2007-09-05-15 Answer to the case of the week #211 © Volkov www.TheFetus.net

Answer to the case of the week #211

January 31, 2008 - February 14, 2008

Fabrice Cuillier, MD*; T. Gervais, MD**; J. M. Scemama, MD**; J.M. Laville, MD***; F. Salmeron, MD***; J.P. Riviere, MD****; A. Bertha*****.

Case report

A 24-year-old G2P1, with noncontributive history, was referred to our unit at 23 weeks of pregnancy. Her first sonography at 13 weeks seemed to be normal. The nuchal translucency was 1 mm (crown-rump length 58 mm). The triple test was also normal. During our ultrasonographic examination we could observe:

• Cervicothoracic kyphoscoliosis;

• Normal head and normal ear implantation;

• Dextroposition of the heart;

• Left pyelectasis, without bladder anomalies;

• Normal extremities of the fetus.

An amniocentesis revealed normal karyotype (46,XX). At 29 weeks a spiral CT scan was done and two hemivertebrae in the thoracic region and kyphoscoliosis were visible. A posterior fusion of the ribs was suspected by 3D ultrasound.

At 30 weeks an MRI was done. The two lungs were present. A right pulmonary agenesia was eliminated. A diastematomyelia was eliminated either.

We thought about a few different diagnoses: Klippel Feil syndrome, Spondylocostal dysostosis (or Jarcho-Levin syndrome), Spondyloepiphyseal dysplasia.

The parents opted for the interruption of the pregnancy at 32 weeks.

A postmortem radiography showed scoliosis with two hemivertebrae and fusion of the second, third, fourth and fifth ribs. Autopsy showed multiple cervical and thoracic vertebral malformations with disorganization and fusion of malformed vertebral bodies. There was bilateral fusions and splaying of some ribs.

The final diagnosis was spondylocostal dysplasia (spondylothoracic dysplasia type II).

Images 1, 2: 23 weeks of pregnancy; Image 1 shows a transverse scan of the normal looking fetal head. Image 2 shows sagittal scan through the deformed fetal spine (cervicothoracic kyphoscoliosis).

Images 3, 4: 29 weeks of pregnancy. 3D images show deformed fetal spine.

Images 5, 6: 29 weeks of pregnancy. 3D images show deformed fetal spine.

Images 7, 8: 29 weeks of pregnancy. Image 7 shows a dextroposition of the heart with its normal anatomy. Image 8 shows a mild left renal pyelectasis (left part of the image; right part of the image shows normal appearance of the right kidney).

Images 9, 10: 29 weeks of pregnancy; Spiral CT shows spinal deformity of the fetus. At the image 9 a fusion of the upper left ribs is visible and there were just ten ribs on the left side. 

Images 11, 12: 29 weeks of pregnancy; Spiral CT shows spinal and rib"s deformities of the fetus.

Images 13, 14: 29 weeks of pregnancy; Spiral CT shows spinal deformity of the fetus.

Images 15, 16: 30 weeks of pregnancy; MRI shows spinal and chest deformity of the fetus, but with well preserved lung"s volume.

Images 17, 18: Postmortem X-ray images showing spinal chest deformities. Images show vertebral anomalies and fused ribs. Note the increased spacing of the ribs on the right side and the decreased spacing of the ribs on the left side. There were only ten ribs on the left side with fusion of the second, third, fourth and fifth ribs.