Familiar microcephaly with bilateral heterotopias of gray matter in the centrum ovale

Nardelli, E.; Rizzuto, N.

Acta Neurologica 2(1): 36-42

1980


ISSN/ISBN: 0001-6276
PMID: 7395556
Document Number: 165348
Cases (3) of microcephaly in the same family are reported. All patients presented identical features: microcephaly, tall stature, obesity, special cranial configuration, psychomotor retardation and recurrent seizures. The neuropathological examination of 1 of these cases showed large heterotopias of neurons in the centrum ovale not associated with cortical dysplasias and anoxic-ischemic damage to the brain probably related to the epileptic seizures. The familial incidence of the malformation suggests the possibility of a genetic defect with a recessive inheritance pattern.

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