Affiliations: Children's National Medical Center, the George
Washington University of the Health Sciences, Washington, DC, USA
Note: [] Corresponding author: Andrea L. Gropman, Department of
Neurology, Children's National Medical Center, 111 Michigan Avenue, N.W.
Washington, DC, 20010, USA. Tel.: +1 202 476 2120; Fax: +1 202 476 5226;
E-mail: [email protected]
Abstract: 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)
