1. Case of the Month 28 October 2017
History:
50-year-old male known for a splenomegaly since childhood, and a non cirrhotic chronic hepatopathy with portal hypertension, suffering from progressive dyspnea. A chest radiograph was performed, followed by a CT.

2. Case of the Month 28

3. Case of the Month 28

4. Case of the Month 28
What is your diagnosis ?

6. Authors: C.Beigelman-Aubry
Case of the Month 28
October 2017
History:
50-year-old male known for a splenomegaly since childhood, and a non cirrhotic chronic hepatopathy with portal hypertension, suffering from progressive dyspnea. A chest radiograph was performed, followed by a CT.
Question:
What are the key findings on the CXR?
Authors: C.Beigelman-Aubry
Lausanne

7. Case of the Month 28
Bibasal ground glass opacity with mild reticulonodular pattern
Volume loss

8. Case of the Month 28 Mild smooth thickening of interlobular septa
Ground glass opacities with
Septal and intralobular lines in some areas (RLL)
Crazy paving pattern
Micronodules (LLL)
Volume loss

9. Case of the Month 28
Enzyme assay assessment : very low level of sphingomyelinase activity
Bone marrow biopsy: foamy macrophages with « sea-blue histiocytes »
Sequencing of SMPD1 (Sphingomyelin phosphodiesterase 1) gene:
p. Arg6 10del mutation
BAL: alveolar proteinosis excluded, no malignant cell

10. Case of the Month 28
What is your diagnosis ?

11. Niemann-Pick disease subtype B
Case of the Month 28
Niemann-Pick disease subtype B

12. Differential diagnosis
Case of the Month 28
Differential diagnosis
Alveolar proteinosis
Pulmonary edema
Pulmonary infection (viral, PJP, M.pneumoniae)
Pulmonary hemorrhage
Drug-induced pneumonitis
Lymphoid interstitial pneumonia

13. Discussion Case of the Month 28
Niemann-Pick disease is a rare inherited autosomal
recessive disorder characterized by deficiency in production of sphingomyelinase resulting in intracellular deposition of sphingomyelin lipid in various organs
Niemann-Pick subtype B, which does not involve the brain, presents with hepatomegaly, splenomegaly, and pulmonary abnormalities
Pulmonary involvement is a common manifestation of the disease in patients of all ages. It may be asymptomatic or causes respiratory failure. Usually, slow progression is observed in adults with late development of ventilation restriction.

14. Discussion Case of the Month 28
Diagnosis is made by sphingomyelinase assays and bone marrow biopsy showing extensive infiltration with histiocytes, some of which have multivacuolated cytoplasm and contain granules that stain deep blue with May-Grunwald-Giemsa stain (NP cell)
The diagnosis of Niemann-Pick on bone marrow biopsy can only be made after excluding chronic hematologic disorders
In the lungs, pulmonary infiltration with foamy cells (NP cell) in distended alveoli, alveolar walls, and lymphatic interlobular and subpleural spaces, without lung distorsion
No curative treatment, splenectomy contraindicated

15. Discussion Case of the Month 28 CHEST RADIOGRAPHY
Reticular or reticulonodular pattern
± Septal (Kerley B) lines
Main involvement of the lower lung zones
May progress to the entire lung
Pulmonary nodules, some calcified
HIGH-RESOLUTION CT
Mild smooth thickening of interlobular septa mainly in the lower lungs
Patchy, focal or extensive ground-glass opacities
Occasionally intermixed with crazy paving pattern
Centrilobular nodular opacities

16. Further Reading Case of the Month 28 NIEMANN-PICK DISEASE
Mendelson et al. Type B Niemann-Pick disease: findings at chest radiography, thin section CT and pulmonary function testing. Radiology 2006; 238:
Chung et al. Metabolic lung disease: imaging and histopathologic findings. European Journal of Radiology 2005;54: 233–245
Rodrigues et al, Niemann-Pick Disease; High-Resolution CT Findings in Two Siblings. J Comput Assist Tomogr 2004; 28:52–54.
Duchateau et al. Imaging of pulmonary manifestations in subtype B of
Niemann–Pick disease. The British Journal of Radiology 2001; 74 :1059–1061
5) Ferretti et al. Pulmonary involvement in Niemann-Pick disease subtype B: CT findings. Journal of Computer Assisted Tomography 1996; 20(6):