Journal of Pediatric Neurology
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.

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.

Authors' Contributions

K.P.S. Clinical management and manuscript preparation.


S.B.: Clinical management and manuscript preparation.


S.M.: Clinical management and manuscript preparation.




Publication History

Received: 07 November 2020

Accepted: 22 December 2020

Publication Date:
02 February 2021 (online)

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