The story of Juliana
Gender: Male
Age: 6 years
Diagnosis: SUSCEPTIBILITY TO ACUTE INFECTIOUS INDUCED ENCEPHALITIS 3.No. OMIM: 608033 mutation in the gene RANBP2
Presence in: Heterozygosis (one copy).
He already suffered 3 encephalitis that were generated by this mutation. One with 8 months, other with 1 year and a half and the most recent this week.
First one was hemorrhage and very injured the part of the talamo;
Second one injured 3 parts in the front part of the brain (both put him in a coma);
Third one injured a part near to talamo.
In the first 2 episodes he was recovering and was already able to walk by himself, the cognitive was backing slowly but he was already able to up and down of the couch.
The last one, left upper and lower limbs in hypothomina.
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The treatment we are doing it’s a oral corticosteroids when he has a fever.
Since the researchs over this area are meager, I AM so happy to found this group…
And I want to know ALL the things you do when the Chile stay sick.
Thanks for everyone
Isaac os my angel…my miracle