Sabadini L, Gonnelli L, Anichini C, Funtò I, Marcolongo R, Dotti M G, Federico A
Istituto di Reumatologia, Università, Siena.
Recenti Prog Med. 1996 Mar;87(3):110-3.
We describe a patient with cerebrotendinous xanthomatosis (CTX) who saw a Rheumatologist because of joint and muscle pain in the lower limbs. Clinical examination did not reveal any classic joint disease; however, tendon lesions and clumsy gait were noted. The patient presented with a swollen Achilles tendon bilaterally and a parapareto-spastic gait; Babinski sign was positive on the right side, and hyperreflexia of both lower limbs could be demonstrated. As bilateral cataracts were present, we have interpreted the aforementioned signs as CTX with spinal involvement; mean plasma cholesterol was increased, thus confirming the diagnosis. The primary biochemical abnormality of this disease is a defect in the synthesis of bile acids; therefore, chenodeoxycholic acid (CDCA) has been tried, and beneficial effects following CDCA treatment, especially in the early stages of CTX, have been reported in the literature. We report this case because of the severity and the rarity of this disease, and also because of its hereditary transmission. Our aim is to underline the need of a precocious diagnosis, in order to prevent a further progression of the disease; this therapeutic goal can now be achieved, thanks to the therapeutic regimens recently developed.
我们描述了一名患有脑腱黄瘤病（CTX）的患者，该患者因下肢关节和肌肉疼痛而就诊于风湿病科医生。临床检查未发现任何典型的关节疾病；然而，发现了肌腱病变和步态笨拙。患者双侧跟腱肿胀，呈双侧痉挛性轻截瘫步态；右侧巴氏征阳性，双侧下肢腱反射亢进。由于存在双侧白内障，我们将上述体征解释为伴有脊髓受累的CTX；平均血浆胆固醇升高，从而确诊。该疾病的主要生化异常是胆汁酸合成缺陷；因此，已试用鹅去氧胆酸（CDCA），并且文献报道了CDCA治疗后的有益效果，尤其是在CTX的早期阶段。我们报告此病例是因为该疾病的严重性和罕见性，以及其遗传传播方式。我们的目的是强调早期诊断的必要性，以防止疾病进一步发展；由于最近开发的治疗方案，现在可以实现这一治疗目标。
