PT  - JOURNAL ARTICLE
AU  - Hajar Alreefi
AU  - Mashael AlKhateeb
TI  - Blue rubber bleb nevus syndrome associated with tuberous sclerosis complex and CNS involvement
AID  - 10.17712/nsj.2021.2.20200111
DP  - 2021 Apr 01
TA  - Neurosciences Journal
PG  - 207--211
VI  - 26
IP  - 2
4099  - http://nsj.org.sa/content/26/2/207.short
4100  - http://nsj.org.sa/content/26/2/207.full
SO  - Neurosciences (Riyadh)2021 Apr 01; 26
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