Pentalogy of Cantrell associated with exencephaly and spinal dysraphism: antenatal ultrasonographic diagnosis. Case report

Abstract

The pentalogy of Cantrell, a rare syndrome, consists of the defects in the anterior diaphragm, diaphragmatic pericardium, lower sternum and supraumbilical abdominal wall, along with congenital cardiac abnormalities. Till date, only few patients with full spectrum of this syndrome have been reported with only 2 cases showing associated exencephaly and spinal dysraphism. We report extremely rare association of complete pentalogy of Cantrell syndrome with exencephaly and spinal dysraphism on antenatal sonogram and autopsy in a 18 weeks fetus of a 19 year-old primi gravida female.

Complete pentalogy of Cantrell associated with exencephaly: a rare case report

“…2 Complete pentalogy of Cantrell, in addition to exencephaly and spinal dysraphism is even more rarely reported. 3,4 In our case only exencephaly was associated with complete PC.…”

Cantrell Pentalojisi

“…Embriyonik yaşamın 3. haftasından itibaren mezoderm migrasyonunun sefalik ve kaudal kısmında yetersizliği omfaloselin patogenezindeki temel mekanizmadır. Füzyon yetersizliği sefalik kısımda olursa dudak ve damak yarıkları, sternum defektleri ve omfalosel gelişir [11]. Abdomendeki defektlerin gelişmesi ise farklı bir mekanizma sonucunda mezodermin ventral migrasyonu yetersizliği nedeniyle oluşur.…”

“…Ensefalosel, meningomiyelosel, anensefali, spina bifida ve kraniyorafliflizis gibi nöral tüp defektleri Cantrell pentalojisi ile birlikte görülebilmektedir [5,6]. Konsepsiyonun [11]. Abdomendeki defektlerin gelişmesi ise farklı bir mekanizma sonucunda mezodermin ventral migrasyonu yetersizliği nedeniyle oluşur.…”

Multidetector Computed Tomographic Angiography Imaging of Pentalogy of Cantrell

“…2 However, because of lack of awareness, our patient had never undergone an antenatal sonogram. The precise anatomic identification of the components of the pentalogy of Cantrell can be difficult because of the spatial complexity of the anomaly, evaluation of which is…”

“…The possible underlying pathogenesis is developmental failure of the lateral mesoderm segment during 14 to 18 days of gestational age. 2 The expression of the pentalogy of Cantrell varies in severity from complete to incomplete syndrome; however, anterior sternal defect is always present.…”