The patient, a 28-year-old male, had experienced splenomegaly for four years with lymphadenopathy for more than two months and presented to the First Affiliated Hospital of the Naval Medical University on October 16th, 2024. On July 31, 2024, he noticed right upper quadrant pain, and an enhanced abdominal CT performed in an external facility revealed splenomegaly with a rounded nodular lesion at the splenic hilum, suggestive of an accessory spleen; in addition to retroperitoneal lymphadenopathy, while tumor marker levels were unremarkable. A complete blood count on August 22nd, 2024, demonstrated leukopenia (2.22×10 9/L), hemoglobin level of 144 g/L, and thrombocytopenia (60×10 9/L). To further elucidate the diagnosis, the patient visit our hematology clinic on August 26th, 2024. His physical examination was normal in general condition, except for a firm palpable spleen 10 cm below the left costal margin, and ultrasonography revealed right thyroid nodule and hepatosplenomegaly. Because of hepatosplenomegaly and retroperitoneal lymphadenopathy, a PET-CT scan was performed. The scan confirmed marked hepatosplenomegaly, multiple enlarged lymph nodes in the retroperitoneal and mesenteric regions with increased metabolic activity, and evidence of elevated bone metabolic activity in the proximal limbs and axial skeleton. Given the possibility of a hematologic lymphoproliferative disorder, a bone marrow biopsy was recommended. On September 12th, 2024, the patient underwent a bone marrow biopsy for evaluations of cell morphology, initial lymphoma immunophenotyping, cytogenetic analysis, and lymphoma-related FISH testing. Flow cytometry, cytogenetic analysis, and FISH results on September 14th, 2024, were unremarkable, manual microscopy of bone marrow morphological evaluation revealed a small population of poorly differentiated lymphocytes; additionally, AI-assisted automated cell scan identified a subset of abnormal cells suspected to be ′Gaucher cells′. Bone marrow pathology indicated a histiocytic neoplasm accompanied by stage 2 myelofibrosis (MF), with tumor cells comprising approximately 70% of the nucleated cells in the marrow, suggesting immunohistochemistry for confirmation. On October 16th, immunohistochemical analysis confirmed the presence of a histiocytic proliferative disorder suspecting Gaucher disease. After admission, the patient initiated enzyme replacement therapy, receiving an initial intravenous dose of 60 U/kg in a weekly basis. On October 31st, 2024, based on enzyme activity assays, genetic testing, and other results, adult Gaucher disease was finally diagnosed. The patient was scheduled for follow-up with stable vital signs, and reduced size of the spleen compared with previous assessments.

The patient, a 28-year-old male, had experienced splenomegaly for four years with lymphadenopathy for more than two months and presented to the First Affiliated Hospital of the Naval Medical University on October 16th, 2024. On July 31, 2024, he noticed right upper quadrant pain, and an enhanced abdominal CT performed in an external facility revealed splenomegaly with a rounded nodular lesion at the splenic hilum, suggestive of an accessory spleen; in addition to retroperitoneal lymphadenopathy, while tumor marker levels were unremarkable. A complete blood count on August 22nd, 2024, demonstrated leukopenia (2.22×10 9/L), hemoglobin level of 144 g/L, and thrombocytopenia (60×10 9/L). To further elucidate the diagnosis, the patient visit our hematology clinic on August 26th, 2024. His physical examination was normal in general condition, except for a firm palpable spleen 10 cm below the left costal margin, and ultrasonography revealed right thyroid nodule and hepatosplenomegaly. Because of hepatosplenomegaly and retroperitoneal lymphadenopathy, a PET-CT scan was performed. The scan confirmed marked hepatosplenomegaly, multiple enlarged lymph nodes in the retroperitoneal and mesenteric regions with increased metabolic activity, and evidence of elevated bone metabolic activity in the proximal limbs and axial skeleton. Given the possibility of a hematologic lymphoproliferative disorder, a bone marrow biopsy was recommended. On September 12th, 2024, the patient underwent a bone marrow biopsy for evaluations of cell morphology, initial lymphoma immunophenotyping, cytogenetic analysis, and lymphoma-related FISH testing. Flow cytometry, cytogenetic analysis, and FISH results on September 14th, 2024, were unremarkable, manual microscopy of bone marrow morphological evaluation revealed a small population of poorly differentiated lymphocytes; additionally, AI-assisted automated cell scan identified a subset of abnormal cells suspected to be ′Gaucher cells′. Bone marrow pathology indicated a histiocytic neoplasm accompanied by stage 2 myelofibrosis (MF), with tumor cells comprising approximately 70% of the nucleated cells in the marrow, suggesting immunohistochemistry for confirmation. On October 16th, immunohistochemical analysis confirmed the presence of a histiocytic proliferative disorder suspecting Gaucher disease. After admission, the patient initiated enzyme replacement therapy, receiving an initial intravenous dose of 60 U/kg in a weekly basis. On October 31st, 2024, based on enzyme activity assays, genetic testing, and other results, adult Gaucher disease was finally diagnosed. The patient was scheduled for follow-up with stable vital signs, and reduced size of the spleen compared with previous assessments.