Protracted disease course after deafness in a man with Brown-Vialetto-Van Laere syndrome.
نویسندگان
چکیده
Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare type of motor neuron disease, characterized by bilateral deafness, and multiple cranial nerve involvement. The disease is more frequent in females, but rapid deterioration was attributed to male gender or early onset. Herein, we report a man with BVVLS who had a longer than expected interval between onset of deafness and other motor symptoms that culminated to diagnosis. Six years later, he had gradual worsening and death. Along with potential new developing therapeutic options, this case emphasizes considering the diagnosis of BVVLS especially after a long period of stability, even in men.
منابع مشابه
Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance.
A female with the Brown-Vialetto-Van Laere syndrome is described. The patient's father, a paternal uncle, and possibly a paternal first cousin had neurosensory deafness and a paternal aunt had clinical symptoms indicative of the syndrome. This family raises the possibility that the disorder is genetically heterogeneous with autosomal recessive and autosomal dominant forms. Alternatively, it cou...
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The syndrome described by Brown(l) Vialetto(2) and Van Laere(3) is a rare, often familial, characterized by bilateral nerve deafness followed or accompanied by involvement of various motor cranial nerves, e.g., 7th and 9th to 12th, rarely 3rd, 5th and 6th. On rare occasions, there may also be involvement of spinal motor nerves and less commonly of upper motor neurons. The onset of the disease i...
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Brown-Vialetto-Van Laere syndrome is a rare neurological disorder with a variable age at onset and clinical course. The key features are progressive ponto-bulbar palsy and bilateral sensorineural deafness. A complex neurological phenotype with a mixed picture of upper and lower motor neuron involvement reminiscent of amyotrophic lateral sclerosis evolves with disease progression. We identified ...
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 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...
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عنوان ژورنال:
- Neurosciences
دوره 17 3 شماره
صفحات -
تاریخ انتشار 2012