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Inherited paediatric neurometabolic disorders, can brain magnetic resonance imaging predict?
Ali Al Orf1, Khawaja B Waheed, Elsayed M Ali
1Department of Radiology Department, King Fahad Military Medical Complex, Dhahran, Kingdom of Saudi Arabia.
Insights
Brain MRI effectively detects inherited neurometabolic disorders in children under five. Specific imaging findings aid in predicting these conditions, improving diagnostic accuracy.
Area of Science:
- Pediatric Radiology
- Neuroimaging
- Metabolic Disorders
Background:
- Inherited neurometabolic disorders present diagnostic challenges in pediatric neurology.
- Early and accurate diagnosis is crucial for timely intervention and management.
Purpose of the Study:
- To assess the diagnostic capability of brain magnetic resonance imaging (MRI) for detecting inherited neurometabolic disorders in young children.
- To identify key MRI findings indicative of these conditions.
Main Methods:
- Retrospective observational study of 133 children under five with suspected neuro-developmental delay or metabolic disease.
- Evaluation of brain MRIs based on specific criteria: white matter abnormalities, diffusion restriction, atrophy/edema, and MR spectroscopy.
- Exclusion of perinatal ischemia and birth trauma cases. Diagnoses confirmed by biochemical/metabolic and genetic testing.
Main Results:
- Neurometabolic disorders were identified in 72 out of 133 cases (54%).
- Brain MRI demonstrated a sensitivity of 81.94% and specificity of 67.21%.
- Positive predictive value was 74.68% and negative predictive value was 75.93%, with statistically significant findings (p=0.0001).
Conclusions:
- Brain MRI is a valuable tool for predicting inherited neurometabolic disorders in children.
- Specific imaging patterns on MRI can significantly aid in the early identification of these conditions.
Objective:
To evaluate diagnostic capability of brain magnetic resonance imaging (MRI) in detection of inherited neurometabolic disorders.
Methods:
This retrospective observational study was performed in Radiology Department at our Hospital in Dhahran, from January 2013 to January 2020. We evaluated brain MRIs of children (under 5) who were referred to pediatric neurology for clinical suspicion of neuro-developmental delay and metabolic disease. Known perinatal ischemia and birth trauma cases were excluded. Imaging criteria included: (i) bilateral symmetric white matter signal abnormality, (ii) diffusion restriction affecting bilateral deep grey nuclei with or without brainstem involvement, (iii) brain atrophy or edema with abnormal white matter signal, (iv) characteristic MR spectroscopic finding. Presence of any one of these findings was considered positive for neurometabolic disease. Two neuroradiologists interpreted MRIs with substantial interobserver agreement. Diagnoses were confirmed on biochemical/ metabolic screening and genetic testing. A 2 x 2 contingency table was used for results. Chi square test was used to determine association.
Results:
Out of 133 cases, 72 (49 males, 90% AR) were found to have neurometabolic disorders. Sensitivity, specificity, positive and negative predictive values were calculated as 81.94% (CI, 71.11-90.02), 67.21% (CI, 54.00-78.69), 74.68% (CI, 66.96-81.11) and 75.93% (CI, 65.16-84.17) respectively. Findings were found significant (p-value=0.0001).
Conclusion:
Brain MRI can help to predict inherited neurometabolic disorders considering certain findings.
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