Abstract：
BACKGROUND: Multifocal micronodular pneumocyte hyperplasia (MMPH) is a rare pulmonary manifestation of the tuberous sclerosis complex (TSC) with distinctive histological characteristics. Most case reports of MMPH associated with TSC usually have a history and typical clinical features (seizures, mental retardation, and skin lesions) of TSC. We present a peculiar asymptomatic MMPH case that lacked the history and typical clinical features of TSC.
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.
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.
摘要：
背景：多灶性微结节性肺细胞增生（MMPH）是结节性硬化症（TSC）的罕见肺部表现，具有独特的组织学特征。大多数与TSC相关的MMPH病例报告通常具有病史和典型的临床特征（癫痫发作，智力迟钝,和皮肤损伤）的TSC。我们提出了一个特殊的无症状MMPH病例，缺乏TSC的病史和典型的临床特征。
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。
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。
