Benign Intercranial Hypertension

[Looking For Info]

My child is 6yrs. Born 1 1/2 mnth preemie. Jaundice at birth, chronic otitis media for 1yr and several UTI.  Also 1 kidney was smaller. Finally solved those problems. Diagnosed w unknown syndrome and mild /mod sleep apnea. Has very high pain threshold. About 10 months ago Opthamology found Optic nerve swollen in backs of both eyes. 2 LP opening pressure 360 or above. MRI/MRV both done came back clean. Spinal Fluid also came back clear. No Vitamin A toxicity. Several Blood tests done all clear. Genetics-main testing done all came back normal. First Diagnsed with PTC but changed to Benign Intercranial Hypertension. Dr can't find problem. Dr thought T&A would help reduce pressure, no success. Recently went back to opthamology after having T&A done over a mnth ago condition is getting worse. Optical Nerve is starting to show sings of paleing. On one of the LP removed fluid brought pressure to 240 appetite increased, grew 3 in, gained 3 lbs, since then apptite reduced & stopped growing. Also is now complaining of pains in legs and lower joints. Allergic to many meds. Also has asthma. Dr says putting in a shunt will reduce life expectency to 22 yrs. He has learning disabilitys, getting therapy for fine motor cordination and speech. Small stature, delayed growth, wght 38lbs. (About the size of a 3 yr old.)  Unique voice, maxofacial & breast plate deformaties, Low inset nipples, small chin, wide set eyes, umbilical hernia, low hairline. "Unique Looking" I was wonedering if you might have a suggestion on what to look at next?? Also what is the difference between PTC and BIH?

[CCF-Neuro-M.D.-PW]

I cannot give you a clinical diagnosis over the internet, unfortunately, so I will try to answer several questions

PTC and BIH are the same entity, a descriptive term for increased pressure in the cerebrospinal fluid system of unkown cause, and no obstructing growth. It is not a cause as such, In some cases, it is thought that increased pressure in the cerebral venous system from blood clots may be the cause, and a finely detailed type of MRI scan revealed this in one research study. Again an MRI must be normal and exlucde any mass. Shunting is usually considered if the increased pressure is causing loss of vision - I do not know if you childs vison has been documented to be abnormal by testing visual fields or evoked potentials. Shunting should not reduce life expectancy by itself, but can be complicated by infection, malfunction etc, you need to discuss the pros and cons with your neurologist.

As with the other problems, it may be useful to obtain a genetics consult to make sure there is no identifiable genetic syndrome as an underlying diagnosis. Alternatively with short stature etc, there may be an endocrine (hormone) problem and some blood tests could evaluate for example, an underactive pituitary gland.

Good luck

[LukeL]

While I am not a doctor I have done research into many neurological disroders as I have an undiagonised one and have come across some that sort of fit your child

you may want to look into:

Crouzon syndrome
Noonan syndrome

Crouzon syndrome is quite rare about 1-2 per 100,000 births.

I hope everything works out and I understand that not knowing is terrible even if your child is okay, you want to have a name to go with what is going on.

[ozark]

have they done any spinal mri/ct scans? looking for any spinal causes? good luck

[Looking For Info]

No I asked the Peds Neuro about that yesterday, but he said that that would not be causing these problems. I'm trying to get a second opinion. Also ran tests yesterday for cortozol, thyriod, endocrine, and connective tissue disorders and scheduling another LP, and put on Diamox. Now just waiting.....
Thanks so much for all the suggestions....any other suggestions are greatly appreciated.

[ozark]

has your child been seen at a childrens hospital?
if not he probably should be since he has probably some genetic syndrome...i assume they worked him up metabolicly....if h e has a high tolerance for pain, plus high pressures and lower extremityu issues, i still would ask for a ct of his spine just to rule it out....one never knows ...it cant hurt...do they treat his apnea??  maybe that can cause problems with pressures    my prayers are with you    good luck

[Looking For Info]

He is being seen at a teaching hospital for children. Also he sees genetics, they are stumped as to what symdrome he may have. They have diagnosed him with an "Unknown Syndrome", they know he has a syndrome but they have yet to come up with a diagnosis as to what syndrome?? They have done MRI and MRV on his brain but to what extent they were measured I don't know. Peds Neuro stated it is very possible that there maybe a spinal anomially because of all of the other anomialies but he will not have an MRI of the spine done(dosen't think it is necessary, because he says that is not what is causing the problem). Going in for another LP and getting a second opinion.