SciELO - Scientific Electronic Library Online

vol.35 número2Características tomográficas en un paciente con Síndrome de Fahr, a propósito de un casoLa desesperanza aprendida. Su influencia en el aprendizaje y el desempeño académico de los estudiantes índice de autoresíndice de materiabúsqueda de artículos
Home Pagelista alfabética de revistas  

Servicios Personalizados



Links relacionados

  • No hay articulos similaresSimilares en SciELO


Gaceta Médica Boliviana

versión On-line ISSN 1012-2966


MONROY DELGADILLO, Manuel Antonio; FLORES SAAVEDRA, Sthephany  y  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.

Palabras clave : pregnancy; ectopic; gynecological urgency; emergency treatment.

        · resumen en Español     · texto en Español


Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License