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.

A Case Report of a Colorectal and Caudal Duplication Syndrome Associated with Caudal Regression Syndrome

We describe an uncommon clinical presentation of caudal duplication syndrome and features of caudal regression syndrome in a female infant with complex urogenital and colorectal duplication associated with lipomyleomeningocele and left lower limb hypoplasia. A staged surgical treatment plan was carried out to maintain fecal and urine continence, potential fertility, and cosmetic appearance.

Sirenomelia: two case reports

BackgroundSirenomelia, also called mermaid syndrome, is a rare lethal multi-system congenital deformity with an incidence of one in 60,000–70,000 pregnancies. Sirenomelia is mainly characterized by the fusion of lower limbs and is widely associated with severe urogenital and gastrointestinal malformations. The presence of a single umbilical artery derived from the vitelline artery is the main anatomical feature distinguishing sirenomelia from caudal regression syndrome. First-trimester diagnosis of this disorder and induced abortion may be the safest medical option. In this report, two cases of sirenomelia that occurred in an white family will be discussed.Case presentationWe report two white cases of sirenomelia occurring in a 31-year-old multigravid pregnant woman. In the first pregnancy (18 weeks of gestation) abortion was performed, but in the third pregnancy (32 weeks) the stillborn baby was delivered by spontaneous vaginal birth. In the second and fourth pregnancies, however, she gave birth to normal babies. Three-dimensional ultrasound imaging showed fusion of the lower limbs. Neither she nor any member of her family had a history of diabetes. In terms of other risk factors, she had no history of exposure to teratogenic agents during her pregnancy. Also, her marriage was non-consanguineous.ConclusionThis report suggests the existence of a genetic background in this mother with a Mendelian inheritance pattern of 50% second-generation incidence in her offspring.

CAUDAL REGRESSION AND VACTERL ASSOCIATION IN A CHILD FROM MULTIPLE PREGNANCY (TWINS) AFTER THE USE OF ASSISTED REPRODUCTIVE TECHNOLOGIES

The article presents a case of a very rare malformations combination in a child born from multiple pregnancy (twins) after in vitro fertilization. The premature boy was born the second at 35,4 weeks by caesarean section for premature membranes rupture. The child had malformations of the thoracic vertebrae, ribs, kidneys and urinary system, esophageal atresia with tracheoesophageal fistula, characteristic for VACTERL association. At the same time, other anomalies of the sacral spine, lower extremities and lower urinary tract matched the classic caudal regression syndrome. The data obtained in recent years indicate that abnormalities in the same genes can cause VACTERL association and caudal regression syndrome. The standard approach in the treatment of such patients involves surgical correction of abnormalities to provide adequate vital functions of gas exchange, hemodynamics and digestion. The clinical observation published in this study demonstrates the success of this approach in a patient with a combination of VACTERL association and caudal regression syndrome.