Persistent hyperinsulinaemic hypoglycaemia of infancy in 43 children: long-term clinical and surgical follow-up.

OBJECTIVE: To describe the clinical, surgical, biochemical, radiological and electrophysiological features of 43 Saudi children with persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI) who have been followed since 1983.
METHODS: Data from 43 patients were retrospectively analysed. PHHI was diagnosed on the basis of high intravenous glucose requirement, high insulin to glucose ratio, negative urinary ketones and normal tandem mass spectrometry. The patients were assessed radiologically by brain magnetic resonance imaging and/or computed tomography and electrophysiologically by brain stem auditory evoked potential, visual evoked response and electroencephalogram. Patients who failed medical therapy received near total pancreatectomy.
RESULTS: The patients were severely hypoglycaemic and intolerant to fast. Hypoglycaemic convulsion was the most commonly presenting complaint. Eighteen patients were developmentally delayed and 14 of them had brain atrophy. All patients, except nine, did not respond to medical treatment and underwent surgery. Four pancreatectomized patients developed diabetes and two had malabsorption. One baby had 180 cm resection of gangrenous bowel most likely secondary to octreotide. No common bile duct injury was encountered. One patient was treated medically during childhood and developed diabetes and gained weight during adolescence.
CONCLUSION: PHHI is a relatively common and serious disease among Saudi children. Early intervention is necessary to avoid neurological damage in patients who are severely hypoglycaemic and unresponsive to medical therapy. Surgically and probably medically treated patients are at a high risk of developing diabetes, which could be the natural outcome of this disease. Care and spending time during surgery to visualize the common bile duct help in avoiding its injury.