A Case of Lesch-Nyhan Syndrome Manifesting Only Chronic Gouty Arthritis without Neurologic Symptom

Deficiency of hypoxanthine-guanine phosphoribosyltransferase is a purine nucleotide disorder and is the most common genetic cause of uric acid overproduction. This disease has a wide range of spectrum with regard to neurological features depending on the extent of the enzymatic deficiency. Complete deficiency of hypoxanthine-guanine phosphoribosyltransferase, called Lesch-Nyhan syndrome, is presented with hyperuricemia and characteristic neurological manifestation and self-mutilation. Partial hypoxanthine-guanine phosphoribosyltransferase--deficient patients are presented with a various intensities of the aforementioned symptoms, from almost normal neurologic manifestation to a severe form along with hyperuricemia. We report a twenty-year-old man with complete hypoxanthine-guanine phosphoribosyltransferase mutation and Lesch-Nyhan sydrome, who manifested gouty arthritis without neurologic symptom.

A Case of Retropharyngeal Calcific Tendinitis in a Patient with Ankylosing Spondylitis

Retropharyngeal calcific tendinitis, also known as calcific tendinitis of the longus colli muscle, was first described by Hartley in 1964. It is caused by deposition of calcium hydroxyapatite crystals in the longus colli muscles from C1 to C3. Retropharyngeal calcific tendinitis is diagnosed radiologically by the detection of amorphous calcification and pre-vertebral soft tissue swelling. Twelve cases of retropharnygeal calcific tendinitis have been reported in the Korean literature, but no cases with ankylosing spondylitis. In this case, we report an unusual case of retropharyngeal calcific tendinitis with ankylosing spondylitis.