Niemann-Pick-Krankheit
Metabolic and
storage lung diseases: spectrum of imaging appearances. A 46-year-old woman with Niemann-Pick disease. a HRCT image shows ground-glass opacity with septal thickening (arrowheads) in the upper lobes. Small pleural effusions are present. b HRCT image inferiorly at the level of heart again shows ground-glass opacity with septal thickening (arrowheads). Also seen are bilateral small pleural effusions and adjacent atelectasis (arrow)
Metabolic and
storage lung diseases: spectrum of imaging appearances. A man with Niemann-Pick disease. a, b Contrast-enhanced CT images show extensive ground-glass opacity. Mild septal thickening (arrows) is also present
Niemann-Pick disease (NPD) is actually a collection of a number of distinct autosomal recessive lysosomal storage diseases. They are divided into two groups of two based on the underlying metabolic deficiency:
- deficiency of acid sphingomyelinase
- Niemann-Pick disease type A (NPD-A)
- severe hepatosplenomegaly in infancy
- severe central nervous system involvement, with atrophy or white matter T2 signal increase on MRI
- usually, succumb to the disease by 2 years of age
- Niemann-Pick disease type B (NPD-B)
- hepatosplenomegaly
- minimal CNS involvement
- variable age of onset and more indolent clinical course
- Niemann-Pick disease type A (NPD-A)
- impaired intracellular cholesterol trafficking
- Niemann-Pick disease type C (NPD-C)
- pronounced CNS involvement with atrophy or white matter T2 signal increase on MRI
- mild hepatosplenomegaly
- Niemann-Pick disease type D (NPD-D)
- Nova Scotian ancestry
- Niemann-Pick disease type C (NPD-C)
Siehe auch:
Assoziationen und Differentialdiagnosen zu Niemann-Pick-Krankheit: