Year: 2025
Type: article
Study design: Case Report
Abstract: A 13-year-old female patient, a child of first-cousin parents, presented with congenital sensorineural deafness.Neurodevelopment was mostly normal, with only minor learning difficulties and no history of seizures, raising suspicion of syndromic mutations-namely in SLC26A4, WFS1, GJB2, STRC, and YARS genes-as well as possible congenital infections.Temporal bone CT findings showed no abnormalities.Brain MRI (Figs 1, 2) revealed a constellation of malformations suggestive of Chudley-McCullough syndrome (CMS; MIM604213), including corpus callosum dysgenesis, bilateral polymicrogyria and gray matter heterotopia, and cerebellar dysplasia.Genetic testing results confirmed the diagnosis with homozygous mutation in GPSM2, a gene crucial for regulating cytoskeletal dynamics and cell polarity during stereocilia, corpus callosum, and neuronal development (1).
Source: Radiology
Authors: Rosa Couto, Mariana C. Diogo
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W4414082197