Description
Symptoms started at 3 days of age, with respiratory distress requiring hospitalization for 9 days, followed a month later by seizures with eye rolling. Parents reported global developmental delays (including delays in sitting) and vision impairment. Symptoms have worsened over time .
Symptoms / Signs
- Global developmental delays (unable to speak, can hold his head but cannot sit), drools.
- Has myoclonic seizures, decreased visual acuity, brisk reflexes in the lower limbs and normal reflexes in the upper limbs, flexor plantar reflex.
Current Treatments
- Valproic acid, Piracetam syrup
Prior Treatments
- Valproic acid, Piracetam syrup
Considered treatments
Previously Considered Diagnoses
- Progressive myoclonic epilepsy
Genetic Variants of Interest
- Epilepsy panel, WES
Siblings, age & gender
6-year-old brother
Contact
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org
Bio
Sinaly is a 4-year old boy from Mali. He has had a tough start in life but is a cute little boy who brings joy and love to his family every day.