Abstract
Background: Mitochondrial diseases are caused by genetic defects that occur in either the mitochondrial DNA or the nuclear DNA. The heterogeneity, variable expressivity, age independence, and multiorgan system involvement all often lead to delayed diagnoses. Multiple endocrine complications can arise with mitochondrial disease. Foremost is diabetes, which has a prevalence of 11% to 15% in mitochondrial disorders. Age of diagnosis on average is 32 to 38 years but is variable. Arthrogryposis multiplex congenita refers to a group of conditions including multiple congenital contractures in varied areas of the body. We report a case of 16 years female with Arthrogryposis multiplex congenita who presented with diabetes.Case Report: A 16 years female presented with weight loss, polyuria and random blood sugar of 253 mg/dl. Born to non-consanguineous parents. Antenatal history of mother was uneventful. History of bony contractures was present since birth. There was delay of gross motor development. Intelligence is normal. Height is 132 cm (<3rd centile). Attained menarche at 13 years. Cycles are regular. History of bilateral hearing loss was present since childhood. She was started on basal bolus insulin therapy. The clinical features are pointing towards a form of mitochondrial diabetes with GFM2 mutation, Leigh syndrome.
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