Isabelle Gourfinkel-An1,2, Vincent Navarro3,4,5,6, Geoffroy Vellieux1,2, Valerio Frazzini1,2,7, Phintip Pichit1, Sophie Dupont1,2,8,7. 1. AP-HP, Epilepsy Unit, GH Pitié-Salpêtrière-Charles Foix, 47-83 Boulevard de l'Hôpital, 75013, Paris, France. 2. Reference Center for Rare Epilepsies, Pitié-Salpêtrière Hospital, Paris, France. 3. AP-HP, Epilepsy Unit, GH Pitié-Salpêtrière-Charles Foix, 47-83 Boulevard de l'Hôpital, 75013, Paris, France. vincent.navarro@aphp.fr. 4. Reference Center for Rare Epilepsies, Pitié-Salpêtrière Hospital, Paris, France. vincent.navarro@aphp.fr. 5. Sorbonne Université, Paris, France. vincent.navarro@aphp.fr. 6. Paris Brain Institute ICM, Inserm, CNRS, Sorbonne Université, 75013, Paris, France. vincent.navarro@aphp.fr. 7. Paris Brain Institute ICM, Inserm, CNRS, Sorbonne Université, 75013, Paris, France. 8. Sorbonne Université, Paris, France.
Abstract
BACKGROUND: Sturge-Weber syndrome (SWS) is a neurocutaneous disorder caused by a somatic mutation in the GNAQ gene, leading to capillary venous malformations with neurological, ocular, and cutaneous abnormalities. Descriptions of adult and elderly patients with SWS are scarce compared to those of neonates or children. METHODS: We reviewed clinical, neuro-radiological and electroencephalographical findings of adult patients diagnosed with SWS, treated in our tertiary center for rare epilepsies. RESULTS: Ten adult patients were identified with a median age of 48 years at inclusion. All patients had seizures, with features of temporal lobe involvement for five patients. One patient presented typical drug-resistant mesial temporal seizures with ipsilateral hippocampal sclerosis and leptomeningeal enhancement, and was treated surgically. Other patients presented typical neurological and brain imaging features found in SWS. One patient without visible leptomeningeal angioma or brain calcifications presented neurological symptoms (tonic-clonic generalized seizures) for the first time at the age of 56. Two of the oldest patients in our cohort with supratentorial leptomeningeal angioma displayed contralateral cerebellar atrophy, consistent with crossed cerebellar diaschisis. Over 70 years of follow-up data were available for one patient whose epilepsy started at the age of 6 months, offering a vast overview of the course of SWS, in particular the onset of dementia and contralateral micro-bleeds in relation to the leptomeningeal angioma. CONCLUSION: The long follow-up of our cohort allows for a description of the course of SWS and a characterization of uncommon neurological features in adult and elderly patients.
BACKGROUND: Sturge-Weber syndrome (SWS) is a neurocutaneous disorder caused by a somatic mutation in the GNAQ gene, leading to capillary venous malformations with neurological, ocular, and cutaneous abnormalities. Descriptions of adult and elderly patients with SWS are scarce compared to those of neonates or children. METHODS: We reviewed clinical, neuro-radiological and electroencephalographical findings of adult patients diagnosed with SWS, treated in our tertiary center for rare epilepsies. RESULTS: Ten adult patients were identified with a median age of 48 years at inclusion. All patients had seizures, with features of temporal lobe involvement for five patients. One patient presented typical drug-resistant mesial temporal seizures with ipsilateral hippocampal sclerosis and leptomeningeal enhancement, and was treated surgically. Other patients presented typical neurological and brain imaging features found in SWS. One patient without visible leptomeningeal angioma or brain calcifications presented neurological symptoms (tonic-clonic generalized seizures) for the first time at the age of 56. Two of the oldest patients in our cohort with supratentorial leptomeningeal angioma displayed contralateral cerebellar atrophy, consistent with crossed cerebellar diaschisis. Over 70 years of follow-up data were available for one patient whose epilepsy started at the age of 6 months, offering a vast overview of the course of SWS, in particular the onset of dementia and contralateral micro-bleeds in relation to the leptomeningeal angioma. CONCLUSION: The long follow-up of our cohort allows for a description of the course of SWS and a characterization of uncommon neurological features in adult and elderly patients.
Authors: L Ferrari; E Coppi; F Caso; R Santangelo; L S Politi; V Martinelli; G Comi; G Magnani Journal: Neurol Sci Date: 2011-10-22 Impact factor: 3.307
Authors: Matthew D Shirley; Hao Tang; Carol J Gallione; Joseph D Baugher; Laurence P Frelin; Bernard Cohen; Paula E North; Douglas A Marchuk; Anne M Comi; Jonathan Pevsner Journal: N Engl J Med Date: 2013-05-08 Impact factor: 91.245