Merosin-deficient congenital muscular dystrophy associated with abnormal cerebral cortical gyration: an autopsy study

We report clinical, biopsy and autopsy findings in a merosin-deficient cong enital muscular;dystrophy (CMD) infant with abnormal cortical gyration. Bra in showed polymicrogyria and occipital agyria with marginal neuroglial hete rotopia and inferior vermis hypoplasia. There was a normal pattern of myeli nation consistent with early age. Laminin alpha 2 chain was also absent in myocardium, brain pial-glial membrane, brain and skin blood vessels as well as intramuscular and skin nerves. Occasional basal lamina gaps were found in muscle fibres but not in brain-blood vessels. This is the first autopsy study in a merosin-deficient CMD case with abnormal cortical gyration. (C) 1999 Elsevier Science B.V. All rights reserved.