Literature DB >> 8938304

CT and MR appearance of the brain in two children with molybdenum cofactor deficiency.

B A Appignani1, E M Kaye, S M Wolpert.   

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.

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Year:  1996        PMID: 8938304      PMCID: PMC8338385     

Source DB:  PubMed          Journal:  AJNR Am J Neuroradiol        ISSN: 0195-6108            Impact factor:   3.825


  5 in total

1.  Cranial ultrasound and chronological changes in molybdenum cofactor deficiency.

Authors:  Mercedes Serrano; Isabel Lizarraga; Jochen Reiss; Anna Paula Dias; Belén Pérez-Dueñas; Maria Antonia Vilaseca; Rafael Artuch; Jaume Campistol; Angels García-Cazorla
Journal:  Pediatr Radiol       Date:  2007-08-18

2.  Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature.

Authors:  Barbara Scelsa; Serena Gasperini; Andrea Righini; Maria Iascone; Valeria G Brazzoduro; Pierangelo Veggiotti
Journal:  Mol Genet Genomic Med       Date:  2019-03-21       Impact factor: 2.183

3.  Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency.

Authors:  Konstantin Mechler; William K Mountford; Georg F Hoffmann; Markus Ries
Journal:  Genet Med       Date:  2015-03-12       Impact factor: 8.822

4.  Novel Imaging Finding and Novel Mutation in an Infant with Molybdenum Cofactor Deficiency, a Mimicker of Hypoxic-Ischaemic Encephalopathy.

Authors:  Sangeetha Yoganathan; SniyaVALSA Sudhakar; Maya Thomas; Atanu Kumar Dutta; Sumita Danda; Mahalakshmi Chandran
Journal:  Iran J Child Neurol       Date:  2018

5.  Effects of food supplementation on cognitive function, cerebral blood flow, and nutritional status in young children at risk of undernutrition: randomized controlled trial.

Authors:  Susan B Roberts; Maria A Franceschini; Rachel E Silver; Salima F Taylor; Augusto Braima de Sa; Raimundo Có; Aliu Sonco; Amy Krauss; Amy Taetzsch; Patrick Webb; Sai Krupa Das; C-Y Chen; Beatrice L Rogers; Edward Saltzman; Pei-Yi Lin; Nina Schlossman; William Pruzensky; Carlito Balé; Kenneth Kwan Ho Chui; Paul Muentener
Journal:  BMJ       Date:  2020-07-22
  5 in total

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