Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature.
Results of a literature survey of 173 patients with Leigh syndrome are presented, with emphasis on signs and symptoms in relation to age at onset, contributions of technical investigations to the diagnosis, pathophysiology, genetic considerations and therapeutic aspects. Based on this study we are of the opinion that it is possible to come to a diagnosis of "most probable Leigh syndrome" durante vitamin on the combination of clinical signs and symptoms, autosomal recessive mode of inheritance, association with a defect of energy metabolism, and CT or MRI abnormalities.
van Erven
P M
PM
Department of Child Neurology, University Hospital Nijmegen, The Netherlands.
Cillessen
J P
JP
Eekhoff
E M
EM
Gabreëls
F J
FJ
Doesburg
W H
WH
Lemmens
W A
WA
Slooff
J L
JL
Renier
W O
WO
Ruitenbeek
W
W
D000293:Adolescent; D001928:Brain Diseases, Metabolic / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007888:Leigh Disease / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D008297:Male