AUTHOR=Anwár García , Elma Paredes-Aragón , Adib Jorge-de Saráchaga , Ilse Meyer-Nava , Alonso Gutiérrez-Romero , Ciltlaltepelt Salinas Lara , Alma Novelo Soto , Elisa Vega Memije Maria , Antonio Arauz 

TITLE=Blue Rubber Bleb Nevus Syndrome With Multiple Cavernoma-Like Lesions on MRI: A Familial Case Report and Literature Review

JOURNAL=Frontiers in Neurology

VOLUME=Volume 11 - 2020

YEAR=2020

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2020.00176

DOI=10.3389/fneur.2020.00176

ISSN=1664-2295

ABSTRACT=Blue rubber bleb nevus syndrome (BRBNS), also called Bean syndrome, is a rare disease associated with multiple venous malformations in the skin and the gastrointestinal tract. It rarely affects the central nervous system (CNS) and manifests with highly variable clinical presentations, most of them unspecified. Along with dermatological lesions, the first clinically visible manifestations of the syndrome are the appearance of skin-colored compressible protuberances or dark blue venous nodules, which present before gastrointestinal or neurological symptoms (34,35).
We report two cases of BRBNS, one in a father and the other in his son. The father presented with sudden speech arrest, left facial palsy and difficulty in swallowing. He had been diagnosed with epilepsy at age 20, which was misdiagnosed as neurocysticercosis, and had a family history of epilepsy. The second case presented with dermatological lesions that provided the clinical clue needed to make a diagnosis.