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Persistent hyperinsulinemic hypoglycemia of infancy

M P Desai1, J V Khatri

  • 1Department of Pediatrics, Sir Hurkisondas Nurrotumdas Hospital and Research Center, Bombay.

Indian Pediatrics
|October 15, 1998
PubMed
Summary
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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.

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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.