Neau D, Mercier P, Bouabdallah K, Vital J M, Fialon P, Longy-Boursier M, Le Bras M
Clinique Médicale Propédeutique et Médecine Tropicale, Hôpital Saint-André, Bordeaux.
Rev Med Interne. 1993 Apr;14(4):260-2. doi: 10.1016/s0248-8663(05)82494-4.
Gaucher's disease is a sphingolipidosis transmitted as an autosomal trait. Bone lesions are frequent in type 1 of the disease (i.e. the adult type without neurological manifestation). We report the case of a 70-year old woman suffering from spinal lesions with vertebral collapse and spinal cord compression. Our diagnosis was based on the finding in bone samples of Gaucher cells looking like large macrophages, and on the enzymatic assay of glucocerebrosidase. New treatments, such as replacement of the deficient enzyme by placental glucocerebrosidase, are currently being evaluated.
戈谢病是一种作为常染色体性状传递的鞘脂沉积症。在该疾病的1型（即无神经表现的成人型）中，骨病变很常见。我们报告了一例70岁女性患者，其患有伴有椎体塌陷和脊髓压迫的脊柱病变。我们的诊断基于在骨样本中发现看起来像大巨噬细胞的戈谢细胞，以及对葡糖脑苷脂酶的酶活性测定。目前正在评估新的治疗方法，如用胎盘葡糖脑苷脂酶替代缺陷酶。
