Presentation
Child presenting with macrocephaly, developmental delay and hypotonia.
Patient Data
Widening of the Sylvian fissure and enlarged subarachnoid spaces anterior to the temporal lobes.
No abnormal signal abnormalities in the basal ganglia or midbrain.
Posterior periventricular increased T2 signal suggestive of terminal zones of myelination.
Laboratory results
Urine organic acids:
Highly elevated levels of glutaric acid (589umol/mmol Creatinine).
Highly elevated levels of 3-OH glutarate (17.5umol/mmol Creatinine).
Urine creatinine 2.4mmol/L.
Normal thyroid function.
Negative screen for congenital infections.
Case Discussion
Glutaric aciduria Type 1 is caused by an autosomal recessive deficiency of glutaryl-CoA-dehydrogenase.
Characteristic urine organic acid results are diagnostic, but it can be confirmed with genetic testing.
The most frequent feature is widening of the Sylvian fissure and subarachnoid spaces anterior to the temporal lobes. T2 hyperintensities can also be seen in the basal ganglia and midbrain.
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