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LESCH – NYHAN SYNDROME: A CASE REPORT

Subahir SA, Yahaya N

Introduction: Lesch-Nyhan syndrome is a rare X linked recessive disorder of purine
metabolism involving defective activity of hypoxanthine-guanine phosphoribosyl-
transferase (HPRT) enzyme and gene mutation of X chromosome (Xq26-27). It is
characterised by intellectual disability, spastic cerebral palsy, choreoathetosis and
compulsive self-mutilation behaviour (SMB) which have implications towards dental care.
Case presentation: A 23-year-old Chinese young man with an underlying Lesch-Nyhan
syndrome presented with dystonic Cerebral Palsy, Global Developmental Delay, Epilepsy,
Nephrocalcinosis and an aggressive behaviour. He was managed under the care of
Paediatric Dentistry team when he was a child and at age of 16, he was referred to Special
Needs Dentistry Clinic, Hospital Kuala Lumpur for continuation of dental care. This patient
presented with a habitual lip biting and lip rubing against rough surfaces as part of his
compulsive SMB. The lip was distorted in shape and presented with ulceration. Dental
management involved were routine prophylaxis, preventive therapy and symptomatic
relief for ulcer under behaviour guidance. Conclusion: Managing Special Needs patients
require a teamwork effort in order to provide the best of care.

Poster presentation at the International Association of Disability and Oral Health 2020 Online Research Competition
Published in Medicina Oral, Patologia Oral, Cirugia Bucal 2021;26(Supp 1): 1-79.
Dr Siti Asmak Subahir
Dr Norjehan Yahaya
Special Care Dentistry Unit
Department of Oral and Maxillofacial Surgery
Kuala Lumpur Hospital
Malaysia

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