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Fitzgerald Ryan T RT University of Arkansas for Medical Sciences, Department of Radiology, Neuroradiology Division, Little Rock, - - 2014
We report two cases of posterior reversible encephalopathy syndrome (PRES) occurring in association with supra-therapeutic serum lithium levels. Although the neurologic manifestations of lithium toxicity are well known, this is, to our knowledge, the first report describing a link between lithium toxicity and PRES. We discuss the current understanding of ...
Das Sourav S Department of Psychiatry and Sleep Clinic, Himalayan Institute of Medical Sciences, Doiwala, Dehradun, - - 2014
Kleine-Levin syndrome presents with recurrent hypersomnia along with a number of other neuropsychiatric features, of which hyperorality has not been described frequently. We report a male adolescent who presented with recurrent hypersomnia, hypersexuality, and hyperorality. Magnetic resonance imaging of the brain and overnight polysomnography followed by a multiple sleep latency ...
Sveinsson Olafur O Department of Neurology, Karolinska University Hospital , Stockholm , - - 2014
Kleine-Levin syndrome (KLS) is an episodic hypersomnia with cognitive disturbances such as confusion, apathy, and derealization. Hyperphagia and hypersexuality occur in around 50% of cases. No evidence-based treatments have been established for KLS. Many drugs have been tried, most often with little success. Here, a case with a striking response ...
Tasian Sarah K SK Department of Pediatrics, Division of Pediatric Hematology-Oncology, University of California, San Francisco School of Medicine, San Francisco, CA, USA. - - 2012
Diaphanospondylodysostosis (DSD) is a rare skeletal dysplasia syndrome resulting from disordered mesenchymal differentiation. Children with DSD generally die in utero or during the first month of life from severe thoracic insufficiency syndrome. An association of DSD with nephroblastomatosis has been observed, but the natural history of such nephroblastomatosis remains poorly ...
Santoro Domenico - - 2012
Tubulointerstitial nephritis and uveitis (TINU) syndrome is due to a disregulation of cell-mediated immunity and genetical predisposition due a particular molecular characterization. We report the case of a 50-year-old woman who was admitted for acute renal failure. She had recently taken flurbiprofen for 10 d for recurrent bronchitis. A renal ...
Czaja Albert J - - 2012
Autoimmune hepatitis has two major variant phenotypes in which the features of classical disease are co-mingled with those of primary biliary cirrhosis or primary sclerosing cholangitis. These overlap syndromes lack codified diagnostic criteria, established pathogenic mechanisms, and confident management strategies. Their clinical importance relates mainly to the identification of patients ...
Hashimoto Yaichiro - - 2012
'Dropped head syndrome' (DHS) is characterized by severe weakness of the muscles of the back of the neck, resulting in chin-on-chest deformity. Dropped head syndrome induced by radiotherapy is very rare. We report a case of DHS following chemoradiotherapy with a total of 64.8 Gy in 36 fractions for nasopharyngeal ...
Phan Thuyvan - - 2012
Background Lemierre's syndrome is a rare condition involving septic thrombophlebitis of the internal jugular vein secondary to an acute oropharyngeal infection. The low incidence and prevalence of Lemierre's syndrome contribute to the many controversies pertaining to its therapeutic management, one of which is the use of anticoagulation for associated internal ...
Chad Lauren - - 2012
Abstract This case describes the clinical course and autopsy findings of a five-year-old girl with PHACES syndrome. While the etiopathogenesis of this condition is not yet understood, the pathological changes documented support the concept that the primary defect in PHACES syndrome is an arteriopathy.
Vanderschueren Steven - - 2012
OBJECTIVES: Daily injections of anakinra, an interleukin-1-receptor antagonist, have been reported to control effectively the symptoms and signs of Schnitzler syndrome, a rare acquired autoinflammatory disorder, presenting in adulthood by intermittent fever, urticarial rash, and paraproteinemia, usually IgM. Canakinumab, a fully human interleukin-1β monoclonal antibody, approved for the cryoporin-associated periodic ...
Vilalta Ramon R Pediatric Nephrology Department, Hospital Universitari Vall d'Hebron, Pg. Vall d'Hebron 129-139, 08039, Barcelona, Spain. - - 2012
Atypical hemolytic uremic syndrome (aHUS) is a rare genetic disorder caused by chronic uncontrolled complement activation. We present a 4-year-old girl with aHUS who had multiple severe clinical manifestations of thrombotic microangiopathy (TMA) including acute kidney injury, dilated cardiomyopathy, and cardiorespiratory arrest. She was managed with intensive plasma exchange and ...
Gilhus Nils E - - 2012
PURPOSE OF REVIEW: Myasthenic syndromes are distinct disorders at the neuromuscular junction, most often with well characterized autoimmune or genetic pathology. New aspects of the dysfunctions give insight into the normal neuromuscular function in addition to giving therapeutic clues and tailoring the therapy to the pathophysiology in individual patients. RECENT ...
Bank S - - 2012
The main purpose of this paper was to estimate the cost per quality-adjusted life year (QALY) saved by identifying Fusobacterium necrophorum in throat swabs followed by proper antibiotic treatment, to reduce the incidence of Lemierre's syndrome and peritonsillar abscesses (PTA) originating from a pharyngitis. The second purpose was to estimate ...
Pipili Chrysoula - - 2012
A young patient with hemolytic-uremic syndrome and malignant hypertension with serious deterioration of renal function is described whose biopsy specimen showed additional IgA mesangial deposits. The patient responded to steroid treatment and to plasma exchange therapy without the need of hemodialysis sessions. In the following years, he achieved clinical remission ...
Chase Andrew - - 2012
The 8p11 myeloproliferative syndrome is a rare, aggressive myeloproliferative neoplasm characterised by constitutively active FGFR1 fusion proteins that arise from specific chromosomal translocations and which drive aberrant proliferation. Although FGFR1 inhibitors have shown in vitro activity against FGFR1 fusions, none are in use clinically and there is a need to ...
Brunel A S - - 2012
Management of relapsing or refractory immune reconstitution inflammatory syndromes (IRIS) despite corticosteroid therapy has yet to be defined. We describe three HIV-infected subjects with corticosteroid-dependent and life-threatening paradoxical IRIS for whom thalidomide treatment induced rapid clinical remission and permitted complete corticosteroid withdrawal without clinical relapse.
Allerton Claire - - 2012
This report describes a case of acute paraspinal compartment syndrome in a 25-year-old man. The diagnosis was significantly delayed, perhaps to some extent because of the rarity of the condition. The patient was managed with forced diuresis, analgesia and hyperbaric oxygen therapy. The discussion addresses an unusual site for compartment ...
Carroll T - - 2012
Patients with endogenous hypercortisolism, Cushing's syndrome, have significant morbidity and increased mortality when inadequately treated. When surgical therapy has been unsuccessful other treatment modalities are necessary. Previously available therapies have limited effectiveness or significant toxicity. Mifepristone, a glucocorticoid receptor antagonist, provides a novel approach to the treatment of hypercortisolism. It ...
Goadsby Peter J - - 2012
ABSTRACT: Purpose of Review: This article covers the clinical manifestations and differential diagnosis of the trigeminal autonomic cephalalgias (TACs).Recent Findings: TACs comprise a subgroup of primary headache disorders presenting with lateralized, often severe, pain accompanied by cranial autonomic features. The key syndromes are cluster headache, paroxysmal hemicrania, short-lasting unilateral neuralgiform ...
Dispenzieri Angela - - 2012
POEMS syndrome is a paraneoplastic syndrome due to an underlying plasma cell neoplasm. The major criteria for the syndrome are polyradiculoneuropathy, clonal plasma cell disorder (PCD), sclerotic bone lesions, elevated vascular endothelial growth factor, and the presence of Castleman disease. Minor features include organomegaly, endocrinopathy, characteristic skin changes, papilledema, extravascular ...
Fonteles Cristiane Sá Roriz - - 2012
Abstract Noonan syndrome is a multiple malformation disorder with an autosomal dominant inheritance pattern. Congenital heart defects, short stature, thoracic deformities, short neck with webbing, hypertelorism, malocclusions, and feeding difficulties are some of the commonly observed clinical features. We report on a case of a patient with Noonan syndrome, severe ...
Fuijkschot Joris - - 2012
This review article gives a state-of-the-art synopsis of current pathophysiological concepts in Sjögren-Larsson syndrome (SLS) mainly based upon original research data of the authors in one of the world's largest clinical SLS study cohorts. Clinical features are discussed in order of appearance, and diagnostic tests are set out to guide ...
Serrano Mercedes - - 2012
Over the past decade, a syndrome consisting of low folate values in the cerebrospinal fluid (CSF) has been described. The syndrome has been associated with both genetic and acquired conditions that affect folate transport and metabolism and can result in severe neurological disorders. There is a wide range of underlying ...
Falcini Fernanda - - 2012
Kawasaki syndrome (KS) typically strikes children younger than age 5 and presents with persistent high fever for at least 5 days combined with a heterogeneous polymorphous rash, extremity abnormalities, oropharyngitis, non-exudative conjunctivitis and cervical lymphadenitis. Treatment with high-dose intravenous immunoglobulin reduces substantially the risk of potential cardiovascular complications. For the first ...
McNicholas Fiona - - 2012
A case is presented of an 11-year-old girl with pervasive refusal syndrome (PRS) who ultimately recovered acutely and completely after an 18-month paediatric hospitalisation. There was an apparent absence of previously proposed important aetiological factors in PRS, such as family pathology and markedly traumatic or abusive experiences, and her recovery ...
Agarwal Nitin - - 2012
Slit ventricle syndrome is a rare condition whereby brain compliance is reduced and can be associated with intermittent intracranial hypertension. A 19-year-old male with a ventriculoperitoneal shunt for congenital hydrocephalus presented with a 1-day history of headache and drowsiness-symptoms from which he suffered in many recurrent episodes over the past ...
Ramentol-Sintas Marc - - 2012
The Churg-Strauss Syndrome is an ANCA-associated vasculitis in an inflammatory multisystem disease with preference to the respiratory tract. Peripheral and tissue eosinophilia are the pathological hallmarks of this condition. The etiopathogenesis is unknown but some cytokines appear to play a central role and could be targets for new therapies.
Barber Nicholas A - - 2012
Hodgkin lymphoma (HL) is a rare malignancy of the lymphatic system that is curable in at least 80 % of patients. Although patients usually present with painless lymphadenopathy, a variety of systemic and organ-specific syndromes may also exist in relation to HL. These syndromes may develop before, during, or after the ...
Spuijbroek Esther J - - 2012
A young woman hospitalized herself for a picture resembling Stockholm syndrome (becoming a willing captive in a cult, sympathetic to the leader). After a short period of time, it became clear that she had used a false identity and had invented the story, leading to diagnoses of both Munchausen syndrome ...
Sheflin-Findling Shari - - 2012
This is a case report of the first patient with Alagille syndrome (AGS) to undergo a partial internal biliary diversion (PIBD) for the treatment of symptoms refractory to medical therapy. Alagille syndrome is a hereditary disease resulting in chronic cholestasis and hypercholesterolemia that can lead to severe and intractable pruritus ...
Dardis Christopher - - 2012
Oxcarbazepine, a metabolite of carbamazepine, is used as an antiepileptic, analgesic for neuropathic pain and in the treatment of affective disorders. It has been approved by the Food and Drug Administration for partial seizures in adults as both adjunctive and monotherapy, and as adjunctive therapy in children aged from 2 ...
Kaplan Allen P - - 2012
Numerous controlled studies as well as case reports have demonstrated that Omalizumab can be employed successfully in approximately 75 % of patients with chronic spontaneous urticaria, leading to a dramatic decrement in symptoms with very few side effects. No other drug currently available is comparable, and the success rate in patients ...
Myojo Takuya - - 2012
We describe a case of early repolarization syndrome in which augmented J waves were documented during an electrical storm associated with hypokalemia. The patient was referred to our hospital for therapy to treat recurrent ventricular fibrillation (VF). The 12-lead electrocardiogram showed giant J waves associated with hypokalemia during multiple episodes ...
Régal Luc - - 2012
Hypotonia-cystinuria syndrome (HCS) is an autosomal recessive disorder caused by combined deletions of SLC3A1 and PREPL. Clinical features include cystinuria, neonatal hypotonia with spontaneous improvement, poor feeding in neonates, hyperphagia in childhood, growth hormone deficiency, and variable cognitive problems. Only 14 families with 6 different deletions have been reported. Patients ...
Daily Ryan - - 2012
'Nutcracker syndrome' encompasses classical symptoms of hematuria and flank pain resulting from the compression of the left renal vein between the aorta and the superior mesenteric artery. In patients with unexplained left-sided hematuria, flank pain or non-specific abdominal pain, careful interrogation of diagnostic abdominal imaging should be performed to exclude ...
Bielsa I - - 2012
Scleromyxedema is a potentially serious disease that can have various systemic complications. One of the most frequent forms of central nervous system involvement is dermato-neuro syndrome. High-dose intravenous immunoglobulins are among the drug treatments that have been used for this syndrome. We describe 2 patients with scleromyxedema, one of whom ...
Wang Wenjing - - 2012
BACKGROUND: Cyclosporine A (CsA) and tacrolimus (TAC) are often alternative treatment choices for patients with nephrotic syndrome. METHODS: In this prospective study, the efficacy and safety of CsA and TAC in inducing and maintaining remission in 74 children with idiopathic nephrotic syndrome (INS) were evaluated. RESULTS: In terms of short-term ...
Clark Paul J - - 2012
Budd-Chiari syndrome (BCS) or hepatic venous outflow obstruction, is a rare and complex clinical entity, with diverse aetiology and a wide range of presentations. Its rarity and heterogeneity create significant challenges for evidence-based clinical decision-making, particularly in the even more infrequent setting of acute BCS presentation. Here we present the ...
Zepeda-Orozco Diana - - 2012
The dialysis disequilibrium syndrome is a rare but serious complication of hemodialysis. Despite the fact that maintenance hemodialysis has been a routine procedure for over 50 years, this syndrome remains poorly understood. The signs and symptoms vary widely from restlessness and headache to coma and death. While cerebral edema and ...
Asakura Yumi - - 2012
This article reports the first case of a Japanese girl with molecularly confirmed Myhre syndrome (MS). The patient was 9 years old at her first visit, and she had been diagnosed with unknown skeletal dysplasia. Her phenotype fulfilled the clinical and radiological criteria for MS, such as typical facies with ...
Wuerfel Jens - - 2012
Background:Although an orphan disease with still obscure aetiopathogenesis, Susac syndrome has to be considered as differential diagnosis in multiple sclerosis (MS), since its clinical presentation and paraclinical features including routine magnetic resonance imaging (MRI) findings partially overlap.Objective:We aimed to study a potential benefit of 7T MRI for (i) the differentiation ...
Ackermans L - - 2012
Tourette syndrome is a chronic neuropsychiatric disorder characterized by motor and vocal tics. In the majority of cases, tics are associated by behavioral disorders such as obsessive-compulsive behavior. First symptoms typically appear in early childhood. Mostly symptoms disappear when adulthood is reached. Treatment options consist of behavioural therapy and medication. ...
Greenbaum Larry A - - 2012
The introduction of corticosteroids more than 50 years ago dramatically improved the prognosis of children with nephrotic syndrome. Corticosteroids remain the standard initial treatment for children with this disease, but a considerable proportion of patients do not respond and are therefore at risk of progressing to end-stage renal disease. Because ...
Goeijenbier Marco - - 2012
This review presents an overview of the most important rodent-borne hemorrhagic fever pathogens directly transmitted from rodents to humans, namely Leptospira and hantaviruses, together with the New- and Old-World arenaviruses. These zoonotic diseases frequently share clinical symptoms, transmission routes and other epidemiological features and often have an emerging pattern. Differential ...
de Souza Aaron - - 2012
Extrapontine myelinolysis (EPM) is rare and usually results from osmotic stress due to inappropriate correction of electrolyte disturbances. Parkinsonism is a relatively common manifestation of EPM, seen in 60% of patients. Dopaminergic therapy leads to good recovery in many patients. Delayed extrapyramidal manifestations, including hyperkinetic movement disorders such as chorea ...
Asare Fredrick - - 2012
Complimentary alternative treatment regimens are widely used in irritable bowel syndrome (IBS), but the evidence supporting their use varies. For psychological treatment options, such as cognitive behavioral therapy, mindfulness, gut-directed hypnotherapy, and psychodynamic therapy, the evidence supporting their use in IBS patients is strong, but the availability limits their use ...
Zimmerman David C - - 2012
BACKGROUND: Compartment syndrome is a condition in which elevated pressures within an osseofascial compartment cause vascular compromise, leading to ischemia and possible necrosis. It commonly occurs after a traumatic event (e.g., fracture, crush, burn); however, compartment syndrome can happen spontaneously and in any compartment of the body. The objective of ...
Brown Nicholas F - - 2012
Heparin is well recognized for the treatment and prophylaxis of venous thrombo-embolism, and for use in acute coronary syndromes.
Wilkinson Emma - - 2012
Profs Hugo Katus and Christian Hamm discuss with Emma Wilkinson how their work on troponin has improved the diagnosis and treatment of acute coronary syndromes.
Cogan Elie - - 2012
Hypereosinophilic syndromes (HESs) are rare disorders characterized by marked hypereosinophilia that is directly responsible for organ damage or dysfunction. Different pathogenic mechanisms have been discovered in patient subgroups leading to the characterization of myeloproliferative and lymphocytic disease variants. In the updated terminology, idiopathic HES is now restricted to patients with ...
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