Rare Disease & the Difficult and Complicated Disease

Lesch-Nyhan syndrome caused by HPRT1 gene variation: a case report

  • Fengchao LI ,
  • Yinhong ZHANG ,
  • Tao LYU ,
  • Baosheng ZHU ,
  • Siqi HAN ,
  • Shiyan CAI ,
  • Li LI
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  • 1. Medical School, Kunming University of Science and Technology, Kunming 650500, Yunnan, China
    2. Department of Pediatrics, Yunnan First People’s Hospital, Kunming 650032, Yunnan, China
    3. Medical Genetics Department, Yunnan First People’s Hospital, Kunming 650032, Yunnan, China
    4. The Affiliated Hospital of Kunming University of Science and Technology, Kunming 650500, Yunnan, China

Received date: 2021-06-22

  Online published: 2022-06-07

Abstract

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.

Cite this article

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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