A case of subacute combined degeneration of the spinal cord due to folic acid and copper deficiency

Brain Dev. 2019 Jan;41(1):111-115. doi: 10.1016/j.braindev.2018.07.006. Epub 2018 Aug 10.

Abstract

Subacute combined degeneration of the spinal cord (SACD) is a rare neurologic disorder manifesting progressive symptoms of paresthesia and spastic paralysis. Herein we present an autopsy case of SACD caused by folic acid and copper deficiency. A 16-year-old male presented with gradually worsening unsteady gait, and bladder and rectal dysfunction. He had a medical history of T-cell acute lymphoblastic leukemia (T-ALL), diagnosed 1.5 years previously. The patient had undergone chemotherapy, including methotrexate, as well as allogeneic bone mallow transplantation. Laboratory tests revealed normal vitamin B12 and methylmalonic acid concentration, but reduced serum copper, ceruloplasmin and folic acid concentrations. Magnetic resonance imaging revealed symmetrical T2 signal hyperintensities in the posterior and lateral spinal cord. The patient was treated with oral copper, oral folate, and intravenous vitamin B12. A month after this treatment, the patient's symptoms were unchanged, and 2 months later he died of acute adrenal insufficiency. The pathological findings of the spinal cord were compatible with SACD. Because SACD is usually reversible with early treatment, it should be suspected in high-risk patients undergoing chemotherapy or those who are malnourished with characteristic symptoms of SACD, even in young patients.

Keywords: Copper deficiency; Folic acid deficiency; Myelopathy; Subacute combined degeneration of the spinal cord.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adrenal Insufficiency
  • Copper / deficiency*
  • Fatal Outcome
  • Folic Acid Deficiency / complications*
  • Folic Acid Deficiency / diagnostic imaging
  • Folic Acid Deficiency / pathology
  • Folic Acid Deficiency / therapy
  • Humans
  • Male
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / drug therapy
  • Spinal Cord / diagnostic imaging
  • Spinal Cord / pathology
  • Subacute Combined Degeneration / diagnostic imaging
  • Subacute Combined Degeneration / etiology*
  • Subacute Combined Degeneration / pathology
  • Subacute Combined Degeneration / therapy

Substances

  • Copper