[Pulmonary involvement in rare systemic diseases-part 2 : Pulmonary manifestations in the context of lysosomal and metabolic storage diseases, phacomatosis, and neuromuscular disorders].

Background: Pulmonary manifestations of systemic diseases represent a complex and diagnostically challenging field. While pulmonary involvement in immunological and hematological disorders is well described, lung involvement in rare genetic and congenital systemic diseases-such as systemic storage diseases, neuromuscular disorders, and phacomatoses-is only gradually gaining increased attention in radiological diagnostics.

Results: The pulmonary component often manifests secondarily, frequently after years of progression and worsening of the underlying disease. Early detection of pulmonary manifestations is crucial for therapeutic management and the overall disease outcome. In imaging, high-resolution computed tomography (HRCT) plays a key role. As a technological innovation, photon-counting detector CT (PCD-CT) offers new diagnostic opportunities by providing significantly improved spatial resolution and an optimized signal-to-noise ratio compared to state-of-the-art energy-integrating detector CT (EID-CT) systems.

Conclusion: The targeted application of these advanced CT technologies can thus not only improve the differential diagnostic classification of pulmonary manifestations but also enable timely therapeutic intervention.