Subacute necrotizing encephalomyelopathy

Greenhouse, Arnold H.; Schneck, Stuart A.

doi:10.1212/wnl.18.1_part_1.1

Cited by 25 publications

(12 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…(Pyruvate and lactate levels fluctuate in normal persons and may appear increased in samples collected from a struggling infant, so one must be cautious in interpreting increased levels.) Treatment with thiamine by Greenhouse and Schneck (1968) and Clayton et al (1967) failed to influence either the clinical course or the increased levels of pyruvate and lactate. Treatment with lipoic acid by Clayton et al (1967) andHommes et al (1968) has been associated with some clinical benefit although, in the latter case, lipoic acid therapy failed to correct completely the decreased rate of lactate utilization.…”

Section: Etiologic Mechanismsmentioning

confidence: 91%

Necrotizing Encephalomyelopathy (Leigh)

David

Gomez²,

Okazaki

1970

Develop Med Child Neuro

View full text Add to dashboard Cite

SUMMARY Three cases of necrotizing encephalomyelopathy (Leigh) are presented, with the pathologic findings. The clinical features in 50 cases from the literature are summarized. It would appear that this is primarily a disease of infancy which follows a subacute course and affects males and females equally. Early symptoms include weakness, anorexia, incoördination, and abnormal eye movements; later, there are episodes of respiratory difficulty, emesis and convulsions. The signs of this disorder include abnormalities of eye movements and pupillary responses and optic atrophy. Hypotonia, ataxia and Babinski's sign also are present. The electroencephalogram is usually normal early in the course of the disease. Parenteral consanguinity and a relatively high incidence of affected siblings suggest an autosomal recessive mode of inheritance. A recently described feature of the disorder is increased serum pyruvate and lactate values. Etiologic mechanisms are discussed, with special attention being paid to possible enzymatic defects in pyruvate and lactate utilization. RÉSUMÉ Encéphalomyélopathie nécrosante de Leigh Trois cas d'encéphalomyélopathie nécrosante de Leigh sont décrites, avec leurs caractères pathologiques. Les auteurs résument les signes cliniques observés dans les 50 cas publiés dans la littérature. II apparaitrait qu'il s'agit avant tout d'une maladie de la premièrs enfance à la suite d'un état sub‐aigu et frappant également filles et garçons. Les premiers symptomes sont marqués par une faiblesse générate, de l'anorexie, de l'incoordination et des mouvements oculaires anormaux. Plus tard, on observe des episodes d'insufnsance respiratoire, des vomissements et des convulsions. Sont encore inclus dans le tableau clinique des anomalies des mouvements oculaires et du réflexe pupillaire ainsi qu'une atrophie optique. On peut encore noter une hypotonie, une ataxie et un signe de Babinski. Un taux élevé de consanguinité parentale et de cas familiaux suggère l'existence d'une affection héréditaire à transmission récessive autosomale. L'EEG est généralement normal au début de l'affection. On a précisé récemment comme caractéristiques une augmentation du taux sérique des acides pyruvique et lactique. Le mécanisme étiologique est discuté en particulier du point de vue de l'action possible d'une déficience enzymatique dans l'utilisation des acides pyruvique et lactique. ZUSAMMENFASSUNG Nekrotisierende Encephalomyelopathie (Leigh) Drei Fälle von Nekrotisierender Encephalomyelopathie (Leigh) werden mit den pathologischen Befunden beschrieben. Die klinischen Erscheinungen von 50 Fällen werden aus der Literatur zusammengefaßt. Es scheint, daß es sich dabei hauptsächlich um eine Erkrankung des Kindesalters handelt mit einem subakuten Verlauf, die Knaben und Mädchen gleichermaßen betrifft. Zu den frühen Symptomen gehören Schwäche, Appetitlosigkeit, unkoordinierte und abnorme Augenbewegungen; später kommt es zu Zuständen von Atembeschwerden, Erbrechen und Krämpfen. Abnorme Augenbewegungen und Pupillenreflexe gehören ebenso z...

show abstract

Section: Etiologic Mechanismsmentioning

confidence: 91%

Necrotizing Encephalomyelopathy (Leigh)

David

Gomez²,

Okazaki

1970

Develop Med Child Neuro

View full text Add to dashboard Cite

show abstract

“…However, it is unlikely that the degenerative processes in the brain-stem would have been arrested, even if one had the capability of biochemically correcting the reported B6 and amine abnormalities. Furthermore, it is conceivable that these multiple enzymatic blockades, as reported in this paper and other studies (Greenhouse and Schneck 1968;Namiki, 1965;and Worsley et al, 1965), are the results of non-specific action of a substance or substances elaborated by the disease, capable of creating a massive breakdown in decarboxylating mechanisms everywhere. The evidence presented in this report indicates that the inhibition in decarboxylating systems might be due to impairment in catalytic utilization of vitamin B6 derivatives.…”

Section: Resultsmentioning

confidence: 52%

“…Among the possible biochemical abnormalities, thiamine deficiency (Leigh, 1951;Richter, 1957;Feigin and Woolf, 1954); impairments in thiamine utilization (Greenhouse and Schneck, 1968); chronic lactic acidosis (Namiki, 1965); elevated pyruvate level (Worsley, Brookfield, Elwood, Noble, and Taylor, 1965); and the presence of endogenously produced 'toxin' (Crome, 1964) have been reported. In this paper subnormalities in the activity of the enzymes decarboxylating 5-hydroxytryptophan, glutamic acid, and taurine, as well as impairment in utilization ofvitamin B6 derivatives, are reported.…”

mentioning

confidence: 99%

Impairment of pyridoxal phosphate dependent metabolic reactions in a child with subacute necrotizing encephalopathy.

Ebadi¹,

Bostad²,

Pellegrino³

1969

Journal of Neurology, Neurosurgery & Psychiatry

View full text Add to dashboard Cite

“…Familial incidence of the disease has also been reported by Namiki (1965) and Richter (1957). More recently, Greenhouse and Schneck (1968), after studying one case for metabolic defects related to thiamine deficiency and reviewing the literature of reported cases where lactic acid and pyruvic acid were found elevated, concluded that at the present time evidence for thiamine deficiency or lack of thiamine utilization in carbohydrate metabolism cannot be implicated as a cause of the disease. The authors sugge3t the need for detailed examination of the carbohydrate pathways of metabolism in an extensive manner in the hope of possibly realizing the causative metabolic factor.…”

Section: Discussionmentioning

confidence: 55%