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Pediatric Radiology

Published in:

01-10-2015 | Original Article

Glutaric aciduria type 1: neuroimaging features with clinical correlation

Authors: Shaimaa Abdelsattar Mohammad, Heba Salah Abdelkhalek, Khaled A. Ahmed, Osama K. Zaki

Published in: Pediatric Radiology | Issue 11/2015

Abstract

Background

Glutaric aciduria type 1 is a rare neurometabolic disease with high morbidity.

Objective

To describe the MR imaging abnormalities in glutaric aciduria type 1 and to identify any association between the clinical and imaging features.

Materials and methods

MRI scans of 29 children (mean age: 16.9 months) with confirmed diagnosis of glutaric aciduria type 1 were retrospectively reviewed. Gray matter and white matter scores were calculated based on a previously published pattern-recognition approach of assessing leukoencephalopathies. Hippocampal formation and opercular topography were assessed in relation to the known embryological basis. MRI scores were correlated with morbidity score.

Results

The most consistent MRI abnormality was widened operculum with dilatation of the subarachnoid spaces surrounding underdeveloped frontotemporal lobes. Incomplete hippocampal inversion was also seen. The globus pallidus was the most frequently involved gray matter structure (86%). In addition to the central tegmental tract, white matter abnormalities preferentially involved the central and periventricular regions. The morbidity score correlated with the gray matter abnormality score (P = 0.004). Patients with dystonia had higher gray matter and morbidity scores.

Conclusion

Morbidity is significantly correlated with abnormality of gray matter, rather than white matter, whether secondary to acute encephalopathic crisis or insidious onset disease.

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Title: Glutaric aciduria type 1: neuroimaging features with clinical correlation
Authors: Shaimaa Abdelsattar Mohammad
Heba Salah Abdelkhalek
Khaled A. Ahmed
Osama K. Zaki
Publication date: 01-10-2015
Publisher: Springer Berlin Heidelberg
Published in: Pediatric Radiology / Issue 11/2015
Print ISSN: 0301-0449
Electronic ISSN: 1432-1998
DOI: https://doi.org/10.1007/s00247-015-3395-8

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Glutaric aciduria type 1: neuroimaging features with clinical correlation

Abstract

Background

Objective

Materials and methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Objective

Materials and methods

Results

Conclusion

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