Congenital familial imaging diagnosis of Gaucher disease experience.doc

 PAGE \* MERGEFORMAT 7 Congenital familial imaging diagnosis of Gaucher disease experience Gaucher disease is a congenital familial metabolic disorders, clinical rare, more common in children and adolescents. Domestic rarely reported, but also because of its complex clinical manifestations involving the skeletal system and changing the X-ray findings, often not clinical and radiologist’s attention and misdiagnosed. Now in our hospital confirmed by bone marrow smears of two cases as follows: 1 Case Summary Case 1: Male 28 years old, brother, family, short stature, limb and back pain, repeated episodes of more than ten years, staggering gait Examination: He slightly brown skin, eyes and conjunctival plaques, hepatosplenomegaly, liver at ribs 5 cm, neck and groin lymph nodes palpable. imaging: thoracic and significant osteoporosis, wedge-shaped chest 6,7 obvious cone deformation, the right femoral head becomes flat, collapsed, uneven density, bone irregular articular surface sclerosis, joint space narrowing slightly. bilateral distal femur symmetry enlargement was “flask-like” appearance, thinning of cortical bone, bone marrow cavity ill-defined, replaced by cable strip the density of bone sclerosis and irregular reduce the area, no periosteal reaction around the bone disease. tibia bone sclerosis, and see the search bar to reduce the area of #8203;#8203;irregular density. blood cytology report: bone marrow hyperplasia, the entire film can be seen 85 Gaucher cells. Case 2: Female, 22 years old, the family his sister, 10-year-old patients with liver and spleen laboratory tests: blood and platelet counts in the normal range imaging: Bilateral femoral head becomes flat, collapse, cystic destruction of the visible, density is uneven, the left femoral head shows patchy high density shadow, no significant joint space narrow, two-distal femur were flask-shaped enlargement of the symmetry. blood cytology report: bone marrow hyperplasia, showing multiple G