Mekin SEZİK, Mehmet Özgür AKKURT, Serenat Eriş YALÇIN, And YAVUZ

Birinci Trimesterde Tanı Konulan Body Stalk Anomalisi: Olgu Sunumu

Body stalk anomalisi nadir görülen konjenital bir anomali olup abdominalduvar defekti, ağır kifoskolyoz ve rudimenter umblikal kord varlığı ilekarakterizedir. Omfalosel ve gastroşizis gibi diğer abdominal duvardefektlerinden ayırıcı tanı önemlidir. İzole gastroşizis benign özellikgösterirken body stalk anomalisi normal karyotipe rağmen fatalseyretmektedir. Yirmi iki yaşında gravida 2, parite 1 olgunun yapılansonografik muayenesinde fetusta karaciğer ve bağırsakları içeren genişabdominal defekt, ağır kifoskolyoz ve sağ ayakta talipes ekinovarusmevcuttu. Body stalk anomalisi ön tanısı konuldu. Postmortem incelemelertanımız ile uyumlu idi. Sonuç olarak karın ön duvarı defekti tespit edildiğindebody stalk anomalisi akla gelmeli, sonogramda eşlik eden bulguların varlığıdikkatle araştırılmalı ve böylece aileye doğru prognoz bilgisi sağlanmalıdır.

Body Stalk Anomaly Diagnosed in the First Trimester: A Case Report

Body stalk anomaly is a rare congenital anomaly characterized by the presence of an abdominal wall defect, severe kyphoscoliosis and a rudimentary umbilical cord. Differential diagnosis is important from other abdominal wall defects such as omphalocele and gastroschisis. Isolated gastroschisis shows benign property while body stalk anomaly seems fatal despite normal karyotype. A 22-year-old gravida 2, para 1 cases’ ultrasound examination showed extensive abdominal defect including liver and intestines of the fetus, severe kyphoscoliosis and right foot talipes equinovarus. Preliminary diagnosis was body stalk anomaly. Postmortem examinations were consistent with the definition. Consequently, when the anterior abdominal wall defect was detected, body stalk anomaly should be remembered, the presence of accompanying symptoms on sonogram should be examined carefully and thus accurate prognosis information should be provided to the family.

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