Presentation
Known, genetically-proven, Niemann-Pick disease type C. Presented symptomatically at 7 years of age.
Patient Data
Age: 12 years old
Gender: Female
From the case:
Niemann-Pick disease type C
Download
Info
Diffuse moderate brain atrophy and mild periventricular and subcortical white matter T2 hyperintensity with sparing of U fibres.
Case Discussion
Characteristic neuroimaging findings in a genetically-proven case of Niemann-Pick disease type C.
Unable to process the form. Check for errors and try again.