Gaucher Disease Type 2 Manifested as Hemophagocytic Lymphohistiocytosis in a Neonate in the COVID-19 Era
Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved..
BACKGROUND: A term neonate presented with persistent severe thrombocytopenia, elevated liver enzymes, conjugated hyperbilirubinemia, hepatosplenomegaly, and mild hypotonia.
OBSERVATIONS: A thorough workup for infections, congenital thrombocytopenias, and neonatal malignancies was negative. Because of increased anti-SARS-CoV-2 IgG antibodies after maternal COVID-19, multisystem inflammatory syndrome of neonates was considered and intravenous immunoglobulin was administered. The clinical condition of the neonate deteriorated and due to laboratory evidence of hyperinflammation, hemophagocytic lymphohistiocytosis was suspected, and treatment with etoposide and dexamethasone was initiated with temporary stabilization. Gaucher disease type 2 was eventually diagnosed.
CONCLUSION: Gaucher disease can rarely present in neonates as hemophagocytic lymphohistiocytosis.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:45 |
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| Enthalten in: |
Journal of pediatric hematology/oncology - 45(2023), 4 vom: 01. Mai, Seite e506-e509 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Kosmeri, Chrysoula [VerfasserIn] |
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| Anmerkungen: |
Date Completed 24.04.2023 Date Revised 07.06.2023 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1097/MPH.0000000000002551 |
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| funding: |
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NLM346782198 |
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| 520 | |a Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved. | ||
| 520 | |a BACKGROUND: A term neonate presented with persistent severe thrombocytopenia, elevated liver enzymes, conjugated hyperbilirubinemia, hepatosplenomegaly, and mild hypotonia | ||
| 520 | |a OBSERVATIONS: A thorough workup for infections, congenital thrombocytopenias, and neonatal malignancies was negative. Because of increased anti-SARS-CoV-2 IgG antibodies after maternal COVID-19, multisystem inflammatory syndrome of neonates was considered and intravenous immunoglobulin was administered. The clinical condition of the neonate deteriorated and due to laboratory evidence of hyperinflammation, hemophagocytic lymphohistiocytosis was suspected, and treatment with etoposide and dexamethasone was initiated with temporary stabilization. Gaucher disease type 2 was eventually diagnosed | ||
| 520 | |a CONCLUSION: Gaucher disease can rarely present in neonates as hemophagocytic lymphohistiocytosis | ||
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| 700 | 1 | |a Bouza, Helen |e verfasserin |4 aut | |
| 700 | 1 | |a Lykopoulou, Lilia |e verfasserin |4 aut | |
| 700 | 1 | |a Lianou, Loukia |e verfasserin |4 aut | |
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| 700 | 1 | |a Makis, Alexandros |e verfasserin |4 aut | |
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