Ardolino Luke, Silverstone Elizabeth, Varjavandi Vincent, Yates Deborah
Department of Medical Oncology The Kinghorn Cancer Centre, St Vincent's Hospital Sydney NSW Australia.
Department of Radiology St Vincent's Hospital Sydney NSW Australia.
Respirol Case Rep. 2020 Jun 24;8(6):e00610. doi: 10.1002/rcr2.610. eCollection 2020 Aug.
Birt-Hogg-Dubé (BHD) syndrome is a rare, autosomal dominant disorder caused by a germline mutation in the folliculin gene (17p11.2). It is characterized by benign skin lesions, renal tumours, and pulmonary cysts, with pneumothoraces seen exceptionally rarely in patients younger than 40 years. We report the case of a 15-year-old boy who presented with sudden onset left-sided chest pain and acute dyspnoea secondary to a large left-sided pneumothorax. This failed to resolve despite chest drain insertion and he required video-assisted thoracoscopic surgical pleurodesis, which revealed macroscopic pulmonary cyst formation. Following this, he made a good recovery and a further high-resolution computerized tomography (CT) scan of his chest identified multiple, small, subpleural parenchymal lung cysts that were not initially visible on prior imaging. Further questioning revealed a strong family history of spontaneous pneumothoraces and additional genomic sequencing, and confirmed a diagnosis of BHD syndrome. We highlight the diagnostic, management, and surveillance challenges for this rare syndrome.
Birt-Hogg-Dubé（BHD）综合征是一种罕见的常染色体显性疾病，由卵泡抑素基因（17p11.2）的种系突变引起。其特征为良性皮肤病变、肾肿瘤和肺囊肿，40岁以下患者极少出现气胸。我们报告一例15岁男孩，因左侧大量气胸继发突然发作的左侧胸痛和急性呼吸困难前来就诊。尽管插入胸腔引流管，气胸仍未缓解，他需要接受电视辅助胸腔镜手术胸膜固定术，术中发现肉眼可见的肺囊肿形成。此后，他恢复良好，胸部进一步的高分辨率计算机断层扫描（CT）显示多个小的胸膜下肺实质囊肿，这些囊肿在之前的影像学检查中最初并未显示。进一步询问发现其有自发性气胸的家族史，经额外的基因组测序，确诊为BHD综合征。我们强调了这种罕见综合征在诊断、管理和监测方面的挑战。
