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

• Published in: Clinical neurology and neurosurgery Vol. 222; p. 107474
• Main Authors: Koç Yekedüz, Merve, Şen Akova, Birsel, Köse, Engin, Doğulu, Neslihan, Öncül, Ümmühan, Okulu, Emel, Arsan, Saadet, Fitöz, Suat, Eminoğlu, Fatma Tuba
• Format: Journal Article
• Language: English
• Published: Assen Elsevier B.V 01-11-2022; Elsevier Limited
• Subjects: Basal ganglia; Brain stem; Cerebellum; Coma; Cranial magnetic resonance imaging; Diagnosis; Familiarity; Hematoma; Hypoxia; Infants; Inherited metabolic disorders; Ischemia; Laboratories; Lactic acid; Lipids; Magnetic resonance imaging; Medical imaging; Medical records; Metabolic disorders; Mitochondria; Neonates; Neuroimaging; Newborn; Patients; Pediatrics; Sepsis; Skull; Spectrum analysis; Statistical analysis; Substantia alba; Neuroimaging; Cranial magnetic resonance imaging; Inherited metabolic disorders; Newborn
• ISSN: 0303-8467; 1872-6968
• DOI: 10.1016/j.clineuro.2022.107474

Most 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.
The 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.
The 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.
Early 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.
•Most inherited metabolic disorders (IMDs) are diagnosed in the neonatal period and have severe neurological findings.•Neuroimaging plays an essential role in the diagnostic work-up of patients with suspected IMDs.•The anatomical imaging provided by magnetic resonance imaging (MRI) is considered the most sensitive and specific neuroimaging method for IMDs in the neonatal period.•High lactate/lipid peaks on 1H-MRS, T2-hyperintensity of white matter, and T2-hyperintensity of the basal ganglia were more likely to be identified in patients with IMDs.•Early 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.