نتایج جستجو برای: vialetto
تعداد نتایج: 62 فیلتر نتایج به سال:
Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in 1894, and subsequently called Brown-Vialetto-Van Laere syndrome, is characterized by progressive pontobulbar palsy, sensorineural hearing loss and respiratory insufficiency. There has been no treatment for this progressive neurodegenerative...
INTRODUCTION We report the first findings of functional magnetic resonance imaging of the auditory cortex in a young woman with a bilateral cochleovestibular deficit as first manifestation of Brown-Vialetto-Van Leare syndrome. The patient had no open speech discrimination, even with hearing aids, and is depending on lip reading for communication. METHODS To evaluate the possible efficiency of...
We describe a 14-year-old female patient with progressive ponto-bulbar palsy and deafness. The first symptom was present at the age of 9 as a difficulty in walking and then she was stable with mild clumsy walking till 14 year-old. It was noticed that she had rapidly progression gait disorder, hearing loss, difficulty in swallowing and speaking in a period of 2.5 months. Clinically, there were b...
Genetically targeted therapies for rare Mendelian conditions are improving patient outcomes. Here, we present the case of a 20-mo-old female suffering from a rapidly progressing neurological disorder. Although diagnosed initially with a possible autoimmune condition, analysis of the child's exome resulted in a diagnosis of Brown-Vialetto-Van Laere syndrome 2 (BVVLS2). This new diagnosis led to ...
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