G6PD Deficiency: | Case 1 | Case 2 | Case 3

Case 2 (by Yeung, Chap-Yung)

Patient: 8 week old boy

Source: Canada, 2001

Presenting features:
  Full-term infant born normally following an uneventful first pregnancy. Discharged home on Day 2 on breast feeding.
  Jaundiced on Day 5. Seen by pediatrician on Day 7. Noted to have high serum bilirubin ( >380 µmol/L ). No active treatment apart from phototherapy. Discharged on Day 9.
  Mom noticed poor feeding and frequent regurgitation on returning home. Frequent high-pitch cries and arching of back. Irritable and poor sleeping at night.

When seen ( 8/52 ):
  Opisthotonic posture, more marked when agitated.
  Jittery limb movements ++; moro reflex depressed.
  Poor rooting and sucking. No jaundice.

Dx:
  Kernicterus ( sequalae of bilirubin encephalopathy )

Relevant Investigations: G6PD deficient
  Retrospective survey at home revealed use of naphthalene as insect repellant.

Lessons:
1) Kernicterus is well-known to occur in Chinese term infants even beyond the first week of birth - very different from most teaching in English literature.
2) Acute hemolytic jaundice occurs spontaneously in G6PD deficient infants, many hidden precipitating factors in the Chinese house-holds are often ignored. They include taking of certain herbs, ( especially Chuen-Lien ), exposure to vapor of naphthalene ( moth-balls ), and overt or sub-clinical ( bacterial overgrowth ) infection ( especially in unhygienic home environment ).

Case 1 | Case 2 | Case 3