In the clinical management of inborn errors of metabolism (IEMs) a central focus is
on protecting the central nervous system (CNS) from the toxic effects of the metabolic
dysfunction. Despite our ability to screen for and detect many of these conditions
in the newborn period, making early treatment possible, cognitive abnormalities may
still result because of our inability to identify and alter the early steps in brain
pathology. A key in preventing neurological imaging is the understanding the steps
in the brain injury and the time course of injury in order that physicians may intervene.
Since the infant who is comatose does not give us clues as to whether it is due to
infection, inborn errors of metabolism and which one, seizures or other causes based
on examination alone. Therefore, neuroimaging may provide biomarkers for diagnosis
and prognosis. This review will discuss use of neuroimaging in inborn errors of metabolism
of acutely ill infants.
Keywords
Central nervous system (CNS) - inborn errors of metabolism (IEMs) - magnetic resonance
imaging (MRI)
