resulted in clinical and imaging remission. Identification of the neurological deficits in cavernous sinus syndrome allows accurate neuroanatomical localisation in order to target diagnostic imaging studies. © ISFM and AAFP 2013.

  18. Complications of Sinusitis

    Science.gov (United States)

    ... Anatomy Virtual Anatomy Disclosure Statement CONDITIONS Adult Sinusitis Pediatric Sinusitis Fungal Sinusitis Sinusitis & Asthma Empty Nose Syndrome Cystic Fibrosis Sinusitis Q&A Complications of Sinusitis Epistaxis (Nosebleeds) Allergic Rhinitis (Hay Fever) Headaches and Sinus Disease Disorders of ...

  19. Complications of Sinus Surgery

    Science.gov (United States)

    ... Anatomy Virtual Anatomy Disclosure Statement CONDITIONS Adult Sinusitis Pediatric Sinusitis Fungal Sinusitis Sinusitis & Asthma Empty Nose Syndrome Cystic Fibrosis Sinusitis Q&A Complications of Sinusitis Epistaxis (Nosebleeds) Allergic Rhinitis (Hay Fever) Headaches and Sinus Disease Disorders of ...

  20. Congenital cervical dermal sinus tract caused tethered cord syndrome in an adult: a case report

    OpenAIRE

    Karatas, Y; Ustun, ME

    2015-01-01

    The objective of this study was to report on a 34-year-old woman who presented with tethered cord syndrome due to dermal sinüs tract. A 34-year-old woman had got dermal sınüs tract admitted to our hospital with swelling on the neck, pain and numbness on the left upper limb. She was treated by surgical removal of dermal sinuses and untethering the spinal cord which is stretched by the dermal sinus. Congenital dermal sinus tracts are uncommon types of cranial and spinal dysraphisms. They can oc...

  1. Recurrent Syncope Due to Carotid Sinus Hypersensitivity and Sick Sinus Syndrome

    Directory of Open Access Journals (Sweden)

    Feng-Yu Kuo

    2008-10-01

    Full Text Available Syncope is a sudden and brief loss of consciousness with postural tone. Its recovery is usually spontaneous. There are various causes of syncope including cardiac, vascular, neurologic, metabolic and miscellaneous origins. The tracing is usually time-consuming and costly. The diagnosis of carotid sinus syncope may sometimes be difficult since the symptoms are nonspecific, especially in older persons. Here, we report the case of a 72-year-old woman who sought medical attention at our hospital due to repeated syncope episodes over the previous 5 years. Neurologic examinations showed negative results (including brain computed tomography. Twenty-four-hour ambulatory electrocardiogram monitoring showed atrial and ventricular premature contractions only. Electrophysiologic study disclosed prolonged corrected sinus node recovery time (1,737 ms with poor atrioventricular conduction. Drop of blood pressure together with sinus bradycardia developed after left side carotid sinus massage. Both carotid sinus hypersensitivity with sick sinus syndrome contributed to this patient's syncope, and after pacemaker placement together with selective serotonin reuptake inhibitor treatment, she was free from syncope thereafter.

  2. The role of cardiac pacing therapy in the management of carotid sinus syndrome

    Directory of Open Access Journals (Sweden)

    Radovanović Nikola

    2015-01-01

    Full Text Available Introduction. Carotid sinus syndrome is characterized by a hypersensitive carotid sinus and syncope. Although we have clear guidelines for the diagnosis and treatment of carotid sinus syndrome, the efficacy of pacing therapy with this indication has not been the subject of many studies. Objective. This study aimed to assess the efficacy and safety of pacing therapy in the treatment of patients with carotid sinus syndrome and to determine the factors contributing to symptoms recurrence after pacemaker implantation. Methods. This study was retrospective and included 32 patients in whom a pacemaker was implanted due to carotid sinus syndrome at the Pacemaker Center, Clinical Center of Serbia, between April 2005 and April 2012. Carotid sinus massage and head-up tilt test (HUTT were performed to select patients with cardioinhibitory and mixed type carotid sinus syndrome, who were enrolled to the study. Results. The mean age of patients was 65.6±11.5 years and 20 (62.5% were men. The mean follow-up period was 4.3±1.9 years. HUTT was performed in 3 (9.4% patients. Twenty-seven (84.4% patients presented with cardioinhibitory and 5 (15.6% with mixed type of carotid sinus syndrome. After pacemaker implantation, 22 (68.7% patients had no further symptoms, 8 (25.0% had syncope and 2 (6.3% presyncope. The mixed type of the disease (HR 3.1; 95% CI 1.4-5.1; p=0.021 and implantation of pacemaker in VVI mode (HR 1.8; 95%CI 1.1-3.2; p=0.034 were independent predictors of symptoms recurrence. There were 3 (9.4% perioperative surgical complications. Conclusion. Pacemaker therapy is an effective and safe treatment for patients with carotid sinus syndrome. As predictors of symptoms persistence after pacemaker implantation in our population, we identified the implantation of pacemaker in VVI mode and the mixed type of carotid sinus syndrome.

  3. Sinusitis and intracranial sepsis: the CT imaging and clinical presentation

    International Nuclear Information System (INIS)

    Saxton, V.J.; Boldt, D.W.; Shield, L.K.

    1995-01-01

    The CT imaging and clinical presentation in 14 children with coexistent intracranial sepsis and sinusitis were reviewed. A routine CT head scan (10-mm thick semi-axial slices through the cranium done before and after intravenous contrast medium administration) was found to be an inadequate initial investigation as the intracranial collection was missed in four patients and the abnormal sinuses not shown in six. In half the children the dagnosis of sinusitis was unsuspected at the time of admission. The dominant clinical features were fever, intense headache and facial swelling in early adolescent males. In this clinical setting we recommend: (1) The routine scan is extended through the frontal and ethmoidal sinuses and photographed at a window level and width showing both bone detail and air/soft tissue interfaces; (2) direct coronal projections are performed through the anterior cranial fossa if no collection is seen on the routine study; (3) an early repeat scan within 48 h if the initial study shows no intracranial pathology but the fronto-ethomoidal sinuses are abnormal and there is a high clinical supicion of intracranial sepsis; and (4) in the presence of intracranial sepsis the vault is viewed at bone window settings to exclude cranial osteomyelitis. (orig.)

  4. Cavernous sinus syndrome due to osteochondromatosis in a cat.

    Science.gov (United States)

    Perazzi, Anna; Bernardini, Marco; Mandara, Maria T; De Benedictis, Giulia M; De Strobel, Francesca; Zotti, Alessandro

    2013-12-01

    A 1-year-old sexually intact male Korat cat was referred for ophthalmological consultation due to anisocoria. Mydriasis with external ophthalmoplegia and absence of pupillary light responses in the right eye and nasofacial hypalgesia were seen. Cavernous sinus syndrome (CSS) was suspected. Bilateral deformities of the jaw and phalangeal bones, severe spinal pain and abnormal conformation of the lumbar spine were also present. Radiographic examination revealed several mineralised masses in the appendicular and axial skeleton, indicative of multiple cartilaginous exostoses. For further investigation of the CSS-related neurological deficits, the cat underwent computed tomography (CT) examination of the skull. CT images revealed a non-vascularised, calcified, amorphous mass originating from the right lateral skull base and superimposing on the sella turcica. Based on the severity of diffuse lesions and owing to the clinical signs of extreme pain, the cat was euthanased. A diffuse skeletal and intracranial osteochondromatosis was diagnosed histologically.

  5. TOLOSA-HUNT SYNDROME MIMICKING AS ORBITAL COMPLICATION OF SINUSITIS

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    Raveendra . Gadag

    2014-12-01

    Full Text Available The Tolosa – Hunt syndrome is a rare, benign condition characterized by severe unilateral headache with extraocular palsies, orbital pain caused by nonspecific granulomatous inflammation in the cavernous sinus, superior orbital fissure or the orbit. (1-4 The incidence of Tolosa - Hunt syndrome has been estimated as approximately one to two cases per million. The etiology of the syndrome is largely unknown and it can affect people of virtually any age, with no sex predilection. It is usually unilateral, with no predisposition for right or left side; it has been reported as bilateral in 4.1-5 % cases. (2, 4 We report a rare case of Tolosa-Hunt syndrome which was misdiagnosed as sinusitis with orbital complication. The clinical features, diagnostic investigation and the importance of magnetic resonance imaging (MRI studies in the differentiation of the condition are addressed.

  6. Cerebral sinus thrombosis in an infant with Prader-Willi syndrome and literature review

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    Ilias Chatziioannidis

    2013-04-01

    Full Text Available A full-term male neonate from a first pregnancy of two clinical non-consanguineous parents was born at 40 weeks of gestation with cesarean section. He was admitted at 2 hours of life to our III level Neonatal Intensive Care Unit due to generalized hypotonia, presenting at birth. Cerebral ultrasound showed a temporal bilateral aspecific alteration of the parenchimal echogenicity, whereas a magnetic resonance imaging/venography revealed an extensive cerebral sinus thrombus. Extensive diagnostic studies for prothrombotic disorders showed negative results, even if there was an alterated haemostatic screening. Persistency of hypotonia led us to investigate Prader-Willi syndrome among others. Methylation analysis confirmed the diagnosis. This is the third report associating cerebral venous thrombosis and Prader-Willi syndrome, confirming sinus thrombosis as a possible presentation of this syndrome. A review of the literature is provided in order to disclose possible similarities and differences in Prader-Willi syndrome patients with cerebral sinovenus thrombosis.

  7. Congenital cervical dermal sinus tract caused tethered cord syndrome in an adult: a case report.

    Science.gov (United States)

    Karatas, Y; Ustun, M E

    2015-01-01

    The objective of this study was to report on a 34-year-old woman who presented with tethered cord syndrome due to dermal sinüs tract. A 34-year-old woman had got dermal sınüs tract admitted to our hospital with swelling on the neck, pain and numbness on the left upper limb. She was treated by surgical removal of dermal sinuses and untethering the spinal cord which is stretched by the dermal sinus. Congenital dermal sinus tracts are uncommon types of cranial and spinal dysraphisms. They can occur in the midline of the craniospinal axis from the occiput to the sacral region. For dermal sinuses, cervical region is very rare location that is reported in the literature. They are diagnosed usually in childhood with skin signs, neurological deficits, local infections and meningitis. We present a rare case of dermal sinus tract located in cervical region. Early diagnosis and treatment of cervical dermal sinus tract are important to prevent neurological deficits.

  8. Cryptococcal meningitis presenting as sinusitis in a renal transplant recipient.

    Science.gov (United States)

    Iyer, S P; Movva, K; Wiebel, M; Chandrasekar, P; Alangaden, G; Carron, M; Tranchida, P; Revankar, S G

    2013-10-01

    Cryptococcal meningitis is a relatively common invasive fungal infection in immunocompromised patients, especially in solid organ transplant recipients. Clinical presentation typically includes fever, headache, photophobia, neck stiffness, and/or altered mental status. Unusual presentations may delay diagnosis. Therapy is challenging in renal transplant patients because of the nephrotoxicity associated with amphotericin B, the recommended treatment. We present a case of cryptococcal meningitis in a renal transplant recipient presenting as acute sinusitis with successful treatment using fluconazole as primary therapy. © 2013 John Wiley & Sons A/S.

  9. Hereditary protein S deficiency presenting with cerebral sinus thrombosis in an adolescent girl

    NARCIS (Netherlands)

    Koelman, J. H.; Bakker, C. M.; Plandsoen, W. C.; Peeters, F. L.; Barth, P. G.

    1992-01-01

    A 14-year-old girl, on oral contraceptives for 3 months, presented with cerebral sinus thrombosis. Investigation revealed underlying hereditary protein S deficiency. This uncommon cause of cerebral sinus thrombosis and the possible association with oral contraceptives are discussed

  10. Recurrent inverted papilloma of paranasal sinus presenting as acute proptosis.

    Science.gov (United States)

    Prabhakar, S K; Bharathi, M B; Singhal, Anuj Kumar

    2016-01-01

    Objective. To describe the course of events that followed from the time of the diagnosis to the management of a rare case of recurrent inverted papilloma presenting as an acute proptosis. Methods. A seventy-year-old diabetic female patient presented with a painful left eye proptosis for 15 days. She had a history of resection of inverted papilloma of paranasal sinus followed by radiotherapy for eight years before. The examination revealed a 23 mm proptosis, with restricted ocular movements, corneal oedema, funnel shaped anterior chamber, and total retinal detachment with a complete visual loss. The lobulated fixed hard mass was palpable circumferentially but more in the inferior orbital compartment. The transconjunctival incisional biopsy showed features of highly undifferentiated cytology. The lid sparing exenteration was done under general anesthesia with cosmetic reconstruction. Results. Immunohistochemistry of exenterated mass was doubtfully suggestive of a small cell tumor. However, histopathology confirmed features of rhabdomyosarcoma. Conclusion. The present case study revealed rhabdomyosarcoma cytology presenting as an association-inverted papilloma. Abbreviations : IP = Inverted papilloma, PNS = Paranasal sinus, SCC = Squamous cell carcinoma, IOP = Intraocular pressure, CT = Computed tomography.

  11. Conns' syndrome - atypical presentations

    International Nuclear Information System (INIS)

    Kumar, K V S Hari; Modi, K D; Jha, Sangeeta; Jha, Ratan

    2009-01-01

    Primary hyperaldosteronism (Conns' syndrome) commonly presents with a combination of clinical features of hypokalemia and hypertension. Atypical presentations like normotension, normokalemia and neurological ailments are described in few cases. We encountered two such cases, the first presenting with acute neurological complaint and second case having insignificant hypertension. Both the patients had a characteristic biochemical and imaging profile consistent with primary hyperaldosteronism and responded to surgical resection of adrenal adenoma. (author)

  12. Pacemaker implantation in a patient with brugada and sick sinus syndrome

    DEFF Research Database (Denmark)

    Risgaard, Bjarke; Bundgaard, Henning; Jabbari, Reza

    2013-01-01

    Brugada syndrome (BrS) is a rare and inherited primary arrhythmic syndrome characterized by ST-segment elevations in the right precordial leads (V1-V3) with an increased risk of sudden cardiac death (SCD). Arrhythmias in BrS are often nocturne, and brady-arrhythmias are often seen in patients...... with loss-of-function mutations in SCN5A. In this case-report we present a 75-year old woman referred to our outpatient clinic for inherited cardiac diseases for a familial clinical work-up. Since childhood she had suffered from dizziness, absence seizures, and countless Syncope's. In 2004 sick sinus...

  13. Haematopoietic tissue presenting as a sphenoid sinus mass: case report

    International Nuclear Information System (INIS)

    Joseph, M.; Rajshekhar, V.; Chandy, M.J.

    2000-01-01

    We report an incidentally discovered mass in the sphenoid sinus in a patient with beta thalassaemia and sickle-cell disease which proved to be an isolated site of extramedullary haematopoiesis in the skull. (orig.)

  14. Haematopoietic tissue presenting as a sphenoid sinus mass: case report

    Energy Technology Data Exchange (ETDEWEB)

    Joseph, M.; Rajshekhar, V.; Chandy, M.J. [Dept. of Neurological Sciences, Christian Medical College Hospital, Vellore (India)

    2000-02-01

    We report an incidentally discovered mass in the sphenoid sinus in a patient with beta thalassaemia and sickle-cell disease which proved to be an isolated site of extramedullary haematopoiesis in the skull. (orig.)

  15. Cavernous sinus syndrome due to rhino-orbital-cerebral mucormycosis

    Directory of Open Access Journals (Sweden)

    Vagner Moyses Vilela

    2013-06-01

    Full Text Available The present report describes the case of a 43-year-old diabetic patient with facial pain, protruding eyes, nasal congestion and decreased right vision (involvement of the ipsilateral cranial nerves III, IV and V. Computed tomography showed diffuse sinusitis at right, cribriform plate erosion and presence of a hypodense collection in the frontal lobe with peripheral enhancement. Magnetic resonance imaging confirmed the presence of a cerebral abscess. Samples were collected from the lesion, confirming hyphae compatible with mucormycosis.

  16. Spontaneous upper eyelid ecchymosis: A rare presenting sign for frontal sinus mucocele.

    Science.gov (United States)

    Mehta, Amy A; Wagner, Lilly H; Blace, Nancy

    2017-06-01

    Paranasal sinus mucoceles are benign lesions that commonly present with orbital signs due to their anatomic proximity. We are reporting a case of bilateral frontal sinus mucocele presenting with spontaneous eyelid ecchymosis. To our knowledge this is the first case report of eyelid ecchymosis as the initial sign of this condition. In addition, our patient lacked commonly described symptoms such as diplopia or pain. This report highlights the importance of including frontal sinus mucocele in the differential diagnosis of spontaneous periorbital ecchymosis.

  17. Sphenoid sinus carcinoid tumour causing ectopic ACTH syndrome.

    Science.gov (United States)

    Perera, Sanjaya; Taha, Ahmad

    2017-05-01

    A thirty-eight year old patient presented with a gradual increase in weight and Cushingoid facies of two years duration. He also had orbital congestion, with puffy eyelids and corkscrew conjunctival vessels, associated with painful eye movements. An endocrine evaluation revealed raised cortisol and ACTH. Head imaging was performed which showed an enhancing tumour arising from the sphenoid sinus, with osseous erosion of the sphenoid sinus, extending to the nasopharynx, sellar and a small amount extending intracranially. He underwent an endoscopic endonasal resection of the tumour and histology revealed a low-grade carcinoid tumour with ACTH staining. The patient also underwent radiotherapy for the intracranial extension. He is currently in his fourth year of follow-up and imaging has showed a small, stable intracranial remnant. His anterior pituitary hormonal profile remains normal. Copyright © 2017 Elsevier Ltd. All rights reserved.

  18. Carotid sinus syndrome and cardiovagal regulation in elderly patients with suspected syncope-related falls

    DEFF Research Database (Denmark)

    Brinth, Louise; Latif, Tabassam; Pors, Kirsten

    2014-01-01

    Background: Falls and syncope in the elderly may be caused by hypersensitivity in the high-pressure baroreflex control - carotid sinus syndrome (CSS). The pathophysiological process causing CSS remains poorly understood. Methods: We studied the hemodynamic response to carotid sinus massage (CSM...

  19. Superior sagittal sinus thrombosis: a rare complication in a child with nephrotic syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Pirogovsky, A.; Adi, M.; Barzilai, N. [Dept. of Radiology, Kaplan Medical Center, Rehovot (Israel); Dagan, A.; Sinai, L.; Sthoeger, D. [Div. of Paediatrics, Kaplan Medical Center, Rehovot (Israel); Tabachnik, E. [Div. of Paediatrics, Kaplan Medical Center, Rehovot (Israel); Paediatric ICU, Kaplan Hospital, Rehovot (Israel)

    2001-10-01

    A 2-year-old boy with new-onset nephrotic syndrome developed recurrent vomiting, apathy and papilloedema. Superior sagittal sinus thrombosis was diagnosed on cranial CT and MRI. He gradually recovered after treatment with heparin, fresh frozen plasma and warfarin with complete resolution of the thrombosis after 1 month. Superior sagittal sinus thrombosis is an extremely rare complication of nephrotic syndrome in children. Early diagnosis is essential for institution of anticoagulation therapy and a successful outcome. (orig.)

  20. Superior sagittal sinus thrombosis: a rare complication in a child with nephrotic syndrome

    International Nuclear Information System (INIS)

    Pirogovsky, A.; Adi, M.; Barzilai, N.; Dagan, A.; Sinai, L.; Sthoeger, D.; Tabachnik, E.

    2001-01-01

    A 2-year-old boy with new-onset nephrotic syndrome developed recurrent vomiting, apathy and papilloedema. Superior sagittal sinus thrombosis was diagnosed on cranial CT and MRI. He gradually recovered after treatment with heparin, fresh frozen plasma and warfarin with complete resolution of the thrombosis after 1 month. Superior sagittal sinus thrombosis is an extremely rare complication of nephrotic syndrome in children. Early diagnosis is essential for institution of anticoagulation therapy and a successful outcome. (orig.)

  1. Hepatocellular carcinoma presenting as an isolated sphenoid sinus lesion: a case report.

    Science.gov (United States)

    Tandon, Shantanu; Nair, Arun; Sawkar, Anisha; Balasubramanya, A M; Hazarika, Diganta

    2012-01-01

    We report a rare case of a metastatic sphenoid sinus lesion originating from an undiagnosed hepatocellular carcinoma (HCC) in a 53-year-old man who presented with gradually progressive external ophthalmoplegia. Imaging showed a right sphenoid sinus lesion infiltrating the parasellar region. Although a primary sphenoid biopsy was inconclusive, positive hepatitis B surface antigen and CT-guided fine-needle aspiration cytology suggested an HCC. A repeat endoscopic biopsy from the sphenoid with immunohistochemistry confirmed the lesion to be metastatic HCC. Metastasis to the paranasal sinuses is extremely rare, and metastasis from a liver primary even more rare. Because of clinical and radiologic similarity between the primary and metastatic lesions, metastasis to the sphenoid sinus is often undiagnosed. Patients with features suggestive of sphenoid sinus malignancy should also be evaluated for the possibility of a metastatic tumor. In this article, we emphasize the rarity of the tumor, the unusual presenting symptoms, and problems with early diagnosis.

  2. HELLP Syndrome and Cerebral Venous Sinus Thrombosis Associated with Factor V Leiden Mutation during Pregnancy

    Directory of Open Access Journals (Sweden)

    Zeynep Ozcan Dag

    2014-01-01

    Full Text Available Preeclampsia is a leading cause of maternal mortality and morbidity worldwide. The neurological complications of preeclampsia and eclampsia are responsible for a major proportion of the morbidity and mortality for women and their infants alike. Hormonal changes during pregnancy and the puerperium carry an increased risk of venous thromboembolism including cerebral venous sinus thrombosis (CVST. Factor 5 leiden (FVL is a procoagulant mutation associated primarily with venous thrombosis and pregnancy complications. We report a patient with FVL mutation who presented with CVST at 24th week of pregnancy and was diagnosed as HELLP syndrome at 34th week of pregnancy.

  3. Papilledema secondary to a superior sagittal sinus thrombosis. Mantle cell lymphoma paraneoplastic syndrome.

    Science.gov (United States)

    Platas-Moreno, I; Antón-Benito, A; Pérez-Cid-Rebolleda, M T; Rosado Sierra, M B

    2016-01-01

    A 46 year old patient presented with visual loss in the left eye during the previous months. Ophthalmoscopic examination and magnetic resonance angiography found the presence of papilledema due to thrombosis in superior sagittal sinus. The examination findings revealed a mantle cell lymphoma. Cerebral venous thrombosis is an unusual cause of papilledema. This type of thrombosis may be secondary to hyper-viscosity within a context of a paraneoplastic syndrome. Copyright © 2015 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.

  4. Sigmoid and transverse sinus thrombosis after closed head injury presenting with unilateral hearing loss

    International Nuclear Information System (INIS)

    Brors, D.; Schaefers, M.; Schick, B.; Draf, W.; Dazert, S.

    2001-01-01

    Sinus thrombosis has rarely been associated with closed head injury; more often, thrombosis of the sigmoid or transverse sinus is caused by otogenic inflammations or tumours, or occurs during pregnancy. Symptoms are frequently vague, while untreated thrombus progression may be fatal due to venous congestion and infarction. We report a 32-year-old man presenting with right hearing loss, tinnitus and headache 2 days after a closed head injury. Neurological examination showed no additional abnormality. The EEG showed focal bifrontal slowing. CT revealed a fracture of the occipital bone. MRI and MRA demonstrated complete thrombosis of the right sigmoid and transverse sinuses. After 2 weeks of intravenous heparin therapy followed by warfarin, the patient's hearing improved and MRI and MRA showed complete recanalisation of the sigmoid and transverse sinuses. Venous sinus thrombosis can be an undetected sequel to head injury. Appropriate imaging studies should be carried out to enable therapy to be started as soon as possible. (orig.)

  5. Sigmoid and transverse sinus thrombosis after closed head injury presenting with unilateral hearing loss

    Energy Technology Data Exchange (ETDEWEB)

    Brors, D. [Univ. Hospital Wuerzburg (Germany). Dept. of Oto-Rhino-Laryngology, Head- and Neck-Surgery; Dept. of Ear, Nose and Throat Diseases, Head, Neck and Facial Plastic Surgery, Klinikum Fulda (Germany); Schaefers, M. [Dept. of Neurology, University Hospital Wuerzburg (Germany); Schick, B.; Draf, W. [Dept. of Ear, Nose and Throat Diseases, Head, Neck and Facial Plastic Surgery, Klinikum Fulda (Germany); Dazert, S. [Univ. Hospital Wuerzburg (Germany). Dept. of Oto-Rhino-Laryngology, Head- and Neck-Surgery; Kahle, G. [Department of Radiology, Hospital Fulda (Germany)

    2001-02-01

    Sinus thrombosis has rarely been associated with closed head injury; more often, thrombosis of the sigmoid or transverse sinus is caused by otogenic inflammations or tumours, or occurs during pregnancy. Symptoms are frequently vague, while untreated thrombus progression may be fatal due to venous congestion and infarction. We report a 32-year-old man presenting with right hearing loss, tinnitus and headache 2 days after a closed head injury. Neurological examination showed no additional abnormality. The EEG showed focal bifrontal slowing. CT revealed a fracture of the occipital bone. MRI and MRA demonstrated complete thrombosis of the right sigmoid and transverse sinuses. After 2 weeks of intravenous heparin therapy followed by warfarin, the patient's hearing improved and MRI and MRA showed complete recanalisation of the sigmoid and transverse sinuses. Venous sinus thrombosis can be an undetected sequel to head injury. Appropriate imaging studies should be carried out to enable therapy to be started as soon as possible. (orig.)

  6. Sinus Venosus Atrial Septal Defect Complicated by Eisenmenger Syndrome and the Role of Vasodilator Therapy

    Directory of Open Access Journals (Sweden)

    Amornpol Anuwatworn

    2016-01-01

    Full Text Available Sinus venosus atrial septal defect is a rare congenital, interatrial communication defect at the junction of the right atrium and the vena cava. It accounts for 5–10% of cases of all atrial septal defects. Due to the rare prevalence and anatomical complexity, diagnosing sinus venous atrial septal defects poses clinical challenges which may delay diagnosis and treatment. Advanced cardiac imaging studies are useful tools to diagnose this clinical entity and to delineate the anatomy and any associated communications. Surgical correction of the anomaly is the primary treatment. We discuss a 43-year-old Hispanic female patient who presented with dyspnea and hypoxia following a laparoscopic myomectomy. She had been diagnosed with peripartum cardiomyopathy nine years ago at another hospital. Transesophageal echocardiography and computed tomographic angiography of the chest confirmed a diagnosis of sinus venosus atrial septal defect. She was also found to have pulmonary arterial hypertension and Eisenmenger syndrome. During a hemodynamic study, she responded to vasodilator and she was treated with Ambrisentan and Tadalafil. After six months, her symptoms improved and her pulmonary arterial hypertension decreased. We also observed progressive reversal of the right-to-left shunt. This case illustrates the potential benefit of vasodilator therapy in reversing Eisenmenger physiology, which may lead to surgical repair of the atrial septal defect as the primary treatment.

  7. Unusual presentation of Klinefelter syndrome

    Science.gov (United States)

    Das, Chanchal; Sahana, Pranab Kumar; Sengupta, Nilanjan; Roy, Mukut; Dasgupta, Ranen

    2013-01-01

    Introduction: Klinefelter syndrome usually presents in the puberty and adulthood with its characteristic features. We report a boy who had Klinefelter syndrome with hypospadias and hydrocele. Case Note: Six and half year old boy had complaints of genitourinary problem in the form of hypospadias, small phallus and hydrocele. Karyotyping showed 47,XXY. Conclusion: This case illustrates that Klinefelter syndrome was presented in the infancy with hypospadias and hydrocele which are very uncommon presentation of the disease PMID:24910838

  8. A Functional Assay for Sick Sinus Syndrome Genetic Variants

    Directory of Open Access Journals (Sweden)

    Chuanchau J. Jou

    2017-08-01

    Full Text Available Background/Aims: Congenital Sick Sinus Syndrome (SSS is a disorder associated with sudden cardiac death due to severe bradycardia and prolonged pauses. Mutations in HCN4, the gene encoding inward Na+/K+ current (If, have been described as a cause of congenital SSS. The objective of this study is to develop an SSS model in embryonic zebrafish, and use zebrafish as a moderate-throughput assay to functionally characterize HCN4 variants. Methods: To determine the function of hcn4 in zebrafish, embryos were either bathed in the If -specific blocker (ZD-7288, or endogenous hcn4 expression was knocked down using splice-blocking morpholinos. To assess whether the zebrafish model discriminates benign from pathogenic variants, we tested four HCN4 mutations known to cause human SSS and four variants of unknown significance (VUS. Results: Pharmacological blockade and knockdown of hcn4 in zebrafish phenocopied human SSS, displaying bradycardia and cardiac pauses in intact embryos and explanted hearts. The zebrafish assay correctly identified all disease-causing variants. Of the VUS, the assay predicted 2 as benign and 2 as hypomorphic variants. Conclusions: We conclude that our embryonic zebrafish assay is a novel and effective tool to functionally characterize human HCN4 variants, which can be translated into important clinical prognostic information.

  9. Hyperthyroidism and Sick Sinus Syndrome, a Rare but Challenging ...

    African Journals Online (AJOL)

    2017-09-14

    Sep 14, 2017 ... drug methimazole and 50 mg metoprolol succinate was started with good clinical evolution. After 3 days of therapy, the patient claimed dizziness and on the clinical examination, sinus bradycardia, 44 b/min, was noted. On Holter-ECG monitoring, the episodes of extreme sinus bradycardia, 32 b/min with five ...

  10. Atypical presentations of Wolframs syndrome

    Directory of Open Access Journals (Sweden)

    S Saran

    2012-01-01

    Full Text Available Background: Wolfram syndrome is a rare hereditary or sporadic neurodegenerative disorder also known as DIDMOAD. The classically described presentation is of insulin-dependent diabetes, followed by optic atrophy, central diabetes insipidus, and sensory neural deafness. Also included are less well-described presentations of Wolframs syndrome. We here present three cases of atypical presentation of this syndrome. Case 1: A 15-year-old boy with insulin-dependent diabetes was presented for evaluation of depressive symptoms associated with suicidal tendency. Neuropsychiatric manifestations are described with Wolframs syndrome, and wolframin gene, in recessive inheritance, is associated with psychiatric illnesses without other manifestations of Wolframs syndrome. Case 2: A 17-year-old diabetic boy on insulin with good control of blood sugar presented for evaluation of delayed puberty. Central hypogonadism and other anterior pituitary hormone dysfunctions are the less publicized hormone dysfunctions in Wolframs syndrome. Case 3: A 23-year-old female who was on insulin for diabetes for the past 14 years, got admitted for evaluation of sudden loss of vision. This patient had developed a vitreous hemorrhage and, on evaluation, was found to have optic atrophy, sensory neural hearing loss, and diabetes insipidus, and presented differently from the gradual loss of vision described in Wolframs syndrome. Conclusion: Wolframs syndrome being a multisystem degenerative disorder can have myriad other manifestations than the classically described features. Neuropsychiatric manifestations, depression with suicidal risk, central hypogonadism, and secondary adrenal insufficiency are among the less well-described manifestations of this syndrome.

  11. Endoscopic Sinus Surgery for Treatment of Kartagener Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Xinghua Tang

    2013-06-01

    Full Text Available Background: Kartagener syndrome (KS is a rare congenital disease characterised by a clinical triad of symptoms: situs inversus, chronic rhinosinusitis, and bronchiectasis. Although congenital ciliary defect is recognised as the main cause of this syndrome, it remains difficult to treat the associated airway infection. Case Report: A 17-year-old female patient presented with repeated refractory airway infection. She also had bronchiectasis and situs inversus. Electron microscopic evaluation of her nasal mucosa revealed ciliary defect and confirmed the diagnosis of KS. She underwent functional endoscopic sinus surgery (FESS followed by long-term postoperative debridement of the sinonasal cavity. This treatment reduced chronic rhinosinusitis and protected against subsequent airway infection in a 7-year follow-up. Conclusion: FESS is effective for relieving both chronic rhinosinusitis and lung infection of KS in the long term.

  12. Poliostotic fibrous dysplasia in the left maxilla sinus. Case of presentation.

    OpenAIRE

    Félix Dueñas Ros; Nery María Díaz Yanes; Dianarelys Villafuerte Delgado

    2007-01-01

    We present a clinic case of poliostotic fibrous dysplasia in the left maxilla sinus extended to Pterigopaltinar cavity and sphenoid sinus in a 26 year old woman who suffer from facial deformation. Paranasal x ray images didn’t permit to make the differential diagnosis between tumor or inflammatory lesions at the beginning, CT scan showed hiperdensy lesions like a tumor that suggest fibrous dysplasia. The final diagnosis was obtained by biopsy of the lesions.

  13. Cemento-ossifying Fibroma Of Paranasal Sinus Presenting Acutely As Orbital Cellulitis.

    Science.gov (United States)

    Khanna, Maneesh; Buddhavarapu, Shanker Rao; Hussain, Sheik Akbar; Amir, Emran

    2009-01-01

    Fibro-osseous lesions of the face and paranasal sinuses are relatively uncommon. These lesions have overlapping clinical, radiologic and pathologic features causing difficulty in diagnosis. Neoplastic fibro-osseous paranasal sinus lesions can be benign or malignant. The benign fibro-osseous lesions described are: ossifying fibroma (and its histologic variants) and fibrous dysplasia. The variants of ossifying fibroma differ in the nature of calcified material (i.e. cementum versus bone), in the location of the lesion (oral versus paranasal sinus or orbital), other morphologic variations (presence of psammomatoid concretions) and biologic behavior (aggressive versus stable). Presence of cementum or bone classifies the lesion as cementifying fibroma or ossifying fibroma respectively while lesions with mixture of both cementum and bone are called cemento-ossifying fibroma. We describe a case of a young adult male with cemento-ossifying fibroma of paranasal sinus presenting acutely as left orbital cellulitis with proptosis.

  14. Analysis of clinical features of ocular presentation in cranial venous sinus thrombosis

    Directory of Open Access Journals (Sweden)

    Wang D

    2011-07-01

    Full Text Available Abstract Background To recognize ocular presentations in cranial venous sinus thrombosis (CVST which were easy to be misdiagnosis. Design Retrospective study. Methods Review clinical informations including general informations, general performances, and ocular presentations of 118 inpatients with CVST in the general hospital of chinese people's liberation army during 2005-2009. Main Outcome Measures The ocular symptoms as the initial onset presentations or simultaneous phenomenon among different onset type patients were analyzed. Results Of all the CVST patients, 21.2% (25/118 presented with ocular symptom as the initial presentation, 30.5% (36/118 presented with ocular symptom as well as the other symptoms, and 48.3% (57/118 presented with non-ocular symptoms as the initial onset. The CVST patients were divided into 3 groups according to the onset type. There was no marked statistical significance among groups. The most common major complaints were blurring and degeneration of acute vision, accounting for 85.9% (61/71 of all abnormal ocular chief complaints. The most common objective sign in eyes was papilloedema, accounting for 48.3% (57/118 in this group of CVST patients. About 22.4% (13/58 showed acute vision deterioration at 1-year follow-up, due to optic atrophy. Conclusions As ophthalmologists, we should master the onset characteristics and clinical manifestations of CVST. Early diagnosis and treatment is very important for the prevention of vision deterioration, especially for patients with ocular syndrome as the initial onset syndrome. For isolated agnogenic intracranial hypertension, we should consider the possibility of CVST.

  15. Long term effects of cilostazol in a dog with sick sinus syndrome.

    Science.gov (United States)

    Kanno, Nobuyuki; Suzuki, Tomohiro

    2017-06-16

    Sick sinus syndrome (SSS) is a type of bradyarrhythmia that can lead to syncope. Cilostazol has been reported to be an effective treatment for human patients with SSS and other bradyarrhythmias. This report describes the successful long-term treatment with cilostazol in a dog with SSS. A nine-year old intact male Miniature Schnauzer presented with a history of syncopal episodes and unsteady gait. After cilostazol treatment, the total heart rate (HR), mean HR, and frequency of premature ventricular contractions (PVCs) increased, while the maximum HR and maximum pause time decreased. Additionally, the number of syncopal episodes decreased. The dog died suddenly, 1,418 days after the start of cilostazol treatment. Cilostazol may be a useful therapeutic agent in canines with SSS.

  16. Cavernous sinus thrombosis syndrome and brainstem involvement in patient with leptospirosis: Two rare complications of leptospirosis

    Directory of Open Access Journals (Sweden)

    Shahriyar Alian

    2014-01-01

    Full Text Available Leptospirosis is a bacterial disease that is caused by pathogenic spirochetes of the genus Leptospira. It can affect humans and animals. In humans, it can lead to a wide spectrum of symptoms. It is known as the most common zoonosis in the world. The typical presentation of the disease is an acute biphasic febrile illness with or without jaundice. Less common clinical manifestations may result from involvement of different human body systems. In many places, this disease may be under-diagnosed, especially when associated with neurological complications. Moreover, without treatment, leptospirosis can lead to organ damages, and even death. Neurological complications are uncommon and are reported in a few cases. Cavernous sinus thrombosis syndrome and brainstem involvement are rare complications of leptospirosis and are associated with a high mortality risk. To our knowledge, no such cases have been reported in the literature.

  17. RUPTURE OF SINUSES OF VALSALVA ANEURYSM PRESENTING AS CHRONIC HEART FAILURE - TWO CASE REPORT

    Directory of Open Access Journals (Sweden)

    Soma

    2015-11-01

    Full Text Available INTRODUCTION Ruptured sinuses of valsalva aneurysm (RSVA are a rare entity with varied clinical presentation, one of the rare complications is chronic heart failure. 1 Here we describe two cases of RSVA of right coronary sinus ruptured into right ventricle presented with features of right heart failure. CASE 1 35-year-old male with low-effort dyspnoea, nocturnal paroxysmal dyspnoea, orthopnoea, continuous murmur in left 3rd ICS, hepatomegaly and edema of the lower extremities. CASE 2 30-year-old female with dyspnoea on exertion NYHA class II-III, nocturnal paroxysmal dyspnoea, orthopnoea, diastolic murmur, congestive hepatic insufficiency, peripheral oedema diagnosed by trans thoracic Echocardiography.

  18. Update on the role of pacemaker therapy in vasovagal syncope and carotid sinus syndrome.

    Science.gov (United States)

    Parry, Steve W; Matthews, Iain G

    2013-01-01

    Vasovagal syncope (VVS) and carotid sinus syndrome (CSS) are related, neurally mediated disorders with different clinical features and treatment implications. Pacemaker intervention studies in both syndromes are hampered by a dearth of randomized, controlled (particularly with placebo) studies, unfortunate premature termination of studies, and variation in both the clinical presentation and cardiovascular profile of patients enrolled. Given this relatively limited evidence base, pacing therapy in VVS should be reserved for older sufferers with relatively frequent symptoms and spontaneous asystole documented during real-life monitoring. The long term course of patients paced for vasovagal syncope needs clarification, both in terms of symptom and device-related burden, while a comprehensive health economic evaluation of the costs and benefits of such an invasive approach for this usually benign condition is essential. It will also be important to determine the efficacy of closed loop stimulation pacing in an adequately powered study, including a comparison with standard pacing. Pacing should be considered in those with unexplained syncope with reproduction of symptoms during a cardio-inhibitory or mixed response to carotid sinus massage (asystole >3 s), though the evidence base for this recommendation is firmly in the consensus rather than pragmatic randomized controlled trial camp. Patients presenting with unexplained falls and drop attacks, particularly where injuries are prominent and where patients cannot give a clear account of their fall ("I just ended up on the floor, didn't slip or trip"), should also be considered for pacing. Pacing is not recommended for the vasodepressor sub-type of CSS. Copyright © 2013. Published by Elsevier Inc.

  19. Coexistence of dermal sinus tract, dermoid cyst, and encephalocele in a patient presenting with nasal cellulitis.

    Science.gov (United States)

    Karandikar, Mahesh; Yellon, Robert F; Murdoch, Geoffrey; Greene, Stephanie

    2013-01-01

    Dermoid cysts, encephaloceles, and dermal sinus tracts represent abnormalities that develop during the process of embryogenesis. The elucidation of the precise timing of formation for these malformations has remained elusive at the molecular level of study. Yet, clinical experience has demonstrated that these malformations do not all occur in the same patient, suggesting a shared pathway that goes awry at distinct points for different patients, resulting in 1 of the 3 malformations. Herein the authors describe a case in which all 3 malformations were present in a single patient. This is the first description in the English literature of a sincipital encephalocele occurring with a dermoid cyst and a dermal sinus tract.

  20. Cerebral venous sinus thrombosis presenting as subdural haematoma

    International Nuclear Information System (INIS)

    Singh, S.; Kumar, S.; Joseph, M.; Gnanamuthu, C.; Alexander, M.

    2005-01-01

    The authors report a 39-year-old woman who presented with intermittent, excruciating nuchal and occipital headache. Magnetic resonance imaging and magnetic resonance angiography scans showed bilateral subdural haematomas with veno-occlusive disease of the superficial and deep venous systems. There were bridging collaterals with scalp veins, bleeds from which could explain the subdural haematoma. There was acute on chronic veno-occlusive disease with an acute rise in intracranial pressure and a bleed from the vein of Galen Copyright (2005) Blackwell Publishing Asia Pty Ltd

  1. Cavernous sinus apoplexy presenting isolated sixth cranial nerve palsy: case report.

    Science.gov (United States)

    Zoli, Matteo; Mazzatenta, Diego; Pasquini, Ernesto; Ambrosetto, Paolo; Frank, Giorgio

    2012-12-01

    The clinical and radiological findings of a patient affected by apoplexy of an adenoma located within cavernous sinus and presenting isolated Cranial Nerve (CN) VI palsy are reported. The differential diagnosis with other pathologies is debated, and pathogenesis of isolated abducens nerve palsy is investigated. The pertinent literature of this uncommon case of apoplexy is reviewed. A 59-year-old female presented sudden appearance of CN VI palsy associated to violent headache. Endocrinological assessment did not show pituitary insufficiency; MRI depicted an adenoma located within the left CS. She underwent an endoscopic endonasal procedure with extensive opening of the cavernous sinus, occupied by an ischemic adenoma. Afterward, neurological symptoms promptly resolved and the patient was discharged after 5 days. At 3 months follow-up MRI radical tumor removal was assessed, and the patient resulted neurologically intact. The review of the pertinent literature shows that apoplexy of pituitary tumor exclusively located within the Cavernous Sinus is a very uncommon event. The distinctive clinical presentation is represented by the sudden abducens nerve palsy and the absence of pituitary insufficiency and it could be explained by the vulnerability of the nerve along its course within the cavernous sinus, and by the sparing of the sellar content by the adenoma.

  2. [Caplan's syndrome: rarely presenting as syndrome].

    Science.gov (United States)

    Nowak, Albina; Göhner, Katja; Cohen, Clemens D

    2014-02-26

    A 59-year-old man complained about having dry cough for months and a recent sudden onset of minor hemoptoe, asymmetric arthritis, myalgia as well as lack of appetite. He presented an occupational history of 12-year exposure to an organic dust as uranium miner in German Democratic Republic followed by 21 years as heavy construction worker in Germany and in Switzerland. Laboratory work-up tested positive for microhematuria and anti-neutrophilic cytoplasmic antibodies (ANCA). Chest X-rays and CT scan showed bilaterally scattered nodules. Thoracoscopic wedge resection was performed, histopathological analysis revealed granuloma with central necrotic area containing black coal dust and silica depositions surrounded by histiocytes. The pulmonary opacities on X-ray and the typical histology in the light of significant dust exposure allow the diagnosis of a Caplan's syndrome. The symptoms improved rapidly under steroid therapy. Further investigations revealed a clear renal cell carcinoma as a cause for the persistent microhematuria. Rheumatoid arthritis, pulmonary nodules and history of prolonged dust exposure are classical findings that define Caplan's syndrome. These patients present with different immunological phenomena - in our case ANCA-positivity without vasculitis. Interestingly, the renal cell carcinoma which led to the "pulmorenal" syndrome in our patient is another health problem overrepresented in uranium mine workers.

  3. Carotid sinus syndrome is common in very elderly patients undergoing tilt table testing and carotid sinus massage because of syncope or unexplained falls.

    Science.gov (United States)

    Paling, David; Vilches-Moraga, Arturo; Akram, Qasim; Atkinson, Oliver; Staniland, John; Paredes-Galán, Emilio

    2011-08-01

    Although the incidence of falls and syncope increase with age, the underlying mechanisms are not fully understood, particularly in very old patients. We report diagnostic outcomes of tilt table and carotid sinus massage (TT/CSM) testing in a population of older old subjects (82% over 80 years of age) referred for TT/CSM from a falls clinic for assessment of syncope or unexplained falls. Prospective observational study between January 1, 2001 and January 1, 2005 involving 290 consecutive subjects undergoing TT/CSM testing according to European Society of Cardiology guidelines for the diagnosis and management of syncope. Combination of TT/CSM provided a positive result in 62% of subjects, and was significantly more likely to be positive in subjects over the age of 80 (68% vs 50%, p=0.001). Carotid sinus syndrome (CSS) was the most common diagnosis, and was significantly more common in subjects over 80 (48% vs 34%, p=0.022) particularly due to a higher incidence of mixed CSS (16% vs 7%, p=0.023). There was no significant difference in the diagnosis of subjects referred due to falls and those reporting syncope (p=0.93). No cardiovascular or neurological adverse events occurred. In our cohort of very elderly patients, the diagnostic accuracy of tilt testing and carotid sinus massage was high and adverse incidents absent when testing was indicated by a geriatrician experienced in the assessment of falls and syncope. We advocate the use of TT/CSM testing as part of a comprehensive falls/syncope assessment for the diagnostic evaluation of older patients presenting with unexplained falls and/or syncope in whom structured assessment has not identified a cause for their symptoms.

  4. Superior Sagittal Sinus Thrombosis Presenting with Hallucinations in the Puerperium: A Case Report

    Directory of Open Access Journals (Sweden)

    Zylfije Hundozi

    2016-12-01

    Full Text Available Cerebral venous sinus thrombosis is an uncommon cause of stroke presenting with varied presentation patterns. We report a case of a 21-year-old woman with superior sagittal sinus (SSS thrombosis (SSST developing after childbirth, presenting with visual hallucinations, severe headache, and tonic-clonic seizures. Time-of-flight magnetic resonance angiography (TOF-MRA demonstrated the presence of thrombus in SSS. She was treated with low molecular weight heparin (LMWH followed by warfarin. She had excellent recovery a few weeks after admission and was regularly followed up. Although this condition can be presented with different neurological symptoms, it does not typically present with hallucinations. We suggest that CSVT should be suspected even when a patient presents with an atypical picture in a category of patients at higher risk.

  5. Pacemaker implantation in a patient with brugada and sick sinus syndrome.

    Science.gov (United States)

    Risgaard, Bjarke; Bundgaard, Henning; Jabbari, Reza; Haunsø, Stig; Winkel, Bo Gregers; Tfelt-Hansen, Jacob

    2013-03-26

    Brugada syndrome (BrS) is a rare and inherited primary arrhythmic syndrome characterized by ST-segment elevations in the right precordial leads (V1-V3) with an increased risk of sudden cardiac death (SCD). Arrhythmias in BrS are often nocturne, and brady-arrhythmias are often seen in patients with loss-of-function mutations in SCN5A. In this case-report we present a 75-year old woman referred to our outpatient clinic for inherited cardiac diseases for a familial clinical work-up. Since childhood she had suffered from dizziness, absence seizures, and countless Syncope's. In 2004 sick sinus syndrome was suspected and she was treated with implantation of a pacemaker (PM) at another institution. An inherited cardiac disease was one day suddenly suspected, as the patient had a 61-year old brother who was diagnosed with symptomatic BrS, and treated with an implantable cardioverter defibrillator (ICD) after aborted SCD. A mutation screening revealed a SCN5A [S231CfsX251 (c.692-693delCA)] loss-of-function mutation not previously reported, and as a part of the cascade screening in relatives she was therefore referred to our clinic. In the 7 year period after PM implantation she had experienced no cardiac symptoms, although her electrocardiogram changes now were consistent with a BrS type 1 pattern. A genetic test confirmed that she had the same mutation in SCN5A as her brother. In this case-report we present a loss-of function mutation in SCN5A not previously associated with BrS nor presented in healthy controls. Sinus node dysfunction has previously been documented in patients with symptomatic BrS, which suggests it is not a rare concomitant. The only accepted treatment of BrS is today implantation of an ICD. In the future studies should evaluate if PM in some cases of symptomatic BrS can be used instead of ICDs in patients with a loss-of-function SCN5A mutations.

  6. Rare presentation of AICA syndrome.

    Science.gov (United States)

    Shabbir, Syed H; Nadeem, Faryal; Labovitz, Daniel

    2018-01-23

    We report a rare presentation of an anterior inferior cerebellar artery (AICA) infarct in a 74-year-old woman with acute-onset nausea, vomiting, vertigo and gait instability long before the full onset of symptoms and a negative MRI on admission. Over the next several days the patient developed left facial weakness, numbness, hypoacusis, and limb and gait ataxia, and was found to have acute infarcts of the left pons and cerebellar peduncle consistent with an AICA syndrome. We discuss this rare stepwise presentation in AICA syndrome and possible underlying pathophysiology. Such patients at risk for cerebrovascular disease should undergo a careful history, exam and follow-up, even with negative MRI findings, as their symptoms may precede a serious vascular event. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  7. Temporal Lobe Encephalocele in the Lateral Recess of the Sphenoid Sinus Presenting with Intraventricular Tension Pneumocephalus

    OpenAIRE

    Ohkawa, Toshika; Nakao, Naoyuki; Uematsu, Yuji; Itakura, Toru

    2010-01-01

    A basal encephalocele often shows an insidious clinical course. Only two cases of temporal lobe encephalocele accompanied with tension pneumocephalus have previously been reported. In this paper, we describe a case of lateral sphenoid sinus encephalocele presenting with intraventricular tension pneumocephalus. A 54-year-old man was referred to our institution presenting with intraventricular tension pneumocephalus. He had undergone ventriculoperitoneal shunt placement for postmeningitis hydro...

  8. Sick sinus syndrome, progressive cardiac conduction disease, atrial flutter and ventricular tachycardia caused by a novel SCN5A mutation

    DEFF Research Database (Denmark)

    Holst, Anders G; Liang, Bo; Jespersen, Thomas

    2010-01-01

    Mutations in the cardiac sodium channel encoded by the gene SCN5A can result in a wide array of phenotypes. We report a case of a young male with a novel SCN5A mutation (R121W) afflicted by sick sinus syndrome, progressive cardiac conduction disorder, atrial flutter and ventricular tachycardia. His...... father carried the same mutation, but had a milder phenotype, presenting with progressive cardiac conduction later in life. The mutation was found to result in a loss-of-function in the sodium current. In conclusion, the same SCN5A mutation can result in a wide array of clinical phenotypes and perhaps...

  9. An atypical presentation of sinus mucopyocele in a pediatric cystic fibrosis patient

    Directory of Open Access Journals (Sweden)

    Horesh E

    2015-05-01

    Full Text Available Elan Horesh, Andrew A Colin, Roy Casiano, Sara T WesterBascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USAAbstract: This case report details an association of chronic allergic conjunctivitis and respiratory tract colonization in a cystic fibrosis (CF patient due to an ethmoidal mucocele infected with Escherichia coli. A 3-year-old CF patient presented for evaluation with complaints of chronic periocular erythema, conjunctival injection, and irritation for 2 years. He was treated for presumed allergic conjunctivitis with no improvement and continued to have overall worsening of symptoms on the right greater than the left eye in a waxing and waning pattern. On presentation to the Bascom Palmer Eye Institute, he was noted to have telecanthus and prominent erythema in the region of the medial canthus. Orbital imaging disclosed a mucocele in the right ethmoid sinus. The patient underwent functional endoscopic sinus surgery, with successful marsupialization of the ethmoidal mucocele, which was found on culture to be infected with E. coli. Post-operatively with continuous pulmonary care, the patient remains free of allergic conjunctivitis and E. coli colonization of the upper airway. This case highlights the importance of analyzing the adjacent sinus in patients with chronic, relapsing allergic conjunctivitis refractory to medical management, particularly in patients with underlying systemic diseases such as CF.Keywords: allergic conjuncitivitis, Escherichia Coli, cystic fibrosis, mucocele

  10. The Unusual Presentation of a Myxoma Within the Sphenoid Sinus: Case Report and Review of the Literature.

    Science.gov (United States)

    Clarke, Julian V; Mandpe, Aditi H; Weber, Peter B; Vogel, Hannes; Leng, Lewis Z

    2017-07-01

    We describe a rare case of a sphenoid sinus myxoma that was resected via an endoscopic endonasal skull base approach. We review the literature regarding these rare tumors of the paranasal sinuses. A 72-year-old woman was diagnosed with an incidental sphenoid sinus tumor and left sphenoid wing meningioma during a workup for left-sided proptosis and diplopia. Biopsies of the sphenoid wing and sphenoid sinus tumors were obtained. After undergoing surgical resection of the meningioma, the patient then underwent definitive resection of the sphenoid sinus myxoma via endoscopic endonasal skull base approach. Postoperative imaging demonstrated a gross total resection. The patient suffered postoperative thromboembolic complications due to underlying hypercoagulable state but made a complete recovery and returned to her neurologic baseline. There has been no evidence of recurrent myxoma in the sphenoid sinus 24 months after surgery. Myxomas are benign tumors derived from primitive mesenchyme. Myxomas very rarely present in the paranasal or skull base location. Complete surgical resection is the primary treatment for these tumors. The endoscopic endonasal approach is an effective technique for resecting various benign and more aggressive extradural skull base tumors. Myxomas of the sphenoid sinus are rare. The endoscopic endonasal skull base approach is an effective and minimal access technique for resection of this rare tumor of the sphenoid sinus. Copyright © 2017 Elsevier Inc. All rights reserved.

  11. Osteoblastoma of the maxillary sinus in a child presenting with exophthalmos.

    Science.gov (United States)

    Vella, O; Cuny, F; Robard, L; Bazille, C

    2016-09-01

    Benign osteoblastoma is a rare fibrous bone tumour observed in children. Very few cases involving the paranasal sinuses have been reported. A 10-year-old child presented with a 1-month history of right exophthalmos. Clinical and radiological assessment demonstrated a heterogeneous tumour with bone components occupying all of the maxillary sinus. Initial histology was in favour of fibrous dysplasia. Surgery was performed via a combined approach. After review of the histology slides, the final diagnosis was that of osteoblastoma. In view of the procedure performed and after consultation, no complementary treatment was proposed. A recurrence was observed 8months later. Right maxillectomy associated with total ethmoidectomy via a combined approach was performed to ensure complete resection of the tumour. A favourable course without recurrence was observed with a follow-up of 5 years. Osteoblastoma of the maxillary sinus is rare. CT assessment must be as precise as possible to avoid confusion with another tumour. The diagnosis can only be confirmed by histological examination. This case report is completed by a review of the literature with description of the main differential diagnoses. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  12. Sinonasal Melioidosis in a Returned Traveller Presenting with Nasal Cellulitis and Sinusitis

    Directory of Open Access Journals (Sweden)

    Rebecca Sin Mei Lim

    2013-01-01

    Full Text Available We illustrate a case involving a 51-year-old man who presented to a tertiary hospital with sepsis secondary to an abscess of the nasal vestibule and pustular eruptions of the nasal mucosa. Associated cellulitis extended across the face to the eye, and mucosal thickening of the sinuses was seen on computed tomography. The patient underwent incision and drainage and endoscopic sinus surgery. Blood cultures and swabs were positive for a gram-negative bacillus, Burkholderia pseudomallei. He had multiple risk factors including travel to an endemic area. The patient received extended antibiotic therapy in keeping with published national guidelines. Melioidosis is caused by Burkholderia pseudomallei, found in the soil in Northern Australia and Asia. It is transmitted via cutaneous or inhaled routes, leading to pneumonia, skin or soft tissue abscesses, and genitourinary infections. Risk factors include diabetes, chronic lung disease, and alcohol abuse. It can exist as a latent, active, or reactivated infection. A high mortality rate has been identified in patients with sepsis. Melioidosis is endemic in tropical Northern Australia and northeastern Thailand where it is the most common cause of severe community-acquired sepsis. There is one other report of melioidosis in the literature involving orbital cellulitis and sinusitis.

  13. Waardenburg syndrome presenting with constipation since birth.

    Science.gov (United States)

    Gupta, R; Sharma, S B; Mathur, P; Agrawal, L D

    2014-12-01

    Shah-Waardenburg syndrome is Waardenburg syndrome associated with Hirschsprung's disease. A 10-day-old full-term male neonate of Waardenburg syndrome presented with constipation since birth along with features of small bowel obstruction. Exploratory laparotomy revealed distended proximal jejunal and ileal loops along with microcolon; an ileostomy was performed. Postoperatively patient developed sepsis and died. Histopathology confirmed total colonic aganglionosis. Suspect familial Shah-Waardenburg syndrome in a neonate of Waardenburg syndrome presenting with constipation since birth or intestinal obstruction.

  14. SEVERE AMIODARONE-INDUCED BRADICARDIA CONCEALES SICK SINUS SYNDROME: CASE REPORT.

    Science.gov (United States)

    Crăcană, Irina; Vasilcu, T F; Mardare, Alexandra; Alexa, Ioana Dana; Marcu, D T M

    2016-01-01

    Sinus node dysfunction is one of the most common arrhythmias in elderly patients; it is usually associated with intermittent and variable symptoms, thus making it difficult to diagnose. We present the case of an elderly female patient with a personal history of atrial fibrillation treated for the last three years with amiodarone; she was admitted to the Geriatric Clinic for non-specific symptoms with onset two months previously for which she had already sought care in different medical services. Clinical examination showed severe bradycardia; ECG and Holter ECG on admission confirmed severe bradycardia, with a heart rate between 29 and 50 beats/min (bpm). Given her long-term treatment with amiodarone we looked for and found hyperthyroidism; the endocrine examination led to the diagnosis of mixed type Amiodarone-induced thyrotoxicosis and initiation of corticosteroid and antithyroid treatment. The evolution of cardiac arrhythmia was monitored with the help of several Holter ECGs performed after amiodarone washout and return to the euthyroid state, which revealed a tachycardia-bradycardia syndrome initially masked by the side effects of the unsupervised therapy with amiodarone, and properly treated by the implantation of a pacemaker.

  15. Congenital piriform fossa sinus tract presenting as an asymptomatic neck mass in an infant

    Energy Technology Data Exchange (ETDEWEB)

    Bloom, David A. [Department of Pediatric Imaging, Children' s Hospital of Michigan, Wayne State University School of Medicine, 3901 Beaubien Boulevard, Detroit, MI 48201 (United States); Adler, Brent H. [Department of Radiology, Children' s Radiological Institute, Columbus Children' s Hospital, Columbus, Ohio (United States); Forsythe, Robert C. [Department of Pediatrics, Columbus Children' s Hospital, Ohio State University Medical Center, Columbus, Ohio (United States); Mutabagani, Khaled; Teich, Steven [Department of Surgery, Columbus Children' s Hospital, Ohio State University Medical Center, Columbus, Ohio (United States)

    2003-05-01

    A 5-month-old girl with an asymptomatic left-sided neck mass was demonstrated by ultrasound and upper gastrointestinal series (UGI), and confirmed at surgery, to have a congenital piriform fossa sinus tract (CPFST) that communicated with an intrathyroidal cyst. To demonstrate a case of CPFST presenting as an asymptomatic neck mass. Nearly all cases of CPFST present with infection or pain, making this case unique. Case report and review of the literature. CPFST with an associated cyst should be added to the differential diagnosis of asymptomatic cystic neck masses in infants, especially if the cyst is intrathyroidal by ultrasound. (orig.)

  16. Congenital piriform fossa sinus tract presenting as an asymptomatic neck mass in an infant

    International Nuclear Information System (INIS)

    Bloom, David A.; Adler, Brent H.; Forsythe, Robert C.; Mutabagani, Khaled; Teich, Steven

    2003-01-01

    A 5-month-old girl with an asymptomatic left-sided neck mass was demonstrated by ultrasound and upper gastrointestinal series (UGI), and confirmed at surgery, to have a congenital piriform fossa sinus tract (CPFST) that communicated with an intrathyroidal cyst. To demonstrate a case of CPFST presenting as an asymptomatic neck mass. Nearly all cases of CPFST present with infection or pain, making this case unique. Case report and review of the literature. CPFST with an associated cyst should be added to the differential diagnosis of asymptomatic cystic neck masses in infants, especially if the cyst is intrathyroidal by ultrasound. (orig.)

  17. Carotid sinus syndrome and cardiovagal regulation in elderly patients with suspected syncope-related falls

    DEFF Research Database (Denmark)

    Brinth, Louise Schouborg; Latif, Tabassam; Pors, Kirsten

    2014-01-01

    Background: Falls and syncope in the elderly may be caused by hypersensitivity in the high-pressure baroreflex control - carotid sinus syndrome (CSS). The pathophysiological process causing CSS remains poorly understood. Methods: We studied the hemodynamic response to carotid sinus massage (CSM......) and compared this to other measurements of autonomic cardiovascular control in patients suspected of syncope-related falls. One hundred patients (≥80 years-old) referred to our syncope unit due to recurrent falls or possible syncope participated. CSM was performed in the supine and head-up tilted (HUT....... Conclusions: The hemodynamic response to CSM has a well-defined pattern and differs both with respect to the stimulus site and patient position. We suggest that CSS is not a distinct pathophysiological process or disease entity but rather an acquired cardiovascular instability due to age-related degeneration...

  18. Cutaneous squamous cell carcinoma presenting as a wound with discharging sinus tracts in a wild African lion (Panthera leo).

    Science.gov (United States)

    Mwase, M; Mumba, C; Square, D; Kawarai, S; Madarame, H

    2013-11-01

    A female wild African lion (Panthera leo) was presented with an 8-month history of a wound with multiple discharging sinus tracts on the left paw. Microscopical examination revealed squamous cell carcinoma (SCC). To the best of our knowledge, this is the first report of cutaneous SCC in an African lion. Cutaneous SCC presenting as discharging sinus tracts lined by neoplastic squamous cells has not been reported previously in animals. Copyright © 2013 Elsevier Ltd. All rights reserved.

  19. Sinus of Valsalva Aneurysm Rupture: An Unusual Presentation of Chromosome 22q11.2 Deletion: A Case Report

    Directory of Open Access Journals (Sweden)

    Eda-Cristina Abuchaibe

    2012-01-01

    Full Text Available Sinus of Valsalva aneurysm (SVA is defined as a weakness in the aortic valve wall, immediately above the attachments of each of the aortic cusps. This weakness can rupture and create an aortocardiac fistula. There are many congenital heart defects associated with chromosome 22q11 deletion, especially involving the aortic arch and its branches. SVA is not an anomaly usually associated with chromosome 22 deletion. We report the case of a 19-year-old female who presented to our institution with SVA rupture. She was subsequently diagnosed with chromosome 22q11 deletion syndrome. Despite dysmorphic facial features and a learning disability, our patient had not been diagnosed with the chromosome abnormality. SVA is a rare congenital heart defect and has only once previously been reported in a child with a chromosome 22q11 deletion. We report the first case where aneurysm rupture preceded the chromosomal findings. Chromosome 22q11 deletion could be missed due to either the unfamiliarity of physicians with the syndrome or the variability and subtlety of the phenotype. This was demonstrated by our patient who, at age 19 after presenting with an SVA rupture, prompted physicians to find an explanation for her coexisting dysmorphic features and her learning disability.

  20. Unusual Neuroimaging Presentation of Cerebral Venus Sinus Thrombosis in 40 Patients

    OpenAIRE

    Gh. Bakhshandepour; H. Abdolhusseinpour; S. Shahbaygi; J. Jalal Shokouki

    2008-01-01

    Background/Objective: This study has been per-formed to investigate the unusual imaging presenta-tion of the cerebral venous sinus thrombosis."nPatients and Methods: The data was analyzed retro-spectively from all patients with evidences of dural vein thrombosis in MRI, referred to two medical im-aging centers in Tehran during four years period (2002 to 2006)."nResults: Thirty-three women and seven men (22 to 70 years old) with imaging findings of Dural vein thrombosis were relative...

  1. 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

  2. Moyamoya disease and sagittal sinus thrombosis in a child with Down's syndrome

    International Nuclear Information System (INIS)

    Del-Rio Camacho, G.; Leal Orozco, A.; Camino Lopez, M.; Ruiz-Moreno, M.; Perez-Higueras, A.; Al-Assir, I.

    2001-01-01

    A girl with Down's syndrome, moyamoya disease and sagittal sinus thrombosis is described. She was diagnosed after acute neurological deterioration by MRI and angiography. Recombinant tissue plasminogen activator (r-TPA) was injected locally to recanalise the thrombus. The patient's condition significantly improved and she was discharged. After 2 years of follow-up the child remains asymptomatic. Moyamoya syndrome and cerebral venous thrombosis should not be overlooked as a cause of acute neurological deterioration in a child with Down's syndrome. MRA appears to be a safe and accurate alternative to traditional angiography for the diagnosis of moyamoya disease. Local fibrinolysis with r-TPA is the treatment of choice for cerebral venous thrombosis due to its safety and efficacy. (orig.)

  3. Neurocysticercosis presenting as Millard Gubler syndrome

    Directory of Open Access Journals (Sweden)

    Rajniti Prasad

    2012-01-01

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

  4. Posterior reversible encephalopathy syndrome presenting as Balint syndrome.

    Science.gov (United States)

    Kumar, Sunil; Abhayambika, Archana; Sundaram, Arun N E; Sharpe, James A

    2011-09-01

    Balint syndrome is a disorder of inaccurate visually guided saccades, optic ataxia, and simultanagnosia that typically results from bilateral parieto-occipital lesions. Visual perception disturbances in the posterior reversible encephalopathy syndrome (PRES) include hemianopia, visual neglect, and cerebral blindness, but Balint syndrome had not been recognized. We report Balint syndrome associated with PRES in a 37-year-old woman with acute hypertension and systemic lupus erythematosus. Balint syndrome can be an initial presentation of PRES.

  5. Severe headache as a presenting complaint in sigmoid sinus thrombosis complicated by functional overlay.

    Science.gov (United States)

    Chaudhary, Pradhyuman; Banwari, Girish; Parikh, Nimesh; Gandhi, Hitendra

    2015-01-01

    An otherwise serious and potentially fatal organic condition may present with a co-existing strong functional component. We encountered a female patient who presented with bouts of severe headache over the occipital region, associated with blurring of vision. Initially, non-contrast computed tomography (CT) scan (Brain) showed normal study, and she was deemed as having functional symptoms. Later, magnetic resonance imaging (MRI) (Brain) showed filling defect in right sigmoid sinus and magnetic resonance (MR) venography confirmed right sigmoid sinus thrombosis. On adequate anticoagulation, she did not improve and still had bouts of severe headache, although no longer associated with impaired vision. The treating neurophysician concluded that symptoms could no longer be accounted for by the organic condition. Overt and covert psychosocial stressors were found to be present in a detailed psychological exploration. Psychological intervention effectively controlled the headache. Thus, functional overlay can complicate the clinical picture in a severe organic condition and may require active psychiatric intervention over and above medical treatment.

  6. Severe headache as a presenting complaint in sigmoid sinus thrombosis complicated by functional overlay

    Directory of Open Access Journals (Sweden)

    Pradhyuman Chaudhary

    2015-01-01

    Full Text Available An otherwise serious and potentially fatal organic condition may present with a co-existing strong functional component. We encountered a female patient who presented with bouts of severe headache over the occipital region, associated with blurring of vision. Initially, non-contrast computed tomography (CT scan (Brain showed normal study, and she was deemed as having functional symptoms. Later, magnetic resonance imaging (MRI (Brain showed filling defect in right sigmoid sinus and magnetic resonance (MR venography confirmed right sigmoid sinus thrombosis. On adequate anticoagulation, she did not improve and still had bouts of severe headache, although no longer associated with impaired vision. The treating neurophysician concluded that symptoms could no longer be accounted for by the organic condition. Overt and covert psychosocial stressors were found to be present in a detailed psychological exploration. Psychological intervention effectively controlled the headache. Thus, functional overlay can complicate the clinical picture in a severe organic condition and may require active psychiatric intervention over and above medical treatment.

  7. McCune-Albright syndrome with fibrous dysplasia of the paranasal sinuses.

    Science.gov (United States)

    Uzun, C; Adali, M K; Koten, M; Karasalihoglu, A R

    1999-09-01

    We report a 19-year old female patient with the McCune-Albright syndrome, which is a rare disease consisting of polyostotic fibrous dysplasia (FD) of bone associated with brown pigmented areas of the skin and several endocrine dysfunctions. The patient had FD involving the paranasal sinuses, the middle turbinate and the skull. The endocrine dysfunction of the patient concerns both growth hormone and prolactin hypersecretion. Because the patient had no major symptoms, neither surgical nor medical treatment was applied. Five-year follow-up revealed no complication and enlargement of the lesion.

  8. Inferior petrosal sinus sampling in the diagnosis of adrenocorticotropin dependent Cushing syndrome with unknown origin

    International Nuclear Information System (INIS)

    Shen Xuefeng; Yuan Dequan; Yue Ming; Feng Juanjuan

    2011-01-01

    Objective: To evaluate the value of inferior petrosal sinus sampling (IPSS) in the diagnosis of adrenocorticotropic hormone (ACTH) dependent Cushing syndrome (CS) with unknown origin. Methods: IPSS was carried out for the diagnosis of 16 cases with ACTH dependent CS who had not been identified after a series of dexamethasone suppression tests and radiological examinations. The ratio of inferior petrosal sinus/peripheral ACTH was assayed. The sensitivity and specificity of diagnosis of the Cushing disease were estimated. Results: The inferior petrosal sinus/peripheral ACTH ratio was over 2.0 in 13 cases. Twelve cases underwent surgery with pathological diagnosis of pituitary ACTH adenoma, 1 patient relieved after γ knife treatment. The ratio was < 2.0 in 3 cases including 2 pulmonary carcinoid and one pituitary ACTH adenoma. The sensitivity and specify of IPSS for the diagnosis of Cushing disease were 13/14 and 2/2 respectively. Conclusion: IPSS was a safe technique with high sensitivity, specify and infrequent complications in the diagnosis of ACTH dependent Cushing disease. It had great clinical value in the differential diagnosis of ACTH dependent Cushing disease with unknown origin. (authors)

  9. Atrial fibrillation in patients with sick sinus syndrome: the association with PQ-interval and percentage of ventricular pacing

    DEFF Research Database (Denmark)

    Nielsen, Jens Cosedis; Thomsen, Poul Erik B; Højberg, Søren

    2012-01-01

    AimsIn the recently published DANPACE trial, incidence of atrial fibrillation (AF) was significantly higher with single-lead atrial (AAIR) pacing than with dual-chamber (DDDR) pacing. The present analysis aimed to evaluate the importance of baseline PQ-interval and percentage of ventricular pacing...... (VP) on AF.Methods and resultsWe analysed data on AF during follow-up in 1415 patients included in the DANPACE trial. In a subgroup of 650 patients with DDDR pacemaker, we studied whether %VP, baseline PQ-interval, and programmed atrio-ventricular interval (AVI) was associated with AF burden measured...... between minimal-paced programmed AVI = 100 and >100 ms (median value), respectively (P= 0.60).ConclusionsThe present study indicates that a longer baseline PQ-interval is associated with an increased risk of AF in patients with sick sinus syndrome. Atrial fibrillation burden is not associated...

  10. Sheehan's syndrome presenting as psychosis: a rare clinical presentation

    Science.gov (United States)

    Dar, Mohamand Maqbool; Arif, Tasleem; Bashir, Haamid; Bhat, Mohammad Hayat; Ahmed, Javid

    2013-01-01

    Sheehan's syndrome (SS) refers to the occurrence of varying degree of hypopituitarism after parturition (1). It is a rare cause of hypopituitarism in developed countries owing to advances in obstetric care and its frequency is decreasing worldwide. However, it is still frequent in underdeveloped and developing countries. Sheehan's syndrome is often diagnosed late as it evolves slowly (2,3). Reports of psychoses in patients with Sheehan's syndrome are rare. Herein, a case report of psychosis in a 31 year old woman who developed Sheehan's syndrome preceded by postpartum haemorrhage is presented. Treatment with thyroxine and glucocorticoids resulted in complete remission after attaining euthyroid and eucortisolemic state. PMID:23483784

  11. Adult Sinusitis

    Science.gov (United States)

    ... Cystic Fibrosis Sinusitis Q&A Complications of Sinusitis Epistaxis (Nosebleeds) Allergic Rhinitis (Hay Fever) Headaches and Sinus ... Cystic Fibrosis Sinusitis Q&A Complications of Sinusitis Epistaxis (Nosebleeds) Allergic Rhinitis (Hay Fever) Headaches and Sinus ...

  12. Presentation and management of lateral sinus thrombosis following posterior fossa surgery.

    Science.gov (United States)

    Apra, Caroline; Kotbi, Owais; Turc, Guillaume; Corns, Robert; Pagès, Mélanie; Souillard-Scémama, Raphaëlle; Dezamis, Edouard; Parraga, Eduardo; Meder, Jean-François; Sauvageon, Xavier; Devaux, Bertrand; Oppenheim, Catherine; Pallud, Johan

    2017-01-01

    OBJECTIVE There are no guidelines for the management of postoperative lateral sinus thrombosis following posterior fossa surgery. Introducing treatment-dose anticoagulant therapy during the immediate postoperative period increases the risk of intracranial bleeding. This study assessed the incidence of and risk factors associated with postoperative lateral sinus thrombosis and the complications related to thrombosis and/or anticoagulation. METHODS This study was a retrospective monocentric analysis of adult patients who underwent surgical removal of a posterior fossa space-occupying lesion with available postoperative imaging. Postoperative lateral sinus thrombosis was defined as a T2 * hypointensity within the venous sinus and/or a filling defect on postcontrast MRI or CT scan. RESULTS Among 180 patients, 12 (6.7%; 95% CI 3.0-10.4) were found to have lateral sinus thrombosis on postoperative imaging, none of whom were symptomatic. Unadjusted risk factors for postoperative lateral sinus thrombosis were a history of deep venous thrombosis (p = 0.016), oral contraceptive pill (p = 0.004), midline surgical approach (p = 0.035), and surgical exposure of the sinus (p < 0.001). Seven of the patients (58.3%) with a postoperative lateral sinus thrombosis received immediate treatment-dose anticoagulant therapy. Lateral sinus recanalization occurred radiologically at a mean time of 272 ± 23 days in 85.7% of patients (6 of 7) undergoing treatment-dose anticoagulant therapy and in 20% of patients (1 of 5) not receiving treatment-dose anticoagulant therapy. Postoperative complications occurred in 56.2% of patients (9 of 16) who received treatment-dose curative anticoagulant therapy and in 27% of patients (45 of 164) who did not. CONCLUSIONS Incidental radiological lateral sinus thrombosis following posterior fossa surgery has an incidence of 6.7%. To further define the benefit-to-risk ratio of a treatment-dose anticoagulant therapy, a prospective trial should be considered.

  13. Poland syndrome: rare presentation in two cases.

    Science.gov (United States)

    Gocmen, Hayrettin; Akkas, Yucel; Doganay, Selim

    2010-08-27

    Poland syndrome was first described in 1840 by Alfred Poland while still a medical student and the other components of the syndrome were described at London Guy's Hospital following the dissection of a cadaver's hand, which had hypoplasia and syndactyly. The incidence of Poland syndrome has been reported to be 1 in 30,000 live births. In the present case report, two Poland syndrome patients with ipsilateral hypomastia and a reduction in the axillary/pectoral hairs diagnosed during adulthood are presented; one patient was affected on the left side and had widespread cafe au lait spots, and the other patient had respiratory dysfunction due to multiple rib anomalies.

  14. A rare presentation of orbital complication of invasive fungal sinusitis in an immunocompetent young boy-a rare case

    Directory of Open Access Journals (Sweden)

    S Gaur

    2012-09-01

    Full Text Available We present a case of allergic fungal sinusitis (AFS in a 24 -year old man with history of left sided nasal obstruction and discharge since few years. Since few months he developed epiphora in the left eye associated with discomfort on eye movements. Patient was examined and CT with contrast was done. CT contrast showed an enhancing lesion in Left maxillary and ethmoid sinuses and erosion of the inferior bony wall of the orbit and medial wall of maxillary sinus. Though most patients of fungal sinusitis are immunocompromised but this patient was young male immunocompetent and made an unusual presentation with visual epiphora and painful eye movements. CT showed bony erosion of the Left inferior Bony wall of the Orbit and medial wall of Maxillary Sinus. After through examination and specific investigations, the patient was posted for surgery. We planed for Cald well –Luc’s Surgery and Endoscopic excision of the mass .Histological examination was reported as non malignant and microscopy showed Fungal Hyphae. After the surgery patient was discharged satisfactorily within couple of days and followed up regularly. Journal of College of Medical Sciences-Nepal,2012,Vol-8,No-1, 48-51 DOI: http://dx.doi.org/10.3126/jcmsn.v8i1.6826

  15. A comparison of single-lead atrial pacing with dual-chamber pacing in sick sinus syndrome

    DEFF Research Database (Denmark)

    Nielsen, Jens Cosedis; Thomsen, Poul Erik B; Højberg, Søren

    2011-01-01

    In patients with sick sinus syndrome, bradycardia can be treated with a single-lead pacemaker or a dual-chamber pacemaker. Previous trials have revealed that pacing modes preserving atrio-ventricular synchrony are superior to single-lead ventricular pacing, but it remains unclear if there is any...

  16. Cerebral venous sinus thrombosis: A diagnostic challenge in a rare presentation

    Directory of Open Access Journals (Sweden)

    Sultan AbdulWadoud Alshoabi

    2017-01-01

    Full Text Available Cerebral venous sinus thrombosis (CVST is an uncommon, life-threatening condition with a variable clinical presentation that makes it a challenge of diagnosis. A 39-year-old male patient presented to the hospital with complete loss of conscious and admitted to Medical Intensive Care Unit for investigation without any obvious history that was difficult for diagnosis. In this case, the patient presented with coma that is a rare presentation of CVST with no obvious clinical history and he was male patient that means he is free of all gender-specific risk factors of CVST. The brain computed tomography (CT scan showed hypodense lesion in the left upper parietal region with no hemorrhage. The lesion was low-signal intensity (SI on T1WIs and high SI on T2WIs and restricted on diffusion-weighted images like arterial infarctions, but magnetic resonance angiography (MRA was normal that excluded arterial infarction. Gadolinium-enhanced MR venography (MRV showed the filling defect of CVST. CVST can be present by a mysterious clinical presentation that makes it as a challenge of diagnosis even by medical imaging by CT and MR imaging (MRI. A combination of MRI and MRV is the best, noninvasive, and nonionizing imaging modality for the diagnosis of CVST.

  17. [Atypical presentation of Klinefelter syndrome].

    Science.gov (United States)

    Sanz Marcos, N; Turón Viñas, A; Ibáñez Toda, L

    2013-08-01

    Klinefelter syndrome (KS) is the most common sex chromosomal abnormality and is associated with hypergonadotropic hypogonadism as an endocrine disorder. The phenotype is characterized by tall stature, abdominal adiposity and small testicles, and often appears after puberty.We report two cases of SK. The first patient is a 2-year-old boy with short stature who received growth hormone therapy. Because of non-progressive puberty, an evaluation of the reproductive axis was performed, showing increased basal gonadotropins. The karyotype (48 XXYY) confirmed the presence of KS. The second patient is an 8 year-old boy in whom peripheral precocious puberty was suspected. Laboratory tests showed high chorionic gonadotropin levels, and a chest CT scan revealed a mediastinal mass. The karyotype in peripheral blood disclosed a 48 XXYY formula (KS).Short stature does not exclude SK. In patients with a mediastinal mass and neurobehavioral deficits, KS should be suspected. Copyright © 2012 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  18. Brain Fag Syndrome Among Nigerian Undergraduates: Present ...

    African Journals Online (AJOL)

    Brain Fag Syndrome Among Nigerian Undergraduates: Present Status And Association With Personality And Psychosocial Factors. ... The Brain Fag Syndrome Scale (BFSS), Eysenck Personality Questionnaire (EPQ), 30-item version of the General Health Questionnaire (GHQ-30) and a questionnaire on sociodemographic ...

  19. Endoscopic endonasal repair of spontaneous sphenoid sinus lateral wall meningocele presenting with cerebrospinal fluid leak

    Directory of Open Access Journals (Sweden)

    Ali Erdem Yildirim

    2014-01-01

    Full Text Available Spontaneous sphenoid sinus lateral wall meningoceles are rare lesions with an unknown etiology. Endoscopic endonasal technique is a considerable route in the treatment of this condition. The aim of this paper is to report the etiology, surgical technique, and outcome in a patient repaired via endoscopic endonasal approach. A 51-year-old male patient applied with rhinorrhea started three months ago after an upper respiratory infection. There were no history of trauma or sinus operation. Biochemical analysis of the fluid was positive for beta-2-transferrin. This asypthomatic patient had undergone for repairment of lateral sphenoid sinus meningocele with endoscopic endonasal transsphenoidal approach. After endoscopic endonasal meningocele closure procedure no complications occured and a quick recovery was observed. Endoscopic endonasal approach is an effective and safe treatment modality of spontaneous lateral sphenoid sinus meningoceles and efficient in anterior skull base reconstruction.

  20. Unusual Presentation Of Dapsone Syndrome

    Directory of Open Access Journals (Sweden)

    Singh Prabhas Chandra

    2001-01-01

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

  1. Phlegmonous gastritis and group A streptococcal toxic shock syndrome in a patient following functional endoscopic sinus surgery.

    Science.gov (United States)

    Paik, David C; Larson, James D; Johnson, Steven A; Sahm, Katherine; Shweiki, Ehyal; Fulda, Gerard J

    2010-12-01

    Phlegmonous gastritis is a rare and often fatal condition that can affect healthy individuals in 50% of cases. The condition has been described in accounts dating back to the pre-antibiotic era, during which time mortality was nearly 100%. Over the past century, case reports average about one per year. The etiology remains unclear, although Streptococcus species is isolated frequently. The optimum treatment has not been delineated clearly but likely involves a combination of antibiotics with or without surgical resection. A case report was presented and the pertinent literature was reviewed. A 45-year-old man with a history of recent paranasal sinus surgery presented with acute abdominal pain and criteria consistent with toxic shock syndrome. Computed tomography scan showed diffuse thickening of the gastric wall and free intraperitoneal fluid. Exploratory laparotomy revealed a thickened stomach wall with outer fibrinous exudate and murky peritoneal fluid, which grew Streptococcus pyogenes. Intraoperative esophagogastroduodenoscopy revealed thickened gastric folds with a "cobblestone" appearance and no evidence of perforation. He was treated with antibiotics intravenously and sustained a difficult intensive care unit course complicated by ventilator-dependent respiratory failure, renal failure, and coagulopathy, but survived without major disability. This is an unusual case presentation of a rare but potentially lethal condition, whose optimal treatment is unclear. Phlegmonous gastritis should be considered when isolated gastric wall thickening is encountered in the clinical setting of toxic shock syndrome.

  2. Cavernous sinus thrombophlebitis (sans thrombosis) secondary to odontogenic fascial space infection: an uncommon complication with unusual presentation.

    Science.gov (United States)

    Prabhu, Sundararaman; Jain, Sachin Kumar; Dal Singh, Vankudoth

    2015-03-01

    We discuss an unusual presentation of non-thrombotic cavernous sinus involvement in a patient who was treated for odontogenic fascial space infection arising from a maxillary molar. The highlights were ipsilateral abducens sparing, contralateral abducens involvement and lack of significant orbital congestion. The patient recovered with conservative treatment.

  3. Dural sinus thrombosis presenting as unilateral lobar haematomas with mass effect: an easily misdiagnosed cause of cerebral haemorrhage

    International Nuclear Information System (INIS)

    Singh, T.; Chakera, T.

    2002-01-01

    Dural sinus thrombosis has protean clinical and radiological manifestations ranging from minimal effacement of sulci with no symptoms to severe haemorrhagic infarcts associated with focal deficits, coma and even death. An uncommon form of presentation is characterized by unilateral lobar haemorrhage associated with extensive oedema and parenchyma! distortion. In an acute presentation, this might resemble haemorrhage into a tumour. In delayed presentations, the haematoma, being iso- or hypodense and showing peripheral ring-like enhancement, can mimic aggressive tumours or infective processes. As this is an uncommon condition, misdiagnosis is common with the potential for mismanagement and adverse outcomes. We present five such consecutive cases that were initially misdiagnosed as other entities. Each of these cases on closer inspection show features observed on CT and MRI that should have suggested a diagnosis of dural venous sinus thrombosis. One of these cases progressed to not only extensively involve the superficial sinuses but also the deep veins, with a significant adverse outcome. The imaging features of this interesting variant of dural sinus thrombosis are reviewed. The haemodynamic basis for haemorrhage and anatonaical basis for the lateralization of the lesions are discussed. Copyright (2002) Blackwell Science Pty Ltd

  4. Neuroblastoma presenting with the nephrotic syndrome.

    Science.gov (United States)

    Zheng, H L; Maruyama, T; Matsuda, S; Satomura, K

    1979-08-01

    A case of neuroblastoma in a 4-yr-old boy presenting with the nephrotic syndrome is reported. Nether thrombosis nor stenosis of the renal veins and the inferior vena cava was present. Electron microscopy revealed lumps of subepithelial deposits as well as thickening and tortuosity of the glomerular basement membrane compatible with membranous nephropathy. It is postulated that deposition of neuroblastoma-associated immune complexes on the glomerular basement membrane-was responsible for the development of the nephrotic syndrome in this patient. Five pediatric cases of nephrotic syndrome associated with extrarenal neoplasia were collected from the world literature and are briefly discussed.

  5. Typical and atypical presentations of paranasal sinus mucocele at computed tomography; Apresentacoes tipicas de mucocele dos seios paranasais na tomografia computadorizada

    Energy Technology Data Exchange (ETDEWEB)

    Carvalho, Bruna Vilaca de; Lopes, Izabella de Campos Carvalho; Correa, James de Brito, E-mail: brunavilaca@gmail.com [Hospital Mater Dei, Belo Horizonte, MG (Brazil). Dept. de Radiologia e Diagnostico por Imagem; Ramos, Laura Filgueiras Mourao; Motta, Emilia Guerra Pinto Coelho; Diniz, Renata Lopes Furletti Caldeira [Hospital Mater Dei, Belo Horizonte, MG (Brazil)

    2013-11-15

    Mucoceles are cystic masses that generally affect the sinuses. It occurs as a result from obstruction of the ostium of a sinus and consequential accumulation of mucus. Frontal and ethmoid sinuses are mostly affected. Usually, the clinical symptoms are insidious, varying with the extent of the affected region. The treatment is surgical and endoscopic surgery is the method of choice in most cases. The present study is aimed at describing the main characteristics of paranasal sinuses mucoceles, demonstrating and illustrating a series of atypical presentations with emphasis on imaging findings. (author)

  6. Primary antiphospholipid syndrome presenting with homonymous quadrantanopsia.

    Science.gov (United States)

    Yang, Hee Kyung; Moon, Ki Won; Ji, Min Jung; Han, Sang Beom; Hwang, Jeong-Min

    2018-06-01

    To report a case of primary antiphospholipid syndrome presenting with isolated homonymous superior quadrantanopsia. A 50-year-old Korean man presented with subjective visual disturbance for 1 month. Visual field testing showed a right homonymous superior quadrantanopsia. Brain magnetic resonance imaging (MRI) revealed an old infarct in his left occipital lobe and multiple lesions in other areas of the brain. Laboratory tests showed a marked increase in serum anti-β2 glycoprotein I antibody, which remained elevated after 12 weeks. He was diagnosed with primary antiphospholipid syndrome and started anticoagulation therapy. This is the first case report of primary antiphospholipid syndrome presenting with isolated homonymous quadrantanopsia. Antiphospholipid syndrome should be considered as a differential diagnosis in patients with homonymous visual field defects accompanying multiple cerebral infarcts.

  7. Endovascular management of a carotid aneurysm into the sphenoid sinus presenting with epistaxis.

    Science.gov (United States)

    Akkari, Mohamed; Gascou, Grégory; Trévillot, Vincent; Bonafé, Alain; Crampette, Louis; Machi, Paolo

    2015-12-01

    Non-traumatic cavernous internal carotid artery (ICA) aneurysms are rare, and favour the occurrence of massive recurrent epistaxis, which is associated with a high mortality rate. We report the case of a 67-year-old woman presenting a ruptured ICA aneurysm extending into the sphenoid sinus, revealed by epistaxis. Selective coil embolization of the aneurysm was performed. Flow-diverter stents were deployed in order to utterly exclude the aneurysm and prevent revascularization. Anti-platelet treatment was provided to lower the risk of in-stent thrombosis. A left frontal hematoma associated with a subarachnoid haemorrhage occurred at day 2. Outcome was favourable with no neurological sequelae, and no clinical recurrence of epistaxis occurred. A 4 months follow-up digital subtraction angiography showed a complete exclusion of the aneurysm. In addition, a magnetic resonance cerebral angiography at 16 months showed stable results. Thus, this two-stage endovascular procedure has proven its effectiveness in preventing epistaxis recurrence while preserving the ICA patency. © The Author(s) 2015.

  8. Results of carotid sinus massage in a tertiary referral unit--is carotid sinus syndrome still relevant?

    Science.gov (United States)

    Tan, Maw Pin; Newton, Julia L; Reeve, Pam; Murray, Alan; Chadwick, Tom J; Parry, Steve W

    2009-11-01

    carotid sinus hypersensitivity (CSH) is associated with syncope, drop attacks and unexplained falls in older people. However, a recent study has also reported a prevalence of 35% in asymptomatic community-dwelling older people. we conducted a retrospective observational study to investigate the haemodynamic and symptom responses of a large cohort of patients undergoing carotid sinus massage (CSM). the electronically stored haemodynamic data of 302 consecutive patients, aged 71 +/- 11 years, investigated with CSM for unexplained falls and syncope was analysed. Bilateral sequential CSM was performed in the supine and upright positions with continuous electrocardiogram (ECG) and non-invasive beat-to-beat blood pressure monitoring (Taskforce, CN Systems, Austria). CSH (CSH) was defined by maximal R-R interval > or =3 s (cardioinhibitory) and/or a systolic blood pressure drop of > or =50 mmHg (vasodepressor). a total of 74/302 (25%) subjects had CSH, 37 (50%) of which were cardioinhibitory (CI) and 37 (50%) were vasodepressor (VD) subtypes. Subjects with positive CSM were significantly older (75.2 vs 70.2 years, P older individuals. This discrepancy may be explained by selection bias and demographic differences, but raises the possibility of CSH being an age-related epiphenomenon rather than a causal mechanism for syncope, drop attacks and unexplained falls. Our observations have important implications for clinical practice and the development of future research strategies.

  9. Sigmoid sinus thrombosis presenting with posterior alexia in a patient with Behçet's disease and polycythaemia: a case report

    Directory of Open Access Journals (Sweden)

    Thomas P

    2008-05-01

    Full Text Available Abstract Introduction A 59-year-old Caucasian woman presented with an acute onset of alexia, noticed whilst driving. She described how while she could read car number plates, she had lost the ability to read and understand words on roadside advertisements and car window stickers. Case presentation Neurological examination was unremarkable apart from the inability to read full words or sentences. Imaging of the brain, initially computed tomography, followed by magnetic resonance venography, confirmed a diagnosis of sigmoid sinus thrombosis with associated venous infarction. The patient's past medical history revealed that she had suffered an ischemic stroke and following investigation for this, had undergone a nephrectomy for renal cell carcinoma. This was complicated by postoperative deep venous thrombosis. She had a persistent polycythaemia that was managed with venesection, and recently she had been diagnosed with Behçet's disease. Prior to this presentation, she had recently stopped her prophylactic antiplatelet medication as she was due to undergo a total knee replacement for osteoarthritis. She was managed with weight-adjusted, low molecular weight heparin followed by oral anticoagulation, and made a good recovery from her symptoms. Conclusion This case illustrates a classical neurological syndrome, highlights the importance of cerebral venous and sinus thrombosis as a cause of stroke, and the importance of remaining vigilant to a person's changing risk of venous thrombosis with evolving comorbidity.

  10. Otolaryngological presentations of Cornelia de Lange syndrome.

    Science.gov (United States)

    Hamilton, Jane; Clement, W Andrew; Kubba, Haytham

    2014-09-01

    Children with Cornelia de Lange syndrome frequently present to otolaryngology services with hearing problems. Airway problems have not previously been reported. We wish to describe our experience of the overall management in a series of children with Cornelia de Lange syndrome. Retrospective case note review of children diagnosed with Cornelia de Lange syndrome presenting to our department between 2005 and 2014. Six patients were seen. Airway problems consisted of laryngeal overspill with severe gastroesophageal dysmotility and reflux despite structurally normal airway (1 case), laryngomalacia requiring supraglottoplasty (2 cases), reflux laryngitis with secondary laryngomalacia and coincidental tracheal diverticulum (1 case) choanal atresia requiring stents (1 case) and obstructive sleep apnoea (1 case). Supraglottoplasty produced a dramatic improvement in feeding and breathing in both children who underwent the procedure. Two children had palatal anomalies and one underwent cochlear implantation for a profound sensorineural hearing loss. Children with Cornelia de Lange syndrome have multifaceted ENT problems. Airway pathology has not previously been described in Cornelia de Lange syndrome but has been common in our experience. We wish to highlight that laryngomalacia in Cornelia de Lange syndrome responds well to supraglottoplasty. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  11. Self-controllable prodromal symptoms of syncope attributed to carotid sinus syndrome during the end stage of cancer: a case report

    OpenAIRE

    Hasuo, Hideaki; Kanbara, Kenji; Sakuma, Hiroko; Matsumori, Rie; Fukunaga, Mikihiko

    2016-01-01

    Background Carotid sinus syndrome (CSS) can cause prodromal symptoms of syncope such as dizziness and nausea. Patients with end-stage cancer lose self-efficacy associated with reduced activities of daily life (ADL). Herein, we report a case of end-stage cancer in which self-efficacy was enhanced as the patient gained self-control of prodromal symptoms of syncope. Case presentation A 70-year-old patient with end-stage esophageal cancer and enlarged supraclavicular lymph nodes developed CSS. Th...

  12. Penatalaksanaan Anestesi pada Pasien dengan Sick Sinus Syndrome yang Menjalani Laparotomi Ec Perforasi Gaster

    Directory of Open Access Journals (Sweden)

    Radian Ahmad Halimi

    2013-04-01

    Full Text Available SA node dysfunction, or known as Sick Sinus Syndrome is the common cause of disrythmia and can be caused by intrinsic and extrinsic factors of the SA node. The diagnose performed by the occurrence of bradi- takhikardia episode and the clinical symptoms, could be syncope, palpitation, or maybe asymptomatic. Some of the literature defined that the perioperative management of sick sinus syndrome is preoperative insertion of pacemaker (transcutaneal or transvenous pacing. A 75 years old man underwent laparotomy with diffuse peritonitis caused by gastric perforation. In preoperative clinical evaluation the patients revealed full awake ( compos mentis, with history of uncontrolled hypertension. In physical exammination a severe bradicardia was found with pulse of 31x/minute, and the blood pressure was 190/100 mmHg. In this rural hospital there was no fascility to insert the pace-maker. The organ perfusion was considered to be optimal from clinical evaluation ( proved by the wakefullness, SpO2 99%, and diuresis 1cc/kgBW after optimalization . The chest X’ray showed a cardiomegali without the sign of pulmonary congestion. The laboratory test were within normal limit including the renal function test ( creatinin; 0,97 mg/dl, and ureum 82,6 mg/dl. We decided to perform general anesthesia in this procedure. Before the induction while patient still awake, fentanyl 2µg/kgBW was given intravenously. Fifteen menue after fentanyl administration induction of anesthesia performed and initiated with propofol intravenous injection slowly until patients felt asleep, than intubated after muscle relaxant intravenous reached the onset After intubation the pulse / heart rate of patients rose to 44 – 90x/minute. While the pulse was 90/ minute the heart rythm of the patients became irregular, a multifocal ventricular extra systole occured, and it was reversible when the heart rate back to 44x/ minute. We decided to maintain the heart rate between 35 – 40dmitted to

  13. Sigmoid sinus thrombosis presenting with posterior alexia in a patient with Behçet's disease and polycythaemia: a case report.

    Science.gov (United States)

    Thomas, P; Keightley, A; Kamble, R; Gunasekera, N; Johnson, M R

    2008-05-23

    A 59-year-old Caucasian woman presented with an acute onset of alexia, noticed whilst driving. She described how while she could read car number plates, she had lost the ability to read and understand words on roadside advertisements and car window stickers. Neurological examination was unremarkable apart from the inability to read full words or sentences. Imaging of the brain, initially computed tomography, followed by magnetic resonance venography, confirmed a diagnosis of sigmoid sinus thrombosis with associated venous infarction. The patient's past medical history revealed that she had suffered an ischemic stroke and following investigation for this, had undergone a nephrectomy for renal cell carcinoma. This was complicated by postoperative deep venous thrombosis. She had a persistent polycythaemia that was managed with venesection, and recently she had been diagnosed with Behçet's disease. Prior to this presentation, she had recently stopped her prophylactic antiplatelet medication as she was due to undergo a total knee replacement for osteoarthritis. She was managed with weight-adjusted, low molecular weight heparin followed by oral anticoagulation, and made a good recovery from her symptoms. This case illustrates a classical neurological syndrome, highlights the importance of cerebral venous and sinus thrombosis as a cause of stroke, and the importance of remaining vigilant to a person's changing risk of venous thrombosis with evolving comorbidity.

  14. Neurological Manifestations of Dural Sinus Thrombosis | Ali | Sudan ...

    African Journals Online (AJOL)

    Background:Dural sinus thrombosis is a clinical syndrome that has a diversity of signs and symptoms that can be easily misinterpreted with other common neurological diseases such as brain infections. Objective: to study the clinical presentation of dural sinus thrombosis among Sudanese patients seen at Elshaab ...

  15. Adult Presentation of Dyke-Davidoff-Masson Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Ujjawal Roy

    2016-01-01

    Full Text Available Dyke-Davidoff-Masson syndrome (DDMS is a rare disease which is clinically characterized by hemiparesis, seizures, facial asymmetry, and mental retardation. The classical radiological findings are cerebral hemiatrophy, calvarial thickening, and hyperpneumatization of the frontal sinuses. This disease is a rare entity, and it mainly presents in childhood. Adult presentation of DDMS is unusual and has been rarely reported in the medical literature. Key Messages: DDMS is a rare disease of childhood. However, it should be kept in mind as a diagnostic possibility in an adult who presents with a long duration of progressive hemiparesis with seizures and mental retardation. Cerebral hemiatrophy, calvarial thickening, and hyperpneumatization of the frontal sinuses are diagnostic for this illness on brain imaging.

  16. Primary Antiphospholipid Syndrome: Unusual Presentation in a ...

    African Journals Online (AJOL)

    A 72 year old man with a history of TIAs and stroke with unexplained moderately raised ESR presented a year later with rapid deterioration of vision in his left eye because of central retinal vein occlusion. Primary antiphospholipid syndrome is found in patients with history of arterial or venous thromboembolism, ...

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

    African Journals Online (AJOL)

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

  18. Heterotopic Intracranial Skin Presenting as Chronic Draining Sinus After Remote Craniotomy.

    Science.gov (United States)

    Al-Qattan, Husain; Gernsback, Joanna E; Nugent, Ajani G; Lyapichev, Kirill A; Komotar, Ricardo J; Chim, Harvey

    2017-02-01

    Craniotomies for trauma are associated with a significant risk of wound complications. We report a case in which a chronic nonhealing draining sinus was caused by an ectopic epidermal lining deep to the craniotomy bone flap, adherent to the underlying dura. A 61-year-old man was examined for a 3-year-old, nonhealing scalp wound resulting after a traumatic brain injury. His initial surgery consisted of an intracranial hematoma evacuation through a temporoparietal craniotomy; this was complicated by wound dehiscence and a chronic sinus draining clear fluid that did not resolve with antimicrobial therapy. Intraoperatively, a layer of hair-bearing skin adherent to the dura was found deep to the entirety of the previous bone flap. There was no dura tear or overt cerebrospinal fluid leak. This necessitated removal of the skin over the dura as well as the overlying bone flap. The resultant defect was reconstructed with a titanium mesh and hydroxyapatite cranioplasty, with a scalp rotation flap for coverage of the cutaneous defect. Pathology confirmed skin with intact adnexal structures. This case demonstrates that it is possible for hair-bearing skin to grow directly on dura, deep to an intact craniotomy bone flap. With a chronic draining sinus in the absence of computed tomography and magnetic resonance imaging findings, this should be part of the differential diagnosis. Copyright © 2016 Elsevier Inc. All rights reserved.

  19. Fibrous dysplasia of the sphenoid sinus and skull base presents in an adult with localized temporal headache.

    Science.gov (United States)

    Selmani, Ziane; Aitasalo, Kalle; Ashammakhi, Nureddin

    2004-03-01

    Fibrous dysplasia (FD) of the sphenoidal sinus is a rare disease, especially during adulthood. We report a case of FD of the right sphenoidal sinus in an adult male patient who presented with nonspecific symptoms limited to headache localized to the right temporal area and to the inferior orbital rim of both sides. Magnetic resonance imaging revealed a dense mass that occupied the entire right sphenoidal sinus and skull base with typical ground-glass opacification and bony sclerosis of the whole sphenoidal wall. The diagnosis of FD was confirmed on pathological examination of a biopsy taken through sphenotomy. The patient underwent a subcranial craniotomy for tumor resection. After more than 4 years of follow-up, the patient was disease-free. On the basis of these clinical features, it is important to consider sphenoidal FD in both young and adult patients complaining of an unexplained headache, because it may present unusually with headache localized to the temporal region or the inferior orbital rim.

  20. Sinus Headaches

    Science.gov (United States)

    ... Evaluation and management of "sinus headache" in the otolaryngology practice. Otolaryngology Clinics of North America. 2014;47:269. Sinusitis. ... et al. Why the confusion about sinus headache? Otolaryngology Clinics of North America. 2014;47:169. Sinus ...

  1. GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

    Science.gov (United States)

    Lodder, Elisabeth M; De Nittis, Pasquelena; Koopman, Charlotte D; Wiszniewski, Wojciech; Moura de Souza, Carolina Fischinger; Lahrouchi, Najim; Guex, Nicolas; Napolioni, Valerio; Tessadori, Federico; Beekman, Leander; Nannenberg, Eline A; Boualla, Lamiae; Blom, Nico A; de Graaff, Wim; Kamermans, Maarten; Cocciadiferro, Dario; Malerba, Natascia; Mandriani, Barbara; Akdemir, Zeynep Hande Coban; Fish, Richard J; Eldomery, Mohammad K; Ratbi, Ilham; Wilde, Arthur A M; de Boer, Teun; Simonds, William F; Neerman-Arbez, Marguerite; Sutton, V Reid; Kok, Fernando; Lupski, James R; Reymond, Alexandre; Bezzina, Connie R; Bakkers, Jeroen; Merla, Giuseppe

    2016-09-01

    GNB5 encodes the G protein β subunit 5 and is involved in inhibitory G protein signaling. Here, we report mutations in GNB5 that are associated with heart-rate disturbance, eye disease, intellectual disability, gastric problems, hypotonia, and seizures in nine individuals from six families. We observed an association between the nature of the variants and clinical severity; individuals with loss-of-function alleles had more severe symptoms, including substantial developmental delay, speech defects, severe hypotonia, pathological gastro-esophageal reflux, retinal disease, and sinus-node dysfunction, whereas related heterozygotes harboring missense variants presented with a clinically milder phenotype. Zebrafish gnb5 knockouts recapitulated the phenotypic spectrum of affected individuals, including cardiac, neurological, and ophthalmological abnormalities, supporting a direct role of GNB5 in the control of heart rate, hypotonia, and vision. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  2. Is Prolactin Measurement of Value during Inferior Petrosal Sinus Sampling in Patients with ACTH-dependent Cushing’s Syndrome?

    Science.gov (United States)

    Sharma, S. T.; Nieman, L. K.

    2014-01-01

    Inferior petrosal sinus sampling (IPSS) is considered the gold standard test to distinguish between Cushing’s disease (CD) and ectopic ACTH syndrome (EAS). Anomalous venous drainage, abnormal venous anatomy and lack of expertise can lead to false-negative IPSS results and thereby misclassification of patients with ACTH-dependent Cushing’s syndrome. Prolactin measurement during IPSS can improve diagnostic accuracy and decrease false negative results. A baseline prolactin inferior petrosal sinus to peripheral (IPS/P) ratio (ipsilateral to the dominant post-CRH ACTH IPS/P ratio) of 1.8 or more suggests successful catheterization during IPSS. Prolactin-normalized ACTH IPS/P ratios can then be used to differentiate between a pituitary and ectopic source of ACTH. Values ≤ 0.7 are suggestive of EAS and those ≥ 1.3 are indicative of CD but the implication of values between 0.7 and 1.3 remains unclear and needs further investigation. Larger prospective studies are also needed for further evaluation of the role of contralateral prolactin IPS/P ratios, post-CRH prolactin values and prolactin-adjusted ACTH inter-sinus ratios for tumor localization in CD. PMID:23887034

  3. A variant epidemic methicillin resistant Staphylococcus aureus-15 cavernous sinus thrombosis and meningitis: A rare occurrence with unusual presentation

    Directory of Open Access Journals (Sweden)

    Veena Kumari H

    2010-01-01

    Full Text Available Septic cavernous sinus thrombosis (CST is an uncommon clinical syndrome. Although Staphylococcus aureus (S aureus is the most common bacterial pathogen causing CST, it is infrequent as a cause of meningitis. We report the first case of CST and meningitis from Bengaluru, Karnataka, caused by community-acquired epidemic methicillin resistant Staphylococcus aureus-15 (EMRSA-15, in a previously healthy individual without known risk factors; the patient recovered following treatment with vancomycin. The isolate was genotyped as belonging to staphylococcal cassette chromosome mec type IV and sequence type 22 and carried the panton-valentine leucocidin gene. It is the first Indian EMRSA-15 disease isolate from a case of meningitis. EMRSA-15 has been a major problem in hospitals in UK and it is a cause for great concern in Indian hospitals too.

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

    Directory of Open Access Journals (Sweden)

    K K Singh

    2015-01-01

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

  5. NEPHROTIC SYNDROME: PAST, PRESENT AND FUTURE

    Directory of Open Access Journals (Sweden)

    M. S. Ignatova

    2017-01-01

    Full Text Available This literature review is focused to change our ideas about the etiology, pathogenesis and treatment tactics of the nephrotic syndrome  in recent decades. The change in the treatment outcomes of the primary nephrotic syndrome in connection with the emergence of new  therapy technologies, is shown. Features of the course, examination and therapy of congenital and infantile nephrotic syndrome and  the possibility of the debut of a nephrotic syndrome associated with various gene mutations and at an older age are presented. Principal differences in diagnostic and therapeutic approaches are accentuated depending on the cause of the development of the disease.  Modern syndromological and pathogenetic methods of therapy of primary nephrotic syndrome are presented, and the immediate opportunities for the introduction of new treatment technologies based on the use of monoclonal antibodies, are shown.

  6. Metastasis of hepatocellular carcinoma presented as a tumor of the maxillary sinus and retrobulbar tumor

    Directory of Open Access Journals (Sweden)

    Kolarević Daniela

    2011-01-01

    Full Text Available Introduction. Hepatocellular carcinoma (HCC is the most frequent primary malignant tumor of the liver. It is usually seen in the 6th and 7th decades of life and chronic hepatitis B is the most frequent cause. Extrahepatic metastasis of HCC is an indicator of a poor prognosis and the most common sites are lungs, bones, lymph nodes, kidneys and adrenal glands. We reported a case of isolated metastasis in the right maxilla, which had been found initially, before the tumor in the liver was diagnosed. Case report. A 70-year-old man underwent dental surgery of the upper right molar. Prolonged bleeding control was difficult for up to two weeks, so the biopsy was performed. Histopathological analysis revealed a metastatic hepatocellular carcinoma. Computerized tomography (CT of the abdomen revealed a diffusely heterogeneous liver parenchyma with irregular borders and two foci of mass lesions. There were metastasis in the spleen and also two pathological retroperitoneal lymph nodes were detected, but no ascit, liver cirrhosis, cholestasis or portal vein thrombosis were seen. CT of the orbital and maxillary regions revealed a tumor mass in the right maxillary sinus, spreading to the alveolar sinus, nasal cavity and partially infratemporal space. A tumor mass was in the right orbit as well, infiltrating the surrounding bones and muscles. Clinically, there was proptosis of the right eye accompanied by amaurosis. The treatment started with chemotherapy based on 5-fluorouracil (sorafenib was not available. After three cycles, control CTs showed a stable disease in the liver, but progression in the right maxillary sinus and orbit. Enucleation of the right eye was performed and postoperative radiotherapy was planed. The patient deteriorated rapidly and died, about 6 months after the disease had been diagnosed. Conclusion. Extrahepatic metastasis of HCC represents a progressive phase of the disease with poor prognosis, so the main aim of the treatment should be

  7. Sinonasal carcinoma presenting as chronic sinusitis and sequential bilateral visual loss

    Directory of Open Access Journals (Sweden)

    Wei-Yu Chiang

    2015-01-01

    Full Text Available Sinonasal undifferentiated carcinoma-related rhinogenic optic neuropathy is rare and may lead to visual loss. To the best of our knowledge, this is the first report of bilateral sequential visual loss induced by this etiology. It is important to differentiate between chronic sinusitis and malignancy on the basis of specific findings on magnetic resonance images. Surgical decompression with multidisciplinary therapy, including steroids, chemotherapy, and radiotherapy, is indicated. However, no visual improvement was noted in this case, emphasizing the rapid disease progression and importance of early diagnosis and treatment.

  8. A Toddler Presenting with Pulmonary Renal Syndrome

    Directory of Open Access Journals (Sweden)

    Florence A. Aeschlimann

    2017-06-01

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

  9. Antiphospholipid antibody syndrome presenting as transverse myelitis

    Directory of Open Access Journals (Sweden)

    Javvid M Dandroo

    2015-01-01

    Full Text Available The antiphospholipid syndrome (APS is characterized by arterial and/or venous thrombosis and pregnancy morbidity in the presence of anticardiolipin antibodies and/or lupus anticoagulant. APS can occur either as a primary disorder or secondary to a connective tissue disease, most frequently systemic lupus erythematosus. Central nervous system involvement is one of the most prominent clinical manifestations of APS, and includes arterial and venous thrombotic events, psychiatric features, and a variety of other nonthrombotic neurological syndromes. Although the mechanism of neurological involvement in patients with APS is thought to be thrombotic in origin and endothelial dysfunction associated with antiphospholipid antibodies. APS presenting as acute transverse myelitis is very rarely seen with a prevalence rate of 1%. We are describing a foreigner female presenting as acute transverse myelitis which on evaluation proved to be APS induced. So far, very few cases have been reported in literature with APS as etiology.

  10. Carotid sinus hypersensitivity is common in patients presenting with hip fracture and unexplained falls.

    Science.gov (United States)

    Sachpekidis, Vasileios; Vogiatzis, Ioannis; Dadous, George; Kanonidis, Ioannis; Papadopoulos, Constantinos; Sakadamis, George

    2009-09-01

    We tried to determine the prevalence of carotid sinus hypersensitivity (CSH) in patients with hip fractures with and without a clear history of an accidental fall. We studied 51 patients hospitalized for a hip fracture and 51 matched controls from our outpatients department. All patients were subjected to a carotid sinus massage in the supine and upright position. Patients were categorized in accidental (Group A) and unexplained (Group B) fallers. Six of 33 (18.2%) patients in Group A and 12 of 18 (66.7%) patients in Group B (P older (A: 75.5 +/- 8.5 years vs B: 80.1 +/- 5.9 years, P =0.029) and were more likely to have a history of unexplained falls or syncope in the past (A: 0% vs B: 66.7%, P fall and report a history of syncope or unexplained falls in the past. The vasodepressor/mixed forms account for the majority of CSH responses in the group of unexplained fallers.

  11. Laterally situated sinus pericranii

    International Nuclear Information System (INIS)

    Koshu, K.; Takahashi, S.

    1981-01-01

    Sinus pericranii has been reported to be situated usually along the midline. Two cases of laterally situated sinus pericranii are presented. Venous blood was obtained by puncturing the tumors directly. Injection of contrast medium into the tumors demonstrated a communication between the tumors and the intracranial venous sinuses through marked diploic veins. (orig.)

  12. Miller Fisher syndrome presenting as palate paralysis.

    Science.gov (United States)

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

    2016-09-15

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

  13. CURRENT APPROACH TO SINUSITIS

    African Journals Online (AJOL)

    Enrique

    Viral infection. Allergy. Barotrauma. Deviated nasal septum. Nasal polyps. Tumour. Nasal packing. Nasogastric tube. Foreign bodies. Table II. Factors predisposing to sinusitis. Allergy. Smoking. Asthma and aspirin sensitivity. Diabetes mellitus. Immotile cilia, i.e. Kartagener's syndrome. Cystic fibrosis. Immunodeficiency.

  14. Gigantic unruptured sinus of Valsalva aneurysm presenting as an incidental murmur.

    LENUS (Irish Health Repository)

    Yagoub, Hatim

    2012-01-01

    We report a case of a 56-year-old man referred by his family physician with an asymptomatic cardiac murmur. Trans-thoracic echocardiography (TTE) suggested an unruptured right sinus of Valsalva aneurysm (SVA) causing extrinsic compression of the right ventricular outflow tract. This was confirmed with an ECG-gated cardiac CT showing a large right SVA measuring 35×37×42 mm in size. Coronary angiography demonstrated non-obstructive coronary artery disease. Ascending thoracic anterior in the right anterior oblique view delineated the right SVA. The patient underwent aortic valve sparing surgical repair of the aneurysm with an excellent result. Echocardiography confirmed obliteration of the aneurysm and normal aortic valve function postoperatively.

  15. Late presentation of congenital urachal sinus in a middle aged male complicated by an umbilical abscess: A case report

    Directory of Open Access Journals (Sweden)

    Kewal Arunkumar Mistry

    2015-09-01

    Full Text Available Urachus or the median umbilical ligament is a fibrous strand connecting umbilicus to bladder, representing embryologic remnant of cloaca and allantois. Urachal anomalies are infrequent in adult population. Moreover they have a different course in adults than pediatric age group in which they are more common, frequently involute and have a benign course. These remnants are prone to infection and development of malignancy. A proper diagnostic workup by clinical and imaging tools is required. We present a case report of a urachal sinus complicated with abscess in an adult with brief review of the literature.

  16. Heart failure in patients with sick sinus syndrome treated with single lead atrial or dual-chamber pacing

    DEFF Research Database (Denmark)

    Riahi, Sam; Nielsen, Jens Cosedis; Hjortshøj, Søren

    2012-01-01

    AIMS: Previous studies indicate that ventricular pacing may precipitate heart failure (HF). We investigated occurrence of HF during long-term follow-up among patients with sick sinus syndrome (SSS) randomized to AAIR or DDDR pacing. Furthermore, we investigated effects of percentage of ventricular...... during follow-up. Patients were classified with new HF, if in New York Heart Association (NYHA) functional class IV or if presence of ≥2 of: oedema; dyspnoea; NYHA functional class III. Mean follow-up was 5.4 ± 2.4 years. Heart failure hospitalizations did not differ between groups. In the AAIR group...

  17. Antiphospholipid Antibody Syndrome Presenting with Hemichorea

    Directory of Open Access Journals (Sweden)

    Yezenash Ayalew

    2012-01-01

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

  18. Celulitis orbitaria como forma de presentación de la sinusitis complicada en el niño Orbital cellulitis as a way of presentation of the complicated sinusitis in the child

    Directory of Open Access Journals (Sweden)

    Odette Pantoja Pereda

    2012-03-01

    Full Text Available La sinusitis aguda es un proceso inflamatorio de la mucosa de los senos paranasales, de etiología bacteriana principalmente. Es más frecuente en las edades escolares y en las épocas de mayor circulación de los virus respiratorios. Se desarrolla cuando se afecta el drenaje normal de los senos y se retienen las secreciones mucosas. Las complicaciones más severas, como celulitis y abscesos periorbitarios, son raras. La celulitis orbitaria es una entidad poco frecuente, cuya importancia radica en que puede asociarse a la pérdida de la visión y otras complicaciones. Se presenta el caso de un paciente de 6 años, afectado con celulitis orbitaria, secundaria a sinusitis, y se comentan las peculiaridades del diagnóstico y el tratamiento, con el objetivo de alertar al pediatra para su diagnóstico temprano, lo que optimizaría su tratamiento.The acute sinusitis is a inflammatory process of the mucosa of paranasal sinuses, the more important bacterial etiology. It is more frequent in the school ages and in the periods of more circulation of the respiratory viruses, which develops when the normal drainage of the sinuses is involved and there is retention of the mucosa secretions. The more severe complications including cellulitis and periorbital abscesses are rare. The orbital cellulitis is an entity not much frequent, whose significance lie in it may be associated to loss of vision and other complications. Authors present the case of a patient aged 6 presenting with orbital cellulitis, secondary to sinusitis and the particular feature of diagnosis and treatment to alert pediatrician for its early diagnosis, optimizing its treatment.

  19. THREE-DIMENSIONAL ASSESSMENT OF THE PHARYNGEAL AIRWAY AND MAXILLARY SINUS VOLUMES IN INDIVIDUALS WITH NON-SYNDROMIC CLEFT LIP AND PALATE

    Directory of Open Access Journals (Sweden)

    Ana NEMȚOI

    2015-09-01

    Full Text Available Introduction: Children with cleft lip and palate (CLP are known to have airway problems. Introduction of ConeBeam CT (CBCT and imaging software has facilitated generation of 3D images for assessing the volume of maxillary sinuses and pharyngeal airway. Consequently, the present study aimed at evaluating and comparing the maxillary sinus and pharyngeal airway volume of patients with cleft lip and palate in healthy patients, using cone beam computed tomography (CBCT images. Materials and method: The sample group included 27 individuals (15 with cleft lip and palate subjects and 12 healthy subjects. The pharyngeal airway and each maxillary sinus were three-dimensionally assessed, segmented and their volume was calculated. A comparison between the right and left sinus was performed by Student t-test, and the differences between the control and cleft groups were calculated using ANOVA. Results: No statistically significant differences were found when the maxillary sinuses volumes from each side were compared (p >0.05. The unilateral CLP patients presented the lowest sinus volume. Individuals with CLP did not exhibit a total airway volume smaller than the nonCLP controls. Conclusions: 3D imaging using CBCT and Romexis software is reliable for assessing maxillary sinus and pharyngeal airway volume. The present study showed that the pharyngeal airway is not compromised in CLP individuals. The unilateral CLP individuals present maxillary sinuses with smaller volumes, no differences being recorded between the cleft and non-cleft side.

  20. Sinus Surgery

    Science.gov (United States)

    ... use of an endoscope is linked to the theory that the best way to obtain normal healthy sinuses is to open the natural pathways to the sinuses. Once an improved drainage system is achieved, the diseased sinus mucosa has an ...

  1. Partial Androgen Insensitivity Syndrome Presenting with Gynecomastia

    Directory of Open Access Journals (Sweden)

    Sung Won Lee

    2015-06-01

    Full Text Available Gynecomastia is a benign enlargement of the male breast caused by the proliferation of glandular breast tissue. Determining the various causes of gynecomastia such as physiological causes, drugs, systemic diseases, and endocrine disorders is important. Androgen insensitivity syndrome (AIS is a rare endocrine disorder presenting with gynecomastia and is a disorder of male sexual differentiation caused by mutations within the androgen receptor gene. All individuals with AIS have the 46 XY karyotype, although AIS phenotypes can be classified as mild, partial or complete and can differ among both males and females including ambiguous genitalia or infertility in males. We experienced a case of partial AIS presenting with gynecomastia and identified the androgen receptor gene mutation.

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

    LENUS (Irish Health Repository)

    Murphy, Grainne

    2009-08-01

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

  3. Giant Aneurysmal Bone Cyst of the Anterior Cranial Fossa and Paranasal Sinuses Presenting in Pregnancy: Case Report and Literature Review.

    Science.gov (United States)

    Hnenny, Luke; Roundy, Neil; Zherebitskiy, Victor; Grafe, Marjorie; Mansoor, Atiya; Dogan, Aclan

    2015-11-01

    Background and Purpose Aneurysmal bone cysts (ABCs) rarely involve the cranium and have seldom been reported in pregnancy. Clinical Presentation We describe a case of a 28-year-old woman who presented at 37 weeks of gestation with 3 months of gradually worsening vision, 10 months of proptosis, and restricted ocular motility on the left. Brain imaging revealed a multicystic enhancing mass measuring 5.9 × 5.3 × 3.7 cm, centered on the cribriform plate on the left, extending into the anterior cranial fossa superiorly as well as the left nasal cavity, maxillary, sphenoid, and frontal sinuses. Her clinical course is described in detail; 3-month postoperative imaging demonstrated no residual mass. Conclusion A literature review revealed five previous cases of ABCs associated with pregnancy. We report a rare case of a giant ABC of fibrous dysplasia involving the paranasal sinuses and anterior cranial fossa. We postulate on the possible influence of pregnancy on the clinical course.

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

    African Journals Online (AJOL)

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

  5. Altered mental status as a presentation of juvenile polyposis syndrome

    Directory of Open Access Journals (Sweden)

    Natasha Hansraj

    2015-12-01

    Full Text Available Juvenile polyposis coli (JPC is a rare hereditary disorder in which patients have multiple polyps in the gastrointestinal tract and present most commonly with hematochezia. We describe a 4-year-old with intermittent rectal prolapse presenting with altered mental status and headaches. JPC was diagnosed by the presence of multiple, pedunculated, colonic polyps on colonoscopy; his altered mental status resulted from cerebral venous sinus thrombosis. Although JPC is known to be associated with a protein losing enteropathy (PLE, this usually manifests as merely hypoalbuminemia and protein losses without major clinical sequelae. We present a rare complication of cerebral venous sinus thrombosis which highlights altered mental status as a rare presentation of JPC. To our knowledge, this is the first case report in the literature linking JPC, decreased protein S activity, a single mutation in the methylenetetrahydrofolate reductase gene and cerebral thrombosis.

  6. CHADS2 and CHA2DS2-VASc score to assess risk of stroke and death in patients paced for sick sinus syndrome

    DEFF Research Database (Denmark)

    Svendsen, Jesper Hastrup; Nielsen, Jens Cosedis; Darkner, Stine

    2013-01-01

    The risk of stroke in patients with atrial fibrillation (AF) can be assessed by use of the CHADS2 and the CHA2DS2-VASc score system. We hypothesised that these risk scores and their individual components could also be applied to patients paced for sick sinus syndrome (SSS) to evaluate risk of str...

  7. The Rapunzel Syndrome: An Unusual Trichobezoar Presentation

    Directory of Open Access Journals (Sweden)

    Luiz Roberto Lopes

    2010-01-01

    Full Text Available The Rapunzel syndrome is an unusual form of trichobezoar found in patients with a history of psychiatric disorders, trichotillomania (habit of hair pulling and trichophagia (morbid habit of chewing the hair, consequently developing gastric bezoars. The principal symptoms are vomiting and epigastric pain. In this case report, we describe this syndrome in a young girl.

  8. Bilateral SUNCT syndrome associated to chronic maxillary sinus disease Síndrome SUNCT de ocorrência bilateral associada a sinusopatia maxilar crônica

    Directory of Open Access Journals (Sweden)

    Denis Bernardi Bichuetti

    2006-06-01

    Full Text Available SUNCT syndrome (short lasting unilateral neuralgiform headache with conjuntival injection and tearing is defined as short attacks of periorbital unilateral pain and accompanied by ipsilateral lacrimation and redness of the same eye. We present an unusual SUNCT case with bilateral pain that started five years ago after an acute maxillary sinus infection that evolved to chronic sinusitis. This association has been described in few SUNCT cases, but its causal role remains uncertain. The patient was a 58 years old man that fulfilled a headache diary that showed the usual circadian pattern, worsening in the morning and afternoon, and responded to treatment with gabapentina. He was submitted to a functional endoscopic sinus surgery and evolved with milder pain. In a review of 21 patients, 5 had a past medical history of sinusitis, but the causal role of this association remained uncertain.A síndrome SUNCT (short lasting unilateral neuralgiform headache with conjuntival injection and tearing é definida como curtos ataques de dor periorbital unilateral, acompanhada de lacrimejamento e hiperemia conjuntival ipsilateral. Apresentamos um raro caso de SUNCT com dor bilateral com evolução de cinco anos e iniciado após uma infecção de seio maxilar que evoluiu para sinusite crônica. Esta associação foi descrita em poucos casos de SUNCT, porém pouco esclarecida. O paciente era um homem de 58 anos que preencheu um diário de dor que demonstrou o típico padrão circadiano da síndrome, com pioras matinais e vespertinas, e apresentou melhora com uso de gabapentina. Submetido a cirurgia endoscópica funcional em seio maxilar e evoluiu com modulação da dor, sugerindo um potencial efeito benéfico após tratamento da sinusopatia.Na revisão de literatura encontramos 21 casos de SUNCT bilateral, cinco dos quais apresentavam história de sinusite; no entanto, a relação entre as duas entidades permanece ainda incerta.

  9. De morseir syndrome presenting as ambiguous genitalia

    Directory of Open Access Journals (Sweden)

    Anubhav Thukral

    2012-01-01

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

  10. Interatrial rupture of a non-coronary sinus of Valsalva aneurysm: a rare presentation of a rare disorder.

    Science.gov (United States)

    Mwambingu, Thomas L; Matthews, Iain G; Thambyrajah, Jeet; Andrew Owens, W

    2011-12-01

    A 65-year-old male was referred to our team after the incidental finding of a large non-coronary sinus of Valsalva aneurysm on computed tomography (CT)-scan of the thorax. Further imaging with transesophageal echocardiography (TOE) excluded intracardiac shunting. Unusually, the aneurysm had ruptured into the interatrial septum and was seen to be compressing both atria. At operative intervention, a 20 mm defect which had replaced the non-coronary sinus was repaired using a patch graft. An aneurysm of an aortic sinus is a rare disorder, and a rupture of a non-coronary sinus typically results in the formation of a fistulous tract in the right atrium. These images highlight an unusual case of a non-coronary sinus of Valsalva aneurysm which ruptured into the interatrial septum (IAS), and demonstrate the benefit of multi-modality cardiac imaging in guiding surgical repair.

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

    Directory of Open Access Journals (Sweden)

    Jason B. Fischer

    2015-06-01

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

  12. 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.

  13. [Trichorhinophalangeal syndrome--clinical presentation and genetics].

    Science.gov (United States)

    Brodwall, Kristoffer M; Júlíusson, Pétur B; Bjerknes, Robert; Hovland, Randi; Fiskerstrand, Torunn

    2011-08-09

    The trichorhinophalangeal syndrome (TRPS) is a hereditary, skeletal dysplasia which has a characteristic clinical presentation and is classified in types 1, 2 and 3, based on phenotype and genotype. Typical findings may be mild and many patients probably remain undiagnosed. The paper is based on four case reports and provides a short review of the condition. Our four patients all have typical facial features, such as a large nose and thin upper lip, thin hair and short curved fingers with characteristic radiological findings. The condition is autosomal dominant and caused by a mutation in the TRPS1 gene, which codes a gene-regulating protein involved in development of hair and modulation of chondrocytes. The diagnosis can be based on clinical findings, but DNA-analysis can be of help in unclear situations. Two of our patients were diagnosed from clinical and radiological findings, but for the two others genetic examinations were done as well. There is no causal treatment, but the diagnosis can give patients an explanation of their problems, and genetic counseling for the patient and family can be offered. Orthopedic surgery and cosmetic aids are valuable for many. In an increasingly technified medical daily life, the clinical view is still the most important tool in diagnosing patients with this condition.

  14. Lithium Intoxication Presenting as a Mixed Misidentification Syndrome

    Directory of Open Access Journals (Sweden)

    S. G. Potts

    1992-01-01

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

  15. Turner′s syndrome presenting as metabolic bone disease

    Directory of Open Access Journals (Sweden)

    Sadishkumar Kamalanathan

    2012-01-01

    Full Text Available Turner′s syndrome is a genetic disorder with a complete or partial absence of one X chromosome with characteristic phenotypic features. The prevalence of renal anomalies in turner syndrome is 30-40%. However, the renal function is usually normal. We report a case of Turner′s syndrome presenting with chronic kidney disease and renal osteodystrophy.

  16. Painful bruising syndrome presenting as Persistent haematuria

    Directory of Open Access Journals (Sweden)

    Poonia Ajay

    1992-01-01

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

  17. [Yellow-nail-Syndrome associated with chronic sinusitis and recurrent pneumonias].

    Science.gov (United States)

    Schummer, Claudia; Tittelbach, Jörg; Oehler, Matthias; Höhn, Thomas; Elsner, Peter

    2015-11-01

    In a 58-year-old man progressive yellowing of all nails was associated with the diagnosis of chronic rhinosinusitis and COPD, later the COPD exacerbated with pneumonias. Repeated fungal cultures and polymerase chain reactions to detect fungal DNA in order to exclude Onychomycosis, chest X-ray, computed tomography of the lung, extended pulmonary function tests, ECG, echocardiography and abdominal ultrasonography were performed and had normal results. Normal fingernails regrew after a 6 month-course of vitamin E intake, most of the toenails remained coloured and thickened. After the initial presentation at the dermatological outpatient department the pulmonary situation remained stable, there was no need for additional pulmonary interventions. Yellowing of all nails is a diagnostic sign of the Yellow-nail-Syndrome, which is associated with respiratory diseases, the treatment is often difficult and also an interdisciplinary approach is needed. © Georg Thieme Verlag KG Stuttgart · New York.

  18. Acute sinusitis and blindness as the first presentation of chronic lymphocytic leukaemia

    NARCIS (Netherlands)

    Lim, K. H.; Thomas, G.; van Beers, E. J.; Hosman, A. E.; Mourits, M. P.; van Noesel, C. J. M.; Kater, A. P.; Reinartz, S. M.

    2014-01-01

    Chronic lymphocytic leukaemia (CLL) is the most frequent form of leukaemia among adults in the Western world, presenting at a median age of 65 years. The diagnosis is usually made incidentally during routine blood examination while the disease is still in its early phase. We report a case of

  19. Antiphospholipid antibody syndrome presenting as transverse myelitis

    OpenAIRE

    Javvid M Dandroo; Naveed Mohsin; Firdousa Nabi

    2015-01-01

    The antiphospholipid syndrome (APS) is characterized by arterial and/or venous thrombosis and pregnancy morbidity in the presence of anticardiolipin antibodies and/or lupus anticoagulant. APS can occur either as a primary disorder or secondary to a connective tissue disease, most frequently systemic lupus erythematosus. Central nervous system involvement is one of the most prominent clinical manifestations of APS, and includes arterial and venous thrombotic events, psychiatric features, and a...

  20. Superior vena cava syndrome as tumour presentation

    Directory of Open Access Journals (Sweden)

    Nuno Filipe Pires

    2010-01-01

    Full Text Available Superior vena cava syndrome (SVCS is characterised by gradual and insidious compression/obstruction of the superior vena cava (SVC. Upper chest and neck ingurgitation, plethoric face and oedema are the common symptoms/signs. It generally means the presence of neoplasm, namely lung cancer. Aim: Retrospective analysis of the patients admitted to S. João Hospital, Porto, Portugal, January 1995-December 2006 with SVCS without previous diagnosis. Patients, tumour characteristics and prognostic factors were studied. Material and methods: Data was collected by consulting the clinical files of 60 SVCS patients without previous diagnosis. Data was gathered on the patients’ demographic characteristics (age, gender, smoking habits, performance status, histology, staging, treatment and overall survival. Results: Lung cancer was observed in 87% of the patients. Small-cell lung cancer (SCLC was the most frequent histological type; 41% of the patients. It is noticeable that 10% were diagnosed with non-Hodgkin's lymphoma. In terms of prognostic factors analysed, the absence of metastasis, the lymphoma's histological diagnosis, good performance status and non-smoker status were positively correlated with the survival rate. On the contrary SCLC was significantly correlated with a worse survival. Conclusions: In our analysis we concluded that SCLC, smokers and a poorer performance status as well as metastatic disease were unfavourable prognostic factors to SVCS as tumour presentation. Resumo: A síndroma da veia cava superior (SVCS é causada por uma obstrução/compressão gradual e insidiosa da veia cava superior, caracterizando-se por fácies pletórica, edema e ingurgitamento vascular do pescoço e parte superior do tronco. É geralmente tradutora de neoplasia, sendo o cancro do pulmão a sua causa mais comum. Objectivo: Estudo retrospectivo dos internamentos no Hospital de S. João entre Janeiro de 1995 e Dezembro de 2006 por

  1. Selective inferior petrosal sinus sampling without venous outflow diversion in the detection of a pituitary adenoma in Cushing's syndrome

    International Nuclear Information System (INIS)

    Andereggen, Lukas; Schroth, Gerhard; Gralla, Jan; Ozdoba, Christoph; Seiler, Rolf; Mariani, Luigi; Beck, Juergen; Widmer, Hans-Rudolf; Andres, Robert H.; Christ, Emanuel

    2012-01-01

    Conventional MRI may still be an inaccurate method for the non-invasive detection of a microadenoma in adrenocorticotropin (ACTH)-dependent Cushing's syndrome (CS). Bilateral inferior petrosal sinus sampling (BIPSS) with ovine corticotropin-releasing hormone (oCRH) stimulation is an invasive, but accurate, intervention in the diagnostic armamentarium surrounding CS. Until now, there is a continuous controversial debate regarding lateralization data in detecting a microadenoma. Using BIPSS, we evaluated whether a highly selective placement of microcatheters without diversion of venous outflow might improve detection of pituitary microadenoma. We performed BIPSS in 23 patients that met clinical and biochemical criteria of CS and with equivocal MRI findings. For BIPSS, the femoral veins were catheterized bilaterally with a 6-F catheter and the inferior petrosal sinus bilaterally with a 2.7-F microcatheter. A third catheter was placed in the right femoral vein. Blood samples were collected from each catheter to determine ACTH blood concentration before and after oCRH stimulation. In 21 patients, a central-to-peripheral ACTH gradient was found and the affected side determined. In 18 of 20 patients where transsphenoidal partial hypophysectomy was performed based on BIPSS findings, microadenoma was histologically confirmed. BIPSS had a sensitivity of 94% and a specificity of 67% after oCRH stimulation in detecting a microadenoma. Correct localization of the adenoma was achieved in all Cushing's disease patients. BIPSS remains the gold standard in the detection of a microadenoma in CS. Our findings show that the selective placement of microcatheters without venous outflow diversion might further enhance better recognition to localize the pituitary tumor. (orig.)

  2. Neurological presentations of a secondary antiphospholipid syndrome

    Directory of Open Access Journals (Sweden)

    Yesaulenko I.E.

    2017-03-01

    Full Text Available The aim of the study is to turn the attention of specialists to antiphospholipid syndrome (APS, which is of interest to physicians of many specialties. The observation of the patient W., 32 years, with secondary APS was analyzed. Poor prognostic factors in CFA are the high frequency of thrombotic complications and thrombocytopenia, and laboratory markers — the presence of lupus anticoagulant. All patients with APS should be under medical supervision, whose main task is to assess the risk of recurrence of venous or arterial thrombosis and its prevention.

  3. Headaches and Sinus Disease

    Science.gov (United States)

    ... Cystic Fibrosis Sinusitis Q&A Complications of Sinusitis Epistaxis (Nosebleeds) Allergic Rhinitis (Hay Fever) Headaches and Sinus ... Cystic Fibrosis Sinusitis Q&A Complications of Sinusitis Epistaxis (Nosebleeds) Allergic Rhinitis (Hay Fever) Headaches and Sinus ...

  4. Sinusitis Q and A

    Science.gov (United States)

    ... Cystic Fibrosis Sinusitis Q&A Complications of Sinusitis Epistaxis (Nosebleeds) Allergic Rhinitis (Hay Fever) Headaches and Sinus ... Cystic Fibrosis Sinusitis Q&A Complications of Sinusitis Epistaxis (Nosebleeds) Allergic Rhinitis (Hay Fever) Headaches and Sinus ...

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

    LENUS (Irish Health Repository)

    Quinlan, C S

    2012-02-01

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

  6. Rapunzel Syndrome: A Rare Presentation with Giant Gastric Ulcer

    Directory of Open Access Journals (Sweden)

    Antonios Athanasiou

    2014-01-01

    Full Text Available The Rapunzel syndrome refers to an uncommon and rare form of trichobezoar that extends past the stomach into the small intestines. The Rapunzel syndrome is usually found in young female patients with a history of psychiatric disorders, mainly trichotillomania and trichophagia. We describe a case of Rapunzel syndrome in a 15-year-old girl who presented with abdominal pain, vomiting, and weight loss. We performed a surgical laparotomy and successfully removed a huge trichobezoar extending into the small intestine.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2014-10-15

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

  8. [Allergic fungal sinusitis].

    Science.gov (United States)

    Gras, J R; Lafarga, J; Ronda, J M; Trigueros, M; Sancho, M; Aracil, A

    2000-10-01

    Allergic fungal sinusitis is a recently described clinical entity that has gained increased attention as a cause of chronic sinusitis. Consist in a benign noninvasive sinus disease related to a hypersensitivity reaction to fungal antigens. It should be suspected in any atopic patient with refractory nasal polyps. Computed tomography (CT) findings are characteristics, but not diagnostic. Diagnosis requires show allergic mucin in the histopathologic examination and hiphae in special fungal stains. The suitable treatment includes the allergic mucin removal and sinus aeration accomplished endoscopically, perioperative systemic steroids and immunotherapy with fungal antigens. We present a case of this kind of chronic sinusitis describing the characteristic histopathologic and radiologic findings, the pathogenic theories and recent advances in immunotherapy.

  9. Cerebral venous sinus thrombosis in Saudi Arabia.

    Science.gov (United States)

    Algahtani, Hussein A; Abdu, Abduljaleel P; Shami, Abdulrahman M; Hassan, Ayman E; Madkour, Moustafa A; Al-Ghamdi, Saeed M; Malhotra, Ravi M; Al-Khathami, Ali M

    2011-10-01

    To analyze the clinical patterns, etiologies, treatment, and outcome of cerebral venous sinus thrombosis (CVST) in 2 major cities of Saudi Arabia, Jeddah and Al-Baha. One hundred and eleven patients diagnosed as CVST were identified from the medical records at King Abdulaziz Medical City, Jeddah, and King Fahad Hospital, Al-Baha, Saudi Arabia, from January 1990 through November 2010. We retrospectively analyzed the data, compared it with local and international studies, and reviewed the literature. There were 92 adults and 19 children. Among adults, females predominated, while more boys were affected than girls. The mean age of onset was 29.5 years. The most common clinical presentations were headache, focal neurologic deficits, seizures, papilledema, and decreased level of consciousness. The main risk factors identified were pregnancy/ puerperium, antiphospholipid antibody syndrome, oral contraceptive pills, malignancy, and infections. Multiple sinuses were affected in 51 patients (45.9%). When a single sinus was involved, the superior sagittal sinus (24.3%) was the most common. Seventy-four patients recovered completely, 23 patients recovered partially, and 10 patients died. Bad prognostic factors included incurable co-morbid conditions, late presentation, and status epilepticus. Pregnancy/puerperium was the most common etiological factor in our series. Clinical features were similar to international series. Behcet`s disease was not a major etiological factor in our series. Most patients had involvement of multiple sinuses. Prompt treatment with anticoagulation resulted in complete or partial recovery in 87.4% of patients.

  10. Bilateral Baker's cyst as the presenting symptom of paraneoplastic syndrome.

    Science.gov (United States)

    Shapira, A; Peshin, J; Lin, E; Gordin, A; Mendel, F; Herness, D

    1988-01-01

    Paraneoplastic syndrome is defined as a systemic malignancy producing prostaglandins or other substances that lead to various manifestations, syndromes or diseases. In the following report we present a case of a young patient complaining of bilateral Baker's cysts who ultimately was diagnosed as suffering from gastric lymphoma. Following subtotal gastrectomy the Baker's cysts disappeared with no specific treatment.

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

    Science.gov (United States)

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

    2006-01-01

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

  12. 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

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

    Science.gov (United States)

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

    2013-01-01

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

  14. EEC syndrome sans clefting: Variable clinical presentations in a family

    Directory of Open Access Journals (Sweden)

    Thakkar Sejal

    2007-01-01

    Full Text Available Ectrodactyly, ectodermal dysplasia and cleft palate/lip syndrome (EEC is a rare autosomal dominant syndrome with varied presentation and is actually a multiple congenital anomaly syndrome leading to intra- and interfamilial differences in severity because of its variable expression and reduced penetrance. The cardinal features include ectrodactyly, sparse, wiry, hypopigmented hair, peg-shaped teeth with defective enamel and cleft palate/lip. A family comprising father, daughter and son presented to us with split hand-split foot deformity (ectrodactyly, epiphora, hair changes and deafness with variable involvement in each family member.

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

    Directory of Open Access Journals (Sweden)

    Ozyurt Abdullah

    2015-06-01

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

  16. Meige's Syndrome: Rare Neurological Disorder Presenting as Conversion Disorder.

    Science.gov (United States)

    Debadatta, Mohapatra; Mishra, Ajay K

    2013-07-01

    Meige's syndrome is a rare neurological syndrome characterized by oromandibular dystonia and blepharospasm. Its pathophysiology is not clearly determined. A 35-year-old female presented to psychiatric department with blepharospasm and oromandibular dystonia with clinical provisional diagnosis of psychiatric disorder (Conversion Disorder). After thorough physical examination including detailed neurological exam and psychiatric evaluation no formal medical or psychiatric diagnosis could be made. The other differential diagnoses of extra pyramidal symptom, tardive dyskinesia, conversion disorder, anxiety disorder were ruled out by formal diagnostic criteria. Consequently with suspicion of Meige's syndrome she was referred to the department of Neurology and the diagnosis was confirmed. Hence, Meige's syndrome could be misdiagnosed as a psychiatric disorder such as conversion disorder or anxiety disorder because clinical features of Meige's syndrome are highly variable and affected by psychological factors and also can be inhibited voluntarily to some extent.

  17. 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.

  18. Turner Syndrome in Girls Presenting with Coarctation of the Aorta.

    Science.gov (United States)

    Eckhauser, Aaron; South, Sarah T; Meyers, Lindsay; Bleyl, Steven B; Botto, Lorenzo D

    2015-11-01

    To evaluate the frequency of Turner syndrome in a population-based, statewide cohort of girls with coarctation of the aorta. The Utah Birth Defects Network was used to ascertain a cohort of girls between 1997 and 2011 with coarctation of the aorta. Livebirths with isolated coarctation of the aorta or transverse arch hypoplasia were included and patients with complex congenital heart disease not usually seen in Turner syndrome were excluded. Of 244 girls with coarctation of the aorta, 77 patients were excluded, leaving a cohort of 167 girls; 86 patients (51%) had chromosomal studies and 21 (12.6%) were diagnosed with Turner syndrome. All patients were diagnosed within the first 4 months of life and 5 (24%) were diagnosed prenatally. Fifteen patients (71%) had Turner syndrome-related findings in addition to coarctation of the aorta. Girls with mosaicism were less likely to have Turner syndrome-associated findings (3/6 mosaic girls compared with 12/17 girls with non-mosaic 45,X). Twelve girls (57%) diagnosed with Turner syndrome also had a bicommissural aortic valve. At least 12.6% of girls born with coarctation of the aorta have karyotype-confirmed Turner syndrome. Such a high frequency, combined with the clinical benefits of an early diagnosis, supports genetic screening for Turner syndrome in girls presenting with coarctation of the aorta. Copyright © 2015 Elsevier Inc. All rights reserved.

  19. Atypical presentation of HELLP syndrome: clinical case report

    Directory of Open Access Journals (Sweden)

    Juan Manuel Tobar Parra

    2017-12-01

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

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

    African Journals Online (AJOL)

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

  1. 513 CS sick sinus.indd

    African Journals Online (AJOL)

    2010-01-29

    Jan 29, 2010 ... Abstract. Sick sinus syndrome is a generalised abnormality of cardiac impulse formation that may be caused either by an intrinsic disease of the sinus node, which makes it unable to perform its pacemaking function, or by extrinsic factors. It commonly affects elderly persons. While the syndrome can have ...

  2. 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

  3. Gitelman′s syndrome: Rare presentation with growth retardation

    Directory of Open Access Journals (Sweden)

    A Gaur

    2014-01-01

    Full Text Available Gitelman′s syndrome is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis, hypokalemia, hypomagnesaemia, hypocalciuria, hyperreninemia and without hypertension. Gitelman′s syndrome is caused by mutations of the SLC12A3 gene, which encodes the Na/Cl co-transporter (NCCT in the distal convoluted tubule. Majority of cases manifest during adolescence or adulthood and growth retardation is not the common feature. We report a rare presentation of Gitelman′s syndrome in a four-year-old boy with growth retardation.

  4. Metastatic neuroendocrine tumor with initial presentation of orbital apex syndrome

    Directory of Open Access Journals (Sweden)

    Yen-Yu Huang

    2017-03-01

    Full Text Available The possible etiologies of orbital apex syndrome range from inflammatory, infectious, neoplastic, iatrogenic/traumatic, to vascular processes. In patients without obvious infection or systemic cancer history, judicious use of corticosteroids is a reasonable strategy. We describe a 64-year-old man who presented with orbital apex syndrome and had progressed to total visual loss in three days after admission. Radiological imaging and pathological studies were consistent with a neuroendocrine tumor with multiple metastases. We recommend that a biopsy-proven specimen is warranted in patient with orbital apex syndrome even without a cancer history.

  5. Wolf-Parkinson-White syndrome in young men presenting with palpitation: the pattern of delta waves in predicting location of accessory pathway

    Directory of Open Access Journals (Sweden)

    Miryanti Cahyaningtias

    2011-11-01

    Full Text Available Palpitation is a common presenting symptom in the emergency department. Wolf-Parkinson White (WPW syndrome is a cardiac conduction disorder that may present with palpitation and lead to sudden cardiac death. WPW could be detected by  electrocardiogram (ECG. In this case report, we present two young male patients with WPW syndrome admitted to our hospital with history of repeated and progressive palpitation. ECG of the first patient revealed supraventricular tachycardia which converted to sinus rhythm after propanolol treatment. ECG showed sinus rhythm with delta wave in lead II,III,aVF, V1 suggesting the presence of accessory pathway (AP in left lateral wall. Electrophysiology study confirmed the presence of AP and radio frequency catheter ablation was successfully done resulted in disappearance of delta on outpatient clinic ECG. Patient has no symptom and he do not have to take medication. ECG of the second patient revealed supraventricular tachycardia with abberancy. After amiodarone infusion, ECG showed sinus rhythm with delta wave in lead I,II,aVL suggesting the presence of accessory pathway in anteroseptal wall. Electrophysiology study and catheter ablation did not perform for this patient because of financial problem, however amidarone has to be taken regularly to prevent the recurrence of supraventricular tachycardia. (Med J Indones 2011; 20:298-301Keywords: ECG, palpitation, supraventricular tachycardia, Wolf- Parkinson White syndrome

  6. Nelson′s syndrome presenting as bilateral oculomotor palsy

    Directory of Open Access Journals (Sweden)

    Abhay Gundgurthi

    2013-01-01

    Full Text Available Nelson′s syndrome refers to a clinical spectrum arising from progressive enlargement of pituitary adenoma and elevated adrenocorticotrophic hormone after total bilateral adrenalectomy for Cushing′s disease comprising of hyperpigmentation, visual field defects which can be life threatening. We report here a 50-year male presenting with rapid onset of Nelson′s syndrome with an unusual finding of bilateral oculomotor palsy mistakenly treated as ocular myasthenia.

  7. Atypical Presentation of Sjögren-Larsson Syndrome

    Directory of Open Access Journals (Sweden)

    D. Papathemeli

    2017-01-01

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

  8. 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.

  9. Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome.

    Directory of Open Access Journals (Sweden)

    Junhong Gui

    2010-06-01

    Full Text Available To identify molecular mechanisms underlying SCN5A-related sick sinus syndrome (SSS, a rare type of SSS, in parallel experiments we elucidated the electrophysiological properties and the cell surface localization of thirteen human Na(v1.5 (hNa(v1.5 mutant channels previously linked to this disease.Mutant hNa(v1.5 channels expressed by HEK293 cells and Xenopus oocytes were investigated by whole-cell patch clamp and two-microelectrode voltage clamp, respectively. HEK293 cell surface biotinylation experiments quantified the fraction of correctly targeted channel proteins. Our data suggested three distinct mutant channel subtypes: Group 1 mutants (L212P, P1298L, DelF1617, R1632H gave peak current densities and cell surface targeting indistinguishable from wild-type hNa(v1.5. Loss-of-function of these mutants resulted from altered channel kinetics, including a negative shift of steady-state inactivation and a reduced voltage dependency of open-state inactivation. Group 2 mutants (E161K, T220I, D1275N gave significantly reduced whole-cell currents due to impaired cell surface localization (D1275N, altered channel properties at unchanged cell surface localization (T220I, or a combination of both (E161K. Group 3 mutant channels were non-functional, due to an almost complete lack of protein at the plasma membrane (T187I, W1421X, K1578fs/52, R1623X or a probable gating/permeation defect with normal surface localisation (R878C, G1408R.This study indicates that multiple molecular mechanisms, including gating abnormalities, trafficking defects, or a combination of both, are responsible for SCN5A-related familial SSS.

  10. Respiratory Sinus Arrhythmia and its Association with Pain in Women with Fibromyalgia Syndrome.

    Science.gov (United States)

    Zamunér, Antonio R; Forti, Meire; Andrade, Carolina P; Avila, Mariana Arias; da Silva, Ester

    2016-07-01

    To assess the cardiac autonomic control at rest and during the deep breathing test (DBT) and its association with pain in women with fibromyalgia syndrome (FMS). The study included 20 women with FMS and 20 healthy women (control group, CG). The pain was quantified by assessing the pressure pain threshold (PPT), VAS of pain, and the pain component of the SF-36 questionnaire. The RR intervals were recorded in the supine position and during the DBT. The heart rate variability (VHR) was measured by methods in the time and frequency domain. The group with FMS had abnormal cardiac autonomic modulation at rest and during DBT, compared to CG (P pain component of the SF-36 and the E/I ratio (r = 0.49), ΔFC (r = 0.45) and DEP (r = 0.50) indices of DBT. Significant correlations were observed between the FIQ questionnaire and the LF/HF ratio index in the supine position and the E/I ratio (r = -0.63), ΔFC (r = -0.54), and DEP (r = -0.51) indices of DBT. The results of VHR indices during the supine position and the DBT women with FMS suggest impairment of neurocardiac integrity associated with pain and the impact of FMS on the quality of life. © 2015 World Institute of Pain.

  11. Phakomatosis pigmentovascularis presenting with Sturge-Weber syndrome and Klippel-Trenaunay syndrome

    Directory of Open Access Journals (Sweden)

    Sumit Sen

    2015-01-01

    Full Text Available Phakomatosis pigmentovascularis (PPV is a rare cutaneous disorder characterized by combination of capillary malformation and other pigmented naevi. Four types and two subtypes have been described where subtype ′a′ present only with cutaneous form and subtype ′b′ also with systemic association like in Sturge-Weber syndrome or Klippel-Trenaunay syndrome. Hereby, we report a case where our patient presented with port-wine stain, Nevus of Ota, Sturge-Weber syndrome, and Klippel-Trenaunay syndrome; which has made it a rare combination.

  12. Phakomatosis Pigmentovascularis Presenting with Sturge-Weber Syndrome and Klippel-Trenaunay Syndrome

    Science.gov (United States)

    Sen, Sumit; Bala, Sanchaita; Halder, Chinmay; Ahar, Rahul; Gangopadhyay, Anusree

    2015-01-01

    Phakomatosis pigmentovascularis (PPV) is a rare cutaneous disorder characterized by combination of capillary malformation and other pigmented naevi. Four types and two subtypes have been described where subtype ‘a’ present only with cutaneous form and subtype ‘b’ also with systemic association like in Sturge-Weber syndrome or Klippel-Trenaunay syndrome. Hereby, we report a case where our patient presented with port-wine stain, Nevus of Ota, Sturge-Weber syndrome, and Klippel-Trenaunay syndrome; which has made it a rare combination. PMID:25657402

  13. Not the usual sinusitis

    Science.gov (United States)

    Ammar, Hussam; Kott, Amy; Fouda, Ragai

    2012-01-01

    An encephalocele is a protrusion of the cranial contents beyond the normal confines of the skull. It is a rare cause of seizure in adults. A 38-year-old woman presented with a first-onset seizure. Brain CT was interpreted as right frontal sinus opacification suggestive of sinusitis. The patient was discharged home with an amoxicillin prescription. A few days later, she was re-admitted with another seizure. Careful evaluation of the brain CT and MRI revealed a right frontal sinus posterior wall defect and possible brain encephalocele. The patient had complained of chronic nasal discharge for years and had also noticed a watery discharge from her right nostril. We suspected cerebrospinal fluid rhinorrhea. A bifrontal craniotomy was performed, the encephalocele was resected and cranialisation of the frontal sinus was completed. The patient remained free of seizures at the last follow-up. PMID:23188840

  14. Conus Medullaris Arachnoid Cyst Presenting as Cauda Equina Syndrome.

    Science.gov (United States)

    Sharif, Salman; Afsar, Afifa; Qadeer, Mohsin

    2017-01-01

    Intradural arachnoid cysts are a rare cause of spinal cord and nerve root compression. Primarily, they are present in the thoracic region posteriorly. We report a 25-year-old man who had an intradural arachnoid cyst at the level of conus medullaris presenting with cauda equina syndrome, which is very rare.

  15. An unusual ocular presentation of acquired immune deficiency syndrome

    Directory of Open Access Journals (Sweden)

    Arunachalam Cynthia

    2008-01-01

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

  16. Thoracic Outlet Syndrome: A Significant Family Genetic Phenotypic Presentation.

    Science.gov (United States)

    Janák, David; Novotný, Karel; Roček, Miloslav; Rohn, Vilém

    We report on a very rare case of diagnosis and successful surgical treatment of three young family members with a four-fold presentation of thoracic outlet syndrome. In the relevant family case, we are considering and discussing the population incidence, a possible HOX genes disorder, and a significant phenotypic presentation.

  17. Branchio-oto-renal syndrome presenting with syndrome of hyporeninemic hypoaldosteronism

    Directory of Open Access Journals (Sweden)

    Jane Jackie David

    2017-01-01

    Full Text Available Branchio-oto-renal (BOR syndrome is an autosomal dominant, clinically heterogeneous disorder characterized by branchial arch anomalies, hearing impairment, and renal malformations. We report the case of a 10-year-old boy with BOR syndrome who presented with hyperkalemic hyperchloremic metabolic acidosis due to hyporeninemic hypoaldosteronism. The child also had mental retardation and spastic diplegia which have hitherto not been described in BOR syndrome.

  18. Sinus Anatomy

    Science.gov (United States)

    ... is cleared out of the sinus cavities and drains into the nasal passage. The right and left nasal passages are separated in the middle by a vertical plate of cartilage and bone called the nasal ...

  19. 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.

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

    Science.gov (United States)

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

    2015-09-01

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

  1. Visceral Myopathy Presenting as Acute Appendicitis and Ogilvie Syndrome

    OpenAIRE

    Kharbuja, Punyaram; Thakur, Raghvendra; Suo, Jian

    2013-01-01

    Background. Visceral myopathy is rare pathological condition of gastrointestinal tract with uncertain clinical presentation and unknown etiology. It often presents with symptoms of chronic intestinal pseudoobstruction of colon. We report a case of visceral myopathy which presented to us as acute appendicitis and Ogilvie syndrome, and we managed it surgically. Method and Result. A case report of 20-year female clinically presented as acute appendicitis and we performed laparoscopic exploratio...

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

    Directory of Open Access Journals (Sweden)

    Sheikh Shoib

    2013-02-01

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

  3. Atypical presentation of Goldenher syndrome- a rare scenario

    Directory of Open Access Journals (Sweden)

    C Lath

    2014-04-01

    Full Text Available In 1952 Goldenher described a case with triad of pre auricular tags, mandibular hypoplasia and ocular (epibulbar dermoid and described the case as Goldenger Syndrome. Exact etiology of this disease is not known. Here we present a case of Goldenher syndrome in a 5 days old newborn who presented with all the classical features except ocular involvement.   Gorlin et.al named this syndrome as oculoauriculovertebral dysplasia due to presence of additional vertebral anomalies .2 Exact etiology of this disease is not known. Most of the cases are sporadic, though autosomal recessive, autosomal dominant and multifactorial inheritance has also been suggested.2.Chromosomal analysis shows no abnormalities.3 In this report we presented a case of Goldenger Syndrome in a 5 days old newborn who presented with all the classical features except occular involvement. Journal of College of Medical Sciences-Nepal, 2013, Vol-9, No-4, 59-62 DOI: http://dx.doi.org/10.3126/jcmsn.v9i4.10239

  4. 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.

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

    African Journals Online (AJOL)

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

  6. Addison's disease presenting as acute chest syndrome: Case report ...

    African Journals Online (AJOL)

    Addison's disease presenting as acute chest syndrome: Case report and review of literature. MR Akpa, OJ Odia. Abstract. No Abstract. Nigerian Journal of Medicine Vol. 15 (4) October-December 2006: 451-452. Full Text: EMAIL FULL TEXT EMAIL FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT.

  7. Hypophosphatemic Rickets: Presenting Features of Fanconi—Bickel Syndrome

    Directory of Open Access Journals (Sweden)

    Mahua Roy

    2011-01-01

    Full Text Available Fanconi-Bickel Syndrome (FBS is a rare variety of glycogen storage disease (GSD. Characterized by massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets, and marked growth retardation due to proximal renal tubular dysfunction. We report a young boy presented as hypophosphatemic rickets with hepatomegaly and subsequently diagnosed as FBS.

  8. Epithelioid sarcoma presenting as the reflex sympathetic dystrophy syndrome.

    Science.gov (United States)

    Summers, C. L.; Shahi, M.

    1987-01-01

    A case of reflex sympathetic dystrophy caused by an epithelioid sarcoma is presented. This is the first report of a local peripheral tumour associated with the reflex sympathetic dystrophy syndrome. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 PMID:3671265

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

    African Journals Online (AJOL)

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

  10. Mounier-Kuhn syndrome: radiological findings and clinical presentation

    Energy Technology Data Exchange (ETDEWEB)

    Bastos, Andrea de Lima [Hospital Julia Kubitschek-FHEMIG, Belo Horizonte, MG (Brazil). Unidade de Diagnostico por Imagem; Brito, Isabela Lage Alves, E-mail: andblima@yahoo.com.b [Hospital Julia Kubitschek-FHEMIG, Belo Horizonte, MG (Brazil). Dept. de Pneumologia

    2011-05-15

    Mounier-Kuhn syndrome is a rare disease clinically characterized by recurrent respiratory infections. The present report describes a case of this disease with analysis of chest radiography and high resolution computed tomography showing increased caliber of the trachea, main bronchi and central bronchiectasis. Such changes, in association with clinical data, suggest the diagnosis. (author)

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

    African Journals Online (AJOL)

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

  12. Bardet-biedl syndrome presenting with end stage renal failure

    International Nuclear Information System (INIS)

    Ansari, R.M.; Junejo, A. M.

    2006-01-01

    A young male presented in the Nephro-Urology Department with advanced renal failure, blindness in early childhood, polydactaly,obesity, decreased mentation and hypogonadism. With these phenotypical features and renal ultrasonographic findings, he was diagnosed as a case of Bardet-Biedl syndrome. Only one younger sister of patient had similar features. Renal impairment is frequent and an important cause of death. End stage renal disease (ESRD) is rarely seen in younger patient of Bardet-Biedl syndrome. However, ESRD in early age is associated with substantially reduced survival. (author)

  13. DISCOGENIC RADICULOMYELOISCHEMIC LUMBAL SYNDROME IN CHILDREN - PRESENTATION OF ONE PATIENT

    Directory of Open Access Journals (Sweden)

    Zoran Perić

    2000-03-01

    Full Text Available The paper presents fhe emergence of the discogenic radiculomyeloischemic (RMI lumbal syndrome in a 12 year old girl. The medial prolapses of the discus at the L3-L4 and L4-L5 levels have caused the emergence of the bilateral radicular syndrome while the compression of the Adamkiewitcz artery has caused the generation of the distal thoracic and lumbalosacral part of the spinal cord. In the clinic image there was an evident association of the prominent painful syndrome and paraparesis without any disturbance of the sphincter control. The appearance of the signs of the vegetative vasculardisturbances on the legs represents an important part of theclinic image of this syndrome in children. The extensive clinic, electrophysiolgical radiological and laboratory examination has been carried out on the patient. On the basis of the obtained results it can be concluded that an early diagnosis of the discogenic RMI lumbal syndrome in children, beside a detailed radiological examination, very often requires - as a part of the additional examinations - the scanning of the spinal column and the spinal cord by magnetic resonance since a timely carried out operative treatment can lead to the complete recovery of such patients.

  14. An Unusual Presentation of Zollinger-Ellison Syndrome

    Directory of Open Access Journals (Sweden)

    Emanuele Sinagra

    2013-01-01

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

  15. Fecal microbiota transplantation in metabolic syndrome: History, present and future.

    Science.gov (United States)

    de Groot, P F; Frissen, M N; de Clercq, N C; Nieuwdorp, M

    2017-05-04

    The history of fecal microbiota transplantation (FMT) dates back even to ancient China. Recently, scientific studies have been looking into FMT as a promising treatment of various diseases, while in the process teaching us about the interaction between the human host and its resident microbial communities. Current research focuses mainly on Clostridium difficile infections, however interest is rising in other areas such as inflammatory bowel disease (IBD) and the metabolic syndrome. With regard to the latter, the intestinal microbiota might be causally related to the progression of insulin resistance and diabetes. FMT in metabolic syndrome has proven to be an intriguing method to study the role of the gut microbiota and open the way to new therapies by dissecting in whom insulin resistance is driven by microbiota. In this article we review the history of FMT, the present evidence on its role in the pathophysiology of metabolic syndrome and its efficacy, limitations and future prospects.

  16. Mucocele of the sphenoid sinus

    Energy Technology Data Exchange (ETDEWEB)

    Haloi, Achyut K.; Ditchfield, Michael [Royal Children' s Hospital, Department of Medical Imaging, Melbourne (Australia); Maixner, Wirginia [Royal Children' s Hospital, Department of Neurosurgery, Melbourne (Australia)

    2006-09-15

    The sphenoid sinus is the least common site of mucocele of all paranasal sinuses. It is very rare in children, especially in those younger than 12 years when pneumatization of the sphenoid sinus is completed. We report a case of histologically proven sphenoidal mucocele in a 5-year-old child. The child presented with an acute onset of significant visual impairment and headache. His vision gradually improved after trans-nasal sphenoidotomy and drainage of the sinus content with return of complete normal baseline vision after 2 months. (orig.)

  17. Mucocele of the sphenoid sinus

    International Nuclear Information System (INIS)

    Haloi, Achyut K.; Ditchfield, Michael; Maixner, Wirginia

    2006-01-01

    The sphenoid sinus is the least common site of mucocele of all paranasal sinuses. It is very rare in children, especially in those younger than 12 years when pneumatization of the sphenoid sinus is completed. We report a case of histologically proven sphenoidal mucocele in a 5-year-old child. The child presented with an acute onset of significant visual impairment and headache. His vision gradually improved after trans-nasal sphenoidotomy and drainage of the sinus content with return of complete normal baseline vision after 2 months. (orig.)

  18. Computed Tomography (CT) -- Sinuses

    Medline Plus

    Full Text Available ... of the sinuses is primarily used to: help diagnose sinusitis . evaluate sinuses that are filled with fluid or thickened sinus membranes . detect the presence of inflammatory diseases. provide additional information about tumors of the nasal ...

  19. Melkersson-Rosenthal Syndrome Presenting as Chronic Eyelid Swelling.

    Science.gov (United States)

    Kondratiev, Svetlana; Heher, Katrinka; Baker, Brad J; Laver, Nora V

    2010-03-09

    Melkersson-Rosenthal Syndrome (MRS) is a rare disorder characterized by orofacial edema, facial palsy, and fissured tongue. A 64-year-old man presented with a fissured tongue and persistent chronic right upper eyelid edema of 15 years duration. The diagnostic biopsy revealed non-necrotizing granulomatous inflammation adjacent to blood and lymphatic vessels. Characteristic granulomas with focal occlusion of dilated lymphatic channels were present. Special stains for fungi, acid-fast microorganisms and bacteria were negative. Ptosis due to a mechanical effect of the persistent eyelid edema required surgical treatment including debulking and advancement of the levator muscle. At 6 months after surgery the patient showed symmetrical eyelid position without edema. The case demonstrates an uncommon presentation of Melkersson-Rosenthal syndrome with prominent upper eyelid edema and lingua plicata, which was initially misdiagnosed. The clinical findings coupled with the characteristic granulomatous lymphangitis present in the biopsy are crucial for a definite diagnosis. Copyright 2010, SLACK Incorporated.

  20. Venous sinus stenting for pseudotumour cerebri with venous sinus stenosis

    International Nuclear Information System (INIS)

    Chen Huairui; Bai Rulin; Wu Xiaojun; Qi Xiangqian; Mei Qiyong; Lu Yicheng

    2011-01-01

    Objective: To explore the relation between venous sinus stenosis and pseduotumour cerebri and to discuss the efficacy and strategy of venous sinus stenting for its treatment. Methods: Venous sinus stenting was performed in a total of 9 patients with pseudotumour cerebri accompanied by dural sinus stenosis. The clinical data, including the clinical presentations, intracranial pressure, angiographic findings, pressure of dural sinus,methods of treatment and the therapeutic results, were retrospectively analyzed. Results: Bilateral disc edema was seen in all patients. The pressure gradient in the lateral sinuses was obviously high before stenting (22.67±7.25)mmHg in all patients and a reduction in intra-sinus pressure and pressure gradient was also found (5.78±3.77)mmHg. The symptoms associated with intracranial hypertension were gradually improved or disappeared in two weeks after the placement of the stent in all cases, and the intracranial pressure dropped evidently (12.78±5.97)cm H 2 O. Vision was improved in 7 cases at three months, whereas it remained poor in 2 cases despite normalized intracranial pressure. There was no other permanent procedure-related morbidity. The patients were followed up for 3 months to 5 years, and no recurrence developed. Conclusion: Lateral sinus stenting is an effective method for the treatment of pseudotumour cerebri with dural sinus stenosis. (authors)

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

    OpenAIRE

    Shah, Ashok; Gera, Kamal; Panjabi, Chandramani

    2016-01-01

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

  2. Clinical presentation & management of glomerular diseases: hematuria, nephritic & nephrotic syndrome.

    Science.gov (United States)

    Khanna, Ramesh

    2011-01-01

    Because the differential diagnosis for glomerulonephritis (GN) is broad, using a classification schema is helpful to narrow the causes of GN in a systematic manner. The etiology of glomerulonephritis can be classified by their clinical presentation (nephrotic, nephritic, rapidly progressive GN, chronic GN) or by histopathology. GN may be restricted to the kidney (primary glomerulonephritis) or be a secondary to a systemic disease (secondary glomerulonephritis). The nephrotic syndrome is defined by the presence of heavy proteinuria (protein excretion greater than 3.0 g/24 hours), hypoalbuminemia (less than 3.0 g/dL), and peripheral edema. Hyperlipidemia and thrombotic disease may be present. The nephritic syndrome is associated with hematuria and proteinuria and abnormal kidney function and carries poorer prognosis and is typically associated with hypertension. The predominant cause of the nephrotic syndrome in children is minimal change disease. The most common causes of nephritic syndrome are post infectious GN, IgA nephropathy and lupus nephritis. Chronic GN is slowly progressive and is associated with hypertension and gradual loss of kidney function. Treatment includes non-specific measure aimed at controlling hypertension, edema, proteinuria and disease modifying immunosuppression.

  3. 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.

  4. Chediak-Higashi syndrome presenting in accelerated phase.

    Science.gov (United States)

    Imran, Tanzeel; Zafar, Lubna; Rehan, Madeeha; Nasir, Aqsa; Tariq, Parveen Akhtar; Batool, Iffat

    2012-08-01

    Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder, characterized by silver hair, recurrent infections, partial oculo-cutaneous albinism, mild coagulation defect and progressive neuropathy. The characteristic feature of CHS is the presence of huge lysosomes and cytoplasmic inclusions within different body cells like the white blood cells. The disease has an early onset but usually presents in an accelerated phase. We present a case of a 2 years old boy with high grade fever, bilateral cervical lymphadenopathy, hepatosplenomegaly, abdominal distention of 28 days duration. He was diagnosed with Chediak-Higashi syndrome in accelerated phase on the basis of clinical presentation, morphological findings on peripheral blood film and bone marrow aspirate.

  5. Idiopathic Atypical Haemolytic Uraemic Syndrome presenting with acute dystonia

    LENUS (Irish Health Repository)

    Maduemem, Rizwan K E

    2017-09-01

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

  6. Guillain-Barre Syndrome Presenting as Acute Abdomen

    Directory of Open Access Journals (Sweden)

    Faruk incecik

    2015-09-01

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

  7. 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.

  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. Sinusitis: Overview

    Science.gov (United States)

    ... congestion. Your doctor may suggest a decongestant nasal spray to treat swelling. Do not use this for more than 3 days. It can worsen the swelling in your sinuses once you stop using the medicine. A process called nasal irrigation can provide relief. A saline solution through a ...

  10. Fibrous dysplasia of the paranasal sinuses.

    Science.gov (United States)

    Feldman, M D; Rao, V M; Lowry, L D; Kelly, M

    1986-09-01

    Fibrous dysplasia (FD) of the paranasal sinuses is rare and often presents a diagnostic challenge. It is usually secondary to extension of disease from adjacent bones and is rarely limited to the sinuses. We have described three cases of FD involving the paranasal sinuses, including the first reported case of FD isolated to the sphenoid sinus. A brief update of the clinical aspects, radiographic appearance, diagnosis, and management of craniofacial FD is provided.

  11. 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

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

    Science.gov (United States)

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

    2014-01-01

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

  13. Sudden Hemianopsia Secondary to Ethmoid Sinus Mucocele

    Directory of Open Access Journals (Sweden)

    Morganti, Ligia

    2014-01-01

    Full Text Available Paranasal sinus mucoceles are benign cystic lesions, filled with mucus, occurring due to an obstruction of involved sinus ostium. They are indolent, locally expansive, and destructive. Surgical treatment must be performed and, when done at the correct time, may prevent sequelae. We present a case of ethmoid sinus mucocele with orbit involvement and permanent optical nerve injury.

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

    Directory of Open Access Journals (Sweden)

    Patricia Chavez

    2014-01-01

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

  15. Rendu-Osler-Weber syndrome presenting with pulmonary arteriovenous fistula

    International Nuclear Information System (INIS)

    Halefoglu, A.M.

    2005-01-01

    A pulmonary arteriovenous fistula is an abnormal connection between pulmonary arteries and veins. Patients with Rendu-Osler-Weber syndrome may present with this vascular malformation, which is a typical finding of the disease. Approximately 5-15% of Rendu-Osler-Weber syndrome patients have pulmonary arteriovenous malformations (AVM) and there is usually a family history of AVM in these patients. The malformations are usually located in the lower lobes. In this paper, I describe a 49-year-old male patient with dyspnoea, cough, haemoptysis and epistaxis. Physical examination showed nasal telangiectasias, cyanosis of the lips and nails, and a systolic bruit over the left lung. Chest X-ray revealed a 5-cm mass in the left lower lobe and after magnetic resonance examination, together with 3-D magnetic resonance angiography, it was demonstrated to be a pulmonary arteriovenous fistula. The history of a niece with a similar history of suspected pulmonary arteriovenous fistula led me to consider the possibility of Rendu-Osler-Weber syndrome presenting with a pulmonary arteriovenous fistula. Copyright (2005) Blackwell Science Pty Ltd

  16. Kartagener's Syndrome

    African Journals Online (AJOL)

    GB

    presenting with recurrent upper and lower respiratory tract infections, sinusitis or bronchiectasis. Inability to diagnose this condition may subject the patient to unnecessary and repeated hospital admissions, investigations and treatment failure. KEY WORDS: Kartagener's syndrome, primary cilliary dyskinesia, situs inversus, ...

  17. 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)

  18. Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus

    Directory of Open Access Journals (Sweden)

    Gianluca Vergine

    2018-01-01

    Full Text Available Bartter syndrome (BS type 1 (OMIM #601678 is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the SLC12A1 gene, encoding the furosemide-sensitive Na-K-Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis. We report the case of a child with a genetically determined diagnosis of Bartter syndrome type 1 who presented with a phenotype of nephrogenic diabetes insipidus, with severe hypernatremia and urinary concentrating defect. In these atypical cases, molecular analysis is mandatory to define the diagnosis, in order to establish the correct clinical and therapeutic management.

  19. Atypical presentation of posterior reversible encephalopathy syndrome: Two cases

    Directory of Open Access Journals (Sweden)

    Nishant Kumar

    2018-01-01

    Full Text Available Posterior reversible encephalopathy syndrome (PRES is a clinico-neuroradiological entity, first described in 1996. It is commonly associated with systemic hypertension, intake of immunosuppressant drugs, sepsis and eclampsia and preeclampsia. Headache, alteration in consciousness, visual disturbances and seizures are common manifestations of PRES. Signs of pyramidal tract involvement and motor dysfunction are uncommon clinical findings. However, clinical presentation is not diagnostic. On neuroimaging, lesions are characteristically found in parieto occipital region of the brain due to vasogenic edema. We report two cases of PRES with atypical clinical presentation-one which was suggestive of neurocysticercosis and the other in which agitation and opisthotonic posture were predominant features.

  20. Macrophage Activation Syndrome as Initial Presentation of Systemic Lupus Erythematosus

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    Say-Tin Yeap

    2008-04-01

    Full Text Available Macrophage activation syndrome (MAS is known to be a severe and potentially life-threatening complication of rheumatic disorder, especially systemic juvenile rheumatoid arthritis. It is very rare for MAS to be an initial presentation of systemic lupus erythematosus (SLE. Here, we report a 14-year-old girl in whom MAS developed as an initial presentation of SLE. With early diagnosis and administration of cyclosporine A, she had a fair outcome. Further testing showed positive anti-dsDNA about 8 months later.

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

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    Miguel Ángel Serra Valdés

    2013-03-01

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

  2. Chediak-Higashi syndrome presenting in the accelerated phase

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    Subramani Palaniyandi

    2017-07-01

    Full Text Available Chediak-Higashi syndrome (CHS is an extremely rare autosomal recessive disorder characterised by recurrent pyogenic infections, partial oculocutaneous albinism, and mild bleeding. The most reliable finding that helps in diagnosis is abnormally large granules in leukocytes and other granule-containing cells. Herein we report a case of CHS in a 3-month-old girl who presented to us in the accelerated phase of the disease. The case is reported because of the extreme rarity of CHS presenting in the accelerated phase at diagnosis.

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

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    Pallavi Periwal

    2016-01-01

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

  4. Laryngeal carcinoma presenting as polymyositis: A paraneoplastic syndrome

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    Ritesh Sahu

    2016-01-01

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

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

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    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. Transient Neonatal Diabetes as a Presentation of Fanconi- Bickel Syndrome

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    Aria Setoodeh

    2012-12-01

    Full Text Available Fanconi- Bickel Syndrome (FBS is a rare type of glycogen storage disease (GSD Characterized by hepatomegaly, proximal renal tubular acidosis (RTA and marked growth retardation. We report a case of FBS presenting with diabetic ketoacidosis and transient neonatal diabetes. A female infant, product of consanguineous marriage presented with diabetic ketoacidosis at age 33 days, and was treated as neonatal diabetes with insulin. At age 14 months, insulin was discontinued. She presented with short stature, hepatomegaly, RTA and hypophosphatemic rickets at age 4 and (FBS was diagnosed. Diagnosis was confirmed by mutation analysis, showing mutation in SLC2 A2 gene. In conclusion,: neonatal diabetes or diabetic ketoacidosis may be the first presentation of infants with FBS.

  7. Primitive neuroectodermal tumor presenting with superior vena cava syndrome

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    Vimal Kumar Nag

    2014-01-01

    Full Text Available Peripheral primitive neuroectodermal tumor (PNET of the chest wall is considered akin to Ewing′s sarcoma in terms of histology, immunohistology and cytogenetics. These tumors usually occur in children and young adults. These tumors usually present with cough, fever, chest pain and hemoptysis. Initial presentation as superior vena cava syndrome (SVCS is rarely seen. Complete blockage of venous drainage in SVCS may lead to fatal outcome. These tumors are highly aggressive with a high incidence of local recurrence and distant metastases. Combination therapy comprising of chemotherapy, radiotherapy and surgery can be lifesaving in these patients. We present a case of primary mediastinal PNET in a 12-year-old girl. To the best of our knowledge, this is the first case of PNET presenting with SVCS in children.

  8. [The psychological characteristics of the patents presenting with pain syndrome].

    Science.gov (United States)

    Aĭvazian, T A; Zaĭtsev, V P

    2014-01-01

    The psychological characteristics of 336 patients presenting with chronic somatic diseases and long-standing pain syndrome were analysed. It was found that the severity of pain is related to the combination of hypochondriacal, anxious and depressive disorders with rigidity and the tendency toward the formation of various fixations. The impaired quality of life in these patients was attributable to their dissatisfaction about limitations of daily physical activity and communication, as well as to the attitude of the relatives that changed after the disease was confirmed.

  9. A rare case of fish odor syndrome presenting as depression.

    Science.gov (United States)

    Khan, Shahbaz Ali; Shagufta, K

    2014-04-01

    A young lady presents to the psychiatry out-patient department with depressive symptoms. Evaluation revealed long standing stressor in the form of a foul odor emanating from her body and over a period of time resulting in social withdrawal and depression with significant impairment of day-to-day functioning. A diagnosis of trimethylaminurea (fish odor syndrome) and adjustment disorder was arrived at. Careful empathetic handling with psychoeducation, behavioral and cognitive counseling and a short course of antidepressants helped her improve significantly with return to almost normal functioning.

  10. Atypical Presentation of Antiphospholipid Syndrome: A Case Report

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    Cesare Mariotti

    2014-11-01

    Full Text Available We report an atypical presentation of Antiphospholipid syndrome (APS with concomitant subhyaloid hemorrhage, engorged and tortuous retinal veins, intraretinal hemorrhages, and cotton wool spots in a 38-year-old female. Medical treatment was preferred to any invasive treatment. The subhyaloid hemorrhage resolved spontaneously and the patient recovered a visual acuity of 20/20 in her right eye 3 months after the initial episode. A prompt diagnosis of this condition is fundamental to consider a systemic treatment to avoid any further thrombosis.

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

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    John E. Lawrence

    2016-01-01

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

  12. Primary pancreatic neuroblastoma presenting with opsoclonus–myoclonus syndrome

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    Samuel Galgano, MD

    2016-03-01

    Full Text Available Although neuroblastoma is a common solid organ malignancy in children, primary pancreatic neuroblastoma is a rare entity in children, with very few cases reported in the literature. The case discusses the presentation of a 21-month-old female presenting to the neurology clinic with ataxia and erratic eye movements. Our case illustrates the computed tomography, ultrasound, and scintigraphic findings of primary pancreatic neuroblastoma presenting as opsoclonus–myoclonus syndrome. Computed tomography and ultrasound demonstrated a vascular, enhancing mass in the pancreatic body clearly separate from the adrenal gland. Metaiodobenzylguanidine scan demonstrates focal intense uptake in the pancreatic body. The patient's diagnosis was confirmed with biopsy, and her malignancy responded well to conventional chemotherapy. The case is important in that it demonstrates the unusual imaging appearance of a primary pancreatic neuroblastoma.

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

    Science.gov (United States)

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

    2017-10-01

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

  14. Computed Tomography (CT) -- Sinuses

    Medline Plus

    Full Text Available ... diagnose sinusitis . evaluate sinuses that are filled with fluid or thickened sinus membranes . detect the presence of ... other in a ring, called a gantry. The computer workstation that processes the imaging information is located ...

  15. Computed Tomography (CT) -- Sinuses

    Medline Plus

    Full Text Available ... equipment to evaluate the paranasal sinus cavities – hollow, air-filled spaces within the bones of the face ... paranasal sinus cavities. The paranasal sinuses are hollow, air-filled spaces located within the bones of the ...

  16. Computed Tomography (CT) -- Sinuses

    Medline Plus

    Full Text Available ... the Sinuses? What is CT (Computed Tomography) of the Sinuses? Computed tomography, more commonly known as a ... of page What are some common uses of the procedure? CT of the sinuses is primarily used ...

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

    Directory of Open Access Journals (Sweden)

    Steven S. Saraf

    2015-01-01

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

  18. Congenital nephrotic syndrome, an uncommon presentation of cytomegalovirus infection.

    Science.gov (United States)

    Rahman, H; Begum, A; Jahan, S; Muinuddin, G; Hossain, M M

    2008-07-01

    Cytomegalovirus (CMV) infection is a very rare infection in children as well as in infancy. In CMV infection extra renal manifestations in central nervous system (CNS), eyes and hematological are prominent and common than renal manifestation. We are describing two case reports one at the age of 5 months and another at one month with features of both extra renal and renal manifestations of nephritic syndrome. Our first case presented with predominant features of CNS manifestations like convulsion and spastic monoplegia, sensory type of deafness and absence of light reflexes along with nephritic features. Deafness and absence of light reflex were confirmed by audiometric and ophthalmological examination and brain atrophy was confirmed by CT scan. Our second case had features of hypothyroidism along with nephritic features. Hypothyroid status was confirmed by elevated serum TSH level and reduced T4 level. In both cases nephritic features were confirmed at bed site urine examination by heat coagulation test and other relevant investigations. CMV infection was confirmed in both cases by detecting anti CMV IgM by ELISA method. Both patients were clinically improved with intravenous gangcyclovir therapy. In these two cases reports, clinical, serological and therapeutic observation established the causal relationship between the CMV infection and nephrotic syndrome.

  19. Systemic capillary leak syndrome presenting as recurrent shock.

    Science.gov (United States)

    Karatzios, Christos; Gauvin, France; Egerszegi, E Patricia; Tapiero, Bruce; Buteau, Chantal; Rivard, Georges Etienne; Ovetchkine, Philippe

    2006-07-01

    To report a case of systemic capillary leak syndrome (SCLS) in a child. Case report. Pediatric intensive care unit. A 6-yr-old girl was admitted twice to the pediatric intensive care unit, at a 10-month interval, in severe shock with important edema. The patient presented with acute symptoms of abdominal pain, vomiting, and syncope in the hour preceding the shock. During both episodes necessary management included aggressive intravenous fluid rehydration, mechanical ventilation, and use of inotropes/vasopressors. Suspicion of a lower limb fasciitis necessitated surgical exploration, but pathology reports were negative on both occasions revealing only subcutaneous tissue edema. The patient recovered within 24 hrs on both episodes. Investigation ruled out cardiogenic shock and septic shock due to bacterial etiology. On the first episode, a nasopharyngeal aspirate was positive for influenza A (H3N2) by both viral immunofluorescence and culture. The presumed diagnosis was toxic shock syndrome associated with influenza virus. On the second episode, all bacterial and virology cultures remained negative. Hypovolemic shock was suspected, but there was no history of dehydration, bleeding, or gastrointestinal losses (persistent vomiting or diarrhea). Noninfectious causes of hypovolemic shock with edema were ruled out, leading us to believe that she suffered from SCLS. Although well described in the adult literature, there have been few reports of SCLS in pediatric patients. SCLS should be considered in the differential diagnosis of recurrent hypovolemic shock without identifiable cause. The only therapeutic intervention is to obtain vascular access when initial manifestations occur and give aggressive fluid reanimation.

  20. [Bouveret's syndrome: A rare presentation of gallstone ileus].

    Science.gov (United States)

    Franco-Avilés, Luis; Arce-Guridi, Héctor Tonalli; Mercado, Ulises

    2016-01-01

    Bouveret's syndrome is defined as gastric outlet obstruction caused by duodenal impaction of a gallstone which passes into the duodenal bulb through a cholecystoduodenal fistula. We reported the case of a 46-year-old woman who presented intermittent epigastric pain, nausea, vomiting, and weight loss of 2-months duration. The patient admitted alcohol and methamphetamine abuse. She had not fever, dehydration or jaundice. Amylase, electrolytes, enzymes, and creatinine level were within normal limits. Seven months previously she was seen in the emergency department for acute cholecystitis. In that occasion, an abdominal ultrasound was reported with cholelithiasis without dilatation of the intra/extra-hepatic bile duct. Abdominal plain radiographs showed no relevant findings. A laparoscopic surgery was performed. During the procedure a sub-hepatic plastron with firm adhesions was found. The gallbladder was found attached to the duodenal bulb and an impacted calculus in the duodenum. The procedure was converted to surgery. Surgeon decided to perform a Bilroth 1 as the best choice. Seven days later, she was discharged. The clinical manifestations of the Bouveret's syndrome are nonspecific. Preoperative diagnosis is a challenge for clinicians because of the rarity of this condition. Treatment must be individualized.

  1. Visceral myopathy presenting as acute appendicitis and ogilvie syndrome.

    Science.gov (United States)

    Kharbuja, Punyaram; Thakur, Raghvendra; Suo, Jian

    2013-01-01

    Background. Visceral myopathy is rare pathological condition of gastrointestinal tract with uncertain clinical presentation and unknown etiology. It often presents with symptoms of chronic intestinal pseudoobstruction of colon. We report a case of visceral myopathy which presented to us as acute appendicitis and Ogilvie syndrome, and we managed it surgically. Method and Result. A case report of 20-year female clinically presented as acute appendicitis and we performed laparoscopic exploration which revealed inflamed appendix with grossly dilated ascending colon. We performed laparoscopic appendectomy and postoperatively managed the patients with IV fluids, antibiotics, neostigmine, and extended length rectal tube for enema and decompression. During postoperative period, she developed abdomen distension and peritonitis, and we ordered abdomen CT which revealed colon pseudo- obstruction. We performed right hemicolectomy with permanent ileostomy, and the histopathology reports of resected colon were visceral myopathy. Conclusion. Visceral myopathy is very rare group of disease and poorly understood condition that may present with chronic or acute intestinal pseudo-obstruction and often mimic other more common gastrointestinal disease. VM should be considered as differential diagnosis whenever the patient presents with acute appendicitis, uncharacteristic abdominal symptoms, recurrent attacks of abdominal distention, and pain with no radiological evidence of intestinal obstruction.

  2. Comparison of pacing algorithms to avoid unnecessary ventricular pacing in patients with sick sinus node syndrome: a single-centre, observational, parallel study.

    Science.gov (United States)

    Poghosyan, Hermine R; Jamalyan, Smbat V

    2012-10-01

    Reduction of unnecessary ventricular pacing (uVP) is an essential component in the treatment strategy in any pacing population in general. The aim of this study was to evaluate the efficacy of different algorithms to reduce uVP in an adult population with sick sinus syndrome (SSS) treated outside of clinical trials. Evaluation of the relationship between different types of pacing algorithms and clinical outcomes is also provided. This was a single-centre, observational, parallel study, based on retrospective analysis of the Arrhythmology Cardiology Center of Armenia electronic clinical database. This study evaluated atrial pacing percentage (AP%), ventricular pacing percentage (VP%), and the incidence of atrial high rate episodes in 56 patients with SSS using three different pacing strategies: managed VP, search atrioventricular (AV), and fixed long AV. We did not find statistically significant differences in the amount of VP between the groups. Although the atrial high rate percentage (AHR%) tended to be higher in the fixed long AV group, this difference was not statistically significant. Mean VP% and AP% were similar in all three groups. In our study, all three programmed strategies produced the same mean AP% and VP%, and were equally efficient in uVP reduction. There was no relationship between chosen algorithms and the incidence of pacemaker syndrome, hospitalizations, or change in New York Heart Association class. The percentage of AHR was not associated with pacing strategy or co-morbidities but showed borderline correlation with left atrial size.

  3. Selective inferior petrosal sinus sampling without venous outflow diversion in the detection of a pituitary adenoma in Cushing's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Andereggen, Lukas [Bern University Hospital, University Institute of Diagnostic and Interventional Neuroradiology, Bern (Switzerland); Bern University Hospital, Department of Neurosurgery, Bern (Switzerland); Schroth, Gerhard; Gralla, Jan; Ozdoba, Christoph [Bern University Hospital, University Institute of Diagnostic and Interventional Neuroradiology, Bern (Switzerland); Seiler, Rolf; Mariani, Luigi; Beck, Juergen; Widmer, Hans-Rudolf; Andres, Robert H. [Bern University Hospital, Department of Neurosurgery, Bern (Switzerland); Christ, Emanuel [Bern University Hospital, Division of Endocrinology, Diabetology and Clinical Nutrition, Bern (Switzerland)

    2012-05-15

    Conventional MRI may still be an inaccurate method for the non-invasive detection of a microadenoma in adrenocorticotropin (ACTH)-dependent Cushing's syndrome (CS). Bilateral inferior petrosal sinus sampling (BIPSS) with ovine corticotropin-releasing hormone (oCRH) stimulation is an invasive, but accurate, intervention in the diagnostic armamentarium surrounding CS. Until now, there is a continuous controversial debate regarding lateralization data in detecting a microadenoma. Using BIPSS, we evaluated whether a highly selective placement of microcatheters without diversion of venous outflow might improve detection of pituitary microadenoma. We performed BIPSS in 23 patients that met clinical and biochemical criteria of CS and with equivocal MRI findings. For BIPSS, the femoral veins were catheterized bilaterally with a 6-F catheter and the inferior petrosal sinus bilaterally with a 2.7-F microcatheter. A third catheter was placed in the right femoral vein. Blood samples were collected from each catheter to determine ACTH blood concentration before and after oCRH stimulation. In 21 patients, a central-to-peripheral ACTH gradient was found and the affected side determined. In 18 of 20 patients where transsphenoidal partial hypophysectomy was performed based on BIPSS findings, microadenoma was histologically confirmed. BIPSS had a sensitivity of 94% and a specificity of 67% after oCRH stimulation in detecting a microadenoma. Correct localization of the adenoma was achieved in all Cushing's disease patients. BIPSS remains the gold standard in the detection of a microadenoma in CS. Our findings show that the selective placement of microcatheters without venous outflow diversion might further enhance better recognition to localize the pituitary tumor. (orig.)

  4. THE POLYMORPHISM OF Α2B-ADRENERGIC RECEPTOR GENE — A NEW GENETIC MARKER OF THE HEREDITARY SICK SINUS SYNDROME

    Directory of Open Access Journals (Sweden)

    S. Iu. Nikulina

    2010-01-01

    Full Text Available Aim. To study the association of the hereditary sick sinus syndrome (SSS with gene α2B-adrenergic receptor (ADRA2B polymorphism.Material and methods. 29 families with hereditary primary SSS from the database of the Chair of Therapy № 1 of Krasnoyarsk State Medical University named after prof. V.F. Voyno-Yasenetsky were included in the study. Group 1 included probands (20 women and 9 men, 58±0.15 y.o., group 2 – proband relatives of I, II and III degree (65 males and 68 females, 39±0.13 y.o., group 3 (control — 89 healthy volunteers. Clinical examination (physical examination, ECG, bicycle ergometry, ECG monitoring, atropine test, electrophysiological study, echocardiography was performed in all probands and their relatives. The diagnosis of SSS was confirmed by transesophageal left atrium stimulation in 75 individuals. Genotypic examination of gene ADRA2B I/D polymorphism was performed in 213 individuals: 75 SSS-patients, 49 their healthy relatives, 89 healthy volunteers.Results. 3 types of ADRA2B genotypes (II — homozygous wild, ID — heterozygous, DD — homozygous mutant were founded by allele-specific polymerase chain reaction. Significant prevalence of the homozygous genotype of more rare alleles DD in SSS-patients (28±5.2% compared to the control group (8.99±3.0% was found.Conclusion. Study of the genetic marker can be used to identify predisposition to hereditary SSS in the population and individual-family level. SSS due to mutations in genes that regulate cell function of sinus node and the sinoatrial conduct occurs, apparently, extremely rarely.

  5. Aggressiv fibromatose i sinus frontalis

    DEFF Research Database (Denmark)

    Godballe, Christian; Jensen, Søren Gade; Krogdahl, Annelise

    2009-01-01

    Aggressive fibromatosis (AF) is a benign tumour with expansive and locally invasive growth. It is very rarely seen in the head and neck area. We present a 52-year-old female patient with AF localized to the left frontal sinus. The condition was initially mistaken for chronic sinusitis however...... computed tomography indicated tumour. A biopsy showed AF and the patient received surgical treatment. Symptoms, signs and treatment are discussed. It is concluded that AF in the sino-nasal tract is a rare, but potentially life threatening condition which might be mistaken for a simple sinusitis...

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

    Directory of Open Access Journals (Sweden)

    Qurratul Warsi

    2017-03-01

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

  7. Primary antiphospholipid antibody syndrome presenting with encephalopathy, psychosis and seizures.

    Science.gov (United States)

    Taipa, R; Santos, E

    2011-11-01

    Antiphospholipid syndrome (APS) is an autoimmune disease characterized by recurrent thrombotic events, miscarriages and thrombocytopenia with persistently positive antiphospholipid antibodies.( 1,2 ) APS may be isolated (primary APS) or associated to a connective tissue disease, most often systemic lupus erythematosus (SLE).( 1,2 ) APS usually affects young patients before the fifth decade( 3 ) with stroke being the commonest neurological manifestation.( 4 ) Various other neurological manifestations are being recognized in patients with APS including migraine, epilepsy, multi-infarct dementia and chorea.( 2 ) The pathological process underlying the neurological manifestations remains obscure.( 1,2 ) Herein we report a case of primary APS presenting with a group of unusual neurological manifestations in a 68-year-old woman.

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

    Directory of Open Access Journals (Sweden)

    Ordean A

    2014-04-01

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

  9. A rare presentation of Klippel-Trenaunay syndrome

    Directory of Open Access Journals (Sweden)

    Tanweer Karim

    2014-01-01

    Full Text Available The Klippel-Trenaunay syndrome (KTS is a congenital disorder characterized by capillary malformation, varicosities and bony and soft tissue hypertrophy. This disease has several morbidities like bleeding, deep venous thrombosis, embolic complications and in some cases enlargement of limb that may require amputation. Vascular malformations are segmented and never cross midline. However, we came across a case, a 45-year-old male, who presented with varicosity of veins and deformity of left lower limb besides cavernous hemangiomas (port-wine stains scattered all over his face, chest, back, gluteal region, groin and legs since birth. Multiple paravertebral soft tissue masses and bladder hypertrophy were also noted due to involving neurofibromatosis. Simultaneous occurrence of KTS and neurofibromatosis is rarely seen in clinical practice.

  10. Sarcoidosis Presenting as Löfgren’s Syndrome with Myopathy

    Directory of Open Access Journals (Sweden)

    Şenol Kobak

    2013-01-01

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

  11. [Destructive mastoiditis with thrombosis of the sigmoid sinus in a 8 year-old child presenting with concomitant chicken pox].

    Science.gov (United States)

    Bogomil'skiĭ, M R; Polunin, M M; Ivanenko, A M; Poliakov, A A

    2014-01-01

    The specific clinical feature of mastoidities that developed in a patient presenting with chicken pox was the rapid progress in temporal bone destruction with partial thrombosis of the sigmoid sinusis in the absence of typical manifestations of mastoiditis. The pronounced destructive changes found in a series of CT images were regarded as the indications for urgent antromastoidotomy with the puncture of the sigmoid sinusis.

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

    Directory of Open Access Journals (Sweden)

    Néstor Pacenza

    2012-01-01

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

  13. Herpes Zoster Myelitis Presented with Brown-Sequard Syndrome

    Directory of Open Access Journals (Sweden)

    Ferah Kızılay

    2011-12-01

    Full Text Available Brown Séquard syndrome, is caused by a lesion effecting one half of the spinal cord in a segment or more than one segments. Below the lesion level, there is loss of deep sensory and motor functions on the ipsilateral side, whereas loss of pain and temparature sensations are present on the contralateral side. Most common causes are trauma, radiation necrosis and spinal metastases. Here, we aimed to present a case of herpes Zoster virus myelitis, that was presented as Brown Séquard sydrome, which is very rare. A 55-year-old male was presented with acute paresia of the right arm and leg. Three days after the start of these complaints, painful, itchy and vesicular blisters appeared on the extensor surface of the right arm. On neurological examination, there were 4+/5 paresis on the right arm and leg, loss of proprioception on the right upper and lower extremities, and loss of temparature sensation on the left upper and lower extremities. Servical MRI showed an expansile hyperintense lesion which was located on C5-C6 level within spinal cord, on T2-weighted images. Lesion diameter was 3 centimeters. Skin lesions showed regression within 15 days, whereas motor deficits remained stable. After 4 months, MRI showed marked regression of the spinal cord lesion. We aimed to share the findings of this HZV myelitis case, which is very rare and its MRI findings may easily misinterpreted as a spinal mass lesion

  14. 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...

  15. Severe chronic bronchiolitis as the presenting feature of primary Sjögren's syndrome.

    Science.gov (United States)

    Borie, Raphael; Schneider, Sophie; Debray, Marie-Pierre; Adle-Biasssette, Homa; Danel, Claire; Bergeron, Anne; Mariette, Xavier; Aubier, Michel; Papo, Thomas; Crestani, Bruno

    2011-01-01

    Sjögren's syndrome is a frequent auto-immune disorder with a pulmonary location in almost 10% of the patients. Although bronchial involvement is very common, most patients only complain of cough and this involvement rarely results in severe symptoms or chronic respiratory failure are rarely observed. We describe here 5 patients with severe chronic bronchiolitis revealing primary Sjögren's syndrome. The lung involvement resulted in chronic bronchorrhea, recurrent sinusitis, diffuse bronchiolar nodules with bronchiectasis on the CT scan, and a severe obstructive airway pattern on lung function tests. Improvement was obtained in 4 patients with combination of inhaled corticosteroids, inhaled long acting beta-agonists, and a low dose of erythromycin. Copyright © 2010 Elsevier Ltd. All rights reserved.

  16. Clinical and 22-item Sino-Nasal Outcome Test symptom patterns in primary headache disorder patients presenting to otolaryngologists with "sinus" headaches, pain or pressure.

    Science.gov (United States)

    Lal, Devyani; Rounds, Alexis B; Rank, Matthew A; Divekar, Rohit

    2015-05-01

    The objective of this work was to study patient and 22-item Sino-Nasal Outcome Test (SNOT-22) characteristics in primary headache disorders (PHDs). Retrospective chart review of "sinus" headache/pressure/pain patients was conducted. Patients that had rhinosinusitis excluded (negative endoscopy/computed tomography [CT]), and neurologist-confirmed PHD were studied. Patterns in symptom and SNOT-22 items were analyzed by network visualization and cluster analysis. Forty-six patients met study criteria. Forty-three (93.5%) reported "need to blow nose" and 40 (86.9%) reported postnasal drainage. Sneezing was reported by 37 (80.4%) patients, "blockage/congestion of nose" by 33 (71.8%), and "runny nose by 32 (69.6%) patients. The median SNOT-22 score was 54 (interquartile range [IQR], 40 to 63). Past history included neurological diagnoses (60%), rhinologic disease (39%; chronic rhinosinusitis [CRS], rhinitis, recurrent acute sinusitis), asthma (28%), and allergen-sensitivity (26%). Previous sinonasal surgery had been performed in 41%. Network layout and cluster analysis identified 2 patient clusters and 2 symptom clusters. Two-thirds (31) of patients formed a tight cluster (cluster 1) linking to a symptom cluster of psychosocial items wrapped tightly with "facial pain/pressure." The remaining one-third of patients (cluster 2) linked to rhinologic symptoms loosely grouped away from "facial pressure/pain." In contrast to patients in cluster 2, patients in cluster 1 were predominantly female (p < 0.04), had significantly higher (p < 0.0001) median SNOT-22 scores (60 vs 34; IQR, 53 to 67 vs 17 to 42), were more likely to have migraine history (p = 0.058), and reported being "sad" (p < 0.0001) or "embarrassed" (p < 0.006). Prominent rhinologic symptoms can be present in PHD patients in the absence of rhinosinusitis. In particular, high symptom-burden/SNOT-22 scores and high psychosocial symptoms should raise suspicion of PHD when endoscopy and/or CT results do not correlate

  17. Advanced Prostate Cancer Presenting as Hemolytic Uremic Syndrome

    Directory of Open Access Journals (Sweden)

    R. Ramos

    2013-01-01

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

  18. Concomitant presentation of carpal tunnel syndrome and trigger finger

    Directory of Open Access Journals (Sweden)

    Wollstein Ronit A

    2009-08-01

    Full Text Available Abstract Background Carpal tunnel syndrome (CTS and trigger finger (TF are common conditions that may occur in the same patient. The etiology of most cases is unknown. The purpose of this study was to evaluate the rate of concomitant occurrence of these two conditions at presentation and to compare the concomitant occurrence in normal and diabetic patients. Methods One-hundred and eight consecutive subjects presenting to our hand clinic with CTS and/or TF were evaluated. The existence of both of these conditions was documented through a standard history and physical examination. The definition of trigger finger was determined by tenderness over the A1 pulley, catching, clicking or locking. CTS was defined in the presence of at least two of the following: numbness and tingling in a median nerve distribution, motor and sensory nerve loss (median nerve, a positive Tinel's or Phalen's test and positive electrophysiologic studies. Results The average age of the participants was 62.2 ± 13.6 years. Sixty-seven patients presented with symptoms and signs of CTS (62%, 41 (38% subjects with signs and symptoms of TF. Following further evaluation, 66 patients (61% had evidence of concomitant CTS and TF. Fifty-seven patients (53% of all study patients had diabetes. The rate of subjects with diabetes was similar among the groups (p = 0.8, Chi-square test. Conclusion CTS and TF commonly occur together at presentation though the symptoms of one condition will be more prominent. Our results support a common local mechanism that may be unrelated to the presence of diabetes. We recommend evaluation for both conditions at the time of presentation.

  19. A Neonate with Susceptibility to Long QT Syndrome Type 6 who Presented with Ventricular Fibrillation and Sudden Unexpected Infant Death

    Science.gov (United States)

    Sauer, Charles W.; Marc-Aurele, Krishelle L.

    2016-01-01

    Patient: Female, 19-day Final Diagnosis: 19 day old neonate with susceptibility to Long QT syndrome • ventricular fibrillation Symptoms: Cardiac arrest • cardiac arrhythmia • encephalopathy Medication: — Clinical Procedure: Cardioversion Specialty: Pediatrics and Neonatology Objective: Rare disease Background: This is a case of a neonate with susceptibility to long QT syndrome (LQTS) who presented with a sudden unexpected infant death. Experts continue to debate whether universal electrocardiogram (ECG) screening of all newborns is feasible, practical, and cost-effective. Case Report: A 19-day-old neonate was found unresponsive by her mother. ECG showed ventricular fibrillation and a combination of a lidocaine drip plus multiple defibrillations converted the rhythm to normal sinus. Unfortunately, MRI brain imaging showed multiple infarcts and EEG showed burst suppression pattern with frequent seizures; life supportive treatment was stopped and the infant died. Genetic testing revealed two mutations in the KCNE2 gene consistent with susceptibility to LQTS type 6. Conclusions: We believe this case is the first to demonstrate both a precipitating electrocardiographic and genetic cause of death for an infant with LQTS, showing a cause-and-effect relationship between LQTS mutation, ventricular arrhythmia, and death. We wonder whether universal ECG newborn screening to prevent LQTS death could have saved this baby. PMID:27465075

  20. [Osteomas of the paranasal sinuses].

    Science.gov (United States)

    Gay Escoda, C; Bescos Atín, M S

    1990-12-01

    A group of 86 patients with osteomas on the bones of the skull and face, 21 suffered from osteomas of the paranasal sinuses. The mean age of the patients was 50 years, with a predominance of male subjects (2/1). The frontal sinus was the frequently involved (57%), followed by the maxillary, ethmoid and the sphenoid sinuses. Diagnosis was made accidentally in 45% of the cases. The most frequent presenting symptom was headache (57%). Simple excision of the osteoma paranasal sinus was possible in 18 cases. We realize a study of the facts, as well as a review of the literature to know the incidence, diagnosis, indications and surgery technics used in these type of osteomas.

  1. Delayed presentation of turner syndrome: Challenge to optimal management

    Directory of Open Access Journals (Sweden)

    Uma Kaimal Saikia

    2017-01-01

    Full Text Available Background: Turner syndrome (TS is a chromosomal disorder associated with dysmorphic features and comorbidities, with recent trends focusing on early diagnosis for adequate management. Aim: The aim is to study the age and mode of presentation of TS, associated comorbidities and look for any correlation with the genotype. Material and Methods: This was a retrospective analysis of girls with TS attending the endocrinology clinic of a tertiary care center. Their age, mode of presentation, and clinical features were noted. All participants underwent ear examination, echocardiography, and ultrasonography of the abdomen. Laboratory investigations included serum T4, thyroid-stimulating hormone, thyroid peroxidase antibodies, follicle-stimulating hormone, fasting, and 2-h plasma glucose after 75 g glucose load and a karyotype. Simple descriptive statistical methods were used. Results: Seventeen cases of TS were seen with a median age of presentation of 18 years (range 14–42 years. Primary amenorrhea was the most common reason for seeking medical attention (76.4% followed by short stature and diabetes mellitus (11.8% each. The mean height at presentation was 137.5 ± 5.4 cm. Monosomy of X chromosome (45,X was the most common karyotype obtained in 58.8% of the patients, followed by 45,X/46, XX in 17.6%, 45,X/46X,i(X(q10 in 11.8%, and 45,X/47,XXX and 46X,delXp11.2 in 5.9% patients each. Bicuspid aortic valve was seen in two patients having a 45,X/46,XX karyotype. Conclusion: Primary amenorrhea is the most common presenting feature in girls with TS leading to a delayed age of presentation. Short stature and dysmorphic features are often overlooked in infancy and childhood due to socioeconomic factors. This late age of presentation is a cause of concern as early detection and management is important for height outcomes, bone health, and psychosocial support. Assessment of comorbidities becomes important in this setting.

  2. Sjogrens Syndrome Presenting with Central Nervous System Involvement

    Directory of Open Access Journals (Sweden)

    Tülay Terzi

    2012-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Egemen Cebeci

    2015-01-01

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

  4. 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

  5. Short-term heart rate variability in dogs with sick sinus syndrome or chronic mitral valve disease as compared to healthy controls.

    Science.gov (United States)

    Bogucki, Sz; Noszczyk-Nowak, A

    2017-03-28

    Heart rate variability is an established risk factor for mortality in both healthy dogs and animals with heart failure. The aim of this study was to compare short-term heart rate variability (ST-HRV) parameters from 60-min electrocardiograms in dogs with sick sinus syndrome (SSS, n=20) or chronic mitral valve disease (CMVD, n=20) and healthy controls (n=50), and to verify the clinical application of ST-HRV analysis. The study groups differed significantly in terms of both time - and frequency- domain ST-HRV parameters. In the case of dogs with SSS and healthy controls, particularly evident differences pertained to HRV parameters linked directly to the variability of R-R intervals. Lower values of standard deviation of all R-R intervals (SDNN), standard deviation of the averaged R-R intervals for all 5-min segments (SDANN), mean of the standard deviations of all R-R intervals for all 5-min segments (SDNNI) and percentage of successive R-R intervals >50 ms (pNN50) corresponded to a decrease in parasympathetic regulation of heart rate in dogs with CMVD. These findings imply that ST-HRV may be useful for the identification of dogs with SSS and for detection of dysautonomia in animals with CMVD.

  6. Self-controllable prodromal symptoms of syncope attributed to carotid sinus syndrome during the end stage of cancer: a case report.

    Science.gov (United States)

    Hasuo, Hideaki; Kanbara, Kenji; Sakuma, Hiroko; Matsumori, Rie; Fukunaga, Mikihiko

    2016-01-01

    Carotid sinus syndrome (CSS) can cause prodromal symptoms of syncope such as dizziness and nausea. Patients with end-stage cancer lose self-efficacy associated with reduced activities of daily life (ADL). Herein, we report a case of end-stage cancer in which self-efficacy was enhanced as the patient gained self-control of prodromal symptoms of syncope. A 70-year-old patient with end-stage esophageal cancer and enlarged supraclavicular lymph nodes developed CSS. The CSS was a mixed type with both bradycardia and decreased blood pressure, accompanied by prodromal symptoms prior to syncope episodes. The patient incidentally discovered that he could decrease the duration of symptoms by contracting the muscles in his hands and legs. By applying this coping method at the onset of prodromal symptoms, he was also able to reduce the severity and duration of symptoms, which resulted in enhanced self-efficacy. As a result, the frequency of prodromal symptoms also decreased even though ADL improved. This patient was diagnosed with vasoinhibitory-predominant mixed-type CSS. The coping method the patient developed seemed to avoid the onset of abrupt blood pressure decrease via peripheral vascular constriction action. Achievement of adequate coping such as self-control of prodromal symptoms enabled our patient to improve his self-efficacy even at the end stages of cancer. This case of enhanced self-efficacy could possibly illustrate a placebo effect for prevention of recurrence.

  7. Severe bleeding after sinus floor elevation using the transcrestal technique

    DEFF Research Database (Denmark)

    Jensen, Simon Storgard; Eriksen, Jacob; Schiodt, Morten

    2012-01-01

    To present a rare but clinically significant complication to sinus floor elevation (SFE) using the transcrestal technique.......To present a rare but clinically significant complication to sinus floor elevation (SFE) using the transcrestal technique....

  8. Presentation and survival of prehospital apparent sudden infant death syndrome.

    Science.gov (United States)

    Smith, Matthew P; Kaji, Amy; Young, Kelly D; Gausche-Hill, Marianne

    2005-01-01

    Prehospital providers are often involved in the resuscitation of apparent sudden infant death syndrome (SIDS) victims; however, data are few on the presentation and outcome of these patients. To describe the presentation and determine the survival rate of infants who have an unwitnessed, prehospital arrest consistent with SIDS (apparent SIDS), and to compare the presentation of infants with a final diagnosis of SIDS with those who presented as apparent SIDS but had a different final diagnosis. This was a secondary analysis of data from a controlled trial whose methodology has been previously described. The setting was two large, urban emergency medical services (EMS) systems of Los Angeles and Orange Counties, California. The population included 113 apparent SIDS victims from the original interventional study who had a prehospital, unwitnessed arrest consistent with SIDS, defined by the scenario of an infant aged =12 months being placed to sleep and later found in full arrest (pulseless and apneic). Data collected included ethnicity, gender, arrest etiology, signs of death (lividity, rigor mortis), prehospital interventions, return of spontaneous circulation (ROSC), arrest rhythm, code 3 transport (lights and sirens), and survival to hospital discharge. One hundred ten of 113 apparent SIDS patients had survival data; 0 of 110 (95% CI 0% to 3.3%) survived, although ROSC was achieved in 5%; for three patients data on survival were missing. Arrest rhythms were determined in 94% of the subjects: asystole 87%, pulseless electrical activity (PEA) 8%, and ventricular fibrillation 4%. Only 50 of 113 (44%) of the EMS records documented code 3 transport; the remainder of the records were ambiguous. SIDS was the final coroner's diagnosis for 79 of 113 (70%) of the cases. Other causes of death in these apparent SIDS victims included respiratory causes (12%), asphyxiation (3%), abuse (2%), congenital heart disease (2%), sepsis (2%), other (4%), and unknown (5%). Apparent SIDS

  9. Clinical presentation and management of arterial thoracic outlet syndrome.

    Science.gov (United States)

    Vemuri, Chandu; McLaughlin, Lauren N; Abuirqeba, Ahmmad A; Thompson, Robert W

    2017-05-01

    Arterial thoracic outlet syndrome (TOS) is a rare condition characterized by subclavian artery pathology associated with a bony abnormality. This study assessed contemporary clinical management of arterial TOS at a high-volume referral center. A prospectively maintained database was used to conduct a retrospective review of patients undergoing primary or reoperative treatment for arterial TOS during an 8-year period (2008 to 2016). Presenting characteristics, operative findings, and clinical and functional outcomes were evaluated. Forty patients underwent surgical treatment for arterial TOS, representing 3% of 1401 patients undergoing operations for all forms of TOS during the same interval. Patients were a mean age of 40.3 ± 2.2 years (range, 13-68 years), and 72% were women. More than half presented with upper extremity ischemia/emboli (n = 21) or posterior stroke (n = 2), including eight that had required urgent brachial artery thromboembolectomy. The presentation in 17 (42%) was nonvascular, with 11 having symptoms of neurogenic TOS and six having an asymptomatic neck mass or incidentally discovered subclavian artery dilatation. All patients underwent thoracic outlet decompression (25 supraclavicular, 15 paraclavicular), of which there were 30 (75%) with a cervical rib (24 complete, 6 partial), 5 with a first rib abnormality, 4 with a clavicle fracture, and 1 (reoperation) with no remaining bone abnormality. Subclavian artery reconstruction was performed in 70% (26 bypass grafts, 1 patch, 1 suture repair), and 30% had mild subclavian artery dilatation (<100%) requiring no arterial reconstruction. Mean postoperative length of stay was 5.4 ± 0.6 days. During a mean follow-up of 4.5 ± 0.4 years (range, 0.9-8.1 years), subclavian artery patency was 92%, none had further dilatation or embolism, and chronic symptoms were present in six (4 postischemic/vasospasm, 2 neurogenic). Functional outcomes measured by scores on the 11-item version of the

  10. Down syndrome and moyamoya: clinical presentation and surgical management.

    Science.gov (United States)

    See, Alfred P; Ropper, Alexander E; Underberg, Daniel L; Robertson, Richard L; Scott, R Michael; Smith, Edward R

    2015-07-01

    OBJECT Moyamoya can cause cerebral ischemia and stroke in Down syndrome (DS) patients. In this study, the authors defined a surgically treated population of patients with DS and moyamoya and compared their clinical presentation, response to surgical treatment, and long-term prognosis with those of the general population of patients with moyamoya but without DS. METHODS This study was a retrospective review of a consecutive operative series of moyamoya patients with DS treated at Boston Children's Hospital from 1985 through 2012. RESULTS Thirty-two patients, average age 9.7 years (range 1.8-29.3 years), underwent surgery for moyamoya in association with DS. The majority presented with ischemic symptoms (87% stroke, 42% transient ischemic attacks). Twenty-four patients (75%) had congenital heart disease. Nineteen patients (59%) had bilateral moyamoya on presentation, and 13 presented with unilateral disease, of which 2 progressed to surgery on the opposite side at a later date. Patients were followed for a median of 7.5 years (1-20.2 years) after surgery, with no patients lost to follow-up. Follow-up arteriography demonstrated Matsushima Grade A collaterals in 29 of 39 (74%) hemispheres, Grade B in 5 (13%), and Grade C in 5 (13%). Complications included postoperative strokes in 2 patients, which occurred within 48 hours of surgery in both; one of these patients had arm weakness and the other confusion (both had recovered completely at follow-up). Seizures occurred in 5 patients perioperatively, including one who had a new seizure disorder related to hypocalcemia. CONCLUSIONS Moyamoya disease is a cause of stroke in patients with DS. Both the incidence of preoperative stroke (87% vs 67%) and the average age at diagnosis for children under age 21 (8.4 vs 6.5 years) were greater in patients with DS and moyamoya than in the general moyamoya surgical population, suggesting a possible delay in reaching a correct diagnosis of the cause of cerebral ischemia in the DS patient

  11. Maxillary sinus anatomic and pathologic CT findings in edentulous patients scheduled for sinus augmentation.

    Science.gov (United States)

    Drăgan, Eliza; Rusa, Oana; Nemţoi, A; Melian, G; Mihai, C; Haba, Danisia

    2014-01-01

    An aberrant sinus anatomy or pathology can influence the sinus lift technique if it is encountered during surgical exposure. The purpose of the present study was to determine the prevalence of sinus disease and variations of normal anatomy among edentulous patients prior to sinus augmentation. 120 patients attending a private surgical practice (53 women and 67 men, with a mean age of 62.02 years, ranging between 34 and 81 years old) for whom treatment was planned for sinus augmentation were evaluated--medical history, radiographic and clinical examinations. Computerized tomograms (CT) and 3D reconstructions from 240 sinuses were analyzed using Dental CT. Abnormalities were diagnosed in 74.2% of cases. Mucosal thickening was the most prevalent abnormality (68.3%), followed by retention cysts (15.8%) and opacification (9.2%). The diagnosed conditions included mucosal thickening, chronic sinusitis, sinus cysts and polyps. The prevalence of one or more septa per sinus was found to be 30%. Males present pathology more often than females (p=.028). No statistical correlation could be found between age and pathology (p>0.05) No significant differences in age or gender between patients with and without sinus septum were found (p>0.05). The results reinforce the importance of thorough history taking and clinical and radiographic assessment prior to performing sinus augmentation, to prevent the probability of complications.

  12. Juvenile polyposis syndrome presenting as intussusception in a ...

    African Journals Online (AJOL)

    We report a rare case of juvenile polyposis syndrome (JPS) in a 5 year old girl who was admitted into the emergency room on account of acute intestinal obstruction secondary to ileo-colic intussusception. Prior to the admission, she has had repeated blood transfusion in the referring hospital following anaemia due to long ...

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

    African Journals Online (AJOL)

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

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

    African Journals Online (AJOL)

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

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

    African Journals Online (AJOL)

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

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

    African Journals Online (AJOL)

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

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

    African Journals Online (AJOL)

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

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

    African Journals Online (AJOL)

    Burhan M. Edrees

    health status of the patients.1 This syndrome usually occurs in combination with morphologic dysfunction of the feet and spinal cord malformations. It can be said that CRS is a rare and serious medical condition ... mities within the spinal cord, brain, or nervous supply. A number .... Negative HIV Elisa and nor- mal level of ...

  19. Mitochondrial DNA depletion syndrome presenting with ataxia and ...

    African Journals Online (AJOL)

    Laila Selim

    2012-07-24

    Jul 24, 2012 ... Abstract The mitochondrial DNA depletion syndromes are autosomal recessive disorders character- ized by decreased mitochondrial DNA copy number in affected tissues. Mutations in 2 genes involved in deoxyribonucleotide metabolism, the deoxyguanosine kinase gene and the thymidine kinase 2 gene,.

  20. Presenting Symptoms in Pediatric Restless Legs Syndrome Patients

    NARCIS (Netherlands)

    de Weerd, Al; Arico, Irene; Silvestri, Rosalia

    2013-01-01

    Objective: The diagnosis restless legs syndrome (RLS) in children depends on the history told by the child and his parents. The description of symptoms given by the child him or herself is most important. Additional criteria are, among others, the results of polysomnography (PSG). Description of the

  1. Subclinical nephritic syndrome in children cohabiting with pediatric patients, Presenting acute nephritic syndrome

    OpenAIRE

    Guerrero-Tinoco Gustavo Adolfo; Julio-Barrios Emil

    2012-01-01

    Introduction: subclinical nephritic syndrome is the presence of hematuria, hypocomplementemiaand/or proteinuria without the presence of signs and/or symptoms.Objective: to determine the incidence of subclinical nephritic syndrome in childrenliving with pediatric patients diagnosed with acute nephritic syndrome.Methods: family visit to identify children living together in the two previous months, with pediatric patients hospitalized with acute nephritic syndrome, at Hospital InfantilNapoleon F...

  2. Early presentation of gait impairment in Wolfram Syndrome

    Directory of Open Access Journals (Sweden)

    Pickett Kristen A

    2012-12-01

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

  3. Early presentation of gait impairment in Wolfram Syndrome.

    Science.gov (United States)

    Pickett, Kristen A; Duncan, Ryan P; Hoekel, James; Marshall, Bess; Hershey, Tamara; Earhart, Gammon M

    2012-12-08

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

  4. Primary Sjogren’s Syndrome Presenting as Acute Interstitial Pneumonitis/Hamman-Rich Syndrome

    Directory of Open Access Journals (Sweden)

    Abidullah Khan

    2016-01-01

    Full Text Available A previously well, 45-year-old Pakistani lady was admitted to the medical unit on-call of Khyber Teaching Hospital (KTH Peshawar with a 5-day history of fever, productive cough with copious mucoid sputum, dyspnea, and pleuritic chest pain. She also complained of dry eyes, mouth, and vagina. Her chest X-ray showed diffuse alveolar shadowing and arterial gas analysis confirmed type 1 respiratory failure. Over the next few days, she deteriorated rapidly making an urgent transfer to the medical intensive care unit (MICU necessary, where she was mechanically ventilated. An HRCT followed by bronchoscopic biopsies made a diagnosis of acute interstitial pneumonitis (AIP, formerly known as Hamman-Rich syndrome. She also turned out to be positive for both anti-SS-A/Ro and anti-SS-B/La antibodies along with a positive Schirmer’s test and lower lip biopsy. She received intravenous steroids and supportive care. The patient had a complete recovery after approximately three weeks’ stay in the hospital with lung function returning back to normal. This is most probably the first ever case of primary Sjogren syndrome (pSjS presenting as AIP, recovering completely in less than a month time.

  5. 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.

  6. Status epilepticus as the only presentation of the neonatal Bartter syndrome

    Directory of Open Access Journals (Sweden)

    Soumya Patra

    2012-01-01

    Full Text Available Bartter syndrome is a rare hereditary (autosomal recessive salt-losing tubulopathy characterized by hypokalemia, hypochloremia, metabolic alkalosis, and normal blood pressure with hyperreninemia, The underlying renal abnormality results in excessive urinary losses of sodium, chloride, and potassium. We report a case of a four-month-old infant with neonatal Bartter syndrome, who presented only with status epilepticus. To the best of our present knowledge, there is no reported case of Bartter syndrome who presented with status epilepticus.

  7. Autoimmune Polyglandular Syndrome Type 2: An Unusual Presentation

    Directory of Open Access Journals (Sweden)

    Hamdollah Karamifar

    2010-05-01

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

  8. Chédiak-Higashi syndrome: presentation of seven cases

    OpenAIRE

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

    1998-01-01

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

  9. Computed Tomography (CT) -- Sinuses

    Medline Plus

    Full Text Available ... scan of the face produces images that also show a patient's paranasal sinus cavities. The paranasal sinuses ... such as organs like the heart or liver, shows up in shades of gray, and air appears ...

  10. Computed Tomography (CT) -- Sinuses

    Medline Plus

    Full Text Available ... is painless, noninvasive and accurate. It’s also the most reliable imaging technique for determining if the sinuses ... CT scan of the sinuses, the patient is most commonly positioned lying flat on the back. The ...

  11. Computed Tomography (CT) -- Sinuses

    Medline Plus

    Full Text Available ... are the limitations of CT of the Sinuses? What is CT (Computed Tomography) of the Sinuses? Computed ... nasal cavity by small openings. top of page What are some common uses of the procedure? CT ...

  12. Computed Tomography (CT) -- Sinuses

    Medline Plus

    Full Text Available ... When the image slices are reassembled by computer software, the result is a very detailed multidimensional view ... of the Sinuses? CT is usually the first test ordered when a sinus tumor is suspected. If ...

  13. Computed Tomography (CT) -- Sinuses

    Medline Plus

    Full Text Available ... evaluate the paranasal sinus cavities – hollow, air-filled spaces within the bones of the face surrounding the ... cavities. The paranasal sinuses are hollow, air-filled spaces located within the bones of the face and ...

  14. Osteoblastoma of the ethmoid sinus

    Energy Technology Data Exchange (ETDEWEB)

    Park, Yong-Koo [Kyung Hee University, Department of Pathology, School of Medicine, Seoul (Korea); Kyung Hee University Hospital, Department of Pathology, Seoul (Korea); Kim, Eui Jong [Kyung Hee University, Department of Diagnostic Radiology, School of Medicine, Seoul (Korea); Kim, Sung Wan [Kyung Hee University, Department of Otolaryngology, School of Medicine, Seoul (Korea)

    2007-05-15

    An osteoblastoma is a benign bone tumor that most often occurs in the vertebral column and the long bones of the extremities. Paranasal sinus involvement is very rare. We report an osteoblastoma of the ethmoid sinus in a 13-year-old boy who presented with exophthalmos. CT demonstrated an expansile, lesion of the right ethmoid sinus, which caused the orbital contents to be compressed and deviated to the right. A mixture of ground glass opacity and dense bone was present. The less dense portions of the lesion showed intense enhancement on MRI; a signal void was present on all sequences in the densely sclerotic areas. Curettage was performed. Histologically, the lesion was composed of proliferating osteoblasts along with small trabeculae of woven bone and rich vascular fibrous stroma. The literature concerning occurrence of osteoblastoma in this unusual location is reviewed and discussed. (orig.)

  15. Osteoblastoma of the ethmoid sinus

    International Nuclear Information System (INIS)

    Park, Yong-Koo; Kim, Eui Jong; Kim, Sung Wan

    2007-01-01

    An osteoblastoma is a benign bone tumor that most often occurs in the vertebral column and the long bones of the extremities. Paranasal sinus involvement is very rare. We report an osteoblastoma of the ethmoid sinus in a 13-year-old boy who presented with exophthalmos. CT demonstrated an expansile, lesion of the right ethmoid sinus, which caused the orbital contents to be compressed and deviated to the right. A mixture of ground glass opacity and dense bone was present. The less dense portions of the lesion showed intense enhancement on MRI; a signal void was present on all sequences in the densely sclerotic areas. Curettage was performed. Histologically, the lesion was composed of proliferating osteoblasts along with small trabeculae of woven bone and rich vascular fibrous stroma. The literature concerning occurrence of osteoblastoma in this unusual location is reviewed and discussed. (orig.)

  16. The tissue velocity imaging and strain rate imaging in the assessment of interatrial electromechanical conduction in patients with sick sinus syndrome before and after pacemaker implantation

    Directory of Open Access Journals (Sweden)

    Xiaozhi Zheng

    2011-05-01

    Full Text Available Tissue velocity imaging (TVI and strain rate imaging (SRI were recently introduced to quantify myocardial mechanical activity in patients receiving cardiac resynchronization therapy. To clear whether atrial-demand-based (AAI (R atrial pacing can fully simulate the electromechanical conduction of physiological state and to clarify which one is more appropriate for the assessment of electromechanical activity of the heart between TVI and SRI, 30 normal subjects and 31 patients with sick sinus syndrome (SSS before and after AAI(R pacemaker implantation (PI were investigated in this study. The results showed that the time intervals (ms, P-SRa assessed by SRI (not P-Va assessed by TVI prolonged step by step from the lateral wall of the right atrium (RA, the interatrial septum (IAS and the left atrium (LA in normal subjects(5.01±0.62, 17.05±3.54 and 45.09±12.26, p<0.01. P-Va and P-SRa did not differ at the RA, IAS and LA in patients with SSS before PI (p>0.05, and they were significant longer than those of normal subjects (p<0.01. However, they shortened to normal levels in patients with SSS after PI and P-SRa showed again the trend of gradually prolonging from the RA, IAS to LA. At the same time, the peak velocities and the peak strain rates during atrial contraction also returned to normal values from lower levels. These data suggested that AAI(R atrial pacing can successfully reverse the abnormal interatrial electromechanical conduction in patients with SSS, and SRI is more appropriate for the assessment of the electromechanical activity of atrial wall than TVI.

  17. A Rare Presentation of the Klinefelter’s Syndrome

    OpenAIRE

    Hezarkhani, Sharabeh; Moujerloo, Mohammad; Sedighi, Sima; Taheri, Negar Sadat

    2012-01-01

    A 16 years old boy with Chronic Renal Failure (CRF) was not suspected of having Klinefelter’s syndrome until he complained of painful gynecomastia. He was under haemodialysis for 2 years. At first, he was in an approximately full pubertal development (P5, G5), but he had a small and a firm testis (length 2.2cm) and some degree of facial male pattern hair. He also had a decreased upper to lower body segment ratio and despite having chronic renal failure, he was taller than his parents and sibl...

  18. Maxillary sinus agenesis - report of two cases

    International Nuclear Information System (INIS)

    Pierre, Jorge Henrique Arraes de Alencar; Santana, Expedito Araujo

    2000-01-01

    Agenesis or aplasia of the maxillary sinuses is an extremely rare condition, and only eight cases have been reported in the world medical literature. These malformations may arise as a result of developmental defects. Two cases of unilateral agenesis of the maxillary sinus are presented and the radiological abnormalities and the embryology are discussed. The literature is also reviewed. (author)

  19. Multiple cerebral venous sinus thrombosis: Case report

    African Journals Online (AJOL)

    (1). Headache was present in our patient. This symptom, in association with vomiting is a feature of intracranial hypertension. Normal cerebro-spinal fluid flow patterns have the final common pathway as the reabsorption by the arachnoid granulations and flow into the venous sinuses (6). Thrombosis within the sinuses block.

  20. A Rational Approach to Sinus Augmentation: The Low Window Sinus Lift

    Directory of Open Access Journals (Sweden)

    Terry Zaniol

    2017-01-01

    Full Text Available Sinus augmentation is a well-known approach to treating alveolar bone ridge atrophy in the posterior maxilla. The preparation of the lateral window is crucial. Its size, design, and position in the vestibular sinus wall may affect the intra- and postsurgical complication rates and affect the intrasurgical activity of both surgeons and assistants. The present paper describes a rational technique that also exploits the guided surgery approach for design and preparation of a lateral window for sinus augmentation, the Low Window Sinus Lift. To illustrate the use of this approach, a case is presented in which the 50-year-old patient had the left maxillary first molar extracted, followed two months later by sinus augmentation and placement of three implants. One year after delivery of the definitive prosthesis, all three implants were successful, and the prosthesis was fully functional. Controlled studies should be undertaken to assess whether this technique provides significant advantages compared to other sinus augmentation approaches.

  1. Bilateral Maxillary Sinus Hypoplasia

    Science.gov (United States)

    Khanduri, Sachin; Agrawal, Sumit; Goyal, Swati

    2014-01-01

    Maxillary sinus hypoplasia (MSH) is an uncommon abnormality of paranasal sinuses noted in clinical practice. Computed tomography (CT) scan helps in diagnosing the anomaly along with any anatomical variation that may be associated with it. MSH is usually associated with other anomalies like uncinate process hypoplasia. Three types of MSH have been described. Type 1 MSH shows mild maxillary sinus hypoplasia, type 2 shows significant sinus hypoplasia with narrowed infundibular passage and hypoplastic or absent uncinate process, and type 3 is cleft like maxillary sinus hypoplasia with absent uncinate process. CT and endoscopic examination usually complement each other in diagnosing MSH. PMID:25548709

  2. When Maxillary Sinusitis Does Not Heal: Findings on CBCT Scans of the Sinuses With a Particular Focus on the Occurrence of Odontogenic Causes of Maxillary Sinusitis.

    Science.gov (United States)

    Vestin Fredriksson, Malin; Öhman, Anders; Flygare, Lennart; Tano, Krister

    2017-12-01

    This study sought to investigate the proportion of patients with suspected sinusitis referred for radiological examination who have radiologically verified sinusitis of odontogenic origin and to describe this type of sinusitis. This investigation is a retrospective study. A total of 303 sinus examinations involving cone beam computed tomography (CBCT) performed at Sunderby Hospital, Luleå, Sweden in 2012 were independently reviewed by two radiologists. The number of cases of maxillary sinusitis and the correlation between maxillary sinusitis and odontogenic infections were determined. Overall, 24% of the verified cases of sinusitis were odontogenic. An odontogenic origin was identified in 40% of unilateral maxillary sinusitis cases but only 6% of bilateral maxillary sinusitis cases ( p  = 0.0015). Forty-nine out of 54 patients with periapical destruction had adjacent mucosal swelling in the maxillary sinus, but only 15 of these patients satisfied the criteria for sinusitis. The present study confirms the close relationship between odontogenic infections and unilateral maxillary sinusitis. Level of Evidence 4.

  3. A Rare Diabetic Autonomic Neuropathy: Carotid Sinus Hypersensitivity

    Directory of Open Access Journals (Sweden)

    Ahmet Kaya

    2016-03-01

    Full Text Available Carotid sinus hypersensitivity is a common cause of fainting and falls in the elderly, and can be diagnosed by carotid sinus massage. We present a 67-year-old diabetic man who was admitted with hyperglycemia. During thyroid examination, clouding of consciousness occurred with unilateral palpation. Asystole was documented for 4.8 seconds and suspected for 7 seconds upon carotid sinus massage. A cardioverter defibrillator was implanted. Carotid sinus hypersensitivity should be kept in mind when examining diabetic patients.

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

    DEFF Research Database (Denmark)

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

    2014-01-01

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

  5. Clinical presentation of Attenuated Psychosis Syndrome in children and adolescents : Is there an age effect?

    NARCIS (Netherlands)

    Ribolsi, Michele; Lin, Ashleigh; Wardenaar, Klaas J.; Pontillo, Maria; Mazzone, Luigi; Vicari, Stefano; Armando, Marco

    There is limited research on clinical features related to age of presentation of the Attenuated Psychosis Syndrome in children and adolescents (CAD). Based on findings in CAD with psychosis, we hypothesized that an older age at presentation of Attenuated Psychosis Syndrome would be associated with

  6. Staphylococcal toxic shock syndrome presenting as acute respiratory distress and cor pulmonale.

    Science.gov (United States)

    Zaki, S A; Shanbag, P; Chavan, V; Shenoy, P

    2010-01-01

    We describe a 7-year-old boy with staphylococcal toxic shock syndrome who presented with acute respiratory distress and cor pulmonale. We wish to highlight this unusual presentation as the diagnosis of toxic shock syndrome depends chiefly on a high degree of clinical suspicion. Early diagnosis and prompt institution of appropriate therapy will significantly reduce morbidity and mortality.

  7. Congenital Prepubic Sinus: A Case Report | Harjai | African Journal ...

    African Journals Online (AJOL)

    Congenital Prepubic Sinus: A Case Report. M M Harjai, R Handa, R Kale. Abstract. Congenital prepubic sinus is an exceptional disorder of uncertain origin. These sinuses may represent a variant of epispadiac duplication or dorsal urethral duplication of the urethra.We present a case of isolated blind ending prepubic ...

  8. Acute renal failure: A rare presentation of Sheehan′s syndrome

    Directory of Open Access Journals (Sweden)

    Manzoor A Bhat

    2012-01-01

    Full Text Available Sheehan′s syndrome occurs as a result of ischemic pituitary necrosis secondary to severe postpartum bleeding. It is one of the most common causes of hypopituitarism, characterized by variable clinical presentation. Acute kidney injury occurs rarely in Sheehan′s syndrome and most of the cases have been found to be precipitated by rhabdomyolysis. We here present a case of Sheehan′s syndrome with acute kidney injury where theprecipitating cause was chronic hypocortisolemia. We believe this is the first reported case of Sheehan′s syndrome in which acute kidney injury was precipitated by adrenal insufficiency.

  9. Chédiak-Higashi syndrome: presentation of seven cases

    Directory of Open Access Journals (Sweden)

    Eugénia Maria Grilo Carnide

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

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

    Science.gov (United States)

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

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

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

    Science.gov (United States)

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

    2012-07-01

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

  12. Clinical presentation of Attenuated Psychosis Syndrome in children and adolescents: Is there an age effect?

    Science.gov (United States)

    Ribolsi, Michele; Lin, Ashleigh; Wardenaar, Klaas J; Pontillo, Maria; Mazzone, Luigi; Vicari, Stefano; Armando, Marco

    2017-06-01

    There is limited research on clinical features related to age of presentation of the Attenuated Psychosis Syndrome in children and adolescents (CAD). Based on findings in CAD with psychosis, we hypothesized that an older age at presentation of Attenuated Psychosis Syndrome would be associated with less severe symptoms and better psychosocial functioning than presentation in childhood or younger adolescence. Ninety-four CAD (age 9-18) meeting Attenuated Psychosis Syndrome criteria participated in the study. The sample was divided and compared according to the age of presentation of Attenuated Psychosis Syndrome (9-14 vs 15-18 years). The predictive value of age of Attenuated Psychosis Syndrome presentation was investigated using receiver operating characteristic (ROC)-curve calculations. The two Attenuated Psychosis Syndrome groups were homogeneous in terms of gender distribution, IQ scores and comorbid diagnoses. Older Attenuated Psychosis Syndrome patients showed better functioning and lower depressive scores. ROC curves revealed that severity of functional impairment was best predicted using an age of presentation cut-off of 14.9 years for social functioning and 15.9 years for role functioning. This study partially confirmed our hypothesis; older age at presentation of Attenuated Psychosis Syndrome was associated with less functional impairment, but age was not associated with psychotic symptoms. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

  13. Ectopic pyriform sinus parathyroid adenoma.

    Science.gov (United States)

    Guevara, N; Agopian, B; Benisvy, D; Lassalle, S; Santini, J; Castillo, L

    2013-04-01

    To describe the diagnosis and treatment of ectopic pyriform sinus parathyroid adenoma. A 44-year-old woman presented with persistent primary hyperparathyroidism after previous failed cervical exploratory surgery. Diagnosis of ectopic pyriform sinus parathyroid adenoma was suggested by computed tomography and technetium-99m sestamibi scintigraphy (99mTc-MIBI SPECT/CT). A submucosal tumor was identified under laryngoscopy and resected by endoscopic CO2 laser. Histopathology confirmed the diagnosis of parathyroid adenoma. Ectopic pyriform sinus locations are rare in parathyroid adenoma. 99mTc-MIBI SPECT/CT facilitates diagnosis, especially in case of previous failed neck exploration. Endoscopic CO2 laser resection is the treatment of choice. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

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

    OpenAIRE

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

    2015-01-01

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

  15. Pediatric posterior reversible encephalopathy syndrome presenting with isolated cerebellar edema and obstructive hydrocephalus.

    Science.gov (United States)

    Ettinger, Nicholas; Pearson, Matthew; Lamb, Fred S; Wellons, John C

    2014-10-01

    In this report, the authors describe the case of a teenage boy who presented with hypertensive emergency, posterior reversible encephalopathy syndrome, and hydrocephalus due to fourth ventricle outlet obstruction. Posterior reversible encephalopathy syndrome is a well-characterized but uncommon syndrome in children that is generally triggered by severe hypertension. The unusual clinical picture of this patient, who had isolated cerebellar edema leading to obstructive hydrocephalus, has been rarely described in children.

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

    Directory of Open Access Journals (Sweden)

    Anirban Sarkar

    2013-01-01

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

  17. Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and Future

    Directory of Open Access Journals (Sweden)

    Soo-Hyun Kim

    2015-12-01

    Full Text Available The proper development and coordination of the hypothalamic-pituitary-gonadal (HPG axis are essential for normal reproductive competence. The key factor that regulates the function of the HPG axis is gonadotrophin-releasing hormone (GnRH. Timely release of GnRH is critical for the onset of puberty and subsequent sexual maturation. Misregulation in this system can result in delayed or absent puberty and infertility. Congenital hypogonadotropic hypogonadism (CHH and Kallmann syndrome (KS are genetic disorders that are rooted in a GnRH deficiency but often accompanied by a variety of non-reproductive phenotypes such as the loss of the sense of smell and defects of the skeleton, eye, ear, kidney, and heart. Recent progress in DNA sequencing technology has produced a wealth of information regarding the genetic makeup of CHH and KS patients and revealed the resilient yet complex nature of the human reproductive neuroendocrine system. Further research on the molecular basis of the disease and the diverse signal pathways involved will aid in improving the diagnosis, treatment, and management of CHH and KS patients as well as in developing more precise genetic screening and counseling regime.

  18. Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and Future

    Science.gov (United States)

    2015-01-01

    The proper development and coordination of the hypothalamic-pituitary-gonadal (HPG) axis are essential for normal reproductive competence. The key factor that regulates the function of the HPG axis is gonadotrophin-releasing hormone (GnRH). Timely release of GnRH is critical for the onset of puberty and subsequent sexual maturation. Misregulation in this system can result in delayed or absent puberty and infertility. Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are genetic disorders that are rooted in a GnRH deficiency but often accompanied by a variety of non-reproductive phenotypes such as the loss of the sense of smell and defects of the skeleton, eye, ear, kidney, and heart. Recent progress in DNA sequencing technology has produced a wealth of information regarding the genetic makeup of CHH and KS patients and revealed the resilient yet complex nature of the human reproductive neuroendocrine system. Further research on the molecular basis of the disease and the diverse signal pathways involved will aid in improving the diagnosis, treatment, and management of CHH and KS patients as well as in developing more precise genetic screening and counseling regime. PMID:26790381

  19. Wolf-Hirschhorn syndrome presenting with cardiac manifestations at birth

    Directory of Open Access Journals (Sweden)

    Sudhir D Malwade

    2016-01-01

    Full Text Available Wolf–Hirschhorn syndrome (WHS is a condition of developmental delay and dysmorphology caused by a deletion of short arm of chromosome 4. The main characteristics of WHS are intra and extrauterine growth retardation, mental retardation with typical facial dysmorphism, microcephaly, and midline fusion defects. The diagnosis is based on clinical features and chromosomal analysis, e.g., microsatellite analysis or molecular cytogenetic techniques and fluorescence in situ hybridization (FISH to detect the deletion. Prenatal diagnosis is possible by FISH. Though no specific treatment is available, supportive management can be fruitful. Here, we describe a female baby with a 4p deletion, who had the majority of the main phenotypic features of WHS and severe congenital heart disease manifesting at birth. The case emphasized that any fetus with intrauterine growth retardation, dysmorphic features on antenatal scan, and midline defects should raise a suspicion of WHS. Conventional cytogenetic studies can miss the diagnosis; hence, these cases should be further investigated using molecular cytogenetic techniques such as FISH or array-comparative genomic hybridization.

  20. Pilonidal sinus – challenges and solutions

    Directory of Open Access Journals (Sweden)

    Guner A

    2015-09-01

    Full Text Available Ali Guner, Arif Burak Cekic Department of General Surgery, Karadeniz Technical University, Farabi Hospital, Trabzon, Turkey Abstract: Although it is clinically asymptomatic in some cases, pilonidal sinus disease may also present as a complicated disease, characterized by multiple sinus tracts, leading to severe impairment of patient quality of life. Although clinical studies of pilonidal sinus have been conducted for approximately a century, the gold standard for treatment is undefined. The ideal treatment requires a shorter hospital stay, requires less wound care, results in rapid recovery, maintains quality of life, and has low recurrence rates. In this review, we aim to discuss the challenges and possible solutions for the management of pilonidal sinus disease. Keywords: pilonidal sinus disease, surgery, management, complications, recurrence

  1. Cardiovocal syndrome – A rare presentation of primary pulmonary hypertension

    Directory of Open Access Journals (Sweden)

    Om Shankar

    2014-05-01

    Full Text Available Primary pulmonary hypertension is a well known entity with characteristic features more common in females presenting commonly with dyspnea. However primary pulmonary hypertension presenting as hoarseness of voice is rare occurring most likely due to compression of left recurrent laryngeal nerve between normal aorta and dilated tense pulmonary artery. Here we are presenting a case of 19 year old boy with primary pulmonary hypertension who presented with hoarseness of voice as predominant symptom.

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

    Directory of Open Access Journals (Sweden)

    Lachenmeier Dirk W

    2006-05-01

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

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

    Science.gov (United States)

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

    2006-05-10

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

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

    Directory of Open Access Journals (Sweden)

    Kundan Mittal

    2014-01-01

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

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

    NARCIS (Netherlands)

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

    2012-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Lindor Noralane M

    2012-10-01

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

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

    Directory of Open Access Journals (Sweden)

    Al-Otaibi Faisal

    2012-05-01

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

  8. Unusual presentation of adult Marfan syndrome as a complex diaphragmatic hiatus hernia.

    Science.gov (United States)

    Thakur, Shruti; Jhobta, Anupam; Sharma, Brij; Chauhan, Arun; Thakur, Charu S

    2017-07-01

    Marfan syndrome is multisystem connective tissue disorder that primarily involves the skeletal, cardiovascular, and ocular systems. The gastrointestinal complications in Marfan syndrome are rare, with only a few case reports described in the literature. We present a 25-year-old woman who presented with acute abdominal pain for 1 day. The imaging features revealed complex diaphragmatic hiatus hernia with organoaxial gastric volvulus. This is a unique case report about an adult patient with Marfan syndrome who presented with symptomatic paraesophageal hernia and organoaxial gastric volvulus. Copyright © 2014. Published by Elsevier Taiwan.

  9. Carcinoma of Maxillary Sinus Masquerading as Odontogenic Infection.

    Science.gov (United States)

    Ramachamparambathu, Ashir Kolikkal; Vengal, Manoj; Mufeed, Abdulla; Siyo, Nizaro; Ahmed, Anis

    2016-09-01

    Malignant tumours of maxillary sinus are rare. They are usually diagnosed in the late stages when they perforate the sinus walls. The presence of large air space in the maxillary sinus facilitates asymptomatic growth of the sinus malignancy. The clinical presentation of these tumours depends on the sinus wall involved by the disease. The medial wall is usually the first to become eroded, leading to nasal obstruction, epistaxis or discharge. Rarely, symptoms of maxillary sinus carcinoma can resemble dental infection and the affected patients may visit dental clinic seeking treatment. This report presents a case of carcinoma of maxillary sinus mimicking odontogenic infection. Computed tomographic findings explained the reason for the present lesion to masquerade as an inflammatory condition. The importance of advanced imaging modalities for prompt identification of such lesions is discussed.

  10. Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome

    Directory of Open Access Journals (Sweden)

    Gloria Colarusso

    2010-06-01

    Full Text Available We report a case of an 8-year-old male patient with Evans syndrome and severe hypogammaglobulinemia, subsequently in whom the 22q11.2 deletion syndrome (22q11.2 DS was diagnosed. No other clinical sign of 22q11.2 DS was present with the exception of slight facial dysmorphism. The case is of particular interest because it suggests the need to research chromosome 22q11.2 deletion in patients who present with autoimmune cytopenia and peculiar facial abnormalities, which could be an atypical presentation of an incomplete form of 22q11.2 DS.

  11. Unusual Presentation of the Conn's Syndrome: a Case Report

    Directory of Open Access Journals (Sweden)

    Maryam Al-Rajhi

    2011-11-01

    Full Text Available A 26 -year- old woman presented with rhabdomyolysis secondary to severe hypokalemia. Hypertension and metabolic alkalosis could lead to the suspicion of primary aldosteronism, which was confirmed by a decreased plasma rennin, elevated plasma aldosterone levels and high aldosterone/rennin ratio additionally. Additionally adrenal computed tomography showed an adrenal tumour. Blood pressure and hypokalemia returned to the normal level after adrenalectomy was performed. This case report highlights the need to be alert to the possibility of primary aldosteronism incidence in a patient presenting with rhabdomyolysis and hypertension caused by severe hypokalemia.

  12. Double dermal sinuses: a case study

    Directory of Open Access Journals (Sweden)

    El Khashab Mostafa

    2008-08-01

    Full Text Available Abstract Introduction Dermal sinus tracts are rare congenital lesions located in the midline characterized by a cutaneous pit or dimple. They occur all along the midline neuroaxis, from the nasion and occipital area down to the lumbar and sacral regions, most frequently in the lumbar and lumbosacral region. Case presentation Here we report a 5-year-old girl who presented with occasional headache. There were two dimples, one on the dorsal aspect of her head and another on her neck. Conclusion Dermal sinuses are almost always singular and the co-existence of double dermal sinuses has not been reported previously.

  13. Intraspinal Abscess Associated with Congenital Dermal Sinus: Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Bom Yi; Jung, Won Sung; Ihn, Yon Kwon [Dept. of Radiology, College of Medicine, The Catholic University of Korea, Seoul (Korea, Republic of)

    2011-05-15

    Dermal sinus tracts are remnants of incomplete neural tube closure. Dermal sinus tracts in the spine range from asymptomatic pits to tracts with significant disease. Congenital spinal dermal sinus tract can produce significant morbidity if not adequately managed. Spinal subdural abscess caused by the spread of an infection within the dermal sinus tract is rare in children. We now described a 3-year-old male who presented with extensive spinal subdural abscess resulting from dermal sinus tract that was low-lying in the sacral area.

  14. Systemic sclerosis presenting as CREST syndrome: A case report ...

    African Journals Online (AJOL)

    Case report. A 31 years old female patient from senafe with remote history of systemic sclerosis and recurrent hospital admissions presented to the ED of Orotta hospital with shortness of breath and altered mental status. She had generalized body weakness, and dry cough associated with chest pain. She also complained.

  15. Mitochondrial DNA depletion syndrome presenting with ataxia and ...

    African Journals Online (AJOL)

    The patient presented to Cairo University Pediatric Hospital with the clinical suspicion of mitochondrial encephalomyopathy. Histochemical and biochemical studies of the respiratory chain complexes were performed on the muscle biopsy specimen from the patient. Molecular diagnosis was done by quantitative radioactive ...

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

    Science.gov (United States)

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

    2015-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Guillaume Jedraszak

    2015-01-01

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

  18. Pilonidal Sinus of the Penis

    Directory of Open Access Journals (Sweden)

    Hugh F. O'Kane

    2004-01-01

    Full Text Available A pilonidal sinus is a subcutaneous sinus containing hair. It is most commonly found in the natal cleft of hirsute men. Here we describe the unusual finding of a pilonidal sinus arising on the male foreskin.

  19. A Rare Presentation of Xanthogranulomatous Cholecystitis as Bouveret’s Syndrome

    Directory of Open Access Journals (Sweden)

    Ayşegül Solmaz Tuncer

    2012-01-01

    Full Text Available The purpose of this paper is to present sonographic and CT imaging findings of xanthogranulomatous cholecystitis (XGC presented as Bouveret’s syndrome, a very rare cause of gastric obstruction. While the patient’s physical examination, upper GI endoscopy, and radiological findings all pointed to Bouveret’s syndrome, CT differential diagnosis suggested either XGC or gallbladder carcinoma, and the final diagnosis was done histopathologically. Our paper aims to increase awareness in radiologically diagnosing XGC cases by introducing the possibility of existence of Bouveret’s syndrome.

  20. Empty sella syndrome presenting as panhypopituitarism in a child

    Directory of Open Access Journals (Sweden)

    Sharmin Jahan

    2016-08-01

    Full Text Available Empty Sella refers to the absence or relative absence of the pituitary gland on radiologic imaging of the Sella turcica. This is usually an incidental finding, and as few as 10% patients presents with Hypopituitarism. The authors report a 13.5-year-old boy who presei1ted with short stature and absence of signs of pubertal onset. Hormonal assay showed panhypopi­tuitarism. X-ray left wrist joint showed delayed bone age and finally MRl of the brain revealed empty Sella. Growth hormone replacement therapy was started to increase the height. The boy is now on regular follow up to monitor response to treatment.

  1. Dentigerous cyst associated with a displaced tooth in the maxillary sinus: an unusual cause of recurrent sinusitis in an adolescent

    Energy Technology Data Exchange (ETDEWEB)

    Prabhu, Sanjay P.; Robson, Caroline D. [Children' s Hospital Boston and Harvard Medical School, Department of Radiology, Division of Neuroradiology, Boston, MA (United States); Padwa, Bonnie L. [Children' s Hospital Boston and Harvard Medical School, Department of Oral and Maxillofacial Surgery, Boston, MA (United States); Rahbar, Reza [Children' s Hospital Boston and Harvard Medical School, Department of Otolaryngology and Communication Enhancement, Boston, MA (United States)

    2009-10-15

    We report an unusual case of a displaced maxillary molar and associated dentigerous cyst within the maxillary sinus in an adolescent presenting as recurrent sinusitis. Although a rare cause of sinusitis in children, dentigerous cysts should be included in the differential diagnosis for causes of persistent or recurrent sinusitis in this age group. This report provides further evidence for obtaining imaging studies when managing pediatric sinusitis that does not respond to standard antibiotic therapy. We discuss management options for these lesions including the differential diagnoses and need for follow-up. (orig.)

  2. Sphenoid Sinusitis and Migraine-Type Headache

    Directory of Open Access Journals (Sweden)

    J. Gordon Millichap

    2002-02-01

    Full Text Available Three case histories of children (ages 10, 12, and 14 years with isolated sphenoid sinusitis who presented with acute, subacute, and chronic headache symptoms resembling migraine are reported from the University of Texas-Houston Medical School.

  3. A unique association of Noonan syndrome and 47,XYY syndrome in a male presenting with failure to thrive.

    Science.gov (United States)

    Bellfield, Edward J; Shad, Zohra

    2017-09-01

    We describe a 24-month-old male patient who presented to our Genetics-Endocrinology Clinic with a history of failure to thrive, short stature and cryptorchidism. Soon after birth he was diagnosed with 47,XYY syndrome, but due unusual facial features had further diagnostic workup which revealed Noonan syndrome (NS) as well. This report illustrates significant phenotypic-cytogenetic variability within the clinical presentation of NS and 47,XYY syndrome, as well as the need to investigate patients for other genetic defects when phenotype does not correlate with genotype. Furthermore, in this case, the cellular pathways attenuating growth via PTPN11 mutation appear to supersede the SHOX overdosage-an observation that can lead to further research in genetic mechanisms of growth physiology.

  4. Double dermal sinuses: a case study.

    Science.gov (United States)

    El Khashab, Mostafa; Nejat, Farideh; Ertiaei, Abolhasan

    2008-08-26

    Dermal sinus tracts are rare congenital lesions located in the midline characterized by a cutaneous pit or dimple. They occur all along the midline neuroaxis, from the nasion and occipital area down to the lumbar and sacral regions, most frequently in the lumbar and lumbosacral region. Here we report a 5-year-old girl who presented with occasional headache. There were two dimples, one on the dorsal aspect of her head and another on her neck. Dermal sinuses are almost always singular and the co-existence of double dermal sinuses has not been reported previously.

  5. Computed Tomography (CT) -- Sinuses

    Medline Plus

    Full Text Available ... Computed tomography (CT) of the sinuses uses special x-ray equipment to evaluate the paranasal sinus cavities – hollow, ... is a diagnostic medical test that, like traditional x-rays, produces multiple images or pictures of the inside ...

  6. Odontogene sinusitis maxillaris

    NARCIS (Netherlands)

    Weijerman, J.E.

    1972-01-01

    Een oroantrale fistel blijkt in 51,7% der gevallen geleid te hebben tot een chronische en slechts in 29,2% tot een acute sinusitis (tabel 7 blz.72). Een verklaring hiervoor is vermoedelijk de goede drainagemogelijkheid van de sinus doordat het ostium meestal open is en bovendien afvoer van de pus

  7. cerebral venous sinus thrombosis

    African Journals Online (AJOL)

    2010-05-05

    May 5, 2010 ... This was better demonstrated on sagittal (Figure 1C) reformatted scans which showed lack of enhancement in the superior sagittal sinus. A diagnosis of superior sagittal sinus thrombosis with bilateral parasagittal infarcts, the right being haemorrhagic was made. The patient was managed with I.V heparin.

  8. Computed Tomography (CT) -- Sinuses

    Medline Plus

    Full Text Available ... done with low-dose technique. top of page What are the limitations of CT of the Sinuses? CT is usually the first test ordered when a sinus tumor is suspected. If additional information is needed to determine the extent of soft tissue of the tumor, magnetic resonance imaging (MRI) may ...

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

    Science.gov (United States)

    2014-01-01

    Background Guillain–Barré syndrome is an immune mediated acute inflammatory polyradiculo-neuropathy involving the peripheral nervous system. Commonest presentation is acute or subacute flaccid ascending paralysis of limbs. Rarely autonomic dysfunction can be the presenting feature of Guillain–Barré syndrome. Raynaud’s phenomenon, although had been described in relation to many disease conditions, has not been described in association with Guillain–Barré syndrome up to date. Case presentation We report the first case of Guillain–Barré syndrome presenting with Raynaud’s phenomenon in a 21-year-old previously well boy. New onset Raynaud’s phenomenon was experienced followed by acute ascending flaccid paralysis of lower limbs and upper limbs together with palpitations and postural giddiness. Nerve conduction studies showed acute inflammatory demyelinating polyneuropathy with cerebrospinal fluid cyto-protein dissociation. He was treated with intravenous immunoglobulin and showed a satisfactory clinical recovery of muscle weakness, Raynaud’s phenomenon and autonomic disturbances. Conclusion Guillain–Barré syndrome presenting with Raynaud’s phenomenon is not being reported in literature previously. Although the underlying mechanism is not fully understood, Raynaud’s phenomenon should prompt the physician to consider Guillain–Barré syndrome with a complimentary clinical picture. PMID:25182165

  10. Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India.

    Science.gov (United States)

    Ganie, M A; Laway, B A; Nisar, S; Wani, M M; Khurana, M L; Ahmad, F; Ahmed, S; Gupta, P; Ali, I; Shabir, I; Shadan, A; Ahmed, A; Tufail, S

    2011-11-01

    Wolfram syndrome, also known as DIDMOAD, is a relatively rare inherited neurodegenerative disorder, first evident in childhood as an association of juvenile-onset diabetes mellitus and optic atrophy, followed by diabetes insipidus and deafness. The aim of the study was to examine the clinical profile of patients with DIDMOAD syndrome presenting to a tertiary care hospital in north India. Clinical presentation of juvenile-onset diabetes mellitus fulfilling the diagnosis of Wolfram syndrome was studied using a prepared standardized form. Subjects with juvenile-onset non-autoimmune diabetes mellitus attending the diabetic clinic at a tertiary care centre in north India were followed for 10 years and a diagnosis of fully developed Wolfram syndrome was confirmed in seven individuals. The series consisted of five male and two female patients with a mean age of 17.5 ±7.34 years. Two subjects had consanguinity and none had any other family member affected. Optic atrophy was present in all, sensorineural hearing loss in 4/7, central diabetes insipidus in 4/7 and nephrogenic diabetes insipidus in 2/7 subjects. The new associations found were: spastic myoclonus, short stature with pancreatic malabsorption, nephrogenic diabetes insipidus, cyanotic heart disease and choledocholithiasis with cholangitis. Genetic analysis revealed mutation in exon 8 of the WFS1 gene in all the cases studied. The present clinical series of Wolfram syndrome reveals a varied clinical presentation of the syndrome and some new associations. © 2011 The Authors. Diabetic Medicine © 2011 Diabetes UK.

  11. [Maxillary sinus myxoma].

    Science.gov (United States)

    Niedzielski, Artur; Partycka-Pietrzyk, Kornela; Brodzisz, Agnieszka; Walczyna, Beata; Mielnik-Niedzielska, Grażyna

    2016-07-29

    Myxoma is a slow growing, benign neoplasm, which pathogenesis still remains disputed. The lesion has well-defined borders but a true capsule is absent. Because of that myxoma can be locally invasive causing bone destruction. A change is mainly observed among persons between 20-30 years of age and is very uncommon in the pediatric population. Most myxomas are observed in myocardium, but rarely may also manifest in the head and neck region. In the paper we describe an unusual case of myxoma of maxillary sinus in a female infant. Diagnostic challenges, treatment, outcome, post-operative follow-up are discussed as well as a review of the literature in order to present many features of this rare pathology. © 2016 MEDPRESS.

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

    Directory of Open Access Journals (Sweden)

    Massarotti Marco

    2008-07-01

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

  13. Dyspnoea in-patient with antiphospholipid syndrome; case Presentation and literature revision

    International Nuclear Information System (INIS)

    Restrepo, Lucas; Londono, Maria Carlota; Anaya, Juan Manuel

    2001-01-01

    The antiphospholipid syndrome (AFS) is characterized by vascular thrombosis and/or pregnancy morbidity associated to presence of antiphospholipid antibodies (anticardiolipin and/or lupus anticoagulant), This syndrome may occur alone primary -PAFS-) or in association with systemic lupus erythematosus (secondary -SAFS, Both primary and secondary AFS can be responsible for systemic manifestations other than vascular, among them pulmonary, Here is presented a patient with dyspnoea due to pulmonary hypertension (PHT) and interstitial pulmonary disease (IPD), in whom a diagnostic of SAFS was done, The pulmonary manifestations of the AFS are revised including pulmonary thromboembolism, PHT, IPD, pulmonary hemorrhage, and adult respiratory syndrome with multisystemic failure

  14. Chediak-higashi syndrome presented as accelerated phase: case report and review of the literature.

    Science.gov (United States)

    Bouatay, Amina; Hizem, Sondes; Tej, Amel; Moatamri, Wided; Boughamoura, Lamia; Kortas, Mondher

    2014-09-01

    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease, characterized by partial oculocutaneous albinism, recurrent pyogenic infections (skin, mucosa and respiratory system), and neurologic deficit. The hallmark of this syndrome is the presence of abnormal intracytoplasmic giant granules in all granule containing cells including leukocytes in blood and bone marrow. A majority (85 %) of patients with CHS develop an accelerated phase consisting of a lymphoproliferative syndrome with hemophagocytosis and infiltration of most tissues. This phase is characterized by fever, jaundice, hepatosplenomegaly, lymphadenopathy, pancytopenia and neurological abnormalities. In this paper, we report a case of CHS presented as accelerated phase in a 9-month-old girl child.

  15. Guillain-Barré syndrome presenting with Raynaud's phenomenon: a case report.

    Science.gov (United States)

    Gunatilake, Sonali Sihindi Chapa; Wimalaratna, Harith

    2014-09-03

    Guillain-Barré syndrome is an immune mediated acute inflammatory polyradiculo-neuropathy involving the peripheral nervous system. Commonest presentation is acute or subacute flaccid ascending paralysis of limbs. Rarely autonomic dysfunction can be the presenting feature of Guillain-Barré syndrome. Raynaud's phenomenon, although had been described in relation to many disease conditions, has not been described in association with Guillain-Barré syndrome up to date. We report the first case of Guillain-Barré syndrome presenting with Raynaud's phenomenon in a 21-year-old previously well boy. New onset Raynaud's phenomenon was experienced followed by acute ascending flaccid paralysis of lower limbs and upper limbs together with palpitations and postural giddiness. Nerve conduction studies showed acute inflammatory demyelinating polyneuropathy with cerebrospinal fluid cyto-protein dissociation. He was treated with intravenous immunoglobulin and showed a satisfactory clinical recovery of muscle weakness, Raynaud's phenomenon and autonomic disturbances. Guillain-Barré syndrome presenting with Raynaud's phenomenon is not being reported in literature previously. Although the underlying mechanism is not fully understood, Raynaud's phenomenon should prompt the physician to consider Guillain-Barré syndrome with a complimentary clinical picture.

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

    Science.gov (United States)

    Krapf, Jill M; Goldstein, Andrew T

    2013-09-01

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

  17. Lumbar disk herniation presented with cauda equina syndrome in a pregnant woman

    Directory of Open Access Journals (Sweden)

    Tayfun Hakan

    2012-01-01

    Full Text Available Despite low back pain being common in pregnancy, cauda equina syndrome is rare. Misdiagnosis and delay in treatment may cause neurological sequelae including urinary and fecal incontinence, sexual dysfunction in patients. A case of cauda equina syndrome in a pregnant woman at 25-week gestation is presented here. The patient underwent an emergency, standard lumbar microdiscectomy under general anesthesia on prone position. Neither the patient nor the baby had any complication related to surgery.

  18. Sarcomatoid carcinoma of kidney, presenting with leucocytosis as paraneoplastic syndrome: A case report and short review

    Directory of Open Access Journals (Sweden)

    Joydeep Ghosh

    2017-01-01

    Full Text Available Renal cell carcinoma is the ninth most common malignancy. The commonest histopathological type is clear cell carcinoma. The occurrence of sarcomatoid carcinoma is very rare and confers a very poor prognosis. Only 10-20% patients present with paraneoplastic syndromes. Out of the common paraneoplastic syndromes, leucocytosis is one of the least reported. Here, we present a case of sarcomatoid carcinoma of kidney who presented with low-grade fever and leucocytosis, followed by a short review of literature. This is one of the rare situations where a rare histologic variant presents with a rare finding.

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

    LENUS (Irish Health Repository)

    Kaballo, Mohammed A

    2011-08-02

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

  20. Frontal mucocele with intracranial extension causing frontal lobe syndrome.

    Science.gov (United States)

    Weidmayer, Sara

    2015-06-01

    Mucoceles are mucus-containing cysts that form in paranasal sinuses; although mucoceles themselves are benign, this case report highlights the extensive damage they can cause as their expansion may lead to bony erosion and extension of the mucocele into the orbit and cranium; it also presents a rarely reported instance of frontal sinus mucocele leading to frontal lobe syndrome. A thorough discussion and review of mucoceles is included. A 68-year-old white man presented with intermittent diplopia and a pressure sensation in the right eye. He had a history of chronic sinusitis and had had endoscopic sinus surgery 5 years prior. A maxillofacial computed tomography scan revealed a large right frontal sinus mucocele, which had caused erosion along the medial wall of the right orbit and the outer and inner tables of the right frontal sinus. The mucocele had protruded both into the right orbit and intracranially, causing mass effect on the frontal lobe, which led to frontal lobe syndrome. The patient was successfully treated with endoscopic right ethmoidectomy, radial frontal sinusotomy, marsupialization of the mucocele, and transcutaneous irrigation. Paranasal sinus mucoceles may expand and lead to bony erosion and can become very invasive in surrounding structures such as the orbit and cranium. This case not only exhibits a very rare presentation of frontal sinus mucocele with intracranial extension and frontal lobe mass effect causing a frontal lobe syndrome but also demonstrates many of the ocular and visual complications commonly associated with paranasal sinus mucoceles. Early identification and surgical intervention is vital for preventing and reducing morbidity associated with invasive mucoceles, and the patient must be followed regularly to monitor for recurrence.

  1. Isolated fibrous dysplasia of the sphenoid sinus.

    Science.gov (United States)

    Buyuklu, Fuat; Tarhan, Erkan; Cakmak, Ozcan; Ozgirgin, Nuri; Arikan, Unser

    2005-12-01

    Fibrous dysplasia is an uncommon benign bone disorder of unknown etiology in which normal medullary bone is replaced by fibrotic and osseous tissue. Solitary involvement of the sphenoid sinus is unusual. Here, we present the case of a 28-year-old man complaining of occipital and vertical headache. Imaging modalities demonstrated an expansile lesion filling the entire sphenoid sinus. Biopsy specimen was obtained by endoscopic sphenoidotomy. Diagnosis of fibrous dysplasia was made by imaging results and pathologic examination.

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

    Directory of Open Access Journals (Sweden)

    Pavan Kumar

    2014-12-01

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

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

    Science.gov (United States)

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

    2016-05-01

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

  4. Skull Base Osteomyelitis from Otitis Media Presenting as the Collet-Sicard Syndrome

    Directory of Open Access Journals (Sweden)

    Wong-Kein Low

    2018-01-01

    Full Text Available Skull base osteomyelitis can involve the jugular foramen and its associated cranial nerves resulting in specific clinical syndromes. The Collet-Sicard syndrome describes the clinical manifestations of palsies involving cranial nerves IX, X, XI, and XII. We present a rare atypical case of skull base osteomyelitis originating from infection of the middle ear and causing the Collet-Sicard syndrome. Caused by Pseudomonas aeruginosa and Klebsiella pneumoniae, this occurred in an elderly diabetic man subsequent to retention of a cotton swab in an ear with chronic suppurative otitis media. This case report illustrates the possibility of retained cotton swabs contributing to the development of otitis media, skull base osteomyelitis, and ultimately the Collet-Sicard syndrome in the ears of immune-compromised patients with chronically perforated eardrums.

  5. Lenalidomide and Dexamethasone for a Patient of POEMS Syndrome Presenting with Massive Ascites

    Directory of Open Access Journals (Sweden)

    Shuji Ueda

    2014-01-01

    Full Text Available POEMS syndrome is a multisystem disorder characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes. POEMS syndrome is a rare cause of refractory ascites. We report the case of a patient with POEMS syndrome presenting with massive ascites who was treated with very-low-dose lenalidomide and dexamethasone. A 57-year-old Japanese man was admitted to our hospital with pleural effusion, massive ascites, and leg edema. The diagnosis of POEMS syndrome was made based on the combination of the following findings: peripheral neuropathy, organomegaly, endocrinopathy, serum monoclonal protein elevation, skin changes, plasma VEGF elevation, and evidence of extravascular volume overload. Renal dysfunction induced by biopsy-proven renal involvement of POEMS syndrome was observed. Massive ascites of the patient dramatically diminished with long-time treatment of very-low-dose lenalidomide and dexamethasone. Lenalidomide seems to be a very promising therapy for POEMS syndrome presenting with extravascular volume overload such as edema, pleural effusion, and ascites. Very-low-dose lenalidomide might be effective especially for the patients with POEMS-related nephropathy.

  6. Pathophysiology of sinusitis of odontogenic origin.

    Science.gov (United States)

    Taschieri, Silvio; Torretta, Sara; Corbella, Stefano; Del Fabbro, Massimo; Francetti, Luca; Lolato, Alessandra; Capaccio, Pasquale

    2017-05-01

    Sinusitis of odontogenic origin, which is frequently encountered in routine otolaryngological and dental clinical practice, has been described as a reactive maxillary inflammation secondary to maxillary tooth infection or trauma to an odontogenic disease of maxillary bone, dental extractions, implant placement, or endodontic treatment impairing the integrity of the Schneiderian membrane. The aim of the present review was to investigate and discuss the most recent pathophysiological findings, predisposing odontogenic factors, microbiology, and the possible involvement of bacterial biofilms (BB) in the development of sinusitis. The narrative literature review showed that there might be a correlation between the bacteria present in pathological teeth in communication with the sinus and those found in infected sinus. The formation of a BB might be also involved in the etiopathogenesis of sinusitis of odontogenic origin. In conclusion, the true origin of odontogenic sinusitis is still unresolved. In clinical terms, the choice of suitable therapy depends on the characteristics of the biofilm. Further microbiological studies are required to better investigate the role of BB. © 2015 Wiley Publishing Asia Pty Ltd.

  7. An incidental persistent falcine sinus with dominant straight sinus and hypoplastic distal superior sagittal sinus

    Energy Technology Data Exchange (ETDEWEB)

    Manoj, Krishnan Sarojam [Metroscans, Trivandrum (India); Krishnamoorthy, Thamburaj; Thomas, Bejoy; Kapilamoorthy, Tirur Raman [Sree Chitra Tirunal Institute for Medical Sciences and Technology, Department of Imaging Sciences and Interventional Radiology, Trivandrum (India)

    2006-01-01

    An incidental persistent falcine sinus was detected in an otherwise normal brain on MRI in a 12-year-old girl who underwent imaging after clinical suspicion of acute disseminated encephalomyelitis. The falcine sinus was associated with a hypoplastic posterior third of the superior sagittal sinus and a dominant straight sinus. Generally, atresia or hypoplasia of the straight sinus is associated with a persistent falcine sinus in postnatal life; otherwise, the falcine sinus disappears before birth. We discuss the embryological basis for such an association in this case. (orig.)

  8. Computed Tomography (CT) -- Sinuses

    Medline Plus

    Full Text Available ... and accurate. It’s also the most reliable imaging technique for determining if the sinuses are obstructed and ... to obtain images. For children, the CT scanner technique will be adjusted to their size and the ...

  9. Computed Tomography (CT) -- Sinuses

    Medline Plus

    Full Text Available ... Videos About Us News Physician Resources Professions Site Index A-Z Computed Tomography (CT) - Sinuses Computed tomography ( ... cross-sectional images generated during a CT scan can be reformatted in multiple planes, and can even ...

  10. Computed Tomography (CT) -- Sinuses

    Medline Plus

    Full Text Available ... allows the body parts to be distinguished from one another on an x-ray film or CT ... benefits vs. risks? Benefits A CT scan is one of the safest means of studying the sinuses. ...

  11. Computed Tomography (CT) -- Sinuses

    Medline Plus

    Full Text Available Toggle navigation ... the paranasal sinus cavities – hollow, air-filled spaces within the bones of the face surrounding the nasal cavity. CT scanning is painless, noninvasive ...

  12. Computed Tomography (CT) -- Sinuses

    Medline Plus

    Full Text Available ... openings. top of page What are some common uses of the procedure? CT of the sinuses is ... special computer program processes this large volume of data to create two-dimensional cross-sectional images of ...

  13. Computed Tomography (CT) -- Sinuses

    Medline Plus

    Full Text Available ... benefits vs. risks? Benefits A CT scan is one of the safest means of studying the sinuses. ... CT scanning provides very detailed images of many types of tissue as well as the lungs, bones, ...

  14. Computed Tomography (CT) -- Sinuses

    Medline Plus

    Full Text Available ... of the nasal cavity and sinuses. plan for surgery by defining anatomy. top of page How should ... CT scanning may eliminate the need for exploratory surgery and surgical biopsy. No radiation remains in a ...

  15. Computed Tomography (CT) -- Sinuses

    Medline Plus

    Full Text Available ... presence of inflammatory diseases. provide additional information about tumors of the nasal cavity and sinuses. plan for ... Risks There is always a slight chance of cancer from excessive exposure to radiation. However, the benefit ...

  16. Computed Tomography (CT) -- Sinuses

    Medline Plus

    Full Text Available ... cavity and sinuses. plan for surgery by defining anatomy. top of page How should I prepare? You ... other medical conditions and whether you have a history of heart disease, asthma, diabetes, kidney disease or ...

  17. Computed Tomography (CT) -- Sinuses

    Medline Plus

    Full Text Available ... openings. top of page What are some common uses of the procedure? CT of the sinuses is ... is done because a potential abnormality needs further evaluation with additional views or a special imaging technique. ...

  18. Computed Tomography (CT) -- Sinuses

    Medline Plus

    Full Text Available ... sinus cavities – hollow, air-filled spaces within the bones of the face surrounding the nasal cavity. CT ... CD or DVD. CT images of internal organs, bones, soft tissue and blood vessels provide greater detail ...

  19. Expectations of Sinus Surgery

    Science.gov (United States)

    ... ARS HOME ANATOMY Nasal Anatomy Sinus Anatomy Nasal Physiology Nasal Endoscopy Skull Base Anatomy Virtual Anatomy Disclosure ... reduce the pressure in your nose. Avoid strenuous exercise for the first 2 weeks after surgery. Also ...

  20. Computed Tomography (CT) -- Sinuses

    Medline Plus

    Full Text Available ... x-ray equipment to evaluate the paranasal sinus cavities – hollow, air-filled spaces within the bones of the face surrounding the nasal cavity. CT scanning is painless, noninvasive and accurate. It’s ...

  1. Endoscopic Sinus Surgery

    Science.gov (United States)

    ... vitamins, herbal remedies, and spices including vitamin E, garlic, ginger, gingko, and ginseng may increase the risk of bleeding. Some patients may be asked to take antibiotics and/or steroids prior to sinus surgery. This ...

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

    OpenAIRE

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

    2016-01-01

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

  3. Presentation and management of trapped neutrophil syndrome (TNS) in UK Border collies.

    Science.gov (United States)

    Mason, S L; Jepson, R; Maltman, M; Batchelor, D J

    2014-01-01

    Three UK bred Border collie puppies were presented for investigation of pyrexia and severe lameness with associated joint swelling. Investigations revealed neutropenia, radiographic findings suggesting metaphyseal osteopathy, and polyarthritis and all dogs were subsequently confirmed with trapped neutrophil syndrome. Clinical improvement was seen after treatment with prednisolone and antibiotics and the dogs all survived to adulthood with a good short- to medium-term outcome. Trapped neutrophil syndrome is an important differential diagnosis for young Border collie dogs in the UK presenting with pyrexia, neutropenia and musculoskeletal signs. © 2013 British Small Animal Veterinary Association.

  4. Bilateral sudden sensorineural hearing loss as an initial presentation of myelodysplastic syndrome.

    Science.gov (United States)

    Lee, Eun Jung; Yoon, Yong Joo

    2012-01-01

    This study reports an unusual case in which myelodysplastic syndrome presented bilateral sudden sensorineural hearing loss as the first symptom of the disease. The aural symptoms and signs such as tinnitus, dizziness, and hearing impairment of a hematologic disease are common. However, sudden hearing loss as the first manifestation of a hematologic disease is extremely rare. A 76-year-old woman presented with bilateral sudden hearing loss. The patient was found to have myelodysplastic syndrome during a workup for her hearing loss. Unfortunately, the patient's hearing loss did not improve after the medical treatment. Copyright © 2012 Elsevier Inc. All rights reserved.

  5. Fibrous dysplasia of inferior turbinate, middle turbinate, and frontal sinus.

    Science.gov (United States)

    Ozcan, K M; Akdogan, O; Gedikli, Y; Ozcan, I; Dere, H; Unal, T

    2007-01-01

    Fibrous dysplasia (FD) is a non-neoplastic fibro-osseous lesion. Paranasal sinus involvement is infrequent. Involvement of the frontal sinus, sphenoid sinus, and middle turbinate is rare, and only sporadic cases have been reported in the literature. Nasal turbinates and especially the inferior turbinate are the least involved bones of the craniofacial region. To the best of our knowledge, only one case with McCune-Albright syndrome had FD of the inferior turbinate. Here, we report a rare case with FD of inferior and middle turbinates and review literature concerning FD of the craniofacial region.

  6. Osteoblastoma of the ethmoid sinus.

    Science.gov (United States)

    Bacot, B; Eimer, S; Berge, J; De Gabory, L

    2013-01-01

    Osteoblastoma is a rare benign bone tumor that occurs unusually in the nasal sinuses. We report one case of sinonasal osteoblastoma in a 12-year-old girl who presented with nasal obstruction and telecanthus on the right side. Computed tomography revealed a lesion of the right ethmoid sinus with heterogenous bony density, which was displacing the orbital contents and the skull base. Biopsy caused significant bleeding. Magnetic resonance imaging showed intense homogeneous enhancement with typical flow-void areas due to large pathological vessels. This MRI feature must alert the clinician on the diagnosis before biopsy and surgical resection after embolization is performed. This case report describes the diagnostic and therapeutic difficulties of this rare tumor.

  7. Recent temporal trends in the presentation, management, and outcome of women hospitalized with acute coronary syndromes.

    Science.gov (United States)

    Sabbag, Avi; Matetzky, Shlomi; Gottlieb, Shmuel; Fefer, Paul; Kohanov, Orly; Atar, Shaul; Zahger, Doron; Porter, Avital; Koifman, Bella; Goldenberg, Ilan; Segev, Amit

    2015-04-01

    Few data exist on the recent trends in the outcome of women hospitalized with acute coronary syndrome. We examined temporal trends in the hospital management and outcomes of women hospitalized with acute coronary syndrome in a real-world setting. We evaluated time-dependent changes in the clinical characteristics, management strategies, and outcomes of women enrolled in the Acute Coronary Syndrome Israeli Surveys (ACSIS) between 2000 and 2010. Periods were categorized as early (2000-2004) and late (2006-2010). Among 11,536 patients enrolled in ACSIS, 2710 (24%) were women. Frequency of women presenting with acute coronary syndrome had declined from 25% in 2000 to 22% in 2010 (P for trend = .002). Women presented less frequently with ST-elevation myocardial infarction and more frequently with associated comorbidities (P change in time to admission among women hospitalized with acute coronary syndrome, temporal change in management strategies over the last decade may have contributed to improved outcomes in this population. Copyright © 2015 Elsevier Inc. All rights reserved.

  8. Anatomical description of the sinus in the alpaca (Vicugna pacos)

    OpenAIRE

    Zárate L., Rosse; Laboratorio de Anatomía Animal y Fauna Silvestre, Facultad de Medicina Veterinaria, Universidad Nacional Mayor de San Marcos, Lima; Navarrete Z., Miluska; Laboratorio de Anatomía Animal y Fauna Silvestre, Facultad de Medicina Veterinaria, Universidad Nacional Mayor de San Marcos, Lima; Sato S., Alberto; Laboratorio de Anatomía Animal y Fauna Silvestre, Facultad de Medicina Veterinaria, Universidad Nacional Mayor de San Marcos, Lima; Díaz C., Diego; Laboratorio de Farmacología y Toxicología, Facultad de Medicina Veterinaria, Universidad Nacional Mayor de San Marcos, Lima; Huanca L., Wilfredo; Laboratorio de Reproducción Animal, Facultad de Medicina Veterinaria, Universidad Nacional Mayor de San Marcos, Lima

    2015-01-01

    The objective of the present study was to describe the macroscopic anatomy of the sinus in the alpaca. Ten skulls of adult alpacas were prepared by the maceration technique, and the description through longitudinal cuts was done using terminology recommended by the Nomina Anatomica Veterinaria. In addition, X-rays with contrast medium were taken to four adult alpacas to determine the relationships of sinus with other anatomical structures. Results showed that the frontal and maxillary sinus w...

  9. Pott's Puffy Tumor Arising from Frontal Sinusitis

    Energy Technology Data Exchange (ETDEWEB)

    Lim, Ji Yeon; Kang, Hyun Koo [Seoul Veterans Hospital, Seoul (Korea, Republic of)

    2010-02-15

    Pott's puffy tumor is an extremely rare and potentially life-threatening complication of frontal sinusitis. We report a case of a 64-year-old man who presented at our emergency department with mild tenderness on the glabellar area and diplopia. Computed Tomography (CT) revealed frontal sinusitis and osteomyelitis of the frontal bone. Following sinus trephination and long-term antibiotic therapy, the patient achieved a complete recovery.

  10. Isolated straight sinus thrombosis: clinical and neuroradiologic correlates.

    Science.gov (United States)

    Valeriano, J; Bhagavatula, K; Ku, A; Snyder, P J

    1998-04-01

    A rare case of straight sinus thrombosis in a 36-year-old female with sudden onset of status migrainosus is presented. This condition was demonstrated by a linear density in the midline on a noncontrast computed tomography scan, as a filling defect at the location of straight sinus on magnetic resonance imaging, and by the inability to visualize blood flow in the straight sinus on magnetic resonance venography, with a similar demonstration on a 4-vessel digital subtraction angiography.

  11. Bilateral inferior petrosal sinus sampling.

    Science.gov (United States)

    Zampetti, Benedetta; Grossrubatscher, Erika; Dalino Ciaramella, Paolo; Boccardi, Edoardo; Loli, Paola

    2016-07-01

    Simultaneous bilateral inferior petrosal sinus sampling (BIPSS) plays a crucial role in the diagnostic work-up of Cushing's syndrome. It is the most accurate procedure in the differential diagnosis of hypercortisolism of pituitary or ectopic origin, as compared with clinical, biochemical and imaging analyses, with a sensitivity and specificity of 88-100% and 67-100%, respectively. In the setting of hypercortisolemia, ACTH levels obtained from venous drainage of the pituitary are expected to be higher than the levels of peripheral blood, thus suggesting pituitary ACTH excess as the cause of hypercortisolism. Direct stimulation of the pituitary corticotroph with corticotrophin-releasing hormone enhances the sensitivity of the procedure. The procedure must be undertaken in the presence of hypercortisolemia, which suppresses both the basal and stimulated secretory activity of normal corticotrophic cells: ACTH measured in the sinus is, therefore, the result of the secretory activity of the tumor tissue. The poor accuracy in lateralization of BIPSS (positive predictive value of 50-70%) makes interpetrosal ACTH gradient alone not sufficient for the localization of the tumor. An accurate exploration of the gland is recommended if a tumor is not found in the predicted area. Despite the fact that BIPSS is an invasive procedure, the occurrence of adverse events is extremely rare, particularly if it is performed by experienced operators in referral centres. © 2016 The authors.

  12. Bilateral inferior petrosal sinus sampling

    Directory of Open Access Journals (Sweden)

    Benedetta Zampetti

    2016-08-01

    Full Text Available Simultaneous bilateral inferior petrosal sinus sampling (BIPSS plays a crucial role in the diagnostic work-up of Cushing’s syndrome. It is the most accurate procedure in the differential diagnosis of hypercortisolism of pituitary or ectopic origin, as compared with clinical, biochemical and imaging analyses, with a sensitivity and specificity of 88–100% and 67–100%, respectively. In the setting of hypercortisolemia, ACTH levels obtained from venous drainage of the pituitary are expected to be higher than the levels of peripheral blood, thus suggesting pituitary ACTH excess as the cause of hypercortisolism. Direct stimulation of the pituitary corticotroph with corticotrophin-releasing hormone enhances the sensitivity of the procedure. The procedure must be undertaken in the presence of hypercortisolemia, which suppresses both the basal and stimulated secretory activity of normal corticotrophic cells: ACTH measured in the sinus is, therefore, the result of the secretory activity of the tumor tissue. The poor accuracy in lateralization of BIPSS (positive predictive value of 50–70% makes interpetrosal ACTH gradient alone not sufficient for the localization of the tumor. An accurate exploration of the gland is recommended if a tumor is not found in the predicted area. Despite the fact that BIPSS is an invasive procedure, the occurrence of adverse events is extremely rare, particularly if it is performed by experienced operators in referral centres.

  13. Cerebral sinus venous thrombosis

    Directory of Open Access Journals (Sweden)

    Hernando Raphael Alvis-Miranda

    2013-01-01

    Full Text Available Cerebral sinus venous thrombosis (CSVT is a rare phenomenon that can be seen with some frequency in young patients. CSVT is a multifactorial condition with gender-related specific causes, with a wide clinical presentation, the leading causes differ between developed and developing countries, converting CSVT in a condition characterized by a highly variable clinical spectra, difficult diagnosis, variable etiologies and prognosis that requires fine medical skills and a high suspicious index. Patients who presents with CSVT should underwent to CT-scan venography (CVT and to the proper inquiry of the generating cause. This disease can affect the cerebral venous drainage and related anatomical structure. The symptoms may appear in relation to increased intracranial pressure imitating a pseudotumorcerebri. Prognosis depends on the early detection. Correcting the cause, generally the complications can be prevented. Mortality trends have diminished, and with the new technologies, surely it will continue. This work aims to review current knowledge about CSVT including its pathogenesis, etiology, clinical manifestations, diagnosis, and treatment.

  14. Superior Vena Cava Syndrome: A Presenting Feature of Mediastinal Germ Cell Tumor

    Directory of Open Access Journals (Sweden)

    Mahua Roy

    2010-04-01

    Full Text Available Superior vena cava syndrome (SVCS is rare in children. Non-Hodgkin’s Lymphoma (NHL is the most common cause of SVCS in children. This report an adolescent male who presented with SVCS due to mixed germ cell tumor (GCT of the anterior mediastinum with predominant yolk cell component. Such etiology of SVCS is rarely reported.

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

    NARCIS (Netherlands)

    Hove, J.L. van; Wevers, R.A.; Cleemput, J. van; Moerman, P.; Sciot, R.; Matthijs, G.; Schollen, E.; Jong, J.G.N. de; Carey, W.F.; Muller, V.; Nicholls, C.; Perkins, K.; Hopwood, J.J.

    2003-01-01

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

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

    NARCIS (Netherlands)

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

    2003-01-01

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

  17. Panayiotopoulos syndrome presenting with status epilepticus and cardiorespiratory arrest: a case report.

    Science.gov (United States)

    Mujawar, Quais Mohammad; Sen, Santanu; Ali, Mir Dilshad; Balakrishnan, Pramod; Patil, Shekhar

    2011-08-01

    Panayiotopoulos syndrome is early-onset benign childhood epilepsy, now classified as an electroclinical syndrome. The original description in 1989 focused on the triad of nocturnal seizures, tonic eye deviation, and vomiting. With available data from the long-term studies, a wide variety of manifestations have been described, with recognition of autonomic features as being the most prominent aspect of this epilepsy. The presenting symptoms are usually focal seizures comprising autonomic symptoms and/or behavioral changes. Majority of these seizures are in sleep, with half of the seizures progressing to become secondarily generalized. Occasionally, these seizures can present with prominent autonomic features such as ictal vomiting, pallor, flushing/cyanosis, and tachycardia with prolonged thermoregulatory changes lasting for hours, constituting autonomic status epilepticus. Recovery from this autonomic status epilepticus is within hours and is always complete. Autonomic status epilepticus has been previously reported in this epilepsy syndrome, but ictal cardiorespiratory arrest is extremely rare, with only 4 cases being reported in literature. All 4 cases reported in literature recovered spontaneously and did not require resuscitation. Here we present a 3½-year-old male child with Panayiotopoulos syndrome who presented with status epilepticus and ictal cardiorespiratory arrest requiring cardiopulmonary resuscitation for revival.

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

    Directory of Open Access Journals (Sweden)

    Nitin Aherrao

    2012-01-01

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

  19. Brown-bowel syndrome. Review of the literature and presentation of cases

    DEFF Research Database (Denmark)

    Horn, T; Svendsen, L B; Nielsen, R

    1990-01-01

    Four cases of brown-bowel syndrome (BBS) are presented. BBS is found in malabsorptive conditions secondary to diseases involving the liver, pancreas, and gastrointestinal tract. Morphologically, BBS is characterized by deposition of lipofuscin in the tunica muscularis, and electron microscopy shows...

  20. Persistent Mullerian Duct Syndrome presenting as irreducible inguinal hernia – A surprise surgical finding!

    OpenAIRE

    Sekhon, V.; Luthra, M.; Jevalikar, G.

    2017-01-01

    Persistent Mullerian Duct Syndrome (PMDS) is diagnosed as a discrepancy between masculine external genitalia and female internal genitalia during surgery for cryptorchidism or inguinal hernia. Approximately 200 cases have been reported in the literature so far, most of whom are adults. We discuss the management in an infant presenting with irreducible inguinal hernia with contralateral undescended testis.

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

    Science.gov (United States)

    Woll, Christopher; Spotts, P. Hunter

    2016-01-01

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

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

    DEFF Research Database (Denmark)

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

    2011-01-01

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

  3. 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

  4. Gianotti–Crosti Syndrome- the first case report from Bahrain: A rare presentation following vaccinations

    OpenAIRE

    AlSabbagh, Manahel Mahmood; Kassim, Azad Kareem Hussein

    2016-01-01

    Gianotti–Crosti Syndrome is an idiopathic nonspecific cutaneous host response. It manifests as a benign papular rash classically limited to the extremities and the face. We are reporting a case of an eighteen-month-old healthy boy presented with an itchy papular rash of one week duration, two days following vaccinations.

  5. Presentation of an uncommon form of aortic dissection and rupture in Marifoan syndrome

    International Nuclear Information System (INIS)

    Delgado, I.; Ruiz, R.; Villanueva, J.M.; Fernandez Cueto, J.L.

    1995-01-01

    In Marfan syndrome, aneurysmatic enlargement of ascending aorta and dissection starting at the root are the most common cardiovascular complications. We present an infrequent case of a 15-year-old patient with a typical case of Marfan syndrome. CT disclosed an aorta and aortic arch of normal size with dissection originating distally with respect to the point where left subclavian artery arises. The disecction extended to descending aorta and to iliac and femoral arteries. Aortic rupture occurred in the arch, with massive hemothorax. The CT findings were confirmed at necropsy. 9 refs

  6. Sinus node dysfunction in ATX-II-induced in-vitro murine model of long QT3 syndrome and rescue effect of ranolazine.

    Science.gov (United States)

    Wu, Jingjing; Cheng, Longxian; Lammers, Wim J; Wu, Lin; Wang, Xin; Shryock, John C; Belardinelli, Luiz; Lei, Ming

    2008-01-01

    The aim of this study was to characterize the role of the late Na+ current (I(Na,L)) as a mechanism for induction of both tachy and bradyarrhythmias in murine heart and sino-atrial node tissue. The sea anemone toxin ATX-II and ranolazine were used to increase and inhibit, respectively, I(Na,L). In sixteen hearts studied, exposure to 1-10nM ATX-II caused a slowing of intrinsic heart rate and prolongations of the P-R and QT intervals, the duration of the monophasic action potential, and the sinus node recovery time, accompanied by frequent occurrences of early after depolarisations, delayed after depolarisations and rapid, repetitive ventricular tachy and sino-atrial bradyarrhythmias. ATX-II also slowed sinus node pacemaking, and induced bradycardic arrhythmias in isolated sino-atrial preparations (n=5). The ATX-II-induced alteration of electrophysiological properties and occurrence of arrhythmic events were significantly attenuated by 10 microM ranolazine in intact hearts (n=11) and isolated sino-atrial preparations (n=5). In conclusion, the I(Na,L) enhancer ATX-II causes both tachy and bradyarrhythmias in the murine heart, and these arrhythmias are markedly attenuated by the I(Na,L) blocker, ranolazine (10 microM). The results suggest that I(Na,L) blockade may be the mechanism underlying the reductions of both brady and tachyarrhythmias by ranolazine that were observed during the MERLIN-TIMI clinical outcomes trial.

  7. Ocular Manifestations of Bilateral Ethmoidal Sinus Mucopyocele: Case Report

    Directory of Open Access Journals (Sweden)

    Özge Saraç

    2011-10-01

    Full Text Available Mucoceles of the paranasal sinuses are slowly growing, epithelium-lined cystic lesions with sterile content. When the mucocele content becomes infected with a bacterial super-infection, the lesion is defined as mucopyocele. Mucoceles or mucopyoceles are commonly located in the frontal and anterior ethmoidal sinuses and can manifest with ocular signs and symptoms, mostly proptosis. In this report, we demonstrate a case of bilateral ethmoidal mucopyocele in a 53-year-old female who presented with reduced vision, diplopia, and proptosis. Computed tomography (CT scanning of the paranasal sinuses revealed cystic lesions filling the maxillary sinuses and anterior ethmoidal cells bilaterally and causing erosion in the walls of the sinuses. After marsupialization of the mucopyoceles was performed by endoscopic sinus surgery, the symptoms of the patient recovered rapidly. (Turk J Ophthalmol 2011; 41: 354-6

  8. Diffuse large B-cell lymphoma of stomach presenting with paraneoplastic cerebellar degeneration syndrome.

    Science.gov (United States)

    Nomani, Ali Zohair; Wazir, Marina; Kashmir, Saba Binte; Qureshi, Muhammad Saleem

    2014-03-01

    Paraneoplastic syndromes are most often diagnosed in the setting of a known malignancy. It is not uncommon for a paraneoplastic disorder to develop before a cancer is identified. While syndrome of cerebellar degeneration has been identified as a paraneoplastic manifestation of Hodgkin's lymphoma, thymoma, lung and breast cancer, ovarian and testicular tumors, melanoma, renal cell carcinoma, follicular lymphoma and adenocarcinoma of stomach, its association with non-Hodgkin's lymphoma and particularly diffuse large B-cell lymphoma has not been established previously. This case report describes the primary presentation with signs of paraneoplastic cerebellar degeneration as the only manifestation of an underlying diffuse large B-cell lymphoma making it the first of its kind to be formally reported. Furthermore, it also includes the identification of associated paraneoplastic antibodies for this particular syndrome.

  9. [Dragged disc syndrome in a patient presenting neurofibromatosis type II: a case study].

    Science.gov (United States)

    Gicquel, J-J; Vabres, P; Mercié, M; Klossek, J-M; Dighiero, P

    2005-05-01

    We report a case of dragged disc syndrome associated with neurofibromatosis type II (NF2). A 5-year-old girl with amblyopia (right eye, 20/200; left eye, 20/40) presented with dragged disk syndrome and a posterior subcapsular cataract in the left eye associated with an epiretinal membrane in the right eye. Five years later, she developed exophthalmos in the right eye associated with a cervical mass. MRI revealed schwannoma developing in the left optic nerve sheath associated with a cervicothoracic schwannoma. The child was diagnosed with NF2. Association of posterior subcapsular cataract with macular epiretinal membranes is highly suggestive of NF2, although the dragged disk syndrome has not been previously reported in NF2 to our knowledge. It may also be an ocular feature of this disease.

  10. The prevalence of turner syndrome in girls presenting with coarctation of the aorta.

    Science.gov (United States)

    Wong, Sze Choong; Burgess, Trent; Cheung, Michael; Zacharin, Margaret

    2014-02-01

    To determine the prevalence of Turner syndrome in girls presenting with coarctation of the aorta (CoA). A total of 132 girls with known structural CoA was identified. Those girls who had no previous karyotype analysis performed were asked to participate in a research study in which a banded karyotype with 50-cell count was performed. Of 132 girls with CoA, 55 (41.7%) had karyotype analysis within 6 months of cardiac diagnosis. Three girls underwent karyotyping later because of clinical concerns. Of the 74 girls with CoA who had not had a karyotype, 38 (51.4%) consented to the study. Results were available for 37 girls. All were 46,XX. Five patients with Turner syndrome were identified in the 95 girls with CoA who had karyotype analysis (4 from early karyotype and 1 diagnosed later), which translated into a minimum prevalence of 5.3% of Turner syndrome in this group of girls with CoA. In addition, one infant with a 20-cell 46,XX karyotype had features of Turner syndrome. Our study demonstrated for the first time in a large cohort that 5.3% of girls presenting with CoA are found to have Turner syndrome when karyotyping is performed. Given the spectrum of preventable and treatable health problems after the diagnosis of Turner syndrome, we believe that all girls with CoA should have a karyotype analysis, ideally with at least 50-cell count, at the time of diagnosis of CoA. Copyright © 2014 Mosby, Inc. All rights reserved.

  11. Complication of nose and paranasal sinus disease

    International Nuclear Information System (INIS)

    Kazmi, H.S.; Ali, S.; Ali, Z.

    2012-01-01

    Diseases of nose and paranasal sinuses can complicate to involve the orbit and other surrounding structures because of their close proximity. These diseases are usually infective or can be neoplastic in origin. Method: All the patients presenting in ENT or Eye Departments of Ayub Teaching Hospital during the one year study period who had complicated nose or paranasal sinus disease were included in the study. A detailed history and examination followed by CT scanning and laboratory investigations to assess the type and extent of the disease, was carried out. Results: Infections were the most common cause of complicated sinus disease 11 (75%). The rest of the 4 (25%) cases were tumours. 12 (80%) of the cases presented with proptosis. In 1 of these 12 cases, there was complete blindness. In 2 (13%) of the cases there was only orbital cellulitis. Two of these patients had facial swelling and 2 had nasal obstruction and presented as snoring. Two patients presented with history of weight loss and these patients had malignant tumour of the paranasal sinuses. One patient presented with early signs of meningitis. In 1 case sub periosteal scalp abscess (Pott's puffy tumour) was the only complication noted. Conclusion: Nose and paranasal sinus diseases can complicate to involve mostly the orbit, but sometimes brain, meninges and skull bones can also get involved. (author)

  12. Trichomonal sinusitis in an adolescent patient with multiple trauma.

    Science.gov (United States)

    Oud, Lavi

    2009-03-01

    Trichomonal disease typically involves the genital and occasionally respiratory tracts. Although exposure of the upper respiratory tract to infected genital secretions is not uncommon with contemporary sexual practices, trichomonal sinus disease has been rarely described. The present report describes the case of a healthy 17-year-old male admitted to an intensive care unit following multiple trauma, who developed purulent sinusitis on the 4th day of hospitalization. Numerous trichomonads were noted on microscopic examination of sinus aspirate. Further investigation revealed orofacial sexual exposure of the patient to a partner with trichomoniasis. The patient's sinusitis resolved following a course of parenteral metronidazole-containing antibiotics.

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

    Science.gov (United States)

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

    2011-02-02

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

  14. Isolated sphenoid sinusitis: a case report | Okhakhu | Annals of ...

    African Journals Online (AJOL)

    Isolated sphenoid sinusitis is an uncommon disease with vague symptoms which can be associated with a myriad of neuro-ophthalmic complications. We present the case of a 54 year old man who presented with headache and blindness as a result of undiagnosed isolated sphenoid sinus disease. Keywords: Isolated ...

  15. Recurrent sinus pericranii in a 14-year-old boy.

    Science.gov (United States)

    Brown, J A; Woldenberg, L; Velasco, M E

    1987-01-01

    A case of symptomatic and recurrent sinus pericranii in a 14-year-old boy is presented. A blood-filled cyst was diagnosed after head trauma. The sinus pericranii was surgically removed. One year later the patient presented with blurred vision, headaches, and recurrence at a different site in the skull.

  16. [Dental-radical cysts, a rare aetiology of maxillary sinus opacity].

    Science.gov (United States)

    Bassou, D; Darbi, A; Elkharras, A; Elhaddad, A; Boumdin, H; Amil, T; Benameur, M; Chaouir, S

    2007-12-01

    To specify CT scan roll in diagnosis of radicullar cyst invading maxillary sinus. Two cases of 23 and 34-year-old men presented with facial injury and sinusitis was explored by CT scan. CT scan showed in both patients a cystic lesion, developing into the maxillary sinus around a tooth apex and limits by a double dense thin rim. CT scan permits diagnosis of radicular cyst invading maxillary sinus, in the event of obscured maxillary sinus, when double dense thin rim corresponding to the repulsed wall of the sinus is looking.

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

    Directory of Open Access Journals (Sweden)

    Saime Paydas

    2015-01-01

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

  18. Case Report: Ehlers-Danlos Syndrome in an adolescent presenting with Chronic Daily Headache

    OpenAIRE

    Walter, Suzy Mascaro

    2014-01-01

    Background: Classic Ehlers-Danlos syndrome (EDS) is a connective tissue disorder characterized by skin hyperextensibility, skin fragility as well as joint hypermobility. EDS has been associated with psychiatric disorders, fatigue, dizziness, musculoskeletal pain, and stomach pain that are common complaints associated with adolescent chronic daily headache (CDH). This case report discusses an adolescent who presents with CDH and is subsequently diagnosed with EDS based upon the presenting symp...

  19. A Case of Hypereosinophilic Syndrome Presenting with Multiorgan Thromboses Associated with Intestinal Obstruction

    Directory of Open Access Journals (Sweden)

    Tao Sui

    2013-09-01

    Full Text Available Idiopathic hypereosinophilic syndrome (HES is a disease characterized by persistent hypereosinophilia (>1.5×109/L for more than 6 months in the absence of other causes of reactive eosinophilia. Patients with HES presenting with multiorgan thromboses are rare. Herein we report a 57-year-old man with HES who presented with deep venous thrombosis of the lower extremities, portal thrombosis, pulmonary embolism, and mesenteric venous thrombosis, which led to intestinal obstruction.

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

    OpenAIRE

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

    2013-01-01

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

  1. A case report of Parry Romberg Syndrome initially presenting as periodontitis

    OpenAIRE

    Taylor, Greig; Culshaw, Shauna; Armas, Jose; Savarrio, Lee; Goodall, Christine

    2017-01-01

    Parry Romberg Syndrome (PRS) is a rare disorder of progressive hemifacial atrophy, involving soft tissues, fat and occasionally bone. It can co-exist with presentations of Morphea. We describe an unusual case of persistent periodontal and alveolar destruction associated with PRS. A 56-year-old African female initially presented with persistent periodontal destruction, which showed minimal response to conventional periodontal treatment. After non-surgical treatment, surgical debridement follow...

  2. Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death.

    Directory of Open Access Journals (Sweden)

    Michael V Zaragoza

    Full Text Available The goals are to understand the primary genetic mechanisms that cause Sick Sinus Syndrome and to identify potential modifiers that may result in intrafamilial variability within a multigenerational family. The proband is a 63-year-old male with a family history of individuals (>10 with sinus node dysfunction, ventricular arrhythmia, cardiomyopathy, heart failure, and sudden death. We used exome sequencing of a single individual to identify a novel LMNA mutation and demonstrated the importance of Sanger validation and family studies when evaluating candidates. After initial single-gene studies were negative, we conducted exome sequencing for the proband which produced 9 gigabases of sequencing data. Bioinformatics analysis showed 94% of the reads mapped to the reference and identified 128,563 unique variants with 108,795 (85% located in 16,319 genes of 19,056 target genes. We discovered multiple variants in known arrhythmia, cardiomyopathy, or ion channel associated genes that may serve as potential modifiers in disease expression. To identify candidate mutations, we focused on ~2,000 variants located in 237 genes of 283 known arrhythmia, cardiomyopathy, or ion channel associated genes. We filtered the candidates to 41 variants in 33 genes using zygosity, protein impact, database searches, and clinical association. Only 21 of 41 (51% variants were validated by Sanger sequencing. We selected nine confirmed variants with minor allele frequencies G, a novel heterozygous splice-site mutation as the primary mutation with rare or novel variants in HCN4, MYBPC3, PKP4, TMPO, TTN, DMPK and KCNJ10 as potential modifiers and a mechanism consistent with haploinsufficiency.

  3. Systematic review of endovascular therapy for nutcracker syndrome and case presentation.

    Science.gov (United States)

    Quevedo, Henry C; Arain, Salman A; Abi Rafeh, Nidal

    2014-01-01

    The left renal vein (LRV) entrapment syndrome is a rare condition. Here, we present a 22-year-old female presenting with recurrent nausea, vomiting, weight loss and evidence of the LRV compression by the superior mesenteric artery and the abdominal aorta. Hemodynamic assessment confirmed a pressure gradient of >3 mmHg between the LRV and the inferior vena cava. A self-expandable stent was then deployed in the LRV. Subsequent clinical follow-ups ensure full resolution of the patient's symptoms. Multilingual search was performed in PubMed, Google scholar, Scielo, Korea Med and EMBASE with the medical subheadings "nutcracker syndrome", "nutcracker phenomenon" and "compression vein syndrome" from January 1983 to September 2013. Review of the literature exhibited a plethora of individual case reports (291 citations). Importantly, few retrospective case series [5] comprising a total of 157 patients included successful endovascular interventions. Endovascular therapy for nutcracker syndrome represents a safe and suitable treatment option, but prospective studies are needed to confirm these data. Copyright © 2014 Elsevier Inc. All rights reserved.

  4. Occipital Sinus Thrombosis: An Exceptional Case Report.

    Science.gov (United States)

    Beyrouti, Rahma; Mansour, Malek; Kacem, Amel; Zaouali, Jamel; Mrissa, Ridha

    2016-06-01

    Variations of the dural venous sinuses may result in inaccurate imaging interpretation or complications during surgical approaches. One variation of the dural venous sinuses reported infrequently in the literature is the occipital sinus. We report an exceptional case of occipital sinus thrombosis. A 48-year-old right-handed man with a 5-month history of hypertension and chronic renal failure presented with cephalalgia, vomiting, and blurred vision evolving over 48 hours. Neurological examination revealed papillary edema stage 1 with no others abnormalities. An initial brain computed tomography (CT) scan performed was normal. The opening pressure of cerebrospinal fluid (CSF) was 35 cmH2O with normal level of protein and no hypercellularity in CSF analysis. The evolution was marked by the occurrence of generalized tonic-clonic seizure. A second CT scan performed showed a hyperdensity of the occipital sinus. Magnetic resonance imaging and magnetic resonance venography studies confirmed the diagnosis with highlighting the thrombosis of the occipital sinus in association to an ectasia of the torcular. The patient received adequate anticoagulation for 6 months in association to antiepileptic drugs with a good evolution. According to our review, such a thrombosis must be a rare condition, because our literature search has shown a lack of any report describing this condition. Herein, we review the anatomy of the occipital sinus and we illustrate the characteristics of this unusual thrombosis with multiple imaging modalities. Understanding of the cerebral venous anatomy and recognition of venous variations essentially help when dealing with a pathology, which presents along with a particular venous variation, no matter how rare this combination is. Copyright © 2016 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  5. Resposta do ACTH plasmático ao estímulo com CRH ou CRH + desmopressina em pacientes com síndrome de Cushing ACTH- dependente submetidos a cateterismo bilateral simultâneo dos seios petrosos inferiores Response of plasmatic ACTH to CRH or combined CRH/desmopressin stimulation in patients with ACTHdependent Cushing's syndrome submitted to simultaneous bilateral petrosal sinuses sampling

    Directory of Open Access Journals (Sweden)

    Daniella Maria Carneiro do Rêgo

    2007-12-01

    women and 7 men - diagnosed with ACTH-dependent Cushing's syndrome in the period between January 1998 and December 2003. Upon catheterization of both inferior petrosal sinuses, blood samples for ACTH test were simultaneously collected from the petrosal sinuses and peripheral vein, both in the basal state and three to five minutes after injection of human CRH (100 mg (six patients, or combined CRH/desmopressin (100 mg + 10 mg (15 patients. RESULTS: After three minutes, both groups presented increased ACTH levels: CRH (257.77 ± 240.36 in the right petrosal sinus, and 718.78 ± 1358.82 in the left petrosal sinus [mean ± standard error]; combined CRH/desmopressin (1263.35 ± 1842.91 in the right petrosal sinus [p = 0.06], and 583.93 ± 1020.03 in the left petrosal sinus [p = 0.83]. After five minutes, the ACTH levels decreased in the group with CRH (181.07 ± 217.39 in the right petrosal sinus, and 188.25 ± 270.15 in the left petrosal sinus, and presented a progressive increase in the group with combined CRH/desmopressin (1365.29 ± 1832.31 in the right petrosal sinus [p = 0.03], and 866.43 ± 1431.72 in the left petrosal sinus [p = 0.11]. Gradient was absent in the three patients with ectopic secretion. CONCLUSION: Combined CRH/desmopressin stimulation induced a higher production of ACTH in cases of corticotroph adenomas as compared with CRH stimulation, which can improve the diagnostic sensibility of this procedure.

  6. Radiation-induced leiomyosarcoma of the great vessels presenting as superior vena cava syndrome

    International Nuclear Information System (INIS)

    Weiss, K.S.; Zidar, B.L.; Wang, S.

    1987-01-01

    A patient with a pleomorphic intravascular leiomyosarcoma of the great vessels of the neck and mediastinum presented clinically with a superior vena cava syndrome. A latent period of 29 years elapsed between receiving orthovoltage radiation to the neck and right side of chest to treat recurrent ganglioneuroblastoma, and the appearance of a leiomyosarcoma and subsequent recurrences. The patient underwent partial resection of the tumor, received adjunct chemotherapy, and was shown to be free of disease by clinical tests and by magnetic resonance imaging (MRI) 17 months after completion of chemotherapy. The criteria for the diagnosis of radiation-induced sarcomas are reviewed in relation to the present case. The critical role of magnetic resonance imaging in both the diagnosis and continued follow-up of the patient is described. This would appear to be the first reported case of radiation-induced intravascular leiomyosarcoma of the great vessels of the neck and mediastinum presenting as a superior vena cava syndrome

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

    LENUS (Irish Health Repository)

    2012-01-31

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

  8. Maxillary sinus augmentation

    Directory of Open Access Journals (Sweden)

    A B Tarun Kumar

    2015-01-01

    Full Text Available Placing dental implants in the maxillary posterior region can be both challenging and un-nerving for a regular implant dentist who is not well versed with advanced surgical procedures. It is vital for a general dentist to understand the fundamentals of bone grafting the maxillary sinus if he/she is really committed to providing the best health care for their patients. The dental practice is seeing an increasing group of patients who are living longer, and this group of older baby boomers often has an edentulous posterior maxilla either unilateral or bilateral. When edentulous, the posterior maxilla more likely has diminished bone height, which does not allow for the placement of dental implants without creating additional bone. Through grafting the maxillary sinus, bone of ideal quality can be created (allowing for placement of dental implants, which offer many advantages over other tooth replacement modalities. The sinus graft offers the dental patient a predictable procedure of regenerating lost osseous structure in the posterior maxilla. This offers the patient many advantages for long-term success. If dentists understand these concepts, they can better educate their patients and guide them to have the procedure performed. This article outlines bone grafting of the maxillary sinus for the purpose of placing dental implants. This review will help the readers to understand the intricacies of sinus augmentation. They can relate their patient's condition with the available literature and chalk out the best treatment plan for the patient, especially by using indirect sinus augmentation procedures which are less invasive and highly successful if done using prescribed technique.

  9. MRI of maxillary sinuses

    International Nuclear Information System (INIS)

    Ozawa, Kaoru

    1993-01-01

    A mucous membrane of the maxillary sinus is clinically important in the dental fields. Magnetic resonance imaging (MRI) can demonstrate a mucous membrane because the mucosa contains rich free water. However, the morphology and location of the mucous membrane of normal maxillary sinuses have not been studied well by MRI. T2-weighted coronal images were obtained by spin echo technique in 40 normal volunteers. The eight maxillary sinuses were classified into four groups (Type 1∼IV) according to the morphology and also classified into five groups (Type a, b1, b2, b3, c) according to the location of the mucous membrane. Coronal images obtained at a standard angle of 77 degree to the Frankfort horizontal (FH) plane was the best for the evaluation of maxillary sinus because the image displayed the maximum cross-section of the maxillary sinus. In the normal cases, Type I (no high signal intensity) was observed in 20 sites, Type II (linear high signal intensity) in 48 sites, Type III (belt-like high signal intensity) in 11 sites and Type IV (mass-like high signal intensity) in 1 site. Type a (medial∼basal wall) was observed in 46 sites, Type b1 (medial wall alone) in 4 sites, Type b2 (basal wall alone) in 8 sites and Type c (entire wall) in 2 sites. Half of the cases showed the same findings bilaterally. Thus, MRI could demonstrate the morphology and location of the mucous membrane in the normal maxillary sinus so clearly that MRI was considered to be a useful diagnostic tool in the dento-maxillo-facial region. (author)

  10. Sigmoid sinus thrombosis presenting with posterior alexia in a patient with Behçet's disease and polycythaemia: a case report

    OpenAIRE

    Thomas, P; Keightley, A; Kamble, R; Gunasekera, N; Johnson, MR

    2008-01-01

    Abstract Introduction A 59-year-old Caucasian woman presented with an acute onset of alexia, noticed whilst driving. She described how while she could read car number plates, she had lost the ability to read and understand words on roadside advertisements and car window stickers. Case presentation Neurological examination was unremarkable apart from the inability to read full words or sentences. Imaging of the brain, initially computed tomography, followed by magnetic resonance venography, co...

  11. Sixth nerve palsy + ipsilateral Horner's Syndrome = Parkinson's Syndrome.

    Science.gov (United States)

    Ebner, Roberto N; Ayerza, Dolores Ribero; Aghetoni, Fernando

    2015-01-01

    To present five patients with VIth nerve palsy and ipsilateral Horner's Syndrome (HS), as a result of cavernous sinus alteration. Consecutive case series. Five patients presented abducens palsy with horizontal diplopia (3 in primary position and 2 in lateral gaze only) and ipsilateral HS. Apraclonidine 0.5% drops evidenced sympathetic denervation in all patients 40-60 min after instillation. All 5 cases had neuroimages (MRI in 3 cases, Computerized Tomography - CT in one case and Magnetic Resonance Angiography - MRA in one case) demonstrating cavernous sinus lesions; 2 meningiomas, 1 carotid-cavernous aneurism, 1 foreign body (bullet) and 1 squamous cell carcinoma. Lesions on the cavernous sinus need to be considered in cases of abducens nerve palsy and ipsilateral Horner's Syndrome.

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

    Science.gov (United States)

    Meena, Veena; Bansal, Charu Lata

    2016-10-01

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

  13. Transnasal Marsupialization Using Endoscopic Sinus Surgery for Treatment of Keratocystic Odontogenic Tumor in Maxillary Sinus

    Directory of Open Access Journals (Sweden)

    Masafumi Ohki

    2012-01-01

    Full Text Available Objective. We report the first utilisation of transnasal marsupialization to treat a keratocystic odontogenic tumor in the maxillary sinus of a 37-year-old man. Case Report. A 37-year-old man presented with a nasal discharge and right odontalgia. Computed tomography revealed an expanding cystic lesion with a calcificated wall containing an impacted tooth in the right maxillary sinus. The diagnosis was keratocystic odontogenic tumor. Transnasal marsupialization was performed using endoscopic sinus surgery to enlarge the maxillary ostium and remove a portion of the cystic wall. Pathological findings included lining squamous epithelium and inflammation. The remaining tumor shrank, becoming free of infection after surgery, without proliferation. Conclusion. Transnasal marsupialization using endoscopic sinus surgery is effective in treating keratocystic odontogenic tumors. It offers minimal surgical invasion and reductive change, making it advantageous for complete removal with fewer complications in the bones and surrounding tissue in the case of secondary surgery.

  14. A rare presentation of gastric outlet obstruction (GOO) - The Bouveret's syndrome.

    Science.gov (United States)

    Kalwaniya, Dheer Singh; Arya, S V; Guha, Soumya; Kuppuswamy, Manigandan; Chaggar, Jasneet G; Ralte, Lalmalsamwe; Chejera, Rajkumar; Sharma, Ashok

    2015-03-01

    Bouveret's Syndrome is a rare cause of Gastric outlet obstruction (GOO) caused by a gall stone which has migrated into the duodenal bulb from a bilioduodenal fistula. It is an uncommon condition and only a few cases have been reported in the medical literature till to date. We report a case of a 45 year old woman who presented to us with recurrent pain in the upper abdomen for the last 8 years, and that progressed to develop symptoms of gastric outlet obstruction. An upper gastrointestinal endoscopy revealed duodenal ulceration with a stony hard lesion in the first part of duodenum. An contrast enhanced computed tomography (CECT) scan of the abdomen performed later confirmed the presence of cholecystoduodenal fistula and a gall-stone in proximal jejunum. Bouveret's syndrome is a case of gastric outlet obstruction caused by the impaction of a large gall stone in the duodenum as a result of a cholecystoduodenal fistula. It constitutes 1-3% of cases of gall stone ileus which in turn complicates only 0.3-4% cases of cholelithisasis. Bouveret's syndrome is managed surgically. Bouveret's syndrome being an uncommon condition may pose a difficulty in diagnosis and dilemma in managing such patients. An awareness is hence essential.

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

    Directory of Open Access Journals (Sweden)

    Dasgupta S

    2008-01-01

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

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

    Science.gov (United States)

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

    2012-09-01

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

  17. A patient with cystinosis presenting like bartter syndrome and review of literature.

    Science.gov (United States)

    Ertan, Pelin; Evrengul, Havva; Ozen, Serkan; Emre, Sinan

    2012-12-01

    Nephropathic cystinosis is an autosomal recessively inherited metabolic disorder presenting with metabolic acidosis, Fanconi syndrome and renal failure. We present a 6-year-old girl with severe growth failure, hyponatremia and hypokalemia. Her parents were 4(th) degree relatives. Two relatives were diagnosed as end stage renal failure. She also had persistant hypokalemic hypochloremic metabolic alkalosis. Her renal function was normal at presentation. She was thought to have Bartter syndrome with supporting findings of elevated levels of renin and aldosterone with normal blood pressure, and hyperplasia of juxtaglomerular apparatus. Her metabolic alkalosis did not resolve despite supportive treatment. At 6(th) month of follow-up proteinuria, glucosuria and deterioration of renal function developed. Diagnosis of cystinosis was made with slit lamp examination and leukocyte cystine levels. At 12(th) month of follow-up her metabolic alkalosis has converted to metabolic acidosis. In children presenting with persistant metabolic alkalosis, with family history of renal failure, and parental consanguinity, cystinosis should always be kept in mind as this disease is an important cause of end stage renal failure which may have features mimmicking Bartter syndrome.

  18. When Sinuses Attack! (For Kids)

    Science.gov (United States)

    ... to flow out of the sinuses When the tiny openings that drain the sinuses get blocked, mucus becomes trapped in the sinuses. Like water in a stagnant pond, it makes a good home for bacteria, viruses, or fungi to grow. If ...

  19. Fibrous dysplasia of the ethmoid sinus.

    Science.gov (United States)

    Tsai, Tung-Lung; Ho, Ching-Yin; Guo, Yuan-Ching; Chen, Winby; Lin, Ching-Zong

    2003-02-01

    Although craniofacial bone is the second common site of fibrous dysplasia involvement, it is rarely found in the paranasal sinus. Among fibrous dysplasia of the head and neck, the maxilla and mandible are the most frequent sites to be involved. Fibrous dysplasia becomes dormant in adolescence and early adult life and is more common in female. It is one of the fibrous osseous lesions and should be differentiated from osteoma and ossifying fibroma. Radiographically, fibrous dysplasia showed "groundglass" bone appearance on CT scans with bone window. Histopathologically, it presents woven-type bone embedded in a cellular fibrous stroma without osteoblastic rimming. We presented a case of 25-year-old female with fibrous dysplasia in her right side ethmoid sinus. She visited to us with the chief complaint of right side headache since adolescence. The lesion was removed by endoscopic sinus surgery and pathology proved fibrous dysplasia. The patient was free of headache after operation. The advance of endoscopic sinus surgical technique, makes it an optimal method for the pathological diagnosis and treatment to avoid the cosmetic problems caused by external approach in limited paranasal sinus fibrous osseous lesions.

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

    Directory of Open Access Journals (Sweden)

    Lin Da Aw

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

  1. A Rare Case of Mayer-Rokitansky-Kuster-Hauser Syndrome Presenting with Acute Psychosis.

    Science.gov (United States)

    Nath, Kamal; Boro, Bhanita; Naskar, Subrata

    2016-04-01

    The psychiatric co-morbidities in female population with mullerian agenesis is an area with limited research. This is probably due to the fact that when those patients are diagnosed not much attention or information is given for long term psychiatric follow-up. Owing to their inability to bear children, these subjects often become socially harassed. Thus these constant stressors may lead to development of psychopathology in future. Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a congenital abnormality with absence of uterus, cervix and vagina, but normal secondary sexual characteristics and external genitalia and occurs in every 1 out of 4000-10,000 females. There is also limited literature on the probable common chromosomal aetiology for both psychosis and MRKH patients. We, present here a case of MRKH syndrome, whose initial presentation was psychosis only. In this respect, we also highlight the much neglected need of appropriate psychiatric screening and provision of psychiatric care in this population.

  2. Posterior Reversible Encephalopathy Syndrome in Pediatric Hematologic-Oncologic Disease: Literature Review and Case Presentation

    Science.gov (United States)

    ARZANIAN, Mohammad Thaghi; SHAMSIAN, Bibi Shahin; KARIMZADEH, Parvaneh; KAJIYAZDI, Mohammad; MALEK, Fatima; HAMMOUD, Mohammad

    2014-01-01

    Objective Posterior reversible encephalopathy syndrome (PRES) is a cliniconeuroradiological disease entity, which is represented by characteristic magnetic resonance imaging (MRI) findings of subcortical/cortical hyperintensity in T2-weighted sequences. It is more often seen in parietaloccipital lobes, and is accompanied by clinical neurological changes. PRES is a rare central nervous system (CNS) complication in patients with childhood hematologic-oncologic disese and shows very different neurological symptoms between patients, ranging from numbness of extremities to generalized seizure. In this article, we will review PRES presentation in hematologic-oncologic patients. Then, we will present our patient, a 7-year-old boy with Evans syndrome on treatment with cyclosporine, mycophenolate mofetil (MMF) and prednisone, with seizure episodes and MRI finding in favour of PRES. PMID:24949044

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

    Directory of Open Access Journals (Sweden)

    Sreeramulu B

    2015-07-01

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

  4. Undiagnosed Sjögren’s Syndrome Presenting as Mesenteric Panniculitis

    Directory of Open Access Journals (Sweden)

    Rebecca L. Burns

    2016-01-01

    Full Text Available Mesenteric panniculitis is a rare inflammatory and fibrotic process that affects the small intestine mesentery. It may occur following abdominal surgery or in association with a variety of conditions, including malignancy, infection, and certain autoimmune and inflammatory conditions. Herein, an unusual case of mesenteric panniculitis in a patient with primary Sjögren’s syndrome will be presented. The patient presented with abdominal pain, weight loss, sicca symptoms, fatigue, and arthralgia. An abdominal CT revealed mesenteric fat stranding and prominent lymph nodes of the small intestine mesentery. She was found on laboratory workup to have positive antinuclear and anti-SSa antibodies. Minor salivary gland lip biopsy revealed focal lymphocytic sialadenitis. The patient’s symptoms and CT findings improved with corticosteroids. This case suggests that Sjögren’s syndrome should be considered as an underlying disease process in the evaluation of patients with mesenteric panniculitis.

  5. Abdominal pain and syndrome of inappropriate antidiuretic hormone secretion as clinical presentation of acute intermittent porphyria.

    Science.gov (United States)

    Valle Feijóo, M L; Bermúdez Sanjurjo, J R; González Vázquez, L; Rey Martínez, M; de la Fuente Aguado, J

    2015-01-01

    Acute intermittent porphyria (AIP) is a rare condition characterized by abdominal pain and a wide range of nonspecific symptoms. We report the case of a woman with abdominal pain and syndrome of inappropriate antidiuretic hormone secretion (SIADH) as clinical presentation of AIP. The diagnosis was achieved through the etiologic study of the SIADH. Copyright © 2015 Elsevier España, S.L.U. y Sociedad Española de Medicina Interna (SEMI). All rights reserved.

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

    Directory of Open Access Journals (Sweden)

    Amit Pandey

    2012-01-01

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

  7. Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome.

    Science.gov (United States)

    Vengalil, Seena; Preethish-Kumar, Veeramani; Polavarapu, Kiran; Christopher, Rita; Gayathri, Narayanappa; Natarajan, Archana; Manjunath, Mahadevappa; Nashi, Saraswati; Prasad, Chandrajit; Nalini, Atchayaram

    2017-11-01

    Fatty acid oxidation disorders presenting as primary myopathy is relatively rare and also diagnostically challenging. Its association with "dropped head syndrome" is reported till date in single cases of carnitine deficiency and multiple acyl CoA dehydrogenase deficiency (MADD).We studied nineteen cases of primary progressive myopathy confirmed to have fatty acid oxidation defects by Tandem Mass Spectrometry. The detailed clinical, muscle histopathology, tandem mass spectrometry and muscle magnetic resonance imaging (MRI) findings are presented here. The fatty acid oxidation defects identified were sub-grouped into: medium chain acyl CoA dehydrogenase deficiency (MCAD) = 4; very long chain acyl CoA dehydrogenase deficiency (VLCAD) = 7; MADD = 6; carnitine uptake defect and short chain acyl CoA dehydrogenase (SCAD) deficiency = 1 each. The age at onset for MCAD, VLCAD and MADD ranged from 11.5 to 15, 8 to 17 and 10 to 38 years respectively. The patients with carnitine uptake defect and SCAD had onset at 29 and 15 years of age. The dominant symptoms were exertion induced myalgia and progressive proximal limb weakness in all. 12/19 (63.2%) had classical dropped head syndrome. Ptosis and bulbar weakness were present in a few cases. This study emphasizes that fatty acid oxidation disorders presenting as primary myopathy are probably under diagnosed and should be entertained in the differential diagnosis of acute or chronic limb girdle syndromes. Hitherto, unreported we describe "dropped head syndrome" as a prominent phenomenon in MCAD and VLCAD. The presence of ptosis and bulbar weakness in fatty acid oxidation defects expands the clinical spectrum. Copyright © 2017 Elsevier B.V. All rights reserved.

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

    OpenAIRE

    Christensen Charlotte B; Nielsen Susanne D; Mortensen Bo K; Helweg-Larsen Jannik

    2011-01-01

    Abstract We report an unusual case of HIV-related immune reconstitution inflammatory syndrome, presenting as suspected AIDS-related lymphoma. Symptoms, initial investigations including fine-needle biopsy and 18F-FDG PET/CT scan were highly compatible with high grade AIDS-related lymphoma, however subsequently IRIS was diagnosed. We discuss pitfalls in the interpretation of diagnostic results in ARL versus IRIS.

  9. Mesangioproliferative glomerulonephritis in a patient with Kimura′s disease presenting as Nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Surendra Singh Rathore

    2015-01-01

    Full Text Available Kimura′s disease is a rare chronic eosinophilic inflammatory disorder of unknown etiology. Majority of cases have been reported from South East Asia, while sporadic occurrences have been reported worldwide, including the Indian subcontinent. Nephrotic syndrome may be the presenting manifestation of Kimura′s disease, and a variety of renal lesions are observed histologically in such patients. We herein describe a case of steroid-responsive mesangioproliferative glomerulonephritis related to kimura′s disease.

  10. Posture-dependent chronotropic effect of carotid sinus massage

    DEFF Research Database (Denmark)

    Møller, M; Oxhøj, H; Mickley, H

    1987-01-01

    The hypertensive carotid sinus can be divided into cardioinhibitory (chronotropic) and vasodepressor components; the former can be evaluated by carotid sinus massage performed in the supine position. We present the case of a patient in whom the abnormal cardioinhibitory response could only...

  11. Sinus Histiocytosis with Massive Lymphadenopathy | Sinclair-Smith ...

    African Journals Online (AJOL)

    Two cases of a recently described entity, 'sinus histiocytosis with massive lymphadenopathy,' occurring in Black males, are reported. Prominent cervical adenopathy was the main presenting feature in both. Histologically, these nodes were characterised by pronounced proliferation of sinus histiocytes which showed ...

  12. Evaluation and management of nosocomial sinusitis in Intensive ...

    African Journals Online (AJOL)

    Hence, an index of suspicion should be kept for nosocomial sinusitis in a case of pyrexia of unknown origin in ICU settings. Conclusion: Nosocomial sinusitis in ICU setting presenting with fever needs to be diagnosed early in patients having risk factors for this entity and should be managed aggressively to prevent life ...

  13. Left Fronto - Ethmoidal Sinusitis Complicated By A Contralateral ...

    African Journals Online (AJOL)

    Subdural abscess although very rare is one of the most frequently encountered intracranial complication of sinusitis.A case of contralateral subdural abscess is most unusual. This paper reports the management of a 14 year old male that presented with a left frontoethmoidal sinusitis complicated by a right subdural abscess.

  14. Anthropometrical Profiles Of The Frontal Sinus In Population Of ...

    African Journals Online (AJOL)

    The anthropometrical profiles, function and variation of frontal sinus have been poorly understood. Understanding these are important in sinus operation and in paleontology, to understand the puzzle of the meaning of the supra orbital development. In the present study radiographs of 74 males and 46 females of south east ...

  15. Trans-aortic repair of a sinus of valsalva aneurysm.

    Science.gov (United States)

    Kapetanakis, Emmanouil I; Ieromonachos, Constantinos; Stavridis, George; Antoniou, Theofani A; Athanassopoulos, George; Cokkinos, Dennis V; Alivizatos, Peter A

    2007-01-01

    Sinus of Valsalva aneurysms are rare and vary in their presentation and approach of surgical repair. We report on a case of isolated right sinus of Valsalva aneurysm that underwent successful excision and patch repair with individual sutures placed through the annulus of the aortic valve.

  16. Pulsatile tinnitus as the presenting symptom in a patient with posterior reversible encephalopathy syndrome.

    Science.gov (United States)

    Mohammed, Hassan; Briggs, Mayen; Phillips, John

    2016-09-01

    We present a case of posterior reversible encephalopathy syndrome (PRES) presenting with pulsatile tinnitus. We highlight the significance of a detailed neurological and cardiovascular assessment including the measurement of blood pressure in patients presenting with pulsatile tinnitus. Case presentation and literature review. One patient with undiagnosed PRES, who presented to our ear, nose and throat surgery department with pulsatile tinnitus is discussed. Symptoms, signs, investigations and treatments are presented. A literature review is also included. Pulsatile tinnitus can be the presenting symptom of neurovascular disorders, some of which might have serious sequelae if not treated promptly. Detailed neurological and cardiovascular history is recommended in addition to radiological investigations in patients presenting with pulsatile tinnitus.

  17. Anterior cutaneous nerve entrapment syndrome with pain present only during Carnett's sign testing: a case report.

    Science.gov (United States)

    Tanizaki, Ryutaro; Takemura, Yousuke

    2017-10-11

    The identification of anterior cutaneous nerve entrapment syndrome is often challenging, due to no widely accepted standard guidelines regarding laboratory and imaging tests for the diagnosis of ACNES. A 77-year-old Japanese man presented with mild lower abdominal pain that had been present for the past 3 years. Physical examination revealed no abdominal pain during palpation, with normal laboratory and imaging testing; therefore, conservative therapy was initiated. However, the abdominal pain continued. Re-examination 16 days later revealed three tender points in accordance with intercostal nerves Th10, Th11, and Th12, with the pain occurring only during Carnett's sign testing. A cutaneous injection of 1% lidocaine was administered, and the abdominal pain was resolved about 30 min later. Based on these results, anterior cutaneous nerve entrapment syndrome was diagnosed. It is sometimes hard to diagnose anterior cutaneous nerve entrapment syndrome without testing for Carnett's sign. If patients present with chronic abdominal pain, clinicians should test for Carnett's sign even if no pain is elicited during regular abdominal palpation.

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

    Directory of Open Access Journals (Sweden)

    Hennessy Michael J

    2008-02-01

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

  19. Primary presentation of Jeune's syndrome as gastric motility disorder in an infant: A case report

    Directory of Open Access Journals (Sweden)

    Amit Katyan

    2018-01-01

    Full Text Available We report a case of a 4-week-old female neonate with Jeune's asphyxiating thoracic dystrophy (JATD and coexistent situs anomaly, primarily presenting as gastric motility disorder. The child presented with abdominal distension and nonbilious vomiting since birth with failure to thrive. However, skeletal survey revealed JATD. Upper gastrointestinal contrast study showed situs inversus with delayed gastric emptying. Pyloric biopsy and intraoperative antro-duodenal manometry confirmed association of gastric motility disorder. Awareness of the unusual possibility of primary presentation of Jeune syndrome as gastric motility disorder will improve the management approach in such infants.

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

    Directory of Open Access Journals (Sweden)

    Amit Dangi

    2016-10-01

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

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

    Directory of Open Access Journals (Sweden)

    Ann C Gaffey

    2016-03-01

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

  2. Guyon's canal syndrome due to tortuous ulnar artery with DeQuervain stenosing tenosynovitis, ligamentous injuries and dorsal intercalated segmental instability syndrome, a rare presentation: a case report

    OpenAIRE

    Zeeshan, Muhammad; Ahmed, Farhan; Kanwal, Darakhshan; Khalid, Qazi Saad Bin; Ahmed, Muhammad Nadeem

    2009-01-01

    The Guyon's canal syndrome is a well known clinical entity and may have significant impact on patient's quality of life. We report a case of 43-year-old male who presented with complaints of pain and numbness in right hand and difficulty in writing for past one month. On imaging diagnosis of Guyon's canal syndrome because of tortuous ulnar artery was made with additional findings of DeQuervain's stenosing tenosynovitis and dorsal intercalated segmental instability syndrome with ligamentous in...

  3. Trastuzumab (Herceptin)-associated cardiomyopathy presented as new onset of complete left bundle-branch block mimicking acute coronary syndrome: a case report and literature review.

    Science.gov (United States)

    Tu, Chung-Ming; Chu, Kai-Ming; Yang, Shin-Ping; Cheng, Shu-Mung; Wang, Wen-Been

    2009-09-01

    Trastuzumab (Herceptin) is well documented in reducing suffering and mortality from breast cancer. The clinically most important side effect of Herceptin is cardiotoxicity, which is reported in 2.6% to 4.5% of patients receiving trastuzumab alone and in as many as 27% of patients when trastuzumab is combined with an anthracycline in metastatic disease. We reported the case of a 50-year-old woman who presented to our emergency department (ED) because of chest pain and shortness of breath. On physical examination, holosystolic murmur over apex could be heard. Pulmonary and abdominal examinations were unremarkable. Twelve-lead electrocardiography showed sinus tachycardia and new onset of complete left bundle-branch block. Emergent transthoracic echocardiography revealed generalized hypokinesia of left ventricle and akinesia over interventricular septum and apex. She subsequently underwent immediate coronary angiography that revealed normal coronary angiography, and left ventriculogram revealed generalized hypokinesia with severe left ventricle dysfunction with ejection fraction of 33%. During right heart catheterization and endomyocardial biopsy, cardiac tamponade developed and was successfully relieved by pericardial window. She was discharged event-free 3 weeks later with conservative treatment. Although new onset of complete left bundle-branch block in a patient with chest pain may be acute coronary syndrome, careful review of medicine history is mandatory to avoid unnecessary procedure and complications.

  4. A Rare Case of Tolosa-Hunt-Like Syndrome in a Poorly Controlled Diabetes Mellitus

    Directory of Open Access Journals (Sweden)

    Glenmore Lasam

    2016-01-01

    Full Text Available We report a case of a 50-year-old female with diabetes mellitus who presented with progressive second, third, fifth, sixth, and eighth cranial nerve palsy. Diagnostic investigation revealed hyperglycemic state, and brain imaging showed a right cavernous sinus enhancement suggestive of and consistent with Tolosa-Hunt syndrome. The patient was started on steroids with tight glycemic control for eight weeks; subsequently, the cranial nerve palsies resolved as well as documented resolution of the right cavernous sinus enhancement.

  5. Clinical evaluation of asymptomatic sinus disease detected by MRI

    International Nuclear Information System (INIS)

    Iwabuchi, Yasuo; Hanamure, Yutaka; Hirota, Johji; Ohyama, Masaru

    1994-01-01

    The detection of lesions of the paranasal sinuses as incidental findings during magnetic resonance imaging of patients suspected of intracranial disease who have no nasal symptoms has been far more common than we expected. The present study was performed on 325 patients with a mean age of 60.7 years. Medical histories were taken whether they had any nasal symptoms or not. Asymptomatic sinus disease was present in 41.6% of the 257 patients who had no nasal symptoms, and 9.7% of the patients had either marked mucosal thickening, excessive fluid or polyps in the maxillary sinuses. Although the mean age of these patients was comparatively high, we can infer that 1 in 10 have relatively severe sinus lesions. Mucociliary transport time was measured using the saccharin method in 15 patients who had sinus disease but no nasal symptoms. The mean transport time was 15.6 minutes and within normal limits. Routine ENT examination revealed no lesions in the nasal cavity of any of the subjects. We classified the patients with asymptomatic sinus disease into two groups -- group A: patients with sinus disease associated with some nasal manifestations but who did not complain about them, and group B: patients who had sinus disease but did not have any nasal problems. Group B represents genuine asymptomatic sinus disease in the narrow sense. Most asymptomatic patients in this study appeared to belong to group B. They had some sinus disease, but because their mucociliary function in their nasal cavity was normal, they did not have any nasal symptoms. When we find patients with asymptomatic sinus disease, we have to determine which group they belong to by examining their nasal cavity and measuring their saccharin time. Patients in group A should be medically treated, but those in group B should be followed without medical treatment. (author)

  6. Computed Tomography (CT) -- Sinuses

    Medline Plus

    Full Text Available Toggle navigation Test/Treatment Patient Type Screening/Wellness Disease/Condition Safety En Español More Info Images/Videos About Us News Physician Resources Professions Site Index A-Z Computed Tomography (CT) - Sinuses ...

  7. Computed Tomography (CT) -- Sinuses

    Medline Plus

    Full Text Available Toggle navigation Test/Treatment Patient Type Screening/Wellness Disease/Condition Safety En Español More Info Images/Videos ... thickened sinus membranes . detect the presence of inflammatory diseases. provide additional information about tumors of the nasal ...

  8. Maxillary Antrolith: A Rare Cause of the Recurrent Sinusitis

    Directory of Open Access Journals (Sweden)

    Vijendra Shenoy

    2013-01-01

    Full Text Available Introduction. An antrolith is a calcified mass within the maxillary sinus. The origin of the nidus of calcification may be extrinsic (foreign body in sinus or intrinsic (stagnant mucus and fungal ball. Most antroliths are small and asymptomatic. Larger ones may present as sinusitis with symptoms like pain and discharge. Case Report. We report a case of a 47-year-old lady who presented with heaviness on the left side of the face and loosening of the left 2nd molar tooth since two months. CT scan of the osteomeatal complex and paranasal sinuses showed an opacification of bilateral maxillary sinus and an amorphous area of bone density in the left maxillary sinus. Because of the size of the mass, benign neoplasms were considered in the differential diagnosis. During an endoscopic sinus surgery, it was found to be an antrolith, which was successfully managed by antrostomy and Caldwell-Luc Surgery. Discussion. Antrolith is a rare condition. Rhinoliths are known to invade into the maxillary antrum, but a localised lesion in the antrum is very unusual. A case of an isolated antrolith is presented for its rarity and for differential diagnosis of localised antral disease. Conclusion. Antrolith should be considered as differential diagnosis of unilateral radio-opaque paranasal sinus lesions.

  9. Cephalometric Analysis for Gender Determination Using Maxillary Sinus Index: A Novel Dimension in Personal Identification

    OpenAIRE

    Tanya Khaitan; Arpita Kabiraj; Uday Ginjupally; Ritika Jain

    2017-01-01

    Purpose. Radiography is important in forensic odontology for the identification of humans. The maxillary sinus is the largest of the paranasal sinuses and first to develop. Sinus radiography has been used for identification of skeletal remains and determination of gender. Hence, the aim and objectives of the present study were to establish a new method for gender determination using maxillary sinus index from lateral cephalometric radiographs and to establish the reliability of maxillary sinu...

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

    Science.gov (United States)

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

    2014-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Sonia Chhabra

    2017-01-01

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

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

    Science.gov (United States)

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

    2015-05-01

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

  13. Dry eyes and mouth syndrome--a subgroup of patients presenting with sicca symptoms.

    Science.gov (United States)

    Price, E J; Venables, P J W

    2002-04-01

    To evaluate the characteristics of patients presenting with symptoms suggestive of Sjögren's syndrome (SS) but failing to satisfy diagnostic criteria. Clinical, serological and histological data were collected on 34 patients presenting with dry eyes and/or mouth who did not satisfy the Vitali criteria for the diagnosis of SS. They were compared with 136 patients with primary SS, 38 patients with secondary SS, and 13 patients without SS. Questionnaires on symptoms from each group were compared with 43 healthy controls. The 34 patients who did not satisfy the diagnostic criteria for SS or any other connective tissue disease were designated dry eyes and mouth syndrome (DEMS). Their demography including age was similar to that of a primary SS group and there was no more atrophy seen on their biopsies compared with SS and non-SS controls. They scored highly on visual analogue scales of symptoms but had few objective signs. All were negative for anti-Ro and anti-La although the prevalence of antinuclear antibodies (19%) was increased compared with a normal population. There was no excess of SS-associated tissue types. There was no evidence that age, salivary gland atrophy or subclinical SS accounted for the symptoms in DEMS. Most of the patients fitted into a spectrum of disease which tended more towards fibromyalgia and/or chronic fatigue syndrome.

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

    Science.gov (United States)

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

    2016-01-01

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

  15. Multiple sclerosis presented as clinically isolated syndrome: the need for early diagnosis and treatment

    Directory of Open Access Journals (Sweden)

    Sigliti-Henrietta Pelidou

    2008-06-01

    Full Text Available Sigliti-Henrietta Pelidou, Sotirios Giannopoulos, Sotiria Tzavidi, Georgios Lagos, Athanassios P KyritsisDepartment of Neurology, University of Ioannina School of Medicine, GreeceObjective: To aid in the timely diagnosis of patients who present with clinically isolated syndrome (CIS.Patients and methods: We studied 25 patients (18 women, 7 men, originally presented in our clinic with a CIS suggestive of multiple sclerosis (MS. All patients underwent the full investigation procedure including routine tests, serology, cerebrospinal fluid (CSF examinations, evoked potentials (EPs, and magnetic resonance imaging (MRI of brain and cervical spinal cord. Patients were imaged at baseline, and every three months thereafter up to a year.Results: The CIS was consisted of optic neuritis in 12 cases, incomplete transverse myelitis (ITM in 7 cases, Lhermitte sign in 2 cases, internuclear ophthalmoplegia (INO in 2 cases, mild brainstem syndrome in 1 case, and tonic-clonic seizures in 1 case. Using the baseline and three-month scans 18/25 (72% patients developed definite MS in one year of follow up while 7 (28% had no further findings during this observation period. Immunomodulatory treatments were applied to all definite MS patients.Conclusion: In light of new treatments available, MRIs at 3 month intervals are helpful to obtain the definite diagnosis of MS as early as possible.Keywords: multiple sclerosis, clinically isolated syndrome, optic neuritis, transverse myelitis

  16. Perforeret sinus maxillaris efter fald mod nøddeknækker

    DEFF Research Database (Denmark)

    Rye Rasmussen, Eva; Arndal, Helge; Larsen, Per Leganger

    2011-01-01

    We present a case of open fracture of maxillary sinus following fall against a nutcracker. The only pathological findings were a small wound and subcutaneous emphysema in the front of and behind the right maxillary sinus. There was no flattening of the anterior wall of the maxillary sinus...

  17. Psychological Recovery in the Metabolic Syndrome in the Context of Antioxidant Therapy-Case Presentation

    Directory of Open Access Journals (Sweden)

    Ana-Maria DUMITRESCU

    2015-07-01

    Full Text Available Representing a major medical issue, especially in industrialized countries, the metabolic syndrome (MetS consists of a complex association of the most dangerous metabolic and cardiovascular risk factors according to the International Diabetes Federation: diabetes and prediabetes, abdominal obesity, high cholesterol and high blood pressure. The oxidative stress has as cause the existence of free radicals or radical-forming agents in higher concentrations than what it would be possible to cope with for the natural radical-blocking or scavenging systems. The effects of the antioxidant therapy in the metabolic syndrome and the psychological component involved are studied through a case presentation correlated, as well, with data from literature.

  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. Higher Body Mass Index and Increased Prevalence of Paranasal Sinus Disease

    Directory of Open Access Journals (Sweden)

    Yusuke Kabeya

    2016-05-01

    Full Text Available Background: We hypothesized that higher body mass index (BMI was associated with increased prevalence of paranasal sinus disease and examined the hypothesis in Japanese adults. Methods: This was a cross-sectional study including 1350 Japanese adults aged 40 years or more who participated in a health check-up program focusing on brain diseases and metabolic syndrome. Participants were divided into quartiles of BMI levels. Paranasal sinus disease was confirmed by a head MRI scan. The association between BMI and paranasal sinus disease was examined using logistic regression analysis, which was adjusted for age, sex, waist:hip ratio, hemoglobin A1c, systolic blood pressure, smoking status, alcohol intake, and white blood cell count. Results: Of the 1350 participants, 151 (11.2% had paranasal sinus disease. In relation to those in the lowest quartile of BMI, the odds ratios of having the disease among those in the 2nd, 3rd, and 4th quartiles of BMI were 1.89 (95% confidence interval [CI], 1.03–3.48, 2.26 (95% CI, 1.20–4.23 and 2.26 (95% CI, 1.14–4.51, respectively. When BMI was analysed as a continuous variable, an increase of one unit in BMI was significantly associated with increased odds of having the disease, with an OR of 1.08 (95% CI, 1.01–1.16. Conclusions: The present study suggests that patients with higher BMI are more likely to have paranasal sinus disease.

  20. Guyon's canal syndrome due to tortuous ulnar artery with DeQuervain stenosing tenosynovitis, ligamentous injuries and dorsal intercalated segmental instability syndrome, a rare presentation: a case report.

    Science.gov (United States)

    Zeeshan, Muhammad; Ahmed, Farhan; Kanwal, Darakhshan; Khalid, Qazi Saad Bin; Ahmed, Muhammad Nadeem

    2009-12-23

    The Guyon's canal syndrome is a well known clinical entity and may have significant impact on patient's quality of life. We report a case of 43-year-old male who presented with complaints of pain and numbness in right hand and difficulty in writing for past one month. On imaging diagnosis of Guyon's canal syndrome because of tortuous ulnar artery was made with additional findings of DeQuervain's stenosing tenosynovitis and dorsal intercalated segmental instability syndrome with ligamentous injury and subsequently these were confirmed on surgery.Although it is a rare syndrome, early diagnosis and treatment prevents permanent neurological deficits and improve patient's quality of life.