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Congenital Inborn Errors of Metabolism: Clinical and Imaging Pearls
Samantha K Gerrie1, María Navallas1, Eman Marie1
1From the Department of Diagnostic and Interventional Radiology, The Hospital for Sick Children, 170 Elizabeth St, Toronto, ON, Canada M5G 1X8 (S.K.G., H.M.B.); Department of Medical Imaging, University of Toronto, Toronto, ON, Canada (S.K.G.); Department of Radiology, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain (M.N., E.I.C.); Department of Medical Imaging, McMaster University, Hamilton, ON, Canada (E.M.); and Department of Medical Genetics, BC Women's Hospital and Health Centre, Vancouver, BC, Canada (A.M.R.C.).
None:
Pediatric neurometabolic imaging is a complex field of pediatric neuroradiology. There are key clinical and imaging features that help the radiologist narrow the differential diagnosis. The first part of this review provides an overview of the current system used for classification of metabolic disorders, focusing on the clinical and imaging features that narrow the differential diagnosis. These features include classifications based on organelle dysfunction, laboratory markers, clinical presentation, and imaging patterns. In the second part of this review, nine pediatric neurometabolic disorders are described on the basis of their clinical and imaging features. These disorders are maple syrup urine disease, Alexander disease, X-linked adrenoleukodystrophy, metachromatic leukodystrophy, Pelizaeus-Merzbacher disease, mitochondrial encephalopathy with lactic acidosis and strokelike episodes, nonketotic hyperglycinemia, Zellweger spectrum disorder, and Leigh syndrome. ©RSNA, 2025 Supplemental material is available for this article.
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