Diabetes Mellitus as the Presenting Feature of Friedreich's Ataxia.

Autor: Garg, Meenal, Kulkarni, Shilpa D., Shah, Krishnakumar N., Hegde, Anaita Udwadia
Předmět:
Zdroj: Journal of Neurosciences in Rural Practice; 2017 Supplement, Vol. 8, p117-119, 3p
Abstrakt: Patients with Friedreich's ataxia (FA) are at an increased risk of developing diabetes mellitus and glucose intolerance. Diabetes usually develops many years after the initial presentation. We report an 8-year-old girl who initially presented with diabetic ketoacidosis and was treated as a case of insulin-dependent diabetes mellitus. Around a year later, she developed gait problems and ataxia. Cardiac involvement was detected on echocardiography. Genetic testing confirmed the diagnosis of FA. FA should be a diagnostic consideration in children presenting with diabetes and neurological issues, even with early presentation of the former. Early occurrence of diabetes and rapid progression of ataxia in this patient needs a better understanding of underlying genetic mechanisms. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index