Bosemani Thangamadhan, Zanni Ginevra, Hartman Adam L, Cohen Rony, Huisman Thierry A G M, Bertini Enrico, Poretti Andrea
Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland, United States.
Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Research Hospital, Rome, Italy.
Neuropediatrics. 2014 Aug;45(4):247-51. doi: 10.1055/s-0033-1363091. Epub 2013 Nov 27.
Christianson syndrome (CS) is caused by mutations in SLC9A6 and is characterized by severe intellectual disability, absent speech, microcephaly, ataxia, seizures, and behavioral abnormalities. The clinical phenotypes of CS and Angelman syndrome (AS) are similar. Differentiation between CS and AS is important in terms of genetic counseling. We report on two children with CS and confirmed mutations in SLC9A6 focusing on neuroimaging findings and review the available literature. Cerebellar atrophy (CA) occurs in approximately 60% of the patients with CS and develops after the age of 12 months. Hyperintense signal of the cerebellar cortex (CbC) is less common, and may be diffuse, patchy, or involve only the inferior part of the cerebellum and is best seen on coronal fluid attenuation inversion recovery images. CA and CbC-hyperintensity are not neuroimaging features of AS. In a child with the phenotype of AS, CA and/or CbC-hyperintensity are rather specific for CS and should prioritize sequencing of SLC9A6.
克里斯蒂安森综合征（CS）由SLC9A6基因突变引起，其特征为严重智力残疾、无语言能力、小头畸形、共济失调、癫痫发作和行为异常。CS和天使综合征（AS）的临床表型相似。在遗传咨询方面，区分CS和AS很重要。我们报告了两名患有CS且SLC9A6基因确诊突变的儿童，重点关注神经影像学检查结果，并回顾现有文献。小脑萎缩（CA）约在60%的CS患者中出现，且在12个月龄后发生。小脑皮质（CbC）高信号较少见，可能呈弥漫性、斑片状，或仅累及小脑下部，在冠状位液体衰减反转恢复图像上最易观察到。CA和CbC高信号不是AS的神经影像学特征。在具有AS表型的儿童中，CA和/或CbC高信号对CS具有较高特异性，应优先对SLC9A6进行测序。
