Oct 17, 2019
The participant’s seizures were first noticed when he was 2 days old. However, they may have started during the pregnancy since some movements were noticed in utero. These seizures were described as small jerking motions. He spent 5 days in the NICU and was discharged with seizure medication. He was started on an additional seizure medication at 1.5 months old. At 3 months old, his seizure medication was doubled due to increased seizure activity. These seizures would last an hour and became more frequent over time. At 12 months old, infantile spasms were noticed and treatment began. At this time, the participant’s regression in eating skills and arm weight bearing normalized. A ketogenic diet was started at 2 years and helped with seizure control.
At 5 months old, the participant was noticed to have signs of developmental delay, including not being able to track or roll over. At 2 years old, he is currently not rolling over or sitting up. He recently began cooing and babbling.
The participant had feeding difficulties and currently has a gastrostomy tube, which has helped with weight gain. Around 10 months old, it was noticed that his head size was small for his age (microcephaly).
The participant was evaluated by ophthalmology and was found to have visual impairment (cortical visual impairment, homonymous hemianopsia) and repetitive, uncontrolled eye movements (nystagmus).
Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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