病例报告：多灶性中间链球菌脑脓肿作为SMAD4相关幼年性息肉病-遗传性出血性毛细血管扩张症重叠综合征首发表现的儿科病例

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中文摘要

背景： 遗传性出血性毛细血管扩张症（HHT）是一种罕见的遗传性疾病，以鼻出血、毛细血管扩张和动静脉畸形（AVM）为特征。HHT的临床诊断通常依据Curaçao标准的满足情况。HHT是儿科人群脑脓肿的已知危险因素，尤其是在伴有肺AVM的患者中，肺内右向左分流使脓毒性栓子得以播散至脑。方法：我们报告一例9岁女孩，患有哮喘和慢性鼻窦炎，在2019冠状病毒病感染背景下出现5天鼻塞、咳嗽和头痛加重。由于持续低氧血症和短暂精神状态改变，进行了进一步评估，脑磁共振成像显示多个环形强化病灶，胸部计算机断层扫描（CT）显示多个肺结节。CT血管造影证实弥漫性肺AVM。脑活检培养生长出中间链球菌。全基因组测序鉴定出一个新发杂合SMAD4变异，支持幼年性息肉病/HHT综合征的分子诊断。结果：本病例说明了该综合征的非典型表现和早期诊断，其起因是偶然发现多个亚临床脑脓肿。结论：它强调了在遇到来源不明的脑脓肿时，保持广泛鉴别诊断并进行针对性诊断检查的价值。肺AVM应被视为脑脓肿的潜在病因，尤其是在伴有低氧血症且已排除心内膜炎的患者中。此外，对于不明原因或多灶性脑脓肿的儿科患者，即使未满足Curaçao标准，也应考虑进行HHT的遗传学评估，因为早期识别可能有助于预防神经系统并发症。

英文摘要

Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disease characterized by epistaxis, telangiectasias, and arteriovenous malformations (AVMs). Clinical diagnosis of HHT is typically guided by fulfillment of the Curaçao criteria. HHT is a known risk factor for brain abscesses in the pediatric population, particularly in those with pulmonary AVMs, where intrapulmonary right-to-left shunting permits septic emboli to seed the brain. We report the case of a 9-year-old girl with asthma and chronic sinusitis who presented with 5 days of congestion, cough, and worsening headache in the setting of Coronavirus Disease 2019 infection. Due to persistent hypoxia and transient altered mental status, further evaluation was pursued, with brain magnetic resonance imaging revealing multiple ring-enhancing lesions and chest computed tomography (CT) demonstrating multiple pulmonary nodules. CT angiography confirmed diffuse pulmonary AVMs. Culture from a brain biopsy grew Streptococcus intermedius. Whole-genome sequencing identified a de novo heterozygous SMAD4 variant, supporting a molecular diagnosis of juvenile polyposis/HHT syndrome. This case illustrates an atypical presentation and early diagnosis of this syndrome, prompted by the incidental finding of multiple subclinical brain abscesses. It underscores the value of maintaining a broad differential and performing targeted diagnostic studies when encountering brain abscesses of unclear origin. Pulmonary AVMs should be considered as a potential etiology of brain abscess, particularly in patients with concomitant hypoxemia and when endocarditis has been excluded. Furthermore, genetic evaluation for HHT should be considered in pediatric patients with unexplained or multifocal brain abscesses, even when the Curaçao criteria are not met, as early recognition may help prevent neurologic complications.