|Disclaimer: This book was created after the 1998 Family Conference. The articles are important to all of those involved with RTS. This is online without permission from Dr. Rubinstein and the Cincinnatti Rubinstein-Taybi organization. They would prefer that you call Dr. Rubinstein at 1-800-344-2462 ext. 4621 and request a copy of the book. I would encourage everyone, especially those with a child who has RTS to call the above number and request a copy of this book. I have been reassured by Mark Shannon that this book will be sent to anyone who requests it, regardless of country.|
All the information from the book is not online (another reason to call and request the book). Left out are articles which are copyrighted or are not appropriate for the web site (includes list of attendees). All articles which are deemed “public domain” are included..
|The Tethered Spinal Cord|
|Thomas S. Berger, M.D.|
Childrens Hospital Medical Center
|Initially during development in the womb the spinal canal is open to the outside and it fills the entire spine. Within 30 days of conception, the spinal canal is closed and by the end of the first year of life the spine reaches its adult level in the spinal canal. The average level is between the 1st and 2nd lumbar vertebra.|
|Any process that interferes with this normal development may cause tethering. Tetherine may be defined as a low position of the spinal cord caused by and/or associated with fixation (tethering). the most common cause of this process is a collection of fat in the distal part of the spinal cord that may come out to a collection of fat under the skin (lipomeningocele). Another common cause is a thickened distal projection of the spinal cord called the filum terminale. Part of this thickening may include fat. The cases of tethering that have been described wtih Rubinstein-Taybi syndrome are usually associated with a thickened filum terminale.Symptoms and signs associated with tethering may include a midline lumbar skin lesion such as a fat tumor (lipoma), a birth mark, hemangioma or a dimple (pit). Ther emay be back pain scoliosis, bowel and urinary incontinence, leg and foot deformities. Early in life many children are asymptomatic. Symptoms and signs tend to occur with growth spurts.The most definitive diagnostic test is the MRI scan. In some institutions this may include a MRI movie (cine study) to evauate spinal cord movement. Early in infancy ultrasound of the spine is a good screening tool.It is recommended that all patients in which there is suspicion of a tethered spinal cord should have imaging. This suspicion may be based on a condition associated with tethering (Rubinstein-Taybi syndrome), external signs such as skin lesions int he midline lumbar area, or clinical signs and symptoms. If there is a tethering demonstrated on imaging then surgical repair is recommended even if there are no clinical signs and symptoms. Anecdotal data mainly based on children with lipomeningocele imply that the risk of surgical repair is much less than the risk of observation. There are no prospective randomized studies to evaluate this form of management including those with Rubinstein-Taybi syndrome.|