Jun 21, 2019
During the first few months of life, the patient was developing normally. At 1 year old, she started to walk, but would fall frequently. An MRI at this time was normal, but it was recommended that she start physical therapy. She improved significantly with physical therapy and was jumping and climbing stairs by age 3, but still fell more often than other children. Her speech was a bit slow, but there were no concerns about her cognition.
At age 4, she started having episodes where her left leg “wouldn’t work.” When this would happen, she would suddenly stumble or her leg would turn inwards. Around this time, she had a seizure (generalized tonic clonic) in the morning, which lasted about 5 minutes. An EEG was reportedly abnormal and she was started on Levetiracetam. After this seizure event, she had sudden jerking (myoclonic) movements in her left leg. By 5 years old, she could no longer walk due to these movements and had to crawl to get around. By 5 ½, she lost the ability to crawl. She could still sit up and feed herself, but by age 6, she lost her fine motor skills as well. By age 7, she wasn’t eating much, was very sad, and stopped talking. To evaluate for the possibility of an autoimmune cause, Oral steroids were added at this time, which temporarily helped to improve her cognition and mood. Further immunotherapy with IVIG and rituximab was not clearly beneficial.
Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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