[Familial olivopontocerebellar atrophy (Menzel type). Apropos of a family followed for 46 years].
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The Authors present the linked effects of the diseases of the choreaic, parkinsonian, spinalcerebral series with those disturbances of psychic and neurovegetative nature. The discuss the difficulties of nosological grouping that this type of case presents. They conclude by affirming that in hereditary generative illnesses, as a result of the infinite number of combinations of possible symptoms and of the existence of many subdued forms, it is often of little use a forced categorization of cases into a particular clinical form.
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Electrophysiological observations have been made on normal C57-BL/6J and staggerer mutant mice. Morphological observations have given evidence it existed various neurones modifications which affected the olfactory bulb in the mutant mice. Olfactory bulb electrocorticograms (ECoG) of mutant have shown rare bursts of potentials of longer time duration than in normal mice. These bursts were less affected by odor stimulations (ammonia and urine of opposite sexes) than in the normal mice and never varied under urine odor influence in female mutant. Evoked potential induced by the odors had long latency and long duration (up to 50 ms vs 30 ms). In a large amount of them, the late phases and the late oscillatory potentials, which generally followed the evoked potential, were absent. All these results improved the idea that staggerer mutation, which mainly affected the N-CAM gene, not only induced cerebellar diseases, but also functionally affects the olfactory bulb.
We present a case of cerebellar tumoral multiple sclerosis in an 11-year-old girl and emphasize these two features: (1) Tumoral multiple sclerosis can occur within the posterior fossa and should be strongly considered in the differential diagnosis of mass lesions of the posterior fossa when typical white matter lesions are seen on T2-weighted images. (2) Tumoral multiple sclerosis can demonstrate ring enhancement on MR.
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