Aug 25, 2021
The participant’s parents began to have concerns about her development when she stopped babbling at 3 months. She started to have different eye movements around 6 months and, when she began walking at 18 months, she walked differently (ataxic gait). She was treated with rituximab, IVIG, and ACTH, which helped her ataxia, but her different eye movements, tremor, and unsteadiness remained. She also struggled with learning how to talk, which continues to be a difficulty for her.
The participant had her first seizure (generalized tonic clonic) at 14 months, which improved after being put on valproic acid. A year later, she started having diarrhea and weight loss and was diagnosed with ulcerative colitis. Soon after, she had daily abdominal pain with episodes of pancreas inflammation (pancreatitis). At the age of 5, she had an episode where she was very confused and unable to recognize her immediate family members. During this episode, she also stumbled and was uncoordinated. These episodes have continued and she currently has them about every week.
In 2019, clinicians and researchers 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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