Abstract |
Muscle-eye-brain disease is a congenital muscular dystrophy characterized by structural brain and eye defects. Here, we describe a 12-year-old boy with partial agenesis of corpus callosum, ventriculomegaly, flattened brain stem, diffuse pachygyria, blindness, profound cognitive deficiencies, and generalized muscle weakness, yet without a clear dystrophic pattern on muscle biopsy. There was no glycosylation of α- dystroglycan and the genetic screening revealed a novel truncating mutation, c.1545delC (p.Tyr516Thrfs*21), and a previously identified missense mutation, c.1469G>A (p.Cys490Tyr), in the protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1 ( POMGNT1) gene. These findings broaden the clinical spectrum of muscle-eye-brain disease to include pronounced hypotonia with severe brain and eye malformations, yet with mild histopathologic changes in the muscle specimen, despite the absence of glycosylated α- dystroglycan.
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Authors | Madalina Raducu, Rocío P Cotarelo, Rogelio Simón, Ana Camacho, Marcos Rubio-Fernández, Aurelio Hernández-Laín, Jesús Cruces |
Journal | Journal of child neurology
(J Child Neurol)
Vol. 29
Issue 2
Pg. 289-94
(Feb 2014)
ISSN: 1708-8283 [Electronic] United States |
PMID | 24282183
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- N-Acetylglucosaminyltransferases
- protein O-mannose beta-1,2-N-acetylglucosaminyltransferase
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Topics |
- Biopsy
- Brain
(pathology)
- Child
- DNA Mutational Analysis
- Humans
- Immunoblotting
- Immunohistochemistry
- Magnetic Resonance Imaging
- Male
- Mutation
- Mutation, Missense
- N-Acetylglucosaminyltransferases
(genetics)
- Quadriceps Muscle
(metabolism, pathology)
- Walker-Warburg Syndrome
(genetics, pathology, physiopathology)
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