Diabetes Mellitus as the Presenting Feature of Friedreich's Ataxia

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.

Steroid-responsive Encephalopathy Associated with Autoimmune Thyroiditis (SREAT) Presenting with Pure Cerebellar Ataxia

“… 24 One case report described a FA patient who presented with type 1 diabetes. 25 However, this patient subsequently developed ataxia a year later. Our patient had diabetes over 6 years before she developed ataxia.…”

“…In one large series of 90 FA families, the mean duration of ataxia at the onset of diabetes was 15.5 ± 6.82 years 24. One case report described a FA patient who presented with type 1 diabetes 25. However, this patient subsequently developed ataxia a year later.…”

Plasma multi-omics analysis reveals very long chain ceramides as validated biomarkers of Friedreich’s ataxia

“…Friedreich’s Ataxia (FRDA) is an autosomal recessive neurodegenerative disease characterized by progressive mobility loss, impairment of speech, 1 and eventual loss of vision 2 and hearing 3 . Individuals with FRDA exhibit clinical manifestations of ataxia, hypertrophic cardiomyopathy, scoliosis, and diabetes mellitus 4–7 . Cardiac complications are the major cause of early death in FRDA 8 .…”

“…Individuals with FRDA exhibit clinical manifestations of ataxia, hypertrophic cardiomyopathy, scoliosis, and diabetes mellitus [4][5][6][7] . Cardiac complications are the major cause of early death in FRDA 8 .…”

Friedreich Ataxia: Clinical Feature and Electrophysiological Symptoms

“…In general, results of electrophysiologic studies including visual, auditory brainstem, and somatosensory-evoked potentials are often abnormal. [6] In the article "Diabetes Mellitus as the Presenting Feature of Friedreich Ataxia," [7] the authors report a case of an 8-year girl who initially presented with diabetic ketoacidosis and was treated as case of insulin dependent diabetes mellitus. Furthermore, they report an axonal type of generalized sensory neuropathy and lower MCV in tibial nerve.…”