Inborn errors of metabolism

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Inborn errors of metabolism

Last updated on Tuesday, September 9 2008 by jdmiles

Related images:

Neuronal ceroid lipofuscinosis, ultrastructural examination of peripheral blood lymphocytes
Intracytoplasmic vacuoles, particularly large vacuoles imparting a signet rings cell appearance to lymphocytes, may be demonstrated in patients with neuronal ceroid lipofuscinosis, and can be used as part of the diagnostic evaluation.

Sagittal sections through autopsy cerebellum, GM2 gangliosidosis (Tay Sachs disease).
Cerebellar atrophy is the most common neuroimaging manifestation identifiable in patients with subacute juvenile GM2 gangliosidosis.

Familial myoclonic epilepsy, high power H&E stained section of brain
Lafora bodies appear similar to corpora amylacea, with a very important distinction that they are present within the cytoplasm of neurons. The Lafora bodies are the purple blobs in the neurons.