Neuroimaging fails to identify asymptomatic carriers of familial porencephaly.
Familial porencephaly is a rare condition usually transmitted as an autosomal dominant trait with incomplete penetrance. We describe a new family in which six members across four generations had congenital hemiplegia. Cerebral imaging was performed in three patients and showed porencephaly in all cases. In order to provide effective genetic counseling, three asymptomatic carriers were investigated by cerebral computerized tomography (three patients) and cerebral magnetic resonance imaging (one patient). These investigations failed to show any congenital abnormalities. We conclude that cerebral imaging is unreliable to detect obligate carriers of familial porencephaly.
Vilain
C
C
Department of Medical Genetics, Hôpital Erasme, Université Libre de Bruxelles, Belgium.
Van Regemorter
N
N
Verloes
A
A
David
P
P
Van Bogaert
P
P
D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D005808:Genes, Recessive; D006429:Hemiplegia / Q000209:etiology / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D013687:Telencephalon / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed