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.
Published In/Presented At
Shenoy, A. M., Markowitz, J. A., Bonnemann, C. G., Krishnamoorthy, K., Bossler, A. D., & Tseng, B. S. (2010). Muscle-Eye-Brain disease. Journal of clinical neuromuscular disease, 11(3), 124–126. https://doi.org/10.1097/CND.0b013e3181c5054d
Medicine and Health Sciences
Department of Medicine