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Case report
Neonatal cholestasis, hyperferritinemia, hypoglycemia and deafness: a diagnostic challenge
  1. Elke van Westering-Kroon1,
  2. Malou Heijligers2 and
  3. Matthias Christian Hütten1
  1. 1Pediatrics, Maastricht University Medical Centre+, Maastricht, Limburg, The Netherlands
  2. 2Clinical Genetics, Maastricht University Medical Centre+, Maastricht, Limburg, The Netherlands
  1. Correspondence to Dr Matthias Christian Hütten; matthias.hutten{at}mumc.nl

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.

  • metabolic disorders
  • liver disease
  • neonatal intensive care
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Footnotes

  • Contributors EvW-K gathered clinical data, wrote the first version of the manuscript, researched the literature and approved the final version. MH gathered genetical data, revised the manuscript, researched the literature and approved the final version. MCH gathered clinical data, revised the manuscript, researched the literature and approved the final version.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Parental/guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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