Orthotic Treatments in the Management of Self-Mutilation in Lesch-Nyhan Syndrome

Abstract

A 14-year-old boy had been noticed the growth retardation at the age of 7 months and self-mutilation behavior characterized by compulsive biting of his lower lip and fingers at 18 months of age. Neurological features showed mild mental and growth retardation, spasticity and hyperreflexia of the lower extremities, choreoathetoid movements of the extremities, and compulsive self-mutilation. He was diagnosed as Lesch-Nyhan syndrome based on neurologic signs and hyperuricemia (9.8mg/dl). The hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity in erythrocytes was 0.02nmol/min/mg of hemoglobin (control value 1.76±0.06). In the HPRT gene, a guanine to adenine substitution at base position 209 in exon 3 was identified, which resulted in a single amino acid substitution of glycine with glutamic acid at codon 70. The patient bit his tongue repeatedly, which caused partial amputation. The injury in his lower lip and fingers were getting worse. We tried to prevent his behavior with a lipguard made of celluloid. We also immobilized the patient's arms with splints at the elbow. The ulcers on his lip and fingers healed completely. We wrapped the poles of the patient's bed with insulation to reduce self-inflicted head banging. This case illustrates how orthotic treatments can be useful to prevent injury by self-mutilation.