Feb 23, 2023
The participant was born at full term via a scheduled c-section due to his mother’s history of Hodgkin’s Lymphoma. He was transferred to the NICU due to poor feeding, vomiting, and a heart murmur. His parents also noted that he had a high-pitched cry.
At 4 days old an echocardiogram revealed several heart abnormalities (bicuspid aortic valve, mild aortic stenosis, and dilated ascending aorta). The participant was also diagnosed with increased thickness of the heart (hypertonic cardiomyopathy) and was treated with Propranolol.
At 1 month of age, a brain MRI revealed a collection of fluid in the brain (subdural hygromas) which resolved by 6 months of age. A region of the brain was also noted to be thinner than expected (thinning of the corpus callosum).
At 6 months of age, the participant was diagnosed with a small head size (microcephaly) and seizures (infantile spasms). His mother described the seizures as leaning forward, clenching hands, and eyes rolling to the back of his head every 11 seconds. The participant tried several medications (prednisolone, Topamax, Trileptal, and Sabril) to treat his seizures but none were successful. Later, a 30-day injection of adrenocorticotropic hormone was successful in controlling his seizures. His last reported seizure was in January 2021.
At 28 months the participant was diagnosed with visual impairment caused by the brain (cerebral visual impairment).
The participant rolled over at 1 year of age and sat up at 2 years of age. He was unable to stand or walk at 2.5 years of age. He participates in physical therapy, occupational therapy, speech therapy, feeding therapy, and vision therapy.
Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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