Hemiconvulsion–hemiplegia–epilepsy (HHE) syndrome is a rare syndrome characterized by childhood onset partial motor convulsions, hemiplegia, and epilepsy in sequence. We presented a girl with global developmental delay with history and brain MRI consistent with the diagnosis of HHE syndrome. The cytogenetic microarray (CMA) showed 9.1 Mb deletion in 5q33.3q34 region. Along with HHE syndrome, the patient also had global developmental delay. Clinical phenotype of this microdeletion region has not been described in association with HHE syndrome in the literature. We compared the patient's phenotype with other patients in previously published papers of a common region of deletion spanning 157501989–164166203. GABRA1, GABRB2, GABRG2, CYFIP2, and THG1 are the important genes in the present deleted region, which may be responsible for the fever sensitivity and global developmental delay. This is the first case of HHE syndrome in which CMA showed a microdeletion of 5q33.3q34 region. This case report links HHE syndrome and global developmental delay to microdeletion of 5q33.3q34, which has never been reported in literature. The cause of HHE syndrome remains unexplained in present case and HHE may be a causal or chance co-occurrence.

中文翻译：

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半惊厥-偏瘫-癫痫综合征伴 5q33.3q34 微缺失：因果或偶然关联

Hemiconvul​​sion-hemiplegia-epilepsy (HHE) 综合征是一种罕见的综合征，以儿童期发病的部分运动性惊厥、偏瘫和癫痫为特征。我们介绍了一名全身发育迟缓的女孩，其病史和脑部 MRI 与 HHE 综合征的诊断一致。细胞遗传学微阵列 (CMA) 显示 5q33.3q34 区域有 9.1 Mb 缺失。除了 HHE 综合征，该患者还存在整体发育迟缓。该微缺失区域的临床表型未在文献中描述与 HHE 综合征相关。我们将患者的表型与先前发表的关于跨越 157501989-164166203 的共同缺失区域的论文中的其他患者进行了比较。GABRA1、GABRB2、GABRG2、CYFIP2和THG1是目前缺失区的重要基因，这可能是导致发烧敏感性和整体发育迟缓的原因。这是首例 CMA 显示 5q33.3q34 区域微缺失的 HHE 综合征病例。该病例报告将 HHE 综合征和全球发育迟缓与 5q33.3q34 的微缺失联系起来，这在文献中从未报道过。在本例中，HHE 综合征的原因仍未得到解释，HHE 可能是因果或偶然的共同发生。