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
{"current_user":null,"step_through_annotations":true,"access":{"can_edit":false,"can_download":true,"can_toggle_annotations":true,"can_feature":false,"can_examine_pipeline_reports":false,"can_pin":false},"extraPropsURL":"/studies/127498/annotated_viewer_json?lang=us"}
Diffuse moderate brain atrophy and mild periventricular and subcortical white matter T2 hyperintensity with sparing of U fibers.
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.