A Neonatal Form of Alexander Disease Presented with Intractable Seizures and Obstructive Hydrocephalus |
Yoo, Il Han
(Pediatric Clinical Neuroscience Center, Department of Pediatrics, Seoul National University Children's hospital)
Hong, Won Gi (Pediatric Clinical Neuroscience Center, Department of Pediatrics, Seoul National University Children's hospital) Kim, Hunmin (Department of Pediatrics, Seoul National University Bundang Hospital) Lim, Byung Chan (Pediatric Clinical Neuroscience Center, Department of Pediatrics, Seoul National University Children's hospital) Hwang, Hee (Department of Pediatrics, Seoul National University Bundang Hospital) Chae, Jong-Hee (Pediatric Clinical Neuroscience Center, Department of Pediatrics, Seoul National University Children's hospital) Kim, Ki Joong (Pediatric Clinical Neuroscience Center, Department of Pediatrics, Seoul National University Children's hospital) Hwang, Yong Seung (Pediatric Clinical Neuroscience Center, Department of Pediatrics, Seoul National University Children's hospital) |
1 | Prust M, Wang J, Morizono H, Messing A, Brenner M, Gordon E, et al. GFAP mutations, age at onset, and clinical subtypes in Alexander disease. Neurology 2011;77:1287-94. DOI ScienceOn |
2 | Singh N, Bixby C, Etienne D, Tubbs RS, Loukas M. Alexander's disease: reassessment of a neonatal form. Childs Nerv Syst 2012;28:2029-31. DOI ScienceOn |
3 | Springer S, Erlewein R, Naegele T, Becker I, Auer D, Grodd W, et al. Alexander disease--classification revisited and isolation of a neonatal form. Neuropediatrics 2000;31:86-92. DOI ScienceOn |
4 | Li R, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, et al. Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Ann Neurol 2005;57:310-26. DOI ScienceOn |
5 | Hartmann H, Herchenbach J, Stephani U, Ledaal P, Donnerstag F, Lucke T, et al. Novel mutations in exon 6 of the GFAP gene affect a highly conserved if motif in the rod domain 2B and are associated with early onset infantile Alexander disease. Neuropediatrics 2007;38:143-7. DOI ScienceOn |
6 | Park GM, Ko JH , Min KS. A case of infantile Alexander disease. J Korean Child Neurol Soc 2009;17:215-20. |
7 | Lee JM, Kim AS, Lee SJ, Cho SM, Lee DS, Choi SM, et al. A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis J Korean Med Sci 2006; 21: 954-7. DOI ScienceOn |
8 | Alexander WS. Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant. Brain 1949;72:373-81. DOI ScienceOn |
![]() |