title: Focal pachypolymicrogyria in three siblings.
abstract: The malformation of focal pachypolymicrogyria might be the manifestation of an X-linked recessive disorder according to the results of this study. Three siblings revealed focal pachypolymicrogyria on magnetic resonance imaging (MRI) and had a strong family history of epilepsy and mental retardation. All three siblings had the same mother; the father of Patient 1 was not related to the mother, but the father of Patients 2 and 3 was related to her. The MRI of the father of Patients 2 and 3 demonstrated focal pachypolymicrogyria. The mother's MRI was normal. In this family, epilepsy or mental retardation was found mainly in the males (Patient 3 was an exception), and they were all born to female members of this family, not male. Patient 3 was probably a homozygote with an X-linked recessive inheritance, and therefore, she demonstrated the most severe clinical findings.
authors.affiliation: Department of Pediatrics, Tosa Municipal Hospital, Kochi Medical School, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Yoshimura
authors.forename: F
authors.initials: F
authors.lastname: Hamada
authors.forename: T
authors.initials: T
authors.lastname: Tomoda
authors.forename: H
authors.initials: H
authors.lastname: Wakiguchi
authors.forename: T
authors.initials: T
authors.lastname: Kurashige
mesh_terms: D000293:Adolescent; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002525:Cerebellar Cortex / Q000002:abnormalities / Q000473:pathology; D002540:Cerebral Cortex / Q000002:abnormalities / Q000473:pathology; D002648:Child; D003241:Consanguinity; D004827:Epilepsy / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D005260:Female; D018628:Gene Dosage; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014960:X Chromosome