Presentation
The mean age at onset and presentation of neurological symptoms were 10.5 years and 19 years respectively. Patient 1 presented with bilateral optic atrophy, sensorineural deafness, cerebellar ataxia and neuropathy. [neurologyindia.com]
Vascular Ehlers-Danlos Syndrome With a Novel Missense COL3A1 Mutation Present With Pulmonary Complications and Iliac Arterial Dissection. Gu G, Yang H, Cui L, Fu Y, Li F, Zhou Z, Zheng Y. Gu G, et al. [pubmed.ncbi.nlm.nih.gov]
She also presented cerebral heterotopias that probably generated the seizure disorder. [seizure-journal.com]
She also presented seizures, aneurysms of the sinus of valsalva and severe panacinar emphysema. [ncbi.nlm.nih.gov]
Treatment
Indeed, in most cases, the treatment with different AEDs in patients without brain abnormalities obtained good results. [seizure-journal.com]
Recent reports challenge this treatment paradigm.73 In a randomized study, treatment with the beta-blocker Celiprolol was shown to be associated with a three-fold decrease in arterial rupture in vascular EDS.74 Novel approaches using endovascular therapy [ncbi.nlm.nih.gov]
Prognosis
A careful search may reveal asymptomatic and unrecognized abnormalities, which offer better explanations for the patient's symptoms and may alter prognosis. » References 1. Byers PH. Disorders of collagen biosynthesis and structure. [neurologyindia.com]
Long-term prognosis of patients with Ehlers-Danlos syndrome and epilepsy. Crossref PubMed Scopus (4) Google Scholar ]. [seizure-journal.com]
Pathophysiology
Furthermore, a high prevalence of ulnar nerve subluxation/luxation at the elbow was detected on dynamic ultrasound.107 The pathophysiological mechanism of peripheral neuropathy in EDS-HT seems related to the dislocations and subluxations due to ligament [ncbi.nlm.nih.gov]
Prevention
Cited by Comparative therapeutic strategies for preventing aortic rupture in a mouse model of vascular Ehlers-Danlos syndrome. [pubmed.ncbi.nlm.nih.gov]
Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial. Lancet. 2010;376(9751):1476–84. [PubMed] [Google Scholar] 76. [ncbi.nlm.nih.gov]