RESUMEN
A 65-year-old man presented with transient neurological symptoms, followed by rapid cognitive decline, myoclonus and fevers. He had evidence of scleritis and an arthropathy. This paper reports the clinicopathological conference discussed at the Association of British Neurologists Annual Meeting 2017.
Asunto(s)
Disfunción Cognitiva/patología , Mioclonía/patología , Escleritis/patología , Vasculitis/patología , Anciano , Disfunción Cognitiva/diagnóstico , Humanos , Artropatías/diagnóstico , Artropatías/patología , Masculino , Mioclonía/diagnóstico , Recurrencia , Escleritis/diagnóstico , Vasculitis/diagnósticoRESUMEN
Vascular (type IV) Ehlers-Danlos is an autosomally dominant inherited condition that results from a defect in type III collagen production. It can result in vascular complications such as rupture and dissection, as well as gastrointestinal and uterine rupture. We present the case of a 17-year-old girl who presented with transient neurological signs and pulsatile tinnitus secondary to carotid dissection 1 year after suffering from a stroke caused also by a carotid dissection on the contralateral side. We managed acutely and investigated for an underlying connective tissue disorder. Genetic analysis of COL 3A1 was performed and a heterozygous missense, non-conservative mutation of c.970G>A was detected. This replication mutation has previously been associated with type IV Ehlers-Danlos syndrome.