Female, age 5 with seizures (tonic seizures and spasms) that are resistant to treatment (refractory), global developmental delay, autism, and intermittent problems with coordination (gait ataxia)
Nov 10, 2020
At 17 months old, the participant began to have seizures (infantile spasms). At their worst, she was having seizures >50 times daily. The participant was treated with many different combinations of seizure medications and underwent a trial of ketogenic diet. At 2 years old she was still having seizures multiple times a day (atonic, tonic-clonic, and infantile spasms). After a corpus callosotomy (brain surgery to separate the connection between the left and right sides of the brain) and additional medication changes, she experienced a period of 10 months with no seizures. At 4 years old, she began having seizures again (tonic seizures and spasms), but they were successfully controlled by medication for 7 months. More recently, she has again been having seizures (tonic seizures and spasms) but notably has gone 2 years without tonic-clonic or atonic seizures.
The participant has global developmental delay that more severely affects her language skills than her motor skills. She walked independently at 18 months of age. She was diagnosed with autism at 3.5 years of age.
The participant also experiences episodes of mild metabolic acidosis (increased acidity of the blood) and problems with coordination (ataxia).
Emergency seizure medications:
Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms. The DPH7 variant is de novo, and the ALDH1L2 variant is maternally inherited.
If this participant sounds like you or someone you know, please contact us!
