Bir Gaucher Vak'ası

This case report describes a 12-year-old boy diagnosed with Gaucher’s disease, a lipid storage disorder involving the accumulation of cerebroside (kerasin) within cells of the reticuloendothelial system (R.E.S.)—primarily in the spleen, liver, bone marrow, and lymph nodes. The patient presented with abdominal distension, left upper quadrant pain, and recurrent epistaxis. Examination revealed massive splenomegaly, mild hepatomegaly, and signs of hypersplenism. Initial evaluations led to a misdiagnosis of early cirrhosis and splenic enlargement secondary to malaria. Upon re-admission, the patient underwent splenectomy, revealing a spleen five times the normal size. Histopathology identified large R.E.S. cells with brick-red staining cytoplasm and loss of lymphoid follicles, consistent with Gaucher cells. Liver biopsy showed similar cells with vacuolization, confirming systemic involvement. Postoperative progress was favorable—epistaxis ceased, blood counts normalized, and bone marrow biopsy confirmed Gaucher cells with characteristic cytoplasmic striation. The authors emphasize the disease’s deceptive presentation and the importance of considering Gaucher’s disease in cases of unexplained splenomegaly, anemia, or bone pain. Differential diagnosis includes Niemann-Pick and Hand-Schüller-Christian disease; however, Gaucher’s is distinguished by cerebroside accumulation and R.E.S. infiltration. The discussion explores histological features, skeletal manifestations, and therapeutic outcomes. Treatment involves splenectomy for symptomatic relief, though bone involvement may persist.