Apr 08, 2019
The participant was born with an undescended testis (unilateral cryptorchidism) and scrotal webbing but was otherwise healthy. When he was 6 weeks old, his parents became concerned that he seemed less alert. An eye exam at this time showed that he had visual impairment. He was also noticed to have developmental delays and decreased muscle tone (hypotonia).
At 12 months old, the participant was hospitalized because he was having seizures. While in the hospital, he was found to have low sodium levels. A brain MRI performed at 18 months showed delayed brain development (myelination). The participant is now 4 ½ years old and can feed himself with a fork. He walks with assistance, but he has taken up to 100 independent steps, and he tires easily when walking. He is non-verbal but is learning to use assistive technologies to communicate.
The participant’s sister has some similar symptoms. It is currently unclear if they have the same condition or a different condition.
If this participant sounds like you or someone you know, please contact us!
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