Amaurotic Idiocy and Epilepsy

Abstract

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...

Progressive Myoclonus Epilepsy as an Inborn Error of Metabolism Comparable to Storage Disease

“…The observation of storage in the nervous system and in the visceral organs of our patients invites comparison of progressive myoclonus epilepsy with other forms of storage diseases. The presence of important epileptic symptomatology, including myoclonic jerks, which appears early in the disease process, can also be observed in the late-infantile form of amaurotic idiocy (11). Nevertheless the absence ofhisto(-topo-)chemically detectable lipids in the storage cells of our patients contradicts classification of progressive myoclonus epilepsy with the lipidoses to which the amaurotic idiocy group belongs.…”

Progressive myoclonus epilepsy without Lafora bodies.

“…Irregular spike and slow wave activity occurred on flicker stimulation. (Edgar and Post, 1963;Klincken-Rasmussen and Dyggve, 1965), may rarely present in this way. When the pathology is known the great majority of patients with this syndrome either have Lafora inclusion bodies in the 119 :IFk;N A%V .…”