Division of Neuroradiology, Department of Radiology, Children's Hospital of Philadelphia, 3401 Civic Center Blvd., Philadelphia, PA, 19104, USA.
Neuroradiology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Pediatr Radiol. 2020 Sep;50(10):1448-1475. doi: 10.1007/s00247-020-04716-y. Epub 2020 Jul 8.
This article is the second of a two-part series on intracranial calcification in childhood. In Part 1, the authors discussed the main differences between physiological and pathological intracranial calcification. They also outlined histological intracranial calcification characteristics and how these can be detected across different neuroimaging modalities. Part 1 emphasized the importance of age at presentation and intracranial calcification location and proposed a comprehensive neuroimaging approach toward the differential diagnosis of the causes of intracranial calcification. Pathological intracranial calcification can be divided into infectious, congenital, endocrine/metabolic, vascular, and neoplastic. In Part 2, the chief focus is on discussing endocrine/metabolic, vascular, and neoplastic intracranial calcification etiologies of intracranial calcification. Endocrine/metabolic diseases causing intracranial calcification are mainly from parathyroid and thyroid dysfunction and inborn errors of metabolism, such as mitochondrial disorders (MELAS, or mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes; Kearns-Sayre; and Cockayne syndromes), interferonopathies (Aicardi-Goutières syndrome), and lysosomal disorders (Krabbe disease). Specific noninfectious causes of intracranial calcification that mimic TORCH (toxoplasmosis, other [syphilis, varicella-zoster, parvovirus B19], rubella, cytomegalovirus, and herpes) infections are known as pseudo-TORCH. Cavernous malformations, arteriovenous malformations, arteriovenous fistulas, and chronic venous hypertension are also known causes of intracranial calcification. Other vascular-related causes of intracranial calcification include early atherosclerosis presentation (children with risk factors such as hyperhomocysteinemia, familial hypercholesterolemia, and others), healed hematoma, radiotherapy treatment, old infarct, and disorders of the microvasculature such as COL4A1- and COL4A2-related diseases. Intracranial calcification is also seen in several pediatric brain tumors. Clinical and familial information such as age at presentation, maternal exposure to teratogens including viruses, and association with chromosomal abnormalities, pathogenic genes, and postnatal infections facilitates narrowing the differential diagnosis of the multiple causes of intracranial calcification.
这是关于儿童颅内钙化的两部分系列文章中的第二部分。在第一部分中,作者讨论了生理性和病理性颅内钙化之间的主要区别。他们还概述了颅内钙化的组织学特征以及如何在不同的神经影像学模式下检测到这些特征。第一部分强调了发病时的年龄和颅内钙化位置的重要性,并提出了一种全面的神经影像学方法来对颅内钙化的原因进行鉴别诊断。病理性颅内钙化可分为感染性、先天性、内分泌/代谢性、血管性和肿瘤性。在第二部分中,主要重点讨论内分泌/代谢性、血管性和肿瘤性颅内钙化的病因。引起颅内钙化的内分泌/代谢性疾病主要来自甲状旁腺和甲状腺功能障碍以及先天性代谢紊乱,如线粒体疾病(MELAS,或线粒体肌病、脑病、乳酸酸中毒和卒中样发作;Kearns-Sayre;和 Cockayne 综合征)、干扰素病(Aicardi-Goutières 综合征)和溶酶体贮积症(Krabbe 病)。已知一些非感染性颅内钙化的特定病因可模仿 TORCH(弓形虫病、其他[梅毒、水痘-带状疱疹、细小病毒 B19]、风疹、巨细胞病毒和单纯疱疹)感染,称为假 TORCH。海绵状血管畸形、动静脉畸形、动静脉瘘和慢性静脉高压也是颅内钙化的已知病因。其他与血管相关的颅内钙化病因包括早期动脉粥样硬化表现(有高同型半胱氨酸血症、家族性高胆固醇血症等危险因素的儿童)、愈合血肿、放射治疗、陈旧性梗死和微血管疾病,如 COL4A1-和 COL4A2 相关疾病。颅内钙化也可见于几种儿科脑肿瘤中。发病时的年龄、母体暴露于致畸剂(包括病毒)以及与染色体异常、致病性基因和产后感染的关联等临床和家族信息有助于缩小颅内钙化多种病因的鉴别诊断范围。