A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice

Akihiro Kirimura; Hajime Yasuhara; Soshi Hachisuka; Kumiko Takagi; Reiko Ebisu; Ayako Ohgitani; Hideki Minowa

doi:10.1155/2022/1594364

Case Reports in Genetics (Jan 2022)

A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice

Akihiro Kirimura,
Hajime Yasuhara,
Soshi Hachisuka,
Kumiko Takagi,
Reiko Ebisu,
Ayako Ohgitani,
Hideki Minowa

Affiliations

Akihiro Kirimura: Department of Neonatal Intensive Care Unit
Hajime Yasuhara: Department of Neonatal Intensive Care Unit
Soshi Hachisuka: Department of Neonatal Intensive Care Unit
Kumiko Takagi: Department of Neonatal Intensive Care Unit
Reiko Ebisu: Department of Neonatal Intensive Care Unit
Ayako Ohgitani: Department of Neonatal Intensive Care Unit
Hideki Minowa: Department of Neonatal Intensive Care Unit

DOI: https://doi.org/10.1155/2022/1594364
Journal volume & issue: Vol. 2022

Abstract

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We report a patient diagnosed with a COL4A1 mutation in the early postnatal period. Patients with early postnatal jaundice, intracranial lesions that are negative for TORCH syndrome, and recurrent hemolytic anemia should be suspected of having a COL4A1/COL4A2 gene mutation.

Published in Case Reports in Genetics

ISSN: 2090-6544 (Print); 2090-6552 (Online)
Publisher: Hindawi Limited
Country of publisher: United Kingdom
LCC subjects: Science: Biology (General): Genetics
Website: https://onlinelibrary.wiley.com/journal/4918

About the journal