Brown-Vialetto-van Laere syndrome; the first Turkish case.
نویسندگان
چکیده
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 bilateral facial weaknesss, atrophic tongue with fasciculations, poor gag reflex, deafness, axial and appendicular hypotonia, severe muscular weakness involving muscles of neck, shoulder, and upper arms, hands with thenar and hypothenar amyotrophy. Hearing loss was documented by brainstem auditory evoked potentials. Other laboratory investigations, screening tests and imaging studing were normal. These clinical features are consistent with the Brown-Vialetto-van Laere syndrome.
منابع مشابه
مروری 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 کاملA Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in SLC52A3 Gene
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متن کاملPontobulbar 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...
متن کاملA Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance.
We report the first Brazilian family with Brown-Vialetto-van Laere syndrome. The presence of consanguineous marriages and illness affecting three sisters and one niece support an autosomal recessive transmission. The age at onset of the illness ranged from 12 to 20 years old. The time interval between hearing loss and involvement of other cranial nerves varied from 3 to 12 years. MRI demonstrat...
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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ورودعنوان ژورنال:
- Acta neurologica Belgica
دوره 104 3 شماره
صفحات -
تاریخ انتشار 2004