A 37-Year-Old Man with Familial Hereditary Hemorrhagic Telangiectasia and Pulmonary Arteriovenous Malformations Presenting with Seizures and a Diagnosis of Brain Abscesses
Hernández-de Sosa, Nerea (Institut de Recerca Sant Pau)
Corrales, Ruben Cardona (Institut d'Investigació Biomèdica Sant Pau)
Casademont i Pou, Jordi (Institut de Recerca Sant Pau)
Universitat Autònoma de Barcelona

Fecha:	2023
Resumen:	Rare disease Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant genetic disease associated with arteriovenous malformations involving diverse organs. Neurological complications from brain abscesses (BA) secondary to pulmonary arteriovenous malformations (PAVMs) is a serious and recognized, albeit infrequent, medical problem. We report the case of a 37-year-old man with familial HHT and PAVMs who presented with seizures as a manifestation of BA. A 37-year-old man was admitted for first tonic-clonic seizures. He had a history of recurrent epistaxis and recurrent gastrointestinal bleeds treated with fulguration and oral iron therapy. A diagnosis of HHT was made because the patient met 3 of 4 Curaçao criteria. Physical examination revealed hypoxemia without dyspnea. A chest X-ray detected nodular pulmonary lesions in both lower lobes. Cranial computed tomography (CT) revealed 3 space-occupying lesions. Antiepileptics and dexamethasone were started. Cranial magnetic resonance and positron emission tomography suggested that lesions were BA. Thoracoabdominal CT with contrast revealed several bilateral PAVMs. Blood cultures were repeatedly negative. With the presumptive diagnosis of septic-embolic BA, empirical antibiotic therapy was started for 8 weeks. Neurological symptoms resolved and malformations >2 cm were selectively embolized. A genetic study revealed exon5 mutations in the ENG gene. This report highlights the association between PAVMs in a patient with HHT and development of BA. Clinicians should be aware of this association so that diagnosis and treatment can be provided as fast as possible to ensure the best outcome for the patient. Embolization was performed as preventive treatment, and a genetic study was conducted as it is potentially useful for primary prevention in the patient's offspring.
Derechos:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades.
Lengua:	Anglès
Documento:	Article ; recerca ; Versió publicada
Materia:	Arteriovenous Malformations ; Embolization, Therapeutic ; Telangiectasia, Hereditary Hemorrhagic ; Brain Abscess ; Seizures ; ENG Protein, Human
Publicado en:	The American Journal of Case Reports, Vol. 24 (february 2023) , p. e938548-1-e938548-5, ISSN 1941-5923

DOI: 10.12659/AJCR.938548
PMID: 36841939

5 p, 843.8 KB

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