Participant 118

Participant 118

Symptoms started at 3 days of age, with respiratory distress requiring hospitalization for 9 days, followed a month later by seizures with eye rolling.

Date of Report

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

S 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.


More pictures 

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