J Rheum Dis.  2014 Aug;21(4):192-195. 10.4078/jrd.2014.21.4.192.

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

• Yeo Y
• Choi EY
• Yoon HJ
• Jung S
• Kim D
• Lee S
• Joo KB
• Jun JB

• KMID: 2222960
• DOI: http://doi.org/10.4078/jrd.2014.21.4.192

Abstract

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.

Keyword

Lesch-Nyhan; HPRT; Secondary gout

MeSH Terms

Arthritis, Gouty*
Humans
Hyperuricemia
Hypoxanthine Phosphoribosyltransferase
Lesch-Nyhan Syndrome*
Neurologic Manifestations*
Uric Acid
Hypoxanthine Phosphoribosyltransferase
Uric Acid

Figure

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  Figure 1. There are multiple tophi in hands, feet and ear lobes.

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  Figure 2. Ultrasonography of our patient's kidney with medullary nephrocalcinosis.

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  Figure 3. Multiple joint deformi-ties of both hands and feet are seen in simple X-rays.

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  Figure 4. HPRT deficiency due to c.46G>A (p.G16S) of HPRT1 gene.

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