Niemann-Pick disease type B - pulmonary findings

Case contributed by Dr Guilherme P. Stangler

Presentation

28-year-old man with a long medical record of hepatosplenomegaly, hypertriglyceridemia and low HDL-c levels since infancy. In his last medical appointment, he complained about progressive shortness of breath when walking moderate distances.

Patient Data

Age: 28-year-old
Gender: Male

In these axial CT images, it is possible to identify symmetrical smooth thickening of the interlobular and intralobular septa in both lungs, with no clear preference for any pulmonary zone. We can also observe a few centrilobular nodules and homogeneous ground glass opacities, particularly in the lower lobes.

In a young patient presenting worsening dyspnea, with marked smooth septal thickening and ground glass opacities, the differentials are broad:

CT

Additional CT findings (selected images)

Here we can see a few auxiliarry findings that support the diagnosis of Niemann-Pick disease type B, such as: hepatosplenomegaly (with/without calcifications), calcified lung nodules and precocious atherosclerotic disease.

Case Discussion

Niemann-Pick disease is a group of autosomal recessive disorders that share the feature of abnormal storage of sphingomyelin. Common manifestations include splenomegaly and variable neurologic deficits.

Niemann-Pick type B disease manifests as hepatosplenomegaly with onset in infancy, associated with hypersplenism and thrombocytopenia. Patients may also have short stature and adverse lipidic blood profile (low HDL-c, high LCL-c and TG).

In the lungs, the main findings are:

  • smooth interlobular and intralobular septa thickening, without clear preference for any lobe
  • patchy ground glass opacities
  • calcified micronodules

These findings, although suggestive, are nonspecific.

The patient above has this diagnosis since childhood, and even though he never performed genetic testing, the diagnosis was made based in his clinical, laboratory and radiological findings.

 

PlayAdd to Share

Case information

rID: 43712
Case created: 22nd Mar 2016
Last edited: 22nd Mar 2016
System: Chest
Inclusion in quiz mode: Included

Updating… Please wait.
Loadinganimation

Alert accept

Error Unable to process the form. Check for errors and try again.

Alert accept Thank you for updating your details.