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A case of lipoid congenital adrenal hyperplasia presenting with cholestasis

Ahmad Khodadad1, Vajiheh Modaresi, Mohammad-Ali Kiani

  • 1Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran ; Center of Excellence for pediatrics, Children's Medical Center, Tehran, Iran.

Iranian Journal of Pediatrics
|October 12, 2012
PubMed

Insights

Lipoid congenital adrenal hyperplasia, a rare adrenal defect, can cause infantile cholestasis. Prompt diagnosis and treatment with hydrocortisone and fludrocortisone resolved symptoms in a neonate.

Area of Science:

  • Pediatric Endocrinology
  • Neonatal Medicine
  • Genetics

Background:

  • Lipoid congenital adrenal hyperplasia (LCAH) is a rare and severe form of adrenal steroidogenic defect.
  • LCAH can manifest as neonatal cholestasis, presenting diagnostic challenges.

Observation:

  • A 45-day-old infant presented with cholestasis, severe vomiting, and electrolyte disturbances.
  • Diagnostic evaluation confirmed congenital adrenal hyperplasia.

Findings:

  • Treatment with hydrocortisone and fludrocortisone effectively resolved jaundice and vomiting.
  • The infant's hyponatremia and hyperkalemia normalized with the prescribed treatment.

Implications:

  • Congenital adrenal hyperplasia should be considered in neonates with cholestasis and electrolyte abnormalities.
  • Early diagnosis and management of LCAH are crucial for favorable outcomes.
Abstract

Keywords:
Adrenal HyperplasiaCholestasisLipoid Congenital Adrenal HyperplasiaNeonate

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