First Presentation of Diabetes as Diabetic Ketoacidosis in a Case of Friedreich’s Ataxia

Individuals with Friedreich’s ataxia (FA) have an increased risk of developing diabetes. However, the type, onset, and course of diabetes in people with FA are not well characterized. In FA-associated diabetes, both insulin deficiency and insulin resistance have been reported. The presentation and clinical features of diabetes that occur in patients with FA cannot be distinguished from those occurring in other types of young-onset diabetes patients. Diabetes in FA is apparently always discovered long after the onset of neurological disability. However, the diabetes onset may be acute, with patients requiring insulin at diagnosis for effective control of blood glucose. We recently identified one such case of FA and diabetes in which the first presentation of diabetes was with diabetic ketoacidosis (DKA). More intriguing was that the FA was diagnosed after the patient was admitted with diabetes, and the diabetes was strictly insulin-dependent and ketosis-prone. Moreover, the immune markers typical of type 1 diabetes were absent.