منابع مشابه
Arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones.
Two male cousins are reported with arachnodactyly, selective aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones, and a distant female relative with similar abnormalities. The syndrome is thought to be previously undescribed, though it has resemblances to Marinesco-Sjögren and Marfan's syndromes.
متن کاملCongenital ataxia due to cerebellar malformation presenting with unilateral hypoplasia.
A ten-year-old girl presented with an eight-year history of non-progressive gait instability, frequent falls, and delayed learning skills since the first year. There was no consanguinity. Neurological examination showed gait ataxia, cognitive impairment, and horizontal gaze palsy. Renal and hepatic tests were normal. Brain Magnetic Resonance Imaging (MRI) showed left cerebellar hypoplasia (Figu...
متن کاملAcute cerebellar ataxia.
Acute cerebellar ataxia occurring in childhood is a definite clear-cut syndrome, yet only three cases appear to have been reported in the British literature (Batten, 1907; Taylor, 1913), although more recently cases with similar features have been included in wider surveys on encephalitis by Brewis (1954) and on ataxia by Shanks (1950). Typically the clinical picture is characterized by the sud...
متن کاملA case of Cerebellar Ataxia
The patient denied any headaches, vertigo, weakness, confusion, bowel or bladder dysfunction and the unsteadiness was independent of position. Bowel movements were normal and he reported no other symptoms of abdominal pathology. The patient drank on average 10 units of alcohol a week and reported no recent increase in consumption. He was a life-long non-smoker, and denied any recent symptoms of...
متن کاملLocomotor patterns in cerebellar ataxia.
Several studies have demonstrated how cerebellar ataxia (CA) affects gait, resulting in deficits in multijoint coordination and stability. Nevertheless, how lesions of cerebellum influence the locomotor muscle pattern generation is still unclear. To better understand the effects of CA on locomotor output, here we investigated the idiosyncratic features of the spatiotemporal structure of leg mus...
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ژورنال
عنوان ژورنال: The Journal of Nervous and Mental Disease
سال: 1915
ISSN: 0022-3018
DOI: 10.1097/00005053-191510000-00011