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Transient Cytopenias as a Rare Presentation of Classic Galactosemia

Although galactosemia can be detected through neonatal screening, some cases are characterized by rapid and severe presentation before screening results become available. We report the case of a neonate with classic galactosemia presenting with acute liver failure and cytopenias (thrombocytopenia, a...

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Autores principales: Gianniki, Maria, Nikaina, Irini, Avgerinou, Georgia, Kanaka-Gantenbein, Christina, Siahanidou, Tania
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8998154/
https://www.ncbi.nlm.nih.gov/pubmed/35464534
http://dx.doi.org/10.7759/cureus.23101
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author Gianniki, Maria
Nikaina, Irini
Avgerinou, Georgia
Kanaka-Gantenbein, Christina
Siahanidou, Tania
author_facet Gianniki, Maria
Nikaina, Irini
Avgerinou, Georgia
Kanaka-Gantenbein, Christina
Siahanidou, Tania
author_sort Gianniki, Maria
collection PubMed
description Although galactosemia can be detected through neonatal screening, some cases are characterized by rapid and severe presentation before screening results become available. We report the case of a neonate with classic galactosemia presenting with acute liver failure and cytopenias (thrombocytopenia, anemia, and neutropenia). Neonatal screening results showed increased galactose and phenylalanine levels. The diagnosis of galactosemia was confirmed by the measurement of galactose-1-phosphate uridyltransferase (GALT) activity in erythrocytes. Two mutations of the GALT gene (c.563 A>G [p. Q188R] and c.957C>A [p.H319Q]) were revealed. High clinical suspicion of galactosemia is crucial to identify, as early as possible, cases with classical or even unusual presentation, and to initiate early treatment that could change the disease course and improve outcomes. Cytopenias should be included in the broad phenotypic spectrum of galactosemia.
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spelling pubmed-89981542022-04-23 Transient Cytopenias as a Rare Presentation of Classic Galactosemia Gianniki, Maria Nikaina, Irini Avgerinou, Georgia Kanaka-Gantenbein, Christina Siahanidou, Tania Cureus Endocrinology/Diabetes/Metabolism Although galactosemia can be detected through neonatal screening, some cases are characterized by rapid and severe presentation before screening results become available. We report the case of a neonate with classic galactosemia presenting with acute liver failure and cytopenias (thrombocytopenia, anemia, and neutropenia). Neonatal screening results showed increased galactose and phenylalanine levels. The diagnosis of galactosemia was confirmed by the measurement of galactose-1-phosphate uridyltransferase (GALT) activity in erythrocytes. Two mutations of the GALT gene (c.563 A>G [p. Q188R] and c.957C>A [p.H319Q]) were revealed. High clinical suspicion of galactosemia is crucial to identify, as early as possible, cases with classical or even unusual presentation, and to initiate early treatment that could change the disease course and improve outcomes. Cytopenias should be included in the broad phenotypic spectrum of galactosemia. Cureus 2022-03-12 /pmc/articles/PMC8998154/ /pubmed/35464534 http://dx.doi.org/10.7759/cureus.23101 Text en Copyright © 2022, Gianniki et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Endocrinology/Diabetes/Metabolism
Gianniki, Maria
Nikaina, Irini
Avgerinou, Georgia
Kanaka-Gantenbein, Christina
Siahanidou, Tania
Transient Cytopenias as a Rare Presentation of Classic Galactosemia
title Transient Cytopenias as a Rare Presentation of Classic Galactosemia
title_full Transient Cytopenias as a Rare Presentation of Classic Galactosemia
title_fullStr Transient Cytopenias as a Rare Presentation of Classic Galactosemia
title_full_unstemmed Transient Cytopenias as a Rare Presentation of Classic Galactosemia
title_short Transient Cytopenias as a Rare Presentation of Classic Galactosemia
title_sort transient cytopenias as a rare presentation of classic galactosemia
topic Endocrinology/Diabetes/Metabolism
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8998154/
https://www.ncbi.nlm.nih.gov/pubmed/35464534
http://dx.doi.org/10.7759/cureus.23101
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