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

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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.

Original languageEnglish
Article numbere231978
JournalBMJ case Reports
Volume12
Issue number11
DOIs
Publication statusPublished - 1 Dec 2019

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