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Another theory suggests that maldevelopment of the brain leads to aqueductal stenosis and subsequent hydrocephalus.
More research is needed to test these theories and others, but by uncovering and understanding how L1 functions, it may be possible to develop targeted therapies to stop disease progression and improve quality of life.
X-linked hydrocephalus is characterized by stenosis, or narrowing, of the aqueduct of Sylvius and severe ventriculomegaly.
It is part of a group of conditions linked by mutations in the L1CAM gene.
The ultimate goal, of course, is to repair or replace inactive L1 before any harm can be done. Jenna Koschnitzy, our Research Programs Director, that provide good background reading to better understand this blog: Neurons – a brain superhighway! In our family, we have had 4 females born with hydrocephalus.
As a result, neurons in the developing brain are both miss-positioned and fail to make the correct connections to other neurons throughout the brain and spinal cord.
My first cousin (George) and his wife had a two boys with different neurological problems and a girl with hyrdrocephalus.
The hydrocephalic daughter gave birth to a daughter with hydrocephalus.
A medium pressure shunt was placed and the ventricles have not decreased in size in 30 days since implantation.
The day he returned from the OR with the shunt, he could close his mouth, open his eyes widely and speak for that day and again lost the ability to do those things within 3 days. I am begging the surgeons to replace the shunt with a programmable version or a low pressure valve because the medium pressure valve is not enabling him to speak or maintain a closed mouth or move his limbs as he was able to do in the first 12 hours following all of the foregoing procedures. He has been in hospital for 4.5 months and has survived 5 pneumonias, G tube infection, bladder infection and sepsis.