Occipital Cephalocele

Case A: Axial ultrasound images through the head demonstrate an occipital encephalocele. A tangential image through the head, upper thorax, and hand demonstrates postaxial polydactyly. The history of cystic renal enlargement in conjunction with postaxial polydactyly and an occipital encephalocele is diagnostic.

Case B: A sagittal ultrasound image through the fetus demonstrates a high cervical/low occipital cephalocele. An axial ultrasound image through the head clearly demonstrates brain tissue protruding into the cephalocele sac. A single sagittal T2 fetal MRI demonstrates a hindbrain malformation with downward herniation of the cerebellar tonsils associated with a high cervical/occipital meningoencephalocele that contains malformed cerebellar tissue.

Case C: A sagittal image demonstrates an occipital meningoencephalocele with a large cephalocele sac extending inferiorly. The coronal image demonstrates the midline skull defect and protruding encephalocele to better advantage. The axial image demonstrates a thickened, smooth cortex with only minimal shallow sulci in conjunction with irregularity of the gray-white matter junction; these findings are characteristic of cobblestone lissencephaly.