Title : The etiological diagnosis of torticollis
Abstract:
Congenital bony abnormalities of the spine is not of uncommon occurrence. Failure of successive sessions of physiotherapy to re-align the deviated head is a distinctive sign that the problem is not muscular. Conventional radiographs of the cranio-cervical junction can assist early diagnosis, though sometimes are difficult to interpret because of the anatomical overlap. In this study we discussed various forms of congenital bony abnormalities in correlation with certain syndromic entities as the main causation of torticollis. The aetiology understanding of torticollis can be accomplished via the clinical and radiological phenotype, as these are the baseline tools in any diagnostic process in children /adults with complex deformities. In some children/adults we refer to 3DCT scan to further localize the abnormalities with precision. In our patients, torticollis has been presented as a symptom complex rather than a diagnostic clinical entity. We subdivided our findings in accordance with the underlying syndromic association into the following groups. Torticollis in connection with Pathologic aberration of the spine cartilaginous stage as in Spondylomegepiphyseal dysplasia; Torticollis stemmed from congenital vertebral defects that result from disruption of the induction and formation of the axial skeleton as in VATER/VACTERL association.
Torticollis resulted from MURCS association (Müllerian duct aplasia/renal agenesis/ cervicothoracic dysplasia). The purpose of this presentation is to signify the importance of the precise diagnosis of the underlying etiologies in children presented with congenital torticollis. The prevailing misconception among the vast majority of orthopaedic surgeons that congenital muscular torticollis is the most common was the reason behind the development of morbid consequences. Unfortunately, on the basis of muscular torticollis, most children received extensive physical therapy and stretching exercises which might lead to unpleasant outcomes. Comprehensive understanding of the clinical phenotype in these children is the baseline tool to achieve proper management.
