Trauma is a major problem in both developing and developed countries. World wide road-traffic injuries (RTIs) represent 25% of all trauma deaths. Injuries cause 12% of the global disease burden and are the third commonest cause of death globally.
View Article and Find Full Text PDFNeuropediatrics
December 1998
We report on two brothers (the product of first-degree consanguineous marriage; aged 15 and 12 years) who presented with severe hypotonia at birth, proximal muscle weakness associated with delayed motor milestones but normal cognitive function. Investigations (at 4 years of age) revealed mildly elevated serum creatine kinase (CK) levels (300 and 824 IU/l; N < or = 210). Muscle biopsies showed minimal change myopathy, no neurogenic atrophy but remarkable type-1 fibre predominance (up to 85.
View Article and Find Full Text PDFCongenital muscular dystrophy (CMD) is a group of clinically and genetically heterogeneous disorders inherited in an autosomal recessive mode. The alpha2-chain of laminin-2 (previously called merosin) has been shown by immunohistochemical and genetic analyses to be implicated in the pathogenesis of the 'classic' form of CMD. In the 'merosin-deficient' subgroup, which represents about half of the cases, more definite evidence of the involvement of the laminin alpha2-chain has recently been reported with the identification of mutations in the gene encoding the alpha2-chain of laminin 2 (LAMA2) in CMD patients.
View Article and Find Full Text PDFSubacute sclerosing panencephalitis is characterized by the insidious onset of diffuse cerebral dysfunction associated later with myoclonus and typical electroencephalographic changes. The disease progresses relentlessly to coma and death within 2 years. We report a case of acute onset and rapid course associated with atypical CSF, EEG and MRI features simulating acute disseminated encephalomyelitis.
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