[X-linked lissencephaly with absent corpus callosum and abnormal genitalia: a report of siblings followed from the prenatal period].
X-linked lissencephaly with absent corpus callosum and abnormal genitalia (XLAG) is caused by a mutation in the ARX gene. We herein report the clinical course of siblings with XLAG with a splicing mutation in ARX. Seizures were observed in utero. Cerebral atrophy was progressive postnatally, and fetal echoencephalography indicated that the atrophy might have started in the prenatal period. They had a typical phenotype, except that the genital abnormality of the younger brother was not remarkable. A portal-systemic shunt that has not been reported in cases with XLAG was seen in the older brother. The siblings had the different complications and severity of disease in spite of possessing the same mutation.
Nanba
Yukiko
Y
Division of Child Neurology, Institute of Neurological Sciences, Tottori University School of Medicine, Yonago, Tottori. nanba-y@ncchd.go.jp
Oka
Akira
A
Ohno
Kousaku
K
D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D003337:Corpus Callosum / Q000000981:diagnostic imaging; D050172:Genes, X-Linked; D005837:Genitalia, Male / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008297:Male; D017354:Point Mutation; D035781:Siblings; D016216:Ultrasonography, Prenatal; D014564:Urogenital Abnormalities / Q000235:genetics*