Symptoms started at 2 days of age, and were characterized by tonic-clonic seizures and respiratory distress requiring hospitalization. His findings have worsened over time. Parents reported global delays (delay in sitting and walking, inability to talk), a decrease in visual acuity, and insomnia.
Symptoms / Signs
- Drooling, myoclonic jerks, decreased visual acuity, hyperactivity.
- He holds his head and sits without assistance but cannot stand or walk.
- He hasnít been able to speak.
- Brisk reflexes in the lower limbs, normal in the upper limbs, flexor plantar reflex.
- Valproic acid, Cyamemazine, Clonazepam
- Valproic acid, Piracetam
Previously Considered Diagnoses
- Progressive myoclonic epilepsy
Genetic Variants of Interest
- Epilepsy panel, WES
Siblings, age & gender
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at firstname.lastname@example.org
S is a 6-year-old boy from Mali. He is a smiling and cute boy who brings joy and love to his family every day. He is very active and likes playing with his brother.