Abstract
Objective
To review the imaging features of glutaric aciduria type 1 (GA-1) in a group of 20 patients, the largest published series to date. To document the findings not previously reported and compare our findings with the imaging characteristics of GA-1 previously reported in the literature.
Materials and methods
For 14 patients the original scans were examined and in the remaining 6, where the imaging was unavailable, the radiology reports were consulted. Nine patients had serial cranial US examinations, 13 had 18 CT scans performed and 14 patients had 39 MRI scans.
Results
Widening of the sylvian fissures and of the fluid spaces anterior to the temporal lobes was seen in 93% of cases. The mesencephalic cistern was also widened in 86%. Abnormal high-signal intensity on T2-weighted (T2-W) images was seen in the basal ganglia and periventricular white matter in 64% of children. Subdural collections were found in 3 patients, all of which resolved spontaneously. Four neonates followed with serial cranial US showed bilateral multiple caudothalamic cysts. Abnormal high signal on T2-W images was seen in the dentate nucleus, substantia nigra and the pontine medial lemniscus in 79, 43 and 64%, respectively.
Conclusions
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.
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References
Haworth JC, Booth FA, Chudley AE, et al (1991) Phenotypic variation in glutaric aciduria type 1: report of fourteen cases in five Canadian Indian kindreds. J Pediatr 118:52–58
Monavari AA, Naughten ER (2000) Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management. Arch Dis Child 82:67–70
Brismar J, Ozand PT (1995) CT and MR of the brain in glutaric acidemia type 1: a review of 59 published cases and a report of 5 new patients. AJNR 16: 675–683
Forstner R, Hoffmann GF, Gassner I, et al (1999) Glutaric aciduria type 1: ultrasonographic demonstration of early signs. Pediatr Radiol 29:138–143
Kyllerman M, Steen G (1980) Glutaric aciduria: a ‘common’ metabolic disorder? Arch Fr Pediatr 37:279
Woelfle J, Kreft B, Emons D, et al (1996) Subdural hemorrhage as an initial sign of glutaric aciduria type 1: a diagnostic pitfall. Pediatr Radiol 26: 779–781
Kohler M, Hoffmann GF (1998) Subdural haematoma in a child with glutaric aciduria type 1. Pediatr Radiol 28:582
Altman NR, Rovira MJ, Bauer M (1991) Glutaric aciduria type 1: MR findings in two cases. AJNR 12:966–968
Hald JK, Nakstad PH, Skjeldal OH, et al (1991) Bilateral arachnoidal cysts of the temporal fossa in four children with glutaric aciduria type 1. AJNR 12:407–409
Mandel H, Braun J, El-Peleg O, et al (1991) Glutaric aciduria type 1. Brain CT features and a diagnostic pitfall. Neuroradiology 33:75–78
Amir N, El-Peleg O, Shalev RS, et al (1987) Glutaric aciduria type 1: Clinical heterogeneity and neuroradiologic features. Neurology 37:1654–1657
Aicardi J, Goutieres F, Saudubray JM, et al (1985) CT scans of infants with glutaric aciduria. Dev Med Child Neurol 27:403–404
Drigo P, Piovan S, Battistella PA, et al (1996) Macrocephaly, subarachnoid fluid collection and glutaric aciduria type 1. J Child Neurol 11:414–417
Superti-Furga A, Hoffmann GF, et al (1997) Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Report from an international meeting. Eur J Pediatr 156:821–828
Leibel RL, Shih VE, Goodman SI, et al (1980) Glutaric academia: a metabolic disorder causing progressive choreoathetosis. Neurology 30:1163–1168
Yager JY, McClarty BM, Seshia SS (1998) CT-scan findings in an infant with glutaric aciduria type 1. Dev Med Child Neurol 30:808–811
Hartley LM, Khwaja OS, Verity CM (2000) Glutaric aciduria type 1 and nonaccidental head injury. Pediatrics 107:174–176
Osaka H, Kimura S, Nezu A, et al (1993) Chronic subdural hematoma, as an initial manifestation of glutaric aciduria type-1. Brain Dev 15:125–127
Hoffman GF, Naughten ER (1998) Abuse or metabolic disorder? Abuse Arch Dis Child 78:399
Morris AA, Hoffman GF, Naughten ER, et al (1999) Glutaric aciduria and suspected child abuse. Arch Dis Child 80:404–405
Makhoul IR, Zmora O, Tamir A, et al (2001) Congenital subependymal pseudocysts: own data and meta-analysis of the literature. Isr Med Assoc J 3:178–183
Hoffmann GF, Athanassopoulos S, Burlina AB, et al (1996) Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 27:115–123
Cho CH, Mamourian AC, Filiano J, et al (1995) Glutaric aciduria: improved MR appearance after aggressive therapy. Pediatr Radiol 25:484–485
Acknowledgement
We acknowledge the contribution of our late colleague, Dr. Dara O’Halpin, who performed many of the US and CT studies.
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Presented at 37th Annual Congress of ESPR, Lisbon, Portugal, May 2000
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Twomey, E.L., Naughten, E.R., Donoghue, V.B. et al. Neuroimaging findings in glutaric aciduria type 1. Pediatr Radiol 33, 823–830 (2003). https://doi.org/10.1007/s00247-003-0956-z
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DOI: https://doi.org/10.1007/s00247-003-0956-z