title: Thoracolumbar syrinx in association with Williams syndrome.
abstract: Williams syndrome is a genetic condition caused by a deletion on chromosome 7. Clinically it consists of multiple cardiovascular and craniofacial structural abnormalities as well as developmental delay, specific cognitive difficulties, and a characteristic personality. Although scoliosis is a noted manifestation of the disorder, syrinx in association with Williams syndrome has not been reported previously in the literature. Here we present the case of a child with Williams syndrome, scoliosis, and a thoracolumbar syrinx that was successfully treated surgically. We recommend that children with Williams syndrome and scoliosis undergo preoperative evaluation of the spinal cord, as well as the spinal column, so that correctable lesions such as a syrinx are not overlooked. Although syrinxes are often associated with scoliosis, the association in this case of syrinx and Williams syndrome could imply the existence of a genetic contribution to syrinx formation on chromosome 7.
authors.affiliation: Department of Neurosurgery, Allegheny General Hospital, 420 E North Ave, Suite 302, Pittsburgh, Pennsylvania 15212, USA. dbcmd@hotmail.com
authors.forename: David B
authors.initials: DB
authors.lastname: Cohen
authors.forename: Matthew R
authors.initials: MR
authors.lastname: Quigley
mesh_terms: D002897:Chromosomes, Human, Pair 7 / Q000648:ultrastructure; D004322:Drainage; D004392:Dwarfism / Q000209:etiology; D019066:Facies; D005260:Female; D005764:Gastroesophageal Reflux / Q000209:etiology; D006801:Humans; D007223:Infant; D008159:Lumbar Vertebrae; D008279:Magnetic Resonance Imaging; D008831:Microcephaly / Q000209:etiology; D012600:Scoliosis / Q000209:etiology*; D017384:Sequence Deletion; D013285:Strabismus / Q000209:etiology; D013346:Subarachnoid Space; D013595:Syringomyelia / Q000209:etiology* / Q000601:surgery; D013904:Thoracic Vertebrae; D018980:Williams Syndrome / Q000150:complications*