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Journal of Child Neurology
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Epileptic Disorder as the First Neurologic Manifestation of Blue Rubber Bleb Nevus Syndrome

Jésus Eiris-Punal

Servicio de Neuropediatria Hospital Clinico-Universitario Santiago de Compostela Spain

Monica Picon-Cotos

Servicio de Neuropediatria Hospital Clinico-Universitario Santiago de Compostela Spain

Augusto Viso-Lorenzo

Departamento de Pediatria Hospital Cristal Pinor Orense, Spain

Manuel Castro-Gago

Servicio de Neuropediatria Hospital Clinico-Universitario Santiago de Compostela Spain

Blue rubber bleb nevus syndrome is an uncommon neurocutaneous disorder characterized by distinctive vascular malformations on the body surface. Vascular malformations of internal organs (typically the gastrointestinal tract) are also frequently present. However, malformations of the central nervous system have only rarely been described. We report a case of blue rubber bleb nevus syndrome in a 5-month-old boy with cutaneous manifestations characteristic of this process present from birth and multiple cerebral angiomas detected by magnetic resonance imaging. At age 11/2 months, the patient showed myoclonic seizures and complex partial seizures that were refractory to various antiepileptic regimens. At age 5 months, electroencephalograms (EEGs) showed continuous generalized slow spike-waves, predominantly in the right temporal region; however, EEGs normalized after induction of coma with intravenous midazolam. At age 13 months, the patient suffered from occasional seizures and slightly retarded psychomotor development. Epilepsy is rare in this syndrome but as in other neurocutaneous syndromes (eg, Sturge-Weber syndrome) can compromise psychomotor development; thus, every effort should be made to control seizures. (J Child Neurol 2002;17:219-222).

Journal of Child Neurology, Vol. 17, No. 3, 219-222 (2002)
DOI: 10.1177/088307380201700313
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