Adrenal insufficiency in a child with MELAS syndrome

Bushra Afroze, Nida Amjad, Shahnaz H. Ibrahim, Khadija Nuzhat Humayun, Yusnita Yakob

Research output: Contribution to journalArticlepeer-review

13 Citations (Scopus)

Abstract

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) are established subgroups of mitochondrial encephalomyopathy. m.3243A. >. G a common point mutation is detected in tRNA in majority of patients with MELAS phenotype whereas m.8344A. >. G point mutation in tRNA is observed, in MERRF phenotype. Adrenal insufficiency has not been reported in mitochondrial disease, except in Kearns-Sayre Syndrome (KSS), which is a mitochondrial deletion syndrome. We report an unusual presentation in a five year old boy who presented with clinical phenotype of MELAS and was found to have m.8344A. >. G mutation in tRNA. Addison disease was identified due to hyperpigmentation of lips and gums present from early childhood. This is the first report describing adrenal insufficiency in a child with MELAS phenotype.

Original languageEnglish
Pages (from-to)924-927
Number of pages4
JournalBrain and Development
Volume36
Issue number10
DOIs
Publication statusPublished - 1 Nov 2014

Keywords

  • Adrenal insufficiency
  • Endocrinopathy
  • MELAS
  • Mitochondriopathy

Fingerprint

Dive into the research topics of 'Adrenal insufficiency in a child with MELAS syndrome'. Together they form a unique fingerprint.

Cite this