Nov 18, 2016
Shortly after birth, the patient was found to have pyloric stenosis, a condition in which muscles block food from entering the small intestine. She underwent surgery to correct this at 9 weeks. Currently she has reduced functioning of her stomach and intestines (reduced gastric and intestinal motility) and constipation. She has had trouble gaining weight.
At 3 months, the patient was diagnosed with infantile spasms, which have not been controlled with medication. A brain MRI showed a decrease of white matter and vermis in the brain (progressive diffuse atrophy of the hemispheric white matter and vermis). Her left leg is also bigger and longer than her right leg (hemi-hypertrophy of left leg).
Developmentally, the patient has stopped gaining milestones, but has not regressed. She often has difficulty sleeping through the night.
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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