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

Elke van Westering-Kroon; Malou Heijligers; Matthias Christian Hütten

doi:10.1136/bcr-2019-231978

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

Elke van Westering-Kroon, Malou Heijligers, Matthias Christian Hütten^*

^*Corresponding author for this work

Research output: Contribution to journal › Editorial › Academic › peer-review

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 language	English
Article number	e231978
Number of pages	3
Journal	BMJ case Reports
Volume	12
Issue number	11
DOIs	https://doi.org/10.1136/bcr-2019-231978
Publication status	Published - 1 Dec 2019

Keywords

metabolic disorders
liver disease
neonatal intensive care

Access to Document

10.1136/bcr-2019-231978

Cite this

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title = "Neonatal cholestasis, hyperferritinemia, hypoglycemia and deafness: a diagnostic challenge",

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.",

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AU - van Westering-Kroon, Elke

AU - Heijligers, Malou

AU - Hütten, Matthias Christian

N1 - © BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.

PY - 2019/12/1

Y1 - 2019/12/1

N2 - 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.

AB - 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.

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KW - liver disease

KW - neonatal intensive care

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