CC BY-NC-ND 4.0 · J Neurosci Rural Pract 2017; 08(S 01): S117-S119
DOI: 10.4103/jnrp.jnrp_112_17
Case Report
Journal of Neurosciences in Rural Practice

Diabetes Mellitus as the Presenting Feature of Friedreich's Ataxia

Meenal Garg
Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Mumbai, Maharashtra, India
,
Shilpa D. Kulkarni
Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Mumbai, Maharashtra, India
,
Krishnakumar N. Shah
Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Mumbai, Maharashtra, India
,
Anaita Udwadia Hegde
Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Mumbai, Maharashtra, India
› Author Affiliations
Further Information

Publication History

Publication Date:
03 September 2019 (online)

ABSTRACT

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.