| Literature DB >> 7991095 |
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.Entities:
Mesh:
Year: 1994 PMID: 7991095 DOI: 10.1007/BF00593687
Source DB: PubMed Journal: Neuroradiology ISSN: 0028-3940 Impact factor: 2.804