Journal
NEUROPEDIATRICS
Volume 47, Issue 3, Pages 197-201Publisher
GEORG THIEME VERLAG KG
DOI: 10.1055/s-0036-1579785
Keywords
Chudley-McCullough syndrome; GPSM2; hydrocephalus; deafness; VP shunt; interhemispheric cyst
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Chudley-McCullough syndrome (CMS) is a rare autosomal recessive disorder characterized by sensorineural deafness, agenesis of the corpus callosum, frontal polymicrogyria, interhemispheric cyst, and ventricular enlargement. CMS is caused by mutations in the GPSM2 gene, but until now no more than eight different mutations are on record. We describe two dizygotic twins with a novel homozygous loss-of-function mutation (c. 1093C > T; p.Arg365*). While one child developed hydrocephalus-prompting shunt implantation immediately after birth, the other sibling did not. The combination of sensorineural hearing loss and partial agenesis of the corpus callosum is a highly recognizable clinico-radiological entity that should prompt mutational analysis of the GPSM2 gene.
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