Association between X-linked lissencephaly with ambiguous genitalia syndrome and lenticulostriate vasculopathy in neonate.
X-linked lissencephaly with ambiguous genitalia syndrome (XLAG) (OMIM #3000215) is a rare, severe malformation of the brain cortex with abnormal neuronal migration caused by mutations of the ARX gene. All the reported patients with lissencephaly are males who presented with a posterior-to-anterior gradient, moderately increased thickness of the brain cortex, agenesis of corpus callosum, micropenis, and cryptorchidism. We describe the neurosonographic findings associated with the XLAG syndrome. To our knowledge, the association between XLAG and lenticulostriate vasculopathy has not been reported before.
Jagła
Mateusz
M
Department of Pediatrics, Collegium Medicum of Jagiellonian University, ul. Wielicka 265, 30-663 Kraków, Poland.
Kruczek
Piotr
P
Kwinta
Przemko
P
D020144:Basal Ganglia Cerebrovascular Disease / Q000000981:diagnostic imaging* / Q000235:genetics; D001921:Brain / Q000002:abnormalities*; D041321:Chromosomes, Human, X / Q000235:genetics; D008040:Genetic Linkage; D005837:Genitalia, Male / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D013577:Syndrome; D014463:Ultrasonography