Adrenal insufficiency in a child with MELAS syndrome
Paediatrics and Child Health
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.
Publication ( Name of Journal)
Brain and Development
(2014). Adrenal insufficiency in a child with MELAS syndrome. Brain and Development, 36(10), 924-927.
Available at: https://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_paediatr/220