Before our first meeting with the genetic counselor we had never heard of Holoprosencephaly. We’ve done a lot of online research and feel like we have an okay grasp of the condition – but out of everything we’ve read I found this graphic to be the easiest way to understand what is happening with our little guy.
Enoch has Semilobar Holoprosencephaly. For those of you following along at home that is the third image in the degree of severity chart. Semilobar is considered the “intermediate” form of HPE. Instead of having two distinct lobes in the front of his brain they are fused together into one structure. It’s called Semilobar as the lobes in the back of the brain are still distinct.
Those dark spaces are the ventricles of the brain – fluid filled spaces. They are also enlarged and combined in HPE. The reason we have no clear sense of outcomes is its impossible to know at this time which specific brain structures are actually effected.
I hope this helps!
*No source is given for the above image as I’ve found it on several university websites – all without a source.
enoch 