Kelley-Seegmiller syndrome

Background: Hypoxanthinguanin-phosphoribosyltransferase (HPRT) deficiency, an x-linked inherited disease can cause two presentations: A complete deficiency (Lesch-Nyhan syndrome) accompanies with grave renal and neurological symptoms. A second form is the partial enzyme deficiency (Kelley-Seegmiller syndrome).

Methods: We present a thirteen year old boy with relapsing hyperuricemia and hypercreatininemia. In the framework of postoperative renal insufficiency the diagnose of a Kelley-Seegmiller syndrome was elaborated.

Results: About 25% of patients with Kelley-Seegmiller syndrome present mild neurological symptoms but never with self-destructive behavior. Pathophysiological an increased de novo purinsynthesis is present. Therefore, it comes to an overproduction of urine acid. Urolithiasis is one clinical manifestation.

Conclusions: Relapsing urolithiasis and renal insufficiency has to be worked up. In the differential diagnosis a disorder of purine metabolism has to be discussed.