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Neuroradiologie Scan 2015; 05(02): 151-167
DOI: 10.1055/s-0034-1391932
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© Georg Thieme Verlag KG Stuttgart · New York

Schwerste Störungen des Hirnstoffwechsels bei Neugeborenen und Säuglingen[1]

Devastating metabolic brain disorders of newborns and young infants
Hyun Jung Yoon
,
Ji Hye Kim
,
Tae Yeon Jeon
,
So-Young Yoo
,
Hong Eo
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Publication History

Publication Date:
01 April 2015 (online)

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Zusammenfassung

Störungen des Hirnstoffwechsels, die sich im Neugeborenen- oder Säuglingsalter manifestieren, gehen in der Regel mit einer akuten und schweren Krankheit einher und werden deshalb als „schwerste Stoffwechselstörungen“ bezeichnet. Die meisten derartigen Störungen lassen sich als Organoazidopathien, Aminoazidopathien, primäre Laktatazidosen oder Fettsäurenoxidationsstörungen einordnen. Jede Störung ist durch bestimmte klinische, biochemische und radiologische Merkmale gekennzeichnet. Eine frühe Diagnose ist wichtig, um eine sofortige Behandlung einleiten und Tod oder schwerwiegende Folgen abwenden zu können, ist aber auch die Voraussetzung für eine kompetente genetische Beratung. Jedoch stellt die Diagnose oft eine Herausforderung dar, denn viele Befunde überschneiden sich, und in vielen Fällen ähnelt der Zustand der Patienten dem bei geläufigeren Krankheiten des Neugeborenenalters, z. B. dem bei hypoxisch-ischämischer Enzephalopathie oder bei Infektionen. Zum initialen Screening eignet sich die Sonografie des Gehirns von Neugeborenen, während die Magnetresonanztomografie die Modalität der Wahl zur gezielteren Beurteilung von Störungen des Hirnstoffwechsels darstellt. Zwar sind die Bildgebungsbefunde bei Stoffwechselstörungen mit frühem Beginn häufig unspezifisch, doch sind für verschiedene Krankheitsbilder charakteristische Muster der Hirnbeteiligung beschrieben. Zur Charakterisierung des Ödems können zudem diffusionsgewichtete Aufnahmen herangezogen werden, die während der akuten Episode einer Enzephalopathie angefertigt wurden, und mithilfe der Magnetresonanzspektroskopie lassen sich Veränderungen des Musters der Metabolite erkennen, die die Diagnose von Stoffwechselstörungen und die Beurteilung des Ansprechens auf die Behandlung erleichtern. Die Bildgebungsbefunde müssen genau geprüft werden. Das gilt auch für die Ergebnisse, die mithilfe modernster magnetresonanztomografischer Techniken generiert wurden. Bei Verdacht auf eine dieser seltenen Krankheiten sollte zur Sicherung der Diagnose der einschlägige biochemische Test bzw. die entsprechende spezifische Genanalyse durchgeführt werden.

Abstract

Metabolic disorders of the brain that manifest in the neonatal or early infantile period are usually associated with acute and severe illness and are thus referred to as devastating metabolic disorders. Most of these disorders may be classified as organic acid disorders, amino acid metabolism disorders, primary lactic acidosis, or fatty acid oxidation disorders. Each disorder has distinctive clinical, biochemical, and radiologic features. Early diagnosis is important both for prompt treatment to prevent death or serious sequelae and for genetic counseling. However, diagnosis is often challenging because many findings overlap and may mimic those of more common neonatal conditions, such as hypoxic-ischemic encephalopathy and infection. Ultrasonography (US) may be an initial screening method for the neonatal brain, and magnetic resonance (MR) imaging is the modality of choice for evaluating metabolic brain disorders. Although nonspecific imaging findings are common in early-onset metabolic disorders, characteristic patterns of brain involvement have been described for several disorders. In addition, diffusionweighted images may be used to characterize edema during an acute episode of encephalopathy, and MR spectroscopy depicts changes in metabolites that may help diagnose metabolic disorders and assess response to treatment. Imaging findings, including those of advanced MR imaging techniques, must be closely reviewed. If one of these rare disorders is suspected, the appropriate biochemical test or analysis of the specific gene should be performed to confirm the diagnosis.

1 © 2014 The Radiological Society of North America. All rights reserved. Originally puplished in English in RadioGraphics 2014; 34: 1257 – 1272. Online published in 10.1148 /rg.345130095. Translated and reprinted with permission of RSNA. RSNA is not responsible for any inaccuracy or error arising from the translation from English to German.


 

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