Developmental Malformations
Joubert syndrome
Jan. 19, 2024
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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 4-year-old patient had a history of flaccid paralysis of the left arm and leg and focal seizure of the left arm. Prior MRI showed a large right occipital lesion that involved the splenium and enhanced strongly in its periphery. A biopsy of the lesion revealed demyelination. A lumbar puncture showed no abnormality of cells, a normal IgG index, and no oligoclonal bands. The patient was well until 4 months later, when she developed right facial twitching followed quickly by facial weakness on the right and slurred speech. She was admitted to the hospital where this MRI scan showed a new large left parietal lesion consistent with Balo concentric sclerosis. (Left) Unenhanced T2-weighted scan. (Right) enhanced T1-weighted scan. (Contributed by Dr. Michael Kaufman.)