A CASE OF STURGE-WEBER SYNDROME
Autor: | Vlad Claudiu Stefanescu, Daniela Trasca, Inimioara Mihaela Cojocaru, Bucharest Pharmacy |
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Rok vydání: | 2015 |
Předmět: |
encephalo-trigeminal angiomatosis
Hyperostosis medicine.medical_specialty Ataxia lcsh:R Sturge–Weber syndrome lcsh:Medicine Anatomy Angiomatosis medicine.disease lcsh:RC346-429 Surgery Angioma sturge-weber syndrome Neurology Frontal lobe medicine Neurology (clinical) medicine.symptom Psychology lcsh:Neurology. Diseases of the nervous system seizures Rare disease Paresis |
Zdroj: | Romanian Journal of Neurology, Vol 14, Iss 1, Pp 46-50 (2015) |
ISSN: | 2069-6094 1843-8148 |
DOI: | 10.37897/rjn.2015.1.7 |
Popis: | 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. |
Databáze: | OpenAIRE |
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