Crigler-Najjar Syndrome (Type 1) - A Case Report and Review of Literature.
Elham Nazari Fard, Ali Al Yasari, Asmaa Sharafeldin et al.
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Case in brief
A 7-year-old girl with Crigler–Najjar syndrome type I and kernicterus presented with fever and breakthrough seizures during an upper respiratory infection. She had severe neurodevelopmental impairment, including spastic quadriplegic cerebral palsy, epilepsy, global developmental delay, and failure to thrive. The report attributes her neurological sequelae to untreated neonatal hyperbilirubinemia and emphasizes early diagnosis and aggressive management.
What made this case unusual
The report describes a child with established kernicterus and profound, irreversible neurological impairment presenting with breakthrough seizures during an upper respiratory infection.
Diagnostic / clinical pearl
Crigler–Najjar syndrome type I causes severe unconjugated hyperbilirubinemia; untreated neonatal hyperbilirubinemia can result in irreversible neurological sequelae.