Magnetic resonance imaging in late-onset ornithine transcarbamylase deficiency

Brain and Development

Volumn 25, Issue 1, 2003, Pages 40-44

  Kurihara, Aki ^a   Takanashi, Jun Ichi ^a   Tomita, Mika ^a   Kobayashi, Kazuhiko ^a   Ogawa, Atsushi ^a   Kanazawa, Masaki ^a   Yamamoto, Shigenori ^a   Kohno, Yoichi ^a  

^a CHIBA UNIVERSITY   (Japan)

Author keywords

Late onset; Magnetic resonance imaging; Ornithine transcarbamylase deficiency; White matter lesion

Indexed keywords

ORNITHINE CARBAMOYLTRANSFERASE;

ADOLESCENT; ADULT; ARTICLE; BRAIN ATROPHY; BRAIN CORTEX; BRAIN INJURY; BRAIN VENTRICLE; CEREBELLUM ATROPHY; CHILD; CHRONIC DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; CORRELATION ANALYSIS; DIAGNOSTIC IMAGING; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; FEMALE; HUMAN; INBORN ERROR OF METABOLISM; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PARENCHYMA; WHITE MATTER;

EID: 0037245327     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0387-7604(02)00153-5     Document Type: Article

References (17)

1. Brusilow S.W., Horwich A.L. Urea cycle enzymes. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The metabolic and molecular bases of inherited disease. 8th ed: 2001;1909-1963 McGraw-Hill, New York.
2. Connelly A., Cross J.H., Gadian D.G., Hunter J.V., Kirkham F.J., Leonard J.V. Magnetic resonance spectroscopy shows increased brain glutamine in ornithine carbamoyl transferase deficiency. Pediatr Res. 33:1993;77-81.
3. Bajaj S.K., Kurlemann G., Schuierer G., Peters P.E. CT and MRI in a girl with late-onset ornithine transcarbamylase deficiency: case report. Neuroradiology. 38:1996;796-799.
4. Mirowitz S.A., Sartor K., Prensky A.J., Gado M., Hodges F.J. 3rd. Neurodegenerative disease of childhood: MR and CT evaluation. J Comput Assist Tomogr. 15:1991;210-222.
5. de Grauw T.J., Smit L.M.E., Brockstedt M., Meijer Y., van de Klei-von Moorsel J., Jakobs C. Acute hemiparesis as the presenting sign in a heterozygote for ornithine transcarbamylase deficiency. Neuropediatrics. 21:1990;133-135.
6. Mamourian A.C., du Plessis A. Urea cycle defect: a case with MR and CT findings resembling infarct. Pediatr Radiol. 21:1991;594-595.
7. Takanashi J., Kurihara A., Tomita M., Kanazawa M., Yamamoto S., Morita F., et al. Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency. Neurology. 59:2002;210-214.
8. Filloux F., Townsend J.J., Leonard C. Ornithine transcarbamylase deficiency: neuropathologic changes acquired in utero. J Pediatr. 108:1986;942-945.
9. Martin J.J., Farriaux J.P., De Jonghe P. Neuropathology of citrullinaemia. Acta Neuropathol. 56:1982;303-306.
10. Janzer R.C., Friede R.L. Perisulcal infarcts: lesions caused by hypotension during increased intracranial pressure. Ann Neurol. 6:1979;399-404.
11. Ikeda S., Yazaki M., Takei Y., Ikegami T., Hashikura Y., Kawasaki S., et al. Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation. J Neurol Neurosurg Psychiatry. 71:2001;663-670.
12. Takanashi J., Sugita K., Ishii M., Tanabe Y., Ito C., Date H., Niimi H. Moyamoya syndrome in young children: MR comparison with adult onset. Am J Neuroradiol. 14:1993;1139-1143.
13. Barkovich A.J. Toxic and metabolic brain disorders. Barkovich A.J. Pediatric neuroimaging. 3rd ed: 2000;71-156 Lippincott Williams and Wilkins, New York.
14. Takanashi J., Sugita K., Miyazato S., Sakao E., Miyamoto H., Niimi H. Antiphospholipid antibody syndrome in childhood strokes. Pediatr Neurol. 13:1995;323-326.
15. Chen Y.F., Huang Y.C., Lie H.M., Hwu W.L. MR in a case of adult-onset citrullinemia. Neuroradiology. 43:2001;845-847.
16. Kuwata A., Suda M., Tanabe H. Adult-onset type II citrullinemia: clinical pictures before and after liver transplantation. Intern Med. 36:1997;408-412.
17. Baganz M.D., Dross P.E. Valproic acid-induced hyperammonemic encephalopathy: MR appearance. Am J Neuroradiol. 15:1994;1779-1781.