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首页> 外文期刊>The Canadian Journal of Neurological Sciences: le Journal Canadien des Sciences Neurologiques >Isolated Unilateral Cerebellar Hemispheric Dysplasia: A Rare Entity
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Isolated Unilateral Cerebellar Hemispheric Dysplasia: A Rare Entity

机译：孤立的单侧小脑半球发育不良：罕见的实体

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A 9-year-old female presented to neurology outpatient department of our hospital with complaints of recurrent generalized tonic–clonic seizures since birth and was being treated with anticonvulsants for the same. Patient also had complaints of giddiness and episodes of momentary loss of consciousness. There was history of twitching of left hemiface and eyelid during infancy, often associated with deviation of eyes to the left and groaning. The birth history was unremarkable. Family history revealed no known consanguinity. General examination revealed no dysmorphic features. Neurological examination revealed no cognitive deficits/signs to suggest cerebellar pathology. An electroencephalogram was done in view of her recurrent seizures, which was normal. Initial laboratory work-up was normal. The patient then underwent magnetic resonance imaging (MRI) brain, acquired with a 1.5-T unit (Siemens, Erlangen, Germany). MRI brain revealed hemihypertrophy of left cerebellar hemisphere with disorganized architecture, fissural malorientation with individual folia running vertically rather than horizontally with disorganized foliation, abnormal arborization of white matter predominantly involving mid and dorsal surface of left cerebellar hemisphere and a few suspicious areas of abnormal T2-hyperintense signal in subcortical white matter. Right cerebellar hemisphere and cerebellar vermis were normal. Corpus callosum was normal. Cerebral parenchyma was normal in signal intensity pattern with normal gray–white matter differentiation. Ventricular system was normal (Figures 1 and 2). Cerebellar malformations are uncommon and are usually associated with Dandy–Walker continuum, Joubert syndrome, rhombencephalosynapsis, lissencephaly, Fukuyama congenital muscular dystrophy, Walker–Warburg syndrome, muscle–eye–brain disease, congenital cytomegalovirus infection to name a few.1,2 Isolated unilateral cerebellar hemispheric dysplasia is exceedingly rare with only a few cases previously described in English literature. Cerebellar malformations are less adequately understood entity partly because of the complex cerebellar embryology and limited histologic studies of these disorders. Genes expressed in migration and maintenance of the Purkinje cells and/or in the generation and migration of granular cells when mutated will disrupt cerebellar migration and foliation and thus cause cerebellar malformation.3–5 Cerebellum is known to be a centre for motor learning, coordination, and higher cognitive functions. Clinical presentation of cerebellar malformations is highly variable and depends on the degree of cerebellar involvement, presence of associated cerebral involvement and the underlying disorders such as muscular dystrophy if any. Patel and Barkovich suggested an imaging-based classification of cerebellar malformations and classified the malformations broadly into two types, malformations with cerebellar hypoplasia and the ones with cerebellar dysplasia. Each of these was further classified into focal and diffuse.1 Demaerel gave a classification of abnormalities of cerebellar foliation and fissuration.2 Our index case with disorganized architecture, fissural malorientation and disorganized foliation of left cerebellar hemisphere associated with normal cerebellar vermis, corpus callosum, and absence of cerebral malformation falls into Type 2 category as per the classification by Demaerel.2 Treatment depends upon the severity of symptoms and the underlying disorder in case of syndromic malformations. Generally, treatment is symptomatic and supportive. Understanding of the basics of cerebellar embryology, knowledge of the imaging features, and clinical presentation aids in the precise diagnosis of this disorder and its optimal management.
机译：一名9岁女性向我们医院的神经内科门诊部展示，自出生以来，患有反复出现的滋补克隆癫痫发作，并被抗惊厥药治疗。患者也有眩晕和瞬间丧失意识的剧集抱怨。在婴儿期间有左血管和眼睑抽搐的历史，通常与眼睛偏离左侧和呻吟有关。出生历史不起眼。家庭历史显示没有已知的血缘关系。一般检查没有疑惑特征。神经学检查显示没有认知缺陷/迹象表明小脑病理学。考虑到她的经常性癫痫发作，脑电图是正常的。初始实验室工作正常。然后患者接受磁共振成像（MRI）脑，用1.5吨单位（西门子，erlangen，德国）获得。 MRI大脑揭示了左脑半球的左脑斑块与闭塞式架构，裂隙恶性，垂直术，而不是水平的叶子，白物质的异常涉及左脑半球的中外表面和异常的少数可疑地区 - 皮质下白色物质中的超敏信号。右脑半球和小脑蚓部正常。胼callosom是正常的。脑实质在信号强度模式中正常，具有正常的灰白色物质分化。心室系统正常（图1和2）。小脑畸形是罕见的，通常与Dandy-Walker连续统一体，joubert综合征，菱形腹期花，欲望氏症，福山先天性肌营养不良症，Walker-warburg综合征，肌肉眼脑病，先天性巨细胞病毒感染，名称为几十个单侧小脑半球发育不良非常罕见，只有在英语文学中描述的少数案例。由于这些疾病的复杂的小脑胚胎和有限的组织学研究，小脑畸形不太适当地理解实体。在突变时迁移和维持迁移和维持的基因和/或在粒状细胞的产生和迁移时，当突变时会破坏小脑迁移和叶，因此引起小脑畸形.3-5众所周知，脑内畸形是电机学习的中心，协调和更高的认知功能。小脑畸形的临床表现是高度可变的，取决于小脑受累的程度，相关脑梗死的存在和肌肉营养不良的潜在疾病（如果有的话）。 Patel和Barkovich提出了基于成像的小脑畸形分类，并将畸形分为两种类型，与小脑发育不全的畸形和具有小脑发育不良的畸形。这些中的每一个进一步分为焦点和弥漫性.1 demaerel对细胞叶和裂缝的异常进行了分类。与左脑半球的混乱建筑，裂雾状和紊乱叶子与正常小脑禁虫，胼um，corpus胼um，由于黛米勒的分类，并且脑畸形的缺失落入2型类别中。治疗取决于患者畸形的症状的严重程度和潜在疾病的严重性。通常，治疗是对症和支持性的。了解小脑胚胎学的基础知识，对成像特征的知识，以及临床介绍在这种疾病的精确诊断及其最佳管理中。

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