Ardhi Rahman Ahani, Cosphiadi Irawan, Agnes Stephanie Harahap, Klara Yuliarti, Maria Francisca Ham, Faramitha Nur Izzaty, Damayanti Rusli Sjarif
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Abstract
A 44-year-old female presented with a distended abdomen and fatigue. On physical examination, prominent splenomegaly was found. The laboratory investigations revealed pancytopenia and decreased albumin-globulin ratio. The abdominal ultrasonography revealed splenomegaly, cholelithiasis, and cystitis, and the bone survey showed osteopenia. Differential diagnoses included leukemia, multiple myeloma, and myelofibrosis therefore bone marrow puncture was performed. However, histopathologic examination found Gaucher-like cells in the bone marrow aspiration. The finding of CD68 positivity in Gaucher-like cells by using the immunohistochemistry staining supporting Gaucher disease. To confirm the diagnosis, an examination of glucocerebroside substrate from the patient's blood plasma was performed. Glucosylsphingosine, a deacylated form of glucosylceramide, was markedly elevated. Therefore, the diagnosis of Gaucher disease was confirmed. This is the first reported adult Gaucher case diagnosed in Indonesia.
期刊介绍：
Acta Medica Indonesiana – The Indonesian Journal of Internal Medicine is an open accessed online journal and comprehensive peer-reviewed medical journal published by the Indonesian Society of Internal Medicine since 1968. Our main mission is to encourage the novel and important science in the clinical area in internal medicine. We welcome authors for original articles (research), review articles, interesting case reports, special articles, clinical practices, and medical illustrations that focus on the clinical area of internal medicine. Subjects suitable for publication include, but are not limited to the following fields of: -Allergy and immunology -Emergency medicine -Cancer and stem cells -Cardiovascular -Endocrinology and Metabolism -Gastroenterology -Gerontology -Hematology -Hepatology -Tropical and Infectious Disease -Virology -Internal medicine -Psychosomatic -Pulmonology -Rheumatology -Renal and Hypertension -Thyroid
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