Brown-Vialetto-Van Laere syndrome: a novel diagnosis to a common presentation
نویسندگان
چکیده
منابع مشابه
Brown-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 کاملA Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in SLC52A3 Gene
Brown-Vialetto-Van Laere syndrome is a rare disorder characterized by motor, sensory, and cranial neuronopathies, associated with mutations in SLC52A2 and SLC52A3 genes that code for human riboflavin transporters RFVT2 and RFVT3, respectively. The authors describe the clinical course of a 6-year-old girl with Brown-Vialetto-Van Laere syndrome and a novel homozygous mutation c.1156T>C in the SLC...
متن کاملLate-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family
Riboflavin transporter deficiency (formerly known as Brown-Vialetto-Van Laere [BVVL] or Fazio-Londe syndrome) is a neurodegenerative disorder characterized by progressive bulbar palsy with sensorineural deafness or bulbar hereditary neuropathy. It is caused by mutations in the riboflavin transporter genes SLC52A2 (RFVT2) or SLC52A3 (RFVT3). It is a rare syndrome with approximately 70 cases repo...
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...
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ژورنال
عنوان ژورنال: BMJ Case Reports
سال: 2018
ISSN: 1757-790X
DOI: 10.1136/bcr-2018-224958