Table 1.

Summary of Blue Rubber Bleb Nevus Syndrome Associated with Central Nervous System (CNS) involvement.

Clinical neurological features	Imaging findings	Systemic features	Gender/age	References
• Seizures • Chronic Headache • Vertigo • Motor weakness • Neck pain • Cognitive impairment • Cerebellar ataxia • Tinnitus • Cortical syndromes	Brain/spinal developmental vascular anomalies • Venous thrombosis • Non-cavernomatous venous malformations (telangiectasias, dural arteriovenous fistula, hemangiomas, angiomas) • Multiple brain cavernomas • Saccular aneurysms	• Multiple blackish-to-bluish rubbery cutaneous lesions • Skeletal anomalies • GI vascular malformations • Intussusception • Anemia • Gastrointestinal hemorrhage	F/ Mean age 41y 8 M/ Mean age 35y	(9) (10) (11) (12) (13) (14) (15) (16) (17) (18) (19) (4) (20) (21) (22) (23)
• Tinnitus • Chronic headache • Reduced hearing	• Type I Chiari malformation with tonsillar descent to the mid-C2 vertebra • Syringomyelia • Abnormal venous drainage	• Ventral septal defect at birth • Multiple blackish-to-bluish rubbery cutaneous lesions	F/14y M/26y	(24) (25)
• Orbital proptosis • Diplopia • Cranial nerve palsies	Brain developmental vascular anomalies • Non-cavernomatous venous malformations	• Multiple blackish-to-bluish rubbery cutaneous lesions • GI vascular malformations	M/75Y	(26)
Unspecified tumors/Neoplasia	Brain/spinal developmental vascular anomalies • Extradural masses at T2-T3, T5-T6 • Macrocystic encephalomalacia	• Multiple blackish-to-bluish rubbery cutaneous lesions • Bladder and bowel abnormalities • Sensitive symptoms • Backpain • Weakness • Anemia • Gastrointestinal hemorrhage	M/70y M/13y	(27) (28)