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.