Literature DB >> 7991095

MRI of the brain in muscle-eye-brain (MEB) disease.

L Valanne1, H Pihko, K Katevuo, P Karttunen, H Somer, P Santavuori.   

Abstract

Muscle-eye-brain (MEB) disease belongs to the spectrum of rare congenital syndromes with migration disorders of the brain and muscular dystrophy, along with the Walker-Warburg syndrome and Fukuyama congenital muscular dystrophy. Their features overlap, and differential diagnosis presents some difficulties. We examined the brain of 10 patients with MEB using high-field MRI and found a uniform pattern consisting of a pachygyria-type cortical migration disorder, septal and corpus callosum defects and severe hypoplasia of the pons in 7 of them.

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Year:  1994        PMID: 7991095     DOI: 10.1007/BF00593687

Source DB:  PubMed          Journal:  Neuroradiology        ISSN: 0028-3940            Impact factor:   2.804


  18 in total

1.  MR imaging of the brain in Fukuyama-type congenital muscular dystrophy.

Authors:  M Yoshioka; S Saiwai; S Kuroki; H Nigami
Journal:  AJNR Am J Neuroradiol       Date:  1991 Jan-Feb       Impact factor: 3.825

Review 2.  Disorders of neuronal migration.

Authors:  P G Barth
Journal:  Can J Neurol Sci       Date:  1987-02       Impact factor: 2.104

3.  Cerebro-ocular dysgenesis (Walker-Warburg syndrome): neuropathologic and etiologic analysis.

Authors:  R S Williams; C N Swisher; M Jennings; M Ambler; V S Caviness
Journal:  Neurology       Date:  1984-12       Impact factor: 9.910

4.  Cortical dysplasia in congenital muscular dystrophy with central nervous system involvement (Fukuyama type).

Authors:  K Takada; H Nakamura; J Tanaka
Journal:  J Neuropathol Exp Neurol       Date:  1984-07       Impact factor: 3.685

Review 5.  The agyria-pachygyria complex: a spectrum of cortical malformations.

Authors:  J Aicardi
Journal:  Brain Dev       Date:  1991       Impact factor: 1.961

6.  Hydrocephalus, lissencephaly, ocular abnormalities and congenital muscular dystrophy. A Warburg syndrome variant?

Authors:  L Pavone; F Gullotta; S Grasso; C Vannucchi
Journal:  Neuropediatrics       Date:  1986-11       Impact factor: 1.947

7.  Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations.

Authors:  Y Fukuyama; M Osawa; H Suzuki
Journal:  Brain Dev       Date:  1981       Impact factor: 1.961

8.  Muscle-eye-brain disease (MEB)

Authors:  P Santavuori; H Somer; K Sainio; J Rapola; S Kruus; T Nikitin; L Ketonen; J Leisti
Journal:  Brain Dev       Date:  1989       Impact factor: 1.961

9.  Cerebro-ocular dysplasia-muscular dystrophy (COD-MD) syndrome.

Authors:  J Towfighi; J W Sassani; K Suzuki; R L Ladda
Journal:  Acta Neuropathol       Date:  1984       Impact factor: 17.088

10.  The spectrum of lissencephaly: report of ten patients analyzed by magnetic resonance imaging.

Authors:  A J Barkovich; T K Koch; C L Carrol
Journal:  Ann Neurol       Date:  1991-08       Impact factor: 10.422

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  7 in total

Review 1.  The Finnish Disease Heritage III: the individual diseases.

Authors:  Reijo Norio
Journal:  Hum Genet       Date:  2003-03-08       Impact factor: 4.132

Review 2.  Pediatric neurodegenerative white matter processes: leukodystrophies and beyond.

Authors:  Jonathan A Phelan; Lisa H Lowe; Charles M Glasier
Journal:  Pediatr Radiol       Date:  2008-04-30

3.  Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.

Authors:  Ute Hehr; Goekhan Uyanik; Claudia Gross; Maggie C Walter; Axel Bohring; Monika Cohen; Barbara Oehl-Jaschkowitz; Lynne M Bird; Ghiat M Shamdeen; Ulrich Bogdahn; Gerhard Schuierer; Haluk Topaloglu; Ludwig Aigner; Hanns Lochmüller; Jürgen Winkler
Journal:  Neurogenetics       Date:  2007-09-29       Impact factor: 2.660

Review 4.  [Congenital malformations of the cerebral brain. 1: Malformations of the cerebral cortex].

Authors:  B Ertl-Wagner; C Rummeny; M F Reiser
Journal:  Radiologe       Date:  2003-11       Impact factor: 0.635

5.  Midbrain-hindbrain involvement in lissencephalies.

Authors:  Patrice Jissendi-Tchofo; Simay Kara; A James Barkovich
Journal:  Neurology       Date:  2008-11-19       Impact factor: 9.910

6.  Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.

Authors:  B Cormand; K Avela; H Pihko; P Santavuori; B Talim; H Topaloglu; A de la Chapelle; A E Lehesjoki
Journal:  Am J Hum Genet       Date:  1999-01       Impact factor: 11.025

7.  Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family.

Authors:  Alessandra D'Amico; Daniela Melis; Felice D'Arco; Nilde Di Paolo; Barbara Carotenuto; Gennaro D'Anna; Carmela Russo; Pasquale Boemio; Arturo Brunetti
Journal:  Pol J Radiol       Date:  2013-11-19
  7 in total

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