Endocrine Abstracts

Introduction: Friedreich ataxia (FA) is a multisystem autosomal recessive disease with progressive clinical course involving the neuromuscular and endocrine system. Individuals with FA have an increased risk of developing diabetes. In FA-associated diabetes, both insulin deficiency and insulin resistance have been reported. We present a case with FA, presented with diabetic ketoacidosis (DKA) as the first presentation of diabetes mellitus.

Case Presentation: We present a case of 40-years-old male who presented to emergency unit with DKA. It was not known to be diabetic before. He had a 6months history of physical weakness, weight loss, polyuria-polydipsia syndrome, dry mouth. For the last 3 days, he complained of constipation, chesty cough, dyspnea, abdominal pain, vomitingafter having a viral infection. The patient was diagnosed with FA, muscular dystrophy at the age of 15. No family history of diabetes mellitus. His physical examination revealed, coma, dry and pale mucous membranes and skin, bilateral basal crepitant rales, on lungs auscultation. Abdomen soft but painful on palpation, peripheral edema more pronounced in superior extremities. Laboratory tests showed: Hyperglycemia, severe metabolic acidosis, urinary ketones. Leukocytosis with neutrophilia. Hyperuricemia, hypoalbuminemia. Increased level of urea and creatinine. Very low C-Peptide level, but the immune markers typical of type 1 diabetes were negative. High level of HbA1c. We concluded with the diagnosis: DKA and diabetes mellitus for the first time in a subject with FA. He was treated with insulin, liquids and electrolytes, nasal oxygen, diuretics, antibiotics, vitamins, anticoagulant until the stabilization of acid basebalance, glycaemia and lungs infection. After that, the patient was noted to have difficulties with standing, inability to walk, difficulty in speaking and reduced hearing because of FA. The ECG showed sinus rhythm, T waves negative in almost connections. Head MRI: atrophic changes of the brain. The patient discharged after 12 days, keeping diabetes under a good control with insulin, helped by his family members.

Conclusion: The association of diabetes mellitus with Friedreich’s ataxia has been reported from time to time in the literature. DKA can be the presentation of diabetes mellitus in a patient with FA. The physicians must be aware about it to diagnose diabetes in time and to treat it early without reaching DKA, this life-threatening situation.