The aetiology behind torticollis and variable spine defects in patients with Müllerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome: 3D CT scan analysis

The aim of the article is fourfold; firstly, to detect the aetiology of torticollis in patients with Müllerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome; secondly, spine pathology in Müllerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome varies considerably from one patient to another and there are remarkable differences in severity and localization; thirdly, mismanagement of congenital spine pathology is a frequent cause of morbid/fatal outcome; and fourthly, the application of prophylactic surgical treatment to balance the growth of the spine at an early stage is mandatory. Reformatted CT scans helped in exploring the craniocervical and the entire spine in these patients. The reason behind torticollis ranged between aplasia of the posterior arch of the atlas, assimilation of the atlas and extensive fusion of the lower cervical vertebrae (bilateral failure of segmentation) in four patients; in one patient, in addition to the hypoplastic posterior arch of the atlas, we observed ossification of the anterior and the posterior longitudinal spinal ligaments giving rise to a block vertebrae-like suggestive of early senile ankylosing vertebral hyperostosis (Forestier disease). Scoliosis at different spine levels was attributable to variable spine defects. Pelvic ultrasound showed the classical renal agenesis in four patients; whereas in one patient, the MRI showed pelvic cake kidney (renal fused ectopia) associated with ovarian, uterine and vaginal abnormalities. This is the first exploratory study on the craniocervical and the entire spine in a group of patients with MURCS association.