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Wiederholtes Vorkommen der Lateralitätssequenz innerhalb einer Familie mit abweichender Expressivität

Two brothers with different phenotypic expression of the laterality sequence

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Zusammenfassung

Hintergrund.

Zur Lateralitätssequenz gehören außer dem partiellen oder kompletten Situs inversus auch die bilaterale Links- oder Rechtsseitigkeit, die sich anstelle der physiologischen Körperasymmetrie herausbilden kann. Diese Form wird auch Situs ambiguus genannt und geht bei bilateraler Linksseitigkeit mit Polysplenie und bei bilateraler Rechtsseitigkeit mit Asplenie oder hypoplastischer Milz einher. Letztere Form ist typischerweise durch schwere Entwicklungsstörungen des Herzens charakterisiert. Bei Verknüpfungen des Situs ambiguus mit Herzfehlbildungen wird vom Ivemark-Syndrom, synonym dem Polyaspleniesyndrom, gesprochen.

Kasuistik.

In unserer Arbeit beschreiben wir eine Familie, in der beide Formen der Lateralitätssequenz vorkommen. Beim älteren Bruder wurde ein Situs inversus totalis diagnostiziert, der jüngere Bruder litt an einem mit Polysplenie assoziierten Ivemark-Syndrom und verstarb im Alter von 11 Tagen. Die Kopplung dieser beiden Formen ist sehr selten.

Intrauterine Diagnostik.

Eine intrauterine Diagnostik mit molekulargenetischen Methoden ist bisher nicht möglich. Die fetale Echokardiographie in der 18.–20. Schwangerschaftswoche ist die bisher einzige diagnostische Möglichkeit zur frühzeitigen Erkennung.

Abstract

Background.

Laterality sequences are abnormalities in the development of normal body asymmetry. In addition to reversal of sides with partial or complete situs inversus, bilateral left-sidedness or right-sidedness can occur. In the case of bilateral left-sidedness called situs ambiguus it is usually associated with polysplenia. Bilateral right-sidedness mostly presents with asplenia. The asplenic form is characterized of complex severe cardiac anomalies. The Ivemark syndrome, or polyasplenia syndrome is the association of situs ambiguus and cardiac malformations.

Case report.

We describe two siblings with laterality sequences of different phenotypic expressivity. The elder brother has had a situs inversus totalis. His younger brother, who died at the age of eleven days was diagnosed with Ivemark-syndrome and polysplenia. The occurence of these two forms of laterality sequences in one family is rare.

Intrauterine diagnosis.

Intrauterine diagnosis based on molecular genetic methods is not yet available in this syndrome. The fetal echocardiography at 18.-20. weeks of gestation is an effective method of early prenatal detection.

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Author notes

  1. S. Funke

    Present address: PTE ÁOK Szülészeti Klinika NICU, Pécs, Édesanyák útja 17, 7624, Hungary

Authors and Affiliations

  1. Klinik für Gynäkologie und Frauenheilkunde, Medizinische Fakultät, Universität Pécs, Pécs, Ungarn

    S. Funke & A. Horváth

  2. Institut für Medizinische Genetik, Medizinische Fakultät, Universität Pécs, Pécs, Ungarn

    É. Morava & Gy. Kosztolányi

  3. Kinderklinik, Medizinische Fakultät, Universität Pécs, Pécs, Ungarn

    K. Adamovich

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Funke, S., Morava, É., Horváth, A. et al. Wiederholtes Vorkommen der Lateralitätssequenz innerhalb einer Familie mit abweichender Expressivität. Monatsschr Kinderheilkd 152, 173–177 (2004). https://doi.org/10.1007/s00112-002-0529-5

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