Purkinje cell inclusions and 'atelencephaly' in 13q-chromosomal syndrome

J. Towfighi, R. L. Ladda, F. E. Sharkey

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Abstract

Severe microcephaly was present from birth in a child with a 13q-chromosomal syndrome [46,XY,del (13)(q22q31)]. He died at 20 months of age. Neuropathologic findings included atelencephaly and eosinophilic cytoplasmic inclusions in cerebellar Purkinje cells. Ultrastructurally, the inclusions consisted of stacks of parallel cisternae separated by electron-dense granular material. The relationship between these inclusions and the smaller cytoplasmic inclusions known as 'lamellar bodies' is discussed, and the central nervous system malformations in this syndrome are reviewed.

Original languageEnglish (US)
Pages (from-to)146-150
Number of pages5
JournalArchives of Pathology and Laboratory Medicine
Volume111
Issue number2
StatePublished - Jan 1 1987
Externally publishedYes

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ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medical Laboratory Technology

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