Neuronal Ceroid Lipofuscinosis

2002 Baylor College of Medicine Department of Neurology Case #71 (History and Physical and Differential Diagnosis):

An 8 year old, "mildly mentally retarded" Caucasian girl presents to the Texas Children's Hospital with progressive worsening of gait.

This patient presented with childhood onset of developmental delay followed by psychomotor regression, seizures, and optic atrophy. Organomegaly was not evident on examination, nor was there a clear family history. MR imaging demonstrated diffuse cortical atrophy.

Click here to see the result in SimulConsult Diagnostic Decision Support with all the findings combined together. 

Even without any laboratory testing, Juvenile Neuronal Ceroid Lipofuscinosis is the clear leader among the diagnoses.

Registration is required to click into the software because access to the software is restricted for legal reasons to medical professionals and students.

If you know of interesting cases in the news, in journals or on open Web sites of hospitals or foundations, please contact us and include enough information for us to find the material. The differential diagnosis will change over time as people mull over the case and submit new information to the database about findings in the relevant diseases.