A Case of HHT Presenting as Cerebral Abscess

Abstract

INTRODUCTION: Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by mucocutaneous telangiectasias, AV malformations in visceral organs, commonly presentating as epistaxis(44%), gastro-intestinal bleeding (33%), mucocutanous telengiectasia (75%) and rarely as cererbal abscess(1%). Here, we report a case of HHT presenting cererbal abcess secondary to pulmonary AV malformation. CASE PRESENTATION: A 52 year old male without significant past medical diseases presented to our emergency department with a three day history of frontal headache, dizziness upon standing and unsteady gait. He also complained of low grade fevers and generalized malaise. The patient denied any shortness of breath, syncopal episodes, focal weakness, or sensory change. He had no history of tobacco or drug use, alcohol use, sick contacts, or recent travel. Family history was significant for HHT in his mother and younger sister. On examination, he was tachycardic with a rate of 118/min, but afebrile and normotensive. There were no obvious mucocutaneous telengiectasias. Neurological exam was positive for wide based gait and rhomberg's sign. Laboratory tests showed mild leukocytosis and iron deficiency anemia. A single ring enhancing lesion within the left frontal lobe was noted on computed tomography of the head. Due to high suspicion of HHT, a computed tomography of the chest was done, which showed a large AVM in the right lower lobe of lung. The patient underwent craniotomy with drainage of cerebral abscess, and embolization with coiling of the pulmonary AVM. Cultures from cerebral abscess revealed Streptococcus constellatus and he was treated with intravenous antibiotics for six weeks. DISCUSSION: Approximately 15-50% of patients with HHT can have pulmonary AVM and a much smaller subsect may have life-threatening complications including TIA, stroke, cerebral abscess, or spontaneous hemothorax from these AVM. Direct cerebrovascular AVM is also seen in 10% of HHT patients. Screening with CT chest is recommended among family members with positive history of HHT. In addition, these patients should be followed closely with annual CT chest as there is a high risk of recurrence of pulmonary AVM. CONCLUSIONS: In conclusion, patients with HHT can have a variety of clinical presentations. Pulmonary AVM can be the culprit in those who present with cerebral abscess and no clear source of infection.