Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome
The Cerebellum(2024)
摘要
KBG syndrome is a rare genetic disorder caused by heterozygous pathogenic variants in ANKRD11 . Affected individuals have developmental delay, short stature, characteristic facial features, and other dysmorphic findings. To date, a spectrum of unspecific neuroradiological defects has been reported in KBG patients, such as cortical defects, white matter abnormalities, corpus callosum, and cerebellar vermis hypoplasia. Deep clinical and neuroradiological phenotyping and genotype of a patient presenting with mild cognitive and behavioral problems were obtained after written informed consent. We herein describe the first KBG patient presenting with cerebellar heterotopia, a heterogeneous malformation characterized by the presence of clusters of neurons within the white matter of cerebellar hemispheres. This novel association broadens the neuroradiological spectrum of KBG syndrome, and further prompts to investigate the potential functions of ANKRD11 in cerebellar development.
更多查看译文
关键词
Cerebellar heterotopia,Cerebral malformation,KBG syndrome,Neuropsychiatric disorder
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要