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Neurometabolic Disorders of the Newborn

Mankad, Kshitij, MRCP, FRCR*; Talenti, Giacomo, MD; Tan, Ai Peng, MD; Gonçalves, Fabrício Guimarães, MD, EDiNR, EDiPNR§; Robles, Carlos, MD||; Kan, Elaine Y. L., FRCR, FHKAM, FHKCR; Siddiqui, Ata, MD, DNB, FRCR#

Topics in Magnetic Resonance Imaging: August 2018 - Volume 27 - Issue 4 - p 179–196
doi: 10.1097/RMR.0000000000000176
Review Articles

There is an extensive and diverse set of medical conditions affecting the neonatal brain within the spectrum of neurometabolic disorders. As such, their clinical presentations can be rather nonspecific, and can often mimic acquired entities such as hypoxic-ischemic encephalopathy and sepsis. Similarly, the radiological findings in these entities can also be frequently nonspecific, but a more detailed analysis of imaging findings (especially magnetic resonance imaging) alongside the relevant clinical details can be a rewarding experience, thus enabling a timely and targeted diagnosis. Early diagnosis of an underlying neurometabolic disorder is vital, as some of these entities are potentially treatable, and laboratory and genetic testing can be precisely targeted. Further, their detection helps with counselling families for future pregnancies. We present a review of neurometabolic disorders specific to the newborns with a focus on how neuroimaging findings match their clinical presentation patterns.

*Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK

Neuroradiology Unit, Padua University, Padua, Italy

Department of Diagnostic Imaging, National University Health System, Singapore, Singapore

§Neuroradiology Department, Children's Hospital of Brasilia, Brasilia, Brazil

||Department of Radiology, Hospital Clinico Universidad de Chile, Región Metropolitana, Chile

Department of Radiology, Hong Kong Children's Hospital, Kai Tak, Hong Kong

#Department of Neuroradiology, King's College Hospital, London, UK.

Address correspondence to Kshitij Mankad, MRCP, FRCR, Department of Neuroradiology, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK (E-mail:

The authors report no conflicts of interest.

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