caa a22 4500 467933626 CHVBK 20180406152950.0 cr unu---uuuuu 170328e20060801xx s 000 0 eng 10.1007/s10545-006-0281-4 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0281-4 Lesch-Nyhan disease in a 20-year- old man incorrectly described as developing ‘cerebral palsy' after general anaesthesia in infancy [Elektronische Daten] [M. Chiong, A. Marinaki, J. Duley, B. Bennetts, R. Ouvrier, J. Christodoulou] Summary: Lesch-Nyhan disease (LND) is a rare X-linked recessive genetic disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme. The classic clinical condition is characterized by cognitive impairment, hypotonia at rest, choreoathetosis, hyperuricaemia and the hallmark symptom of severe and involuntary self-mutilation. We describe a man with LND who was initially thought to have suffered from a dyskinetic cerebral palsy after an uncomplicated inguinal herniorrhaphy under general anaesthesia at 5 1/2 months of age. In the absence of overt self-injurious behaviour, the diagnosis was not considered for nearly two decades. The diagnosis of LND was established at 20 years of age through clinical review, biochemical examinations and molecular analysis. HPRT haemolysate activity was 7.6% of the normal control, suggesting that he had a milder variant of the disease. Mutation analysis of the HPRT gene revealed a novel missense mutation, c.449T > G in exon 6 (p.V150G). Cascade testing of family members revealed that the mother was heterozygous for the mutation but two siblings (a brother and a sister) did not carry the sequence mutation. Whether the onset of neurological abnormalities in this particular case can be attributed to the general anaesthesia is discussed. SSIEM and Springer, 2006 Chiong M. Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, Australia aut Marinaki A. Purine Research Laboratory, Department of Chemical Pathology, Guy's and St Thomas NHS Foundation Trust, Guy's Hospital, London, UK aut Duley J. Department of Chemical Pathology, Mater Hospital, and School of Microbial and Molecular Sciences, University of Queensland, Brisbane, Australia aut Bennetts B. Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, Australia aut Ouvrier R. Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia aut Christodoulou J. Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, Australia aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 594-594 0141-8955 29:4<594 2006 29 10545 https://doi.org/10.1007/s10545-006-0281-4 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0281-4 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Chiong M. Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, Australia aut NATIONALLICENCE 700 1- Marinaki A. Purine Research Laboratory, Department of Chemical Pathology, Guy's and St Thomas NHS Foundation Trust, Guy's Hospital, London, UK aut NATIONALLICENCE 700 1- Duley J. Department of Chemical Pathology, Mater Hospital, and School of Microbial and Molecular Sciences, University of Queensland, Brisbane, Australia aut NATIONALLICENCE 700 1- Bennetts B. Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, Australia aut NATIONALLICENCE 700 1- Ouvrier R. Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia aut NATIONALLICENCE 700 1- Christodoulou J. Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, Australia aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 594-594 0141-8955 29:4<594 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer