Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature

P. M.M. van Erven, J. P.M. Cillessen, E. M.W. Eekhoff, F. J.M. Gabreëls, W. H. Doesburg, W. A.J.G. Lemmens, J. L. Slooff, W. O. Renier, W. Ruitenbeek

Research output: Contribution to journalArticleAcademicpeer-review


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 vitam 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.

Original languageEnglish
Pages (from-to)217-230
Number of pages14
JournalClinical Neurology and Neurosurgery
Issue number4
Publication statusPublished - 1987

Cite this