Optic neuropathy in a patient with pyruvate dehydrogenase deficiency

Pediatric Radiology

Volumn 39, Issue 10, 2009, Pages 1114-1117

  Small, Juan E ^a   Gonzalez, Guido E ^b,c   Nagao, Karina E ^b   Walton, David S ^b   Caruso, Paul A ^b  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c UNIVERSIDAD DEL DESARROLLO   (Chile)

Author keywords

Optic neuropathy; Pyruvate dehydrogenase deficiency

Indexed keywords

ALPHA TOCOPHEROL; ASCORBIC ACID; CARNITINE; PYRUVATE DEHYDROGENASE; RIBOFLAVIN; THIAMINE; THIOCTIC ACID; UBIQUINONE;

ADULT; ARTICLE; CASE REPORT; DISEASE ASSOCIATION; ENZYME ASSAY; HUMAN; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC CHIASM; OPTIC NERVE DISEASE; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; VISUAL ACUITY; WESTERN BLOTTING;

HUMANS; MAGNETIC RESONANCE IMAGING; MALE; OPTIC NERVE DISEASES; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; VISION DISORDERS; YOUNG ADULT;

EID: 70349229238     PISSN: 03010449     EISSN: 14321998     Source Type: Journal    
DOI: 10.1007/s00247-009-1344-0     Document Type: Article

References (3)

1. F Sedel G Challe JM Mayer, et al. 2008 Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy J Neurol Neurosurg Psychiatry 79 846 847
2. GK Brown LJ Otero M LeGris, et al. 1994 Pyruvate dehydrogenase deficiency J Med Genet 31 875 879
3. van der Knaap MS, Valk J (2005) Magnetic resonance of myelination and myelin disorders, 3rd edn. Springer, Berlin