Progressive myeloneuropathy with symptomatic anaemia.
BMJ Case Rep
; 12(12)2019 Dec 02.
Article
em En
| MEDLINE
| ID: mdl-31796451
ABSTRACT
Hypocupremia is a rare and under-recognised cause of bone marrow dysplasia and myeloneuropathy. A 47-year-old Caucasian woman had progressive ascending peripheral neuropathy and gait ataxia over 3 months and fatigue, dyspnoea and unintentional weight loss over 8 months. She had profound macrocytic anaemia and neutropenia. Initial workup included normal serum vitamin B12 Bone marrow biopsy was suggestive of copper deficiency. Serum copper levels were later confirmed to be undetectable. The patient received oral copper repletion which resulted in complete normalisation of haematological abnormalities 16 weeks later. However, neurological deficits persisted. This case describes a delayed diagnosis of hypocupremia as initially suggested through invasive testing. Associating myeloneuropathy with cytopenia is imperative for accurate and prompt diagnosis of hypocupremia, which can be confirmed by serum analysis alone. Developing an accurate differential diagnosis can help prevent unnecessary procedures. Furthermore, initiating prompt copper repletion prevents further neurological impairment. Neurological deficits are often irreversible.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Zinco
/
Cobre
/
Marcha Atáxica
/
Cimentos Dentários
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Middle aged
Idioma:
En
Revista:
BMJ Case Rep
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Estados Unidos