Child's Nervous System ( IF 1.3 ) Pub Date : 2023-09-09 , DOI: 10.1007/s00381-023-06150-5
Eda Beykoz Cetin 1 , Meltem Necibe Ceyhan Bilgici 2 , Gökcen Oz Tuncer 3 , Irem Sari Karabag 4 , Seren Aydin 3
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The syndrome of megalencephaly, mega corpus callosum (MEG-MegaCC) accompanied by complete lack of motor development is a rare condition with only few sporadic cases having been reported in the literature. In this paper, we describe a child from non-consanguineous parents presenting with MegaCC, psychomotor retardation, and language impairment linked to MEG-MegaCC syndrome. Genetic analysis, radiological findings, and detailed neurological phenotype of MEG-MegaCC syndrome with its overlapping syndromes would allow for a better classification of the disease spectrum.
中文翻译：
巨脑畸形、巨大胼胝体和完全缺乏运动发育综合征：一个不寻常的病例和文献综述
伴有完全缺乏运动发育的巨脑畸形、巨大胼胝体综合征（MEG-MegaCC）是一种罕见的疾病，文献中仅报道了少数散发病例。在本文中，我们描述了一名非近亲父母的儿童，该儿童患有与 MEG-MegaCC 综合征相关的 MegaCC、精神运动迟缓和语言障碍。 MEG-MegaCC 综合征及其重叠综合征的遗传分析、放射学发现和详细的神经表型将有助于更好地对疾病谱进行分类。
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