Which physical findings suggest Crigler-Najjar syndrome?

Updated: May 21, 2019
  • Author: Hisham Nazer, MBBCh, FRCP, DTM&H; Chief Editor: BS Anand, MD  more...
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Answer

Type 1

Apart from jaundice, physical findings are usually normal in Crigler Najjar syndrome type 1, with no signs of hemolysis or liver disease.

Type 2

Patients with Crigler-Najjar syndrome type 2 appear healthy at birth, with no signs of liver disease. Patients may present with evidence of kernicterus, the clinical manifestations of which are hypotonia, deafness, oculomotor palsy, lethargy, and, ultimately, death.


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