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Mulberry Body

  • Ryohei Ono
    Correspondence
    Correspondence to: Dr. Ryohei Ono, Department of Cardiovascular Medicine, Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo-ku, Chiba 260-8670, Japan, Tel: +81-43-226-2555, Fax: +81-43-226-2557
    Affiliations
    Department of Cardiovascular Medicine, Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo-ku, Chiba 260-8670, Japan
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  • Masanori Hirose
    Affiliations
    Department of Cardiovascular Medicine, Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo-ku, Chiba 260-8670, Japan
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  • Yoshio Kobayashi
    Affiliations
    Department of Cardiovascular Medicine, Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo-ku, Chiba 260-8670, Japan
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Published:November 06, 2022DOI:https://doi.org/10.1016/j.amjmed.2022.10.011
      A 73-year-old man presented with dyspnea on exertion. Physical examination showed mild peripheral edema without chest murmur or crackles. An electrocardiogram showed sinus rhythm with complete right bundle branch block. Moreover, transthoracic echocardiography demonstrated remarkable left ventricular hypertrophy with preserved ejection fraction. Laboratory findings revealed elevation of serum creatinine, troponin I and brain natriuretic peptide. Of note, regular urinalysis tests showed proteinuria and “mulberry body” consisting of fat with a whorl-like appearance in the urinary sediment (Figure 1). Further investigations revealed decreased level of the alpha-galactosidase activity and identification of IVS4+919G>A mutation, which confirmed the definitive diagnosis of Fabry disease. After initiation of diuretics and enzyme replacement therapy with agalsidase alpha, his dyspnea resolved. At follow-up 4 years after presentation, he was doing well and had no further cardiac symptoms.
      Figure 1
      Figure 1: Mulberry body consisting of fat with a whorl-like appearance in the urinary sediment (arrow).

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