One of the first reports of TSC in the literature was made by Johnson in 1857. He performed surgery on a child with progressive weakness in the lower extremities, and discovered a lipoma in the lumbar region associated with an abnormal lower and frankly tethered cord [5]. Similarly, Jones reported a surgery where he untethered the spinal cord in a patient with lower limb atrophy, difficulty in micturition, and back pain, who after surgery demonstrated improvement in motor and urinary symptoms [6]. Since the mid-twentieth century TSC has been definitively established as the major link between the anatomy and the symptoms in many congenital pathologies including diastematomyelia, spinal lipomas, thickened filum terminale , lipomyelomeningoceles, meningoceles, myelomeningoceles, and dermal sinus tracts. Fuchs introduced the term myelodysplasia to refer to patients with deep tendon reflexes and sensorial alterations associated with foot deformities who also had spina bifida occulta [1, 4–6, 8, 9]. In 1953 Garceau described a neurological syndrome associated with spinal deformity that he called filum terminale syndrome [26]. It was not long before the relationship between activities and the exacerbation of symptoms was established [7], the mechanism that fully explains TSC symptoms as a result of tension throughout the spinal cord: caudal cord ischemia resulting from mechanical tension [10–12].

At the level of the conus medularis, the spinal cord is attached to the filum terminale, which is a pia mater band that extends to the lower level of the spinal canal. Normally, the length of this band is enough to allow movements without producing any tension over the length of the spinal cord. In addition, the spinal roots are free inside the spinal canal and are not tethered to any structure in the intra- or extraforaminal space. When the filum terminale or the nerve roots are attached or tethered to some structure, range of motion is reduced and an increase occurs in the mechanical tension applied on the nervous structures [1, 13, 14]. It has been shown that this traction associated with movement causes disturbances in blood flow and oxidative metabolism that can produce ischemia and worsening neurologic function [10–12]. This is thought to explain why the release of the filum and roots produces significant improvement of symptoms. In addition to this traction, we also know that in some patients an intrinsic defect in the spinal cord or spinal nerves may produce an alteration in nerve transmission that cannot be remedied by surgery [1, 15].

An important percentage of patients with TCS may have skin stigmata (see Chap. 8) raising the suspicion of a closed spinal dysraphism and tethered cord. Those findings are localized in the midline, can be cutaneous lipomas, tails, dermal sinuses, atypical dimples, deviations of gluteal crease, hamartomas, hemangiomas, port-wine stains, hypertrichosis, and pigmentary nevus, among others [22]. Some studies support a higher risk of TSC with the presence of more than one of those [23].