Urea Cycle Disorders: A Neuroimaging Pattern Approach Using Diffusion and FLAIR MRI

ABSTRACT BACKGROUND AND PURPOSE This study aimed to assess characteristic regions of MRI involvement utilizing diffusion weighted imaging (DWI) and fluid‐attenuated inversion recovery (FLAIR) at urea cycle disorder (UCD) diagnosis to determine the possible association between initial MRI patterns wi...

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Bibliographic Details
Published in:Journal of neuroimaging 2021-01, Vol.31 (1), p.144-150
Main Authors: Ozturk, Kerem, McKinney, Alexander M., Nascene, David
Format: Article
Language:English
Subjects:
Abnormalities
Aciduria
Ammonia
Argininosuccinic aciduria
Brain injury
Cerebellum
Cerebral cortex
Corpus striatum
DWI
FLAIR
Head injuries
Hyperammonemia
Magnetic resonance imaging
Medical imaging
Neostriatum
Neuroimaging
Ornithine transcarbamoylase
Substantia alba
Substantia grisea
Urea
urea cycle disorder
Ureas
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Summary:ABSTRACT BACKGROUND AND PURPOSE This study aimed to assess characteristic regions of MRI involvement utilizing diffusion weighted imaging (DWI) and fluid‐attenuated inversion recovery (FLAIR) at urea cycle disorder (UCD) diagnosis to determine the possible association between initial MRI patterns within 10 days of the first hyperammonemia episode, serum ammonia levels, and severity of neurological outcome based on clinical follow‐up of >30 days. METHODS Ten patients with UCDs (4 females; median age: 5.4 years, age range: 6 days‐54 years) were included who underwent MRI during a first episode of hyperammonemia. The topographical distribution of the DWI and FLAIR abnormalities in the cerebral cortex, deep gray matter, white matter, posterior limb of internal capsule, cerebral peduncle, and cerebellum was evaluated. Possible correlations between the brain injury patterns on DWI/FLAIR images, serum ammonia levels, and severity of neurological outcome were investigated by a trend correlation. RESULTS The UCD cohort (n = 10) involved four ornithine transcarbamoylase deficiencies, four argininosuccinic aciduria, one carbomoylphosphate synthetase deficiency, and one citrullinemia type‐1. The observed trend in the distribution of DWI abnormalities as the severity of neurological sequela outcome increased was with diffuse cerebral cortex or corpus striatum involvement. Patients with initial peak serum ammonia ≥450 µmol/L had a grade 2 to 4 outcome, and those with peak ammonia
ISSN:1051-2284
1552-6569
DOI:10.1111/jon.12787