Merosin-deficient congenital muscular dystrophy with cerebral white matter changes: a clue to its diagnosis beyond infancy.

ABSTRACT: A 6-year-old boy born by a third-degree consanguineous marriage presented with progressive muscle weakness and delayed motor milestones noticed in early infancy with preserved language and social milestones. Examination revealed generalised hypotonia and hyporeflexia. Baseline haematological and biochemical investigations were normal except for mildly elevated creatine kinase. Provisional diagnosis of congenital myopathy was entertained. We performed brain imaging to look for abnormalities associated with congenital muscular dystrophy even though there were only features of myopathy with normal mentation. An MRI of the brain revealed periventricular and subcortical white matter hyperintensities suggestive of leucoencephalopathy. Muscle biopsy findings were consistent with degenerative musc

SUBMITTER: Kumar S 

PROVIDER: S-EPMC3948005 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature