Journal of Postgraduate Medicine
 Open access journal indexed with Index Medicus & ISI's SCI  
Users online: 877  
Home | Subscribe | Feedback | Login 
About Latest Articles Back-Issues Articlesmenu-bullet Search Instructions Online Submission Subscribe Etcetera Contact
 :: Next article
 :: Previous article 
 :: Table of Contents
 ::  Similar in PUBMED
 ::  Search Pubmed for
 ::  Search in Google Scholar for
 ::  Article in PDF (95 KB)
 ::  Citation Manager
 ::  Access Statistics
 ::  Reader Comments
 ::  Email Alert *
 ::  Add to My List *
* Registration required (free) 

  IN THIS Article
 ::  Discussion
 ::  References
 ::  Article Figures

 Article Access Statistics
    PDF Downloaded204    
    Comments [Add]    
    Cited by others 4    

Recommend this journal


Year : 2004  |  Volume : 50  |  Issue : 4  |  Page : 289-290

Pulmonary involvement in Niemann-Pick type B disease

Department of Radiology, Centre Hospitalier Universitaire Ibn Sina. H˘pital des enfants maladies, Rabat, Morocco

Date of Submission15-May-2004
Date of Decision09-Jun-2004
Date of Acceptance19-Jun-2004

Correspondence Address:
Elkhalil Alymlahi
Department of Radiology, Centre Hospitalier Universitaire Ibn Sina. H˘pital des enfants maladies, Rabat
Login to access the Email id

Source of Support: None, Conflict of Interest: None

PMID: 15623975

Rights and PermissionsRights and Permissions

How to cite this article:
Alymlahi E, Dafiri R. Pulmonary involvement in Niemann-Pick type B disease . J Postgrad Med 2004;50:289-90

How to cite this URL:
Alymlahi E, Dafiri R. Pulmonary involvement in Niemann-Pick type B disease . J Postgrad Med [serial online] 2004 [cited 2022 Nov 29];50:289-90. Available from:

A-six-year-old girl presented with complaint of episodic dyspnoea. Physical examination showed marked splenomegaly and hepatomegaly. Cardiovascular and neurological examinations were normal.

The chest radiograph showed a fine bilateral reticular pattern. Pulmonary function tests showed normal lung volumes and a decreased diffusing capacity. High resolution computed tomographic (CT) scan of the chest showed smooth thickening of the interlobular septa and extensive bilateral ground-glass attenuation. There was no mediastinal lymphadenopathy [Figure - 1] a and b.

Bone marrow biopsy showed infiltration by numerous histiocytes. Some of the histiocytes contained vacuolated cytoplasm whilst others contained granules that stained deep blue with the May-GrŘnwald-Giemsa stain [Figure - 2]. This histological pattern was indicative of Niemann-Pick disease. Confirmation of this diagnosis was obtained by lysosomal enzyme assay that showed undetectable sphingomyelinase activity. Histological examination of the pulmonary biopsy specimen revealed foamy macrophages located in the alveoli and thickening of the alveolar walls. Macrophages also filled the lymphatic spaces around the peripheral bronchi and peripheral pulmonary artery branches, and the sub-pleural and interlobular connective tissues. These cells had small dense nuclei and a fine vacuolated cytoplasm (stained with Giemsa stain). Some giant cell forms were rarely observed. Neither granulomatous reaction nor fibrosis was seen, which confirmed the pulmonary localization of the Niemann-Pick disease.

As the patient had presented with visceral disease without neurological involvement, she was presumed to belong to subtype B of the Niemann-Pick disease.

 :: Discussion Top

The Niemann-Pick disease is a rare inherited autosomal recessive disorder characterized by accumulation of sphingomyelin resulting from deficiency in the production of sphingomyelinase. The excessive sphingomyelin is deposited in the liver, spleen, lungs, bone marrow or brain.[1],[2]

There are several clinical subdivisions of this disorder according to the predominant organs affected. Severity ranges from a clinically obvious acute neuronopathic phenotype (Type A) to a chronic visceral phenotype (Type B), with intact nervous system and moderate sphingomyelinase deficiency. Subacute forms, Niemann-Pick Types C and D, present with involvement of central nervous system without a clear sphingomyelinase deficiency.[1]

The case reported here corresponds to subtype B of the disease. This entity seems to be pan-ethnic without gender predilection and it may manifest at any age, although it is more frequent before the age of 20 years.[1],[2],[3],[4] Symptoms of subtype B appear to remain generally trivial over a long period, with the late development of a restrictive ventilatory defect. Diagnosis can be made in childhood or adulthood by finding hepatosplenomegaly or chronic pulmonary interstitial infiltration on chest radiographs. Other systemic manifestations, such as skin pigmentation, bone involvement, macular abnormalities, and gastrointestinal disorders related to malabsorption, have all been reported in this phenotype.[1],[2]

The radiological appearance of this affection is non-specific, consisting classically of linear strands associated with nodular infiltrates, producing a honeycombing effect that spreads diffusely throughout the lung fields, with a predominance in the bases.[1],[2],[3] High resolution CT findings have been described recently in adults.[3],[4] The high resolution CT pattern consisted of a thickening of the interlobular septa without nodularity, mainly predominant in the lower parts of the lungs, associated with ground-glass opacities that predominated in the upper and middle pulmonary zones.

Pathological examination helps to understand the high resolution CT pattern. The characteristic microscopic feature is an infiltration of lipid-storing foam histiocytes (Pick cells), usually seen within the alveoli, the alveolar walls, and lymphatic interlobular and subpleural spaces, while the pulmonary architecture remains normal.[4] The presence of histiocytes in the interstitial spaces, without granulomatous formation, may account for the smooth thickening of secondary lobule margins in a polygonal distribution as they are seen on high resolution CT slices.[3] Ground-glass opacity seen on high resolution CT slices may be explained by partial filling of the alveolar spaces with Pick cells or by intense cellular infiltration in inter-alveolar walls.[4]

Such high-resolution CT findings remain non-specific. Association of splenomegaly or hepatomegaly should suggest the diagnosis of a storage disease. Demonstrating typical sea-blue histiocytes in the bone marrow aspirate or from the liver in biopsy material and a low sphingomyelinase activity by enzyme assay will confirm the diagnosis.

Other radiological abnormalities have been described in Niemann-Pick Type B disease, such as low-intensity non-enhancing coarse bone marrow pattern on MR imaging, osteoporosis, long bone marrow cavity expansion, metacarpal widening, and massive splenomegaly with low-density splenic nodule(s); but these are less frequent than lung infiltrates.[1]

Evolution of Type B Niemann-Pick disease is usually, but not always, benign. Though the disease may be present for decades, in certain cases a less good prognosis has been observed progressing to hepatic failure and death. Progressive pulmonary infiltration is a major cause of morbidity and mortality. To date, no successful treatment of pulmonary involvement by Niemann-Pick disease has been documented. Whole-lung lavage appears to be a potentially useful treatment.[5]

 :: References Top

1.Muntaner L, Galms A, Chabas A, Herrera M. Imaging features of type-B Niemann-Pick disease. Eur Radiol 1997;7:361-4.  Back to cited text no. 1    
2.Coussement A, Aiem A, Forderer A, Albertini M. The pure visceral form of Niemann-Pick disease in childhood. Review of the literature and report of a case. J Radiol 1988;69:783-5.  Back to cited text no. 2  [PUBMED]  
3.Ferretti GR, Lantuejoul S, Brambilla E, Coulomb M. Pulmonary involvement in Niemann-Pick disease subtype B: CT findings. J Comput Assist Tomogr 1996;20:990-2.  Back to cited text no. 3  [PUBMED]  
4.Duchateau F, Dechambre S, Coche E. Imaging of pulmonary manifestations in subtype B of Niemann-Pick disease. BJR 2000;74:1059-61.  Back to cited text no. 4    
5.Nicolson AG, Wells AU, Hooper J, Hansell DM, Kelleher A, Morgan C. Successful Treatment of Endogenous Lipoid Pneumonia due to Niemann-Pick Type B Disease with Whole-Lung Lavage. Am J Respir Crit Care Med 2002;165:128-31.  Back to cited text no. 5    


[Figure - 1], [Figure - 2]

This article has been cited by
1 Radi{dotless}ologi{dotless}c Findi{dotless}ngs of Pulmonary Involvement of Type B Ni{dotless}emann-Pi{dotless}ck Di{dotless}sease | [Hallazgos radiolˇgicos de afectaciˇn pulmonar por enfermedad de Niemann-Pick tipo]
Ozkurt, H., Toksoy, G., Basak, M.
Archivos de Bronconeumologia. 2010; 46(4): 208-209
2 Nitric oxide-enhanced caspase-3 and acidic sphingomyelinase interaction: A novel mechanism by which airway epithelial cells escape ceramide-induced apoptosis
Castillo SS, Levy M, Wang CB, et al.
EXPERIMENTAL CELL RESEARCH. 2007; 313 (4): 816-823
3 Common symptoms for rare diseases | [Sintomi comuni per malattie rare: Un approccio generale del pediatra ai pazienti con malattie rare]
Tornese, G., Declich, V., Ciana, G., Marchetti, F., Barbi, E.
Medico e Bambino. 2007; 26(4): 230-236
4 Systemic diseases and the lung
Dinwiddie R, Sonnappa S
Paediatric Respiratory Reviews. 2005; 6(3): 181-189


Print this article  Email this article
Previous article Next article
Online since 12th February '04
ę 2004 - Journal of Postgraduate Medicine
Official Publication of the Staff Society of the Seth GS Medical College and KEM Hospital, Mumbai, India
Published by Wolters Kluwer - Medknow