Carnitine palmitoyltransferase 1A deficiency
Nov. 30, 2021
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Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
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This 15-year-old girl sustained a head injury complicated by aqueductal stenosis. Examination shows upgaze palsy, left arm tremor, and parkinsonism, which improved markedly after shunting. (Contributed by Dr. Joseph Jankovic.)