A case of partial trisomy 13 presenting with hyperinsulinaemic hypoglycaemia.
We report on a newborn baby with partial trisomy 13 who presented with multiple dysmorphic features and hyperinsulinaemic hypoglycaemia. Cytogenetic study on peripheral blood lymphocytes showed 47,XY,+mar in all cells analysed; fluorescent in situ hybridisation showed that the marker was solely derived from chromosome 13. The final karyotype was 47,XY,+del(13)(q14q32). Milk formula through a nasogastric drip and intravenous glucose infusion were given to prevent further hypoglycaemia. However, the baby developed occasional episodes of hypoglycaemia during bolus feeding. Hence, diazoxide was given, at a dosage of 10 mg/kg per day from day 24. Thereafter, no hypoglycaemic episodes were detected. Subsequent follow-up revealed satisfactory growth, global developmental delay, and left divergent squint.
Shiu
Y K
YK
Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Laichikok, Hong Kong, ROC. ykshiu@graduate.hku.hk
Lo
F M
FM
Lam
T S
TS
Chow
C B
CB
D000015:Abnormalities, Multiple / Q000235:genetics; D002882:Chromosomes, Human, Pair 13; D019465:Craniofacial Abnormalities / Q000235:genetics; D006801:Humans; D006946:Hyperinsulinism / Q000235:genetics*; D007003:Hypoglycemia / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D014314:Trisomy / Q000175:diagnosis*