ABSTRACT

To present clinical and ultrasonographic features of two fetal diastematomyelia cases diagnosed prenatally.

The first presented case was a 19 years old, gravida 1, para 0 woman and was admitted to our perinatology clinic at 21 weeks of gestation. She was referred with a prediagnosis of spina bifida at the level of fifth lumbar vertebra. A widening of spinal canal, echogenic bony spur traversing the spinal canal, intact skin and soft tissues overlying the affected spinal segment were detected upon detailed ultrasonographic examination. There were no associated spinal anomalies and maternal serum alphafetoprotein level was in normal ranges. The patient was counseled about the malformation and its favourable prognosis. The baby girl was delivered at 38 weeks of gestation and she underwent an operation for correction of the tethered cord at 3 months of age. Now, she is 8 months old having no neurological sequelae. The second case was 22 years old, gravida 1, para 0 woman and was referred to our perinatology clinic at 19 weeks of gestation. Upon detailed ultrasonographic evaluation, an abnormal appearance of spinal curvature, intact skin overlying the spine and a bony spur traversing the spinal cord were detected whereas there were no cranial signs of open spina bifida. Magnetic resonance imaging (MRI) revealed diastematomyelia and severe kyphoscoliosis. Fetal karyotype, maternal serum alphafetoprotein and amniotic fluid acetylcholinesterase (AF-AChE) analyses were normal. The pregnancy was terminated at 20 weeks of gestation.

Diastematomyelia is a rare abnormality of the spinal canal which may be associated with other spinal anomalies. The ultrasonographic findings of diastematomyelia are a widening of the spinal canal and a bony spur traversing the spinal canal. Isolated cases of diastematomyelia have an excellent prognosis with surgical repair.

Keywords: Prenatal diagnosis, fetal, ultrasonography, diastematomyelia