RT Journal Article
SR Electronic
T1 Blue rubber bleb nevus syndrome associated with tuberous sclerosis complex and CNS involvement
JF Neurosciences Journal
JO Neurosciences (Riyadh)
FD Prince Sultan Military Medical City
SP 207
OP 211
DO 10.17712/nsj.2021.2.20200111
VO 26
IS 2
A1 Alreefi, Hajar
A1 AlKhateeb, Mashael
YR 2021
UL http://nsj.org.sa/content/26/2/207.abstract
AB Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder that is characterized by multiple dome-shaped cutaneous venous malformations on the skin and visceral organs. Typical extra-cutaneous lesions have the appearance of blueish nipple-shaped nodules that can easily compress and refill. We described a rare case of a 23-year-old female with BRBNS and tuberous sclerosis complex (TSC) that presented with central nervous system (CNS) involvement including unprovoked focal impaired awareness seizure. Her BRBNS presents with hemangiomas involving multiple organs in the body including the brain, gastrointestinal (GI) system, and skin. This case highlights the importance of studying and understanding the association between BRBNS and TSC as it may lead to improved understanding