Abstract
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.
MeSH terms
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Atrophy
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Biopsy
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Brain / abnormalities*
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Brain / pathology
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Brain Stem / abnormalities
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Brain Stem / pathology
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Cerebellum / abnormalities
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Cerebellum / pathology
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Cerebral Cortex / abnormalities
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Cerebral Cortex / pathology
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Child
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Chromosome Aberrations / genetics*
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Chromosome Aberrations / pathology
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Chromosome Disorders
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Dermatomyositis / genetics*
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Dermatomyositis / pathology
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Female
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Genes, Recessive / genetics*
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Humans
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Intellectual Disability / genetics
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Intellectual Disability / pathology
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Microscopy, Electron
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Muscles / pathology
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Syndrome