May 12, 2021
On prenatal ultrasound, the participant was found to have an increased measurement at the back of the neck (thickened nuchal fold), an abnormally bright spot on the bowel (echogenic bowel), and excess fluid in her kidneys. Although the pregnancy was classified as high risk due to these ultrasound findings, the participant was born at full term with no complications.
Following birth, the participant was noted to have differences in her physical features (large eyes and a wide pupillary distance, small lower jaw/large overbite, low back hairline, coarse, brittle hair, low set ears, and a wide neck). Her development was delayed, as she walked at 19 months and grew more slowly than expected. At 4 years old, she was evaluated for Turner syndrome.
At 8 years old, the participant had her first seizure event with an abnormality in brain electrical activity (EEG abnormality). This led to a brain MRI revealing extensive white matter changes that have been characterized as either bilateral cysts or fluid filled spaces in the brain (perivascular spaces). Her last known seizure occurred at 9 years old. She is not on any anti-seizure medications but is using CBD oil daily at bedtime.
At 8 years old, the participant also began to experience sleep disturbances with night terrors, sleep walking, and visual hallucinations. These symptoms worsened with methylphenidate and Guanfacine but have been more effectively controlled with the use of Abilify.
The participant has been tested and treated for ADHD, bilateral mild to moderate hearing loss, and an auditory processing disorder.
Since the participant’s assessment with the UDN, her condition has been complicated by a large fluid-filled bead-like sac at the spinal base (Tarlov cyst in the sacrum).
Developmentally, the participant has had some motor delays, social developmental delays, mild to moderate intellectual disability, and executive dysfunction. She also has a history of poor balance and frequent falls. She currently has an individualized education program (IEP) in place.
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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