Imaging of Inherited Metabolic and Endocrine Disorders

Abstract

"Inherited metabolic disorders represent a large group of disorders of which approximately 25% present in neonatal period with acute metabolic decompensation, rapid clinical deterioration, and often nonspecific imaging findings. Neonatal onset signifies the profound severity of the metabolic abnormality compared with cases with later presentation and necessitates rapid diagnosis and urgent therapeutic measures in an attempt to decrease the extent of brain injury and prevent grave neurologic sequela or death. Here, the authors discuss classification and clinical and imaging findings in a spectrum of metabolic and endocrine disorders with neonatal presentation."

Keywords: Devastating; Encephalopathy; Endocrine; Fetus; Leukoencephalopathy; Metabolic; Neurometabolic; Newborn.