Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism

BMC Pediatrics

Lee-Jun C Wong⁶  Lawrence Sweetman¹  Dawna L Armstrong³  Jeffrey A Towbin²  Angela E Scheuerle⁴  Fernando Scaglia⁵ 

[1]Baylor Institute of Metabolic Disease, Dallas, TX, 75226, USA

[2]Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA

[3]Department of Pathology, Baylor College of Medicine, Houston, TX, 77030, USA

[4]Texas Birth Defects Research Center, Dallas, TX, USA

[5]Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA

[6]Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington DC, 20007, USA

关键词: 3-Methylglutaconic aciduria;    Reye-like syndrome;    Ventricular tachycardia;    Mitochondrial dysfunction;   

Others  :  1181738
DOI  :  10.1186/1471-2431-2-12

 received in 2002-10-16, accepted in 2002-12-30,  发布年份 2002

【 摘 要 】

Background

Hyperammonemia, hypoglycemia, hepatopathy, and ventricular tachycardia are common presenting features of carnitine-acylcarnitine translocase deficiency (Mendelian Inheritance in Man database: *212138), a mitochondrial fatty acid oxidation disorder with a lethal prognosis. These features have not been identified as the presenting features of mitochondrial cytopathy in the neonatal period.

Case presentation

We describe an atypical presentation of mitochondrial cytopathy in a 2 day-old neonate. She presented with a Reye-like syndrome episode, premature ventricular contractions and ventricular tachycardia. Initial laboratory evaluation exhibited a large amount of 3-methylglutaconic acid on urine organic acid analysis, mild orotic aciduria and a nonspecific abnormal acylcarnitine profile. The evaluation for carnitine-acylcarnitine translocase deficiency and other fatty acid oxidation disorders was negative. The patient later developed a hypertrophic cardiomyopathy and continued to be affected by recurrent Reye-like syndrome episodes triggered by infections. A muscle biopsy exhibited signs of a mitochondrial cytopathy. During the course of her disease, her Reye-like syndrome episodes have subsided; however, cardiomyopathy has persisted along with fatigue and exercise intolerance.

Conclusions

This case illustrates that, in the neonatal period, hyperammonemia and ventricular tachycardia may be the presenting features of a lethal carnitine-acylcarnitine translocase deficiency or of a mitochondrial cytopathy, associated with a milder clinical course. This association broadens the spectrum of presenting phenotypes observed in patients with disturbed mitochondrial energy metabolism. Also, the presence of 3-methylglutaconic aciduria suggests mitochondrial dysfunction and mild orotic aciduria could potentially be used as a marker of mitochondrial disease.

【 授权许可】

   
2002 Scaglia et al; licensee BioMed Central Ltd. This is an Open Access article: verbatim copying and redistribution of this article are permitted in all media for any purpose, provided this notice is preserved along with the article's original URL.

【 图 表 】

Figure 1.

Figure 2.

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