Periventricular heterotopia and epilepsy.
We report a family with nodular subependymal masses of heterotopic gray matter occurring in six members in four generations. Only female members of the family are affected, and there is a high rate of spontaneous abortion, consistent with X-linked dominant inheritance, and lack of viability in affected males. Both in this family and in sporadic cases of subependymal heterotopias there is a high frequency of convulsive disorders, suggesting that epilepsy may be the major clinical manifestation of this developmental defect.
Huttenlocher
P R
PR
University of Chicago, Department of Pediatrics, IL 60637.
Taravath
S
S
Mojtahedi
S
S
D000022:Abortion, Spontaneous / Q000150:complications; D000328:Adult; D000368:Aged; D002551:Cerebral Ventricle Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D002561:Cerebrovascular Disorders / Q000150:complications; D002675:Child, Preschool; D002828:Choristoma / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D004827:Epilepsy / Q000209:etiology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011247:Pregnancy