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Severe, fetal‐onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?
Author(s) -
Patel Millan S.,
Becker Laurence E.,
Toi Ants,
Armstrong Dawna L.,
Chitayat David
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31095
Subject(s) - cerebellum , olivopontocerebellar atrophy , neuropathology , cerebellar hypoplasia (non human) , hypoplasia , pathology , neuroscience , cerebellar vermis , fetus , context (archaeology) , cerebral cortex , cerebellar cortex , differential diagnosis , medicine , central nervous system , anatomy , biology , central nervous system disease , degenerative disease , pregnancy , disease , paleontology , genetics
We present three siblings with a precise onset of fetal seizure‐like activity who had severe olivopontocerebellar hypoplasia (OPCH) and degeneration. Autopsies at 20, 27, and 37 weeks gestation showed diffuse central nervous system volume loss that was most marked for the cerebellum and brain stem structures. Neuropathological abnormalities included dysplastic, C‐shaped inferior olivary nuclei, absent or immature dentate nuclei, and cell paucity more marked for the cerebellar vermis than the hemispheres. Delayed development was seen in layer 2 of the cerebral cortex and in Purkinje cells of the cerebellum. Prenatal monitoring defined a developmental window of 16–18 weeks gestation when ultrasonic assessment of cerebellar width was used for prenatal diagnosis. We discuss our findings in the context of the differential diagnosis for infantile (O)PCH and propose a classification scheme for the pontocerebellar hypoplasias. These patients represent the earliest reported with OPCH and provide unique information regarding the developmental neuropathology of this condition. © 2006 Wiley‐Liss, Inc.