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The dystrophin gene deletion patterns of Duchenne/Becker dystrophy were investigated in 57 DMD, 7 BMD and 1 DMD-BMD intermediate muscular dystrophy patients. Deletions, analyzed by multiplex amplification of selected exons, were observed in 58% (38 cases) of the patients. It was found that exon 48 was the most frequently affected, while exon 44 was the(More)
Congenital muscular dystrophy (CMD) is a heterogeneous group of disorders which is associated with more or less degrees of cerebral involvement. There are four separate entities within CMD nosology. Among these Fukuyama's CMD (FCMD) is highly prevalent in Japan, whereas the classic form with normal or subnormal intelligence, also known as the occidental(More)
A total of 72 EEGs from 57 patients with SSPE were studied. The EEG studies in SSPE revealed periodic high amplitude complexes in all except one. Besides periodic complexes, we found several atypical EEG findings including frontal rhythmic delta activity in intervals between periodic complexes, electrodecremental periods following EEG complexes, diffuse(More)
Sixteen children with definite multiple sclerosis (MS; aged 6-17 years, mean 11.4 +/- 2.7; 8 boys, 8 girls) were reviewed. Cerebellar symptoms and signs were frequent at initial presentation. Among laboratory studies, the cerebrospinal fluid (CSF) IgG index or oligoclonal bands were informative in 75%, evoked potentials in 70%, electroencephalography (EEG)(More)
Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterised by loss of motor function and muscle atrophy due to anterior horn cell degeneration. The most common variant is chromosome 5-linked proximal SMA, ranging in severity from congenital onset and infantile death to onset in adult life. Genetically separate variants(More)
We treated 22 patients with subacute sclerosing panencephalitis (SSPE) with intraventricular alpha-interferon (IFN) and inosiplex PO and followed them for 2 to 54 months. Three deaths occurred. Clinical improvement, demonstrated by decreasing scores on the Neurological Disability Index, occurred in 11/22 (50%); five patients became stable, and the(More)
PURPOSE To define various cranial MR appearances in Wilson's disease (WD). MATERIAL AND METHODS MR examinations of 30 patients (9-44 years old) with WD were retrospectively reviewed. Six patients were asymptomatic siblings. Three other patients had isolated hepatic involvement, one with no symptoms. The remaining 21 patients had neurological involvement,(More)
A prospective evaluation was made in a total of 19 patients with Guillain-Barré syndrome (GBS) by neurologic examination, visual evoked potentials (VEP), brain-stem auditory evoked potentials (BAEP) and somatosensory evoked potentials (SEP) during the acute phase of the disease, three weeks later, and then again three months after the onset of symptoms. The(More)
We present the case of an unusually located intracranial lipoma in a 17-year-old patient with partial epilepsy who was being controlled with medication. The lipoma was located deep in the left sylvian fissure, in the inferior parietal lobule, associated with cortical dysplasia of the surrounding supramarginal gyrus. Abnormal vasculature was detected(More)
Neurological form of Wilson's disease in children usually manifests with dystonia as the initial sign. Tremor of extremities, dysarthria and ataxia may follow. Copper deposits in gray and white matter along with the basal ganglia. A pediatric case presenting with tremor of the tongue and dysarthria as the only findings of Wilson's disease is reported.(More)