[Blue rubber bleb nevus syndrome with CNS involvement].
We report a child with Blue Rubber Bleb Nevus Syndrome (BRBNS) and marked CNS-involvement and complex neurological impairment. Computed tomography showed intracerebral calcification and vascular malformations. The patient is microcephalic, his psychomotor development is delayed and he has a deficit of motor coordination and visual function. We know of only one report of a child with BRBNS and such CNS involvement.
Gallmann
T
T
Universitätskinderklinik Zürich.
Boltshauser
E
E
D001932:Brain Neoplasms / Q000175:diagnosis*; D006391:Hemangioma / Q000175:diagnosis*; D006392:Hemangioma, Cavernous / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis*; D009508:Nevus, Pigmented / Q000175:diagnosis*; D012878:Skin Neoplasms / Q000175:diagnosis*; D013577:Syndrome; D014057:Tomography, X-Ray Computed
Blue Rubber Bleb Naevus Syndrom mit ZNS-Beteiligung.