title: [Two siblings of galactosialidosis with marked progression of cardiac involvement during 10 years].
abstract: Two brothers, aged 34 and 30 showed signs of gargoylism, macular cherry-red spots, angiokeratoma, vertebral deformities, epilepsy, action myoclonus and ataxia. In 1985, they were diagnosed as juvenile galactosialidosis due to the decrease in activity of beta-galactosidase and neuraminidase when they had slight valvular involvement with mild heart murmur. On admission in 1994, their echocardiograms revealed marked progression of the cardiac involvement, i.e. thickening of the valvular and left ventricular wall with valvular regurgitation. These findings suggested that accumulation of abnormal materials was increased during the past 10 years. The change in the echocardiographic findings was more severe in the younger brother who had milder physical and neurological manifestations, although severity of neurological symptoms correlated with those of other symptoms in some reports. This study indicates that an evaluation in cardiac involvement may be very important in patients with galactosialidosis, even those with very mild neurological manifestations. Thus echocardiogram is very useful for this purpose.
authors.affiliation: Department of Neurology, University of Tsukuba.
authors.forename: S
authors.initials: S
authors.lastname: Hisahara
authors.forename: T
authors.initials: T
authors.lastname: Fujita
authors.forename: K
authors.initials: K
authors.lastname: Yoshizawa
authors.forename: H
authors.initials: H
authors.lastname: Mizusawa
authors.forename: S
authors.initials: S
authors.lastname: Shoji
mesh_terms: D000328:Adult; D018450:Disease Progression; D004452:Echocardiography; D006349:Heart Valve Diseases / Q000000981:diagnostic imaging / Q000209:etiology* / Q000235:genetics; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000150:complications* / Q000235:genetics; D008297:Male; D009439:Neuraminidase / Q000172:deficiency*; D009679:Nuclear Family; D013997:Time Factors; D001616:beta-Galactosidase / Q000172:deficiency*
chemical_list: D009439:Neuraminidase; D001616:beta-Galactosidase