Background:
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder of vascular dysplasias that is characterized by mucocutaneous telangiectasias, gastrointestinal tract bleeding, and arteriovenous malformations (AVMs) of the pulmonary, hepatic, and cerebral vascular systems.
Case Summary:
A seven-year-old boy presented to his primary care provider with a five-day history of watery diarrhea and was incidentally found to have oxygen saturations in the low eighties, perioral cyanosis, and clubbing on physical exam. He was referred to the pediatric emergency department (ED) for evaluation. Upon presentation to the pediatric ED, oxygen saturation ranged from 74-85%. He was in no acute distress and was afebrile with normal vital signs. The patient was small for his age with height and weight in the thirteenth and third percentiles, respectively, and had central cyanosis and clubbing of fingers and toes. Auscultation revealed diminished lung sounds in the right lower lobe. No mucocutaneous telangiectasias or cardiac murmurs were appreciated. Family history was positive for hereditary hemorrhagic telangiectasia (HHT) with gastrointestinal bleeding and anemia in his maternal great grandmother and maternal grandmother, minor bleeding and mucocutaneous telangiectasias in his mother, and cyanosis with exercise and recurrent epistaxis in his brother.
Complete blood count was significant for a hemoglobin level of 18.1 g/dL. A chest x-ray (Figure 1) showed an airspace opacification within the superior segment of the right lower lobe suspicious for an arteriovenous malformation (AVM).peer-reviewe
