title: Lesch-Nyhan syndrome presenting with renal insufficiency in infancy and transient neonatal hypothyroidism.
abstract: A 20-day-old male infant presented with acute renal failure. Three weeks later he developed acutely swollen, hot, red joints and tophi in his hands and feet. The serum uric acid was 2.2 mmol/l (normal 0.13-0.23 mmol/l) and the urinary oxypurine/creatinine ratio was 2.26 mmol (normal < 1.5 mmol). Complete deficiency of hypoxanthine guanine phosphoribosyl transferase (HGPRT) in intact erythrocytes confirmed Lesch-Nyhan syndrome. Neurological development was delayed and self-mutilation was observed at 22 months. Acute renal failure secondary to crystal nephropathy and tophaceous gout are unusual presenting features of this rare condition. This child also had transient neonatal hypothyroidism, which is not a recognized manifestation of the syndrome.
authors.affiliation: Department of Rheumatology, Portsmouth Hospitals.
authors.forename: E A
authors.initials: EA
authors.lastname: Jenkins
authors.forename: R J
authors.initials: RJ
authors.lastname: Hallett
authors.forename: R G
authors.initials: RG
authors.lastname: Hull
mesh_terms: D058186:Acute Kidney Injury / Q000209:etiology*; D004912:Erythrocytes / Q000201:enzymology; D006073:Gout / Q000000981:diagnostic imaging / Q000209:etiology / Q000378:metabolism; D006801:Humans; D007037:Hypothyroidism / Q000209:etiology* / Q000503:physiopathology; D007041:Hypoxanthine Phosphoribosyltransferase / Q000097:blood; D007231:Infant, Newborn; D007926:Lesch-Nyhan Syndrome / Q000097:blood / Q000150:complications*; D008297:Male; D011859:Radiography; D013997:Time Factors; D014527:Uric Acid / Q000097:blood / Q000378:metabolism
chemical_list: D014527:Uric Acid; D007041:Hypoxanthine Phosphoribosyltransferase