Sakae N, Taniwaki T, Arakawa K, Yamada T, Kira J
Department of Neurology, Faculty of Medicine, Kyusyu University.
Rinsho Shinkeigaku. 2000 Mar;40(3):222-6.
A 63-years-old woman noticed unsteady gait at the age of 56 years and then developed dysarthria two years later. A general physical examination at age 56 revealed mild hypertrophy of both Achilles tendons. On neurological examination, she had scanning speech, moderate limb and truncal ataxia, and moderate hyperreflexia of all limbs. A soft tissue X-ray examination disclosed hypertrophy of both Achilles tendons with multiple punctate calcification. Brain MRI showed diffuse cerebellar atrophy. Motor evoked potentials in the right limb disclosed a prolonged central conduction time. Blood chemistry showed familial type IIa hypercholesterolemia (cholesterol 320 mg/dl, and LDL-cholesterol 245 mg/dl), yet cholestanol level was normal. A examination of CTX gene mutation at hot spots revealed no mutation. Her mother and two siblings also had hypertrophy of Achilles tendons as well as type IIa hypercholesterolemia. In addition, the one sibling showed mild ataxia of lower limbs, respectively. This report suggests a possible link between familial type IIa hypercholesterolemia and cerebellar degeneration syndrome clinically mimicking CTX.
一名63岁女性在56岁时出现步态不稳，两年后出现构音障碍。56岁时的全身体格检查发现双侧跟腱轻度肥厚。神经系统检查时，她存在吟诗样言语、中度肢体和躯干共济失调以及四肢中度反射亢进。软组织X线检查显示双侧跟腱肥厚并伴有多处点状钙化。脑部MRI显示弥漫性小脑萎缩。右侧肢体的运动诱发电位显示中枢传导时间延长。血液生化检查显示家族性IIa型高胆固醇血症（胆固醇320mg/dl，低密度脂蛋白胆固醇245mg/dl），但胆甾烷醇水平正常。对热点区域的CTX基因突变检测未发现突变。她的母亲和两个兄弟姐妹也有跟腱肥厚以及IIa型高胆固醇血症。此外，其中一个兄弟姐妹还分别出现了轻度下肢共济失调。本报告提示家族性IIa型高胆固醇血症与临床酷似CTX的小脑变性综合征之间可能存在关联。
