Bone crisis of Gaucher's disease due to bone ischemia: A case report

✍ Scribed by Anne Davidson; Victor Kalff; Dr Peter F. J. Ryan

• Publisher: John Wiley and Sons
• Year: 1985
• Tongue: English
• Weight: 414 KB
• Volume: 28
• Category: Article
• ISSN: 0004-3591
• DOI: 10.1002/art.1780280219

✦ Synopsis

Adult-onset, or type 1, Gaucher's disease is an autosomal disorder, characterized by deficiency of a lysosomal enzyme, p-glucocerebrosidase. This results in the accumulation of a glycolipid, glucosylceramide, in distinctive "foam" cells which are seen in the bone marrow, reticuloendothelial tissue, and other organs (1). Infiltration of the bone marrow with resulting bone resorption and destruction has been well described previously (2,3); however, the pathogenesis of bone crisis in this disease still remains a subject of conjecture. The use of bone scanning may aid in elucidating this problem. We present a case of bone crisis in Gaucher's disease involving the pelvis, in which an extensive cold area became hot on serial bone scanning, suggesting that the lesion was due to ischemia. We also comment on the possible mechanism of this complication.

Case report. A previously well, 19-year-old white man was found to have Gaucher's disease when his bone marrow was examined in August 1981 following presentation with recurrent epistaxis and thrombocytopenia. Leukocyte p-glucocerebrosidase levels were less than 10% of normal, and screening of the family resulted in the diagnosis of Gaucher's disease in an asymptomatic brother aged 2 1.

Because of persistent thrombocytopenia (plate-