Jul 22, 2022
The participant was born at 37 weeks gestation. He weighed around 4.9 pounds at birth. He was exposed to many substances before he was born (nicotine, cocaine, heroin, methadone, and oxycodone). After birth, he stayed in the NICU for 5 weeks due to neonatal abstinence syndrome and feeding difficulties. He had low muscle tone (hypotonia) after birth and did not gain weight or grow as expected (failure to thrive).
At around 1 year old, he began to have staring spells and events of abnormal tongue movements and screaming. He was evaluated for possible seizures. He had a normal EEG at this time.
Around 2 years old, he had significant uncoordinated movements (gait ataxia) and difficulty swallowing (dysphagia). His family described episodes where he contracted his head, lower back, and arms (opisthotonos). At this time, he had an abnormal EEG and an MRI that revealed abnormal brain physiology (Type 1 Chiari malformation, crowding of the foreman magnum, low-lying cerebellar tonsils).
After treatment for these findings, his abnormal movements and episodes of screaming have improved but are not completely resolved. He still has staring episodes and difficulty swallowing. Sometimes, his skin will turn yellow (carotenemia). He will sometimes have poor circulation and blue-gray skin (cyanosis) around his lips, fingertips, and the tip of his penis. His family reports that he feels cold and shivers even in warm weather.
Around 3 years old, he began experiencing some headaches. He had regression of some verbal milestones. He responded well to treatment with growth hormone, and his height, weight, and appetite improved.
He currently only eats soft solid foods and receives feeding therapy once a week. He is accompanied by a nurse while he attends preschool.
If this participant sounds like you or someone you know, please contact us!
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