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Congenital granuloprival hypoplasia of cerebellar and hippocampal cortex
S M Chou1, Y Mizuno, A D Rothner
1Department of Pathology (Neuropathology), Cleveland Clinic Foundation, OH 44106.
Insights
This study reports on two male siblings with congenital granule cell hypoplasia, a rare brain condition affecting the cerebellum and hippocampus. The findings suggest a specific granule cell insult during late pregnancy.
Area of Science:
- Neuroscience
- Developmental Biology
- Neuropathology
Background:
- Congenital granule cell hypoplasia is a rare condition affecting cerebellar development.
- Previous reports have primarily focused on cerebellar involvement, with limited information on hippocampal pathology.
Abstract:
Two siblings with congenital granule cell hypoplasia of the cerebellum and hippocampus are reported. The patients, both male, showed severe psychomotor retardation, microcephaly, hypotonia, athetosis, and seizures; they died at the ages of 3 7/12 years and 5 10/12 years, respectively. Postmortem examinations in both cases revealed nearly complete absence of the granule cells of the cerebellum with relative preservation of the Purkinje cells. Also absent were the granule cells of the fascia dentata of the Ammon's horns of the hippocampus, without any detectable gliosis; this has not previously been reported. Twenty-three autopsy cases of granuloprival cerebellar hypoplasia are reviewed. The present cases illustrate a singularly unique disease process, comparable to the classical cerebellar hypoplasia experimentally induced by parvoviruses, and suggest a granule cell specific insult to the brain during the late second trimester.