Classic Lesch–Nyhan syndrome in a preschool child: a case report
DOI:
https://doi.org/10.61997/bjm.v15i2.505Keywords:
Lesch-Nyhan syndrome, hypoxanthine-guanine phosphoribosyltransferase enzyme, self-injury, hyperuricemiaAbstract
Introduction: Lesch–Nyhan syndrome is a severe neurogenetic disorder of purine metabolism caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT), encoded by the HPRT1 gene and inherited in an X-linked recessive pattern. It is characterized by hyperuricemia, neurological dysfunction, and self-injurious behavior. Case presentation: A 3-year-old male preschool patient presented with neurodevelopmental delay since 2 months of age. Around one year of age, he developed self-injurious behavior, including biting of the hands and fingers resulting in lacerations. He also exhibited abnormal movements described as jerking or spasmodic episodes, progressive spasticity, and hyperuricemia. These clinical and laboratory findings supported the diagnosis of Lesch–Nyhan syndrome. Conclusions: The case is clinically consistent with the classic form of Lesch–Nyhan syndrome. Early diagnosis and timely therapeutic interventions can reduce complications and improve the patient’s quality of life. Furthermore, early recognition facilitates appropriate clinical management and provides essential guidance for affected families.
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