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Enlargement of the Optic Chiasm: A Novel Imaging Finding in Glutaric Aciduria Type 1

Enlargement of the Optic Chiasm: A Novel Imaging Finding in Glutaric Aciduria Type 1 Published July 8, 2021 as 10.3174/ajnr.A7199 CLINICAL REPORT PEDIATRICS Enlargement of the Optic Chiasm: A Novel Imaging Finding in Glutaric Aciduria Type 1 A.A. Ntorkou, J. Daire, F. Renaldo, D. Doummar, M. Alison, M. Schiff, and M. Elmaleh-Bergès ABSTRACT SUMMARY: Patients with glutaric aciduria type 1, without early diagnosis and initiation of preventive treatment, often develop movement disorders and various degrees of motor disability due to striatal area–specific damage induced by an acute episode of metabolic decompensation. The neuroimaging phenotype of patients with glutaric aciduria type 1 includes characteristic cyst-like bilateral enlargement of the Sylvian fissures and anterior subarachnoid spaces and signal abnormalities including supratentorial white matter and deep gray matter structure T2 hyperintensities, frequently associated with restricted diffusion. In this retrospec- tive study, we add to the neuroimaging spectrum of glutaric aciduria type 1, a novel imaging finding present regardless of a previ- ous metabolic crisis: the enlargement of the optic chiasm associated with signal abnormalities in the anterior intracranial visual structures observed in 6 of 10 patients. These optic pathway abnormalities are suggested as useful diagnostic clues for glutaric aciduria type 1, and possible pathophysiologic mechanisms are discussed. ABBREVIATION: GA-1 ¼ glutaric aciduria type 1 lutaric aciduria http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Neuroradiology American Journal of Neuroradiology

Enlargement of the Optic Chiasm: A Novel Imaging Finding in Glutaric Aciduria Type 1

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Publisher
American Journal of Neuroradiology
Copyright
© 2021 by American Journal of Neuroradiology
ISSN
0195-6108
eISSN
1936-959X
DOI
10.3174/ajnr.A7199
Publisher site
See Article on Publisher Site

Abstract

Published July 8, 2021 as 10.3174/ajnr.A7199 CLINICAL REPORT PEDIATRICS Enlargement of the Optic Chiasm: A Novel Imaging Finding in Glutaric Aciduria Type 1 A.A. Ntorkou, J. Daire, F. Renaldo, D. Doummar, M. Alison, M. Schiff, and M. Elmaleh-Bergès ABSTRACT SUMMARY: Patients with glutaric aciduria type 1, without early diagnosis and initiation of preventive treatment, often develop movement disorders and various degrees of motor disability due to striatal area–specific damage induced by an acute episode of metabolic decompensation. The neuroimaging phenotype of patients with glutaric aciduria type 1 includes characteristic cyst-like bilateral enlargement of the Sylvian fissures and anterior subarachnoid spaces and signal abnormalities including supratentorial white matter and deep gray matter structure T2 hyperintensities, frequently associated with restricted diffusion. In this retrospec- tive study, we add to the neuroimaging spectrum of glutaric aciduria type 1, a novel imaging finding present regardless of a previ- ous metabolic crisis: the enlargement of the optic chiasm associated with signal abnormalities in the anterior intracranial visual structures observed in 6 of 10 patients. These optic pathway abnormalities are suggested as useful diagnostic clues for glutaric aciduria type 1, and possible pathophysiologic mechanisms are discussed. ABBREVIATION: GA-1 ¼ glutaric aciduria type 1 lutaric aciduria

Journal

American Journal of NeuroradiologyAmerican Journal of Neuroradiology

Published: Jul 8, 2021

References