Doctor, is this Glutaric Aciduria?

[isthiscp]

My son is nineteen months old and I really need some help! His symptoms briefly are as follows. At seven months old hospitalised after a seizure at home. Had a major seizure in the hosp that night(45 mins). He had kidney ultrasound, lumbar puncture and brain ct. We were told all tests clear. Called back 5 weeks later and asked by the dr had we ever violently shaken our son(he was 8 months at this stage). We have never hurt him and were shocked. The dr said his brain ct showed abnormalities. His ct said "widening of the extra axial spaces particularly arond the frontal and temporal lobes. The csf is very cloudy in these spaces. A possibility of encephalitis should be considered. The lateral and third ventricles are prominent for the childs age" He was then diagnosed as hypotonic. His results form when he was hospitalised was that he had kidney and uti with SEPSIS. At ten months he had an mri. It said " The peri-cerebral fluid spaces are prominent anteriorly. Some white matter remains of high signal. There is widening of the sub-arachnoid space. Widening of the sylvian fissures is noted. This may suggest glutaric aciduria. Is there any clinical suspicion of this?" He has had more seizures, eeg clear for epilepsy. He still has kidney infections, mcug showed no reflux. He has a "reserved" diagnosis of right sided hemaplegic cp. At nineteen months cant even say mama. His urine test came back clear for organic acids. Can this be wrong? They said his chromosome bloods are also clear. One thing that no one has yet been able to give me an explaination for, is why when my son cries his tears "scald" his cheeks and leave red trace marks. Can you give any advice or insight? I would greatly appreciate it.

[Lisa Kessler, MS, CGC]

It sounds like your son has a lot going on.  It may be possible that one genetic condition may account for the different features that you have described.  Searching for a diagnosis is difficult and if found, a diagnosis can help provide information about management, what to expect for the future, and implications for other family members, too.  

You mentioned that you were concerned about glutaric aciduria.  This is a rare genetic condition that can run in the family and cause enzymes to not work properly.  You may have already pursued this, but your son may benefit from a consultation with a medical geneticist.  A medical geneticist will often perform a detailed exam that can guide the genetics tests ordered.  You can find a medical geneticist through the American College of Medical Genetics website.  Best wishes to you and your family.

[isthiscp]

Please help. I already posted in relation to my son who is now 20 months. We saw his nuero 2 days ago and he said my son is a "perfectly normal" child. Despite abnormal mri and ct scans, bloodwork showing abnormalities and many other health issues. What do I do now? In my heart of hearts having spent the last 6 month researching GA-1, as sad as this is for me to say, but I know this is what my son has. He has every symptom, clinical finding and medical history that all points exactly to this disorder. What do I do to help my child? Do you know anyone who can help( I am in Ireland) Many thanks