J Pediatr Intensive Care 2020; 09(01): 054-059
DOI: 10.1055/s-0039-1697620
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Fulminant Necrotizing Enterocolitis and Multiple Organ Dysfunction in a Toddler with Mitochondrial DNA Depletion Syndrome-13

Nicolas Nardi
1  Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Montreal, Canada
,
François Proulx
1  Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Montreal, Canada
,
Catherine Brunel-Guiton
1  Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Montreal, Canada
,
Luc L. Oligny
2  Department of Pediatric Pathology, Sainte-Justine Hospital, University of Montreal, Montreal, Canada
,
Nelson Piché
3  Department of Pediatric Surgery, Sainte-Justine Hospital, University of Montreal, Montreal, Canada
,
Grant A. Mitchell
1  Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Montreal, Canada
,
Jean Sébastien Joyal
1  Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Montreal, Canada
› Author Affiliations
Funding J.S.J. is supported by the Burroughs Wellcome Fund Career Award for Medical Scientists (1012321.01) and CIHR (141956, 390615).
Further Information

Publication History

04 May 2019

15 August 2019

Publication Date:
10 October 2019 (online)

Abstract

Necrotizing enterocolitis (NEC) is exceptional after the neonatal period. A toddler with encephalopathy, mitochondrial myopathy, and hypertrophic cardiomyopathy developed fatal NEC and multiple organ dysfunction within 48 hours of the introduction of enteral feeding. She was subsequently found to have pathogenic mutations in FBXL4, a cause of mitochondrial DNA depletion syndrome-13. Intestinal dysmotility in the context of deficient mitochondrial respiration may have contributed to the development of NEC. Current paradigms call for early introduction of enteral nutrition to reinstate energy homeostasis. Enteral feeding should be administered with caution during metabolic crises of patients with mitochondrial DNA depletion syndromes.