Search Results
Results 451 - 500 of 1012
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Skorpinski Edward W - - 2007
In this case report we describe the first account in the literature of a patient with primary ciliary dyskinesia and common variable immunodeficiency. A 17-year-old boy with previously diagnosed Kartagener syndrome and stable lung disease developed a deteriorating clinical course that prompted the search for a secondary diagnosis. Although both ...
Lee Hsiu-Fen - - 2007
BACKGROUND: Pearson syndrome (PS) is an uncommon specific syndrome among mitochondrial diseases. It has unique clinical presentations. AIMS: The purpose of this article is to clarify the neurological evolution, neuroimage findings, molecular genetic analysis and outcomes in PS cases with neurologic manifestations. METHODS: We described the clinical progress of a ...
Yüksel Adnan - - 2007
We report a 4-year-old Turkish boy with Warburg Micro syndrome born to consanguineous parents. He had ptosis, deep-set eyes, microphthalmia, microcornea, microcephaly, prominent ears and nasal root, micrognathia, hypertrichosis, spastic diplegia, skin hyperextensibility and joint hypermobility, hypogenitalism, cerebral atrophy and hypoplasia of corpus callosum and cerebellum. Sequence analysis of exon ...
Pelajo Christina Feitosa - - 2007
INTRODUCTION: In children, vasculitis as a paraneoplastic syndrome has never been reported before. In this work we report a vasculitis syndrome as a neoplasm onset manifestation in a child and we discuss our case regarding the data from literature. CASE REPORT: A 7-year-old girl presented with hand and foot ulceration, ...
Margolis Ron - - 2007
PURPOSE: To describe an unusual case of Churg-Strauss syndrome (CSS) that presented with a conjunctival nodule and was successfully treated with oral corticosteroids. METHODS: Case report. RESULTS: A 30-year-old woman with a history of adult-onset asthma, seasonal allergies, and a lung mass presented with a nodular elevation of the conjunctiva. ...
Chokshi Reena - - 2007
Purple glove syndrome (PGS) is a rare complication of intravenous phenytoin use that typically presents with pain, edema, and discoloration at the injection site that spreads to the distal limb. Several risk factors have been associated with the development of PGS; however, the etiology remains unknown. We present a case ...
Keane James R - - 2007
To my knowledge, no general study of complete ophthalmoplegia is available. This study was performed to determine the seats and causes of bilateral ocular paralysis. The personal records of 13 440 neurology and neurosurgery inpatients were reviewed. Eighteen (58%) of 31 patients had Fisher syndrome (13 cases) or Guillain-Barré syndrome ...
Agerholm Jørgen S - - 2007
BACKGROUND: The bovine brachyspina syndrome is a recently reported malformation in the Holstein breed. The aetiology of this syndrome is unknown, but its occurrence following breeding between genetically related and phenotypically normal cattle may indicate that it is an autosomal recessively inherited disorder. Three cases are reported and compared to ...
Thompson M - - 2007
Lemierre's syndrome is an anaerobic suppurative thrombophlebitis involving the internal jugular vein secondary to oropharyngeal infection. There is only one previous case report in pregnancy which was complicated by premature delivery of an infant that suffered significant neurological damage. We present an atypical case diagnosed in the second trimester with ...
Ozen Murat Eren - - 2007
Neuroleptic malignant syndrome (NMS) is the rarest and most serious of the neuroleptic-induced movement disorders. We describe a case of neuroleptic malignant syndrome (NMS) associated with the use of ziprasidone. Although conventional neuroleptics are more frequently associated with NMS, atypical antipsychotic drugs like ziprasidone may also be a cause. The ...
Dhir Varun - - 2007
'Idiopathic systemic capillary leak syndrome (SCLS), or Clarkson's disease is an unusual entity first described 45 years ago. It presents with recurrent episodes of shock due to leakage of the plasma, which is reflected by accompanying hemo-concentration, hypo-albuminemia and edema. We report the case of a young man with multiple ...
Evans Randolph W - - 2007
BACKGROUND: On July 19, 2006, the US Food and Drug Administration (FDA) issued an alert, "Potentially Life-Threatening Serotonin Syndrome With Combined Use of SSRIs or SNRIs and Triptan Medications." However, the cases that were the basis for the alert were not made available. The FDA recommends that patients treated concomitantly ...
van Veldhuizen-Staas Caroline Ga - - 2007
Too much or too little milk production are common problems in a lactation consultant's practice. Whereas underproduction is widely discussed in the lactation literature, overabundant milk supply is not. In my practice I work with women who experience moderate to severe oversupply syndrome. In most cases the syndrome can be ...
Dhawan Saurabh S - - 2007
Presented here is a case of syndrome of inappropriate antidiuretic hormone secretion (SIADH) that developed in an elderly woman with single dermatomal herpes varicella zoster ophthalmicus without evidence of varicella-zoster encephalitis or dissemination. This is only the third such case reported in the English language literature to date, and it ...
Egritas Odul - - 2007
Kawasaki syndrome (KS) is a self-limiting childhood disease. Gallbladder hydrops is an uncommon manifestation of this syndrome, found rarely in infants. We report the case of a 7-month-old girl with KS manifesting as gallbladder hydrops, which resolved spontaneously during follow-up. To our knowledge, this represents the youngest such case ever ...
Rathi M
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive condition characterized by retinitis pigmentosa, postaxial polydactyly, central obesity, and renal involvement. Renal failure is the commonest cause of death. We report the first case of BBS with documented end-stage kidney disease from India. The diagnosis had been missed until the patient ...
Ottaviano Giuseppina - - 2007
The association between Goldenhar syndrome and homolateral internal carotid artery agenesis to our knowledge, has never emerged before. We present a case report in a female child that was examined with tonal audiometry, A.B.R., CT scan, MR, digital-subtraction-angiography and color Doppler. The aim of this report is to present an ...
Vyas Himeshkumar - - 2006
The use of complementary medication is on the rise worldwide. More often than not, the treating physicians are unaware of this and also unfamiliar with the potential benefit or toxicity of the agents. Here, we present the case of a 39-year-old woman who presented with new onset of syncope as ...
Dörr J - - 2006
Miller Fisher syndrome (MFS) is a rare and usually monophasic polyradiculoneuropathy characterised by ophthalmoplegia, decreased or absent tendon reflexes, and ataxia. The objective of this study was to report a case of recurrent MFS with a clinical presentation virtually indistinguishable from botulism. The patient was a young man with two ...
Cabrera Shannon - - 2006
A prospective, noncomparative, observational case series. Three patients, aged 76 to 81, all referred to subspecialty services for evaluation of optic disc elevation, and all were found to have optic disc (vitreopapillary) traction as verified by optical coherence tomography. Vitreopapillary traction is a recently recognized syndrome characterized by incomplete posterior ...
Sato T - - 2006
The case history is presented of a patient with Trousseau's syndrome in which tissue factor originating from lung cancer appeared responsible for recurrent DVT/PE. This is thought to be the first such case to be reported.
Slasky Shira E - - 2006
Sturge-Weber syndrome is a neurocutaneous syndrome with a facial port-wine nevus and neurologic features, typically including seizures and hemiparesis. Glaucoma may also occur. MRI features include leptomeningeal angiomatosis, cortical and pial calcifications, and angiomatous change of the choroid plexus. We reviewed a subset of patients with Sturge-Weber syndrome with the ...
Garrè M L - - 2007
OBJECTS: Genetic syndromes associated with ependymoma are uncommon, with the exception of NF2. We describe two cases of ependymoma presenting with Klinefelter's Syndrome (KS) as co-morbid condition. MATERIALS AND METHODS: The first patient was diagnosed for KS during pregnancy; he also presented a thyroid agenesis and a deficit of methyltetrahydrofolate ...
Owoeye, JFA; P.O. Box ...
Fuchs' uveitis syndrome (FUS) is an uncommon form of uveitis. A case of presumed FUS seen in a patient at the eye clinic of the University of Ilorin Teaching Hospital (UITH), Ilorin, Nigeria is presented. An update on FUS is provided. A high index of suspicion is advocated for cases ...
Ugras M - - 2006
Neu-Laxova syndrome (NLS) is a rare autosomal recessive syndrome, characterized by severe intrauterine growth retardation (IUGR), microcephaly, abnormal brain development, oedema and ichthyosis. It was first reported in 1971 by Neu et al. (Pediatrics 47: 610-612) and since then no more than 60 cases have been reported. A newborn girl ...
Ng S P - - 2006
The empty follicle syndrome (EFS) is a rare complication of in vitro fertilization (IVF) treatment, leading to cycle cancellation. Low human chorionic gonadotropin (hCG) bioavailability and ovarian dysfunction have been implicated with this condition. This case report illustrates a typical case of EFS and several strategies suggested to overcome this ...
Nahas Sergio Carlos - - 2006
A small number of cases of Crohn disease associated with myelodysplastic syndromes or leukemia have been reported in adults in the last 25 years in the English-language medical literature. The authors report a case of a 9-year-old boy who developed Crohn disease and myelodysplastic syndrome concurrently. Analysis of his bone ...
Goshtasby Parviz - - 2006
Disorders of fatty tissue metabolism and body contour are frequently described in the literature. Several different syndromes have been ascribed to recurring characteristics of fatty deposition with similar underlying etiologies. These syndromes can generally be classified into the lipomatoses (abnormal accumulations of fat) and the lipodystrophies (abnormal fat atrophy). The ...
Kötter I - - 2006
INTRODUCTION: In 1985, Firestein et al. described 5 patients with relapsing polychondritis and Behçet's disease (BD) and proposed the term "MAGIC" syndrome as an acronym for "Mouth and Genital ulcers with Inflamed Cartilage". We report on an additional case of this syndrome and critically review the literature. RESULTS: From 1985 ...
Tsochatzis Emmanuel - - 2006
Ichthyosis is a cutaneous keratinization disorder that can either be congenital or acquired. Acquired ichthyosis has been reported in association with a variety of neoplastic, autoimmune, and infectious diseases. We report the case of a 68-year-old woman who presented with generalized ichthyosis as the first manifestation of myelodysplastic syndrome. This ...
Lee Ya-Ting - - 2006
Gitelman syndrome (GS) is a rare autosomal recessive, inherited renal tubular disorder. Herein, we report three cases of GS, one sporadic case and two siblings. They have typical laboratory findings, including hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. All of them were treated with oral potassium and magnesium supplements. They received ...
Düzovali Oznur - - 2006
Dorfman-Chanarin syndrome is a rare, autosomal recessive disorder characterized by congenital ichthyosis and presence of intracellular lipid droplets in most tissues. Here, we present a patient from Turkey, who is the fourth Turkish case in the literature with this syndrome, and we review the previous reported cases. He was also ...
Guion-Almeida Maria Leine - - 2006
We report on two new Brazilian cases and reviewed two previously reported patients with a characteristic combination of signs including mandibulofacial dysostosis, a clinical suggestion of trigonocephaly, microcephaly, unusual ears with skin tags, and cleft palate. Follow-up of these patients revealed growth and mental retardation, and severe language and speech ...
Bohring Axel - - 2006
We report on four additional unrelated cases of Bohring-Opitz syndrome with the highly characteristic phenotype of facial anomalies including bulging forehead over the metopic suture, frontal nevus flammeus, exophthalmos, hypertelorism, upslanting palpebral fissures, and cleft lip and/or palate, as well as flexion deformities of the upper limbs, multiple other anomalies, ...
Supe Svjetlana - - 2006
Neuroleptic malignant syndrome (NMS) is an uncommon but sometimes fatal complication of neuroleptics and other medications that involve the central dopaminergic system. Many diagnostic criteria have been proposed for NMS but because of its variable presentation, universal criteria have not been established yet. Hyperthermia, disturbances of consciousness, extrapyramidal and autonomic ...
Lesho Emil - - 2006
Most of the evidence supporting the use of corticosteroids (steroids) for immune reconstitution syndrome (IRS) comes from case reports or retrospective series and is of low quality. However, when steroids are used, they have usually been associated with clinical improvement or resolution of IRS. Except in the case of hepatitis ...
Labuda Anna A Department of Physical Medicine and Rehabilitation, McMaster University, Hamilton, Ontario, Canada. - - 2006
To report a case of brain injury following neuroleptic malignant syndrome (NMS) and review the literature for similar documented cases. A 30-year old woman presented to the ER with psychotic features and was treated with several anti-psychotics. Subsequently, she developed neurological symptoms and was diagnosed with neuroleptic malignant syndrome. Following ...
Jordan Harold W - - 2006
Erotomania (also known as De Clerambault's syndrome) is usually described as a rare delusional syndrome that characteristically involves a woman who believes that a man, typically of higher social, economic or political status, is in love with her. Two cases are reviewed here that have been followed for over 30 ...
Pfleger Andreas - - 2006
Gorham-Stout syndrome is a rare disease characterized by vascular proliferation in the bones, effecting osteolysis. When it is complicated by chylothorax, the prognosis is poor. The present case illustrates successful management of chylothorax by a combination of surgery (thoracic duct ligation and excision of lymphangiomatous tissue combined with pleurodesis) and ...
Hunter Alasdair G W - - 2006
The discovery of relevant causative genes has subdued the lumping versus splitting debate with respect to a growing number of syndromes. However, it remains paramount to define unknown genesis syndromes as precisely and appropriately as possible in order to provide accurate prognosis and to facilitate future research. The presentation of ...
Cleary Carla K - - 2006
Current best evidence for the conservative management of radial tunnel syndrome (RTS) consists primarily of expert opinion and inferences taken from studies on other nerve compressions and related syndromes. There are limited data reported in the literature of this particular disorder. This article reviews literature on modalities, therapeutic exercise, ergonomic ...
Ur Rehman Shafiq - - 2006
PURPOSE: To describe the clinical features in a series of patients with poststreptococcal uveitis and to review literature on the pathophysiology and management. DESIGN: Retrospective and descriptive case series. PARTICIPANTS: Ten consecutive cases of poststreptococcal syndrome uveitis diagnosed between 1996 and 2003. METHODS: Review of patient case notes. MAIN OUTCOME ...
Kuruvilla G - - 2006
Invasive fungal mastoiditis is a rare entity, seen almost entirely in immunocompromized patients. It has been reported primarily in patients with leukaemia and more recently with acquired immunodeficiency syndrome. A literature search revealed only a few reports in diabetic patients, in whom the invasive fungus was identified as mucormycosis in ...
Delvi Mohamad Bilal MB Department of Anesthesia, King Khalid University Hospital, Riyadh, Saudi - - 2006
A case report of rare congenital disease of encephalo-trigeminal angiomatosis (Sturge-Weber Syndrome) (SWS), is presented to alert the anesthesiologist of its potential risk. The case was anesthetized for emergency orthopedic surgery. Anesthesia management is directed towards observing the clinical manifestations of localized superficial skin lesions, extensive systemic involvement, evaluating its ...
Sharma Vikas - - 2006
Acrokeratosis paraneoplastica of Bazex is a rare syndrome. This condition is a distinct skin marker of supra-diaphragmatic neoplasia. This syndrome is important because the cutaneous findings preceed the onset of symptoms referable to the underlying neoplasm by several months in majority of the cases. We report here a case of ...
Rieux-Laucat Frédéric - - 2006
The death receptor Fas/TNFRSF6 is a key player in lymphocyte apoptosis induction. Patients lacking a functional Fas/TNFRSF6 receptor develop a chronic lymphoproliferation termed Autoimmune LymphoProliferative Syndrome (ALPS), characterized by a benign tumoral syndrome, autoimmune cytopenias, hyperglobulinemia (G and A) and accumulation of TCRalphaBeta CD4-CD8- cells (called double-negative, or DN, T ...
Ozyurek Hamit - - 2005
Reversible posterior leukoencephalopathy syndrome is characterized clinically by headache, abnormalities of mental status and visual perception, and seizures. Despite its diverse causes, common precipitating factors are defined as abrupt elevations of blood pressure, renal decompensation, fluid retention, and immunosuppressive therapy. We report three children with reversible posterior leukoencephalopathy syndrome presenting ...
Hathursinghe H R - - 2006
Kawasaki syndrome is an acute, self-limiting vasculitis that occurs mainly in children. The disorder is difficult to diagnose, a problem compounded by the lack of a specific diagnostic test. If the condition is unrecognised or treated sub-optimally, there is a 25% risk of developing serious cardiovascular complications. We report the ...
Vaccaro Mario - - 2005
Kabuki make-up syndrome (KMS; OMIM#147920) is a multiple congenital anomalies/mental retardation syndrome of unknown cause, first described independently by Niikawa and Kuroki. It is characterized by a peculiar facial appearance, mild to moderate mental retardation, skeletal abnormality, joint laxity, short stature, and unusual dermatoglyphic patterns. Several additional malformations (eg, cleft ...
Amornfa Jiraphorn - - 2005
In the present paper the authors examine two cases of Currarino syndrome and review the existing literature on the disease. Both cases presented with chronic constipation. The first concerns a two year old male born with anorectal stenosis and diagnosed with Currarino syndrome when scimitar sacrum and anterior meningocele were ...
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