Work-Up of the Patient with Acute Neurological or Psychiatric Manifestations

Abstract

Many inherited metabolic diseases lead to neurologic or psychiatric manifestations, often as the leading symptoms. A substantial number of patients present with acute encephalopathy to emergency departments where the emergency doctor/neurologist is confronted with coma, acute ataxia, extrapyramidal symptoms, stroke, and/or psychosis. Metabolic disorders must be included in the diagnostic work-up from the beginning. Acute metabolic cerebral edema must be especially quickly recognized and treated in order to prevent herniation and death. All too often, only a diagnosis of encephalitis is initially pursued. In addition to diagnostic constellations of metabolites in body fluids, important diagnostic clues, such as white matter abnormalities, cortical or cerebellar atrophy, and injury of the basal ganglia, can be derived from cranial magnetic resonance imaging (MRI).