Intracranial calcifications, microcephaly, and seizure. If not congenital infection, what could it be?

Neurosciences (Riyadh, Saudi Arabia) Pub Date : 2012-07-01
Wafaa Eyaid, Ruqaiah S Al-Tassan, Doha M Al-Nouri
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Abstract

Intracranial calcification has a variety of etiologies; among those are environmental and metabolic disturbances involving calcium homeostasis. The main environmental factors resulting in intracranial calcification are congenital infections with toxoplasmosis, and cytomegalovirus. There are increasing reports on cases showing pictures of congenital infection in the absence of confirmative positive TORCH screen, and there are many cases reported worldwide sharing the same presentation labeled as autosomal recessive congenital infection-like syndrome or pseudo-TORCH syndrome (OMIM 600158).

颅内钙化,小头畸形和癫痫。如果不是先天性感染,那会是什么呢?
颅内钙化有多种病因;其中包括涉及钙稳态的环境和代谢紊乱。导致颅内钙化的主要环境因素是先天性弓形虫感染和巨细胞病毒感染。越来越多的病例报告显示,在没有TORCH筛查确认阳性的情况下,仍有先天性感染的图像,世界范围内报告的许多病例都有相同的表现,被标记为常染色体隐性先天性感染样综合征或伪TORCH综合征(OMIM 600158)。
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