Hidalgo-Sanz J, Perez-Delgado R, Garcia-Jimenez I, Lopez-Pison J, Castillo-Castejon O, Poch M L, Izquierdo-Alvarez S
HUMS. Hospital Universitario Miguel Servet, 50009 Zaragoza, Espana.
HUMS. Hospital Universitario Miguel Servet, Zaragoza, Espana.
Rev Neurol. 2019 Oct 1;69(7):289-292. doi: 10.33588/rn.6907.2019166.
Intracranial calcifications can have a number of different causes, and the distribution and characteristics they present in neuroimaging can orient the specialist towards one or another. It is important to rule out the most frequent entities that are accompanied by intracranial calcifications, but other more remote genetic causes, such as Coats plus syndrome, should not be overlooked.
Ex-premature female Infant with a gestational age of 34 weeks, diagnosed with retinopathy at 9 months after presenting strabismus. At 2 years of age, an MRI scan was performed for right hemiparesis, in which an image suggestive of a neoplasm was initially observed. Upon completion of the study with a cranial computed tomography scan, extensive calcifications were observed predominantly in the basal ganglia along with cystic lesions. After ruling out the most frequent causations of intracranial calcifications, the association between the retinopathy and the neurological features was established, and Coats plus syndrome was confirmed by a genetic study that revealed the presence of two hitherto unreported variants in heterozygosis in the CTC1 gene.
Coats plus syndrome is an extraordinarily rare autosomal recessive disease, caused by mutations in the CTC1 gene, which involves the appearance of retinal telangiectasias, brain cysts, calcifications in deep nuclei and leukoencephalopathy, as well as other bone and gastrointestinal conditions. Treatment is symptomatic and the disease has a poor prognosis.
颅内钙化可能有多种不同原因，其在神经影像学中呈现的分布和特征可引导专家做出不同诊断。排除伴有颅内钙化的最常见病因很重要，但其他更罕见的遗传原因，如科茨加综合征（Coats plus syndrome），也不应被忽视。
一名孕34周的早产女婴，9个月大时出现斜视，被诊断为视网膜病变。2岁时，因右侧偏瘫进行了磁共振成像（MRI）扫描，最初观察到一个提示肿瘤的影像。在完成头颅计算机断层扫描（CT）检查后，发现广泛钙化主要位于基底神经节，同时伴有囊性病变。在排除颅内钙化的最常见病因后，确定了视网膜病变与神经学特征之间的关联，基因研究证实为科茨加综合征，该研究揭示在CTC1基因中存在两个杂合状态的此前未报告的变异。
科茨加综合征是一种极其罕见的常染色体隐性疾病，由CTC1基因突变引起，其表现包括视网膜毛细血管扩张、脑囊肿、深部核团钙化和白质脑病，以及其他骨骼和胃肠道疾病。治疗以对症治疗为主，疾病预后较差。
