Protracted cortical visual loss in a child with ornithine transcarbamylase deficiency

Journal of Neuro-Ophthalmology

Volumn 30, Issue 1, 2010, Pages 99-102

  Anderson, Jennifer M ^a   Brodsky, Michael C ^b  

^a UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^b MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMMONIA; ARYLBUTYRIC ACID DERIVATIVE; CITRULLINE; CORTICOSTEROID; ORNITHINE CARBAMOYLTRANSFERASE; VERAPAMIL;

AMMONIA BLOOD LEVEL; ATAXIA; BIOMICROSCOPY; BLINDNESS; CASE REPORT; CHILD; CONVALESCENCE; CORTICOSTEROID THERAPY; DIFFUSION TENSOR IMAGING; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; FEMALE; FRAMESHIFT MUTATION; GENETIC ANALYSIS; HEADACHE; HUMAN; HYPERAMMONEMIA; LETHARGY; LETTER; MAGNETIC RESONANCE ANGIOGRAPHY; MIGRAINE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHLEBOGRAPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN RESTRICTION; SLIT LAMP; VISUAL IMPAIRMENT;

BLINDNESS, CORTICAL; CHILD, PRESCHOOL; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; VISUAL CORTEX;

EID: 77649248793     PISSN: 10708022     EISSN: None     Source Type: Journal    
DOI: 10.1097/WNO.0b013e3181c5d09c     Document Type: Letter

References (16)

1. Brusilow SW, Horwich AL. Urea cycle enzymes. In: Scriver CR, Beaudet AL, Sly WS, et al., eds. The Metabolic and Molecular Basis of Inherited Disease. 8th ed. Baltimore: McGraw-Hill; 2001:1909-1963
2. Takanashi J, Barkovich AJ, Cheng SF, et al. Brain MR imaging in acute hyperammonemic encephalopathy arising from late-onset ornithine transcarbamylase deficiency. AJNR Am J Neuroradiol 2003;24:390-393
3. Schwab S, Schwartz S, Mayatepak E, et al. Recurrent brain edema in ornithine transcarbamylase deficiency. J Neurol 1999;246:609-611
4. Christodoulou J, Qureshi IA, McInnes RR, et al. Ornithine transcarbamylase deficiency presenting with stroke-like episodes. J Pediatr 1993;122:423-425
5. Wraith JE. Ornithine carbamoyltransferase deficiency. Arch Dis Child 2001;84:84-88
6. Maestri NE, Brusilow SW, Clissold DB, et al. Long-term treatment of girls with ornithine-transcarbamylase deficiency. N Engl J Med 1996;335:855-859
7. de Grauw TJ, Smit LM, Brockstedt M, et al. Acute hemiparesis as the presenting sign in a heterozygote for ornithine transcarbamylase deficiency. Neuropediatrics 1990;21:133-135
8. Mirowitz SA, Sartor K, Prensky AJ, et al. Neurodegenerative diseases of childhood: MR and CT evaluation. J Comput Assist Tomog 1991;15:210-222
9. Mamourian AC, du Plessis A. Urea cycle defect: a case with MR and CT findings resembling infarct. Pediatr Radiol 1991; 21:594-605.
10. Connelly A, Cross JH, Gadian DG, et al. Magnetic resonance spectroscopy shows increased brain glutamine in ornithine carbamoyl transferase deficiency. Pediatr Res 1993;33: 77-81.
11. Bajaj SK, Kurlemann G, Schuierer G, et al. CT and MRI in a girl with late-onset ornithine transcarbamylase deficiency: case report. Neuroradiology 1996;38: 796-799
12. Takanashi J, Kurihara A, Tomita M, et al. Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency. Neurology 2002;59: 210-214
13. Janzer RC, Friede RL. Perisulcal infarcts: lesions caused by hypotension during increased intracranial pressure. Ann Neurol 1979;6:399-404.
14. Kurihara A, Takanashi J, Tomita M, et al. Magnetic resonance imaging in late-onset transcarbamylase deficiency. Brain Dev 2003;25:40-44
15. Arnold SM, Els T, Spreer J, et al. Acute hepatic encephalopathy with diffuse cortical lesions. Neuroradiology 2001;43:551-554
16. Afshari MA, Afshari NA, Fulton AB. Cortical visual impairment in infants and children. Int Ophthalmol Clin 2001;41:159-169