• Sakura Hosoba, Katsuyuki Kito, Yukako Teramoto, Kaori Adachi, Ryota Nakanishi, Ai Asai, Masaki Iwasa, Rie Nishimura, Suzuko Moritani, Masahiro Kawahara, Hitoshi Minamiguchi, Eiji Nanba, Ryoji Kushima, and Akira Andoh.
• Division of Hematology, Department of Internal Medicine, Shiga University of Medical Science, Otsu Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Yonago Department of Clinical Laboratory Medicine, Shiga University of Medical Science, Shiga, Japan.
• Medicine (Baltimore). 2018 Jul 1; 97 (27): e11361e11361.

RationaleGaucher disease (GD) is an autosomal recessive disorder that leads to multiorgan complications caused by β-glucocerebrosidase deficiency due to mutations in the β-glucocerebrosidase-encoding gene (GBA). GD morbidity in Japan is quite rare and clinical phenotype and gene mutation patterns of patients with GD in Japan and Western countries differ considerably. Of Japanese patients with GD, 57% develop types 2 or 3 GD with neurologic manifestations and younger onset, whereas only 6% of patients with GD develop those manifestations in Western countries. Thus, it is relatively difficult to find and diagnose GD in Japan.Patient ConcernsA 69-year-old Japanese female with mild anemia and thrombocytopenia but without neurologic symptoms was initially referred for gastric cancer. Preoperative F-deoxyglucose positron emission tomography/computed tomography (FDG PET/CT) showed accumulation in the bone marrow and paraabdominal lymph nodes. Following bone marrow aspiration found, abnormal foamy macrophages in the bone marrow and electron microscopy revealed that the macrophages were filled with tubular-form structures. Adding to these signs suggestive of a lysosomal disease, serum β-glucocerebrosidase activity test found decreased. Sequencing of the patient's GBA gene revealed a RecNciI recombinant mutation and the novel mutation K157R (c.587A>G).DiagnosesOn the basis of these findings and clinical manifestations, the final diagnosis of type 1 GD was made.InterventionsEnzyme replacement therapy (ERT) with velaglucerase α was started after the diagnosis of type 1 GD.OutcomesThe patient's β-glucocerebrosidase activity as well as hemoglobin and platelet levels were restored by ERT without any side effects. Bone marrow aspirations 10 months after the start of the treatment with velaglucerase α showed reduction of Gaucher cells in bone marrow to 2% from 4% of total cellularity.LessonsThis is the first report of F-FDG PET/CT application providing a clue for GD diagnosis. A novel mutation in GBA is described, which implies a potential pool of patients with GD with this mutation in Japan.

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