METHODS: A 56-year-old man was referred to our hospital with bilateral ground-glass opacities (GGOs) on chest computed tomography (CT) lasting 8 months, with no complaint of any discomfort. Because of the lack of clinical manifestations, the diagnosis of MMPH and TSC was confirmed by lung biopsy histopathology and gene sequencing of nonsense mutations in the TSC1 gene. Considering the relevant literature review and that the prognosis of most patients with MMPH is generally stable, no special treatment was given. We followed up with the patient for three years after discharge, and the clinical manifestations and imaging features of the patient were stable.
CONCLUSIONS: To our best knowledge, this is the first case of MMPH lacking typical clinical manifestations of TSC confirmed by histopathology combined with gene sequencing. MMPH should be considered as one of the differential diagnoses of multiple GGOs in the lung even when the findings of TSC are not recognized.
方法:一名56岁的男子因胸部计算机断层扫描(CT)显示双侧磨玻璃影(GGO)而被转诊至我院,持续8个月。没有任何不适的抱怨。由于缺乏临床表现,肺活检组织病理学和TSC1基因无义突变的基因测序证实了MMPH和TSC的诊断.考虑到相关文献综述和大多数MMPH患者的预后总体稳定,没有给予特殊治疗。出院后我们对病人进行了三年的随访,患者的临床表现和影像学特征稳定。
结论:据我们所知,这是第一例缺乏经组织病理学结合基因测序证实的典型TSC临床表现的MMPH。即使无法识别TSC的发现,MMPH也应被视为肺部多个GGO的鉴别诊断之一。