Type I glutaric aciduria is one of the commonest organic acidurias. Diagnosed cases are still few because the presentation is variable and often confusing. The disease may have a slowly progressive course. Typically, it presents in infancy, mimicking acute encephalitis, leaving a previously healthy child severely handicapped with generalized dystonia, spastic quadriplegia or choreo-athetosis. MRI shows large CSF-containing spaces (Sylvian fissure) and abnormal signals in the basal ganglia.
The present paper reports an 8 year-old boy whose disorder began at 18 months with motor difficulties and abnormal posturing of the left sided limbs. When examined he had generalized dystonia, greater on the left, severe dysarthria and tongue dystonia. IQ was normal. MRI showed high T2 signals in the basal ganglia and enlarged CSF-containing spaces. Urinary organic acid chromatography confirmed type I glutaric aciduria. Two of his sisters had died before the age of 2 with a clinical picture of fever, seizures and hypotonia. Another sister had the same symptoms at the same age but lived until 10 years old with severe quadriplegia.
The reported case demonstrates the variability of the clinical picture and course of type I glutaric aciduria even in the same kindred. The authors propose systematic organic acid chromatography in all children with acute or progressive dystonia and basal ganglia abnormalities on MRI. This seems good advice as an appropriate diet might slow progress of the disease.
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