Multifocal micronodular pneumocyte hyperplasia lacking typical clinical features of the tuberous sclerosis complex: a case report and literature review

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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. Case presentation: 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. Conclusion: 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.

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Li, S., Wu, C., Ma, Q., Chen, X., Zhang, W., Li, X., … Ji, N. (2022). Multifocal micronodular pneumocyte hyperplasia lacking typical clinical features of the tuberous sclerosis complex: a case report and literature review. BMC Pulmonary Medicine, 22(1). https://doi.org/10.1186/s12890-022-01849-8

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