Syndroma Brown-Séquard as a rare manifestation of von Hippel–/INS;Lindau disease

Abstract

Case report: We report a 45-year-old female patient with Brown-Séquard Syndrome (BSS). The onset of disease was 14 years before admission to our Department, during the first pregnancy, when she felt thoracic pain. Five years later, during the next pregnancy, she felt numbness at umbilical region and drop of right foot, but all symptoms disappeared spontaneously 10 days after delivery. MRI of thoracic spine showed syrinx from Th5 to /INS;L1. Now, at the admission neurological examination revealed spasticity, increased /INS;muscle reflexes and positive Babinski's sign on the right leg, with ipsilateral loss of tactile discrimination, vibratory, and position sensation below the level of right rib arch. Contralaterally there was reduction in pain and temperature sensation below /INS;the level of Th8. MRI of thoracic spine showed multiple intradural nodular tumors at the levels/INS; of Th3–/INS;5 and Th11 with hydrosyringomyelia in whole spinal cord. MRI of the brain showed multiple hemangioblastomas /INS;in the craniocervical region with spreading at the level of C1 and in both cerebellar hemispheres. Multi-slice computed tomography (MSCT) of abdomen showed multiple pancreatic cysts and suspected liver hemangioma/INS;. Ophthalmological/INS;, otological and gynecological findings were normal. Genetic analysis revealed/INS; a /INS;deletion in von Hippel–/INS;Lindau (VHL) gene 2 exon at codon 128. It was made a diagnosis of de novo VHL disease type I (without pheochromocytoma/INS;).