Matt Whitehead MD, Presenter: Nothing to Disclose

Audrey Pichair McCarron, Abstract Co-Author: Nothing to Disclose

Andrea Gropman, Abstract Co-Author: Nothing to Disclose

Major teaching points include: 1. Developmental brain defects and inborn errors of metabolism may coexist. Detection of either on imaging studies should prompt a detailed search for the other. 2. Common congenital metabolic disorders with associated structural defects include peroxisomal disease, fatty oxidation defects, dystroglycanopathies, mitochondrial disorders, and amino acidopathies.

-Introduction and background information -Typical structural abnormalities associated with inborn metabolic error subclass -Case presentations 1. Peroxisomal diseases a. Zellwegger syndrome 2. Dystroglycanopathies a. Walker-Warburg syndrome b. Muscle-eye-brain disease 2. Fatty oxidation defects 3. Mitochondrial disorders a. Pyruvate dehydrogenase deficiency b. Respiratory chain defects c. Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) 4. Amino acidopathy a. Nonketotic hyperglycinemia -Summary and conclusions

http://abstract.rsna.org/uploads/2014/14001189/14001189_a63w.pdf

Whitehead, M, McCarron, A, Gropman, A, Structural Brain Anomalies Associated with Inborn Errors of Metabolism.  Radiological Society of North America 2014 Scientific Assembly and Annual Meeting, - ,Chicago IL. http://archive.rsna.org/2014/14001189.html