Early neuroimaging findings of infants diagnosed with inherited metabolic disorders in neonatal period: A case-control study

Abstract

ObjectiveMost IMDs are diagnosed in the neonatal period and have severe neurological findings. Neuroimaging plays an essential role in the diagnosis. We aim to investigate early cranial MRI findings of newborns suspected with IMDs to determine IMD-related neuroimaging patterns in the early infant period. MethodsThe medical records of a total of 195 infants with suspected IMDs were screened, and 56 patients who underwent a cranial MRI within the first three months of life were included in the study. The 56 patients were categorized into those diagnosed (Group I) and those not diagnosed (Group II) with IMDs. The patient's clinical findings and radiological imaging reports were extracted to a database. ResultsThe most common IMDs were mitochondrial diseases, urea cycle disorders, and organic acidemias. In the cranial MRI evaluations, the T2-hyperintensity of white matter and the T2-hyperintensity of basal ganglia were higher in Group I. It was found that high lactate/lipid peaks on 1H-MRS (10.68 times), T2-hyperintensity of white matter (5.75 times), and T2-hyperintensity of the basal ganglia (5.71 times) were more likely to be identified in Group I. Furthermore, no difference was noted between the groups in terms of the diffusion restriction of white matter, basal ganglia, cerebellum, and brainstem, and no statistically significant difference was noted in the T2-hyperintensity of the cerebellum and the brainstem. ConclusionEarly neuroimaging findings are essential in evaluations of IMDs, so familiarity with neuroimaging findings is essential for diagnosis, especially in countries that lack an expanded neonatal screening program.