神经影像学
脑软化
癫痫
亚硫酸盐氧化酶
粒线体疾病
医学
脑病
疾病
病理
遗传学
精神科
生物
线粒体DNA
生物化学
基因
亚硫酸盐
作者
Syuan-Yu Hong,Chien‐Heng Lin
标识
DOI:10.1016/j.yebeh.2023.109246
摘要
Sulfite oxidase deficiency (SOD) and related disorders, especially molybdenum cofactor deficiency (MoCD), are a group of rare and severe neurometabolic disorders caused by gene mutations that affect the sulfur-containing amino acid catabolic pathway. These disorders are characterized by distinctive neuroimaging features such as diffuse cerebral atrophy, multicystic encephalomalacia, and ventriculomegaly in early infancy. These features are essential for early diagnosis and treatment. Moreover, the genetics of these disorders are complex but have been increasingly elucidated in the era of molecular medicine. Therefore, we reviewed 28 articles (published from January 1967 until October 2021) on SOD and MoCD, focusing on their neuroimaging and genetic aspects. We highlighted the differences between SOD and MoCD and other conditions that may mimic them, such as common neonatal hypoxic-ischemic encephalopathy and uncommon neonatal metabolic disorder (Leigh syndrome). We also summarized the current knowledge on the genetic mechanisms and the manifestation of seizure disorders of SOD and MoCD. In conclusion, if clinical, neuroimaging, and neuropathological findings suggest a possible SOD or related disorder; extensive molecular diagnostics should be performed to confirm the diagnosis.
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