Nov 05, 2018
When the participant was very young, she had trouble feeding and would vomit frequently. She was diagnosed with gastrointestinal dysmotility and also found to have low tone (hypotonia) and some motor delays.
At the age of 2, the participant began to have seizures. During these seizures, she would stare and “be in a fog”. A brain MRI showed fluid-filled cysts (choroid plexus cyst).
Some of the participant’s other features include intellectual disability, abnormal antibody level (IgA deficiency), tall stature, and long, slender fingers (arachnodactyly).
The participant was found to have a change in the FBN1 gene that was inherited from her mother. Her mother does not have similar symptoms. The participant has some features that overlap with a connective tissue disorder, but it is also possible that she has two different diagnoses that are contributing to her symptoms.
Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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