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Year : 2009  |  Volume : 4  |  Issue : 2  |  Page : 143

Glutaric aciduria type1: CT diagnosis

Department of Radiodiagnosis, KMC Hospital, Attavar, Mangalore - 575 001, Karnataka, India

Date of Web Publication29-Oct-2009

Correspondence Address:
Santosh P.V Rai
Shristi, 4-35/4(5), Sankeigudde, Bejai New Road, Bejai, Mangalore - 575 004, Karnataka
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/1817-1745.57338

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How to cite this article:
Rai SP. Glutaric aciduria type1: CT diagnosis. J Pediatr Neurosci 2009;4:143

How to cite this URL:
Rai SP. Glutaric aciduria type1: CT diagnosis. J Pediatr Neurosci [serial online] 2009 [cited 2020 Dec 5];4:143. Available from: https://www.pediatricneurosciences.com/text.asp?2009/4/2/143/57338


A 4-year old boy presented with delayed mental growth, speech disturbances and abnormal size of head. Physical examination revealed macrocephaly. There was incomplete achievement of mental milestones. Computed tomographic (CT) scan of brain revealed bilateral frontotemporal atrophy [Figure 1], bilateral enlarged sylvian fissures and few hypodensities in the lentiform nuclei. History did not reveal any evidence of accidental or non-accidental head injury. Biochemical investigations clinched the diagnosis.

Glutaric aciduria type 1 (GA-1) is an autosomal recessive inborn error of lysine, hydroxylysine and tryptophan metabolism that results from a deficiency of glutaryl-CoA dehydrogenase.

Common features on neuroimaging include increased spaces anterior to the frontotemporal lobes [Figure 2] (vs. frontotemporal atrophy) wide sylvian fissures, (giving a "bat-wing" formation) and prominent interhemispheric fissures [1] . There may be diffuse hypodensity of the basal ganglia. Widening of the sylvian fissure, mesencephalic cistern and expansion of CSF spaces anterior to the temporal lobes are cardinal signs of GA-1. If combined with abnormalities of the basal ganglia and white matter, GA-1 should be strongly suspected [2] .

A prominent clinical feature of infants and children with glutaric aciduria type 1 is macrocephaly [3] . The finding of very widely open opercula suggests glutaric acidemia type I, and if combined with basal ganglia lesions is almost pathognomonic, especially in a child with macrocephaly [1] .

Conventional T2-weighted and fluid-attenuated inversion recovery magnetic resonance images of the brain showed hyperintensity in the caudates and putamina bilaterally with subtle involvement of the medial frontal lobes. Diffusion-weighted magnetic resonance images showed striking restricted diffusion in the caudates and putamina consistent with acute necrosis. [4]

   References Top

1.Brismar J, Ozand PT. CT and MR of the brain in glutaric acidemia type I: A review of 59 published cases and a report of 5 new patients. AJNR Am J Neuroradiol 1995;16:675-83.  Back to cited text no. 1  [PUBMED]  [FULLTEXT]  
2.Twomey EL, Naughten ER, Donoghue VB, Ryan S. Neuroimaging findings in glutaric aciduria type 1. Pediatr Radiol 2003;33:823-30.  Back to cited text no. 2  [PUBMED]  [FULLTEXT]  
3.Drigo P, Piovan S, Battistella PA, Della Puppa A, Burlina AB. Macrocephaly, subarachnoid fluid collection, and glutaric aciduria type I. J Child Neurol 1996;11:414-7.  Back to cited text no. 3  [PUBMED]  [FULLTEXT]  
4.Santos CC, Roach ES. Glutaric aciduria type I: A neuroimaging diagnosis? J Child Neurol. 2005;20:588-90.  Back to cited text no. 4      


  [Figure 1], [Figure 2]


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