Lung cyst: An unusual manifestation of Niemann–Pick disease

Baldi, Bruno Guedes; Santana, Alfredo Nicodemos Cruz; Takagaki, Teresa Yae; Fujita, Carmem Lucia; Kairalla, Ronaldo Adib; Carvalho, Carlos Roberto Ribeiro

doi:10.1111/j.1440-1843.2008.01352.x

Cited by 23 publications

(18 citation statements)

References 7 publications

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“…These two features form what is known as a “crazy-paving” pattern, highly non-specific for the disease. Other imaging findings described include nodules, cysts or even lobar emphysema [13] , [14] . It has been noticed though that the imaging extent of disease does not correlate with its severity [15] .…”

Section: Discussionmentioning

confidence: 99%

Pulmonary alveolar proteinosis and Niemann Pick disease type B: An unexpected combination

Sidéris

Josephson

2016

Respiratory Medicine Case Reports

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BackgroundPulmonary involvement in Niemann-Pick disease (NPD) is a common finding, especially in type B. It usually manifests with symptoms of restrictive lung disease appearing in adulthood but showing gradual deterioration over time. Treatment options have been dramatically limited, with whole lung lavage offering only temporary improvement. Pulmonary alveolar proteinosis (PAP) has been previously mentioned as part of lung disease in NPD, but only in rare cases of type C2. This is the first study that reports the coexistence of autoimmune PAP with NPD type B.Case presentationAn 8 year old female patient with the diagnosis of NPD type B and a 2-year history of respiratory symptoms, presented with another episode of severe respiratory distress. Chest imaging revealed a “crazy paving pattern”, raising concern for PAP. After admission to the intensive care unit and application of non-invasive positive pressure ventilation, a whole lung lavage was performed with return of a milky-appearing proteinaceous fluid. Her status post-lavage was markedly improved, while genetic testing placed the diagnosis of autoimmune PAP. The patient was initiated on inhaled GM-CSF treatment and shows a beneficial outcome to date.ConclusionsIn spite of the patient’s symptoms being consistent with NPD type of lung involvement, clinical findings raised the suspicion of an underlying disorder, which surprisingly proved to be PAP. The detection of anti-GM-CSF autoantibodies in our patient allowed the initiation of inhaled GM-CSF treatment, which is likely to prove more beneficial in her prognosis than repeated lung lavages.

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Section: Discussionmentioning

confidence: 99%

Pulmonary alveolar proteinosis and Niemann Pick disease type B: An unexpected combination

Sidéris

Josephson

2016

Respiratory Medicine Case Reports

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“…Among these, severe bronchiolitis has been reported as a presenting feature of the primary Sjögren's syndrome [41], while genetic mutations [42, 43] and other congenital disorders [44] have been recognised as a cause of cysts in the lung with familial spontaneous pneumothorax, and rare lung or extra-pulmonary tumours.…”

Section: Diffuse Parenchymal Lung Diseasesmentioning

confidence: 99%

Clinical highlights from the 2011 ERS Congress in Amsterdam

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Chavannes

Herth³

et al. 2012

Eur Respir J

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This article reports on selected papers pertinent to the most important clinical problems in the field of respiratory medicine. Expert authors from the Clinical Assembly of the European Respiratory Society (ERS) have selected updated reports related to presentations given at the 2011 ERS Annual Congress, which was held in Amsterdam (the Netherlands) and attended by more than 20,000 participants. The hot topics and selected abstracts from the scientific groups of the Clinical Assembly are discussed here in the context of recent literature.

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“…Although they are not predominant, the crazy-paving pattern (2)(3)(4) and lung cysts (5) have been described. Over the course of the disease, spirometry can show mild to moderate restrictive lung disease, reduced diffusing capacity of the lung for carbon monoxide, and significant changes in walk test results, such as a reduction in the distance covered and oxygen desaturation.…”

Section: Marina Silveira Mendesmentioning

confidence: 99%

Transplante hepático em paciente portadora de doença de Niemann-Pick com envolvimento pulmonar

et al. 2012

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Niemann-Pick disease (NPD) is a rare lysosomal storage disorder that is generalized and severe, as well as being characterized by intracellular sphingomyelin accumulation caused by deficiency of sphingomyelinase activity.(1)From a respiratory standpoint, the various types of NPD, including type B, can cause progressive loss of pulmonary function, with suggestive radiological findings. We report the case of a 27-year-old female patient with type B NPD. The patient was initially referred for outpatient treatment in 2003, presenting with a history of hepatosplenomegaly and delayed psychomotor development since childhood. The diagnosis of NPD was confirmed by measuring peripheral leukocyte sphingomyelinase activity, which was found to be decreased (0.009 nmol • h −1• mg −1 of protein; reference value, 0.745of protein). Serology for HIV, hepatitis B, and hepatitis C was negative, as was serology for syphilis (venereal disease research laboratory test). In addition, ANF was negative. Gaucher's disease was ruled out because beta-glucosidase levels were normal. The patient developed ascites and complained of mild dyspnea, being referred to the pulmonology clinic. She underwent a six-minute walk test (six-minute walk distance [6MWD] = 396 m; predicted 6MWD = 724 m), showing intense dyspnea at the end of the test (modified Borg scale score = 9) but no oxygen desaturation (SpO 2 = 97%). Spirometry results were suggestive of restrictive lung disease (FEV 1 = 1.77 L [61% of predicted]; FVC = 2.07 L [57% of predicted]; and FEV 1 /FVC ratio = 85%). A chest X-ray revealed no pulmonary changes. An HRCT scan revealed interlobular septal thickening in the bases and apices, together with right pleural effusion (Figures 1a and 1b). A rare entity, NPD is an autosomal recessive disorder characterized by abnormal accumulation of sphingomyelin in the reticuloendothelial system. Type B NPD has heterogeneous clinical manifestations and is mainly characterized by hepatosplenomegaly and progressive hypersplenism. Neurological involvement is rare; when it does occur, it is mild. The diagnosis is made by careful history taking and physical examination, as well as by determination of sphingomyelinase activity (which is decreased in peripheral leukocytes), together with fibroblast cell culture or analysis of bone marrow biopsy specimens revealing characteristic sea-blue histiocytes. There can be respiratory impairment secondary to macrophage and sphingomyelin accumulation in the distal airways and the alveoli, which leads to gradual deterioration of pulmonary function, reducing exercise tolerance. The clinical manifestations are heterogeneous, ranging from absence of symptoms to respiratory failure, and lung disease can progress to hypoxemia requiring oxygen therapy. (2,3)

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Lung cyst: An unusual manifestation of Niemann–Pick disease

Cited by 23 publications

References 7 publications

Pulmonary alveolar proteinosis and Niemann Pick disease type B: An unexpected combination

Pulmonary alveolar proteinosis and Niemann Pick disease type B: An unexpected combination

Clinical highlights from the 2011 ERS Congress in Amsterdam

Transplante hepático em paciente portadora de doença de Niemann-Pick com envolvimento pulmonar

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