Menon Ramshekhar N, Sanghani Nirav, Javali Mahendra, Jain Neeraj, Shah Arun B
Department of Neurology, BYL Nair Ch. Hospital and TN Medical College, Mumbai Central, Mumbai - 400008, Maharashtra, India.
Ann Indian Acad Neurol. 2009 Jan;12(1):40-4. doi: 10.4103/0972-2327.48852.
We report an unusual case of sporadic adult onset cerebellar ataxia with hypogonadism. A 40-year-old unmarried man presented with progressive ataxia and dysarthria along with complaints of non-development of secondary sexual characteristics and erectile dysfunction. There were complaints of intermittent diarrhea. Clinical examination revealed a pan-cerebellar syndrome with features of hypoandrogenism. No eye movement abnormalities were evident. There were signs of malabsorption. Investigations confirmed the presence of auto-antibodies found in celiac disease, and a duodenal biopsy confirmed the same. Hypoandrogenism was postulated to be due to hypergonadotropic hypogonadism which has been mentioned in a few patients of celiac disease. However, the pattern seen in our patient was of a hypogonadotropic hypogonadism. This is probably secondary to an autoimmune hypophysitis seen in some patients in the absence of other clinical manifestations. Autoantibody testing should be a diagnostic necessity in any adult with a sporadic cerebellar ataxia.
我们报告了一例罕见的散发性成人起病的小脑共济失调合并性腺功能减退病例。一名40岁未婚男性,出现进行性共济失调和构音障碍,伴有第二性征未发育及勃起功能障碍的主诉。还有间歇性腹泻的症状。临床检查发现全小脑综合征伴有雄激素缺乏的特征。未发现明显的眼球运动异常。有吸收不良的体征。检查证实存在乳糜泻中发现的自身抗体,十二指肠活检也证实了这一点。性腺功能减退被推测是由于高促性腺激素性性腺功能减退,这在少数乳糜泻患者中已有提及。然而,我们患者的表现为低促性腺激素性性腺功能减退。这可能继发于一些患者在无其他临床表现时出现的自身免疫性垂体炎。对于任何患有散发性小脑共济失调的成年人,自身抗体检测都应作为诊断的必要手段。