Search Results
Results 401 - 450 of 980
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Shprecher David R - - 2008
Delayed hypoxic leukoencephalopathy is an underrecognized syndrome of delayed demyelination, which is important to consider when delayed onset of neuropsychiatric symptoms follows a hypoxic event. The authors describe clinical and diagnostic features of three such cases, review the pathophysiology of delayed hypoxic leukoencephalopathy, and discuss features which may help distinguish ...
Ortega Adriana de Oliveira Lira Ade - - 2008
Noonan syndrome (NS) is an autosomal dominant disorder characterized by dysmorphic facial features in association with short stature and heart disease. A webbed neck, chest deformities, mental retardation, and bleeding disorders are also frequently associated with this pathology. NS is relatively common, with an estimated incidence of 1 per 1,000 ...
Lorenz Raymond A RA Auburn University Harrison School of Pharmacy, Mobile, Alabama, USA. - - 2008
To report the results from a retrospective chart review looking at the combination of linezolid and serotonergic antidepressants and to report two cases of serotonin syndrome which were identified at our hospital. During the retrospective chart review one case of serotonin syndrome was identified. A 65-year-old female was receiving escitalopram ...
Lonardo Fortunato - - 2007
Al-Awadi/Raas-Rothschild syndrome, an autosomal recessive disorder, is characterized by severe malformations of the upper and lower limbs, and a hypoplastic pelvis. We describe two new cases with the typical manifestations, report some new findings, review the relevant literature, and present minimal criteria for the diagnosis. A single homozygous WNT7A mutation ...
Dintaman J - - 2007
Upper extremity deep vein thrombosis (UEDVT) is a rare disorder in children and is most often associated with a central venous catheter (CVC), cancer, or an underlying thrombophilia. In adults, repetitive or strenuous upper extremity activity has been linked to mechanical compression of the thoracic outlet resulting in subclavian vein ...
Rajan K V - - 2007
We report a case of a giant frontoethmoidal mucocele extending to the orbit and anterior cranial fossa. Clinically, the patient had an insidious onset of clinical presentation with no intracranial symptoms. We present its CT, MRI and histpathological features with a brief review of literature. Various surgical approaches are also ...
Bashir, A H; ;
A female patient, 14 years old, student, is suffering from thickness, fissuring and dryness of palmoplantar skin since 6 months old and external aspects of forearms, legs and centre of face since the last year. The case is diagnosed professionally as: Symmetrical Progressive Erythrokeratoderma- Gottron's syndrome, and confirmed histopathologically, considered ...
Namnyak M - - 2008
OBJECTIVE: 'Stockholm syndrome' is a term used to describe the positive bond some kidnap victims develop with their captor. High-profile cases are reported by the media although the diagnosis is not described in any international classification system. Here we review the evidence base on 'Stockholm syndrome'. METHOD: Databases (PubMED, EMBASE, ...
Huang Yen-Chu - - 2008
Antiphospholipid syndrome (APS) is identified as the presence of antiphospholipid antibodies (aPLs) in patients with vascular thrombosis and/or pregnancy morbidity (including fetal death, premature birth and habitual abortion). Neurological manifestations in patients with APS are common, whereas movement disorders are rarely seen. We report an extremely rare case of APS ...
Barker L - - 2008
OBJECTIVE: We report the first case of tongue base myolipoma associated with Gorlin's syndrome. METHOD: Case report and review of world literature. RESULTS: A 39-year-old man with known Gorlin's syndrome presented with progressive dysphagia. Subsequent magnetic resonance imaging scan and biopsy confirmed the rare diagnosis of myolipoma arising from the ...
Klement Vladislav - - 2007
Cogan's syndrome is a rare autoimmune disorder connecting ophthalmologic and audiovestibular signs. A case of a young patient is reported, describing the evolution of her illness, and diagnostic and therapeutic measures performed. Response to treatment, including glucocorticoid therapy and hyperbaric oxygenation, is discussed. A synoptic review of knowledge of this ...
Rodrigues Guilherme Gustavo Riccioppo - - 2007
SUNCT is one of the rarest and least known primary headache disorders. Although its pathogenesis has been partially understood by functional neuroimaging and reports of secondary cases, there is limited understanding of its cause. We report a case of SUNCT in a 54-years-old man, that could not be strictly classified ...
Pahuriray Lourdes S - - 2007
PURPOSE: To provide nurse practitioners (NPs) with a case study and literature review of Budd-Chiari syndrome (BCS). This rare liver disease has a multitude of clinical presentations that NPs may encounter in the primary care setting. DATA SOURCE: A literature search was conducted in Pub-Med and CINAHL using key search ...
Kozak O S - - 2007
We report 10 cases of status epilepticus (SE) in patients with posterior reversible encephalopathy syndrome (PRES). In all cases, SE brought PRES to medical attention. The majority of the cases had focal-onset complex partial SE. Complete resolution of SE was achieved after combined treatment of PRES and SE in all ...
Asghar M - - 2007
OBJECTIVE: The aim of this article is to review the published English literature on aetiology, pathology, clinical presentation, diagnostic methods and treatment of renal vein thrombosis. MATERIALS AND METHODS: We searched the published literature from Medline & Pubmed using keywords renal vein thrombosis, anti-phospholipid syndrome and nephrotic syndrome. Data was ...
Murphy Conor C - - 2007
Cutis marmorata telangiectatica congenita (CMTC) is characterized by the appearance of telangiectasia, phlebectasia, and a persistent reticular pattern of subcutaneous vasculature at or soon after birth. Up to 90% of cases are associated with systemic abnormalities, which include body asymmetry, cutaneous atrophy, neurological abnormalities, and vascular anomalies (nevus flammeus, Sturge-Weber ...
Blount Jeffrey P - - 2007
INTRODUCTION: Although rare, pansynostoses are seen and treated by the craniofacial surgeon. To date, a single source that reviews these more severe forms of craniosynostosis is lacking in the literature. MATERIALS AND METHODS: The present paper outlines and reviews the associations of both syndromic and nonsyndromic cases, potential mechanisms, and ...
Spyridonidis Trifon - - 2007
Synovitis, acne, pustulosis, osteitis (SAPHO) syndrome is rare with yet unknown prevalence. The difficulty in recognizing the syndrome is due to the very wide diversity of its signs and symptoms, the lack of skin manifestations in many cases and to confusion in medical terminology in describing this syndrome. In this ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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.
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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