Pancytopenia and Myelodysplastic Changes in Aceruloplasminemia: A Case with a Novel Pathogenic Variant in the Ceruloplasmin Gene.
Intern Med
; 57(13): 1905-1910, 2018 Jul 01.
Article
em En
| MEDLINE
| ID: mdl-29434149
ABSTRACT
A 72-year-old Japanese woman suffered from mild pancytopenia 3 years before her initial hospitalization. On admission, the levels of trace elements, particularly copper, and ceruloplasmin were significantly decreased in her blood serum. Abdominal lymphadenopathy and bone marrow dysplasia were detected. Hemosiderin deposition was observed in her lymph nodes and bone marrow, and magnetic resonance imaging suggested its deposition in various organs. A novel missense pathogenic variant (c.T1670G) was detected in the ceruloplasmin gene, resulting in an amino acid change (p.M557R). When copper deficiency is accompanied by cytopenia and dysplasia in a patient, it is worthwhile to consider a differential diagnosis of aceruloplasminemia.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Pancitopenia
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Ceruloplasmina
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Distúrbios do Metabolismo do Ferro
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Doenças Neurodegenerativas
Limite:
Aged
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Female
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Humans
Idioma:
En
Revista:
Intern Med
Assunto da revista:
MEDICINA INTERNA
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Japão