Photoclinic Diagnosis: Gaucher Disease

A42- year-old gentleman was referred by a hematologist to liver clinic for possible chronic liver disease. The major findings were pancytopenia and a huge splenomegaly. He mainly complained of fatigue, bone pain, and abdominal fullness in last six months. His past medical history was positive for sudden weight loss in early childhood and avascular necrosis of femoral head in late childhood. Physical examination revealed huge splenomegaly, hepatomegaly (span = 20 cm), and decreased range of motion of both hip joints. Positive laboratory data were mild normochromic, normocytic anemia, leukopenia, and thrombocytopenia. Liver function tests were normal and viral markers were negative. In ultrasonography, patency of portal, splenic, and hepatic veins were reported. Esophageal varices were not seen in upper endoscopy.