Marqués Cabrero Araceli, Expósito Raspeño Mónica, Sánchez Escudero Verónica, Gutiérrez Cruz Nuria, González Vergaz Amparo
Servicio de Pediatría, Hospital Universitario Severo Ochoa, Madrid, España.
Arch Argent Pediatr. 2022 Oct;120(5):e223-e225. doi: 10.5546/aap.2022.e223. Epub 2022 Aug 30.
Friedreich's ataxia is an autosomal recessive disease caused by trinucleotide repeat expansion, presenting among other systemic complications, diabetes mellitus. The appearance of motor clumsiness, with running and jumping difficulties in a 6-year-old boy prompted the genetic study of Friedreich's ataxia, confirming his diagnosis. After diagnosis, it was evaluated by Pediatric Cardiology, detecting the presence of non-obstructive hypertrophic cardiomyopathy, and by Pediatric Endocrinology, due to overweight. At 9 years of age, he was diagnosed with diabetes mellitus, a regimen of insulin treatment was initiated. During follow-up, he presented significant neurological deterioration, reaching the use of a wheelchair, which hinders adequate metabolic control. This is a report of a pediatric patient with Friedrich ataxia and diabetes mellitus.