The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives
نویسندگان
چکیده
منابع مشابه
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives
The Brown-Vialetto-Van Laere syndrome is a rare neurological disorder which may present at all ages with sensorineural deafness, bulbar palsy and respiratory compromise. Fazio-Londe syndrome is considered to be the same disease entity. Recently it was demonstrated that in some patients the disease is caused by mutations in the SLC52A3 gene which encodes the intestinal (hRFT2) riboflavin transpo...
متن کاملBrown-Vialetto-Van Laere syndrome
The Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. Fifty-eight cases have been reported in just over 100 years. The female to male ratio is approximately 3:1. The age of onset of the initial symptom varies from infancy to the third decade. The syndrome most frequently presents with s...
متن کاملBrown-Vialetto-van Laere syndrome; the first Turkish case.
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...
متن کاملمروری برسندرم Brown-Vialetto-Van Laere و تشخیص‌های افتراقی آن
زمینه: سندرم Brown-Vialetto-Van Laere یکی از بیماری‌های تحلیل برنده نورولوژیک است که جزء اختلالات نورون حرکتی طبقهبندی می‌شود. این سندرم به‌لحاظ اپیدمیولوژیک نادر بوده اما در مناطق مختلف دنیا گزارش شده است. تظاهر بیماری اغلب به‌صورت کاهش شنوایی دوطرفه و فلج پیشرونده پونتوبولبر است. درگیری بخش موتور اعصاب کرانیال تحتانی نیز دیده می‌شود. تشخیص بر اساس یافته‌های بالینی و الکتروفیزیولوژی و رد نمود...
متن کاملbrown-vialetto-van laere syndrome: report of five iranian cases
brown-vialetto-van laere syndrome (bvvls) is a rare neurological disorder of unknown etiology considered to be a form of motor neuron diseases. this syndrome is characterized by bilateral deafness and involvement of lower cranial nerves, especially 7th-12th. umn signs are less frequent. until 2007, only fifty eight cases were reported. half of the reported cases were sporadic. in the remaining ...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2012
ISSN: 1750-1172
DOI: 10.1186/1750-1172-7-83