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Niemann-Pick disease is a rare autosomal recessive lysosomal storage disease with three subtypes. Types A and B result from a deficiency of acid sphingomyelinase activity, associated with the accumulation of lipid-laden macrophages (so-called Niemann-Pick cells) in various tissues, especially the liver and spleen. Type A is a fatal neurodegenerative disorder of infancy. Type B Niemann-Pick disease is a less severe form with milder neurological involvement, characterized by hepatosplenomegaly, hyperlipidemia, and pulmonary involvement; most patients live into adulthood. Type C Niemann-Pick disease is a complex lipid storage disorder caused by defects in cholesterol trafficking, resulting in a clinical presentation dominated by neurological involvement. Pulmonary involvement occurs in all three types of Niemann-Pick disease, but most frequently in type B. Respiratory manifestations range from a lack of symptoms to respiratory failure. Progression of respiratory disease is slow, but inexorable, due to the accumulation of Niemann-Pick cells in the alveolar septa, bronchial walls, and pleura, potentially leading to a progressively worsening restrictive pattern on pulmonary function testing. Bronchoalveolar lavage has important diagnostic value because it shows the presence of characteristic Niemann-Pick cells. Radiographic findings consist of a reticular or reticulonodular pattern and, eventually, honeycombing, involving mainly the lower lung zones. The most common changes identified by high-resolution computed tomography are ground-glass opacities, mild smooth interlobular septal thickening, and intralobular lines. The aim of this review is to describe the main clinical, imaging, and pathological aspects of Niemann-Pick disease, with a focus on pulmonary involvement.

OBJECTIVE: To determine the frequency of HRCT findings and their distribution in the lung parenchyma of patients with organizing pneumonia. METHODS: This was a retrospective review of the HRCT scans of 36 adult patients (26 females and 10 males) with biopsy-proven organizing pneumonia. The patients were between 19 and 82 years of age (mean age, 56.2 years). The HRCT images were evaluated by two independent observers, discordant interpretations being resolved by consensus. RESULTS: The most common HRCT finding was that of ground-glass opacities, which were seen in 88.9% of the cases. The second most common finding was consolidation (in 83.3% of cases), followed by peribronchovascular opacities (in 52.8%), reticulation (in 38.9%), bronchiectasis (in 33.3%), interstitial nodules (in 27.8%), interlobular septal thickening (in 27.8%), perilobular pattern (in 22.2%), the reversed halo sign (in 16.7%), airspace nodules (in 11.1%), and the halo sign (in 8.3%). The lesions were predominantly bilateral, the middle and lower lung fields being the areas most commonly affected. CONCLUSIONS: Ground-glass opacities and consolidation were the most common findings, with a predominantly random distribution, although they were more common in the middle and lower thirds of the lungs.

Although COP is considered the most frequent cause of the reversed halo sign, the presence of nodular walls or nodules inside the reversed halo strongly favors a diagnosis of active pulmonary tuberculosis rather than COP.

Tuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous disease with high phenotypic variability. The incidence is approximately one in 5000-10,000 births. TSC is characterized by widespread hamartomas and benign or rarely malignant neoplasms affecting various organs, most commonly the brain, skin, retinas, kidneys, heart, and lungs. The wide range of organs affected reflects the roles of TSC1 and TSC2 genes in the regulation of cell proliferation and differentiation. Clinical diagnostic criteria are important because genetic testing does not identify the mutation in up to 25% of patients. Imaging is pivotal, as it allows a presumptive diagnosis of TSC and definition of the extent of the disease. Common manifestations of TSC include cortical tubers, subependymal nodules, white matter abnormalities, retinal abnormalities, cardiac rhabdomyoma, lymphangioleiomyomatosis (LAM), renal angiomyolipoma, and skin lesions. Pulmonary involvement consists of LAM and, less commonly, multifocal micronodular pneumocyte hyperplasia (MMPH), which causes cystic and nodular diseases, respectively. Recent reports indicate that pulmonary LAM is found by computed tomography in up to 35% of the female patients with TSC. MMPH is rare and may be associated with LAM or, less frequently, occurs as an isolated pulmonary manifestation in women with TSC. Dyspnea and pneumothorax are common clinical presentations of LAM, whereas MMPH is usually asymptomatic. The aim of this review is to describe the main clinical, imaging, and pathological aspects of TSC, with a focus on pulmonary involvement.

Here, we report high-resolution computed tomography (HRCT) findings in a patient who developed sudden hemoptysis, dyspnea and chest pain after smoking crack cocaine. Chest X-rays showed consolidations, primarily in the upper lobes, and HRCT scans showed ground glass attenuation opacities, consolidations and air-space nodules. A follow-up CT, after drug use discontinuation and administration of corticosteroids, showed partial resolution of pulmonary lesions and the appearance of cavitations. Clinical, imaging and laboratory findings led to a diagnosis of 'crack lung'.

Cocaine is the most commonly used illicit drug among patients presenting at hospital emergency departments and the most frequent cause of drug-related deaths reported by medical examiners. Various respiratory problems temporally associated with cocaine use have been reported. Acute and chronic uses also are responsible for lung complications, such as pulmonary edema, alveolar hemorrhage, pulmonary hypertension, organizing pneumonia, emphysema, barotrauma, infection, cancer, eosinophilic disease, and aspiration pneumonia. Although most imaging findings are nonspecific, they may raise suspicion of a cocaine-related etiology when considered together with patients' profiles and medical histories. This literature review describes cocaine-induced diseases with pulmonary involvement, with an emphasis on high-resolution chest computed tomographic findings and patterns.

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