A case of hereditary hemorrhagic telangiectasia with hypoxemia onset in the neonatal period.

BACKGROUND

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant disease with high penetrance characterized by arteriovenous malformations (AVMs) in multiple organs and telangiectasia in the mucocutaneous. Neonatal presentations of HHT are rare, as this disorder typically presents in adolescence or beyond with epistaxis.  CASE PRESENTATION: A male newborn was found to have hypoxemia, but screening for common causes was negative. His cerebrovascular malformations, including cerebral arteriovenous malformation (CVMs) and arteriovenous fistula (AVF), were discovered at 8 months of age. He showed no neurological symptoms after two embolization treatments, although hypoxemia of unknown origin persisted. At 29 months of age, transthoracic contrast echocardiography (TTCE) confirmed an intrapulmonary right-to-left shunt. Subsequent genetic testing revealed a de novo mutation in the ENG gene, confirming the diagnosis of HHT. However, his concurrent computerized tomography (CT) angiography unrevealed the size and location of the pulmonary arteriovenous malformation (PAVMs), which make embolization unfeasible. Therefore, the current management plan is limited to observation and follow-up.

CONCLUSIONS

This patient highlights the importance of conducting comprehensive early screening for potential causes of hypoxemia in newborns or infants. Although rare, HHT with PAVMs remain a significant etiology of hypoxemia.