Pancytopenia and Myelodysplastic Changes in Aceruloplasminemia: A Case with a Novel Pathogenic Variant in the Ceruloplasmin Gene

• Published in: Internal Medicine Vol. 57; no. 13; pp. 1905 - 1910
• Main Authors: Yamamura, Ayako, Kikukawa, Yoshitaka, Tokunaga, Kenji, Miyagawa, Eiko, Endo, Shinya, Miyake, Hirosada, Hata, Hiroyuki, Mitsuya, Hiroaki, Yoshida, Kunihiro, Matsuoka, Masao
• Format: Journal Article
• Language: English
• Published: Japan The Japanese Society of Internal Medicine 01.07.2018; Japan Science and Technology Agency
• Subjects: aceruloplasminemia; Aged; Amino acids; Bone dysplasia; Bone imaging; Bone marrow; Bone Marrow - pathology; Case Report; Ceruloplasmin; Ceruloplasmin - deficiency; Copper; copper deficiency; Deposition; Differential diagnosis; Female; Humans; Internal medicine; Iron Metabolism Disorders - complications; Lymph nodes; Lymphadenopathy; Magnetic Resonance Imaging; Neurodegenerative Diseases - complications; Organs; Pancytopenia; Pancytopenia - complications; Trace elements; Trace Elements - blood; pancytopenia; copper deficiency; aceruloplasminemia
• ISSN: 0918-2918; 1349-7235
• DOI: 10.2169/internalmedicine.9496-17

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.