Levine S, Solis-Cohen L
American Journal of Roentgenology and Radium Therapy
The authors described two cases of Gaucher's disease, a familial, congenital condition found mostly in females, and characterized by gradual splenohepatomegaly and prominent bony roentgenologic changes. Gaucher's disease is one of the primary xanthomatoses, marked by foam cells filled with the cerebroside, kerasin. The other primary xanthomatoses include Niemann-Pick's disease, Hand-Schuller-Christian disease, and primary non-symptomatic internal and external xanthomatosis. There are also secondary xanthomatoses, seen as complications of diabetes insipidus and hepatic disease. Thrombocytopenia, leading to hemorrhagic diathesis, is a late complication of Gaucher's disease and necessitates splenectomy.
Case one was a 29 year old, white female who, one month prior, had fractured her left humerus. She presented with no symptomotolgy. Personal and family history, and physical exam were unremarkable. No diagnosis could be made from laboratory studies, so a bone biopsy was done. This revealed "a number of large, polygonal cells having an alveolar arrangement ... prominent, irregularly shaped nuclei ... cytoplasm is acidophilic and is stippled in appearance ... bone marrow contains ... very few megakaryocytes ... cells are dull hyalin and homogenous in appearance ... Diagnosis: The large cells described above are Gaucher cells." Also seen were symmetrical, osteolytic changes in the humeri, as well as in the right tibia, right radius, left femur, hands and skull. An Erlenmeyer flask appearance was absent from the lower ends of the femora. The mandible revealed osteoporosis and lipoid deposits in the region of the lower bicuspid teeth.
Case two, from the Pediatric Service of Jewish Hospital in Philadelphia and originally diagnosed as osteomyelitis, was diagnosed as Gaucher's disease based on the typical Erlenmeyer flask deformity of the lower ends of both femora. Bone pain led to operations for osteomyelitis; however, it was felt that the pain was really due to lipoid deposits in the medullary canals and the bone marrow.
In the first case, in contrast to previous findings, definite penetration by the Gaucher cells into the subperiosteal space was seen, occuring symetrically in both humeri. Another interesting finding was the characteristic appearance of the mandible which, when noted on a roentgenogram, should suggest the possibility of Gaucher's disease. In the second case, operative exploration of the tibia and femur for "bone crisis" resulted in intractable osteomyelitis, and it is well to remember that Gaucher's bone crises contraindicate surgical exploration.
From these cases the author concluded that: 1. penetration into the subperiosteal space can occur in Gaucher's disease, and 2. generalized vacuolation and osteoporosis of the mandible are characteristic of Gaucher's disease.