ABSTRACT
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.
Subject(s)
Brain Diseases, Metabolic/diagnostic imaging , Magnetic Resonance Imaging/methods , Metabolism, Inborn Errors/diagnostic imaging , Neuroimaging/methods , Child, Preschool , Female , Humans , Infant , Male , Retrospective StudiesABSTRACT
Ossifying renal tumor of infancy ORTI is a benign neoplasm, which presents with gross hematuria and less frequently as an abdominal mass, histologically it comprises a large cell with an epithelial nature and osteoid formation. We report a case of a 10-month-old girl who developed ORTI as non-opacified upper calyces of left kidney on excretory urography. We outlined the calcific and tumors nature of the lesion by ultrasound and computed tomography. The macroscopic and histological features were pathognomonic.
