Neurometabolic diseases of childhood.
Metabolic diseases affecting the pediatric brain are complex conditions, the underlying mechanisms leading to structural damage are diverse and the diagnostic imaging manifestations are often non-specific; hence early, sensitive and specific diagnosis can be challenging for the radiologist. However, misdiagnosis or a delayed diagnosis can result in a devastating, irreversible injury to the developing brain. Based upon the inborn error, neurometabolic diseases can be subdivided in various groups depending on the predominantly involved tissue (e.g., white matter in leukodystrophies or leukoencephalopathies), the involved metabolic processes (e.g., organic acidurias and aminoacidopathies) and primary age of the child at presentation (e.g., neurometabolic disorders of the newborn). This manuscript summarizes these topics.
Section of Neuroradiology, Division of Radiology, Department of Radiological Sciences, St. Jude Children's Research Hospital, Memphis, TN, USA.
Zoltan
Z
Patay
Susan I
SI
Blaser
Andrea
A
Poretti
Thierry A G M
TA
Huisman
D015415:Biomarkers / Q000378:metabolism; D001927:Brain Diseases / Q000175:diagnosis* / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging / Q000379:methods*; D009682:Magnetic Resonance Spectroscopy / Q000379:methods*; D008297:Male; D008659:Metabolic Diseases / Q000175:diagnosis* / Q000378:metabolism*; D057054:Molecular Imaging / Q000379:methods
D015415:Biomarkers