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Forum Name: Neurology Topics

Question: Pedi Neurology, 18wo Seizures, brain loss, blind etc.


 lamom2boys - Thu May 10, 2007 2:51 pm

I’m in search for help or information on my sons condition. He was born 1/407 at 37 weeks. Ultrasound showed hydrocephalic and ventriculomegaly.
After birth, Head US showed "massively enlarged bilat Lat ventricles w/bilat prominent choroids plexuses on and limited study, absent 3rd and 4th ventricles and no corpus collosum."
Head CT showed "periventricular and ependymal calcifications, microcephaly, ventriculomegaly." Seen by neurosurgery and said not a surgical issue. EEG abnormal. Optomology consult at birth "vitreous hemorrhage in both eyes with question of subarachnoid hemorrhage."
MRI at birth reads "brain and orbits c/w microlissencephaly and symm lateral ventriculomegaly, calcification of the choroids plexus and per ventricular regions, microcephaly, hemorrhages of the posterior globes L>R; NL 3rd and 4th and cerebellum/brainstem. "
In NICU for 20 days. Discharge paperwork says possible congenital TORCH but since then all tests came back negative. Also tested negative for any chromosomal abnormalities.
Now 18 weeks old, blind, severe hearing loss, severe reflux, low temp, seizure disorder, developmentally delayed. Is able to take bottle, but does not cry, laugh or smile. Seizures controlled with Phenobarbital and dilantin. Zantac given for reflux, taken off reglan due to increased severity of seizures. Hospitalized twice since discharged from NICU for failure to thrive and pneumonia.
Because there is no specific “title” for his condition I am having trouble finding information anywhere. We currently see a Neurologist, Optomologist, Pediatrician, Geneticists, Audiologists and Speech Therapists, none of which are able to answer any questions of what happened. I would just like to know if we are doing all we can or is someone missing something here, with all the medical information out there, why cant I find information specific to what we are dealing with?
 Dr. Chan Lowe - Mon Jun 11, 2007 8:53 pm

User avatar The findings you describe make me suspicious of a congenital cytomegalovirus infection. Did they test your son's urine for CMV when he was born? This is the "gold standard" for helping diagnose congenital CMV. CMV is one of the "TORCH" infections.

Regarding your question about work up, it certainly appears that you are seeing everyone that you should be. You may also want the physical therapists and occupational therapist to evaluate and work with him to help him develop some muscle skills/strength.

Best wishes.

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