Eklem Hastalıkları ve Cerrahisi Joint Diseases and Related Surgery Case Report / Olgu Sunumu Eklem Hastalık Cerrahisi 2009;20(3):169-173 Intrapelvic mass causing femoral compression neuropathy in a patient with Gaucher disease: a case report Gaucher hastalığında femoral kompresyon nöropatisine neden olan pelvis içi kitle: Olgu sunumu Mehmet Çolak, M.D., 1 Hakan Canbaz, M.D., 2 İrfan Ayan, M.D., 1 Tuba Karabacak, M.D., 3 Fehmi Kuyurtar, M.D., 1 Departments of 1 Orthopaedics and Traumatology, 2 General Surgery, and 3 Pathology, Medicine Faculty of Mersin University, Mersin, Turkey • Received: August 22, 2008 Accepted: January 12, 2009 • Correspondence: Mehmet Çolak, M.D. Mersin Üniversitesi Tıp Fakültesi Ortopedi ve Travmatoloji Anabilim Dalı, 33079, Mersin, Turkey. Tel: +90 324 - 337 43 00 / 1156 Fax: +90 324 - 337 43 05 e-mail: drmcolak@hotmail.com Gaucher hastalığı, glukoserebrositlerin, vücudun her- hangi bir yerinde makrofajların içinde biriktiği lizozo- mal depo hastalığıdır. Anemi, koagülasyon anomalileri ve hepatosplenomegalinin yanı sıra farklı derecede iskelet tutulumu hastalığa eşlik edebilir. Gaucher has- talığında yaşam kalitesini etkileyen faktörler kemik tutulumu ile ilişkilidir. Hastalık kaynaklı Gaucher hücre birikintileri kortikal erozyonlardan kemik dışı- na çıkabilir ve kemiklerin çevresinde yumuşak doku kitleleri oluşturabilir. Bu makalede, sol iliyak kanattan köken alan femoral kompresyon nöropatisine neden olacak kadar büyük bir pelvis içi kitle oluşumu tespit ettiğimiz 38 yaşında kadın olgu sunuldu. Hastalık nöro- lojik tutuluma göre ve eğer nörolojik belirtiler varsa bunların akut veya subakut olmalarına göre sınıflan- dırılmaktadır. Tümör basısı ile ortaya çıkan nörolojik bir bozukluk, hastalık için tanımlanmış olan nörojenik formlardan ayırt edilmelidir. Anahtar sözcükler: Femoral sinir; Gaucher hastalığı; pelvik kitle. Gaucher disease is a lysosomal storage disorder in which glucocerebroside accumulates within the macrophages in any part of the body. Varying degrees of skeletal involve- ment may occur besides anemia, coagulation abnor - malities and hepatosplenomegaly. Most of the factors influencing the quality of life in a patient with Gaucher disease are related to bone involvement. Gaucher cell deposits may extrude through cortical erosions and cause soft tissue masses around bones which are involved by the disease. We present a 38-year-old female patient with Gaucher disease who had a large intrapelvic mass originating from left iliac bone causing femoral compres- sion neuropathy. The classification of disease is based on neurological involvement and if symptoms exist whether the symptoms are acute or subacute. The neurological impairment caused by compression by a tumor should be distinguished from the ones reported in neurogenic forms of the disease. Key words: Femoral nerve; Gaucher disease; pelvic mass. Gaucher disease (GD) is a lysosomal storage disorder. It is caused by an autosomal-recessive inherited deficiency of glucocerebrosidase activ- ity. This deficiency causes accumulation of gluco- cerebroside within the macrophages in any part of the body. Anemia, coagulation abnormalities and hepatosplenomegaly are common patholo- gies in this disease. [1] Hematomas may occur spon- taneously because of these afflictions. [2] Skeletal changes causing disabilities may also occur. [3] Soft tissue masses originating from Gaucher-cell deposits by cortical destruction, an extremely rare condition, may also be observed as a skel- etal manifestation. These masses may mimic malignancies. [4-6] Management of a patient with GD, who has severe skeletal involvement and a giant intrapelvic soft-tissue mass is discussed in this paper.