Diffuse cerebral angiomatosis: a case report with fatal outcome

Abstract

Diffuse cerebral angiomatosis is a rare disorder of the brain and only 5 cases have been reported to date. We report a 16-year-old female patient who presented to the emergency department with seizures. The patient had no hereditary syndromes, no epistaxis, no skin lesions and no telangiectasia. There was no livedo reticularis. The ophthalmologic examination was within normal limits. Magnetic resonance angiography (MRA) showed multiple diffuse tortuous vessels all around the brain tissue and ventricular system. Brain CT showed multiple calcifications. Digital subtraction angiography (DSA) demonstrated multiple arteriovenous shunts and diffuse arteriovenous malformations (AVM) without a typical nidus, draining into dilated cerebral veins. Multimodal ultrasound showed increased flow velocities in all cerebral arteries. We report the case of a patient with diffuse cerebral angiomatosis. This is the third study in which hemodynamic indices were evaluated through transcranial Doppler. Unlike all other case reports our patient had a bad outcome with important disability, dementia and drug resistant epilepsy that lead to the patient’s death.HighlightsDiffuse cerebral angiomatosis is a rare disorder of the brain and only 5 cases have been reported to date.Unlike all other case reports our patient had a bad outcome with disability, dementia and drug resistant epilepsy that lead to the patient’s death.