Abstract 63: A case report of friedreich ataxia (FA) associated with diabetes mellitus and hypertrophic cardiomyopathy “A tri prong approach in the management of insulin autoimmune syndrome”

Abstract

Introduction: Friedreich ataxia (FA) is a multisystem autosomal recessive disease with progressive involvement of the central and peripheral nervous system, and endocrine system. Diabetes mellitus (DM) is one typical non-neurological manifestation. Diabetes is due to insulin resistance and progressive beta cell dysfunction.Case Report: 11 years old girl was suspected of Friedreich ataxia when presented with difficulty of walking, getting up, and recurrent falls. Examination revealed positive Romberg's test, areflexia with bilateral extensor plantar reflexes. Genetic analysis of the Frataxin gene confirmed the expanded trinucleotide GAA repeats +250. At the age of 16 years, she presented to ER with diabetic ketoacidosis. At18years, follow-up evaluation showed hypertrophic cardiomyopathy. She had progressive neurodegeneration and is wheelchair-bound with severe sensory-motor peripheral neuropathy. Presently, she is 21 years and on the basal-bolus insulin regimen with a TDD of 96 units and beta-blockers for cardiomyopathy.Discussion: Mitochondrial dysfunction at the liver, muscles, adipocytes are associated with insulin resistance. β cell dysfunction with eventual loss of Islets of Langerhans causing diabetes in FA. Mortality in FA is secondary to diabetes or related complications and cardiomyopathy.Conclusion: Currently, no effective treatment is available for FA. Optimal Diabetes and cardiomyopathy management is essential in the management of FA.