Neonatal neuroimaging findings in inborn errors of metabolism.

Journal of Magnetic Resonance Imaging : JMRI
Andrea PorettiThierry A G M Huisman

Abstract

Individually, metabolic disorders are rare, but overall they account for a significant number of neonatal disorders affecting the central nervous system. The neonatal clinical manifestations of inborn errors of metabolism (IEMs) are characterized by nonspecific systemic symptoms that may mimic more common acute neonatal disorders like sepsis, severe heart insufficiency, or neonatal hypoxic-ischemic encephalopathy. Certain IEMs presenting in the neonatal period may also be complicated by sepsis and cardiomyopathy. Early diagnosis is mandatory to prevent death and permanent long-term neurological impairments. Although neuroimaging findings are rarely specific, they play a key role in suggesting the correct diagnosis, limiting the differential diagnosis, and may consequently allow early initiation of targeted metabolic and genetic laboratory investigations and treatment. Neuroimaging may be especially helpful to distinguish metabolic disorders from other more common causes of neonatal encephalopathy, as a newborn may present with an IEM prior to the availability of the newborn screening results. It is therefore important that neonatologists, pediatric neurologists, and pediatric neuroradiologists are familiar with the neuroimaging...Continue Reading

References

Jan 1, 1991·Neuroradiology·M S van der Knaap, J Valk
Jan 1, 1986·Neurology·T Z BaramA K Percy
Dec 1, 1984·Archives of Neurology·P DaveL Steinman
Aug 1, 1981·Archives of Disease in Childhood·J T ClarkeV W Krause
Aug 1, 1997·European Journal of Pediatrics·P Schadewaldt, U Wendel
Jul 23, 1998·Neurology·S M Gospe, S T Hecht
May 12, 2000·Journal of Medical Genetics·R I Kelley, R C Hennekam
Apr 26, 2001·Archives of Disease in Childhood. Fetal and Neonatal Edition·A ChakrapaniJ E Wraith
Aug 25, 2001·Neuropediatrics·D HaasG F Hoffmann
Jun 4, 2002·Pediatrics·D Holmes MortonRichard I Kelley
Jun 19, 2002·Seminars in Neonatology : SN·J V Leonard, A A M Morris
Jun 19, 2002·Seminars in Neonatology : SN·Matthias R Baumgartner, Jean Marie Saudubray
Aug 1, 2002·Pediatric Research·Angèle ViolaPatrick J Cozzone
Nov 7, 2002·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·C GireJ M Dejode
Jan 25, 2003·Journal of Computer Assisted Tomography·Kim M CecilJoseph F Clark
Jul 2, 2003·European Radiology·Alessandro BozzaoRoberto Floris
Nov 8, 2003·Neuroradiology·P A CarusoM B Irons
Jan 13, 2004·Journal of Computer Assisted Tomography·Hemant ParmarLing Ho
May 7, 2004·The European Journal of Neuroscience·Akiko IchinoheKohji Sato
Jul 27, 2004·Journal of Inherited Metabolic Disease·D A Applegarth, J R Toone
Nov 24, 2004·Neurology·J E Hoover-FongA Hamosh
May 4, 2005·Journal of Inherited Metabolic Disease·R C M Hennekam
May 20, 2005·The New England Journal of Medicine·Maria L EscolarJoanne Kurtzberg
Jun 3, 2005·The Journal of Nutrition·Robert A HarrisMariko Obayashi

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Citations

Sep 11, 2014·Radiographics : a Review Publication of the Radiological Society of North America, Inc·Hyun Jung YoonHong Eo
Aug 10, 2013·Neuroimaging Clinics of North America·Andrea Rossi, Roberta Biancheri
Dec 15, 2015·Molecular Genetics and Metabolism·Paldeep S Atwal, Fernando Scaglia
Nov 14, 2015·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·S HopeP Strømme
Sep 9, 2015·Pediatric Radiology·Zoltan PatayThierry A G M Huisman
Jun 23, 2016·Indian Journal of Anaesthesia·Kalpana Vinod Kelkar, Vaijayanti Nitin Gadre
Jul 18, 2016·Neuroimaging Clinics of North America·Susan I BlaserGrace Yoon
Dec 22, 2016·Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging·Matthias W WagnerThierry A G M Huisman
Jan 13, 2018·Clinical Genetics·M AlmannaiF S Alkuraya
May 15, 2018·Radiographics : a Review Publication of the Radiological Society of North America, Inc·Nihaal ReddyBruno P Soares
Aug 8, 2018·Topics in Magnetic Resonance Imaging : TMRI·Felice D'ArcoAjay Taranath
Aug 8, 2018·Topics in Magnetic Resonance Imaging : TMRI·Kshitij MankadAta Siddiqui
Aug 8, 2018·Topics in Magnetic Resonance Imaging : TMRI·César Augusto Pinheiro Ferreira AlvesGiulio Zuccoli
Mar 18, 2017·Journal of the Chinese Medical Association : JCMA·Fang-Chih TsaiDau-Ming Niu
Dec 2, 2020·Orphanet Journal of Rare Diseases·Yen-Chi ChenYen-Fu Cheng
Apr 28, 2021·Magnetic Resonance Imaging Clinics of North America·Jeffrey J Neil, Christopher D Smyser
Jun 8, 2021·Indian Journal of Pediatrics·Umamaheswari Balakrishnan
Aug 28, 2021·The Neurodiagnostic Journal·Rajesh P PoothrikovilAmna Al Futaisi
Aug 24, 2021·Magnetic Resonance in Medical Sciences : MRMS : an Official Journal of Japan Society of Magnetic Resonance in Medicine·Noriko Aida

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