Cerebellar vermis hypoplasia and bilateral basal ganglia calcification in maternally inherited diabetes and deafness

Neurol Sci. 2023 Apr;44(4):1469-1470. doi: 10.1007/s10072-022-06529-3. Epub 2022 Dec 1.

Abstract

Maternally inherited diabetes and deafness (MIDD) is a rare diabetic syndrome mainly caused by a point mutation in the mitochondrial DNA. It affects up to 1% of patients with diabetes but is often unrecognized by physicians. We report a case of MIDD in a 29-year-old man with coexisting imaging of cerebellar vermis hypoplasia and bilateral basal ganglia calcification.

Keywords: Basal ganglia calcification; Cerebellar vermis hypoplasia; Genetic; Maternally inherited diabetes and deafness; Mitochondrial.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Basal Ganglia / diagnostic imaging
  • Basal Ganglia Diseases* / complications
  • Basal Ganglia Diseases* / diagnostic imaging
  • Basal Ganglia Diseases* / genetics
  • Cerebellar Vermis*
  • DNA, Mitochondrial / genetics
  • Deafness* / complications
  • Deafness* / diagnostic imaging
  • Deafness* / genetics
  • Diabetes Mellitus, Type 2* / complications
  • Humans
  • Male
  • Mitochondrial Diseases* / complications

Substances

  • DNA, Mitochondrial

Supplementary concepts

  • Noninsulin-dependent diabetes mellitus with deafness