Persistent hyperinsulinaemic hypoglycaemia of infancy: 15 years' experience at the Royal Children's Hospital (RCH), Melbourne.

OBJECTIVE

To review the clinical outcome and report our experience of patients with persistent hyperinsulinemic hypoglycaemia of infancy (PHHI).

METHODS

Retrospective case series of 14 patients diagnosed with PHHI at the Royal Children's Hospital in Melbourne in the period between 1988 and 2004. Diagnoses of insulinoma, Beckwith syndrome and transient hyperinsulinism were excluded.

RESULTS

Six patients (43%) presented on day 1, with a median presenting age of 2.75 months; ten (71.4%) presented with seizures. All were initially treated with diazoxide, of whom six (43%) recovered and are off medication, while four patients (28.5%) required surgery (twice in one patient). One developed permanent diabetes mellitus. Developmental delay occurred in nine (64%), and was severe in two (14.5%) patients, possibly associated with delayed treatment.

CONCLUSIONS

PHHI is a rare but severe condition. The aim of management of PHHI should be on the one hand to prevent mental retardation and developmental delay due to severe and persistent hypoglycaemia, and on the other hand to avoid the induction of diabetes mellitus following surgery. Satisfactory outcome depends on early effective medical treatment and judicious use of surgery by an experienced operator.