Trevisan C P, Pastorello E, Tonello S, Armani M, Rigoni M T, Tormene A P, Freda M P, Zortea M, Lombardi S
Department of Neurological and Psychiatric Sciences, University of Padua, V. Vendramini 7, 35100 Padua, Italy.
Brain Dev. 2001 Mar;23(2):108-14. doi: 10.1016/s0387-7604(01)00187-5.
Cerebellar hypoplasia may, at neuroimaging studies, be found in association with congenital muscular dystrophy (CMD), although it is an extremely rare occurrence. We here report on three CMD patients who underwent a longitudinal evaluation of clinical and neuroimaging features for a mean period of 18 years. Case 1, a 22-year-old woman, and cases 2 and 3, brothers aged 26 and 20 years, respectively, had presented a mild to moderate muscular weakness and increased serum creatine kinase (CK) levels since birth. All cases were diagnosed in the first years of life, with identification of evident dystrophic changes at muscle biopsy and moderate to severe cerebellar hypoplasia at brain computed tomography (CT) scan. Subsequently, all the patients underwent a second muscle biopsy, with immunostaining and immunoblot analysis, which showed normal values for merosin, dystrophin and dystrophin-related proteins. During the longitudinal study, the patients underwent repeated neurological and psychiatric examinations, serum CK controls, intellectual ability assessments and neuroimaging evaluations (CT and/or magnetic resonance imaging (MRI)). In all cases, these investigations indicated a mild to moderate deficit in the proximal muscles and a clear-cut cerebellar syndrome which, it was assumed, had been present since the first years. The patients also presented some intellectual difficulties, with an IQ of 0.69 in case 1, 0.83 in case 2 and 0.61 in case 3. The clinical course of all the patients was static, and all symptoms of the combined muscle and brain involvement persisted. Nor were any changes in the cerebellar hypoplasia observed at repeat MRIs. Findings obtained by us on the longitudinal study and a review of the literature indicate that cerebellar hypoplasia and merosin-positive CMD constitute a particular clinical phenotype, mainly characterized by an ataxic syndrome associated with a non-severe muscular involvement and a possible mild intellectual impairment.
在神经影像学研究中，小脑发育不全可能与先天性肌营养不良（CMD）相关，尽管这种情况极为罕见。我们在此报告3例CMD患者，他们接受了平均为期18年的临床和神经影像学特征的纵向评估。病例1为一名22岁女性，病例2和病例3分别为26岁和20岁的兄弟，自出生以来均表现为轻度至中度肌无力，血清肌酸激酶（CK）水平升高。所有病例均在生命的最初几年被诊断出来，肌肉活检发现明显的营养不良性改变，脑部计算机断层扫描（CT）显示中度至重度小脑发育不全。随后，所有患者均接受了第二次肌肉活检，并进行免疫染色和免疫印迹分析，结果显示肌纤蛋白、抗肌萎缩蛋白和抗肌萎缩蛋白相关蛋白的值均正常。在纵向研究期间，患者接受了多次神经和精神检查、血清CK检测、智力评估以及神经影像学评估（CT和/或磁共振成像（MRI））。在所有病例中，这些检查均表明近端肌肉存在轻度至中度功能缺陷以及明确的小脑综合征，据推测该综合征自最初几年就已存在。患者还存在一些智力问题，病例1的智商为0.69，病例2为0.83，病例3为0.61。所有患者的临床病程均为静止性，肌肉和脑部受累的所有症状均持续存在。在重复的MRI检查中也未观察到小脑发育不全有任何变化。我们通过纵向研究获得的结果以及对文献的回顾表明，小脑发育不全和肌纤蛋白阳性CMD构成一种特殊的临床表型，主要特征为共济失调综合征，伴有非严重的肌肉受累以及可能的轻度智力损害。
