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Iniencephaly: radiologic and pathomorphologic perinatal observation.
Alexandra Korostyshevskaya1, Alyona Gornostaeva1,2, Rem Volkov3
1Institute "International Tomography Center" of the Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russian Federation.
Radiology Case Reports
|December 9, 2020
Summary
Iniencephaly (IE) is a rare neural tube defect causing severe head retroflexion and spinal deformities. This case highlights complex associated anomalies and the role of advanced imaging in diagnosis and management.
Area of Science:
- Medical Imaging
- Radiology
- Fetal Medicine
Background:
- Iniencephaly (IE) is a rare, severe neural tube malformation characterized by extreme retroflexion of the fetal head and spinal deformities.
- It is often associated with other congenital anomalies, leading to a poor fetal prognosis.
Observation:
- A rare case of IE was diagnosed in a 44-year-old pregnant female at 26 weeks gestation via ultrasound, with detailed assessment at 36 weeks using fetal MRI.
- Imaging revealed extensive anomalies including cervical meningocele, occipital bone defect, cervical spina bifida, vertebral malformations, facial deformities, aortic coarctation, and hypoplastic lungs.
Findings:
- The fetal MRI and ultrasound findings confirmed a complex presentation of iniencephaly with multiple systemic malformations.
- Pathological examination post-termination of pregnancy corroborated the detailed radiological diagnoses.
Implications:
- This case emphasizes the critical role of multimodal imaging (ultrasound and MRI) in accurately diagnosing complex neural tube defects like IE.
- Accurate diagnosis through advanced imaging is crucial for informed clinical decision-making and management planning in cases of severe fetal malformations.
