The röntgenographic findings in the acute neuronopathic form of Niemann-Pick disease

Abstract

The röntgenographic changes are described in two patients with the acute neuronopathic form of Niemann-Pick disease. These consist of metaphyseal splaying, osteoporosis and the quadrate appearance of the lumbar vertebrae with relatively long pedicles. The parenchymatous involvement is manifested by interstitial lung changes, enlargement of liver, spleen and kidney and distended intestinal loops with an abnormal mucosal pattern associated with prolonged transit time of the contrast material. The differential diagnosis of the above changes is discussed.