Hereditary hemorragic teleangiectasia in 13-month aged children: case report and review of the literature

Abstract

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant, rare and severe disease that results from vascular dysplasia. It is characterised by recurrent epistaxis, teleangiectasias of skin and mucosa and arteriovenous malformations in: lungs, brain, liver, gastrointestinal tract and spinal cord. Diagnosis of HHT is rarely done in early childhood, because of the gradual appearance of vascular malformations. Patients with HHT require complex, multidisciplinary management, because of heterogeneity of clinical manifestations, risk of potentially life-threatening complications and poor prognosis especially in case of multiple visceral teleangiectasia. Here we report a case of severe HTT with diffuse pulmonary arteriovenous malformations in 13-month-old child with negative family history, who presented with polyglobulia and development retardation. On the basis of literature review we present current recommendations for diagnosis and management in HHT, in particularly in the case of diffuse pulmonary arteriovenous malformations, disqualified from any interventional procedures and associated with a poor prognosis.