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1.
Radiol. bras ; 57: e20230114, 2024. graf
Article in English | LILACS-Express | LILACS | ID: biblio-1558813

ABSTRACT

Abstract Objective: To conduct a survey on the use of the term "interstitial lung abnormalities" in radiology reports in Brazil, propose an appropriate Portuguese-language translation for the term, and provide a brief review of the literature on the topic. Materials and Methods: A survey was sent via electronic message to various radiologists in Brazil, asking about their familiarity with the term, which translation of the term they use in Portuguese, and whether they use the criteria proposed by the Fleischner Society. Results: A total of 163 responses were received, from all regions of Brazil. Although the vast majority (88%) of the respondents stated that they were familiar with the term "interstitial lung abnormalities", there was considerable variation regarding the equivalent term they used in Portuguese. Conclusion: We suggest that the term "anormalidades pulmonares intersticiais" be used in order to standardize radiology reports and disseminate knowledge of these findings in Brazil.


Resumo Objetivo: Fazer um levantamento sobre o uso do termo interstitial lung abnormalities nos laudos radiológicos no Brasil, propor uma tradução para o termo e fazer uma breve revisão sobre o tema. Materiais e Métodos: Foi enviada uma pesquisa, por meio de mensagem eletrônica, para diversos radiologistas de todo o Brasil, questionando sobre a familiarização com o termo, qual tradução em português utilizam e se usam os critérios propostos pela diretriz da Sociedade Fleischner. Resultados: Foram recebidas 163 respostas de todas as regiões do Brasil e a grande maioria dos radiologistas respondeu estar familiarizado com o termo interstitial lung abnormalities (88%), mas houve grande variação em relação ao termo utilizado como tradução para o português. Conclusão: Sugerimos a padronização do termo "anormalidades pulmonares intersticiais", a fim de uniformizar os relatórios radiológicos e difundir esta entidade no País.

5.
Radiol Bras ; 55(1): 1-5, 2022.
Article in English | MEDLINE | ID: mdl-35210657

ABSTRACT

OBJECTIVE: To describe the relationship between coronavirus disease 2019 (COVID-19) and pulmonary tuberculosis during the current pandemic, as well as to describe the main computed tomography (CT) findings in patients suffering from both diseases simultaneously. MATERIALS AND METHODS: This was a retrospective, cross-sectional observational study of the chest CT scans of 360 patients with COVID-19, as confirmed by RT-PCR. RESULTS: In four (1.1%) of the patients, changes suggestive of COVID-19 and tuberculosis were observed on the initial CT scan of the chest. On chest CT scans performed for the follow-up of COVID-19, cavitary lesions with bronchogenic spread were observed in two of the four patients, whereas alterations consistent with the progression of fibrous scarring related to previous tuberculosis were observed in the two other patients. The diagnosis of tuberculosis was confirmed by the isolation of Mycobacterium tuberculosis. CONCLUSION: Albeit rare, concomitant COVID-19 and tuberculosis can be suggested on the basis of the CT aspects. Radiologists should be aware of this possibility, because initial studies indicate that mortality rates are higher in patients suffering from both diseases simultaneously.


OBJETIVO: Descrever a associação entre COVID-19 e tuberculose pulmonar durante a pandemia atual e descrever os principais achados tomográficos. MATERIAIS E MÉTODOS: Estudo retrospectivo transversal e observacional de tomografias computadorizadas de tórax realizadas em 360 pacientes com COVID-19 confirmada por RT-PCR. RESULTADOS: Em quatro pacientes (1,1%) foram encontradas alterações tomográficas sugestivas de associação entre COVID-19 e tuberculose. Em dois pacientes observaram-se escavações com disseminação broncogênica e em outros dois, alterações compatíveis com progressão de lesões fibrocicatriciais relacionadas a tuberculose prévia, em exames de controle para COVID-19. O diagnóstico foi confirmado pelo isolamento do Mycobacterium tuberculosis. CONCLUSÃO: Apesar de incomum, a associação entre COVID-19 e tuberculose pode ser sugerida com base em aspectos tomográficos, devendo os radiologistas estar atentos a esta possibilidade, pois estudos iniciais indicam aumento da mortalidade nesses pacientes.

6.
Radiol Bras ; 55(1): VII-VIII, 2022.
Article in English | MEDLINE | ID: mdl-35210668
7.
Radiol. bras ; 55(1): VII-VIII, Jan.-Feb. 2022.
Article in English | LILACS-Express | LILACS | ID: biblio-1360661
8.
Radiol. bras ; 55(1): 1-5, Jan.-Feb. 2022. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1360665

ABSTRACT

Abstract Objective: To describe the relationship between coronavirus disease 2019 (COVID-19) and pulmonary tuberculosis during the current pandemic, as well as to describe the main computed tomography (CT) findings in patients suffering from both diseases simultaneously. Materials and Methods: This was a retrospective, cross-sectional observational study of the chest CT scans of 360 patients with COVID-19, as confirmed by RT-PCR. Results: In four (1.1%) of the patients, changes suggestive of COVID-19 and tuberculosis were observed on the initial CT scan of the chest. On chest CT scans performed for the follow-up of COVID-19, cavitary lesions with bronchogenic spread were observed in two of the four patients, whereas alterations consistent with the progression of fibrous scarring related to previous tuberculosis were observed in the two other patients. The diagnosis of tuberculosis was confirmed by the isolation of Mycobacterium tuberculosis. Conclusion: Albeit rare, concomitant COVID-19 and tuberculosis can be suggested on the basis of the CT aspects. Radiologists should be aware of this possibility, because initial studies indicate that mortality rates are higher in patients suffering from both diseases simultaneously.


RESUMO Objetivo: Descrever a associação entre COVID-19 e tuberculose pulmonar durante a pandemia atual e descrever os principais achados tomográficos. Materiais e Métodos: Estudo retrospectivo transversal e observacional de tomografias computadorizadas de tórax realizadas em 360 pacientes com COVID-19 confirmada por RT-PCR. Resultados: Em quatro pacientes (1,1%) foram encontradas alterações tomográficas sugestivas de associação entre COVID-19 e tuberculose. Em dois pacientes observaram-se escavações com disseminação broncogênica e em outros dois, alterações compatíveis com progressão de lesões fibrocicatriciais relacionadas a tuberculose prévia, em exames de controle para COVID-19. O diagnóstico foi confirmado pelo isolamento do Mycobacterium tuberculosis. Conclusão: Apesar de incomum, a associação entre COVID-19 e tuberculose pode ser sugerida com base em aspectos tomográficos, devendo os radiologistas estar atentos a esta possibilidade, pois estudos iniciais indicam aumento da mortalidade nesses pacientes.

10.
Radiol Bras ; 53(5): 287-292, 2020.
Article in English | MEDLINE | ID: mdl-33071371

ABSTRACT

OBJECTIVE: To analyze the computed tomography (CT) findings of lymphocytic interstitial pneumonia (LIP). MATERIALS AND METHODS: We retrospectively reviewed the clinical and CT findings of 36 patients with LIP, including 25 women and 11 men, with a mean age of 52.5 years (age range, 22-78 years). RESULTS: The main associated diseases with LIP were Sjögren syndrome (42%), human immunodeficiency virus infection (17%), amyloidosis (17%), Sjögren syndrome associated with secondary amyloidosis (11%), idiopathic (8%), and systemic lupus erythematosus (5%). The predominant CT abnormalities were multiple cystic airspaces (n = 35), small nodules (n = 15), ground-glass opacities (n = 13), bronchiectasis and/or bronchiolectasis (n = 8), and thickening of the bronchovascular bundles (n = 8). Other CT findings included reticular opacities (n = 7), calcified nodules (n = 4), airspace consolidation (n = 4), emphysema (n = 3), honeycombing (n = 3), lymph node enlargement (n = 2), mosaic attenuation pattern (n = 1), and cavitated nodules (n = 1). CONCLUSION: The main CT findings of LIP were multiple cysts, small nodules, and ground-glass opacities.


OBJETIVO: Analisar os achados da tomografia computadorizada da pneumonia intersticial linfocítica. MATERIAIS E MÉTODOS: Trinta e seis pacientes com diagnóstico de pneumonia intersticial linfocítica (25 mulheres, 11 homens; faixa etária de 22 a 78 anos; idade média de 52,5 anos) tiveram os achados clínicos e tomográficos revisados retrospectivamente. RESULTADOS: As principais doenças associadas à pneumonia intersticial linfocítica foram síndrome de Sjögren (42%), infecção pelo HIV (17%), amiloidose (17%), síndrome de Sjögren associada a amiloidose secundária (11%), síndrome de Sjögren idiopática (8%) e lúpus eritematoso sistêmico (5%). As alterações predominantes na TC consistiram em múltiplos espaços aéreos císticos (n = 35), pequenos nódulos (n = 15), opacidades em vidro fosco (n = 13), bronquiectasias e bronquiolectasias (n = 8) e espessamento de feixes broncovasculares (n = 8). Outros achados da TC incluíram opacidades reticulares (n = 7), nódulos calcificados (n = 4), consolidação do espaço aéreo (n = 4), enfisema (n = 3), faveolamento (n = 3), linfonodomegalia linfática (n = 2), padrão de atenuação em mosaico (n = 1) e nódulos escavados (n = 1). CONCLUSÃO: Os principais achados tomográficos observados em pacientes com pneumonia intersticial linfocítica foram múltiplos cistos, pequenos nódulos e opacidades em vidro fosco.

11.
Radiol. bras ; 53(5): 287-292, Sept.-Oct. 2020. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1136097

ABSTRACT

Abstract Objective: To analyze the computed tomography (CT) findings of lymphocytic interstitial pneumonia (LIP). Materials and Methods: We retrospectively reviewed the clinical and CT findings of 36 patients with LIP, including 25 women and 11 men, with a mean age of 52.5 years (age range, 22-78 years). Results: The main associated diseases with LIP were Sjögren syndrome (42%), human immunodeficiency virus infection (17%), amyloidosis (17%), Sjögren syndrome associated with secondary amyloidosis (11%), idiopathic (8%), and systemic lupus erythematosus (5%). The predominant CT abnormalities were multiple cystic airspaces (n = 35), small nodules (n = 15), ground-glass opacities (n = 13), bronchiectasis and/or bronchiolectasis (n = 8), and thickening of the bronchovascular bundles (n = 8). Other CT findings included reticular opacities (n = 7), calcified nodules (n = 4), airspace consolidation (n = 4), emphysema (n = 3), honeycombing (n = 3), lymph node enlargement (n = 2), mosaic attenuation pattern (n = 1), and cavitated nodules (n = 1). Conclusion: The main CT findings of LIP were multiple cysts, small nodules, and ground-glass opacities.


Resumo Objetivo: Analisar os achados da tomografia computadorizada da pneumonia intersticial linfocítica. Materiais e Métodos: Trinta e seis pacientes com diagnóstico de pneumonia intersticial linfocítica (25 mulheres, 11 homens; faixa etária de 22 a 78 anos; idade média de 52,5 anos) tiveram os achados clínicos e tomográficos revisados retrospectivamente. Resultados: As principais doenças associadas à pneumonia intersticial linfocítica foram síndrome de Sjögren (42%), infecção pelo HIV (17%), amiloidose (17%), síndrome de Sjögren associada a amiloidose secundária (11%), síndrome de Sjögren idiopática (8%) e lúpus eritematoso sistêmico (5%). As alterações predominantes na TC consistiram em múltiplos espaços aéreos císticos (n = 35), pequenos nódulos (n = 15), opacidades em vidro fosco (n = 13), bronquiectasias e bronquiolectasias (n = 8) e espessamento de feixes broncovasculares (n = 8). Outros achados da TC incluíram opacidades reticulares (n = 7), nódulos calcificados (n = 4), consolidação do espaço aéreo (n = 4), enfisema (n = 3), faveolamento (n = 3), linfonodomegalia linfática (n = 2), padrão de atenuação em mosaico (n = 1) e nódulos escavados (n = 1). Conclusão: Os principais achados tomográficos observados em pacientes com pneumonia intersticial linfocítica foram múltiplos cistos, pequenos nódulos e opacidades em vidro fosco.

12.
Br J Radiol ; 93(1108): 20190635, 2020 Apr.
Article in English | MEDLINE | ID: mdl-31944831

ABSTRACT

The clinical diagnosis of pulmonary embolism is often difficult, as symptoms range from syncope and chest pain to shock and sudden death. Adding complexity to this picture, some patients with non-diagnosed pulmonary embolism may undergo unenhanced imaging examinations for a number of reasons, including the prevention of contrast medium-related nephrotoxicity, anaphylactic/anaphylactoid reactions and nephrogenic systemic fibrosis, as well as due to patients' refusal or lack of venous access. In this context, radiologists' awareness and recognition of indirect signs are cornerstones in the diagnosis of pulmonary embolism. This article describes the indirect signs of pulmonary embolism on chest X-ray, unenhanced CT, and MRI.


Subject(s)
Magnetic Resonance Imaging/methods , Multimodal Imaging/methods , Pulmonary Embolism/diagnostic imaging , Tomography, X-Ray Computed/methods , Diagnosis, Differential , Humans , Incidental Findings , Lung Diseases/diagnostic imaging , Pulmonary Artery/diagnostic imaging , Pulmonary Infarction/diagnostic imaging , Thrombosis/diagnostic imaging
13.
J Bras Pneumol ; 45(1): e20170438, 2019 Feb 25.
Article in English, Portuguese | MEDLINE | ID: mdl-30810644

ABSTRACT

OBJECTIVE: To determine the incidence of the reversed halo sign (RHS) in patients with pulmonary infarction (PI) due to acute pulmonary embolism (PE), detected by computed tomography angiography (CTA) of the pulmonary arteries, and to describe the main morphological features of the RHS. METHODS: We evaluated 993 CTA scans, stratified by the risk of PE, performed between January of 2010 and December of 2014. Although PE was detected in 164 scans (16.5%), three of those scans were excluded because of respiratory motion artifacts. Of the remaining 161 scans, 75 (46.6%) showed lesions consistent with PI, totaling 86 lesions. Among those lesions, the RHS was seen in 33 (38.4%, in 29 patients). RESULTS: Among the 29 patients with scans showing lesions characteristic of PI with the RHS, 25 (86.2%) had a single lesion and 4 (13.8%) had two, totaling 33 lesions. In all cases, the RHS was in a subpleural location. To standardize the analysis, all images were interpreted in the axial plane. Among those 33 lesions, the RHS was in the right lower lobe in 17 (51.5%), in the left lower lobe in 10 (30.3%), in the lingula in 5 (15.2%), and in the right upper lobe in 1 (3.0%). Among those same 33 lesions, areas of low attenuation were seen in 29 (87.9%). The RHS was oval in 24 (72.7%) of the cases and round in 9 (27.3%). Pleural effusion was seen in 21 (72.4%) of the 29 patients with PI and the RHS. CONCLUSIONS: A diagnosis of PE should be considered when there are findings such as those described here, even in patients with nonspecific clinical symptoms.


Subject(s)
Computed Tomography Angiography/methods , Pulmonary Artery/diagnostic imaging , Pulmonary Embolism/diagnostic imaging , Pulmonary Embolism/epidemiology , Pulmonary Infarction/diagnostic imaging , Pulmonary Infarction/epidemiology , Acute Disease , Adult , Aged , Aged, 80 and over , Brazil/epidemiology , Cross-Sectional Studies , Female , Humans , Incidence , Lung/diagnostic imaging , Lung/pathology , Male , Middle Aged , Pleural Effusion/epidemiology , Pulmonary Artery/pathology , Pulmonary Embolism/pathology , Pulmonary Infarction/pathology , Retrospective Studies , Young Adult
14.
J. bras. pneumol ; 45(1): e20170438, 2019. graf
Article in English | LILACS | ID: biblio-984618

ABSTRACT

ABSTRACT Objective: To determine the incidence of the reversed halo sign (RHS) in patients with pulmonary infarction (PI) due to acute pulmonary embolism (PE), detected by computed tomography angiography (CTA) of the pulmonary arteries, and to describe the main morphological features of the RHS. Methods: We evaluated 993 CTA scans, stratified by the risk of PE, performed between January of 2010 and December of 2014. Although PE was detected in 164 scans (16.5%), three of those scans were excluded because of respiratory motion artifacts. Of the remaining 161 scans, 75 (46.6%) showed lesions consistent with PI, totaling 86 lesions. Among those lesions, the RHS was seen in 33 (38.4%, in 29 patients). Results: Among the 29 patients with scans showing lesions characteristic of PI with the RHS, 25 (86.2%) had a single lesion and 4 (13.8%) had two, totaling 33 lesions. In all cases, the RHS was in a subpleural location. To standardize the analysis, all images were interpreted in the axial plane. Among those 33 lesions, the RHS was in the right lower lobe in 17 (51.5%), in the left lower lobe in 10 (30.3%), in the lingula in 5 (15.2%), and in the right upper lobe in 1 (3.0%). Among those same 33 lesions, areas of low attenuation were seen in 29 (87.9%). The RHS was oval in 24 (72.7%) of the cases and round in 9 (27.3%). Pleural effusion was seen in 21 (72.4%) of the 29 patients with PI and the RHS. Conclusions: A diagnosis of PE should be considered when there are findings such as those described here, even in patients with nonspecific clinical symptoms.


RESUMO Objetivo: Verificar a incidência do sinal do halo invertido (SHI) associado a infartos pulmonares (IP) relacionados ao tromboembolismo pulmonar (TEP) agudo, identificado por angiotomografia (angio-TC) de artérias pulmonares, e demonstrar as principais características morfológicas do SHI. Métodos: Foram avaliadas 993 angio-TCs, após estratificação de risco clínico para TEP entre janeiro de 2010 e dezembro de 2014. TEP foi encontrado em 164 pacientes (16,5%), sendo que três exames foram descartados devido a artefatos de movimentação respiratória. Dos 161 exames restantes, em 75 (46,6%) foram identificadas imagens compatíveis com IP, totalizando 86 lesões; o SHI foi observado em 33 (38,4% dos pacientes) dessas lesões. Resultados: Dos 29 pacientes com lesões características de IP com o SHI, 25 pacientes (86,2%) apresentavam lesão única e 4 (13,8%), lesão dupla. Todas as imagens compatíveis com SHI eram de localização subpleural. Para padronizar a análise, todas as imagens foram interpretadas no plano axial. Em relação à distribuição lobar das 33 lesões, o SHI estava localizado no lobo inferior direito, em 17 (51,5%); no lobo inferior esquerdo, em 10 (30,3%); na língula, em 5 (15,2%) e no lobo superior direito, em 1 (3,0%). Áreas de baixa atenuação no interior dos IPs com o SHI foram observadas em 29 das 33 lesões (87,9%). O SHI apresentava formato ovalado em 24 (72,7%) dos casos e formato arredondado, em 9 (27,3%). Derrame pleural foi encontrado associado aos IP com o SHI em 21 pacientes (72,4%). Conclusões: O achado de imagens com essas características, mesmo em pacientes com sintomatologia inespecífica, deve alertar para a possibilidade do diagnóstico de TEP.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Aged, 80 and over , Young Adult , Pulmonary Artery/diagnostic imaging , Pulmonary Embolism/epidemiology , Pulmonary Embolism/diagnostic imaging , Pulmonary Infarction/epidemiology , Pulmonary Infarction/diagnostic imaging , Computed Tomography Angiography/methods , Pleural Effusion/epidemiology , Pulmonary Artery/pathology , Pulmonary Embolism/pathology , Brazil/epidemiology , Acute Disease , Incidence , Cross-Sectional Studies , Retrospective Studies , Pulmonary Infarction/pathology , Lung/pathology , Lung/diagnostic imaging
15.
Radiol Bras ; 51(5): V-VI, 2018.
Article in English | MEDLINE | ID: mdl-30369675
17.
J. bras. pneumol ; 43(6): 451-455, Nov.-Dec. 2017. graf
Article in English | LILACS | ID: biblio-893874

ABSTRACT

ABSTRACT Objective: To analyze HRCT findings in patients with Niemann-Pick disease (NPD) type B, in order to determine the frequency of HRCT patterns and their distribution in the lung parenchyma, as well as the most common clinical characteristics. Methods: We studied 13 patients (3 males and 10 females) aged 5 to 56 years. HRCT images were independently evaluated by two observers, and disagreements were resolved by consensus. The inclusion criteria were presence of abnormal HRCT findings and diagnosis of NPD type B confirmed by histopathological examination of a bone marrow, lung, or liver biopsy specimen. Results: The most common clinical findings were hepatosplenomegaly and mild to moderate dyspnea. The most common HRCT patterns were smooth interlobular septal thickening and ground-glass opacities, which were both present in all patients. Intralobular lines were present in 12 patients (92.3%). A crazy-paving pattern was observed in 5 patients (38.4%), and areas of air trapping were identified in only 1 case (7.6%). Pulmonary involvement was bilateral in all cases, with the most affected area being the lower lung zone. Conclusions: Smooth interlobular septal thickening, with or without associated ground-glass opacities, in patients with hepatosplenomegaly is the most common finding in NPD type B.


RESUMO Objetivo: Analisar os achados de TCAR em pacientes com doença de Niemann-Pick (DNP) tipo B a fim de avaliar a frequência dos padrões tomográficos e sua distribuição no parênquima pulmonar, além das características clínicas mais frequentes. Métodos: Foram estudados 13 pacientes (3 do sexo masculino e 10 do sexo feminino) com idades variando de 5 a 56 anos. As imagens de TCAR foram avaliadas por dois observadores de forma independente, e os casos discordantes foram resolvidos por consenso. Os critérios de inclusão foram presença de anormalidades na TCAR e diagnóstico confirmado de DNP tipo B por exame anatomopatológico através de biópsias de medula óssea, pulmão ou fígado. Resultados: Os achados clínicos mais comuns foram hepatoesplenomegalia e dispneia leve a moderada. Os padrões tomográficos mais frequentes foram espessamento liso de septos interlobulares e opacidades em vidro fosco, presentes em todos os pacientes. Linhas intralobulares estiveram presentes em 12 pacientes (92,3%). O padrão de pavimentação em mosaico foi observado em 5 pacientes (38,4%). Áreas de aprisionamento aéreo foram identificadas em 1 dos casos (7,6%). O comprometimento pulmonar foi bilateral em todos os casos, sendo o terço inferior dos pulmões a região mais envolvida. Conclusões: O achado de espessamento liso de septos interlobulares, com ou sem opacidades em vidro fosco associadas, em pacientes com hepatoesplenomegalia é o achado mais frequente na DNP tipo B.


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Young Adult , Niemann-Pick Diseases/diagnostic imaging , Lung Diseases/diagnostic imaging , Tomography, X-Ray Computed/methods , Niemann-Pick Diseases/complications , Retrospective Studies , Lung Diseases/etiology
19.
J Bras Pneumol ; 43(6): 451-455, 2017.
Article in English, Portuguese | MEDLINE | ID: mdl-29340494

ABSTRACT

OBJECTIVE: To analyze HRCT findings in patients with Niemann-Pick disease (NPD) type B, in order to determine the frequency of HRCT patterns and their distribution in the lung parenchyma, as well as the most common clinical characteristics. METHODS: We studied 13 patients (3 males and 10 females) aged 5 to 56 years. HRCT images were independently evaluated by two observers, and disagreements were resolved by consensus. The inclusion criteria were presence of abnormal HRCT findings and diagnosis of NPD type B confirmed by histopathological examination of a bone marrow, lung, or liver biopsy specimen. RESULTS: The most common clinical findings were hepatosplenomegaly and mild to moderate dyspnea. The most common HRCT patterns were smooth interlobular septal thickening and ground-glass opacities, which were both present in all patients. Intralobular lines were present in 12 patients (92.3%). A crazy-paving pattern was observed in 5 patients (38.4%), and areas of air trapping were identified in only 1 case (7.6%). Pulmonary involvement was bilateral in all cases, with the most affected area being the lower lung zone. CONCLUSIONS: Smooth interlobular septal thickening, with or without associated ground-glass opacities, in patients with hepatosplenomegaly is the most common finding in NPD type B.


Subject(s)
Lung Diseases/diagnostic imaging , Niemann-Pick Diseases/diagnostic imaging , Adolescent , Adult , Child , Child, Preschool , Female , Humans , Lung Diseases/etiology , Male , Middle Aged , Niemann-Pick Diseases/complications , Retrospective Studies , Tomography, X-Ray Computed/methods , Young Adult
20.
Lung ; 194(4): 511-8, 2016 08.
Article in English | MEDLINE | ID: mdl-27164983

ABSTRACT

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.


Subject(s)
Gaucher Disease/diagnosis , Lung Diseases/diagnostic imaging , Lung Diseases/etiology , Niemann-Pick Diseases/complications , Niemann-Pick Diseases/diagnosis , Bone Diseases/etiology , Cough/etiology , Diagnosis, Differential , Dyspnea/etiology , Humans , Liver Diseases/etiology , Niemann-Pick Diseases/therapy , Respiratory Tract Infections/etiology
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