Donati, M. A.

Gasperini, S

Gasperini, U

Guerrini, Renzo

La Marca, Giancarlo

Stagi, Stefano

English

Florence Research

LETTER TO THE EDITORSOrange-colored diapers as first sign of Lesch-Nyhan diseasein an asymptomatic infantSerena Gasperini & Stefano Stagi & Ugo Gasperini &Renzo Guerrini & Giancarlo la Marca &Maria Alice DonatiReceived: 21 April 2010 /Accepted: 22 April 2010# IPNA 2010Sirs,We read with great interest the letter of Demirdas andSchröder [1] about the differential diagnosis in changedcolor of urine in infants.We have followed a 3-month-old male who washospitalized for the presence of orange-colored diapers.He was born from unrelated parents after an uneventfulpregnancy. High levels of uric acid were found in theplasma (11.7 mg/dl; normal values 1.7–5.8). Kidneyultrasound examination showed mild and diffuse increaseof signal in cortical area with nephrolithiasis. Fundus oculi,electroencephalogram (EEG), and brain ultrasound werenormal. Successively, the infant presented dystonic move-ments, mild axial hypotonia, and hypertonia of the legswith increased tendon reflexes and scissoring. The study ofpurine and pyrimidine metabolism by electrospray ioniza-tion tandem mass spectrometry (MS-MS) showed highlevels of hypoxanthine (20.3 mmol/mol of creatinine;normal values 0.43–11.31). Enzymatic assay in red cellsshowed an absence of hypoxanthine-guanine phosphoribo-syltransferase activity (HGPRT). Molecular analysis con-firmed the diagnosis of Lesch-Nyhan disease (LND; OMIM300322) in the patient and his mother as a carrier: aduplication of 8 nucleotides 89–96 (89_96dupAGGATTTG)in exon 2 of HPRT1 gene was found in chromosome X.Brain magnetic resonance imaging showed white matteratrophy of bilateral symmetric temporal-insular regionswith respective enlargement of subarachnoid spaces withmild decreased concentration of NAA and Cho at spectros-copy. At 20 months, the patient was unable to control hishead or speak; he also showed swallowing and severedystonic-dyskinetic movement disorder of the upper limbswith generalized hypertonia crisis towards opistotonus.LND is a rare X-linked recessive disorder [2] character-ized by the progressive development of mental retardation,spasticity, choreo-athetosis, self-mutilation, and hyperurice-mia [3, 4], due to complete deficiency of the activity ofHGPRT (OMIM 308000) [2]. However, partially HGPRT-deficient patients (OMIM 300323) present these symptomswith different degrees of intensity [5].In these patients, orange crystals may be identified indiapers during the first weeks of life, but only rarely arethey an early sign of the disease [3, 4, 6]. For example,Jinnah et al. [7] reported only one patient in 40 with LND.Orange crystals are often present in diapers during thefirst weeks of life, when deposits of pink or red uric acidcrystals are observable [8]. Urate crystals are orange-redprecipitates formed in the bladder, which look like ‘brickdust’ in a diaper [1]. Notwithstanding, orange-colored urinecould be due to a variety of causes. The commonest is dueto some food colors such as phenolphthalein or beet, drugsS. Gasperini : R. Guerrini :G. la Marca :M. A. DonatiDepartment of Pharmacology, University of Florence,Florence, ItalyS. StagiPediatric Unit, Villamarina Hospital,Piombino, Livorno, ItalyU. GasperiniPaediatric Unit-“Ceppo” Hospital Pistoia,Pistoia, Tuscany, ItalyS. Gasperini (*)Metabolic Diseases Unit, Meyer Children Hospital of Florence,Viale Pieraccini 24,50139 Florence, Italye-mail: s.gasperini@meyer.itPediatr NephrolDOI 10.1007/s00467-010-1557-3such as rifampicin, multivitamins, concentrated urine due topoor water intake, and finally, some urinary bacterialinfections as well as hematuria can result in red-coloredurine (Citrobacter sedlakii) [1].In conclusion, we are pleased that our colleagues havediscussed this important problem. Our case report seems tosuggest that orange-colored diapers after the neonatalperiod, even if not associated with evident neurologicaland renal impairment, may be due to this metabolicdisorder.References1. Demirdas S, Schröder CH (2010) An infant with orange-coloredurine. Pediatr Nephrol 25:3812. Jinnah HA (2009) Lesch-Nyhan disease: from mechanism to modeland back again. Dis Model Mech 2:116–1213. Torres RJ, Puig JG (2007) Hypoxanthine-guanine phosphoribosyl-transferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet JRare Dis 2:484. Jinnah HA, De Gregorio L, Harris JC, Nyhan WL, O’Neill JP(2000) The spectrum of inherited mutations causing HPRTdeficiency: 75 new cases and a review of 196 previously reportedcases. Mutat Res 463:309–3265. García MG, Torres RJ, Prior C, Puig JG (2008) Normal HPRTcoding region in complete and partial HPRT deficiency. Mol GenetMetab 94:167–1726. Yang MT, Mak SC, Chi CS, Lin HY, Lii YP, Wu KH, Shian WJ(1994) Lesch-Nyhan Syndrome: report on two brothers. ZhonghuaMin Guo Xiao Er Ke Yi Xue Hui Za Zhi 35:552–5587. Jinnah HA, Visser JE, Harris JC, Verdu A, Larovere L, Ceballos-Picot I, Gonzalez-Alegre P, Neychev V, Torres RJ, Dulac O,Desguerre I, Schretlen DJ, Robey KL, Barabas G, Bloem BR,Nyhan W, De Kremer R, Eddey GE, Puig JG, Reich SG, Lesch-Nyhan Disease International Study Group (2006) Delineation of themotor disorder of Lesch-Nyhan disease. Brain 129:1201–12178. Küpeli S, Yurdakök M, Kilinc G, Bilgetekin E (2005) Urinary uricacid levels and discoloration of diapers in healthy neonates. PediatrNephrol 20:1361–1362Pediatr Nephrol

Orange-colored diapers as first sign of Lesch-Nyhan disease in an asymptomatic infant.

https://flore.unifi.it/bitstream/2158/397261/1/Lesch-NyhanPN.pdf

Orange-colored diapers as first sign of Lesch-Nyhan disease in an asymptomatic infant.

Abstract

Similar works

Full text

Available Versions

Florence Research