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Brain Dev. 2014 Nov;36(10):924-7. doi: 10.1016/j.braindev.2013.12.009. Epub 2014 Feb 5.

Adrenal insufficiency in a child with MELAS syndrome.

Author information

1
Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan.
2
Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan. Electronic address: shahnaz.ibrahim@aku.edu.
3
Molecular Diagnostics & Protein Unit, Institute for Medical Research, Kuala Lumpur, Malaysia.

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.

KEYWORDS:

Adrenal insufficiency; Endocrinopathy; MELAS; Mitochondriopathy

PMID:
24508408
DOI:
10.1016/j.braindev.2013.12.009
[Indexed for MEDLINE]

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