Cor pulmonale in a patient with Brown-Vialetto-Van Laere syndrome: a case report.
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.
Department of Neurology, Universidade de São Paulo, São Paulo, Brazil. franciscops@hotmail.com
Francisco Pereira
FP
da Silva-Júnior
Rafael de Deus
Rde D
Moura
Sérgio
S
Rosemberg
Paulo Eurípedes
PE
Marchiori
Luiz Henrique Martins
LH
Castro
D000328:Adult; D001921:Brain / Q000473:pathology; D010244:Bulbar Palsy, Progressive / Q000150:complications / Q000473:pathology; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000473:pathology; D006801:Humans; D009410:Nerve Degeneration / Q000150:complications; D011660:Pulmonary Heart Disease / Q000150:complications* / Q000473:pathology