Romanian Journal of Neurology, Volume XIV, No. 1, 2015
ISSN 1843-8148  |  e-ISSN 2069-6094
ISSN-L 1843-8148
DOI: 10.37897/RJN


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Encephalo-trigeminal angiomatosis of Sturge-Weber-Krabbe-Dimitri is a rare hereditary sporadic facomatosis, characterized by the presence of angiomatosis of brain lining vessels, face and eye capillaries. We present the case of a 25-year old girl with a birth mark, an facial angioma localized in the territory of the right ophthalmic nerve, also since she had 4 months, she presents generalized tonic-clonic seizures, for which she is currently under treatment with Levetiracetam 1000 mg/day, Lamotrigine 100 mg/day, Valproic Acid 1500 mg/day and Clonazepam 2 mg/day. She was hospitalized because of the higher incidence of the seizures, despite the treatment that she performs. Physical examination revealed her facial angioma, a facial dysmorphism, gingival hypertrophy with sharp teeth, and she has an upper limb asymmetrical development. The neurological exam reveals central facial paresis, a rough motor deficit on her left side, increased tendon reflexes on the left side, left limb ataxia, and a minor cognitive disorder. The cerebral CT identified cortical asymmetry with right frontal atrophy, gyriform calcifications and frontal hyperostosis. The brain MRI showed hemihypotrophia of the right cerebral hemisphere, especially regarding the frontal lobe, gyriform calcifications on the right side, hypertrophy of the right frontal sinus. We increased the dosage of antiepileptic drugs, to 1500 mg/day of Levetiracetam and 200 mg/day of Lamotrigine. The outcome was favorable, the patient was seizures-free. The particularity of the case is that being a rare disease, it is easily overlooked, although the patient had classic symptoms and imagistic findings for Sturge-Weber-Krabbe disease.

Keywords: Encephalo-trigeminal angiomatosis, Sturge-Weber syndrome, seizures

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