2009 Southern Regional Meeting Abstracts

Case Report: Kelley-Seegmiller Syndrome is a well described X-linked deficiency of HGPRT (Hypoxanthine-guanine phosphoribosyl transferase), an enzyme involved in purine metablolism. This syndrome leads to a spectrum of phenotypes similar but less intense than those described in the related Lesch-Nyhan Syndrome. Awareness of Kelley-Seegmiller Syndrome is important for early diagnosis, treatment, and counseling to improve morbidity from the disease.
A 54 year old man was admitted for a debilitating gout flare; movement caused severe pain. He reported no fever or chills. Baseline function included the ability to feed and groom himself. Past medical and surgical history was significant for severe tophaceous gout, acute renal failure, removal of multiple gouty tophi, and finger and toe amputations. Medications were Colchicine, allopurinol, and Indocin. One brother had gout. He had a prior history of alcohol use. On physical exam he was cachectic, in moderate distress, tachycardic, with multiple, large ulcerating tophi on all extremities proximally and distally. Neurologic exam was normal. Labs: BUN/Creatinine 36/1.5, uric acid level 12.5.
Kelley-Seegmiller Syndrome usually presents in adolescence or early adults with symptoms ranging from gouty tophi with or without nephrolithiasis to mild neurologic disorder. These patients do not self mutilate. Diagnosis consists of HGPRT deficiency (not absence) with elevated blood and urine levels of uric acid. Pathogenesis appears to come from mutations in the gene encoding HGPRT resulting in proteins of the same length but decreased function, separating it from Lesch-Nyhan Syndrome in which mutations change protein length. At age 36, our patient’s 24 hour urine uric acid level was elevated at 904 mg with a normal renal ultrasound; baseline serum uric acid was elevated. Genetic testing was sent at age 48 and HGPRT level was deficient at 17 (low normal 200) with 8.5% HGPRT activity remaining. He experienced difficulty related to tophi and decreased renal function. Had a genetic deficiency been diagnosed early, morbitity secondary to decreased kidney function and tophi may have decreased with proper counseling and treatment. If a young patient exhibits signs of severe gout and tophi, consider genetic deficiency to improve long term morbidity.