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Young woman with vitamin B12 deficiency neurologic syndrome due to late-onset cobalamin C deficiency (serial MRI studies of brain and spinal cord)

At the time of diagnosis, brain MRI showed diffuse white matter lesions in both hemispheres (T2) with diffusion restriction (A and B), and spinal MRI revealed subacute combined degeneration of the cord (C). After 42 months of treatment, brain MRI showed cerebral atrophy and a regression of the white matter lesions (D and E) and spinal MRI showed regression of the spinal lesions (F). (Source: Ailliet S, Vandenberghe R, Schiemsky T, et al. A case of vitamin B12 deficiency neurological syndrome in a young adult due to late-onset cobalamin C [CblC] deficiency: a diagnostic challenge. Biochem Med [Zagreb] 2022;32[2]:020802. Creative Commons Attribution License,

Associated Disorders

  • Alcohol-tobacco amblyopia
  • Cerebral vascular disease
  • Dementia
  • Depression
  • Developmental delay
  • Folate deficiency
  • Gastric resection
  • Glossitis
  • Imerslund-Grasbeck syndrome
  • Malabsorption
  • Megaloblastic anemia
  • Myelopathy
  • Optic neuropathy
  • Pernicious anemia
  • Polyneuropathy
  • Regional enteritis
  • Subacute combined degeneration of the spinal cord