Tuberous sclerosis complex complicated by pulmonary multinodular shadows

Area of Science:

• Pulmonology
• Radiology
• Genetics

Background:

• Tuberous sclerosis complex (TSC) is a genetic disorder characterized by benign tumor formation in multiple organs.
• Pulmonary involvement in TSC, particularly multifocal micronodular pneumocyte hyperplasia (MMPH), is rare and can be challenging to diagnose.
• This case underscores the diagnostic complexities of pulmonary manifestations in TSC.

Observation:

• A 41-year-old woman with epilepsy presented with multiple pulmonary nodules on chest CT, initially suspected as neoplastic lesions.
• Brain imaging revealed characteristic findings of TSC, including coarse nodular calcifications and cortical tubers.
• A subungual fibroma, another stigmata of TSC, was also identified.

Findings:

• Histopathological examination of lung biopsy confirmed type II pneumocyte hyperplasia with septal thickening, consistent with MMPH.
• The constellation of neurological, dermatological, and pulmonary findings led to the diagnosis of TSC with MMPH.
• Multifocal micronodular pneumocyte hyperplasia (MMPH) represents a specific pulmonary manifestation of tuberous sclerosis complex.

Implications:

• This case emphasizes the need for a multidisciplinary approach in diagnosing rare manifestations of genetic disorders.
• Recognizing MMPH as a potential pulmonary manifestation of TSC is crucial for appropriate patient management.
• Early and accurate diagnosis of TSC-related pulmonary disease can guide clinical monitoring and treatment strategies.