Agenesie des Ductus venosus mit direkter Mündung der Umbilikalvene in die Vena cava inferior: Fallvorstellung mit Verlauf und Literaturübersicht

Zusammenfassung

Einleitung: Während Fehlbildungen der Umbilikalarterien häufig beobachtet werden, kommen Anomalien der Nabelvene seltener vor. Bei einer Betrachtung des fetalen Kreislaufes wird verständlich, dass jede Fehlentwicklung der für den Transport des in der Plazenta arterialisierten Blutes verantwortlichen Umbilikalvene eine Gefahr für die Sauerstoffversorgung des Fetus darstellen kann. Kasuistik: Wir berichten über ein Frühgeborenes mit einer pränatal diagnostizierten Fehlmündung der Umbilikalvene in die Vena cava inferior bei gleichzeitigem Fehlen des Ductus venosus. Der weitere Verlauf bis zum 5. Lebensjahr war durch eine durch Antiepileptika nicht einstellbare BNS-Epilepsie bei stark ausgedehnten porenzephalen Defekten, eine schwere infantile Zerebralparese mit Tetraspastik sowie schwerster psychomotorischer Retardierung und eine beidseitige zentrale Sehstörung gekennzeichnet. Schlussfolgerung: Aus unserer Falldarstellung wird klar, dass eine solche Fehlbildung im Umbilikalvenensystem schwerwiegende Folgen für den betroffenen Fetus haben kann. Dies sollte differenzialdiagnostisch bei postpartal auftretender ausgeprägter neurologischer Symptomatik in Betracht gezogen werden.

Abstract

Introduction: While malformations of the umbilical arteries are relatively common, there are fewer reports on congenital anomalies of the umbilical veins. Since the umbilical vein is responsible for the transport of blood oxygenised in the placenta, it is obvious that any malformation of the umbilical vein can result in disturbances to the oxygen supply of the fetus. Case Report: We report a case of a preterm baby showing an umbilical vein directly communicating with the inferior vena cava combined with an absence of the ductus venosus. This anomaly was diagnosed prenatally by ultrasound. The subsequent clinical course until five years of age was characterized by more severe salaam spasms as a result of the extensive porencephalic defect, an infantile cerebral palsy with a severe psychomotoric retardation, and a central visual disorder. Conclusion: Our case report shows that any malformation of the umbilical vein can result in serious complications for the affected fetus. This should be taken into consideration, especially in cases with serious neurological symptoms after birth.

Schlüsselwörter

Fehlbildung der Umbilikalvene - Agenesie des Ductus venosus - porenzephale Defekte - BNS-Epilepsie - infantile Zerebralparese - psychomotorische Retardierung - zentrale Sehstörung

Key words

Malformation of the umbilical vein - absence of ductus venosus - porencephalic defect - salaam spasms - infantile cerebral palsy - psychomotoric retardation - central visual disorder

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