Year: 2025
Type: article
Study design: Case Report
Abstract: Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder associated with various neurological complications arising from vascular malformations.We present a case of a 49-year-old female who presented with focal seizures.Imaging revealed a brain abscess.Further investigation, prompted by a history of recurrent epistaxis, identified multiple pulmonary and liver arteriovenous malformations (AVMs).The brain lesion was confirmed to be an abscess and the patient was subsequently diagnosed with HHT based on clinical criteria and family history.This case highlights the importance for a high index of suspicion for HHT in patients presenting with recurrent epistaxis and evidence of systemic AVMs.Prompt diagnosis and screening for visceral AVMs, particularly PAVMs, is essential for preventing serious neurological complications like cerebral abscesses thus significantly improving patient outcomes in this multisystemic disorder.
Institution: Bharati Vidyapeeth (Deemed to be University)
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W4414967637
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