title: Structural brain defects.
abstract: Up to 14% of patients with congenital metabolic disease may show structural brain abnormalities from perturbation of cell proliferation, migration, and/or organization. Most inborn errors of metabolism have a postnatal onset. Abnormalities from genetic disease processes have a prenatal onset. Energy impairment, substrate insufficiency, cell membrane receptor and cell signaling abnormalities, and toxic byproduct accumulation are associations between genetic disorders and structural brain anomalies. Collective imaging patterns of brain abnormalities can provide clues to the underlying etiology. We review selected metabolic diseases associated with brain malformations and highlight characteristic clinical and imaging manifestations that help narrow the differential diagnosis.
authors.affiliation: Department of Radiology, Children's National Medical Center, 111 Michigan Avenue Northwest, Washington, DC 20010, USA. Electronic address: MWhitehe@childrensnational.org.
authors.forename: Matthew T
authors.initials: MT
authors.lastname: Whitehead
authors.affiliation: Department of Radiology, Children's National Medical Center, 111 Michigan Avenue Northwest, Washington, DC 20010, USA.
authors.forename: Stanley T
authors.initials: ST
authors.lastname: Fricke
authors.affiliation: Department of Neurology, Children's National Medical Center, 111 Michigan Avenue Northwest, Washington, DC 20010, USA.
authors.forename: Andrea L
authors.initials: AL
authors.lastname: Gropman
mesh_terms: D001927:Brain Diseases / Q000151:congenital / Q000175:diagnosis / Q000235:genetics; D003952:Diagnostic Imaging; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007231:Infant, Newborn
keywords: Brain; Genetic; MRI; Malformations; Metabolic; Spectroscopy; Structural