Male, age 5, with global developmental delay, generalized low muscle tone, and recurrent respiratory infections
Sep 20, 2022
The participant was born at full term with no complications during pregnancy. He had jaundice during the neonatal period, which was treated with a Biliblanket. At 2 months of age, his pediatrician noticed a decline in weight gain and diagnosed him with failure to thrive. The participant was followed for weight re-checks by a gastroenterologist and a nutritionist. He began experiencing constipation issues, which was treated with a specialty formula (Nutramigen).
At 6 months of age, it was determined that the participant had significant global developmental delay, and an eye anomaly (strabismus). The participant has experienced significant setbacks as a result of recurrent respiratory infections. He has a history of being admitted to the PICU for treatment of these infections.
At around 7 months of age, the participant began eye-patching treatment for his eye anomaly (strabismus). He also rolled over for the first time. At 10 months of age, he began physical therapy treatment.
At 1 and ½ years old, the participant had a brain MRI which revealed brain abnormalities (thin corpus callosum, delayed myelination – since resolved).
At 2 and ½ years of age, the participant was non-verbal and continued to have significant gross and fine motor delays. He continues to receive physical and speech therapy. He is nearsighted and wears glasses. The participant was diagnosed with Growth Hormone Deficiency and has daily growth hormone shots.
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!
