Juvenile stroke in combined syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis

In 2004 a new condition called “hereditary hemorrhagic telangiectasia–juvenile polyposis” (HHT–JP) was described, in which symptoms of the autosomal dominant diseases HHT (Osler–Rendu disease) and JP overlap, both genetically and clinically. In this syndrome, juvenile polyps and anemia are the predominant clinical features, although affected patients display symptoms of both diseases, and a high prevalence of visceral arteriovenous malformations (AVMs) has been reported. Stroke secondary to pulmonary AVMs (PAVMs) is one of the possible neurological manifestations of HHT. Interestingly, the underlying pathophysiological mechanism of stroke in this rare disease is exemplary of strokes due to paradoxical embolism. To our knowledge, only two patients with HHT–JP syndrome presenting with stroke have been reported, but no details of the related clinical picture can be found in the literature. We therefore report on a case of juvenile stroke associated with PAVMs as the clinical presentation of HHT–JP overlap syndrome.