نتایج جستجو برای: vialetto
تعداد نتایج: 62 فیلتر نتایج به سال:
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...
Brown-Vialetto-Van Laere syndrome was first described in 1894 as a rare neurodegenerative disorder characterized by progressive sensorineural deafness in combination with childhood amyotrophic lateral sclerosis. Mutations in the gene, SLC52A3 (formerly C20orf54), one of three known riboflavin transporter genes, have recently been shown to underlie a number of severe cases of Brown-Vialetto-Van ...
Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory problems leading to ventilator-dependence. Loss-of-function mutations in two riboflavin transporter genes, SLC52A2 and SLC52A3, have recently been linked to Brown-Vialetto-Van Laere syndrome. However, the genetic frequency, neuropat...
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...
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...
A Caucasian girl developed slowly progressive sensory neural deafness and bulbar and spinal muscle weakness typical of the Vialetto-Van Laere syndrome. As the condition progressed the major disabilities became dysphagia, respiratory muscle weakness and postural hypotension. Treatment with gastrostomy feedings, oxygen and fludrocortisone acetate produced worthwhile functional improvement.
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...
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...
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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