1/3. klippel-feil syndrome, iniencephalus, anencephalus, hindbrain hernia and mirror movements: overdistention of the neural tube.Bony anomalies encountered in the 'no neck' form of klippel-feil syndrome (KFS) are a wide, short, fused, bifid, retroflexed spinal canal; craniolacunia, cranium bifidum, and acrania. The only symptom may be mirror movement (MM). The CNS anomalies are hindbrain hernia, hydrocephalus, hydromyelia, syringomyelia, meningocele, myelocele, encephalocele, and anencephalus. In severe KFS, i.e. iniencephalus (IN) and in anencephalus (AN), the inion is in contact with the back. In both there is hindbrain hernia and the left thorax may contain the stomach tethered to an anterior spina bifida. KFS results from distortion of somites by an overdistended neural tube. A neural tube that fails to close cannot overdistend.- - - - - - - - - - ranking = 1keywords = hindbrain (Clic here for more details about this article) |
2/3. Familial syringomyelia: case report and review of the literature.We report a case of familial syringomyelia consisting of two sisters, one of whom had syringomyelia and Chiari type I malformation and the other, who had died 5 years earlier, had syringomyelia and klippel-feil syndrome. Although syringomyelia is uncommon and familial cases rare, they continue to be reported from time to time. review of the literature certainly suggests that genetic factors play a part in the etiopathogenesis of syringomyelia related to abnormalities of the hindbrain structures, although the number of cases is too small for the exact nature of transmission be established.- - - - - - - - - - ranking = 0.16666666666667keywords = hindbrain (Clic here for more details about this article) |
3/3. Klippel-Feil sequence and sleep-disordered breathing in two children.We report two children with severe sleep-disordered breathing associated with Klippel-Feil sequence. In both patients, minor vertebral anomalies were associated with a major hindbrain anomaly. In one child, the Klippel-Feil sequence had been diagnosed previously, but the hindbrain anomaly was not recognized. Two years later, this child developed fatal obstructive sleep apnea. In the other child, neither the Klippel-Feil sequence nor hindbrain anomaly had been identified before the child's presentation with sleep-disordered breathing characterized by bradypnea and stridor. Because many of the complications of hindbrain anomalies may be amenable to neurosurgical treatment, we recommend that patients with Klippel-Feil sequence be followed for the development of sleep-disordered breathing. sleep complaints need prompt evaluation with polysomnography, whereas neurologic signs require imaging with attention to the cervicomedullary junction. Unsuspected CNS disorders must be considered in children who present with stridor or serious respiratory disturbances during sleep.- - - - - - - - - - ranking = 0.66666666666667keywords = hindbrain (Clic here for more details about this article) |