“Cerebral Palsy” in a Patient with Arginase Deficiency

Inborn errors of metabolism (IEMs) are thought to present in infancy with acute decompensation including feeding intolerance and vomiting, lethargy, and coma. Most practitioners assume children will be diagnosed in their first months of life. However, certain IEMs present more insidiously and occasionally children fail to receive newborn screening resulting in delayed diagnoses as metabolic and genetic disorders are overlooked causes of cognitive and neurologic deficits. While signs and symptoms may be present but subtle, careful and detailed history taking, particularly of a child ′s diet and neurologic medical history, in addition to certain physical exam findings may suggest a diagnosis that is later supported by laboratory and radiographic testing.
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research