Resumo

MONROY DELGADILLO, Manuel Antonio; FLORES SAAVEDRA, Sthephany  e  ROJAS SALAZAR, Enrique Gonzalo. Lesch-Nyhan syndrome, report of a case. Gac Med Bol [online]. 2012, vol.35, n.2, pp.90-92. ISSN 1012-2966.

Lesch Nyhan syndrome is a rare disease whose incidence is 1/380 000 of live births and whose main manifestations appear between 3 and 6 months of age, and is due to an inborn error of purine metabolism, which is caused by a mutation of the structural gene located on the X chromosome, which determines a deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase. This enzyme does not allow the conversion of hypoxanthine to inosine, which causes uric acid level rises above normal mainly affecting the brain and kidneys, causing disorders that develop this syndrome. We report a case of a seven year old, diagnosed with Lesch Nyhan syndrome, with features such as self-inflicted injuries consistent bite on the tongue, lips, cheeks and fingers, accompanied by tophi and bone disorders in accordingly lower limbs elevated uric acid. For this syndrome no specific treatment, only palliative.

Palavras-chave : pregnancy; ectopic; gynecological urgency; emergency treatment.