Brown-Vialetto-Van Laere syndrome.
Brown-Vialetto-Van Laere syndrome.
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DOI：
10.1186/1750-1172-3-9
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发表时间：
2008-04-17
影响因子：
3.7
通讯作者：
Sathasivam, Sivakumar
中科院分区：
文献类型：
--
作者：
Sathasivam, Sivakumar
Brown-Vialetto-Van Laere综合征(BVVL)是一种罕见的神经系统疾病，其特征是进行性脑桥球麻痹伴感音神经性耳聋。在短短100多年的时间里，已经报告了58例。女性与男性的比例约为3：1。初发症状的年龄从婴儿期到第三十年不等。该综合征最常见的表现为感觉神经性耳聋，通常是进行性的和严重的。下颅神经受累和下、上运动神经元肢体体征是常见的神经学特征。其他特征包括呼吸损害(最常见的非神经系统发现)，四肢无力，说话含糊，面部无力，以及颈部和肩部无力。视神经萎缩、视网膜色素变性、黄斑色素沉着、自主神经功能障碍、癫痫等均可发生。这种疾病的病因仍不清楚。大约50%的病例是家族性的，建议为常染色体隐性遗传。其余病例为零星病例。诊断通常基于临床表现。进行检查(神经生理学检查、脑磁共振成像、肌肉活检、脑脊液检查)以排除其他原因或确认临床结果。鉴别诊断包括Fazio-Londe综合征、肌萎缩侧索硬化症、Nathalie综合征、Boltshauser综合征和Madras运动神经元病。使用类固醇或静脉注射免疫球蛋白治疗可能导致综合征暂时稳定。然而，治疗的支柱是支持性和对症治疗，特别是辅助通风和通过胃造口术维持营养。BVVL的临床过程是多种多样的，包括逐渐恶化(几乎一半的病例)、逐渐恶化并在其间有稳定期(三分之一的病例)和恶化并突然恶化的时期(略低于五分之一的病例)。在最初的表现之后，三分之一的患者存活了十年或更长时间。
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 sensorineural deafness, which is usually progressive and severe. Lower cranial nerve involvement and lower and upper motor neuron limb signs are common neurological features. Other features include respiratory compromise (the most frequent non-neurological finding), limb weakness, slurring of speech, facial weakness, and neck and shoulder weakness. Optic atrophy, retinitis pigmentosa, macular hyperpigmentation, autonomic dysfunction, epilepsy may occur. The etiopathogenesis of the condition remains elusive. Approximately 50% of cases are familial, of which autosomal recessive is suggested. The remaining cases are sporadic. The diagnosis is usually based on the clinical presentation. Investigations (neurophysiological studies, magnetic resonance imaging of the brain, muscle biopsy, cerebrospinal fluid examination) are done to exclude other causes or to confirm the clinical findings. The differential diagnoses include the Fazio-Londe syndrome, amyotrophic lateral sclerosis, Nathalie syndrome, Boltshauser syndrome and Madras motor neuron disease. Treatment with steroids or intravenous immunoglobulin may result in temporary stabilization of the syndrome. However, the mainstays of management are supportive and symptomatic treatment, in particular assisted ventilation and maintenance of nutrition via gastrostomy. The clinical course of BVVL is variable and includes gradual deterioration (almost half of cases), gradual deterioration with stable periods in between (a third of cases) and deterioration with abrupt periods of worsening (just under a fifth of cases). After the initial presentation, one third of patients survive for ten years or longer.
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影响因子：
--
作者：
BRUCHER, JM;DOM, R;CARTON, H
通讯作者：
CARTON, H
影响因子：
1.4
作者：
Malheiros, José Augusto;Camargos, Sarah Teixeira;Cardoso, Francisco E.C.
通讯作者：
Cardoso, Francisco E.C.
影响因子：
4.4
作者：
Nalini, A.;Yamini, B. K.;Gope, R.
通讯作者：
Gope, R.
影响因子：
4
作者：
HAWKINS, SA;NEVIN, NC;HARDING, AE
通讯作者：
HARDING, AE
影响因子：
4
作者：
BOLTSHAUSER, E;LANG, W;HOF, E
通讯作者：
HOF, E