Lubusky Marek, Prochazka Martin, Dhaifalah Ishraq, Horak David, Geierova Marie, Santavy Jiri
Department of Obstetrics and Gynecology, University Hospital, Olomouc, Czech Republic.
Prenat Diagn. 2006 Apr;26(4):345-9. doi: 10.1002/pd.1415.
Enterolithiasis (multiple calcifications of intraluminal meconium) is a rare, prenatal ultrasonographic finding. In this study, our aim was to evaluate the prenatal diagnostic features and discuss the management of the patients.
The data of two cases of prenatally diagnosed fetal enterolithiasis were collected from ultrasound scan, magnetic resonance imaging (MRI) and neonatal or postnatal autopsy records. The findings were evaluated in both prenatal and postnatal periods. Chromosomal analysis was performed in one case. An evaluation of primary and secondary malformations was done. Coexisting anomalies were searched for via radiology, neonatal surgery and histopathology.
Malformations in two cases (both males) with partial and complete urorectal septum malformation (URSM) sequence were described. The absence of an anal opening and presence of a fistula between the urinary and gastrointestinal tract were common findings. These features were considered as primary malformations contributing to the formation of enterolithiasis. Secondary anomalies (urinary and gastrointestinal system malformations, pulmonary hypoplasia, genital and other coexisting anomalies) were evaluated.
The prenatal detection of enterolithiasis carries a poor prognosis. Most of the previously reported cases were invariably associated with major fetal malformations of the urinary and gastrointestinal tract. It is a warning sign for large bowel obstruction with or without enterourinary fistula. Therefore, adequate gastrointestinal and urologic studies must be undertaken after birth for the final diagnosis. There is a high mortality rate in the reported cases, mostly attributed to associated anomalies, and all survivors required neonatal surgery. It is important to differentiate the partial from the full URSM sequence because the prognosis in the partial URSM sequence is generally good, with long-term survival being common.
胎粪性肠梗阻（肠腔内胎粪多处钙化）是一种罕见的产前超声检查发现。在本研究中，我们的目的是评估产前诊断特征并讨论患者的管理。
从超声扫描、磁共振成像（MRI）以及新生儿或产后尸检记录中收集两例产前诊断为胎儿胎粪性肠梗阻的病例数据。在产前和产后阶段对这些发现进行评估。对其中一例进行了染色体分析。对原发性和继发性畸形进行了评估。通过放射学、新生儿外科和组织病理学检查寻找并存的异常情况。
描述了两例（均为男性）伴有部分和完全性尿直肠隔畸形（URSM）序列的畸形情况。肛门开口缺失以及泌尿生殖道与胃肠道之间存在瘘管是常见表现。这些特征被认为是导致胎粪性肠梗阻形成的原发性畸形。对继发性异常（泌尿和胃肠道系统畸形、肺发育不全、生殖器及其他并存异常）进行了评估。
产前检测到胎粪性肠梗阻预后不良。先前报道的大多数病例总是与泌尿和胃肠道的主要胎儿畸形相关。它是伴有或不伴有肠泌尿瘘的大肠梗阻的警示信号。因此，出生后必须进行充分的胃肠道和泌尿系统检查以明确最终诊断。报道病例的死亡率很高，主要归因于相关异常，所有幸存者均需要新生儿手术。区分部分性与完全性URSM序列很重要，因为部分性URSM序列的预后通常良好，长期存活很常见。
