CASE 1319 Published on 28.02.2002

Teaching Case

Section

Neuroradiology

Case Type

Clinical Cases

Authors

R.N. Sener, T. Yilmaz, E. Altunel, I. Irmak, O. Kitis

Patient

1 years, male

Categories

No Area of Interest ; Imaging Technique MR ;

No Procedure ; No Special Focus ;

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Clinical History

Dystonia, increased head circumference.

Differential Diagnosis List

Glutaric aciduria type 1

Imaging Findings

The patient had progressive dystonia and increased head circumference. Biochemical analyses revealed urinary excretion of high amounts of glutaric acid and 3-hydroxyglutaric acid. A cranial MRI study was performed obtaining T1 and T2-weighted images.

Discussion

Glutaric aciduria type 1 is a rare autosomal recessive disorder of lysine and tryptophan metabolism, caused by a deficiency of glutaryl-CoA dehydrogenase. High levels of urinary excretion of glutaric acid and 3-hydroxyglutaric acid are typical. On the other hand, glutaric aciduria type 2 is caused by a deficiency of ubiquinone oxidoreductase. Methylmalonic aciduria is another example of this type of organic aciduria.

In glutaric aciduria type 1, mitochondrial activity deteriorates and basal ganglia are preferentially involved. Imaging findings mainly reveal basal ganglia and white matter changes. Prominent hypoplasia, especially of the temporal lobes, is also a consistent finding. Hypoplasia of the temporal lobes can be differentiated from bilateral temporal arachnoid cysts, as the latter demonstrate a compression effect to some extent upon surrounding structures.

References

[1] Zafeiriou DI, Zschocke J, Augoustidou-Savvopoulou P, Mauromatis I, Sewell A, Kontopoulos E, Katzos G, Hoffmann GF. Atypical and variable clinical presentation of glutaric aciduria type I.
Neuropediatrics. 2000 Dec;31(6):303-6. (PMID: 11508549)

[2] Martinez Bermejo A, Arcas Martinez J, Roche Herrero MC, Lopez Martin V, Royo A, Merinero B, Garcia MJ, Tendero Gormaz A, Ugarte M. Bilateral hypodensity of the basal ganglia. clinico evolutionary correlation in children.
Rev Neurol. 2001 Jul 16;33(2):101-11. (PMID: 11562866)

[3] Hald JK, Nakstad PH, Skjeldal OH, Stromme P. Bilateral arachnoid cysts of the temporal fossa in four children with glutaric aciduria type I.
AJNR Am J Neuroradiol. 1991 May-Jun;12(3):407-9. (PMID: 2058483)

[4] Altman NR, Rovira MJ, Bauer M. Glutaric aciduria type 1: MR findings in two cases.
AJNR Am J Neuroradiol. 1991 Sep-Oct;12(5):966-8. (PMID: 1950930)

[5] Barkovich AJ. Pediatric neuroimaging. Lippincott Williams & Wilkins, Philadelphia (2000).

Case information