Abstract | BACKGROUND: METHODS: The data of patients who were diagnosed with muscle-eye-brain disease from a cohort of patients with congenital muscular dystrophy in the Division of Pediatric Neurology of Dokuz Eylül University School of Medicine and Gaziantep Children's Hospital between 2005 and 2013 were analyzed retrospectively. RESULTS: From a cohort of 34 patients with congenital muscular dystrophy, 12 patients from 10 families were diagnosed with muscle-eye-brain disease. The mean age of the patients was 9 ± 5.5 years (2-19 years). Mean serum creatine kinase value was 2485.80 ± 1308.54 IU/L (700-4267 IU/L). All patients presented with muscular hypotonia at birth followed by varying degrees of spasticity and exaggerated deep tendon reflexes in later stages of life. Three patients were able to walk. The most common ophthalmologic and radiologic abnormalities were cataracts, retinal detachment, periventricular white matter abnormalities, ventriculomegaly, pontocerebellar hypoplasia, and multiple cerebellar cysts. All of the patients had mutations in the POMGNT1 gene. The most common mutation detected in 66% of patients was c.1814 G > A (p.R605H). Two novel mutations were identified. CONCLUSIONS:
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Authors | Uluç Yiş, Gökhan Uyanik, Deborah Morris Rosendahl, Kürşat Bora Carman, Erhan Bayram, Marisol Heise, Gamze Cömertpay, Semra Hız Kurul |
Journal | Pediatric neurology
(Pediatr Neurol)
Vol. 50
Issue 5
Pg. 491-7
(May 2014)
ISSN: 1873-5150 [Electronic] United States |
PMID | 24731844
(Publication Type: Journal Article)
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Copyright | Copyright © 2014 Elsevier Inc. All rights reserved. |
Chemical References |
- N-Acetylglucosaminyltransferases
- protein O-mannose beta-1,2-N-acetylglucosaminyltransferase
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Topics |
- Adolescent
- Brain
(pathology)
- Child
- Child, Preschool
- Cohort Studies
- DNA Mutational Analysis
- Diagnostic Techniques, Ophthalmological
- Family
- Female
- Humans
- Magnetic Resonance Imaging
- Male
- N-Acetylglucosaminyltransferases
(genetics)
- Phenotype
- Turkey
- Walker-Warburg Syndrome
(genetics, pathology, physiopathology)
- Young Adult
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