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1.
Blood Press ; 28(2): 139-143, 2019 04.
Article in English | MEDLINE | ID: mdl-30623691

ABSTRACT

We report the case of a 42-year-old patient referred for suspicion of fibromuscular dysplasia in the context of a carotid artery dissection occurring after a minor trauma. Initial complaints included left hemicrania, lateral diplopia with left 6th cranial nerve palsy and pulsatile tinnitus. The work-up disclosed a large left carotid-cavernous fistula, as well as more proximal carotid lesions compatible with multifocal fibromuscular dysplasia. Personal history included colonic and uterine perforation. Family history disclosed a fatal hemorrhage due to rupture of a splenic artery aneurysm in the father and an iliac dissection in the sister. Genetic screening revealed a mutation in exon 6 of the COL3A1 gene in the index patient and her sister, confirming the diagnosis of vascular Ehlers-Danlos syndrome (vEDS). This case report shows that images suggestive of fibromuscular dysplasia may be found in patients with demonstrated vEDS. Furthermore, it reminds that in case of cervical artery dissection occurring in a young patient, all efforts should be made to diagnose the underlying condition. In particular, the existence of a family history of arterial dissection, the occurrence of a carotid-cavernous fistula and coexistence with other complications suggestive of a connective tissue disease should prompt physicians to consider the diagnosis of vEDS.


Subject(s)
Aortic Dissection , Cervix Uteri/blood supply , Ehlers-Danlos Syndrome/diagnosis , Fibromuscular Dysplasia/diagnosis , Adult , Arteries , Collagen Type III/genetics , Diagnosis, Differential , Ehlers-Danlos Syndrome/genetics , Female , Fistula , Humans , Medical History Taking , Mutation
3.
Acta Neurol Belg ; 117(4): 927-929, 2017 Dec.
Article in English | MEDLINE | ID: mdl-28730530

ABSTRACT

We describe an additional case of spastic paretic hemifacial contracture, an uncommon condition characterized by sustained unilateral contraction of the facial muscles associated with mild ipsilateral facial paresis. This entity has only rarely been associated with multiple sclerosis (MS) and can be mistaken for hemifacial spasm. Early consideration of MS in the differential diagnosis of young patients admitted with these symptoms is essential.


Subject(s)
Contracture/diagnostic imaging , Facial Muscles/diagnostic imaging , Hemifacial Spasm/diagnostic imaging , Multiple Sclerosis/diagnostic imaging , Muscle Spasticity/diagnostic imaging , Electromyography/methods , Hemifacial Spasm/complications , Humans , Male , Multiple Sclerosis/complications , Young Adult
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