Necrotizing Encephalomyelopathy (Leigh)

David, Ronald B.; Gomez, Manuel R.; Okazaki, Haruo

doi:10.1111/j.1469-8749.1970.tb01937.x

Cited by 11 publications

(2 citation statements)

References 33 publications

(13 reference statements)

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“…Optical atrophy and blindness have been reported in SNE (2). The insidious onset and the chronic unremitting course in our patient, ending with a subacute exacerbation and coma, is seen in some cases of SNE (34,35). The intermittent rise of serum levels of lactate and pyruvate and, especially, the high CSF lactate and pyruvate levels in our patient pointed to a primary or secondary defect in pyruvate oxidation.…”

Section: Discussionsupporting

confidence: 49%

Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver

Erven

Gabreëls

Ruitenbeek

et al. 2009

Acta Neurologica Scandinavica

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– We studied a 17‐year‐old girl with subacute necrotizing encephalomyelopathy (Leigh syndrome). Lactate and pyruvate levels were increased in serum and cerebrospinal fluid. The oxidation rates of all substrates tested, i.e. pyruvate in liver, and pyruvate, malate and 2‐oxoglutarate in muscle, were decreased, as was the production of adenosine triphosphate plus creatine phosphate. Cytochrome content was normal. The data imply a defect in oxidative phosphorylation, outside the cytochrome region.

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Section: Discussionsupporting

confidence: 49%

Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver

Erven

Gabreëls

Ruitenbeek

et al. 2009

Acta Neurologica Scandinavica

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“…Normal blood lactates have been found in eight cases (Greenhouse and Schneck 1968, Pincus et al 1971a, Montpetit et al 1971. Low blood CO, has been seen in several cases (Procopis et al 1967, Kamoshita et al 1968, Crome 1970, David et al 1970, de Villard 1970. Periodic respiratory alkalosis was reported by Dunn and Dolman (1969).…”

Section: Symptoms and Signsmentioning

confidence: 98%

Subacute Necrotizing Encephalomyelopathy (Leigh's Disease): a Consideration of Clinical Features and Etiology

Pincus

1972

Develop Med Child Neuro

130

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SUMMARY Eighty‐six cases of subacute necrotizing encephalomyelopathy (sne) have been reviewed in order to establish as accurately ab possible the natural course and characteristic symptomatology of the disease. In most cases the diagnosis was confirmed by autopsy, which introduces a bias toward a poor prognosis. Laboratory tests have not usually been helpful diagnostically, but low blood CO2 content, elevated lactate and pyruvate and mild pH changes have been reported in several cases. These abnormalities may be related to the hyperventiltion which results from neurogenic respiratory disturbances which have been seen in a high proportion of reported cases. The finding that the urine of affected patients contains an inhibitor of the enzyme which catalyzes thiamine triphosphate (ttp) formation may be the basis of a specific diagnostic test. ttp was either totally absent or was present in abnormally low concentrations in the brains of six children who died of sne and these findings have led to therapeutic trials with high doses of thiamine, thiamine propyldisulfide and thiamine tetrafurfuryldisulfide. Initial results of therapy have been encouraging and further clinical trials seem justified. Ultimately, however, elimination of the inhibitor is likely to prove to be the only completely successful mode of therapy. RÉSUMÉ Encephalomyélopathie nécrosante subaigue (maladie de Leigh): Considérations sur les symptomes cliniques et l'étiologie 86 cas d'encéphalomyélopathie nécrosante subaigue (sne) ont été revus dans la litterature pour établir 1'évolution et les caractéristiques de la maladie. Dans la plupart des cas rapportés, le diagnostic a été confirmé par l'autopsie, ce qui indique un tendence á un mauvais pronostic. Les examens de laboratoire n'ont pas été d'une grande aide pour le díagnostic mais dans plusieurs cas, il a été signalé une faible pression partielle de CO2 dans le sang, des taux élevés de lactate et de piruvate et de légères modifications du pH. Ces anomalies peuventstre reliées à I'hyperventilation qui provient de troubles respiratoires neurogèes, observés dans une forte proportion de cas. Un test spécifique de diagnostic peut reposer sur la découverte que l'urine des malades contient un inhibiteur de l'enzyme qui catalyse la formation de la thiamine triphosphate (ttp). La ttp était totalement absente ou présente à des concentrations anormalement basses dans les cerveaux de 6 enfants morts de sne, et ces découvertes ont conduit à des essais thérapeutiques avec de fortes doses de thiamine, de thiamine propyldisulfide et thiamine tetrafurfuryldisulfide. Les premiers résultats de ce traitement sont encourageants et justifient d'autres essais cliniques. ZUSAMMENFASSUNG Subakute nekrotisierende Encephalomyelopathie (Leigh'sche Erkrankung): klinische Merkmale und Atiologie 86 Fälle mit subakuter nekrotisierender Encephalomyelopathie (sne) wurden aus der Literatur zusammengetragen, um den Verlauf und die charakteristischen Merkmale der Krankheit festzustellen. Bei den meisten beschriebenem Fällen wurde die d...

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Dystonia as a presenting sign of subacute necrotising encephalomyelopathy in infancy

Campistol¹,

Cusí²,

Vernet³

et al. 1986

Eur J Pediatr

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Necrotizing Encephalomyelopathy (Leigh)

Cited by 11 publications

References 33 publications

Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver

Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver

Subacute Necrotizing Encephalomyelopathy (Leigh's Disease): a Consideration of Clinical Features and Etiology

Dystonia as a presenting sign of subacute necrotising encephalomyelopathy in infancy

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