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Linn Francisca H H - - 2009
Exclusive monotherapy with zinc in symptomatic Wilson disease is controversial. Seventeen symptomatic patients with Wilson disease were treated with zinc only. The mean age at diagnosis and start of treatment was 18 years (range 13-26) with approximately half presenting as adolescents. Presentation was exclusively hepatic, exclusively neurologic, and combined in ...
Pietrini Vladimiro - - 2010
We report clinical, radiological and pathological findings in a patient with central pontine and extrapontine myelinolysis. The patient was a 61-year-old woman who had a radical mastectomy for breast cancer. Based on clinical evidence, acute hyponatremia had set in only a few days before onset of symptoms. The patient's disease ...
Mullins G M - - 2009
We report an explosive presentation of neurological Behcet disease, in an Irish male patient. We present the clinical and radiological findings in our patient and discuss a novel and effective therapeutic approach. We review other treatment modalities of patients with neurological involvement.
Luo Ming-yue - - 2009
BACKGROUND: There was a hospital outbreak of venous diethylene glycol poisoning in Guangzhou, China. It is the only massive episode of venous diethylene glycol poisoning in history. Here we report its clinical features, laboratory findings, and imaging appearances. METHODS: The clinical features of 15 venous diethylene glycol poisoning patients with ...
Reddy P - - 2009
Hyponatraemia is a commonly encountered electrolyte abnormality in hospitalised patients and is associated with significant morbidity and mortality. The fact that most cases of hyponatraemia are the result of water imbalance rather than sodium imbalance underscores the role of antidiuretic hormone (ADH) in the pathophysiology. Hyponatraemia can be classified according ...
Quintana E - - 2009
Adamowicz and colleagues raised the alert in 2007 about patients with atypical hereditary fructose intolerance (HFI) primarily misdiagnosed as CDG Ix. We describe a girl with neonatal hypertonia, facial trismus, absent swallowing and coughing reflexes, gastro-oesophageal reflux and sporadically elevated Krebs cycle metabolites and lactate. At 14 months microcephaly and hepatomegaly ...
Demircan Ahmet - - 2009
STUDY OBJECTIVE: "Mad honey" poisoning occurs from ingestion of honey produced from grayanotoxin-containing nectar, often in the setting of use as an alternative medicine. This study is designed to assess the clinical effects, demographics, and rationale behind self-induced mad honey poisoning. METHODS: The study consisted of 2 components: a standardized ...
Hartmann K - - 2009
A 37-year-old male was treated with 9 ml of 3% polidocanol foam, and he immediately reported photopsiae lasting a few minutes, though without migraine. Two hours after sclerotherapy, the patient developed speech disturbance for a few minutes. A pathological examination revealed nothing except a patent foramen ovale (PFO). Given the ...
Chen Kuang Ming - - 2009
BACKGROUND AND PURPOSE: Japanese encephalitis virus infection is a sporadic infectious disease in Taiwan. Despite progress in laboratory examinations and imaging studies, diagnosis of Japanese encephalitis remains underestimated. This study was conducted to identify clinical symptoms and laboratory findings that may assist in early identification of this disease. METHODS: This ...
Elliott Robert - - 2009
Patients with symptomatic Chiari malformation Type I (CM-I) typically exhibit a chronic, slowly progressive disease course with evolution of symptoms. However, some authors have reported acute neurological deterioration in the setting of CM-I and acquired Chiari malformations. Although brainstem dysfunction has been documented in patients with CM-II and hydrocephalus or ...
Polomský Matej - - 2012
Background: The finding of a unilaterally dilatated pupil in a patient who is otherwise alert and unimpaired can pose an interesting diagnostic problem. Algorithms have outlined the approach to evaluating anisocoria, but do not stress the importance of toxic exposures. Case Report: A patient with a history of depression and ...
Lee Hui-Young - - 2009
Glufosinate-ammonium (GLA) is a broad-spectrum herbicide used worldwide. We report a patient who attempted suicide by ingesting a liquid herbicide containing GLA. A diffusion-weighted MRI showed cytotoxic edema in the hippocampus as well as vasogenic edema in the striata. To our knowledge, vasogenic edema caused by GLA-containing herbicide involving the ...
Stöllberger Claudia - - 2009
BACKGROUND: Radiofrequency ablation for atrial fibrillation (RAF) is an increasingly performed procedure. It is performed during cardiac surgery or percutaneously by catheter. A dangerous complication of RAF is atrioesophageal fistula (AEF), which predominantly manifests neurologically owing to food embolism. Because neurologists may not be familiar with AEF and the prognosis ...
Won Sung Chul - - 2009
Posterior reversible encephalopathy syndrome (PRES) is a clinico-neuroradiologic disease entity represented by characteristic magnetic resonance image (MRI) findings of subcortical/cortical hyperintensity in T2-weighted sequences, more often observed in parieto-occipital lobes, accompanied by clinical neurologic alterations. PRES is a rare central nervous system complication in childhood hematologic-oncologic patients and shows very ...
Jalali Rakesh - - 2009
PURPOSE: To report our experience of stereotactic radiosurgery (SRS) in consecutively treated patients with arteriovenous malformations (AVMs). MATERIALS AND METHODS: Of the 87 patients, 23 patients qualified and were treated with SRS as per predefined protocol according to AVM size, location, neurological status, prior bleeding, and the AVM score. All ...
Ea Hang-Korng HK Hôpital Lariboisière, INSERM UMR-S 606, Paris, - - 2009
A deficiency in hypoxanthine guanine phosphoribosyltransferase (HPRT) activity leads to overproduction of uric acid. According to the degree of enzymatic deficiency, a large spectrum of neurologic features can also be observed, ranging from mild or no neurologic involvement to complete Lesch-Nyhan disease. Herein, we describe a patient with hyperuricemia, juvenile-onset ...
Douvoyiannis Miltiadis - - 2009
Eighty-one cases of neurologic disease, including encephalitis, meningitis, stroke, and peripheral neuropathy, that were associated with parvovirus B19 infection were reviewed. Most patients were children, and two-thirds had central nervous system manifestations. One-third had altered immunity. Viral symptoms (odds ratio [OR], 5.7; P= .002), rash (OR, 11.5; P< .001), and ...
García-Rivera Enid J - - 2009
Dengue infection has been implicated as a cause of neurologic manifestations since the beginning of the 20th century. An enhanced surveillance system for encephalitis and aseptic meningitis developed by the Puerto Rico Department of Health in collaboration with the Dengue Branch, Centers for Disease Control and Prevention, identified eleven laboratory ...
De Grandis E - - 2009
OBJECTIVE: The aim of this study is to describe the long-term neurological, neuropsychological and neuroradiological sequelae and to determine prognostic factors for neurological outcome in children with neuroblastoma-associated opsoclonus-myoclonus-ataxia (OMA) syndrome. METHODS: Data on medical history were collected for the study patients. Examinations with grading of neurological signs, neuropsychological tests ...
Kaneko Tadashi - - 2009
AIM OF THE STUDY: Serum glial fibrillary acidic protein (GFAP) has recently been identified as a specific predictor of brain damage and neurological outcome in patients with head trauma. In this study, serum GFAP was assessed as a predictor of neurological outcome in post-cardiac-arrest (PCA) patients. METHODS: This study was ...
Sithinamsuwan Pasiri - - 2009
OBJECTIVE: To determine the clinical outcomes of an aggressive combined cooling technique for exertional heatstroke in Thailand. METHODS: We analyzed patients who were diagnosed with exertional heatstroke between 1995 and 2007. Outcomes were assessed both in hospital and at 3 months follow-up. RESULTS: Twenty-eight cases of exertional heatstroke presented to ...
Thompson Patrick A PA Texas Children's Cancer Center, Baylor College of Medicine, Houston, Texas 77030-2399, - - 2009
Hemophagocytic Lymphohistiocytosis (HLH) is characterized by uncontrolled inflammation that is generally fatal without immune modulating chemotherapy. At Texas Children's Hospital, we have observed significant central nervous system (CNS) toxicity in several patients treated for HLH according to the Histiocyte Society protocol HLH-2004 in which cyclosporine is given early in the ...
Pachlopnik Schmid Jana - - 2009
Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment for Griscelli syndrome type 2, an inherited immune disorder causing fatal hemophagocytic lymphohistiocytosis (HLH). Optimal therapeutic modalities are not yet well known. We retrospectively analyzed the outcome for 10 patients who underwent HSCT in a single center between 1996 ...
Tarnacka B - - 2009
Wilson's Disease (WD) is a rare autosomal recessive disorder. The literature about proton MR spectroscopy (MRS) in WD is based mostly on data derived from patients undergoing treatment. The aim of this study was to identify brain metabolic changes in newly diagnosed WD patients using MRS to elucidate the pathomechanism ...
Hsieh Te-Chun - - 2009
Chronic subdural hematoma (SDH) is difficult to diagnose by clinical manifestations only. Nonspecific neurologic symptoms and signs may lead physicians to make other diagnoses. Although head trauma is the most common cause, it may be considered insignificant or omitted due to its minor initial manifestations. We present a patient with ...
Tunes Roberto Santos - - 2009
OBJECTIVES: The aim of this study was to describe the clinical characteristics of a series of patients with Behçet's syndrome (BS) seen at a referral centre for connective tissue diseases in Bahia, Brazil. MATERIALS AND METHODS: All the patients diagnosed as having BS by the criteria of the International Study ...
Yamamoto Takehisa - - 2009
BACKGROUND: The aim of the present study was to investigate the predictive parameters for encephalopathy in complete hemolytic uremic syndrome (HUS) in a large outbreak of O157: H7 infection in 1996. METHODS: A total of 182 inpatients, 71 of whom had complete HUS, including 12 patients with neurological complications, and ...
Wiƛniewski Marek - - 2009
The clinical manifestations of acute topiramate toxicity are described. Seven cases of acute and acute-on-chronic topiramate toxicity observed in two clinical units of Polish Poison Control Centers in 2004-2005 were analyzed. The patients were 4 women and 2 men aged between 16 and 38 (mean 21.0 +/- 8.4) years. The ...
Liu Hsin-Tzu - - 2009
OBJECTIVE: To measure urinary nerve growth factor (uNGF, essential in nerve growth and regeneration) levels in patients with a cerebrovascular accident (CVA), to determine whether uNGF could be a biomarker for predicting the neurological deficits in CVA, as the level of uNGF increases in patients with idiopathic detrusor overactivity (DO) ...
Cosson M A - - 2009
OBJECTIVE: To better delineate the natural history of patients with methylmalonic aciduria (MMA). STUDY DESIGN: Thirty patients with vitamin-B12-unresponsive MMA (25 aged 1.5 to 22.0 years (y) at the end of the study and 5 who died during a metabolic crisis) were managed following standardized guidelines and studied retrospectively. The ...
Avenel Gilles - - 2009
Syphilis is a sexually transmitted disease caused by the spirochete Treponema pallidum. A chancre usually develops initially. Organ involvement and neurological complications may occur, sometimes several years after the initial exposure. We managed two patients with syphilis responsible for joint or neurological manifestations, diagnosed in 2008. One patient presented with ...
Kyprianou N - - 2009
Phenylketonuria (PKU) is an autosomal recessive disorder resulting in neurological and intellectual disability when untreated. However, even in treated patients there may be residual neurological impairment such as tremor. It has been suggested that the hyperphenylalaninaemia in patients with PKU reduces complex I (NADH:ubiquinone reductase) activity of the mitochondrial respiratory ...
Millichap John J - - 2009
Respiratory syncytial virus is a common cause of infection in children. The authors summarize the clinical and diagnostic features of 9 patients admitted to the pediatric intensive care unit with neurological consultation. Patients were aged 5 weeks to 3 years. Four had seizures, 4 had cardiac arrest, and 1 had ...
Joffe Aaron M - - 2009
The differential diagnosis of new or worsening focal neurologic deficits on emergence from anesthesia is broad. Cerebral ischemia or hemorrhage, focal seizures, and acute metabolic abnormalities can all result in similar neurologic findings. Intravenously administered anesthetic agents also have been reported to cause new or worsening focal neurologic deficits in ...
Topakian Raffi - - 2009
Even with mild neurological signs, patients with botulism frequently complain of autonomic symptoms. This study aimed at the evaluation of sudomotor and cardiovascular reflex functions by quantitative autonomic testing (QAT), which may identify patients with autonomic involvement but otherwise benign clinical presentation. Five patients with food-borne botulism were subjected to ...
Fries Michael - - 2009
PURPOSE: Although animal studies document conflicting data on the influence of hypothermia on cytokine release in various settings, no data exist if hypothermia affects the inflammatory response after successful cardiopulmonary resuscitation. MATERIALS AND METHODS: Arrest- and treatment-related variables of 71 patients were documented, and serum samples were analyzed for levels ...
Kennedy April S - - 2009
BACKGROUND: Patients with apparent complete recovery from thrombotic thrombocytopenic purpura (TTP) often complain of problems with memory, concentration, and fatigue. STUDY DESIGN AND METHODS: Twenty-four patients who were enrolled in the Oklahoma TTP-HUS Registry for their initial episode of TTP, 1995-2006, and who had ADAMTS13 activity of less than 10 ...
Longo Nicola - - 2009
Defects in the metabolism or regeneration of tetrahydrobiopterin (BH4) were initially discovered in patients with hyperphenylalaninaemia who had progressive neurological deterioration despite optimal metabolic control (malignant hyperphenylalaninaemia). BH4 is an essential cofactor not only for phenylalanine hydroxylase, but also for tyrosine and two tryptophan hydroxylases, three nitric oxide synthases, and ...
Ben Turkia H - - 2009
The natural history and clinical presentation of the perinatal-lethal Gaucher's disease, a severe variant of acute type 2 Gaucher's disease, is quite different from classic type 2 Gaucher's disease. Rare reported patients had an overlapping phenotype between these two forms confirming that phenotyping may be difficult. Here we report three ...
Manegold C - - 2009
BACKGROUND: Aromatic L-amino acid decarboxylase (AADC) deficiency is a disorder of biogenic amine metabolism resulting in generalized combined deficiency of serotonin, dopamine and catecholamines. Main clinical features are developmental delay, muscular hypotonia, dystonia, oculogyric crises and additional extraneurological symptoms. Response to therapy has been variable and unsatisfactory; the overall prognosis ...
Gunther Peter
<b>Objectives</b> : Fine motor skills disorders belong to the neurological manifestation of Wilson&#x2032;s disease. The aim of this study is to investigate if fine motor performance changes during the course of the disease and with therapy. <b> Methods</b> : In 15 neurological patients with Wilson&#x2032;s disease, severity of neurological symptoms ...
Lepur Dragan - - 2009
The objective of this open cohort study was to assess the association between neurological complications in patients with definite native-valve infective endocarditis (IE) and cerebral microembolism (MES). MES detection was performed with 1-h, bilateral middle cerebral arteries (MCA) insonation using a transcranial Doppler ultrasound (TCD) machine. Thirty patients with definite ...
Abul-Kasim Kasim - - 2009
There is an ongoing controversy about the significance of tonsillar ectopia among patients with idiopathic scoliosis (IS). To find out if tonsillar ectopia occurs more frequently among patients with IS and if it plays any etiological or prognostic role in IS. Retrospective study. Retrospective analysis of 155 consecutive spine MRIs ...
Anand Jacek Sein - - 2009
Four cases, including three adults and one child, suffering from acute poisoning with Tricholoma equestre were described. The patients had eaten from 100 to 400 grams of the mushroom within a few consecutive meals. After consuming about 1000 grams of Tricholoma equestre for 3-4 days, the subjects developed fatigue, muscle ...
Sethi Prahlad - - 2008
The craniovertebral (CV) junction can be involved in many diseases, e.g. rheumatoid arthritis, as well as destructive bone pathologies such as tumour and tuberculosis (craniovertebral Pott's disease). While some of these patients present acutely with neck pain and neurological deficits, in others the signs and symptoms may be more subtle. ...
Lavon Ophir - - 2008
BACKGROUND: Scombroid fish poisoning is an acute illness caused by consumption of fish containing high concentrations of histamine. Improper handling of fish leads to bacterial contamination. Bacterial enzymes convert histidine to histamine. Symptoms develop quickly and resemble an immunoglobulin E-mediated allergic reaction. The diagnosis is often missed. Serious complications (e.g., ...
Schiffmann Raphael - - 2008
To evaluate the efficacy and safety of miglustat, concomitant with enzyme replacement therapy (ERT), in patients with Gaucher's disease type 3 (GD3). This 24-month, phase II, open-label clinical trial of miglustat in GD3 was conducted in two phases. During the initial 12 months, patients were randomized 2:1 to receive miglustat ...
Kuitwaard K - - 2009
BACKGROUND: Guillain-Barré syndrome (GBS) is generally considered to be monophasic, but recurrences do occur in a presently undefined subgroup of patients. OBJECTIVES: To determine which subgroup of patients develops a recurrence and to establish whether preceding infections and neurological symptoms are similar in subsequent episodes. METHODS: A recurrence was defined ...
Okumura Akihisa - - 2009
OBJECTIVE: To clarify the features of delirious behavior in patients with acute necrotizing encephalopathy. METHODS: We retrospectively evaluated the clinical course of 38 children with acute necrotizing encephalopathy diagnosed on the basis of neuroradiological findings. The patients were divided into two groups according to the presence or absence of delirious ...
Slobbe L - - 2008
Ciguatera toxicity is a type of seafood poisoning caused by the consumption of ciguatoxic reef fish. We describe two patients with characteristic gastrointestinal and neurological symptoms, both of whom had eaten local seafood. Although mortality is low, morbidity can be considerable due to debilitating symptoms. Most cases originate in the ...
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