title: Normal uricemia in Lesch-Nyhan syndrome and the association with pulmonary embolism in a young child-a case report and literature review.
abstract: Deficiency of hypoxanthine phosphoribosyltransferase activity is a rare inborn error of purine metabolism with subsequent uric acid overproduction and neurologic presentations. The diagnosis of Lesch-Nyhan syndrome (LNS) is frequently delayed until self-mutilation becomes evident. We report the case of a boy aged 1 year and 10 months who was diagnosed with profound global developmental delay, persistent chorea, and compulsive self-mutilation since the age of 1 year. Serial serum uric acid levels showed normal uric acid level, and the spot urine uric acid/creatinine ratio was >2. The hypoxanthine phosphoribosyltransferase cDNA showed the deletion of exon 6, and the boy was subsequently diagnosed to have LNS. He also had respiratory distress due to pulmonary embolism documented by chest computed tomography scan. This report highlights the need to determine the uric acid/creatinine ratio caused by increased renal clearance in LNS in young children. The presence of pulmonary embolism is unusual and may be the consequence of prolonged immobilization.
authors.affiliation: Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan; Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan.
authors.forename: Jeng-Dau
authors.initials: JD
authors.lastname: Tsai
authors.affiliation: Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan; Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan.
authors.forename: Shan-Ming
authors.initials: SM
authors.lastname: Chen
authors.affiliation: Department of Pediatrics, Jen-Ai Hospital, Taichung, Taiwan.
authors.forename: Chien-Heng
authors.initials: CH
authors.lastname: Lin
authors.affiliation: Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan; Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan.
authors.forename: Min-Sho
authors.initials: MS
authors.lastname: Ku
authors.affiliation: Department of Medical Imaging, Chung Shan Medical University Hospital, Taichung, Taiwan.
authors.forename: Teng-Fu
authors.initials: TF
authors.lastname: Tsao
authors.affiliation: Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan; Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan. Electronic address: cshy098@csh.org.tw.
authors.forename: Ji-Nan
authors.initials: JN
authors.lastname: Sheu
mesh_terms: D018076:DNA, Complementary / Q000235:genetics; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics; D007103:Immobilization / Q000009:adverse effects; D007223:Infant; D007926:Lesch-Nyhan Syndrome / Q000097:blood* / Q000150:complications* / Q000175:diagnosis; D008297:Male; D011655:Pulmonary Embolism / Q000150:complications* / Q000209:etiology; D014527:Uric Acid / Q000097:blood*
chemical_list: D018076:DNA, Complementary; D014527:Uric Acid; D007041:Hypoxanthine Phosphoribosyltransferase
keywords: HPRT; Lesch–Nyhan syndrome; hyperuricemia; pulmonary embolism