Mar 04, 2020
The participant was born full-term after an uncomplicated birth. At 10 months, her left eye began to turn inward at times (intermittent esotropia), which progressed to her right eye and became constant. She had surgery at 1 year old, and immediately after was noticed to have abnormal eye movements (downbeating nystagmus). One month after surgery, she developed additional abnormal eye movements (impaired upgaze).
At 13 months old, the participant’s parents became concerned about speech and language delay. At 14 months she had her first MRI due to Nystagmus noted after eye muscle surgery. This MRI resulted in restricted diffusion and abnormal signals. A few months later, she developed sleep and sensory issues and her motor skills plateaued.
At 22 months old she experienced an episode of unresponsiveness. She was found to have too much water in her body (caused by syndrome of inappropriate antidiuretic hormone secretion (SIADH)), which resulted in too little sodium in her blood (hyponatremia). At this time, insomnia was a major problem. A few weeks later, she experienced a seizure and changed in behavior, and an EEG identified seizures (status epilepticus). Her MRI revealed volume loss. The participant was placed in a coma, and experienced severe regression and spasticity following her recovery.
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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