Long‐term prognosis of patients with Ehlers‐Danlos syndrome and epilepsy

Abstract

SUMMARYObjective: Epilepsy in Ehlers-Danlos syndrome (EDS) has been reported in the literature, but there are no studies that have investigated in detail clinical and electroencephalography (EEG) features in patients with EDS, and that have compared the outcome of epilepsy in subjects with or without brain lesions. We report a series of 42 patients with EDS and epilepsy, including data that concern clinical characteristics, EEG abnormalities, brain malformations at magnetic resonance imaging (MRI) and long-term outcome. Methods: EEG, clinical information, and neuroimaging characteristics in 42 patients with EDS were analyzed at the onset of epilepsy and after long-term follow-up (at least 5 years). We subdivided the patients into two groups: group A, 26 patients without brain abnormalities; group B, 16 patients with brain lesions, often with periventricular heterotopia (PH). Results: Group A patients: Most cases (19 of 26) presented focal epilepsy, whereas 7 of 26 were affected by generalized epilepsy; interictal EEG showed temporal or temporoparietal spikes in most cases. Twenty-three patients received antiepileptic drug (AED) monotherapy; three patients were treated with polytherapy. During follow-up, all patients were seizure-free for at least 2 years, and only one continued to receive AEDs. Group B patients: the majority presented focal epilepsy (9 of 16), but many patients had generalized epilepsy (7 of 16); interictal EEG showed usually frontal or frontotemporal spikes and waves. Many patients (12 of 16) received AED polytherapy. During followup, 12 patients were seizure-free, and all patients continued pharmacologic treatment. Significance: All patients without brain lesions showed a favorable response to AED monotherapy and were seizure-free after a few years of treatment. Patients with central nervous system abnormalities had a worse outcome, suggesting that the presence of brain lesions could influence the long-term evolution in these patients.

Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy

“…The different EDS subtypes are not usually associated with neurological symptomatology; brain MRI is typically unremarkable [3]. There are single reports on polymicrogyria [4–7], corpus callosum agenesis or hypoplasia [7, 8] periventricular heterotopia, ventricular dilatation or cerebral atrophy [7, 9] in hypermobile, classical, or unspecified EDS. Bi-allelic mutations in COL3A1 , encoding type III (pro) collagen, cause cobblestone-like cortical malformation and white matter changes [10–12], but these are not observed in vascular EDS caused by heterozygous COL3A1 mutations.…”

Ehlers-Danlos syndromes and epilepsy: An updated review

“…However, the pathological mechanisms leading to epilepsy are not clear: some authors hypothesised that the existence of brain lesions (e.g. PH or polymicrogyria) was considered the main cause [27]. Biochemical and genetic anomalies of the connective tissue probably underlie the pathogenesis of neurological manifestation of EDS.…”

“…After a long-term followup (at least five years), the outcome of epilepsy will be evaluated. Interestingly, the response to antiepileptic drug (AEDs) monotherapy was favorable in all individuals without brain lesions, whereas a worse outcome was observed in those with central nervous system (CNS) abnormalities, confirming that the epilepsy in the presence of cerebral structural anomalies is more frequent drug resistant [27].…”

Review of neurological aspects in a 3-month-old boy with Ehlers-Danlos syndrome (EDS) – case report

“…A. Verrotti et al [10] published an analysis of 42 cases of patients with Ehlers-Danlos syndrome and epilepsy, most of which, apart from three cases, were classic. Patients were subdivided into two groups: A -without brain abnormalities (26 cases) and B -with brain lesions (often with periventricular heterotopia -16 cases).…”