Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Dec 6, 2023; 11(34): 8158-8163
Published online Dec 6, 2023. doi: 10.12998/wjcc.v11.i34.8158
Pulmonary fungal infection in a neonate with methylmalonic acidemia: A case report
Chun-Fang Gao, Dan Wang, Ling-Kong Zeng, Xu-Wei Tao
Chun-Fang Gao, Dan Wang, Ling-Kong Zeng, Xu-Wei Tao, Department of Neonatology, Wuhan Women and Children Medical Care Center, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430000, Hubei Province, China
Co-first authors: Chun-Fang Gao and Dan Wang.
Author contributions: All authors contributed to the study conception and design. Gao CF, Wang D, Zeng LK, and Tao XW contributed to the material preparation, data collection and analysis; Gao CF and Wang D wrote the first draft of the manuscript; and all authors commented on previous versions of the manuscript; and all authors read and approved the final manuscript.
Informed consent statement: Written informed consent was obtained from the legal guardian.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Xu-Wei Tao, PhD, Doctor, Department of Neonatology, Wuhan Women and Children Medical Care Center, Tongji Medical College, Huazhong University of Science and Technology, No. 100 Xianggang Road, Jiang’an Distinct, Wuhan 430000, Hubei Province, China. 18627850693@163.com
Received: July 16, 2023
Peer-review started: July 16, 2023
First decision: October 24, 2023
Revised: November 1, 2023
Accepted: November 24, 2023
Article in press: November 24, 2023
Published online: December 6, 2023
Abstract
BACKGROUND

Methylmalonic acidemia (MMA) is characterized by non-specific symptoms such as vomiting, and feeding difficulties, along with delayed mental and physical development. However, no case of MMA combined with pulmonary fungal infection has been reported yet.

CASE SUMMARY

We report the case of a neonate who presented pulmonary fungal infection along with the non-specific features of MMA. Exome sequencing revealed a c.331C>T variant in exon 3 of MMACHC from the father, and a c.658-c.660delAAG variant in exon 4 from the mother, which confirmed the diagnosis of cblC type MMA combined with hyperhomocysteinemia.

CONCLUSION

Invasive fungal infection might occur in some infants with MMA. Therefore, early diagnosis is recommended for unexplained pulmonary infection.

Keywords: MMACHC, Fungal infection, Genotype, Clinical approach, Case report

Core Tip: We have retrospectively reported the case of a neonate with pulmonary Aspergillus infection as the main clinical manifestation, which was later confirmed as methylmalonic acidemia (MMA) by full exon sequencing and blood amino acid/urine organic acid analysis. Our findings provide a novel clinical diagnostic approach for neonatal MMA.