11/173. Eosinophilic pleural effusion due to dantrolene: resolution with steroid therapy.A quadriplegic patient with severe spasticity, treated with dantrolene (400 mg daily) for 5 years, had dyspnea, orthopnea, hypoxia, and right-sided opacity of the chest on radiograph. At thoracentesis, an exudative effusion containing 64% eosinophils was documented, with simultaneous peripheral eosinophilia of 11%. An allergic reaction to dantrolene was postulated. Despite withdrawal of the offending medication and repeated thoracenteses, symptomatic recurrence of effusion persisted for 4 days. After institution of prednisone therapy, rapid resolution of symptoms, signs, hypoxia, and radiologic abnormalities was observed. In contrast to five previously reported cases of dantrolene-associated eosinophilic pleural effusion (EPE), ours represents the first in which the patient was treated with steroids and suggests that steroid therapy may be of benefit in drug-related EPE.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
12/173. Four siblings with Hallervorden-Spatz disease.We reported four cases of Hallervorden-Spatz disease. All four siblings (three males and one female) in the family are affected. The first symptoms of the disease were spastic paraparesis and optic atrophy followed by trunkal dystonia and lower motor neurone involvement. The average age of the onset was 4.25 years. The diagnosis was made at the ages of 17, 14, 11 and 10 years. The diagnosis was confirmed clinically, electrophysiologically and by MRI. On MRI scans all patients demonstrated hypointense areas in globus pallidus. There is neither specific treatment nor prenatal diagnosis.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
13/173. Radioisotopic control for baclofen pump catheter failure.STUDY DESIGN: Case report of baclofen pump catheter failure investigated by radioisotope injection. OBJECTIVES: To report a safe and reliable method for evaluating catheter dysfunction. SETTING: france. methods: Single case report of failure of baclofen pump investigated by radioisotope injection. RESULTS: The injection demonstrated the block in the catheter. The catheter failure was not visualised by plain X-ray nor by filling the pump with radio-opaque solution. CONCLUSION: Catheter failure is a common cause of intrathecal drug delivery problems and may be difficult to diagnose. When catheter disconnection, kink, or dislodgement is not visible on X-ray, radioisotopic control is a safe and reliable method for assessment.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
14/173. siblings with development delay, mild spasticity and subcortical cysts: a further leukoencephalopathy?We present a family with mild neurological symptoms and intra-cerebral subcortical cysts on magnetic resonance imaging (MRI). Common clinical features are microcephaly, learning difficulties, spasticity, dyspraxia and restricted movements of the neck and shoulder. The family has features in common with vacuolating leukoencephalopathy of van de Knaap and Olivier and may represent a new variant.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
15/173. Satoyoshi syndrome.Satoyoshi syndrome is a very rare disorder of unknown etiology, characterized by progressive, intermittent, painful muscle spasms, alopecia universalis, diarrhea or unusual malabsorption, various endocrine disorders, and secondary skeletal abnormalities. This report describes a 9-year-old Thai girl who developed alopecia universalis when she was 6 years old. At age 7 years, she began to have recurrent, painful muscle spasms. The spasms progressed in time, producing recurrent patella dislocation. The laboratory investigations and radiologic study were compatible with Satoyoshi syndrome. She was treated with oral corticosteroid therapy, with marked improvement of her muscle spasms and alopecia. She underwent corrective surgery for deformities of both knees with a normal healing process.- - - - - - - - - - ranking = 4keywords = ms (Clic here for more details about this article) |
16/173. Stiff leg syndrome: case report.We report on a 28-year-old woman with insulin-resistant diabetes mellitus with a 5-year history of progressive stiffness and painful spasms of the right leg, exaggerated by sudden auditory and tactile stimuli or by emotional stress. There were no signs of truncal rigidity or exaggerated lumbar lordosis. Anti-glutamic acid decarboxylase antibodies were positive in her serum. She improved substantially with clonazepam 4 mg/day. She presented with electrophysiological findings not previously reported in stiff leg syndrome, which may suggest increased inhibition in the uninvolved upper extremities.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
17/173. friedreich ataxia with minimal GAA expansion presenting as adult-onset spastic ataxia.Around a quarter of friedreich ataxia (FA) patients, despite being homozygous for GAA expansion within the FRDA gene, show atypical presentations. Our aim is to describe the case of three brothers with long-term follow-up suffering from late onset FA manifested with spastic ataxia. The three patients belong to a family with occipital dysplasia (OD) and Chiari I malformation previously reported by us. We have carried out serial examinations since 1977. Electrophysiological and neuroimaging studies, and molecular genetic analyses of hereditary ataxias are available in all three patients. Onset of symptoms occurred between 25 and 35 years. The clinical picture consisted of progressive spastic gait, truncal and limb ataxia, dysarthria, nystagmus, hyperreflexia with knee and ankle clonus and extensor plantar response, and mild hypopallesthesia. Ages at present vary between 50 and 59. One patient is wheelchair-bound but the other two are able to walk with support. Leaving OD aside, skeletal anomalies are not prominent. All three patients showed cardiomyopathy. MR imaging revealed atrophy of the cerebellum and spinal cord. Motor and sensory nerve conduction velocities were normal. Central conduction time of both motor and sensory pathways was delayed or unobtainable. All three patients were homozygous for the GAA expansion, the smaller expanded allele ranging between 131 and 156 repeats. Four heterozygotic carriers were detected among non-ataxic relatives including one with OD; furthermore, an asymptomatic OD patient showed normal genotype. We conclude that adult onset spastic ataxia is a distinctive FA phenotype associated with minimal GAA expansion. This phenotype represents a new cause of selective distal degeneration of central sensory axons. The present concurrence of OD and FA reflects coincidental cosegregation of two different inherited disorders.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
18/173. Episodic coma in a new leukodystrophy.Among the leukodystrophies of a hypomyelinating nature, childhood ataxia with diffuse central nervous system hypomyelination exhibits the unique feature of rapid decrease in mental status after relatively minor head injuries or otherwise noncomplicated febrile illnesses. This article reports the case of a child with progressive spastic quadriparesis in whom unconsciousness developed repeatedly as a result of minor head trauma and required prolonged critical-care nursing. Although cognition is believed to be relatively preserved in this disorder, this child developed progressive cognitive decline. A detailed review of the literature is presented along with discussion of the potential mechanisms of neurologic deterioration.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
19/173. Constant involvement of the Betz cells and pyramidal tract in amyotrophic lateral sclerosis with dementia: a clinicopathological study of eight autopsy cases.We investigated clinicopathologically pyramidal signs, including hyperreflexia, Babinski sign, and spasticity, and the involvement of the primary motor cortex and pyramidal tract, in eight Japanese autopsy cases of amyotrophic lateral sclerosis (ALS) with dementia. Pyramidal signs were observed in seven (88%) of the eight autopsy cases. Hyperreflexia and Babinski sign were evident in seven (88%) and three (38%) patients, respectively, but spasticity was not observed in any of the eight patients. Loss of Betz cells in the primary motor cortex was evident in the seven cases in which this structure was examined. Astrocytosis in the fifth layer of the primary motor cortex was noticed in three cases. In all eight cases, involvement of the pyramidal tract was obvious in the medulla oblongata, but no involvement of the pyramidal tract was found in the midbrain. Involvement of the pyramidal tract in the spinal cord, particularly of large myelinated fibers, was observed in all six cases in which the spinal cord was examined. In ALS with dementia, pyramidal signs were shown to be present more frequently than previously believed, and the clinicopathological correlation between pyramidal signs and involvement of the pyramidal tract was obvious. Constant involvement of Betz cells and the pyramidal tract in ALS with dementia has not been reported. Our clinicopathological findings may make a contribution to the understanding of the clinicopathological hallmarks of this disorder. Furthermore, we believe that this study will also contribute to the elucidation of the nosological status of ALS with dementia.- - - - - - - - - - ranking = 3294.3135917075keywords = sclerosis (Clic here for more details about this article) |
20/173. X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX.OBJECTIVE: To describe a new syndrome of X-linked myoclonic epilepsy with generalized spasticity and intellectual disability (XMESID) and identify the gene defect underlying this disorder. methods: The authors studied a family in which six boys over two generations had intractable seizures using a validated seizure questionnaire, clinical examination, and EEG studies. Previous records and investigations were obtained. Information on seizure disorders was obtained on 271 members of the extended family. Molecular genetic analysis included linkage studies and mutational analysis using a positional candidate gene approach. RESULTS: All six affected boys had myoclonic seizures and TCS; two had infantile spasms, but only one had hypsarrhythmia. EEG studies show diffuse background slowing with slow generalized spike wave activity. All affected boys had moderate to profound intellectual disability. Hyperreflexia was observed in obligate carrier women. A late-onset progressive spastic ataxia in the matriarch raises the possibility of late clinical manifestations in obligate carriers. The disorder was mapped to Xp11.2-22.2 with a maximum lod score of 1.8. As recently reported, a missense mutation (1058C>T/P353L) was identified within the homeodomain of the novel human Aristaless related homeobox gene (ARX). CONCLUSIONS: XMESID is a rare X-linked recessive myoclonic epilepsy with spasticity and intellectual disability in boys. Hyperreflexia is found in carrier women. XMESID is associated with a missense mutation in ARX. This disorder is allelic with X-linked infantile spasms (ISSX; MIM 308350) where polyalanine tract expansions are the commonly observed molecular defect. Mutations of ARX are associated with a wide range of phenotypes; functional studies in the future may lend insights to the neurobiology of myoclonic seizures and infantile spasms.- - - - - - - - - - ranking = 3keywords = ms (Clic here for more details about this article) |
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