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Niemann-Pick disease type B

11p15.3 GA:34400 MIM:607616

Wednesday 15 August 2012

NPDB; acid sphingomyelinase deficiency

Definition: NPD type B is a rare inborn error of metabolism of autosomal recessive inheritance. Patients with Niemann-Pick disease type B (NPDB) have a benign course and prognosis. It is mainly a visceral form without neurologic manifestations despite the massive visceral involvement. NPDB is caused by mutations in the acid lysosomal sphingomyelin phosphodiesterase-1 gene (SMPD1) (MIM.607608)

Digital slides

- Case 52 (HPC:52) : Liver in Niemann-Pick disease type B (NPDB)
- Case 129 (HPC:129) : Lung and liver in Niemann-Pick disease type B (NPDB)

Morphological synopsis

- foamy resident cells and histiocytes in several organs as lung, liver, spleen, kidney.

- large vacuolated foam cells (’NP cells’) on bone marrow biopsy
- sea blue histiocytes
- decreased platelets

Clinical synopsis

Patients with Niemann-Pick disease type B (NPDB) have a benign course and prognosis, while Niemann-Pick disease type A (NPDA) and Niemann-Pick disease type C (NPDC) are always associated with severe neurological involvement. They are known to be complicated with varying degrees of prognosis-determining liver dysfunction. It is mainly a visceral form without neurologic manifestations despite the massive visceral involvement.

- Onset in infancy or childhood
- Variable phenotype
- More common in Ashkenazi Jews
- Allelic disorder to Niemann-Pick disease type A (MIM.257200)
- short stature (less common)
- cherry-red maculae (less common)
- dyspnea
- frequent respiratory infections
- decreased pulmonary diffusion secondary to alveolar infiltration
- diffuse reticular or finely nodular infiltrations
- hepatomegaly
- progressive liver failure (7655746)
-  splenomegaly
- absence of neurologic manifestations

Associations

- generalized AL amyloidosis of kappa type (7655746)

Ultrastructure

- foam cells with lamellar inclusions

Laboratory

- Decreased acid sphingomyelinase activity
- Increased LDL cholesterol
- Increased triglycerides
- Decreased HDL cholesterol

Etiology

- Caused by mutations in the acid lysosomal sphingomyelin phosphodiesterase-1 gene (SMPD1) (MIM.607608)

See also

- lysosomal storage diseases
- Niemann-Pick diseases (NPDs)

  • Niemann-Pick disease type A (NPDA)
  • Niemann-Pick disease type B (NPDB)
  • Niemann-Pick disease type C (NPDC)

References

- Liver and Skin Histopathology in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B). Thurberg BL, Wasserstein MP, Schiano T, O’Brien F, Richards S, Cox GF, McGovern MM. Am J Surg Pathol. 2012 Aug;36(8):1234-46. PMID: 22613999

- Takahashi T, Akiyama K, Tomihara M, Tokudome T, Nishinomiya F, Tazawa Y, Horinouchi K, Sakiyama T, Takada G. Heterogeneity of liver disorder in type B Niemann-Pick disease. Hum Pathol. 1997 Mar;28(3):385-8. PMID: 9042807

Portfolio

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  • Niemann-Pick disease type B