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[Diabetes mellitus and Friedreich´s ataxia in a child: a complicated coexistence]

Araceli Marqués Cabrero1, Mónica Expósito Raspeño2, Verónica Sánchez Escudero2

  • 1Servicio de Pediatría, Hospital Universitario Severo Ochoa, Madrid, España. aracelimarquescabrero@gmail.com.

Archivos Argentinos De Pediatria
|October 3, 2022
PubMed

Insights

Friedreich's ataxia, a genetic disorder, can lead to diabetes mellitus in children. This case highlights the challenges in managing metabolic control amidst progressive neurological decline in a pediatric patient.

Area of Science:

  • Genetics
  • Neurology
  • Endocrinology

Background:

  • Friedreich's ataxia is an autosomal recessive neurodegenerative disorder.
  • Trinucleotide repeat expansion is the genetic cause.
  • Systemic complications include diabetes mellitus.

Observation:

  • A 6-year-old boy presented with motor clumsiness, diagnosed with Friedreich's ataxia.
  • He later developed hypertrophic cardiomyopathy and overweight.
  • At 9 years old, he was diagnosed with diabetes mellitus.

Findings:

  • Neurological deterioration progressed, requiring wheelchair use.
  • Metabolic control was hindered by the patient's condition.
  • This case report details a pediatric patient with both Friedreich's ataxia and diabetes mellitus.

Implications:

  • Early recognition of systemic complications in Friedreich's ataxia is crucial.
  • Integrated care involving neurology and endocrinology is essential.
  • Understanding the interplay between neurological decline and metabolic control is vital for pediatric patients.

Keywords:
Friedreich’s ataxiadiabetes mellitusglucose metabolism disordersinsulininsulinsecreting cells

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