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

Abstract

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.

• Authors: Fernando Scaglia, Angela E Scheuerle, Jeffrey A Towbin, Dawna L Armstrong, Lawrence Sweetman, Lee-Jun C Wong
• Journal: BMC pediatrics (BMC Pediatr) Vol. 2 Pg. 12 (Dec 30 2002) ISSN: 1471-2431 [Electronic] England
• PMID: 12507404 (Publication Type: Case Reports, Journal Article)

Chemical References

• Biomarkers
• DNA, Mitochondrial
• Glutarates
• acylcarnitine
• 3-methylglutaconic acid
• Orotic Acid
• Carnitine

Topics

• Biomarkers (urine)
• Carnitine (analogs & derivatives, analysis)
• DNA, Mitochondrial (genetics)
• Female
• Glutarates (urine)
• Humans
• Infant, Newborn
• Mitochondrial Myopathies (complications, diagnosis, metabolism)
• Mutation
• Orotic Acid (urine)
• Reye Syndrome (complications, diagnosis, metabolism)
• Tachycardia, Ventricular (complications, metabolism)