Die Ahornsirupkrankheit mit famili�rem Befall

Diezel, Paul Bernd; Martin, Konstantin

doi:10.1007/bf00957687

Cited by 27 publications

(4 citation statements)

References 21 publications

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“…It is also very likely that many of the nerve cells had disappeared in the cerebral cortex and subcortical formations, but such loss cannot always be ascertained by ordinary histological means. These changes are in general agreement with those reported in previous cases (Cronie, Dutton and Ross, 1961;Silbernian, Dancis and Feigin, 1961;Diezel and Martin, 1964). The lack of cerebral oedema (Dancis, Levitz and Westall, 1960), the severe degree of microencephaly and fibrous gliosis in this case as compared with those previously described may be related to the duration of the disease.…”

Section: Discussionsupporting

confidence: 93%

Maple Syrup Urine Disease

Voyce

Montgomery

Crome

et al. 1967

J intellect Disabil Res

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Section: Discussionsupporting

confidence: 93%

Maple Syrup Urine Disease

Voyce

Montgomery

Crome

et al. 1967

J intellect Disabil Res

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“…In maple syrup urine disease, for example, there is invariably pronounced vacuolation at all levels in the central nervous system, myelin loss with swelling of myelin sheaths but without the production of neutral fat, astrocyte proliferation, and an absence of neuronal and axonal damage (Crome et al, 1961;Silberman et al, 1961;Diezel and Martin, 1964;Menkes et al, 1965). In this communication severe spongioform change is described in an infant (case 3) with hyperglycinaemia.…”

Section: Discussionmentioning

confidence: 99%

“…The clinical and pathological features of the reported cases have been closely similar and a familial occurrence has been established; for these reasons it has been claimed that the disorder is a nosological entity (van Bogaert and Bertrand, 1967). However, a microscopic appearance in the central nervous system closely similar to that of van Bogaert and Bertrand's disease may be seen in association with some aminoacidurias-notably in maple syrup urine disease (Crome, Dutton, and Ross, 1961;Silberman, Dancis, and Feigin, 1961;Diezel and Martin, 1964;Menkes, Philippart, and Fiol, 1965) and in hyperglycinaemia (Donohue, 1967;Rushton, 1968).…”

mentioning

confidence: 89%

Spongy degeneration in the white matter of the central nervous system in the newborn: pathological findings in three infants, one with hyperglycinaemia.

Anderson¹

1969

Journal of Neurology, Neurosurgery & Psychiatry

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“…( I ) N o malformation has been found in I I autopsied cases of maple syrup disease hitherto recorded(Diezel and Martin 1964, Menkes et a/. 1965).…”

mentioning

confidence: 96%

Maple Syrup Urine Disease in an Infant with Microgyria

Martin

Norman

1967

Develop Med Child Neuro

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SUMMARY A female child aged 10 months at death had shown malformations and neurological abnormality from birth. She later became severely epileptic and developed opisthotonos. While in hospital the odour of maple syrup was detected in the urine and the presence of valine, leucine and isoleucine was demonstrated by chromatography. Neuropathological examination showed widespread micropolygyria of the cerebral cortex and an abnormal formation of myelinated fibres in the thalami. The fibres were regarded as a maldevelopment of the thalamic radiations and not as status marmoratus due to birth injury. There was a marked retardation in the myelination of the pes pontis, which was thought to be an effect of the metabolic disturbance of maple syrup urine disease. ZUSAMMENFASSUNG Die ‘Wacholder‐Syrup’‐Urinkrankheit bei einem Kinde mit Mikrogyrie in im Alter von 10 Monaten gestorbenes kleines Mädchen hatte von der Geburt an Malformationen und neurologische Añomalien aufgewiesen. Später wurde sie schwer epileptisch und entwickelte opisthotonos. Während sie im Krankenhaus war, entdeckte man den Geruch von Wacholder‐Syrup in ihrem Urin, und die Anwesenheit von Valin, Leucin und Isoleucin wurde durch Chromatographic festgestellt. Neuropathologische Untersuchung wies weitverbreitete Mikropolygyrie des Zerebral‐Cortex auf, sowie eine abnormale Formation von myelinierten Fibern in den Thalami. Diese Fibern wurden als eine fehlerhafte Entwicklung der thalamischen Radiationen angesehen, nicht als status marmoratus, welcher von Geburtsschaden verursacht gewesen wäre. Es trat auch eine auffallende Retardierung der Myelination des pes pontis auf, welche als eine Folge der metabolischen Stoning bzw. der Wacholder‐Syrup‐Urinkrankheit dargelegt wurde. RESUMEN Trabajo sobre la enfermedad “orina jarabe de arce‘ en los infantes Una niña que murió a los diez meses habia mostrado malformaciones y añormalidades neurológicas desde el nacimiento. Más tarde comenzó a padecer de una epilepsia grave y del opistotonos. En el hospital se observó que la orina tenia un fuerte olor de jarabe de arce, y se demostro por medio de una cromatografia la presencia de valina, leucina e isoleucina. Un examen neuropatológico reveló una micropoligiria extensa de la corteza cerebral, y una formatión añormal de fibras mielinicas en los talamos. Se consideraban estas como desarrollo añormal de las radiaciones talámicas y no como status marmoratus debido al parto. Había una retardatión importante de la mielinación del pes pontis, debida, segun se creia, al trastorno metabolico de la enfermedad ‘orina jarabe de arce’.

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Die Ahornsirupkrankheit mit famili�rem Befall

Cited by 27 publications

References 21 publications

Maple Syrup Urine Disease

Maple Syrup Urine Disease

Spongy degeneration in the white matter of the central nervous system in the newborn: pathological findings in three infants, one with hyperglycinaemia.

Maple Syrup Urine Disease in an Infant with Microgyria

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