title: Congenital bilateral perisylvian syndrome with partial epilepsy. Case report with long-term follow-up.
abstract: Congenital bilateral perisylvian syndrome (CBPS) is a rare neurological disorder characterised by pseudobulbar palsy, cognitive deficits and epilepsy associated with bilateral perisylvian cortical dysplasia on neuroimaging studies. We report a long-term follow-up of a 18-years girl diagnosed with CBPS according to the typical clinical and magnetic resonance imaging (MRI) features. The patient showed faciopharyngoglossomasticatory diplegia, severe dysarthria, ataxia, spastic quadriparesis and severe mental retardation. Brain MRI evidenced bilateral perisylvian cortical dysplasia. Since early life she suffered from complex febrile seizures and epilepsy consisting of complex partial attacks with affective manifestations associated with centro-temporal EEG abnormalities. During 18 years of follow-up she was treated with phenobarbital, carbamazepine, lamotrigine, gabapentin but did not show any significant clinical improvement. Subsequently, monotherapy with phenytoin (PHT) was followed by a significant clinical improvement. At age 17, because of adverse effects, PHT was gradually substituted by topiramate (TPM). Full control of seizures was obtained at the age of 17 years with TPM. EEG abnormalities throughout the years have been reduced according to the clinical course. These findings emphasised the importance of long-term follow-up, suggesting that the prognosis for epilepsy may not be predicted based on the early response to treatment or on the presence of structural encephalic abnormalities, as reported in the literature.
authors.affiliation: Sezione di Neuropsichiatria Infantile, Dipartimento di Scienze Neurologiche e Psichiatriche, Università degli Studi, Azienda Ospedaliera Policlinico, Piazza Giulio Cesare, CP 70124 Bari, Italy. l.margari@neurol.uniba.it
authors.forename: Lucia
authors.initials: L
authors.lastname: Margari
authors.forename: Margari
authors.initials: M
authors.lastname: Lucia
authors.forename: Anna
authors.initials: A
authors.lastname: Presicci
authors.forename: Presicci
authors.initials: P
authors.lastname: Anna
authors.forename: Patrizia
authors.initials: P
authors.lastname: Ventura
authors.forename: Ventura
authors.initials: V
authors.lastname: Patrizia
authors.forename: Maura
authors.initials: M
authors.lastname: Buttiglione
authors.forename: Buttiglione
authors.initials: B
authors.lastname: Maura
authors.forename: Cosma
authors.initials: C
authors.lastname: Andreula
authors.forename: Andreula
authors.initials: A
authors.lastname: Cosma
authors.forename: Tommaso
authors.initials: T
authors.lastname: Perniola
authors.forename: Perniola
authors.initials: P
authors.lastname: Tommaso
mesh_terms: D000293:Adolescent; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology*; D004569:Electroencephalography; D004828:Epilepsies, Partial / Q000188:drug therapy / Q000209:etiology* / Q000503:physiopathology*; D005260:Female; D005500:Follow-Up Studies; D005632:Fructose / Q000031:analogs & derivatives* / Q000627:therapeutic use; D005917:Globus Pallidus / Q000002:abnormalities / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D009421:Nervous System Malformations / Q000150:complications* / Q000473:pathology / Q000503:physiopathology*; D010672:Phenytoin / Q000009:adverse effects; D020828:Pseudobulbar Palsy / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D011782:Quadriplegia / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D013577:Syndrome; D000077236:Topiramate; D016896:Treatment Outcome
chemical_list: D000077236:Topiramate; D005632:Fructose; D010672:Phenytoin