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Imaging features of type-B Niemann-Pick disease
L Muntaner1, A Galmés, A Chabás
1Department of Radiology, Son Dureta University Hospital, Palma de Mallorca, Spain.
Abstract:
We report two cases of a mild form of type-B Niemann-Pick disease manifesting as an adult-onset chronic non-neuropathic clinical picture. Femoral T1- and T2-weighted low-intensity non-enhancing coarse bone marrow pattern was evident on femoral MR associated with splenic hypodense nodule(s) on abdominal CT. The role of imaging is discussed in relation to current techniques of confirmation of this entity based on demonstration of lipid-laden cells within marrow aspirates (which are often sea-blue histiocytes) and sphingomyelinase assay of cultured skin fibroblasts.
Insights
We describe two adult cases of mild Niemann-Pick disease type B presenting without neurological symptoms. Imaging revealed characteristic bone marrow and spleen abnormalities, aiding diagnosis alongside laboratory tests.
Area of Science:
- Medical Imaging
- Genetics and Genetic Diseases
- Biochemistry
Background:
- Niemann-Pick disease type B is a rare lysosomal storage disorder.
- It typically presents in childhood with organomegaly and progressive pulmonary disease.
- Adult-onset, non-neuropathic presentations are less common but recognized.