Lesch-Nyhan disease

Nephrologic follow-up includes serum uric acid measurements, in order to enable proper adjustment of allopurinol doses. Yearly ultrasound evaluations have been recommended for detection and treatment of subclinical nephrolithiasis, to prevent long-term renal complications.[41]Morino M, Shiigai N, Kusuyama H, et al. Extracorporeal shock wave lithotripsy and xanthine calculi in Lesch-Nyhan syndrome. Pediatr Radiol. 1992;22(4):304. http://www.ncbi.nlm.nih.gov/pubmed/1523062?tool=bestpractice.com

Rehabilitation doctors might monitor special-care needs such as specialized wheelchairs and communication devices. Regular follow-up visits to a neurologist (preferably one experienced in the management of Lesch-Nyhan disease [LND] and its variants) is recommended in order to educate the patient and family members. Refer to appropriate specialists if needed (e.g., special-care dentists for teeth extraction, orthopedic surgeons in case of hip dislocations or scoliosis).