Sep 21, 2022
Participant 206 was born at 36 weeks gestation. Delivery was induced due to a suspected enlarged bladder and fluid in one kidney (mild unilateral hydronephrosis). At birth, he was noted to be “floppy” (congenital myopathy). Within a week, the participant underwent a procedure called a vesicostomy to assist with draining urine from the bladder.
The participant also has a history of several complex abdominal abnormalities (prune belly syndrome). As a result, the participant’s testicles decreased in size (bilateral testicular atrophy). This has been treated through multiple urinary and gastrointestinal surgeries. Due to prune belly syndrome, the participant has difficulties with digestion (gastrointestinal dysmotility), so he began receiving his nutrients via total parenteral nutrition (TPN) at 2.5 years of age.
The participant had his first recognized stroke at approximately 2.5 years of age and had multiple additional strokes between ages 8 at 12 years of age. Imaging of his brain showed severe narrowing (stenosis) and straightening of the arteries, which has gotten worse over time. Some evidence of inflammation of the arteries of the brain was also seen.
Growing up, the participant met all developmental milestones. His parents report his history of multiple strokes has contributed to his later decreased cognitive abilities. The participant does well with math, but he has difficulties with verbal and written comprehension. He is able to walk and type, but sometimes utilizes a wheelchair and a scribe when tired. Physical therapy has improved strength in his left leg but recovery has been slower in his left hand. He types and plays video games primarily using his right hand.
In his teens, the participant developed severe curvature of the spine (scoliosis). He underwent spinal fusion surgery to correct this at 16 years of age and is still recovering with ongoing physical therapy.
The participant’s UDN team believes that he has a form of multisystemic smooth muscle dysfunction caused by a new (de novo) change in the gene MIR145.
Due to prune belly syndrome and its treatment:
Due to strokes:
Clinicians and researchers have identified the following de novo 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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