Resumen
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.
Idioma original | English (US) |
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Páginas (desde-hasta) | 146-150 |
Número de páginas | 5 |
Publicación | Archives of Pathology and Laboratory Medicine |
Volumen | 111 |
N.º | 2 |
Estado | Published - 1987 |
Publicado de forma externa | Sí |
ASJC Scopus subject areas
- Pathology and Forensic Medicine
- Medical Laboratory Technology