Multiple neurological issues

[MeganW]

My daughter has been diagnosed with Septo-Optic Dysplasia, hydrocephalus (mild) and ventriculomegaly. We believe that the hydrocephalus and ventriculomegaly are due to subdural hematomas and intraventricular bleeds that she sustained at two months of age. The bleeds have now resolved, but the extra fluid remains.

My daughter also has brachycephaly, and there is some craniofacial distortion. She is one year old. Is she too old for the shaping helmet? Her neurosurgeon seems to not want to treat this issue. I realize that it is a cosmetic issue, but she has enough problems without an oddly-shaped head. What are our options?

Thank you for your time.

[Cleveland Clinic, MD]

First of all, I am sorry to hear about your daughter's problems. Unfortunately I'm an adult neurologist so I do not have the expertise in this subject, but let me give some information that might help you.

Septooptic dysplasia is a rare disorder that results from incomplete development of the parts of the brain and pituitary gland. It is characterized by underdevelopment (hypoplasia) of the optic nerves that transmit impulses from the retina of the eye to the brain; abnormalities of midline structures of the brain such as the septum pellucidum and corpus callosum; and diminished activity of the pituitary gland, the hormone-producing gland at the base of the brain. Most people with septooptic dysplasia have abnormal eye movements (nystagmus) and some affected individuals have partial or complete blindness in one or both eyes. Some affected children have normal intelligence and others have learning disabilities and mental retardation. Deficiencies of certain hormones result in growth retardation and short stature. The cause of septooptic dysplasia is not fully understood. Most cases are thought to occur randomly for unknown reasons, but some families have been reported with more than one affected child, suggesting an inheritance pattern.

I didn't find much information about the association between this condition and the other anomalies you described (the brain bleeds, the craniofacial distorsion). The other condition you described, I'm assuming you meant Brachycephaly; which is a condition where the head is disproportionately wide. this can result from the premature fusion of the skull sutures or from external deformation, like prolonged lying on the back. The treatment of brachycephaly can be either repositioning and /or head banding or surgical correction, depending on the underlying cause (bone fusion vs. positional).

To better evaluate your daugther, I suggest you see a pediatric neurologist, a genetics specialist. and to address the skull deformity issue I believe an evaluation by a pediatric neurosurgeon and/or a craniofacial surgeon to discuss treatment option is a reasonable thing to do.

Good luck.

[autumrain]

Hi Megan and jon I am guessing if i want a medical response this is probably not the right thread to be in, but oh well i can only try, I am sorry to hear about your daughter megan, it is frustrating when they say it is only cosmetic, while as a baby or young child it may not be an issue about her  looks, but I agree with you she will have enough obsticles over life to not get one that can be fixed, done, and done early so she can recover with as little stress as possible.
My son Has 2 arrachnoid cyst's in the brain, one of which has a vp shunt. He is also suffering from alternating intercranial hyer-tension and hypo-tension. They have just realized in the past year that the meniges(sorry about spelling) is very fiborous. I dont really know what that means other than it stops the csf's from draining away as easy as it should and doesnt allow for natural swelling of the brain  as it should.  since diagnosed late 1999 he has had over 10 surgeries.
I have never found anyone with the hypertension and hypo tension before, so i dont know much about it other than it can cause symptoms ranging from dizziness, nausea to severe headaches, all of which he suffers from at times.
Last year he ended up with a severe case of bells palsey  which he is pretty much over, but i have noticed when his headaches get really bad his lip and eye will tend to sag again. Is this normal and because he had the bells palsey will he now get that every time the pressure builds too high?

[MeganW]

Thank you. I appreciate the kind thoughts. Hopefully the neurologist will be able to give some insight, even if they are not a pediatric specialist.

[JonM]

Sorry to read of your daughters problems.  I have no advice to give, but wanted you to know that at least your post was read.  From what I have seen this forum is generally focused at adult issues.  Very little pediatric posts. Likely the cause of the lack of responses. I'll include you in my prayers.