title: Adrenal insufficiency in a child with MELAS syndrome.
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.
authors: Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan.
authors: Bushra
authors: B
authors: Afroze
authors: Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan.
authors: Nida
authors: N
authors: Amjad
authors: Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan. Electronic address: shahnaz.ibrahim@aku.edu.
authors: Shahnaz H
authors: SH
authors: Ibrahim
authors: Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan.
authors: Khadija Nuzhat
authors: KN
authors: Humayun
authors: Molecular Diagnostics & Protein Unit, Institute for Medical Research, Kuala Lumpur, Malaysia.
authors: Yusnita
authors: Y
authors: Yakob
mesh_terms: D000140:Acidosis, Lactic; D000309:Adrenal Insufficiency / Q000150:complications*; D000324:Adrenocorticotropic Hormone / Q000378:metabolism; D002675:Child, Preschool; D006801:Humans; D017495:Hyperpigmentation / Q000209:etiology; D017241:MELAS Syndrome / Q000150:complications* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D012343:RNA, Transfer / Q000235:genetics; D012083:Renin / Q000378:metabolism; D013972:Thyrotropin / Q000378:metabolism; D015898:Tomography Scanners, X-Ray Computed
chemical_list: D000324:Adrenocorticotropic Hormone; D013972:Thyrotropin; D012343:RNA, Transfer; D012083:Renin
keywords: Adrenal insufficiency; Endocrinopathy; MELAS; Mitochondriopathy