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Miyata, Yohane; Saida, Ken; Kumada, Satoko; Miyake, Noriko; Mashimo, Hideaki; Nishida, Yuya; Shirai, Ikuko; Kurihara, Eiji; Nakata, Yasuhiro; Matsumoto, Naomichi
Brain & development (Tokyo. 1979), 08/2018, Letnik: 40, Številka: 7Journal Article
Coffin-Lowry syndrome is a rare X-linked disease, caused by loss-of-function mutations in the RPS6KA3 gene. Patients exhibit severe intellectual disability with characteristic dysmorphism. As there are no specific laboratory findings to support the diagnosis of Coffin-Lowry syndrome, it may be difficult to diagnose—especially in young children, where the characteristic craniofacial features are less discernible. Here we report on a 2-year-old boy with Coffin-Lowry syndrome with a novel missense mutation in the RPS6KA3 gene. On magnetic resonance imaging, his brain exhibited periventricular signal abnormalities with multiple small cystic lesions. These findings may aid in diagnosis of Coffin-Lowry syndrome.
