Koskinen T, Pihko H, Voutilainen R
Department of Child Neurology, Children's Hospital, University of Helsinki, Finland.
Neuropediatrics. 1995 Oct;26(5):263-6. doi: 10.1055/s-2007-979769.
We recently described an infantile onset spinocerebellar ataxia (IOSCA) in 19 Finnish patients. The classification of hereditary ataxias of unknown etiology is difficult because of the heterogeneity of these diseases. The clinical course of IOSCA is homogeneous. Ataxia, muscle hypotonia, athetosis, and loss of deep tendon reflexes in the legs appeared around the age of 1 year. Ophthalmoplegia and deafness were found by school-age, and sensory axonal neuropathy and optic atrophy by adolescence. An acute crisis with epilepsy was a late manifestation. The female patients had hypogonadism. In order to define the type of hypogonadism and to exclude other endocrine defects we measured serum concentrations of SHBG, DHEAS, prolactine, testosterone/estradiol, FSH and LH in postpubertal patients. ACTH, hCG and GnRH tests were performed to both pre- and postpubertal patients. Growth was analysed, and the brain and pituitary region were examined with magnetic resonance imaging (MRI). The estradiol values were low and FSH and LH values were high in the female patients, which indicates that the hypogonadism was of the hypergonadotropic type. The growth of the female patients was steady without a significant pubertal growth acceleration. The growth and pubertal development of the male patients were normal. The adrenal cortical and thyroidea functions were normal in all patients.
我们最近描述了19例芬兰患者的婴儿期起病的脊髓小脑共济失调（IOSCA）。由于这些疾病的异质性，病因不明的遗传性共济失调的分类很困难。IOSCA的临床病程具有同质性。共济失调、肌张力减退、手足徐动症以及腿部深腱反射消失在1岁左右出现。学龄期发现眼肌麻痹和耳聋，青春期发现感觉轴索性神经病和视神经萎缩。癫痫急性发作是晚期表现。女性患者有性腺功能减退。为了确定性腺功能减退的类型并排除其他内分泌缺陷，我们测量了青春期后患者血清中SHBG、硫酸脱氢表雄酮、催乳素、睾酮/雌二醇、促卵泡激素和促黄体生成素的浓度。对青春期前和青春期后的患者都进行了促肾上腺皮质激素、人绒毛膜促性腺激素和促性腺激素释放激素试验。分析了生长情况，并通过磁共振成像（MRI）检查了脑和垂体区域。女性患者雌二醇值低，促卵泡激素和促黄体生成素值高，这表明性腺功能减退是高促性腺激素型。女性患者生长稳定，青春期无明显生长加速。男性患者的生长和青春期发育正常。所有患者的肾上腺皮质和甲状腺功能均正常。
