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Available from: Marisol E Otero, Nov 26, 2014
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    ABSTRACT: The term Ehlers-Danlos syndrome (EDS) encompasses a group of inherited connective tissue disorders. The manifestations of EDS can be seen in skin, joints, blood vessels and internal organs and vary from mild to severe and life threatening. Each subtype is a separate and different condition. The genetic basis of many subtypes has now been elucidated, confirming heterogeneity. An awareness of the different conditions within this group is the starting point towards accurate diagnosis. Accurate elicitation of history and clinical signs is vital in selecting the correct confirmatory investigation. Skin biopsy with electron microscopy can be helpful in the decision process of whether and when to perform genetic testing. Correct diagnosis within the EDSs allows targeted management, family screening and prenatal diagnosis.
    Archives of Disease in Childhood 07/2014; 100(1). DOI:10.1136/archdischild-2013-304822 · 2.91 Impact Factor
  • Clinical medicine (London, England) 08/2014; 14(4):432-6. DOI:10.7861/clinmedicine.14-4-432 · 1.69 Impact Factor
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    ABSTRACT: Purpose Ehlers-Danlos Syndrome (EDS) comprises a variety of inherited connective tissue disorders that have been described in association with various neurological features. Until now the neurological symptoms have not been studied in detail; therefore, the aim of this review is to analyse the possible association between EDS, epilepsy and periventricular heterotopia (PH). Methods We have carried out a critical review of all cases of epilepsy in EDS patients with and without PH. Results Epilepsy is a frequent neurological manifestation of EDS; generally, it is characterized by focal seizures with temporo-parieto-occipital auras and the most common EEG findings epileptiform discharges and slow intermittent rhythm with delta-theta waves. Epilepsy in EDS patients is usually responsive to common antiepileptic therapy; very few cases of drug resistant focal epilepsy requested surgical treatment, with favorable results in terms of outcome. Epilepsy is the most common presenting neurological manifestation associated with PH in EDS patients. Abnormal anatomic circuitries (including heterotopic nodules) could generate epilepsy in patients with PH. Conclusion Among the principal neurological manifestations, epilepsy and PH have a considerable importance and can influence the long-term evolution of these patients. We hypothesize that PH may determine the epileptic manifestations in patients with EDS; much remains to be learnt about the relationships between nodules and the epileptic manifestations in EDS syndrome.
    Seizure 11/2014; DOI:10.1016/j.seizure.2014.07.014 · 2.06 Impact Factor