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Adrenal insufficiency in a child with MELAS syndrome

Bushra Afroze1, Nida Amjad1, Shahnaz H Ibrahim1

  • 1Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan.

Brain & Development
|February 11, 2014
PubMed

Insights

This study reports adrenal insufficiency in a child with MELAS phenotype, linked to a specific mitochondrial tRNA mutation. This is the first such pediatric case, highlighting a novel association in mitochondrial disease.

Area of Science:

  • Genetics and Molecular Biology
  • Pediatric Endocrinology
  • Neurology

Background:

  • Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) and Myoclonic Epilepsy with Ragged Red Fibers (MERRF) are distinct mitochondrial disorders.
  • Adrenal insufficiency is rarely associated with mitochondrial diseases, primarily noted in Kearns-Sayre Syndrome (KSS).
  • Specific tRNA point mutations (m.3243A>G for MELAS, m.8344A>G for MERRF) are characteristic genetic markers.

Observation:

  • A five-year-old boy presented with a clinical phenotype consistent with MELAS.
  • Genetic analysis revealed the m.8344A>G point mutation in tRNA, typically associated with MERRF.
  • The child exhibited hyperpigmentation of lips and gums, indicative of Addison disease, a form of adrenal insufficiency.

Findings:

  • The patient presented with a MELAS phenotype but carried the m.8344A>G tRNA mutation.
  • Adrenal insufficiency (Addison disease) was identified in this pediatric patient.
  • This represents the first documented case of adrenal insufficiency in a child with a MELAS phenotype.

Implications:

  • This case expands the known clinical spectrum of mitochondrial tRNA mutations.
  • It suggests a potential link between MELAS phenotype, specific tRNA mutations (m.8344A>G), and adrenal insufficiency in children.
  • Highlights the importance of investigating adrenal function in pediatric patients with mitochondrial disorders, even with atypical genetic findings.
Keywords:
Adrenal insufficiencyEndocrinopathyMELASMitochondriopathy

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