Residents' Program (The Fred Wise Memorial Awards) Lesch-Nyhan Disease: An X-Linked Recessive Inborn Error of Purine Metabolism. Presented by D. N. Silvers, MD ( Prize Winner).
A 9-year-old boy was the product of an uncomplicated, full-term pregnancy and delivery. Early development was slow. At 8 months of age, he suddenly had a "seizure." By 13 months, still developing poorly, he was malnourished and excessively irritable. In addition to poor head control and inability to sit or stand, his kinetic movements were spastic. At 20 months, he began compulsively to chew his fingers and lips. In 1967, at age 51/2 years, his bone age, as judged by roentgenography, was that of a 2-year-old. In height and weight, he has always been below the 5th percentile.Six years ago, the patient was hospitalized at Willowbrook State Hospital where, upon laboratory investigation, urate crystals were found in his urine. The level of serum uric
Spoor HJ. NEW YORK ACADEMY OF MEDICINE SECTION ON DERMATOLOGY AND SYPHILOLOGY. Arch Dermatol. 1972;105(6):933-934. doi:10.1001/archderm.1972.01620090093029