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Journal of Pediatric Neurology 2022; 20(01): 037-040
DOI: 10.1055/s-0041-1722954
Case Report

A Variant in SLC25A4 Leads to Mitochondrial DNA-Depletion Syndrome-12A Causing Neonatal Hypotonia and Hypoventilation

Kishore Pratap Sanghvi
1   Department of Neonatology, Saifee Hospital, Mumbai, Maharashtra, India
,
Shruti Bajaj
2   Department of Clinical Genetics, NH SRCC Hospital, Mumbai, Maharashtra, India
,
Sonal Mirani
3   Clinical Associate, Saifee Hospital, Mumbai, Maharashtra, India
› Author Affiliations Funding None.
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Abstract

Congenital hypotonia and hypoventilation is a rare association. We report a rare case of a female newborn with poor respiratory drive, ventilator dependency, severe hypotonia, cardiomyopathy, and premature death. Clinical-exome-sequencing revealed SLC25A4-related mitochondrial deoxyribonucleic acid (DNA) depletion syndrome-12A (cardiomyopathic type). This syndrome is apparent at birth and carries a poor prognosis.

Keywords

neonatal hypotonia - hypoventilation - cardiomyopathy - infant - newborn

Authors' Contributions

All the authors took part in clinical management and manuscript preparation.




Publication History

Received: 07 November 2020

Accepted: 22 December 2020

Article published online:
02 February 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
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