Dados do Trabalho

Título

PULMONARY ARTERIOVENOUS MALFORMATIONS DETERMINING ISCHEMIC STROKE IN ADOLESCENCE: A CASE REPORT

Apresentação dos casos

Case Presentation: V.H.M, 13 years old, history of trauma due to being run over 3 days ago and need for surgery to fix a fracture on the lower limb, was referred after an episode of convulsive crisis. A cranial tomography was performed which showed hypodensity in the right nucleocapsular region, compatible with ischemic stroke. Given the neurological and orthopedic condition, an investigation was carried out for Pulmonary Thromboembolism (PTE) and Venous Thromboembolism (DVT). Chest Angiotomography (CT Angio) identified several pulmonary arteriovenous fistulas, suggestive of Hereditary Telangiectasia Hemorrhage (HHT). Cranial Magnetic Resonance Imaging (MRI) showed multiple vascular prominences with contrast enhancement, characteristic of vascular malformations. The patient had a history of epistaxis, requiring cauterization. Awaiting exome for diagnostic confirmation.

Discussão

Discussion: HHT is an autosomal dominant disease that causes vascular dysplasia, characterized by arteriovenous fistulas. These abnormal communications between the systemic and pulmonary circulations can cause paradoxical embolism and, consequently, ischemic stroke. They also cause chronic bleeding due to the rupture of these vessels. The prevalence of this disease is 1:5000 people and is commonly underdiagnosed, as the manifestations are late. The clinical diagnosis is established in the presence of 3 of the 4 criteria: epistaxis, mucocutaneous telangiectasia, visceral lesions and first-degree relatives diagnosed with HHT. In the face of an inconclusive clinical diagnosis, identification of the pathogenic variant confirms the diagnosis. In the case described, the patient underwent CT angiography to investigate PTE/DVT, which showed changes characteristic of HHT. Added to this, stroke associated with a history of epistaxis corroborates the diagnostic suspicion. The family history was unclear, which prevents, in addition to the absence of mucocutaneous telangiectasias, confirmation of the diagnosis. However, this can be established even with a negative family history, and new mutations are very rare.

Comentários finais

Final Comments: HHT is a rare autosomal dominant disease whose clinical manifestations and complications typically present in adolescence. Arteriovenous malformations are more common in the lungs, central nervous system and liver, and should be considered as a differential diagnosis in cases of stroke during adolescence in patients with a history of epistaxis.

Referências

Floria M, Năfureanu ED, Iov DE, Sîrbu O, Dranga M, Ouatu A, Tănase DM, Bărboi OB, Drug VL, Cobzeanu MD. Hereditary Hemorrhagic Telangiectasia and Arterio-Venous Malformations-From Diagnosis to Therapeutic Challenges. J Clin Med. 2022 May 7;11(9):2634. doi: 10.3390/jcm11092634. PMID: 35566759; PMCID: PMC9105924.
Danesino C, Cantarini C, Olivieri C. Hereditary Hemorrhagic Telangiectasia in Pediatric Age: Focus on Genetics and Diagnosis. Pediatr Rep. 2023 Feb 10;15(1):129-142. doi: 10.3390/pediatric15010011. PMID: 36810341; PMCID: PMC9944132

Palavras Chave

stroke; adolescence; arterio-venous malformations