Pehlke J R, Venkataramani V, Emmert S, Mohr A, Zoll B, Nau R
Abt. für Suchtkrankheiten, LWL-Klinik Münster.
Fortschr Neurol Psychiatr. 2013 Jan;81(1):40-3. doi: 10.1055/s-0032-1330280. Epub 2013 Jan 22.
X-Linked ichthyosis (XRI) is a keratinisation disorder caused by a mutation of the steroid sulfatase gene. An association with mental retardation and epilepsy has been reported earlier. Here, we report on a patient suffering from cerebellar symptoms such as yes/yes head tremor, scanning dysarthria, pronounced dysmetria and intention tremor, without any abnormalities of the cerebellum in MRI, in addition to XRI proven by molecular genetics. Furthermore, the patient suffered from anxiety disorder, depression, and a male pattern baldness. One of the patient' s brothers and a nephew showed a similar clinical presentation. Because of the fact that several members of the patient's family suffered from similar symptoms, we consider a syndromic link between XRI and cerebellar disorder to be possible.
X连锁鱼鳞病（XRI）是一种由类固醇硫酸酯酶基因突变引起的角化障碍。此前已有报道称其与智力迟钝和癫痫有关。在此，我们报告一名除了经分子遗传学证实患有XRI外，还出现小脑症状，如点头样头部震颤、断续性构音障碍、明显的辨距不良和意向性震颤，但MRI显示小脑无任何异常的患者。此外，该患者还患有焦虑症、抑郁症和男性型秃发。患者的一个兄弟和一个侄子表现出相似的临床表现。由于患者家族中的几名成员有类似症状，我们认为XRI与小脑疾病之间可能存在综合征性关联。
