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Persistent hyperinsulinaemic hypoglycaemia in infancy

Pratik Shah1, Huseyin Demirbilek1, Khalid Hussain1

  • 1Department of Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London; Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children, London.

Seminars in Pediatric Surgery
|June 17, 2014
PubMed

Insights

Persistent hyperinsulinaemic hypoglycaemia in infancy (PHHI) is a common cause of neonatal hypoglycemia. Early diagnosis and management, including advanced imaging and surgical options like laparoscopy, are crucial to prevent neurological damage.

Area of Science:

  • Pediatric Endocrinology
  • Neonatal Medicine
  • Surgical Gastroenterology

Background:

  • Persistent hyperinsulinaemic hypoglycaemia in infancy (PHHI) is a leading cause of severe neonatal hypoglycemia.
  • Unregulated insulin secretion can lead to significant neurological impairment if not managed promptly.
  • PHHI presents histologically as diffuse, focal, or atypical disease, impacting treatment strategies.

Purpose of the Study:

  • To highlight the heterogeneity of PHHI and its clinical implications.
  • To emphasize the importance of early diagnosis and management to prevent brain injury.
  • To discuss the role of advanced imaging and surgical techniques in managing PHHI.

Main Methods:

  • Review of histological classifications of PHHI (diffuse, focal, atypical).
  • Utilisation of 18F-DOPA-PET/CT scans for differentiating diffuse and focal PHHI.
  • Analysis of genetic defects in key insulin secretion regulatory genes.
  • Comparison of surgical interventions: lesionectomy, near-total pancreatectomy, and laparoscopic approaches.

Main Results:

  • 18F-DOPA-PET/CT effectively distinguishes between diffuse and focal PHHI.
  • Focal PHHI is sporadic and treatable with lesionectomy.
  • Diffuse PHHI, often inherited, may require near-total pancreatectomy if medical therapy fails.
  • Laparoscopic surgery offers minimally invasive options for pancreatic resection in PHHI.

Conclusions:

  • Early recognition and tailored management are vital for preventing long-term complications of PHHI.
  • Advanced imaging and genetic analysis aid in precise diagnosis and treatment planning.
  • Surgical interventions, particularly laparoscopic techniques, are advancing the treatment of PHHI, balancing efficacy with reduced morbidity.

Keywords:
DiffuseFocalHyperinsulinaemic hypoglycaemia

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