Sep 21, 2018
The participant’s development was typical until the age of three when she experienced sudden regression and lost her ability to speak. She has a history of abnormal brain activity (abnormal EEG) but has not had seizures. She received a diagnosis of Landau-Kleffner syndrome at age 3. She has significant difficulty sleeping and sleeps no more than two hours at night.
Around age 21, she started falling frequently. It is unclear if the falls are caused by muscle disease, motor difficulty, or drop attacks. Her difficulty walking has worsened in the past few year; she can walk short distances with assistance at this time.
Other symptoms include multiple café-au-lait spots, swirling, streaky patches of dark pigmentation on the skin of her arms (hyperpigmentation), autism, obsessive-compulsive behavior, and short stature.
In 2019, clinicians and researchers identified the following genetic changes to be causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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