A case of iniencephaly in a 36 week-old human female fetus

The purpose of this investigation was to characterize iniencephaly, a neural tube defect (NTD), in a 36-38 week-old human female fetus. Iniencephaly is a fatal, anatomic anomaly that lacks a direct etiology. However, multiple factors (i. e., medications, teratogens, nutrient deficiency, etc.) suggest a shared causation. Clinically, it is important to differentiate iniencephaly from other NTDs and conditions that can be treated such as nuchal tumor, Klippel-Feil syndrome (KFS) and Sprengel's deformity, etc. The fetus was evaluated by physical examination, gross measurement, observation and dissection. To examine the defects associated with iniencephaly, digital radiologic image acquisition was done using full -body x-ray films, and high-resolution CT Scans and MRI Scans. Image analysis, multi-planar reformatting, and 3D-reconstruction were done on radiographic series. A large occipital encephalocele protruded from the dorsal surface of the cranium secondary to a large defect in the occipital bone, and the frontal bone and left and right parietal bones were depressed. Severe retroflexion of the head resulting in the absence of a neck and irregular curvature of the cervical spine was seen in x-ray, CT and MRI. CT and MRI revealed esophageal atresia, renal atresia and hypoplastic lungs. The present work has characterized a case of the rare deformity, iniencephaly, with associated defects of rachischisis, cervicothoracic lordosis, esophageal atresia, hypoplastic lungs and renal atresia. This study provides insight into the early embryonic development of a NTD and useful information for clinicians to distinguish iniencephaly from similar defects.