Journal of Clinical Pediatrics >
Lesch-Nyhan syndrome caused by HPRT1 gene variation: a case report
Received date: 2021-06-22
Online published: 2022-06-07
Lesch-Nyhan syndrome is a rare X-linked recessive genetic disease. Before the occurrence of self-injury, it could be misdiagnosed as cerebral palsy. The proband, male, 8 years and 7 months old, was admitted to the clinic due to over 8 years of developmental retardation and abnormal muscle tone. Multiple blood biochemical tests showed that uric acid was increased. Genetic analysis results confirmed that the patient had c.200 _ 201delTG variation of HPRT1 gene, which was rated as a suspected pathogenic variation by ACMG. Sanger sequencing confirmed that the variation was inherited from the mother and was an unreported new variation, thus the child was diagnosed with HPRT1 gene-associated Lesch-Nyhan syndrome. After oral allopurinol tablets and sodium bicarbonate tablets for 6 months, the level of uric acid decreased significantly, and there was no self-injury behavior. In patients with unexplained cerebral palsy, genetic examination should be performed as early as possible to help early diagnosis and genetic counseling.
Key words： HPRT1 gene; Lesch-Nyhan syndrome; clinical manifestations; gene variant; child
Fengchao LI , Yinhong ZHANG , Tao LYU , Baosheng ZHU , Siqi HAN , Shiyan CAI , Li LI . Lesch-Nyhan syndrome caused by HPRT1 gene variation: a case report[J]. Journal of Clinical Pediatrics, 2022 , 40(6) : 465 -468 . DOI: 10.12372/jcp.2022.21e0944
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