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Balkenfehlbildungen

Agenesis of the corpus callosum

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Zusammenfassung

Klinisches Problem

Die Inzidenz der Balkenagenesie liegt etwa bei 1:4000 Geburten. Die Ursachen sind häufig genetisch bedingt (ca. 30–45 % der Fälle): Etwa10 % der Patienten zeigen chromosomale Anomalien, 20–35 % der Patienten weisen genetische Syndrome auf. Aber auch Umweltfaktoren können die Agenesie des Corpus callosum beeinflussen; hierfür bekannt ist z. B. das fetale Alkoholsyndrom. Die Balkenagenesie kann in partiell und vollständig unterteilt werden, tritt sowohl isoliert als auch häufig assoziiert mit weiteren Fehlbildungen des Zentralnervensystems (ZNS) auf (z. B. kortikal, Balkenlipome oder Zysten) oder extrakraniellen Fehlbildungen (z. B. Augen, Gesichtsschädel, kardiovaskulär).

Radiologische Standardverfahren und methodische Innovationen

Die Diagnostik der Balkenfehlbildung erfolgt bildgebend mittels Ultraschall, Computertomographie (CT) oder am besten mittels Magnetresonanztomographie (MRT). Typische Bildbefunde bei der Balkenagenesie sind u. a. Kolpozephalie, hoch sitzender erweiterter 3. Ventrikel, Stierhornkonfiguration der Frontalhörner, Probst-Bündel. Fiber-Tracking und Diffusions-Tensor-Imaging sind diffusionsbasierte, innovative MRT-Verfahren, die Faser- und Bahnabnormalitäten bei Balkenfehlbildungen zusätzlich zur Standarddiagnostik direkt visualisieren können.

Bewertung

Die klinische Korrelation der radiologischen Befunde ist schwierig aufgrund der häufig existenten weiteren ZNS-Fehlbildungen und genetischen Syndrome. Differenzialdiagnosen primärer Balkenfehlbildungen sind v. a. sekundäre Balkenschädigungen, wie z. B. vaskuläre, entzündliche oder posttherapeutische Veränderungen.

Abstract

Clinical issue

Agenesis of the corpus callosum is reported to have an incidence of about 1:4000 live births. In 30–45% of cases, genetic etiologies can be identified, e. g., 10% chromosomal anomalies and 20–35% genetic syndromes. Environmental factors like fetal alcohol syndrome are also known to be prone to callosal agenesis. Callosal agenesis can be complete or partial and can be isolated or associated with other central nervous system (CNS) anomalies (e. g., cortical developmental disorders, callosal lipoma, intracranial cysts) or extra-CNS anomalies (e. g., eyes, face, cardiovascular).

Standard radiological methods and methodical innovations

Diagnosis is made using ultrasound, computed tomography (CT) or best with magnetic resonance imaging (MRI). Typical imaging findings in callosal agenesis are colpocephaly, high riding enlarged third ventricle, Texas Longhorn configuration of frontal horns and so-called Probst bundles parasagittal. Diffusion tensor imaging and fiber-tracking, based on diffusion-weighted techniques, can also visualize fiber/tract anomalies in the patients’ brains.

Assessment

Clinical correlations of callosal agenesis is difficult in general because of the common association of other CNS malformations. Differential diagnosis of primary complete or partial callosal agenesis are secondary callosal changes, e. g. vascular, inflammatory or posttreatment in origin.

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Authors and Affiliations

  1. Klinik für Radiologie und Nuklearmedizin, Abteilung für diagnostische und interventionelle Neuroradiologie, Universitätspital Basel, Petersgraben 4, 4031, Basel, Schweiz

    J. M. Lieb

  2. Imamed Radiologie Nordwest, Basel, Schweiz

    J. M. Lieb

  3. Abteilung für Neuroradiologie, Kantonspital Baden AG, Baden, Schweiz

    F. J. Ahlhelm

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Correspondence to J. M. Lieb.

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J. M. Lieb und F. J. Ahlhelm geben an, dass kein Interessenkonflikt besteht.

Dieser Beitrag beinhaltet keine von den Autoren durchgeführten Studien an Menschen oder Tieren.

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Lieb, J.M., Ahlhelm, F.J. Balkenfehlbildungen. Radiologe 58, 636–645 (2018). https://doi.org/10.1007/s00117-018-0388-2

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