| Title | High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome. | | Author(s) | Morava E, Willemsen MA, Wopereis S, Ter Laak H, Lefeber D, Wevers RA, Cruysberg JR | | Institution | Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. e.morava@cukz.umcn.nl | | Source | Eur J Ophthalmol 2006 Jan-Feb; 16(1):190-4. | | MeSH | Abnormalities, Multiple
Carbohydrate Metabolism, Inborn Errors
Cerebral Cortex
Consanguinity
Cutis Laxa
Female
Glycosylation
Humans
Infant
Magnetic Resonance Imaging
Muscular Diseases
Mutation
Myopia
Polysaccharides
Research Support, Non-U.S. Gov't
Syndrome
| | Abstract | PURPOSE: Several types of inborn errors of the O-glycan biosynthesis are known, leading to clinically very distinct phenotypes. Children with O-mannosyl glycan biosynthesis defects commonly present as a severe form of congenital muscular dystrophy with decreased alpha-dystroglycan staining, congenital eye anomalies, and brain migration defects. Alpha-dystroglycan is an O-mannosylated glycoprotein with additional mucin type O-glycans.
METHODS: Based on overlapping clinical features with O-mannosyl glycan defects, especially with muscle-eye-brain disease, the authors performed a muscle biopsy in a child with severe congenital hypotonia, high myopia, partial pachygyria, mental retardation, cutis laxa, and an inborn error affecting the biosynthesis of both mucin type O-glycans and N-linked glycans.
RESULTS: The histology showed no signs of muscle dystrophy, but a mild myopathy with slight increase in the muscle fiber diameter variability and type I fiber predominance. No significant decrease in the alpha-dystroglycan staining was detected; therefore, in spite of the phenotypic similarities the authors could not confirm the role of abnormal dystroglycan in the etiology of the muscle weakness and the developmental anomalies.
CONCLUSIONS: High myopia, muscle weakness, and cortical neuronal migration abnormalities are common in disorders of O-mannosylation and also observed in the authors' patient. However, compared to the severe generalized defect observed in mannosyl glycan defects, in this child the cerebral white matter and cerebellum were spared, and no muscle dystrophy could be confirmed. This is the first description of high myopia in cutis laxa syndrome in combination with congenital disorders of glycosylation. | | Language | eng | | Pub Type(s) | Case Reports
Journal Article
| | PubMed ID | 16496270 |
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