Central Nervous System Lesions Associated With Hereditary Hemorrhagic Telangiectasia -Three Case Reports-

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is easily overlooked in patients with central nervous system (CNS) lesions. Our clinical experience of three patients with CNS lesions associated with HHT stresses the importance of considering HHT. A 23-year-old male presented with consciousness disturbance and right hemiparesis. Emergency cerebral digital subtraction angiography revealed occlusion of the left middle cerebral artery and the left anterior cerebral artery. Pulmonary arteriography showed three pulmonary arteriovenous malformations (AVMs). A 62-year-old male presented with consciousness disturbance and sensory aphasia. Magnetic resonance imaging revealed a ringenhanced lesion in the left temporal lobe which was removed by left frontotemporal craniotomy. The diagnosis was brain abscess. Chest computed tomography (CT) revealed two pulmonary AVMs. A 32-year-old female presented with progressive mild weakness in her left hand. Initial CT showed subcortical hemorrhage in the right frontal lobe. Cerebral angiography revealed no vascular malformations, but chest CT disclosed five pulmonary AVMs. All three patients had a family history of HHT. The possibility of HHT is important to consider in patients with cerebrovascular disease (CVD) or brain abscess to prevent complications, not only in the patients but also their blood relatives. Therefore, the medical and family history of patients with CVD or brain abscess should be investigated and HHT should be considered during the physical examination.

Complicações Neurológicas da Telangiectasia Hereditária Hemorrágica

“…Regular nasal bleeding is an early marker of HHT and should raise suspicion for this condition in young patients without risk factors presenting with a stroke or cerebral abscess. [1][2][3][4][5] Neurologic symptoms are typically not the first sign but frequently complicate the disease due to paradoxical embolism from the PAVMs and cerebrovascular malformations.6-8 Ischemic stroke and brain abscess can present as serious complications of HHT due to irregular communications between arteries and veins in the lungs that determine a right to left transit of septic or aseptic emboli, as was the case of our patient. 1,3,[5][6][7]9,10 PAVMs provide a right to left shunt that allows a bypass from the filtering effect of the lung capillaries.…”

“…1 The diagnosis of this rare disease is made based on Curaçao clinical criteria. [1][2][3][4][5] Our patient presented four of the four criteria: epistaxis, mucosal telangiectasis, hepatic arteriovenous malformations, PAVMs and history of first degree relatives with the disease.…”

“…Since HHT is a rare condition, practitioners are unaware of its potential complications and the need for family screening. 3,5 With this example, we want to point out the complexity of HHT, its complications, and above all that we can prevent further morbidity. …”

“…1,2 The diagnosis is established by the Curaçao Criteria based on clinical symptoms, identification of mucocutaneous telangiectasias, visceral involvement, and family history. [1][2][3][4][5] Neurologic complications can arise from paradoxical embolism due to pulmonary arteriovenous malformations (PAVMS) and are potentially fatal. 1,3,4,[6][7][8][9] Giving the low prevalence of HHT, these complications are often regarded as isolated events, enabling further complications.…”