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Progressive myeloneuropathy with symptomatic anaemia.

Charlene L Rohm1,2, Sara Acree2,3, Louis Lovett4,2

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Hypocupremia, a rare copper deficiency, can cause bone marrow issues and nerve damage. Prompt diagnosis and copper repletion are crucial for treatment, though neurological deficits may persist.

Keywords:
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Area of Science:

  • Hematology
  • Neurology
  • Nutritional Science

Background:

  • Hypocupremia (copper deficiency) is an under-recognized cause of myeloneuropathy and bone marrow dysplasia.
  • Early diagnosis is often missed due to non-specific symptoms.

Observation:

  • A 47-year-old woman presented with progressive neuropathy, ataxia, fatigue, dyspnea, and weight loss.
  • She exhibited profound macrocytic anemia and neutropenia, with bone marrow biopsy suggestive of copper deficiency.

Findings:

  • Serum copper levels were undetectable, confirming hypocupremia.
  • Oral copper repletion normalized hematological abnormalities within 16 weeks.
  • Neurological deficits, however, persisted despite treatment.

Implications:

  • Prompt diagnosis of hypocupremia is essential, linking myeloneuropathy with cytopenia.
  • Serum copper analysis alone can confirm the diagnosis, avoiding invasive procedures.
  • Early copper repletion is vital to prevent irreversible neurological damage.