RESUMEN
OBJECT: The authors identified eight patients with Rubinstein-Taybi syndrome (RTS) and examined how the underlying conditions of this syndrome can impede the detection of symptoms associated with a tethered spinal cord. They also reviewed the literature and did not find any published series describing such an association with this syndrome. METHODS: In this retrospective review, the authors report the diagnosis, treatment, and outcome of tethered spinal cord in eight children (age range 2-14 years) with RTS. The patients presented between 1995 and 2003 with neurogenic bladder, decreased activity, gait disturbance, and low-back pain. The children were examined using whole-spine magnetic resonance (MR) imaging and, in recent years, their spinal cord movement was assessed using cine MR imaging. After undergoing lumbar laminectomy and spinal cord untethering procedures, six patients experienced improvement in symptoms associated with tethered spinal cord such as pain, urinary tract infection, incontinence, spasticity, and neurogenic bladder. CONCLUSIONS: Although some underlying conditions of RTS may mask the symptoms of a tethered spinal cord in children, careful attention to the patient's medical history as provided by his or her parents may aid in early diagnosis, evaluation, and treatment, thus preventing further neurological deterioration and leading to improved outcomes.
Asunto(s)
Defectos del Tubo Neural/complicaciones , Defectos del Tubo Neural/diagnóstico , Síndrome de Rubinstein-Taybi/complicaciones , Adolescente , Cauda Equina/cirugía , Niño , Preescolar , Femenino , Marcha , Humanos , Laminectomía , Dolor de la Región Lumbar/etiología , Vértebras Lumbares/cirugía , Imagen por Resonancia Magnética , Imagen por Resonancia Cinemagnética , Masculino , Espasticidad Muscular/etiología , Espasticidad Muscular/fisiopatología , Defectos del Tubo Neural/fisiopatología , Defectos del Tubo Neural/cirugía , Estudios Retrospectivos , Resultado del Tratamiento , Vejiga Urinaria Neurogénica/etiología , Incontinencia Urinaria/etiologíaRESUMEN
Children and adults with Rubinstein-Taybi Syndrome have specific medical conditions that occur with greater frequency than the general population. Based on the available information from the literature and clinical experience, recommendations for specific surveillance and interventions are made to guide those clinicians caring for individuals with Rubinstein-Taybi Syndrome. This is a first attempt at medical guidelines for individuals with RTS in the United States. On-going research is needed in many areas to guide decisions in medical care and allow for refinement of these medical guidelines.