RESUMO
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.
Assuntos
Doença de Gaucher/diagnóstico , Pneumopatias/diagnóstico por imagem , Pneumopatias/etiologia , Doenças de Niemann-Pick/complicações , Doenças de Niemann-Pick/diagnóstico , Doenças Ósseas/etiologia , Tosse/etiologia , Diagnóstico Diferencial , Dispneia/etiologia , Humanos , Hepatopatias/etiologia , Doenças de Niemann-Pick/terapia , Infecções Respiratórias/etiologiaRESUMO
Amyloidosis is a constellation of disease entities characterized by abnormal extracellular deposition and accumulation of protein and protein derivatives, which show apple-green birefringence when stained with Congo red and viewed under polarized light. Amyloid can infiltrate virtually all organ systems and can display multiple and diverse imaging findings. Pathologically, respiratory involvement occurs in 50 % of patients with amyloidosis, and its clinical signs and symptoms vary depending on whether the disease is systemic or localized. The four main patterns of respiratory tract involvement are tracheobronchial, nodular parenchymal, diffuse alveolar septal, and lymphatic. Imaging findings of amyloidosis are nonspecific and vary in each pattern; knowledge about the disease impairment type is thus very important, and amyloidosis should be considered in the differential diagnosis of other very common diseases, such as infectious diseases, neoplasms, and vasculitis. This literature review describes the main clinical and imaging manifestations of amyloidosis, focusing on respiratory tract involvement and differential diagnosis.
Assuntos
Amiloidose/diagnóstico , Pneumopatias/diagnóstico , Pulmão/diagnóstico por imagem , Diagnóstico Diferencial , Humanos , Pulmão/patologia , Sistema Respiratório/diagnóstico por imagem , Sistema Respiratório/patologia , Doenças Respiratórias/diagnóstico , Tomografia Computadorizada por Raios XRESUMO
Pulmonary malakoplakia is a rare lung lesion more frequently found in immunocompromised patients than in immunocompetent individuals. In this study, we report the challenging case of a young immunocompetent patient with an irregular pulmonary nodule with peripheral cysts who, after undergoing surgery, was diagnosed with malakoplakia. Due to the rarity of the disease and the similarity of this condition to malignant neoplasms, cytopathological or histopathological examinations are necessary for the correct diagnosis. A description of pulmonary malakoplakia with peripheral cysts has not been previously published in the literature.
RESUMO
This case report describes a 61-year-old male who sought treatment for sudden symptoms of dry cough, chest pain and severe dyspnea. On admission, the patient had hypoxemia and predominantly medullary infiltrate that we could observe on his imaging exams. After hospital discharge, he presented two similar episodes, with clinical and radiological improvement with oxygen therapy alone. He denied exposure to birds, mold or chemical agents. However, the patient noticed the onset of symptoms soon after drinking chimarrão. Given the compatible clinical, radiological and laboratory history, the diagnosis of hypersensitivity pneumonitis was performed. The patient was instructed by the medical team not to consume the drink anymore, remaining asymptomatic for more than two years.
Assuntos
Alveolite Alérgica Extrínseca , Pneumonia , Alveolite Alérgica Extrínseca/tratamento farmacológico , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Paracoccidioidomycosis (PCM), or blastomycosis in South America, is a systemic granulomatous mycosis related to activities associated with soil management, especially agriculture. PCM restricted to tracheobronchial tree region has not yet been reported.