Neonatal cholestasis, hyperferritinemia, hypoglycemia and deafness: a diagnostic challenge

BMJ Case Rep. 2019 Dec 1;12(11):e231978. doi: 10.1136/bcr-2019-231978.

Abstract

Neonatal conjugated hyperbilirubinemia is a diagnostic challenge. A full term, small for gestational age boy presented with cholestasis, hypoglycemia, hyperferritinemia and severe bilateral deafness. Diagnostic work-up revealed two hereditary diseases: alpha-1-antitrypsin deficiency (PI*ZZ genotype) and autosomal recessive deafness type 3 (compound heterozygous MYO15A gene mutation). In addition, we found late hypoglycemia on full enteral feeding which complicated this case. Hyperferritinemia is an uncommon finding in newborn cholestasis without liver failure.

Keywords: liver disease; metabolic disorders; neonatal intensive care.

Publication types

  • Case Reports

MeSH terms

  • Cholestasis / diagnosis*
  • Cholestasis / genetics
  • Diagnosis, Differential
  • Ferritins / blood
  • Hearing Loss, Sensorineural / diagnosis*
  • Hearing Loss, Sensorineural / genetics
  • Humans
  • Hypoglycemia / diagnosis*
  • Hypoglycemia / genetics
  • Infant, Newborn
  • Infant, Small for Gestational Age
  • Iron Metabolism Disorders / diagnosis*
  • Iron Metabolism Disorders / genetics
  • Myosins / genetics
  • alpha 1-Antitrypsin Deficiency / diagnosis*
  • alpha 1-Antitrypsin Deficiency / genetics

Substances

  • MYO15A protein, human
  • Ferritins
  • Myosins

Supplementary concepts

  • Deafness, Autosomal Recessive 3