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glutaric aciduria symptoms ?

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isthiscp

New User, Becoming EHEALTHy
Joined: 11 Apr 2008
Posts: 1
glutaric aciduria symptoms ?
Posted: 04-11-08 17:59pm

My son is nineteen months old and for the past year I have been trying to get answers but with no luck. His history is this: Placid baby but didn't like to be held(bad pregnancy and delivery,vasa previa and comps). Didn't meet any milestones but we weren't too worried, all babies are different,right? Always slumped over,especially to the right and could hold his head up. At seven months old he had a seizure at home. Admitted to hospital for obs.That night he had another major seizure(40 mins) Diagnosis,kidney and uti with sepsis. Ct brain said"non spacific widening of the extra-axial csf spaces particulrlly around the frontal and temporal lobes bilaterally. The csf is very cloudy in these spaces. A possibilty of enchephalitis should be considered. The lateral and 3rd ventricles are prominent for the childs age." Mri done 3 months later. It said "The peri-cerebral fluid spaces are prominent anterior. Some white mater is of high signal. There is a non specific widening of the sub-arachnoid space. Widening of the sylvian fissures is noted. This may be suggestive of glutaric aciduria. Is there any clinical evidence?" He was admited to hospital again at 11 month after another major seizure, again kidney and uti infection(although kidneys when tested showed no reflux). He was diagnosed as hypotonic and his paed has given a reserved diagnosis of right sided hemaplegic cp. He has macrochephaly(above 97th centile) with protruding forehead. He can now walk but at 19 months cant even say mama. Still recurrent kidney infections but organic acid urine came back clear. When he cries his tears "scald" his face and leave red trace marks(no-one can explain this to me) Please can anyone help me as Im at a loss!
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