两名患有钼辅因子缺乏症儿童的脑部CT和MR表现。
CT and MR appearance of the brain in two children with molybdenum cofactor deficiency.
作者信息
Appignani B A, Kaye E M, Wolpert S M
机构信息
Department of Neuroradiology, Tufts New England Medical Center, Boston, Massachusetts, USA.
出版信息
AJNR Am J Neuroradiol. 1996 Feb;17(2):317-20.
Abstract
Imaging findings in two children with molybdenum cofactor deficiency included, in one, diffuse low attenuation on CT in cerebral white matter, caudate nuclei, and thalami soon after birth. MR in both patients later demonstrated progressive widening of the sulci, ventricles, and cisterna magna, and loss of brain volume. MR finally showed cessation of myelination at 31 months and 16 weeks of age.
摘要
两名患有钼辅因子缺乏症的儿童的影像学表现如下
其中一名儿童出生后不久，CT显示大脑白质、尾状核和丘脑弥漫性低密度影。两名患者后来的磁共振成像（MR）均显示脑沟、脑室和枕大池进行性增宽，脑容量减少。MR最终显示，两名患者分别在31个月和16周龄时停止髓鞘形成。
相似文献
1
CT and MR appearance of the brain in two children with molybdenum cofactor deficiency.两名患有钼辅因子缺乏症儿童的脑部CT和MR表现。
AJNR Am J Neuroradiol. 1996 Feb;17(2):317-20.
2
In vivo brain proton MR spectroscopy in a case of molybdenum cofactor deficiency.
Pediatr Radiol. 1999 Nov;29(11):846-8. doi: 10.1007/s002470050710.
3
Ahomocysteinemia in molybdenum cofactor deficiency.钼辅因子缺乏症中的高同型半胱氨酸血症。
Neurology. 1998 Sep;51(3):860-2. doi: 10.1212/wnl.51.3.860.
4
Blood uric acid as a pointer to the diagnosis of molybdenum cofactor deficiency.
Acta Paediatr. 1998 Jun;87(6):714-5. doi: 10.1080/080352598750014229.
5
Molybdenum-cofactor deficiency: an easily missed cause of neonatal convulsions.
Neuropediatrics. 1993 Jun;24(3):139-42. doi: 10.1055/s-2008-1071531.
6
Molybdenum cofactor deficiency can mimic postanoxic encephalopathy.钼辅因子缺乏可模拟缺氧后脑病。
J Inherit Metab Dis. 1993;16(5):900-1. doi: 10.1007/BF00714290.
7
Diagnosis of molybdenum cofactor deficiency.
Lancet. 1999 Feb 20;353(9153):675-6. doi: 10.1016/S0140-6736(05)75474-X.
8
Molybdenum cofactor deficiency.钼辅因子缺乏症。
J Pediatr. 1993 Oct;123(4):595-8. doi: 10.1016/s0022-3476(05)80961-8.
9
Molybdenum cofactor deficiency associated with Dandy-Walker malformation.
J Inherit Metab Dis. 1995;18(1):86-7. doi: 10.1007/BF00711384.
10
Molybdenum-cofactor deficiency: CT and MR findings.
Neuropediatrics. 1995 Feb;26(1):51-4. doi: 10.1055/s-2007-979720.
引用本文的文献
1
A neonate with molybdenum cofactor deficiency type B.一名患有B型钼辅因子缺乏症的新生儿。
Transl Pediatr. 2021 Apr;10(4):1039-1044. doi: 10.21037/tp-20-357.
2
3
Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature.钼辅因子缺乏症的轻度表型：一位新患者及文献复习。
Mol Genet Genomic Med. 2019 Jun;7(6):e657. doi: 10.1002/mgg3.657. Epub 2019 Mar 21.
4
Novel Imaging Finding and Novel Mutation in an Infant with Molybdenum Cofactor Deficiency, a Mimicker of Hypoxic-Ischaemic Encephalopathy.钼辅因子缺乏症患儿的新型影像学表现及新型突变，钼辅因子缺乏症是缺氧缺血性脑病的模仿者
Iran J Child Neurol. 2018 Spring;12(2):107-112.
5
Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency.超罕见疾病：钼辅酶缺陷的自然史的定量分析。
Genet Med. 2015 Dec;17(12):965-70. doi: 10.1038/gim.2015.12. Epub 2015 Mar 12.
6
Cranial ultrasound and chronological changes in molybdenum cofactor deficiency.
Pediatr Radiol. 2007 Oct;37(10):1043-6. doi: 10.1007/s00247-007-0558-2. Epub 2007 Aug 18.
Zotero 插件