Periventricular small cystic lesions in a patient with Coffin-Lowry syndrome who exhibited a novel mutation in the RPS6KA3 gene.
Brain Dev
; 40(7): 566-569, 2018 Aug.
Article
em En
| MEDLINE
| ID: mdl-29678278
ABSTRACT
BACKGROUND:
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. CASE 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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Encéfalo
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Mutação de Sentido Incorreto
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Síndrome de Coffin-Lowry
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Proteínas Quinases S6 Ribossômicas 90-kDa
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
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Humans
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Male
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article