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Master Thesis

Syndrome de Sturge-Weber : optimisation du diagnostic précoce de l'angiome pial et recherche de facteurs prédictifs électroencéphalographiques du développement de l'épilepsie

Abstract : Purpose: Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by a facial port-wine stain, a glaucoma and a leptomeningeal angioma. Early diagnosis is thought to be complicated by the low sensitivity of MRI in neonates. Epilepsy occurs in more than 75% of affected children at the median age of 6 months and is associated with a poor neurological prognosis. Objectives: in a first study, we assessed the diagnostic accuracy of a routine MRI protocol in detecting of the leptomeningeal angioma in neonates with a facial port-wine stain. In a second study, we aimed to identify predictive markers of epilepsy on electroencephalogram (EEG) performed prior to the onset of seizures in children with SWS. Methods: in the first study, direct and indirect signs of leptomeningeal angioma were screened on a first MRI performed before 3 months old in children with a facial port-wines stain suspected of SWS and compared with a second MRI after 9 months, considered as the gold standard. In the second study, we described EEG features performed prior to seizures onset in children with a diagnosis of SWS. Results: Thirty children were included in the first study. Thirteen patients had a diagnosis of SWS confirmed by the second MRI. Eleven of them had a leptomeningeal enhancement on the first MRI of whom 10 presented indirect signs. The presence of direct or at least one indirect sign of the leptomeningeal angioma on the first MRI was associated with a sensitivity of 100% and a specificity of 94%. Eleven children were included in the second study. The EEG was performed at the median age of 2,1 months and 6 children developed seizures. Interictal epileptiform abnormalities were exclusively recorded in patients who developed later epilepsy (n=4). Conclusion: all neonates with facial port-wine stain should have a cerebral MRI during the first months of life in search of a leptomeningeal angioma, along with an EEG which could help to identify patients at high risk of epilepsy.
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-01675326
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Claire Bar Maillet. Syndrome de Sturge-Weber : optimisation du diagnostic précoce de l'angiome pial et recherche de facteurs prédictifs électroencéphalographiques du développement de l'épilepsie. Médecine humaine et pathologie. 2017. ⟨dumas-01675326⟩

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