Background: Persistent Hyperinsulinemic Hypoglycemic of Infancy (PHHI) is a clinically and genetically heterogeneous disorder with familial and sporadic form due to dysregulation of insulin secretion, PHHI is a severe disease that leads to brain damage. In diffuse type near total pancreatectomy has become the mainstay of surgical therapy for patients with PHHI who did not respond to medical therapy.
Objective and hypotheses: To early detected cases of PHHI, try to differentiate between focal and diffuse types to manage them accordingly. As well as the importance of genetic analysis to identify genetic changes.
Method: We have reviewed 14 infants (nine male and five female) who presented with severe recurrent nonketotic hypoglycemia in the period between (19962013), the mean age of presentation 3 weeks (2 days3 months) except one patient was diagnosed at 6 years of his age, they came from different parts of Libya, they were managed at our center. The diagnosis of primary form of congenital hyerinsulinemic hypoglycemia was confirmed by laboratory investigations. Analysis of data regarding the time and mode of presentation, birth history, family history, consanguinity, genetic analysis was available for one patient, management and outcome of the patients were studied.
Results: All patients showed persistent hypoglycemia in spite of normal to high insulin levels which inappropriately high for the blood glucose levels (Insulin: glucose ratio >0.3). Other causes of hypoglycemia were excluded. Eight patients with birth weight range from (2.9 kg5.7 kg), they were found to have diffuse hyperplasia of the Beta cells of their pancreases. Two male infants presented with severe form of hypoglycemia earlier age 17 days of life with blood sugar 24 mg% and had greater birth weight (4.5 kg and 5.7 kg) their mothers were not suffering from gestational diabetes, they did not respond to medical therapy they found to have had multifocal adenomatosis in their pancreases. Four patients presented at <7 days with blood sugar <20 mg% had focal lesions of their pancreases. 13 patients under went near total pancreatectomy. Unfavourable neurological outcome in 2 pts post pancreatectomy. Unfavourable neurological outcome in 2 pts due late intervention, because their family rejected operation. Diabetes mellitus developed in 2pts post pancreatectomy with mean age (5 years). Two patients died with fulminate infection.
Conclusion: Early recognition, diagnosis and treatment of the condition are necessary to prevent or minimize neurologic damage. Preoperative investigations to identify a focal lesion of the pancreas can lead to a limited pancreatectomy and minimize the post operative complications such as development of diabetes, genetic analysis should be available for all patients.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology