Resumo

PILA PEREZ, Rafael; PILA PELAEZ, Rafael; ROSALES TORRES, Pedro  e  HOLGUIN PRIETO, Víctor. Fragile X Syndrome, Diabetes Mellitus Type 1 and Malabsorption Syndrome. Medisur [online]. 2011, vol.9, n.6, pp. 583-588. ISSN 1727-897X.

The case of a 28 years old patient with a diagnosis of fragile X syndrome, type 1 diabetes mellitus and malabsorption syndrome caused by giardias is presented. Fragile X syndrome is a rare entity. This particular association with the other two conditions has become the first case reported in the country. Some of the genetic characteristics of this syndrome are presented as well as the main clinical and diagnostic features. Therapeutic procedures followed with this patient are also stated. It was concluded that fragile X syndrome is one of the most common hereditary disorders and is unknown for most of the population and health professionals. Therefore, it is necessary to spread knowledge on this issue so that families with mentally retarded patients can receive the appropriate genetic counseling. Key words: Fragile x syndrome; diabetes mellitus type I; malabsorption syndromes

Palavras-chave : fragile x syndrome; diabetes mellitus type I; malabsorption syndromes.