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

doi:https://doi.org/10.1016/S0303-8467(87)80020-3

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

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Abstract

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 language	English
Pages (from-to)	217-230
Number of pages	14
Journal	Clinical Neurology and Neurosurgery
Volume	89
Issue number	4
DOIs	https://doi.org/10.1016/S0303-8467(87)80020-3
Publication status	Published - 1987

Keywords

Leigh syndrome
clinical diagnosis
literature study

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https://doi.org/10.1016/S0303-8467(87)80020-3

Cite this

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

abstract = "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.",

keywords = "Leigh syndrome, clinical diagnosis, literature study",

author = "{van Erven}, {P. M.M.} and Cillessen, {J. P.M.} and Eekhoff, {E. M.W.} and Gabre{\"e}ls, {F. J.M.} and Doesburg, {W. H.} and Lemmens, {W. A.J.G.} and Slooff, {J. L.} and Renier, {W. O.} and W. Ruitenbeek",

year = "1987",

doi = "https://doi.org/10.1016/S0303-8467(87)80020-3",

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T1 - Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature

AU - van Erven, P. M.M.

AU - Cillessen, J. P.M.

AU - Eekhoff, E. M.W.

AU - Gabreëls, F. J.M.

AU - Doesburg, W. H.

AU - Lemmens, W. A.J.G.

AU - Slooff, J. L.

AU - Renier, W. O.

AU - Ruitenbeek, W.

PY - 1987

Y1 - 1987

N2 - 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.

AB - 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.

KW - Leigh syndrome

KW - clinical diagnosis

KW - literature study

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M3 - Article

C2 - 3319345

SN - 0303-8467

VL - 89

SP - 217

EP - 230

JO - Clinical Neurology and Neurosurgery

JF - Clinical Neurology and Neurosurgery

IS - 4

ER -

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

Abstract

Keywords

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