ArticlePediatric radiology2003
Neuroimaging findings in glutaric aciduria type 1.
Article in Pediatric radiology, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 2 of them syntheses that pooled it.
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Who cites it
38 citing papers in PubMed, 2 syntheses or guidelines pooled it, 114 citations in OpenAlex.
- Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review.Forensic science, medicine, and pathology · 2015Pooled it
- Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).Journal of inherited metabolic disease · 2007Guideline
- Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients.JIMD reports · 2022Article
- Enlargement of the Optic Chiasm: A Novel Imaging Finding in Glutaric Aciduria Type 1.AJNR. American journal of neuroradiology · 2021Article
- Abusive head trauma: neuroimaging mimics and diagnostic complexities.Pediatric radiology · 2021Review
- Increasing the spectrum of white matter diseases with tigroid pattern on MRI: glutaric aciduria type 1 - case report.BMC pediatrics · 2021Article
- Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma.JIMD reports · 2021Article
- Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China.Frontiers in genetics · 2021Article
- Favourable outcome in a child with symptomatic diagnosis of Glutaric aciduria type 1 despite vertical HIV infection and minor head trauma.Metabolic brain disease · 2018Article
- Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood.JIMD reports · 2018Article
- Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene.Metabolic brain disease · 2017Article
- Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.Journal of inherited metabolic disease · 2017Review
- Glutaric AciduriaType 1: Clinical and Molecular Study in Iranian Patients, 3 Novel Mutations.Iranian journal of child neurology · 2017Article
- Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients.European journal of pediatrics · 2016Article
- Glutaric aciduria type 1: neuroimaging features with clinical correlation.Pediatric radiology · 2015Article
- Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodules.Neurogenetics · 2015Article
- Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation.JIMD reports · 2015Article
- Imaging abusive head trauma: why use both computed tomography and magnetic resonance imaging?Pediatric radiology · 2014Review
- Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients.Journal of inherited metabolic disease · 2014Article
- Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1.The neuroradiology journal · 2013Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo 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
methodsFor 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.
resultsWidening 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.
conclusionsWidening 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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