文章基本信息

标题：Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B
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作者：Fady Hannah-Shmouni ; Lauren MacNeil ; Murray Potter 等
期刊名称：Molecular Genetics and Metabolism Reports
印刷版ISSN：2214-4269
出版年度：2019
卷号：18
页码：11-13
DOI：10.1016/j.ymgmr.2018.12.003
出版社：Elsevier B.V.
摘要：Newborns with cystic degeneration with or without intractable seizures should be investigated for inborn errors of metabolism, including molybdenum cofactor deficiency (MoCoD). MoCoD may present with non-specific hypoxic ischemic injury in the neonatal period with MRI showing extensive prenatally acquired cystic encephalomalacia involving grey and white matter. Most newborns with MoCoD will present with normal head size and brain appearance at birth and postnatally rapidly develop cystic encephalomalacia. A significant minority will present with signs of prenatal brain injury or malformation. It is important to consider the diagnosis in both scenarios. Low plasma urate and homocysteine may help direct the diagnostic evaluation. Herein, we describe the clinical, radiological and biochemical features of a newborn with MoCoD that was initially suspected of having the condition on biochemical screening and confirmed on rapid whole exome sequencing.
关键词：Molybdenum cofactor deficiency ; Cystic ; Brain MRI ; Inborn errors of metabolism