[Blue rubber bleb nevus syndrome with CNS involvement]

Area of Science:

• Neurology
• Pediatrics
• Medical Imaging

Background:

• Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare vascular malformation disorder.
• Central nervous system (CNS) involvement in BRBNS is uncommon but can lead to severe complications.
• Understanding the spectrum of BRBNS manifestations is crucial for early diagnosis and management.

Observation:

• A pediatric patient presented with Blue Rubber Bleb Nevus Syndrome (BRBNS).
• The patient exhibited significant central nervous system (CNS) involvement and complex neurological impairment.
• Clinical presentation included microcephaly, delayed psychomotor development, and deficits in motor coordination and visual function.

Findings:

• Computed tomography (CT) revealed intracerebral calcification and vascular malformations.
• The observed neurological deficits were marked and indicative of severe CNS compromise.
• This case represents one of the few documented instances of extensive CNS involvement in a child with BRBNS.

Implications:

• This case underscores the potential for severe neurological sequelae in BRBNS.
• Highlights the importance of neuroimaging in evaluating BRBNS patients with neurological symptoms.
• Further research is needed to elucidate the pathophysiology and optimal treatment strategies for CNS involvement in BRBNS.