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Iniencephaly with mediastinal bronchogenic cyst: A case report
Yeşim Akdemir1, Habibe Ayvacı, Oya Demirci
1Zeynep Kamil Gynecologic and Pediatric Training and Research Hospital, Department of Obstetrics and Gynecology, Istanbul, Turkey, 346682.
Journal of Prenatal Medicine
|March 23, 2012
Summary
This study reports the first prenatal diagnosis of iniencephaly, a rare and often lethal neural tube defect, co-occurring with a large bronchogenic cyst. Early diagnosis is crucial for management.
Area of Science:
- Medical Genetics
- Developmental Biology
- Prenatal Diagnosis
Background:
- Iniencephaly is a severe congenital anomaly characterized by occipital bone defects, vertebral malformations, and extreme retroflexion of the head.
- It is a rare neural tube defect with a high mortality rate, often diagnosed in the prenatal period.
Observation:
- A case of iniencephaly was diagnosed prenatally at 19 weeks gestation.
- The fetus exhibited occipital bone defect, anencephaly, retroflexion of the head, a short cervicothoracic spine, and a posterior mediastinal cyst.
Findings:
- This is the first reported case of iniencephaly associated with a large bronchogenic cyst diagnosed prenatally.
- Fetal cardiac activity, placenta, and amniotic fluid were normal despite the severe malformations.
Implications:
- Early and accurate prenatal diagnosis of iniencephaly is critical for appropriate management and counseling.
- A multidisciplinary approach is recommended for cases diagnosed early in pregnancy to address complex fetal anomalies.
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