Muscle-Eye-Brain Disease
| Autor: | Carsten G Bonnemann, Kalpathy S. Krishnamoorthy, Jennifer A Markowitz, Brian S. Tseng, Anant M. Shenoy, Aaron D. Bossler |
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| Rok vydání: | 2010 |
| Předmět: |
Pathology
medicine.medical_specialty Article Muscular Diseases Biopsy medicine Humans Eye Abnormalities Global developmental delay Dystroglycans Genetic testing Brain Diseases Optic nerve hypoplasia Muscle biopsy medicine.diagnostic_test business.industry Infant General Medicine Hyporeflexia medicine.disease Magnetic Resonance Imaging Hypotonia Facial muscles medicine.anatomical_structure Neurology Female Neurology (clinical) medicine.symptom business |
| Zdroj: | Journal of Clinical Neuromuscular Disease. 11:124-126 |
| ISSN: | 1522-0443 |
| Popis: | A term female infant was evaluated for global developmental delay, hypotonia, hyporeflexia, diffuse weakness including facial muscles, and visual impairment with optic nerve hypoplasia. In the absence of family history or perinatal concerns, an extensive investigation was performed, including lab studies, muscle biopsy, brain MRI and focused genetic testing. This revealed elevated serum CK, a structurally abnormal brain, and a dystrophic-appearing muscle biopsy with evidence of a glycosylation defect in the alpha-dystroglycan complex. Of the 6 known related genes, testing of the POMGnT1 gene showed three heterozygous missense mutations. Thus her history, examination, biopsy specimen, imaging, laboratory, and genetic studies are all consistent with the diagnosis of Muscle-Eye-Brain (MEB) disease. MEB is one of an emerging spectrum of congenital disorders that involve both central and peripheral nervous systems, described further in this case report. |
| Databáze: | OpenAIRE |
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