Cor pulmonale in a patient with Brown–Vialetto–Van Laere syndrome: A case report

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• 作者：Francisco Pereira da Silva-Jú ; nior ; Rafael de Deus Moura ; Sé ; rgio Rosemberg ; Paulo Eurí ; pedes Marchiori ; Luiz Henrique Martins Castro
• 关键词：Brown– ; Vialetto– ; Van Laere ; Pulmonary heart disease ; Motor neuron disease
• 刊名：Journal of the Neurological Sciences
• 出版年：2011
• 出版时间：15 January 2011
• 年：2011
• 卷：300
• 期：1-2
• 页码：155-156
• 全文大小：118 K

文摘

Brown–Vialetto–Van Laere syndrome (BVVLS) is a rare neurological disease characterized by sensorineural hearing loss and multiple cranial nerve palsies, usually involving the VIIth and IXth to XIIth cranial nerves. We describe the clinical and pathological features of a 33-year-old woman with BVVLS. The patient developed progressive exertional dyspnea, with clinical and laboratory findings of right-sided heart failure and pulmonary hypertension. She developed status epilepticus in the setting of cardiac deterioration and respiratory infection, and died of cardiogenic and septic shock. Autopsy disclosed bilateral neuronal loss and gliosis in the inferior colliculi, locus coeruleus and facial and vestibular nuclei. Cor pulmonale is a complication of hypoventilation-induced hypoxia and hypercapnia and had not yet been reported in BVVLS.