Participant 104

Participant 104

9 year old boy with intractable epilepsy. He can not walk, crawl, speak. He does have different sounds and has involuntary movements of the hands. He have his hands in his mouth a lot.

Date of Report

Description

The boy has intractable epilepsy. He can not walk, crawl, speak. He does have different sounds and has involuntary movements of the hands.
He have his hands in his mouth a lot. He has done several MRIs and lumbar punctures and also muscle biopsy, but all looks good.
He was born normally and developed normally until the age of 6-7 months.
At the age of 11 months he started to scream for 5 months. Later the epilepsy was discovered.


Symptoms / Signs

  • Intractable Epilepsy

Current Treatments

  • Ketogenic diet

Prior Treatments

  • Different Epilepsy medications

Considered treatments

  • None

Previously Considered Diagnoses

  • Atypical Rett syndrome

Genetic Variants of Interest

  • Ongoing investigation - but nothing found yet

Contact

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


More pictures 

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