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The ratio of acoustic myography (AMG) amplitude to surface electromyography (EMG) amplitude is proposed as a measure of mechanical output compared with electrical activity of the contractile system. AMG to EMG ratios were measured from 16 children with muscle disease diagnosed by clinical criteria, EMG, and/or muscle biopsy. These were compared with the(More)
Juvenile cerebellar astrocytoma characteristically has a very benign course and good prognosis. A case is reported of juvenile cerebellar astrocytoma with massive craniospinal leptomeningeal spread prior to surgical intervention. The patient died 8 months after the onset of symptoms and only 5 weeks after presentation to the hospital. At postmortem(More)
Aspartylglucosaminuria (McKusick 208400) is a lysosomopathy associated with aspartylglucosaminidase (L-aspartamido-beta-N-acetylglucosamine amidohydrolase, EC 3.5.1.26) deficiency. It has been most frequently encountered in Finland, where the regional incidence may be as high as 1 in 3600 births. In North America it is very rare, having been reported in(More)
The clinical, pathological, and biochemical findings in a young woman with a new variant of metachromatic leukodystrophy (MLD) are reported. The patient showed slow early development and deteriorated further during her first two decades. Nerve conductions were slow, and a sural nerve biopsy showed features of a sulfatide lipidosis. Urinary sulfatide(More)
The histopathological findings in a sural nerve biopsy of a new distinct variant of metachromatic leukodystrophy (MLD) are compared to those of classical MLD. The clinical and histological features are typical of a sulfatide lipidosis, yet in vitro activities of arylsulfatases A and B and cerebroside sulfatase are normal. Intact skin fibroblasts, when(More)
This first child of non-Jewish parents had nystagmus at 4 months of age, bilateral cherry-red macular spots at 7 months of age, and hyperacusis at 8 months of age; the patient has deteriorated progressively following a clinical course typical of Tay-Sachs disease B variant. Total beta-N-acetylhexosaminidase assayed with 4-methylumbelliferyl-beta-glucosamine(More)