Blue rubber bleb nevus syndrome with central nervous system involvement.
An 11-month-old female patient presented with focal seizures. She was born at term with multiple scattered tiny protuberances and dark purple soft compressible nevi over her entire body. She had clumsiness and decreased muscle power in her left extremities. Magnetic resonance imaging and magnetic resonance angiography revealed cerebral atrophy of the right central area around the anomalous venous sinus and multiple small enhancing lesions throughout the brain with gadolinium-diethylenetriamine pentaacetic acid enhancement. Despite right partial neonatal seizures, she had no further seizures for 3 years while receiving carbamazepine, and no change was observed in the number and size of the nevi. At last evaluation, language and psychomotor development were normal for her age.
Department of Pediatrics, Institute for Medical Science, Chonbuk National University Medical School, Chonju, Chonbuk, South Korea.
S J
SJ
Kim
D000927:Anticonvulsants / Q000627:therapeutic use; D001921:Brain / Q000473:pathology*; D002220:Carbamazepine / Q000627:therapeutic use; D002493:Central Nervous System Diseases / Q000150:complications* / Q000473:pathology; D004828:Epilepsies, Partial / Q000188:drug therapy / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging; D018329:Nevus, Blue / Q000150:complications*; D010291:Paresis / Q000209:etiology; D012878:Skin Neoplasms / Q000150:complications*; D013577:Syndrome
D000927:Anticonvulsants; D002220:Carbamazepine