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Pediatrics. 2013 Dec;132(6):e1694-8. doi: 10.1542/peds.2013-1030. Epub 2013 Nov 11.

Neonatal death suspected to be from sepsis was found to be kernicterus with G6PD deficiency.

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  • 1Intermountain Healthcare, 4401 Harrison Blvd, Ogden, UT 84403.


We cared for a term male infant born to Burmese immigrants. At about 24 hours a total serum bilirubin (TSB) was 9.3 mg/dL, and phototherapy was begun. It was stopped 48 hours later, with a TSB of 10.9 mg/dL, and he was discharged from the hospital with an appointment for a repeat TSB check 48 hours later. A few hours before the appointment he became listless and apneic, and his parents took him to the emergency department of the regional children's hospital, where sepsis was suspected. The TSB was 41 mg/dL. He died 4 hours later, despite intensive care efforts, with opisthotonus and refractory hypotension. Blood drawn before the exchange transfusion had low glucose-6-phosphate dehydrogenase (G6PD) enzymatic activity, and sequencing of the G6PD gene revealed the G6PD Mahidol mutation (c.487G>A). Cultures and postmortem examination did not demonstrate an infectious process, but kernicterus was present. Acute kernicterus can mimic septic shock.


G6PD; Mahidol mutation; hemolysis; jaundice; kernicterus; neonate

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