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Persistent hyperinsulinemic hypoglycemia of infancy
1Department of Pediatrics, Sir Hurkisondas Nurrotumdas Hospital and Research Center, Bombay.
Indian Pediatrics
|October 15, 1998
Summary
Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is a complex disorder with high familial incidence and significant mortality. Early diagnosis and genetic counseling are crucial due to its challenging nature and potential for severe outcomes.
Area of Science:
- Pediatric Endocrinology
- Neonatal Medicine
- Genetics
Background:
- Persistent hyperinsulinemic hypoglycemia of infancy (PHHI), now termed 'Islet cell dysmaturation syndrome', presents diagnostic and therapeutic challenges.
- Nesidioblastosis is a key cause of PHHI, characterized by inappropriately high insulin levels relative to blood glucose.
Purpose of the Study:
- To investigate the characteristics and clinical progression of PHHI caused by nesidioblastosis.
- To evaluate diagnostic and therapeutic strategies for infants with PHHI.
Main Methods:
- Clinical and laboratory evaluation of 13 infants from 9 families with PHHI.
- Utilized standard biochemical and radioimmunoassay techniques.
- Assessed outcomes including treatment responses, mortality, and long-term morbidity.
Main Results:
- Inappropriately high insulin levels (I/G ratio > 0.4) were observed in infants with PHHI.
- Treatment involved glucose feeds, diazoxide, and octreotide; two infants required pancreatic resection.
- Mortality rate was 46%, with survivors experiencing significant morbidity, including brain damage and developmental delays.
Conclusions:
- PHHI is a complex disorder with a high familial incidence (77%) and intrafamilial variability.
- The study highlights unusual features such as severe recurrent infections in 30% of cases.
- High mortality and morbidity underscore the need for increased awareness, prompt diagnosis, and genetic counseling.