Jul 01, 2016
During the first few months of life, the patient was noticed to have slow growth and developmental delay. He was not visually tracking, focusing on faces, or responding to some sounds. At 8 months, he was found to have cataracts in both eyes and was diagnosed with infantile spasms. A brain MRI showed mild delays in myelination and mildly decreased brain volume with slightly large ventricles. The patient’s parents also report that when he gets angry or upset, like when trying to urinate or have a bowel movement, he will hold his breath, turn blue, and pass out.
Clinicians and researchers have identified the following de novo genetic change to be causing the participant’s symptoms (Schoch et al, 2017):
If this participant sounds like you or someone you know, please contact us!
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