Caudal Regression Syndrome

Caudal Regression Syndrome (CRS) is a rare malformation syndrome associating to varying degrees agenesis of the coccygeal or lumbosacral vertebrae.This vertebral anomaly can therefore be reduced clinically to a simple coccygeal agenesis without any deficit or even lumbosacral agenesis accompanying a clinical picture with sphincter disorders associated or not with transit disorders and various deficits involving the lower limbs.This syndrome is accompanied by other orthopedic malformations such as shortening of the lower limbs, and / or gastrointestinal abnormalities, see also genitourinary as well as cardiovascular.Its incidence is 1 to 5 cases per 100,000 births. Its precise cause has not yet been identified, but its relationship to maternal diabetes is well established. We report in our study 5 patients with CRS from different clinics whose sphincter disorders were found in the foreground in all our patients and whose results vary according to the inaugural clinical picture. MRI made it possible to refine and confirm the diagnosis highlighting the congenital anomaly and the associated lesions.We have obtained 75% good results and 25% clinical stabilization; nor do we deplore any case of aggravation or death. The interest is to suspect the diagnosis of CRS; document it at the start of the prenatal period and determine its severity and associated abnormalities in order to present options for patient management; because once the diagnosis is made, surgical treatment becomes imperative due to the formidable neurological sequelae compromising the functional prognosis.

Congenital Osseous Torticollis that Mimics Congenital Muscular Torticollis: A Retrospective Observational Study

It may be difficult to diagnose congenital osseous torticollis based on physical examinations or plain X-rays, especially when children have no other accompanying congenital defects. This study reports the children with torticollis caused by the vertebral anomaly with the symptom of abnormal head and neck posture only. We retrospectively reviewed the records of 1015 patients diagnosed with congenital torticollis in a single tertiary hospital (Incheon St. Mary’s Hospital, Korea) who were referred from a primary local clinic. We included those with deficits in passive range of motion (PROM) of neck. Ultrasonography of the sternocleidomastoid (SCM) muscles, ophthalmologic and neurologic examinations, and cervical X-rays were performed for all patients. If bony malalignment was suspected from X-ray, three-dimensional volume-rendered computed tomography (3D-CT) was performed. Ten patients were diagnosed with osseous torticollis with no defect other than bony anomalies. Although X-ray images were acquired for all patients, vertebral anomalies were definitely confirmed in three cases (30.0%) only, and the others (70.0%) were confirmed by CT. The most common type of vertebral anomaly was single-level fusion. Identifying congenital vertebral anomalies is challenging especially when the degree of invasion is only one level. Although abnormal findings on X-rays may be subtle, a careful examination must be performed to avoid misdiagnosis.

Vertebral, intraspinal and other organ anomalies in congenital scoliosis

Aims This study was undertaken to describe the pattern of vertebral, intraspinal and other organ anomalies in patients with congenital scoliosis and to determine the correlation between them. Methods Complete medical and radiological records of 227 consecutive patients with congenital scoliosis were analysed. The radiographs were examined for type of vertebral anomaly, location and severity of deformity. The median curve progression index (MCPI) was calculated in 198 patients. The magnetic resonance imaging (MRI) of the whole spine was analysed to detect the presence of cord abnormalities. The presence of other organ-system anomalies was also noted. The independent sample t test was used to compare severity of deformity between those with and without cord anomalies. The Chi-square test was used to compare frequency of cord abnormalities in different vertebral and organ-system anomalies. Results Hemivertebra with contralateral bar had the highest MCPI, while block vertebrae and wedge vertebrae had the lowest MCPI. Forty-eight patients had 83 cord anomalies. There was no statistically significant difference in severity of deformity, between those with and without cord anomalies. Failure of segmentation had the highest frequency of cord anomalies (p = 0.01). There was no significant difference in the frequency of cord anomalies between those with and without other organ defects. Conclusion Curve progression can be predicted by the underlying vertebral abnormalities. However, it cannot predict cord and other organ-system anomalies. Thus, all patients with congenital scoliosis must undergo MRI of the spine, electro- and echocardiography and ultrasonography of the abdomen to detect occult abnormalities and optimize the patient prior to deformity correction.