Literature DB >> 3347354

CT and MRI in maple syrup urine disease.

G Uziel1, M Savoiardo, N Nardocci.   

Abstract

We describe a patient with a variant form of maple syrup urine disease who had unusual CT and MRI features that raised the suspicion of a metabolic disease. There were low density and abnormal signal in the white matter and pallida. Sponginess in these areas is the likely explanation for these findings.

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Year:  1988        PMID： 3347354     DOI： 10.1212/wnl.38.3.486

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  11 in total

1.  Creatine and antioxidant treatment prevent the inhibition of creatine kinase activity and the morphological alterations of C6 glioma cells induced by the branched-chain alpha-keto acids accumulating in maple syrup urine disease.

Authors:  Cláudia Funchal; Patrícia Fernanda Schuck; André Quincozes Dos Santos; Maria Caroline Jacques-Silva; Carmem Gottfried; Regina Pessoa-Pureur; Moacir Wajner
Journal:  Cell Mol Neurobiol       Date:  2006-02       Impact factor: 5.046

2.  Maple syrup urine disease: interrelations between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelination.

Authors:  E Treacy; C L Clow; T R Reade; D Chitayat; O A Mamer; C R Scriver
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

3.  Morphological alterations and cell death provoked by the branched-chain alpha-amino acids accumulating in maple syrup urine disease in astrocytes from rat cerebral cortex.

Authors:  Cláudia Funchal; Carmem Gottfried; Lúcia Maria Vieira de Almeida; André Quincozes dos Santos; Moacir Wajner; Regina Pessoa-Pureur
Journal:  Cell Mol Neurobiol       Date:  2005-08       Impact factor: 5.046

4.  Leukoencephalopathy with swelling in children and adolescents: MRI patterns and differential diagnosis.

Authors:  M S van der Knaap; J Valk; P G Barth; L M Smit; B G van Engelen; P Tortori Donati
Journal:  Neuroradiology       Date:  1995-11       Impact factor: 2.804

5.  Atypical phenotype in a boy with a maple syrup urine disease.

Authors:  T I Ben-Omran; S Blaser; H Phillips; J Callahan; A Feigenbaum
Journal:  J Inherit Metab Dis       Date:  2006-02       Impact factor: 4.982

6.  Pattern recognition in magnetic resonance imaging of white matter disorders in children and young adults.

Authors:  M S van der Knaap; J Valk; N de Neeling; J J Nauta
Journal:  Neuroradiology       Date:  1991       Impact factor: 2.804

7.  Structural white matter changes in adolescents and young adults with maple syrup urine disease.

Authors:  D Klee; E Thimm; H J Wittsack; D Schubert; R Primke; G Pentang; J Schaper; U Mödder; A Antoch; U Wendel; M Cohnen
Journal:  J Inherit Metab Dis       Date:  2013-01-25       Impact factor: 4.982

8.  Successful repair and postoperative management of tetralogy of Fallot in a patient with maple syrup urine disease.

Authors:  M Fukutomi; S Kitamura; K Kawachi; T Tsuji; K Hashimoto; A Yoshioka
Journal:  Heart Vessels       Date:  1993       Impact factor: 2.037

Review 9.  Neuroradiological and neurophysiological indices for neurometabolic disorders.

Authors:  A Kohlschütter
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183

10.  Apoptotic signaling pathways induced by acute administration of branched-chain amino acids in an animal model of maple syrup urine disease.

Authors:  Thais C Vilela; Giselli Scaini; Camila B Furlanetto; Matheus A B Pasquali; João Paulo A Santos; Daniel P Gelain; José Cláudio F Moreira; Patrícia F Schuck; Gustavo C Ferreira; Emilio L Streck
Journal:  Metab Brain Dis       Date:  2016-08-11       Impact factor: 3.584
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