Jun 07, 2017
At 3 months, the patient began having seizures (generalized tonic and complex partial seizures), which was confirmed by EEG. A head CT at this time was normal. An MRI at 7 months showed a small head size (microcephaly) and underdeveloped nerve fibers joining the hemispheres of the brain (hypoplasia of the corpus callosum). At 13 months, the patient had a vagal nerve stimulator placed to help resolve the seizures.
The patient also has vision loss (cortical visual impairment), early breast development (premature thelarche), and a G-tube for feeding.
Developmentally, the patient is able to roll over and sit. Before her seizures started, she was able to coo, laugh, and smile. Over time, her development has regressed. Currently she does not talk, smile, or walk.
If this participant sounds like you or someone you know, please contact us
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