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[HEALTH] · China · 2 sources

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Henan Family's Two Sons Diagnosed with Rare Lesch‑Nyhan Syndrome

In Puyang, Henan province, a mother identified as Ms. Bai disclosed that her two sons – a 14‑year‑old and a 1‑year‑old – have been diagnosed with Lesch‑Nyhan syndrome, a rare X‑linked recessive disorder that occurs in roughly one in 380,000 births. The condition causes severe metabolic abnormalities, developmental delays, and characteristic self‑injurious behaviors such as uncontrolled nail‑biting, lip‑biting and head‑banging. The older child was initially misdiagnosed as having cerebral palsy, while prenatal examinations for the younger child were normal; the diagnosis was confirmed after the infant could not lift his head at three months.

Ms. Bai said she will not abandon her children despite the lack of a curative treatment, urging greater public attention and research for the disease. The revelation sparked mixed reactions online, with many expressing sympathy for the boys while others questioned the family's decision to have additional children after the first child's illness was identified.

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China · Henan Province · Lesch‑Nyhan syndrome · Ms. Bai · Puyang