Relations anatomocliniques et �lectroenc�phalopraphiques dans le groupe des idioties amaurotiques

Radermecker, J

doi:10.1007/bf00218643

Cited by 5 publications

(2 citation statements)

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“…Furthermore, theta and or delta rhythms occurred in all phases of the disease, mainly over parieto-occipital regions in the beginning and over other regions in later stages of the disease. This phenomenon has been reported by Cobb et al (1952), Crawley (1957), Ellingson and Schain (1969) and Radermecker (1952). At the same time, bitemporal foci occurred as sharp or spike waves or both.…”

Section: ) Neurophysiological Findingssupporting

confidence: 76%

Juvenile Type of Generalized Ceroid-Lipofuscinosis (Spielmeyer-Sjögren Syndrome) – I. Clinical findings

Elze¹,

Koepp²,

Lagenstein³

et al. 1978

Neuropediatrics

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Section: ) Neurophysiological Findingssupporting

confidence: 76%

Juvenile Type of Generalized Ceroid-Lipofuscinosis (Spielmeyer-Sjögren Syndrome) – I. Clinical findings

Elze¹,

Koepp²,

Lagenstein³

et al. 1978

Neuropediatrics

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“…Also the EEG is not specific enough for being used as a diagnostic aid in patients like case A2 in whom seizures were the only clinical manifestation of the disease. Cobb et al (9) described tri-phasic complexes which they consider more or less specific of cerebral lipidosis, but this specificity is disputed a.o., by Radermecker (28).…”

Section: Diagnosismentioning

confidence: 98%

Amaurotic Idiocy and Epilepsy

Edgar¹,

Post²

1963

Epilepsia

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SUMMARY The infantile form of amaurotic idiocy or Tay‐Sachs disease is separated from all other forms of amaurotic idiocy on the basis of neuropathological and biochemical aspects. Hexosamine estimations in the grey matter of 7 cases of Tay Sachs disease and of 7 cases of other forms of amaurotic idiocy show that ganglioside accumulation is a specific characteristic of Tay‐Sachs disease. The clinical aspects in 4 patients suffering from late‐infantile amaurotic idiocy, 3 patients suffering from the juvenile form of amaurotic idiocy and 3 patients suffering from abortive or chronic forms of amaurotic idiocy, are compared. Attention is called to the combination of myoclonus, mental disturbance and epilepsy, which characterizes the patients with non‐infantile amaurotic idiocy before the clinical onset of retinal pathology. The neuropathological aspects in 3 patients with juvenile amaurotic idiocy, 1 patient with late‐infantile amaurotic idiocy and 1 patient with chronic amaurotic idiocy without amaurosis are compared to descriptions available in the literature. The significance of epilepsy in amaurotic idiocy is discussed. Epileptic symptomatology is more prominent in amaurotic idiocy, other than Tay‐Sachs disease, than in Tay‐Sachs disease and in other forms of lipidosis. In the absence of a satisfactory anatomical explanation for this observation, it is tentatively suggested that epileptic symptomatology in non‐infantile amaurotic idiocy might be causally related to the error of metabolism, rather than to diffuse neuronal damage of the nervous system. RÉSUMÉ La forme infantile de l'idiotie amaurotique ou maladie de Tay‐Sachs est mise à part de toutes les autres formes d'idiotie amaurotique sur la base de ses aspects neuro‐pathologiques et biochimiques. Les estimations de l'hexosamine dans la substance grise de 7 cas de maladie de Tay‐Sachs et de 7 cas de formes autres d'idiotie amaurotique revelent qu'une accumulation de ganglioside est une caractéristique spécifique de la maladie de Tay‐Sachs. Les aspects cliniques de 4 malades atteints d'idiotie amaurotique infantile tardive, de 3 malades atteints de la forme juvénile d'idiotie amaurotique et de 3 malades présentant une forme abortive ou chronique d'idiotie amaurotique, sont l'objet d'une comparaison. Les auteurs appellent l'attention sur la combinaison de myoclonus, trouble mental et épilepsie, laquelle caractérise les patients ayant une idiotie amaurotique non‐infantile avant le début clinique de la pathologie rétinienne. Les aspects neuropathologiques présentés par 3 enfants atteints d'idiotie amaurotique juvénile, 1 malade ayant une idiotie amaurotique infantile tardive et 1 autre une idiotie amaurotique sans amaurose sont comparés avec des cas publicés dans la littérature. Discussion de la signification de l'épilepsie dans l'idiotie amaurotique. La symp‐tomatologie épileptique est plus importante dans l'idiotie amaurotique autre que la maladie de Tay‐Sachs, que dans la maladie de Tay‐Sachs et autres formes de lipidose. Une explication anatomique satis...

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Diebold

1973

Die Erblichen Myoklonisch-Epileptisch-Dementiellen Kernsyndrome

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Relations anatomocliniques et �lectroenc�phalopraphiques dans le groupe des idioties amaurotiques

Cited by 5 publications

References 2 publications

Juvenile Type of Generalized Ceroid-Lipofuscinosis (Spielmeyer-Sjögren Syndrome) – I. Clinical findings

Juvenile Type of Generalized Ceroid-Lipofuscinosis (Spielmeyer-Sjögren Syndrome) – I. Clinical findings

Amaurotic Idiocy and Epilepsy

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