LEBRETON, Louis; GASCHIGNARD, Margaux; GUIBET, Claire; LAMIREAU, Delphine; ROCHE, Sandrine; RICHARD, Emmanuel; GED, Cecile; MESLI, Samir; REDONNET-VERNHE, Isabelle

doi:10.1002/jmd2.12346

LEBRETON, Louis
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]

GASCHIGNARD, Margaux

GUIBET, Claire
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]

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Article de revue

Ce document a été publié dans

JIMD reports. 2023-01-01, vol. 64, n° 1, p. 35-41

Résumé en anglais

Primary carnitine deficiency (PCD) is an inherited disease of fatty acid beta-oxidation with autosomal recessive inheritance. The disease manifests as metabolic decompensation with hypoketotic hypoglycaemia associated with cardiomyopathy, hepatomegaly, rhabdomyolysis, and seizures. Various outcomes are described from asymptomatic adults to dramatic sudden infant death syndrome cases. We present a severe case of PCD decompensation in an 18-week-old female. She presented with hypotonia, moaning, diarrhea, and vomiting at the pediatric emergency. Initially suspected as intracranial hypertension, the clinical condition evolved rapidly and caused a reversible cardiac arrest with profound hypoglycemia. Despite carnitine supplementation, she succumbed from cardiac arrhythmia and multivisceral failure 4 days after admission. The genetic analyses showed a PCD with biallelic pathogenic variants of gene. The case report is notable for the severity of the cardiac damage possibly favored by maternal carnitine deficiency during pregnancy. The analysis of previously published PCD cases highlights (i) the importance of having large access to emergency biochemical tests for early therapeutic care although the disease has unpredictable severity and (ii) the fact that the clinical outcome remains unpredictable if carnitine treatment is initiated late.< Réduire

Mots clés en anglais

Cardiomyopathy

Children

Fatty oxidation

Primary carnitine deficiency

URI

https://oskar-bordeaux.fr/handle/20.500.12278/184700

DOI

http://dx.doi.org/10.1002/jmd2.12346

Unités de recherche

Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211

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Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation.

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Résumé en anglais

Mots clés en anglais

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Unités de recherche