Childhood Mitochondrial Disorders and Other Inborn Errors of Metabolism Presenting With White Matter Disease

作者: Adeline Vanderver , Andrea L. Gropman

DOI: 10.1007/978-1-59259-888-5_22

关键词:

摘要: Advances in neuroimaging, particularly magnetic resonance imaging (MRI), have made possible the study of normal and abnormal brain myelination. Although many disorders present with nonspecific MRI findings, more detailed analysis newer modalities such as diffusion tensor (DTI), spectroscopy (MRS), magnetization transfer (MTI), allow investigation white matter microstructure, abnormalities that may precede evade detection on conventional MRI. The purpose this chapter is to discuss utility neuroimaging differentiation mitochondrial other inborn errors metabolism. first section will used their application diagnosis metabolic disease. second focus some characteristic which visualized neuroimaging. not meant be an exhaustive summary, several key clinical features presented. Finally, a table well examples serve solidify between illustrate best investigate etiology and, cases, follow disease progression response therapies.

参考文章(311)
Ergün Çil, Haluk Topalogˇlu, Melda Çagˇlar, Sencan Özme, Left ventricular structure and function by echocardiography in congenital muscular dystrophy Brain & Development. ,vol. 16, pp. 301- 303 ,(1994) , 10.1016/0387-7604(94)90027-2
Yoshihisa Higuchi, Haruo Hattori, Masahiro Tsuji, Reinin Asato, Tatsutoshi Nakahata, Partial seizures in leukoencephalopathy with swelling and a discrepantly mild clinical course. Brain & Development. ,vol. 22, pp. 387- 389 ,(2000) , 10.1016/S0387-7604(00)00156-X
Steven G. Pavlakis, Peter C. Phillips, Salvatore DiMauro, Darryl C. De Vivo, Lewis P. Rowland, Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Annals of Neurology. ,vol. 16, pp. 481- 488 ,(1984) , 10.1002/ANA.410160409
Chitose Sugiura, Hajime Miyata, Akira Oka, Sachio Takashima, Eisaku Ohama, Kenzo Takeshita, A Japanese girl with leukoencephalopathy with vanishing white matter. Brain & Development. ,vol. 23, pp. 58- 61 ,(2001) , 10.1016/S0387-7604(00)00198-4
Michèl A. Willemsen, Monique A. Lutt, Peter M. Steijlen, Johannes R. Cruysberg, Marinette van der Graaf, Maria W. Nijhuis-van der Sanden, Jaco W. Pasman, Ertan Mayatepek, Jan J. Rotteveel, Clinical and biochemical effects of zileuton in patients with the Sjögren-Larsson syndrome. European Journal of Pediatrics. ,vol. 160, pp. 711- 717 ,(2001) , 10.1007/S004310100838
Katsuo Sugita, Jun-ichi Takanashi, Mitsuko Ishii, Hiroo Niimi, Comparison of MRI white matter changes with neuropsychologic impairment in Cockayne syndrome. Pediatric Neurology. ,vol. 8, pp. 295- 298 ,(1992) , 10.1016/0887-8994(92)90369-A
C M Sue, D S Crimmins, Y S Soo, R Pamphlett, C M Presgrave, N Kotsimbos, M J B Jean-Francois, E Byrne, J G L Morris, Neuroradiological features of six kindreds with MELAS tRNALeu A3243G point mutation: implications for pathogenesis Journal of Neurology, Neurosurgery, and Psychiatry. ,vol. 65, pp. 233- 240 ,(1998) , 10.1136/JNNP.65.2.233
E. Mercuri, L. Dubowitz, A. Berardinelli, J. Pennock, M. Jongmans, S. Henderson, F. Muntoni, C. Sewry, J. Philpot, V. Dubowitz, Minor neurological and perceptuo-motor deficits in children with congenital muscular dystrophy: correlation with brain MRI changes. Neuropediatrics. ,vol. 26, pp. 156- 162 ,(1995) , 10.1055/S-2007-979746
Anne Fogli, Diana Rodriguez, Eléonore Eymard-Pierre, Françoise Bouhour, Pierre Labauge, Brandon F. Meaney, Susan Zeesman, Christine R. Kaneski, Raphael Schiffmann, Odile Boespflug-Tanguy, Ovarian failure related to eukaryotic initiation factor 2B mutations. American Journal of Human Genetics. ,vol. 72, pp. 1544- 1550 ,(2003) , 10.1086/375404