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.
Tuesday, October 4, 2022
Diabetes mellitus y ataxia de Friedreich en un niño: una difícil coexistencia [Diabetes mellitus and Friedreich´s ataxia in a child: a complicated coexistence]
Marqués Cabrero A, Expósito Raspeño M, Sánchez Escudero V, Gutiérrez Cruz N, González Vergaz A.; Arch Argent Pediatr. 2022 Oct;120(5):e223-e225. Spanish. doi: 10.5546/aap.2022.e223. Epub 2022 Aug 30. PMID: 36190225.
