[Clinical and diagnostic considerations on degenerative spino-cerebellar diseases. A clinical and instrumental description of 2 cases].
Two cases of spino-cerebellar heredoataxia are reported. The first patient, aged 18, presented the clinical peculiarities of Friedreich's disease; subjected to encephalic CT and encephalomedullary NMR the proved normal; EMG study and visual, acoustic and somatosensorial evoked potentials were not normal but there was nothing specifically wrong. The second patient, aged 30, followed up for more than 10 years, presented the clinical aspects of Pierre Marie disease; stress is laid on encephalic CT examinations carried out at the age of 20 and 30. These were pathological due to the marked dilatation of the IVth ventricle and the basal cisternae; evoked potential changes were aspecific. The nosography is discussed, especially as regards clinical diagnosis, in the absence of typical neuroradiological or other instrumental aspects and, obviously, in the absence of anatomopathological signs.
Trebini
F
F
Divisione di Neurologia, Ospedale Mauriziano Umberto I, Torino.
Appiotti
A
A
Scarzella
G
G
D000328:Adult; D006801:Humans; D008297:Male; D013132:Spinocerebellar Degenerations / Q000175:diagnosis*
Considerazioni cliniche e diagnostiche sulle malattie degenerative spino-cerebellari. Descrizione clinica e strumentale di due casi.