Participant 119

Participant 119

Symptoms started at 2 days of age, and were characterized by tonic-clonic seizures and respiratory distress requiring hospitalization.

Date of Report

Description

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.

Current Treatments

  • Valproic acid, Cyamemazine, Clonazepam

Prior Treatments

  • Valproic acid, Piracetam

Considered treatments


Previously Considered Diagnoses

  • Progressive myoclonic epilepsy

Genetic Variants of Interest

  • Epilepsy panel, WES

Siblings, age & gender

4-year-old brother


Contact

If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org


Bio

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.


More pictures 

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