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Master Thesis

Syndrome de Sturge-Weber : une étude clinique, radiologique et électroencéphalographique d’une cohorte de dix patients adultes

Abstract : Background: Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder related to a somatic mutation in GNAQ gene. It combines neurologic, ocular and cutaneous symptoms at varying degrees. Neurologic features of SWS in adulthood is less well described than during childhood. The goal of this work is to study symptoms and long-term evolution of adult patients with SWS. Methods: adult patients with a diagnosis of SWS followed up in the Pitié-Salpêtrière epilepsy unit from 1987 to 2018 were included. Clinical, radiological and electroencephalographic (EEG) data were retrospectively collected. Results: ten patients were included, with a mean age of 50,1 years. Epilepsy, of variable severity, is present in all patients and the mean age at first seizure is 12,1 years. Patients show also headaches (n=4), focal neurologic deficits (n=4), cognitive impairment (n=6), mood-behavioural disorders (n=4) and stroke-like episodes (n=3). Brain imaging show leptomeningeal enhancement (n=7), cerebral calcifications (n=8) and cerebral atrophy (n=10). All patients who underwent EEG display an asymmetry of background amplitude. One patient had surgery for hippocampal sclerosis. All patients display a port-wine stain. Ocular involvement is seen in 6 patients. Conclusion: this study emphasizes the evolutivity and some rare features in adult patients with SWS. Recent genetic insights in SWS may pave the way for therapeutic improvements.
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-02303792
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Submitted on : Wednesday, October 2, 2019 - 3:48:59 PM
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Geoffroy Vellieux. Syndrome de Sturge-Weber : une étude clinique, radiologique et électroencéphalographique d’une cohorte de dix patients adultes. Médecine humaine et pathologie. 2018. ⟨dumas-02303792⟩

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