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Autosomal recessive inheritance of polymicrogyria and dermatomyositis with paracrystalline inclusions

De Bleecker, J.; De Reuck, J.; Martin, J.J.; Ceuterick, C.; Carton, D.; Leroy, J.

Clinical Neuropathology 9(6): 299-304

1990

ISSN/ISBN: 0722-5091
PMID: 2286022
Document Number: 351331
A 7-year-old mentally retarded girl died following subacute dermatomyositis. Muscle biopsies supported the clinical diagnosis and revealed paracrystalline inclusions on EM. The brain autopsy showed cerebral and cerebellar polymicrogyria. The clinico-pathological findings in this child are related to similar previously reported data in her older sister. The possibility of a new autosomal recessive syndrome involving both fetal brain development and childhood immunological function is discussed.

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