Remarkable improvement in adult Leigh syndrome with partial cytochrome c oxidase deficiency.
Leigh syndrome (LS) is a heterogeneous disorder, usually due to a defect in oxidative metabolism. Typically, signs and symptoms commence in infancy or childhood, although rare cases of adult onset have been described. Progressive deterioration is the norm. The authors describe a 22-year-old woman with partial cytochrome c oxidase deficiency who developed fulminant LS following an acute febrile illness and who subsequently showed dramatic clinical and neuroradiologic improvement.
Goldenberg
P C
PC
School of Medicine, Oregon Health & Science University, Portland 97201, USA.
Steiner
R D
RD
Merkens
L S
LS
Dunaway
T
T
Egan
R A
RA
Zimmerman
E A
EA
Nesbit
G
G
Robinson
B
B
Kennaway
N G
NG
D000328:Adult; D001205:Ascorbic Acid / Q000008:administration & dosage; D001921:Brain / Q000473:pathology; D030401:Cytochrome-c Oxidase Deficiency / Q000188:drug therapy*; D004359:Drug Therapy, Combination; D005260:Female; D006801:Humans; D007888:Leigh Disease / Q000175:diagnosis / Q000188:drug therapy* / Q000201:enzymology*; D008279:Magnetic Resonance Imaging; D012074:Remission Induction; D012256:Riboflavin / Q000008:administration & dosage; D013831:Thiamine / Q000008:administration & dosage; D014451:Ubiquinone / Q000008:administration & dosage
D014451:Ubiquinone; D001205:Ascorbic Acid; D012256:Riboflavin; D013831:Thiamine