Feb 01, 2022
The participant was born at 39 weeks gestation after an uncomplicated pregnancy. Shortly after birth, he was evaluated for feeding difficulties requiring an NG tube which was difficult to pass.
Approximately 1 month after birth, a referral to ENT was made after noting heavy, loud breathing. A CAT scan observed blockage of both nasal passages (bilateral pyriform aperture stenosis) and an abnormal right internal ear (dysplastic lateral semicircular canal). Subsequent imaging by MRI at 7 weeks and by MRI and MRA at 4 months also noted multiple regions with asymmetry (right smaller than left), a pituitary abnormality, and vascular anomaly.
At around 2 months of age, the participant began having seizures confirmed through an EEG, and has since been diagnosed with refractory focal epilepsy. His seizures have been controlled on zonisamide and oxcarbazepine since 2 years of age.
Eye exams have shown physical eye anomalies in the form of outward left eye misalignment (exotropia), mild droopiness in the right eyelid (ptosis), suspected bilateral 4th cranial nerve palsy, and visual impairment caused by the brain (cortical visual impairment).
Evaluation by ENT noted normal hearing. However, a swallow study noted food entering the airway (deep laryngeal penetration), requiring honey-thickened liquids to prevent aspiration. This has resolved with age.
Notably, the participant also has a history of global developmental delay. He began walking independently at 30 months of age and remains non-verbal. Additionally, flatness (plagiocephaly) was seen on the right side of his head which required the use of a helmet to shape his head as he grew.
Currently, the participant sees endocrinology to treat low thyroid hormone levels (free T4 hormone) with hormone replacement therapy. It is not clear if his hypothyroidism is the result of his pituitary abnormality or a medication side effect. The participant and his family spend multiple hours each week on treatments and appointments.
If this participant sounds like you or someone you know, please contact us!
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