Long-Term Follow-Up of Ten Patients with Lesch-Nyhan Syndrome

Abstract

Ten cases of Lesch-Nyhan syndrome have been followed for 3-19 years (mean, 11 years and four months). Criteria of Lesch-Nyhan syndrome were restricted to the following: complete absence of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in hemolysate and fibroblast, spasticity, choreoathetosis, mental retardation, self-mutilation, and occurrence in males. Two patients have died of pneumonia and two died suddenly. However, autopsies produced no positive findings. Hyperuricemia has been controlled by benzbromarone in nine patients. One patient did not take any medical treatment and died suddenly when he was 19 years old, but showed no gouty signs. Patients with Lesch-Nyhan syndrome indicated no change or aggravation of choreoathetosis or spasticity. Self-mutilation was difficult to control by any treatment with continuing effect. After the age of ten, self-mutilation declined in seven cases, and in one patient disappeared completely. Mental delay was remarkable and suspected developmental age (DA) was 7 months - four years and 10 months (chronological age, 7 years and five months - 19 years and 6 months). Mean DQ score was 15.6. Physical development was severely delayed, and weight age was 28.9-46.4%, mean 37.4% of chronological age.
Future investigations will evolve clarification of CNS signs and its treatment, and etiological research of sudden death.

Key words

Lesch-Nyhan syndrome - Inborn error of purine metabolism - Hypoxanthine-guanine phosphoribosyl-transferase - Self-mutilation - Choreoathetosis