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Memorias del Instituto de Investigaciones en Ciencias de la Salud

versão On-line ISSN 1812-9528

Resumo

HERREROS, M.B.  e  ASCURRA, M. The masa syndrome- a case report family. Mem. Inst. Investig. Cienc. Salud [online]. 2005, vol.3, n.1, pp.61-64. ISSN 1812-9528.

The MASA syndrome, Bianchine Lewis Syndrome, Gareis Masson Syndrome, Mental Retardation and adducted thumbs syndrome, Mental Retardation with adducted thumbs, Mental Retardation with congenital adducted thumbs or CRASH syndrome, is a rare form of X linked mental retardation. The main features are: mental retardation, aphasia, shuffling gait, adducted thumbs and its name comes from the first letters of these characteristics (MASA). The locus is Xq28 and the mutated gene is L1 CAM, which encodes for the neural cell adhesion molecule 1. This is the same gene of the X-Linked Hydrocephalus Spectrum and the Complicated Cerebral Palsy type 1. The majority of the patients are men although there are families with affected girls but, in general, female carriers are asymptomatic. There is a wide intra and inter clinical variety of the affected patients. Here we report the case of a 10-month old boy that was the first child of young, apparently healthy, non-consanguineous parents. He consulted with us because of psychomotor retardation and adducted thumbs. The CAT scan of the brain showed enlarged lateral ventricles and dysgenesia of the corpus callosum. The high-resolution chromosomal analysis was normal. Two maternal uncles and one brother of the maternal grandmother also had mental retardation, adducted thumbs and shuffling gait. These patients did not have either chromosomal analysis or diagnosis until now. In this paper, we highlight the importance of the accurate diagnosis of genetic syndromes, even in countries with few and not very advanced genetic analysis. Our patient was the first member of the family diagnosed and therefore the have not received the benefits of Genetic Counselling until now.

Palavras-chave : X-bound mental retardation; Syndrome; Adducted thumbs.

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