School of Medicine and Health Sciences Poster Presentations

Title

Diffusion Tensor Imaging in Ornithine Transcarbamylase Deficiency

Poster Number

271

Document Type

Poster

Publication Date

3-2016

Abstract

The Urea Cycle Disorders (UCDs) are a relatively common (1:8200) group of inborn errors of ammonia metabolism. They have been correlated with a wide range of neurological deficits ranging from mild, nonverbal learning disabilities in heterozygote carriers to coma and death in children with severe deficits in enzymatic function. While severe disease can cause changes visible with normal T1 and T2 MRI, nonverbal learning deficits correlate best with white matter (WM) changes and cannot be detected by T1 or T2 imaging. Diffusion Tensor Imaging (DTI) is an imaging modality used to study WM integrity by analyzing the anisotropic (nonrandom) diffusion of water in the brain.

In this study DTI was used to characterize and further investigate WM changes in patients with partial ornithine transcarbamylase (OTC) deficiency, the most common UCD. The latest edition of TORTOISE, a rigorous program for DTI analysis developed by the Basser/Pierpaoli Lab at the NICHD of the NIH, was used to compare these images with a control group. Preliminary results show qualitative WM differences in the region of the optic radiation. Further DTI characterization of the WM changes seen in UCDs may provide an additional metric for evaluating the efficacy of various treatments for these disorders.

Creative Commons License

Creative Commons License
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License.

Open Access

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Presented at: GW Research Days 2016

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Diffusion Tensor Imaging in Ornithine Transcarbamylase Deficiency

The Urea Cycle Disorders (UCDs) are a relatively common (1:8200) group of inborn errors of ammonia metabolism. They have been correlated with a wide range of neurological deficits ranging from mild, nonverbal learning disabilities in heterozygote carriers to coma and death in children with severe deficits in enzymatic function. While severe disease can cause changes visible with normal T1 and T2 MRI, nonverbal learning deficits correlate best with white matter (WM) changes and cannot be detected by T1 or T2 imaging. Diffusion Tensor Imaging (DTI) is an imaging modality used to study WM integrity by analyzing the anisotropic (nonrandom) diffusion of water in the brain.

In this study DTI was used to characterize and further investigate WM changes in patients with partial ornithine transcarbamylase (OTC) deficiency, the most common UCD. The latest edition of TORTOISE, a rigorous program for DTI analysis developed by the Basser/Pierpaoli Lab at the NICHD of the NIH, was used to compare these images with a control group. Preliminary results show qualitative WM differences in the region of the optic radiation. Further DTI characterization of the WM changes seen in UCDs may provide an additional metric for evaluating the efficacy of various treatments for these disorders.