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Autosomal recessive inheritance of polymicrogyria and dermatomyositis with paracrystalline inclusions
J De Bleecker1, J De Reuck, J J Martin
1Department of Neurology, University Hospital, Ghent, Belgium.
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.
Insights
This study reports a rare case of subacute dermatomyositis in a child with polymicrogyria. The findings suggest a potential new autosomal recessive syndrome affecting brain development and immunity.
Area of Science:
- Neurology
- Immunology
- Genetics
Background:
- Dermatomyositis is an idiopathic inflammatory myopathy.
- Polymicrogyria is a congenital brain malformation.
Observation:
- A 7-year-old girl with intellectual disability presented with subacute dermatomyositis.
- Muscle biopsies showed paracrystalline inclusions on electron microscopy.
- Autopsy revealed cerebral and cerebellar polymicrogyria.
Findings:
- The patient's clinico-pathological findings were consistent with those of her elder sister.
- This suggests a potential inherited condition.
Implications:
- The findings point towards a novel autosomal recessive syndrome.
- This syndrome may impact fetal brain development and childhood immune function.
- Further research is needed to elucidate the genetic basis and clinical spectrum.