Presentation
Long medical record of hepatosplenomegaly, hypertriglyceridaemia 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
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 dyspnoea, with marked smooth septal thickening and ground glass opacities, the differentials are broad:
- pulmonary oedema: less likely because there is no history of heart or renal disease)
- lymphocytic interstitial pneumonia (LIP): also presents with GGO, but in children/young people is associated with AIDS
- pulmonary haemorrhage: usually not so uniform
- lymphoma
- leukaemia
- Churg-Strauss syndrome
- Niemann-Pick disease
- amyloidosis: only sometimes visible
- non-specific interstitial pneumonia (NSIP): usually ground glass opacities are also present
- Erdheim-Chester disease
- yellow nail syndrome
- diffuse pulmonary lymphangiomatosis
Here we can see a few auxiliary 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 septal thickening, without a clear preference for any lobe
- patchy ground glass opacities
- calcified micronodules
These findings, although suggestive, are nonspecific.
The patient above has had this diagnosis since childhood, and even though he never performed genetic testing, the diagnosis was made based on his clinical, laboratory and radiological findings.
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