Neuropathology of Glutaric Acidemia Type 1

J Gordon Millichap
2005 Pediatric Neurology Briefs  
Case 1, a male infant having 6 of 7 older siblings affected by was jittery at birth, a seizure occurred at 3 months, and developmental delay, hypotonia and head bobbing were noted at 4 months, A CT at 6 months showed enlarged ventricles, wide frontal sulci, and fluid collections in the temporal fossae. He presented with vomiting, diarrhea, fever and dehydration at 8 months, becoming rapidly comatose. His head circumference was above the 99th percentile at birth and at 8 months. A repeat CT scan
more » ... s. A repeat CT scan showed hemorrhage in the right temporoparietal region, and he died 3 days later. Autopsy revealed ischemic neuronal damage in the cerebrum and cerebellum, venous sinus thrombosis, dilated ventricles, and striatal, caudate and putamen atrophy, with neuron loss, astrocyte hypertrophy and microglial activation. Four of the 6 cases had macroencephaly, usually in infancy and at the time of the encephalopathic crises, all had striatal, caudate and putamen atrophy, and all brain regions demonstrated elevated GA and 3-OH-GA protein. The characteristic dystonia was reported in 3 patients. The neuropathological findings were similar to those described previously in 10 autopsied cases of other ethnic backgrounds. The role of organic acids as toxic and osmotic agents, and of dietary treatment of presymptomatic cases diagnosed by screening of populations at risk, is discussed. (Funk CBR, Prasad AN, Frosk P et al. Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort. Brain April 2005;128:711-722). (Respond:
doi:10.15844/pedneurbriefs-19-4-1 fatcat:rn4apv3vofhblk74253cca67ia