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----Comment by: KingBent on 5/18/2009 5:29:20 PM Click to add this comment's arrows to the image above

Excellent case with a classic history and EM finding. Neuronal ceroid-lipofuscinoses (NCLs) as a group are the most common hereditary progressive neurodegenerative diseases (prevalence of 1:25,000, incidence 0.1-7 : 100,000 live births with large geographic variance). Given this history LINCL would be prominent on the differential. Other diseases would include a handful of other lysomal storage diseases, mitochondrial diseases and leukodystrophies. An comprehensive review (and ddx) can be found at the NCBI bookshelf ( [Ref #1]).

----Comment by: PathDoc15 on 5/20/2009 6:07:52 AM


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