Clinical profile and outcome of persistent hyperinsulinemic hypoglycemia of infancy

ORIGINAL ARTICLE

Clinical Profile and Outcome of Persistent Hyperinsulinemic Hypoglycemia of Infancy

Varadarajan Poovazhagi, Ananthanarayanan K, Mirna K, Jahnavi Suresh, Radha Venkatesan, V Mohan.

Pediatric Intensive care, Institute of Child Health and Hospital for Children, Chennai.

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Abstract
Aim: To study the clinical profile and outcome of persistent hyperinsulinemic hypoglycemia of infancy (PHHI).
Setting: Retrospective study done at a tertiary pediatric referral hospital at Chennai from January 2007 to March 2013.
Methods: Fifteen infants diagnosed to have PHHI were included in the study. Their genetic, biochemical and clinical outcome were analyzed.
Results: Seizures, lethargy and refusal of feeds were the initial presentation in these infants. Thirteen (86.6%) were term babies. Three (20%) were large for gestational age. Serum insulin levels were in the range from 3 to 54µIU/ml with a mean of 23+/-15.7µIU/ml. Among the 12 infants who underwent genetic evaluation, 4 (33%) had mutations in ABCC8 gene. Five (33%) infants underwent pancreatectomy for refractory hypoglycemia. All children with pancreatectomy had diffuse disease and on follow up three of them are euglycemic without any drugs, one infant is still on octreotide and one infant succumbed with sepsis 7 months later. Among the 8 children on medical therapy, 7 (87.5%) children are still on diazoxide and being followed up. Two (13.3%) children were lost to follow up. Nine (69%) children have attained age appropriate developmental milestones on follow up. Motor developmental delay, delayed speech, seizures and microcephaly were the neurological findings on follow up in 4(31%) children.
Conclusions: Majority of infants with PHHI were term appropriate for gestational age. ABCC8 mutations are encountered in 33% infants. Diazoxide responsive PHHI was common in the study group.

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