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Closed spinal dysraphism: Clinical manifestations, diagnosis, and management

Closed spinal dysraphism: Clinical manifestations, diagnosis, and management
Author:
Chaouki Khoury, MD, MS
Section Editors:
Marc C Patterson, MD, FRACP
Moise L Levy, MD
Deputy Editor:
John F Dashe, MD, PhD
Literature review current through: Dec 2022. | This topic last updated: Apr 27, 2022.

INTRODUCTION — Neural tube defects are congenital anomalies of neural development with a spectrum of clinical manifestations; they can affect the cranium or spine. They are the second most common congenital disability after congenital heart defects [1].

Cranial defects include anencephaly, exencephaly, and encephalocele. (See "Primary (congenital) encephalocele" and "Anencephaly".)

Open spinal dysraphism (spina bifida aperta) is characterized by a cleft in the spinal column, with herniation of the meninges (meningocele) or meninges and spinal cord (myelomeningocele) through the defect. (See "Myelomeningocele (spina bifida): Anatomy, clinical manifestations, and complications" and "Myelomeningocele (spina bifida): Management and outcome".)

Closed spinal dysraphism (CSD) (also known as occult spinal dysraphism or spina bifida occulta) is characterized by failure of fusion of the vertebral bodies due to abnormal fusion of the posterior vertebral arches, with unexposed neural tissue; the skin overlying the defect is intact. The more common and least severe forms consist of isolated vertebral bony defects. However, the vertebral defects may occur in association with other more severe anomalies of the spinal cord and sacral structures, such as split spinal cord malformation or various cavitary defects of the spinal cord.

This topic will review the clinical manifestations, diagnosis, and management of closed spinal dysraphism. The etiology and different forms of closed spinal dysraphism are reviewed elsewhere. (See "Closed spinal dysraphism: Pathogenesis and types".)

TYPES OF CLOSED SPINAL DYSRAPHISM — The types of closed (occult) spinal dysraphic anomalies are discussed in detail separately. (See "Closed spinal dysraphism: Pathogenesis and types", section on 'Pathogenesis of closed spinal dysraphic anomalies'.)

Briefly, the spinal dysraphic anomalies can be classified into three groups, based on the developmental stage at which they are thought to arise:

Anomalies of notochord development (see "Closed spinal dysraphism: Pathogenesis and types", section on 'Anomalies of notochord development'):

Neurenteric cysts

Split notochord syndrome

Split spinal cord malformation

Sacral meningeal cysts or sacral meningocele

Dorsal dermal sinus tracts and cysts

Abnormalities of primary neurulation (see "Closed spinal dysraphism: Pathogenesis and types", section on 'Abnormalities of primary neurulation'):

Syringohydromyelia

Spina bifida occulta

Spinal lipomas and teratomas

Anomalies of the caudal cell mass and secondary neurulation (see "Closed spinal dysraphism: Pathogenesis and types", section on 'Anomalies of the caudal cell mass and secondary neurulation'):

Tight filum terminale

Terminal diplomyelia

Sacrococcygeal teratomas

Caudal regression or sacral agenesis

Although described separately, more than one dysraphic state commonly coexists in the same patient.

CLINICAL MANIFESTATIONS — The clinical manifestations of closed (occult) spinal dysraphism (CSD) vary widely. The vast majority remains asymptomatic or very minimally symptomatic, such that patients never seek medical care. Others become symptomatic in adulthood. They may then present with spondylosis, degenerative disc disease, congenital and/or spinal stenosis, among others. However, some patients have severe presentations, including neurologic, genitourinary, gastrointestinal, or musculoskeletal anomalies [2-4].

In a retrospective series of 47 cases of symptomatic CSD collected at two university hospitals in the Netherlands, the age at diagnosis ranged from the postnatal period to 14 years (mean age 2 years). The early clinical signs and symptoms in these cases involved the following categories [5]:

Tethered cord syndrome in 33 patients (70 percent) as manifested by:

Neurologic abnormalities in the legs (ie, motor weakness, sensory loss, reflex changes, abnormal plantar responses)

Urologic symptoms (ie, urinary incontinence/retention, urinary tract infections)

Orthopedic problems (ie, foot deformities, scoliosis, leg length discrepancy, kyphosis)

Dermatologic lesions in 28 patients (60 percent), as manifested by dimples, hypertrichosis, nevi, hyper/hypopigmentation, and hemangiomas

Presence of a subcutaneous back mass in 19 patients (40 percent)

The clinical presentation varies to some degree by age. Younger children tend to present with cutaneous markers that lead to an evaluation for CSD [6]. They usually do not present with neurologic symptoms. However, on formal testing, most have mild signs of lower motor neuron dysfunction and abnormalities on urodynamic testing [7,8]. Older children and adolescents tend to present with either cutaneous stigmata or with progressive neurologic deficits. Some affected individuals remain asymptomatic into adulthood, at which time they may develop back pain with or without radiculopathy and perineal dysesthesias [8,9]. Other adults present with enuresis as the primary complaint due to adult primary tethered cord syndrome [10].

Cutaneous — A number of sacrococcygeal cutaneous lesions are associated with CSD (table 1), including fibroma pendulum (skin tag), dermal sinus tracts (picture 1), dimples or pits (picture 2), hypertrichosis, hyperkeratosis, areas of hyperpigmentation or hypopigmentation, hemangiomas (picture 3), pigmentary nevus, capillary malformations (port wine stains), subcutaneous lipomas and less commonly hamartomas, caudal appendages (true tail or pseudotail), and isolated deviation of the intergluteal cleft. One or more such cutaneous lesions are identified in 50 to 90 percent or more of patients with CSD in retrospective reports [5,11-15]. Prospective data are limited, but one prospective study that evaluated 48 children with hemangioma overlying the midline lumbar or sacral spine, most of whom were asymptomatic, found evidence of CSD (intraspinal lipoma or hemangioma, structural malformations of the cord, or tethered cord) by MRI or ultrasound in 21 (44 percent) [16].

Neurologic — The neurologic manifestations in patients with CSD are highly variable. Patients most often present with signs and symptoms related to lumbosacral spinal dysfunction, with autonomic and sphincteric dysfunction being more common and occurring earlier than sensorimotor deficits in the legs [7,17,18]. Less commonly, patients can present with meningitis (image 1) due to a ruptured dermal sinus or cyst [2,19]. Some affected individuals are completely asymptomatic [20].

The nature of the neurologic deficit may be static or progressive, with tethering and cord compression by extradural masses being common causes of progression. Lesions that are asymptomatic in infancy and early childhood may subsequently lead to neurologic deficits if untreated, which stresses the importance of thorough evaluation and early treatment in these patients [20,21].

Autonomic symptoms usually consist of urinary retention or incontinence [18,22], more subtle symptoms such as dysuria or recurrent urinary tract infections [18], or bowel obstruction in infancy or intractable constipation in childhood [2]. Sensorimotor symptoms may include leg weakness, decreased or increased muscle tone, or sensory deficits of the legs and perineal area [18,20,22]. In some cases, sensory loss can lead to atrophic ulceration of the skin.

Tethered cord syndrome — The tethered cord syndrome is caused by a stretch-induced dysfunction of the caudal spinal cord and conus. It can be a presentation of several forms of CSD, including spinal lipomas (image 2), tight filum terminale (image 3), split cord malformations, and the caudal regression syndrome [23]. The constellation of symptoms variably associated with the tethered cord syndrome includes back pain, bladder dysfunction, leg weakness, calf muscle atrophy, diminished or absent deep tendon reflexes, and dermatomal sensory loss [24]. Orthopedic signs include progressive scoliosis and various foot deformities. The pathogenesis of tethered cord syndrome is reviewed elsewhere. (See "Closed spinal dysraphism: Pathogenesis and types", section on 'Tethered cord syndrome'.)

In toddlers and children, tethered cord syndrome typically presents with progressive motor and sensory dysfunction, which may include gait abnormalities and loss of bladder control [25]. Older children and adolescents are more likely to complain of pain in the lumbosacral region, perineum, and legs. The tethered cord syndrome causes spinal dysfunction caudal to the T12/L1 spinal level and does not explain upper motor neuron signs. Therefore, patients should be evaluated for more proximal cord lesions if upper motor neuron signs (eg, spasticity or hyperreflexia) are present [17].

In the classic progression of symptoms with tethered cord syndrome, children begin to stumble after they have learned to walk normally [26]. Then they start dribbling urine after having achieved successful toilet training. Later, they develop musculoskeletal signs and symptoms; common findings include foot drop, painless sores, and scoliosis. Older children will often complain of back pain exacerbated by exercise, while younger children tend to have increased irritability and refuse to perform certain activities and movements, though without a frank complaint of pain.

Back pain, leg pain, and scoliosis are the primary symptoms of tethered cord syndrome in adults, and these may be difficult to distinguish from other more common causes of chronic back pain [27]. The earliest sign of motor dysfunction in the older child and adult with tethered cord syndrome is usually weakness of ankle dorsiflexion [28]. Sensory symptoms usually are patchy and vague, especially when related to tethered cord syndrome.

Urologic — In childhood, the most common cause of neurogenic bladder is spinal dysraphism [29]. However, the true prevalence of urologic involvement with CSD is unknown, and the diagnosis of bladder dysfunction is often delayed, particularly for pretoilet trained children. The problems are illustrated by the findings from a tertiary center that reported a series of 51 children with CSD, ages 6 months to 10 years (mean age 3 years) [30]. These patients were referred for a variety of reasons:

Urinary tract problems, 25 patients:

Incontinence, 17

Recurrent urinary tract infections, 6

Abnormal renal tract investigations at other hospitals, 2

Neurologic deterioration, 12 patients

Dermatologic abnormality overlying the lower spine, 8

Videourodynamic assessment following spinal surgery, 5

Fecal incontinence, 1

Of note, many of the children had normal or near-normal mobility, and in many cases bladder difficulty was not recognized before toilet training. The neurologic examination was normal or had only minor objective abnormalities in 33 patients. The spinal lesions predominantly involved lumbar or sacral levels and consisted of the following types of CSD [30]:

Tethered cord (29 patients) secondary to:

Intraspinal lipoma, 13 patients

Diastematomyelia, 4

Lipomeningocele, 4

Syrinx, 2

Other lesions, 6

Meningocele, 7 patients

Sacral agenesis, 5

Tethered cord with no other intraspinal abnormality, 4

Dysraphism and intraspinal lipoma, 2

Syrinx, 2

Dysraphism, 1

Lipomeningocele, 1

Ultrasound of the renal tract was normal in 21 children; abnormal findings included dilated upper renal tracts, postmicturition residual volume, thickened bladder walls, unilateral small kidney, and renal scars [30]. Videourodynamic studies were abnormal in 49 of the 51 patients, with the following types of dysfunction:

Detrusor hyperreflexia in 42 patients

Incomplete bladder emptying in 35

Detrusor sphincter dyssynergia in 22

Decreased bladder compliance in 21

Vesicoureteric reflux in 13

Fixed (nonrelaxing) distal sphincter in 5

A combination of two or more abnormalities in 31

These data suggest that children with CSD are at risk for neurogenic bladder dysfunction and kidney injury; neither the history of voiding habit nor the clinical neurologic examination is a reliable predictor of urologic problems [30].

Musculoskeletal — Orthopedic problems that may occur with CSD include scoliosis, kyphosis, lordosis, leg length discrepancy, and foot deformities [22,26,28,31,32].

The simplest form of CSD is posterior spina bifida (ie, a fusion defect of the posterior neural vertebral arch), which most commonly occurs at L5 or S1 [23]. This finding may be incidental and clinically asymptomatic or may be associated with signs of cord tethering, in which case it is suggestive of an additional CSD.

In patients with split spinal cord malformations (diplomyelia and diastematomyelia), complex abnormalities of the spinal column can occur, including hemivertebral agenesis or hypoplasia, vertebral body splitting in the sagittal plane, narrowing of the intervertebral space, and fusion of multiple spinal segments [3,33]. Distorted posterior spinal elements may be present, including bifid laminae or posterior fusion.

In patients with caudal regression syndrome, the distal sacrum and coccyx may be absent [34].

Other malformations — Some patients with CSD have associated anorectal malformations (eg, imperforate anus) or urogenital malformations [2,35,36].

Pain — Pain related to CSD usually is reported in the lower back, sacrococcygeal or gluteal areas, with or without a radicular pattern [18,20,37]. Pain may be exacerbated with Valsalva maneuver in the cases of lesions that are in communication with the subarachnoid space, such as Tarlov cysts [18,38].

EVALUATION AND DIAGNOSIS — The diagnosis of closed spinal dysraphism (CSD) is suggested by the typical associated clinical findings (see 'Clinical manifestations' above), particularly the presence of cutaneous stigmata, a subcutaneous mass in the back, or neurologic symptoms consistent with the tethered cord syndrome. The diagnosis is confirmed by radiologic demonstration of a spinal dysraphic lesion.

Given the evidence reviewed below, we recommend evaluation with MRI of the entire spine for infants and children who have two or more cutaneous lumbosacral spine lesions, a subcutaneous back mass, or neurologic symptoms suggestive of tethered cord syndrome. We suggest MRI of the spine for neurologically asymptomatic infants and children who have an isolated midline cutaneous lumbosacral spine lesion that is potentially high-risk for the development of CSD. These cutaneous lesions include atypical dimples (those >5 mm in size or located >2.5 cm from the anus), hemangiomas, cutis aplasia, and upraised lesions (ie, masses, tails, and hairy patches).

Examination — Evaluation for CSD starts with a thorough history and examination. This should include a rectal exam to evaluate for cloacal abnormalities and presacral masses [2].

In the presymptomatic or mildly symptomatic patient, it is important to detect the subtle clues that suggest an underlying spinal dysraphism [17,28,39]. This is difficult in younger patients who may not be able to express symptoms and who may not have achieved continence and ambulation. Such children may only show asymmetric postures or movements, or mere irritability. In addition, some will have fluctuating symptoms, which makes their diagnosis even more challenging [28]. Such cases highlight the importance of objective signs suggesting CSD, particularly midline cutaneous lesions over the lumbosacral spine (table 1) [18,20,22,28,40]. Since these cutaneous lesions are the most obvious marker of CSD, it is understandable that they are less prevalent or obvious in patients who present in adolescence or adulthood [20].

In most studies, which are largely retrospective, the presence of two or more congenital midline skin lesions implies a higher risk of associated CSD than an isolated cutaneous lesion [41-43]. As an example, in a large series of congenital lumbosacral lipomas, the frequency of dysraphic states in patients with an isolated cutaneous lesion was low (eg, none of 14 patients with an isolated cutaneous angioma) [20].

Whether all isolated cutaneous lesions require further evaluation for CSD in neurologically asymptomatic neonates and children is controversial. Nevertheless, certain isolated cutaneous lesions in asymptomatic neonates may be high-risk for CSD [43]. These include atypical dimples, particularly those that are large (>5 mm) or located >2.5 cm above the anus, hemangiomas, cutis aplasia, and upraised lesions (ie, masses, tails, and hairy patches) [42]. In the clinical experience of some experts, hemangiomas of infancy (vascular tumors) have a higher risk of CSD compared with midline capillary malformations [44,45].

The finding of a dimple associated with deviation of the intergluteal cleft should raise suspicion for a low-lying coccygeal lipoma not detected by palpation [20,46]. One prospective series obtained spinal MRI for children less than two years of age (mean age four months) with sacrococcygeal dimples [46]. Among 47 cases with dimples located at the upper edge of a deviated (ie, curved or deformed) gluteal crease, a spinal deformity of CSD was present on MRI in 45 percent. A high rate of CSD (50 percent) was found also among 16 children with dimples located above the gluteal crease, which were sometimes associated with skin pigmentation or a duplicated gluteal crease. Even among 65 children with dimples located within a straight gluteal crease, CSD was present in 17 percent.

Imaging — Imaging is an essential part of the evaluation for CSD.

Imaging modalities – The optimal study for characterization of intraspinal and perispinal anomalies associated with CSD is MRI of the entire spine (image 2 and image 3), particularly since multiple abnormalities are often present in affected individuals [2,9,17,21,23,35,39,47].

During prenatal and early postnatal development, the conus medullaris (the most caudal end of the spinal cord) gradually shifts to a higher level, and reaches its final position at or above the L2/L3 intervertebral disc by approximately two months of age [48,49]. The finding of an anatomically low conus medullaris may be the only sign of occult tethered cord syndrome. While some reports indicate that the tethered cord syndrome can occur even in cases where the conus appears at a normal spinal cord level on MRI [50,51], there is no universally accepted definition or diagnostic criteria for tethered cord syndrome [24].

Plain radiographs are useful for detecting vertebral defects [3]. CT is also useful when the evaluation for bony abnormalities is important, especially thin-section, multi-planar CT with reformatted images [47].

In many cases, prenatal ultrasonography of the spine can identify spinal anomalies, especially if large enough [52,53]. However, some studies suggest the sensitivity of spinal ultrasound, even when performed before the age of four months (ie, prior to ossification of the posterior elements of the spine), is suboptimal for the detection of CSD [16].

Imaging criteria – Prenatal ultrasound criteria proposed in 2021 included fetal conus medullaris position to improve the CSD detection rate. These also apply to prenatal MRI if one is done. Based on an 11-year experience, they classify closed spinal dysraphism into three classes [54]:

Class 1 – Isolated low-lying conus (below L3)

Class 2 – Low-lying conus with a lump on the dorsal side (echogenic or cystic lesions)

Class 3 – Caudal regression syndrome or low-lying conus with additional major spinal defects (scoliosis, kyphosis)

Another group has proposed a sonographic algorithm to distinguish the spinal bones, even in the face of significant deformity, with the ongoing goal of developing a computer-assisted diagnosis system for CSD [55,56].

Urodynamics — Urodynamic testing can detect preclinical urologic dysfunction in children with CSD. Urodynamic testing is often used for preoperative evaluation of children who might benefit from neurosurgery for tethered cord release [57]. In a retrospective study of 123 children with cutaneous stigmata of CSD, abnormal urodynamic studies were present in 23 (19 percent). The determination of abnormal bladder function was based upon bladder capacity, bladder compliance, and level of detrusor activity (contractions) during filling. In the same study, spinal MRI was abnormal in 85 percent, suggesting its greater utility.

The method of urodynamic testing in children is reviewed separately. (See "Evaluation and diagnosis of bladder dysfunction in children", section on 'Urodynamic testing'.)

Ultrasound of abdomen and pelvis — Ultrasound of the abdomen and pelvis can assess the urinary system for pathologic changes such as a thickened bladder wall (suggesting detrusor hypertrophy), incomplete bladder emptying, upper tract dilatation, small kidney size, and renal scars [9]. However, these changes are nonspecific for the diagnosis of CSD.

TREATMENT — Surgery is considered the mainstay of treatment for closed spinal dysraphism (CSD) [8,20], although there are no data from randomized controlled trials to support or refute the efficacy of surgery. Patients with impairments due to neurologic deficits, bladder dysfunction, or chronic pain may benefit from physical and occupational therapy [26]. Surveillance and monitoring is needed to detect new or progressive deficits.

Surgery

Interventions – Different types of surgical interventions are used to treat CSD [20,32]:

Spinal neurosurgery aimed at altering the natural course of the disease, preventing further neurologic deterioration, and relieving, as much as possible, presurgical neurologic deficits.

Surgeries to correct various comorbid conditions associated with CSD, such as urinary retention, incontinence, impotence, constipation, anorectal malformations, tumors, and dorsal cutaneous lesions. These interventions involve the fields of urologic, gastroenterologic, colorectal, oncologic, plastic, and general surgery. Urologic surgery for urinary incontinence includes implantation of an artificial urinary sphincter [58], and bladder augmentation surgery [59].

In CSD cases associated with cord tethering, surgery involves removal of any anatomic structure that is acting to tether the spinal cord and may include transection of the filum, resection of transitional lipoma, lysis of adhesions, and excision of dermal sinus tracts [32]. In addition, some data suggest that fashioning a large intradural compartment, with duraplasty if needed, is associated with a reduced risk of developing arachnoid adhesions and cord retethering [20].

Indications – Although no clear consensus exists, the main indication for neurosurgery is new onset or progression of neurologic symptoms related to the CSD or tethered cord syndrome. Early neurosurgical intervention also is warranted for severe neonatal symptoms such as bowel obstruction. Additional indications for neurosurgical intervention include cases where the spinal cord is internally exposed, such as with intrasacral meningocele, to decrease the risk of infection and meningitis [20,39,40], and patients who need vertebral stabilization or pain relief [20,37,39,40]. In contrast, severely disabled patients with static deficits related to CSD are unlikely to benefit from surgery [8]. One series reported that such patients did not improve even when operated in infancy [17].

More controversial indications for surgical intervention include radiographic demonstration of a tethered cord (ie, conus medullaris lower than the L2/L3 intervertebral disc) in asymptomatic patients, or abnormal findings on urodynamic studies in a patient with CSD. The rationale for surgery in such cases is that even infants and children who are asymptomatic or mildly symptomatic may go on to develop progressive and irreversible neurologic deficits. Therefore, we suggest that all children with radiologically confirmed spinal dysraphism be referred for neurosurgical evaluation, especially if there is cord tethering, which untreated can lead to progressive neurologic deficit [2]. Conservative management with watchful monitoring is also an acceptable approach in patients who are asymptomatic or mildly symptomatic, given the highly variable natural history of CSD. (See 'Prognosis' below.)

Another controversial surgical aspect is whether untethering improves an associated syrinx. Limited evidence suggests that presence of a syrinx should not be taken into consideration when deciding on untethering surgery. A retrospective study identified 25 children over an 11-year span who had tethered cord and syrinx and had undergone detethering surgery [60]. Over an average follow-up of 8.4 years, radiologic reduction in syrinx size was inconsistent among the included patients, and change in syrinx size did not correlate with a change in clinical symptoms.

Complications – Potential complications of surgery for CSD include cerebrospinal fluid leaks, wound infection, meningitis, bladder and bowel dysfunction, and neurologic injury [32]. The rate of neurologic injury is reported to be low (<1 percent) for some types of surgery such as filum terminale transection but can be much higher with surgery for other causes of cord tethering.

Monitoring — Asymptomatic patients with CSD who do not have surgery still require close monitoring to watch for the onset of neurologic, genitourinary, or gastrointestinal symptoms, especially with respect to incontinence or constipation. Patients who have surgery for CSD should remain under close monitoring because of the risk of future worsening, which can occur with spinal cord retethering or progression of a preexisting syrinx [20,21]. The earliest indication of retethering is usually urologic symptoms [28]. In addition, non-neurological symptoms may continue to progress postoperatively, as can be seen with preexisting scoliosis and pain [21,27].

For patients who do not require surgery, close monitoring of bladder and bowel function is needed to monitor for neurogenic bladder/bowel dysfunction. Extrapolating from patients with open spina bifida, spontaneous voiding is associated with a lower risk of urinary tract infection compared with continuous intermittent catheterization (CIC) [61]. However, despite an elevated risk of urinary tract infection (up to 80 percent), early CIC and conservative management (such as anticholinergic drugs for detrusor overactivity) preserves renal function in up to 90 percent of patient [29]. (See "Myelomeningocele (spina bifida): Urinary tract complications".)

Urodynamics are generally considered to be a good monitoring tool for both nonoperative patients and postoperative patients, and particularly for early detection of cord retethering. As an example, one series of 15 patients with split spinal cord syndrome were evaluated with urodynamic studies before and after surgery [7]. While nearly all of the patients lacked preoperative urological symptoms, most (11) had abnormal preoperative urodynamic findings. In addition, patients who deteriorated after surgery had worsening on urodynamic studies prior to progression of other symptoms.

Prevention — Managing risk factors in pregnancy should be instituted for all expecting mothers. (See "Closed spinal dysraphism: Pathogenesis and types", section on 'Risk factors'.)

In addition, preliminary data suggest that supplementation with myo-inositol may reduce the risk of recurrence in cases unresponsive to folic acid [62].

PROGNOSIS — The natural history of closed (occult) spinal dysraphism (CSD) is poorly studied. Reported outcomes are highly variable, and likely depend on the severity of the deficits at presentation as well as the nature and extent of the anomaly [2,20,63]. With watchful observation and conservative management, some patients remain stable for years [8], spontaneously improve [63], or have radiologic regression of spinal lipomas [64]. While some reports suggest that neurologic deterioration occurs in up to 75 percent of patients with tethered cord syndrome [65], others have found a much lower rate. As an example, one retrospective study reported 53 children with asymptomatic lipomas of the conus who were monitored during conservative management. Over a mean follow-up period of 4.4 years, neurologic deterioration was observed in 13 patients (25 percent) [66].

Estimates of long-term outcomes following neurosurgery for CSD are based mainly upon evidence from uncontrolled, retrospective, single-center case series. These data suggest that neurosurgery for CSD, most often release of a tethered cord, is associated with some degree of improvement in 33 to 90 percent of patients, and complete resolution of symptoms in occasional cases [9,20,35,67-70]. On the other hand, postoperative worsening has been reported in up to 13 percent of patients [9]. The inconsistency in reported outcomes is likely related to substantial differences among surgical studies with regard to types of patients (eg, children or adults with a range of spinal anomalies and symptoms), neurosurgical techniques, outcome assessments, and multiple other uncontrolled variables. Some studies suggest that patients with recent onset of symptoms tend to have a more complete resolution while those with long-standing symptoms tend to are less likely to exhibit meaningful improvement [8,26].

Patients who undergo surgery for tethered cord need continued follow-up (see 'Monitoring' above) because of the risk of postsurgical retethering [2,20,22]. This risk is related in part to the type of CSD associated with the initial tethering, and is considered to be higher with a split cord malformation or a transitional lipoma than with a thickened filum or lipomatous infiltration [32].

Finally, perception of disability in patients living with spina bifida has a direct bearing on their well-being. A qualitative study from South Africa looking at adolescents and their caregivers identified several positive promoters of well-being: family support, social support, special needs education, sports participation, independence, and "finding meaning in life" [71]. It also identified negative physical factors, including lack of resources, lack of access to medical care, and mobility challenges; and negative social factors, including bullying, harmful friendships, shame, secrecy, social isolation, and overall unhappiness.

SOCIETY GUIDELINE LINKS — Links to society and government-sponsored guidelines from selected countries and regions around the world are provided separately. (See "Society guideline links: Congenital malformations of the central nervous system".)

SUMMARY AND RECOMMENDATIONS

The clinical manifestations of closed (occult) spinal dysraphism (CSD) vary widely and range from benign or asymptomatic to severe neurologic, genitourinary, gastrointestinal, or musculoskeletal anomalies. Common manifestations include tethered cord syndrome, cutaneous lesions, and presence of a subcutaneous back mass. (See 'Clinical manifestations' above.)

A number of sacrococcygeal cutaneous lesions are associated with CSD (table 1), including dermal sinus tracts, dimples or pits, hypertrichosis, hyperkeratosis, areas of hyperpigmentation or hypopigmentation, hemangiomas, capillary malformations (port wine stains), subcutaneous lipomas, caudal appendages (true tail or pseudotail), and isolated deviation of the intergluteal cleft. (See 'Cutaneous' above.)

The neurologic manifestations in patients with CSD are highly variable. The tethered cord syndrome can be a presentation of several forms of CSD. The constellation of symptoms variably associated with the tethered cord syndrome includes back pain, bladder dysfunction, leg weakness, calf muscle atrophy, diminished or absent deep tendon reflexes, and dermatomal sensory loss. Orthopedic signs include progressive scoliosis and various foot deformities. (See 'Neurologic' above and 'Tethered cord syndrome' above.)

Closed spinal dysraphism is sometimes associated with neurogenic bladder dysfunction, with or without tethered cord syndrome. However, the true prevalence of urologic involvement with CSD is unknown, and the diagnosis of bladder dysfunction is often delayed, particularly for pretoilet trained children. (See 'Urologic' above.)

The diagnosis of CSD is suggested by the typical associated clinical findings (see 'Clinical manifestations' above), particularly the presence of cutaneous stigmata, a subcutaneous mass in the back, or neurologic symptoms consistent with the tethered cord syndrome. The diagnosis is confirmed by radiologic demonstration of a spinal dysraphic lesion. (See 'Evaluation and diagnosis' above.)

We recommend evaluation with MRI of the entire spine for infants and children who have two or more cutaneous lumbosacral spine lesions, a subcutaneous back mass, or neurologic symptoms suggestive of tethered cord syndrome. We suggest MRI of the spine for neurologically asymptomatic infants and children who have an isolated midline cutaneous lumbosacral spine lesion that is potentially high-risk for the development of CSD. These cutaneous lesions include atypical dimples (those >5 mm in size or located >2.5 cm from the anus), hemangiomas, cutis aplasia, and upraised lesions (ie, masses, tails, and hairy patches). (See 'Evaluation and diagnosis' above and 'Imaging' above.)

Surgery is considered the mainstay of treatment for CSD, although there are no data from randomized controlled trials to support or refute the efficacy of surgery. We suggest referring all children with radiologically confirmed spinal dysraphism for neurosurgical evaluation, especially if there is cord tethering. Conservative management with watchful monitoring is also an acceptable approach in patients who are asymptomatic or mildly symptomatic, given the highly variable natural history of CSD. In CSD cases associated with cord tethering, surgery involves removal of any anatomic structure that is acting to tether the spinal cord. Surgical fashioning of a large intradural compartment, with duraplasty if needed, may reduce the risk of cord retethering. Potential complications of surgery for CSD include cerebrospinal fluid leaks, wound infection, meningitis, bladder and bowel dysfunction, and neurologic injury. (See 'Surgery' above.)

The natural history of CSD is poorly studied. Reported outcomes are highly variable, and likely depend on the severity of the deficits at presentation as well as the nature and extent of the anomaly. Estimates of long-term outcomes following neurosurgery for CSD are based mainly upon evidence from uncontrolled, retrospective, single-center case series. (See 'Prognosis' above.)

  1. Avagliano L, Massa V, George TM, et al. Overview on neural tube defects: From development to physical characteristics. Birth Defects Res 2019; 111:1455.
  2. Lynch SA, Wang Y, Strachan T, et al. Autosomal dominant sacral agenesis: Currarino syndrome. J Med Genet 2000; 37:561.
  3. Weprin BE, Oakes WJ. Occult spinal dysraphism: The clinical presentation and diagnosis. Oper Tech Plast Reconstr Surg 2000; 7:39.
  4. Nabizadeh N, Dimar JR. Congenital spine deformities: timing of insult during development of the spine in utero. Spine Deform 2022; 10:31.
  5. Soonawala N, Overweg-Plandsoen WC, Brouwer OF. Early clinical signs and symptoms in occult spinal dysraphism: a retrospective case study of 47 patients. Clin Neurol Neurosurg 1999; 101:11.
  6. Dias M, Partington M, SECTION ON NEUROLOGIC SURGERY. Congenital Brain and Spinal Cord Malformations and Their Associated Cutaneous Markers. Pediatrics 2015; 136:e1105.
  7. Proctor MR, Bauer SB, Scott RM. The effect of surgery for split spinal cord malformation on neurologic and urologic function. Pediatr Neurosurg 2000; 32:13.
  8. Schijman E. Split spinal cord malformations: report of 22 cases and review of the literature. Childs Nerv Syst 2003; 19:96.
  9. Tu A, Steinbok P. Occult tethered cord syndrome: a review. Childs Nerv Syst 2013; 29:1635.
  10. Son HS, Kim JH. Urological presentations of adult primary tethered cord syndrome. Neurourol Urodyn 2020; 39:633.
  11. Sattar MT, Bannister CM, Turnbull IW. Occult spinal dysraphism--the common combination of lesions and the clinical manifestations in 50 patients. Eur J Pediatr Surg 1996; 6 Suppl 1:10.
  12. Hall DE, Udvarhelyi GB, Altman J. Lumbosacral skin lesions as markers of occult spinal dysraphism. JAMA 1981; 246:2606.
  13. Tavafoghi V, Ghandchi A, Hambrick GW Jr, Udverhelyi GB. Cutaneous signs of spinal dysraphism. Report of a patient with a tail-like lipoma and review of 200 cases in the literature. Arch Dermatol 1978; 114:573.
  14. Malelak EB, Lauren C, Argie D, Nugraheni T. Congenital Midline Spinal Hamartoma in a 5-Month-Old Infant. World Neurosurg 2021; 145:142.
  15. Venkataramana NK. Spinal dysraphism. J Pediatr Neurosci 2011; 6:S31.
  16. Drolet BA, Chamlin SL, Garzon MC, et al. Prospective study of spinal anomalies in children with infantile hemangiomas of the lumbosacral skin. J Pediatr 2010; 157:789.
  17. Yamada S, Knerium DS, Mandybur GM, et al. Pathophysiology of tethered cord syndrome and other complex factors. Neurol Res 2004; 26:722.
  18. Kim CH, Bak KH, Kim JM, Kim NK. Symptomatic sacral extradural arachnoid cyst associated with lumbar intradural arachnoid cyst. Clin Neurol Neurosurg 1999; 101:148.
  19. Bollini G, Cottalorda J, Jouve JL, et al. [Closed spinal dysraphism]. Ann Pediatr (Paris) 1993; 40:197.
  20. Pierre-Kahn A, Zerah M, Renier D, et al. Congenital lumbosacral lipomas. Childs Nerv Syst 1997; 13:298.
  21. Ackerman LL, Menezes AH, Follett KA. Cervical and thoracic dermal sinus tracts. A case series and review of the literature. Pediatr Neurosurg 2002; 37:137.
  22. Sakho Y, Badiane SB, Kabre A, et al. [Lumbosacral intraspinal lipomas associated or not with a tethered cord syndrome (series of 8 cases)]. Dakar Med 1998; 43:13.
  23. Tortori-Donati P, Rossi A, Cama A. Spinal dysraphism: a review of neuroradiological features with embryological correlations and proposal for a new classification. Neuroradiology 2000; 42:471.
  24. Drake JM. Occult tethered cord syndrome: not an indication for surgery. J Neurosurg 2006; 104:305.
  25. Hertzler DA 2nd, DePowell JJ, Stevenson CB, Mangano FT. Tethered cord syndrome: a review of the literature from embryology to adult presentation. Neurosurg Focus 2010; 29:E1.
  26. Yamada S, Won DJ, Siddiqi J, Yamada SM. Tethered cord syndrome: overview of diagnosis and treatment. Neurol Res 2004; 26:719.
  27. Yamada S, Lonser RR. Adult tethered cord syndrome. J Spinal Disord 2000; 13:319.
  28. Michelson DJ, Ashwal S. Tethered cord syndrome in childhood: diagnostic features and relationship to congenital anomalies. Neurol Res 2004; 26:745.
  29. Stein R, Bogaert G, Dogan HS, et al. EAU/ESPU guidelines on the management of neurogenic bladder in children and adolescent part I diagnostics and conservative treatment. Neurourol Urodyn 2020; 39:45.
  30. Johnston LB, Borzyskowski M. Bladder dysfunction and neurological disability at presentation in closed spina bifida. Arch Dis Child 1998; 79:33.
  31. Segal LS, Czoch W, Hennrikus WL, et al. The spectrum of musculoskeletal problems in lipomyelomeningocele. J Child Orthop 2013; 7:513.
  32. Cardoso M, Keating RF. Neurosurgical management of spinal dysraphism and neurogenic scoliosis. Spine (Phila Pa 1976) 2009; 34:1775.
  33. Hilal SK, Marton D, Pollack E. Diastematomyelia in children. Radiographic study of 34 cases. Radiology 1974; 112:609.
  34. Kang S, Park H, Hong J. Clinical and Radiologic Characteristics of Caudal Regression Syndrome in a 3-Year-Old Boy: Lessons from Overlooked Plain Radiographs. Pediatr Gastroenterol Hepatol Nutr 2021; 24:238.
  35. Valentini LG, Selvaggio G, Erbetta A, et al. Occult spinal dysraphism: lessons learned by retrospective analysis of 149 surgical cases about natural history, surgical indications, urodynamic testing, and intraoperative neurophysiological monitoring. Childs Nerv Syst 2013; 29:1657.
  36. Golonka NR, Haga LJ, Keating RP, et al. Routine MRI evaluation of low imperforate anus reveals unexpected high incidence of tethered spinal cord. J Pediatr Surg 2002; 37:966.
  37. Mishra GP, Sharma RR, Lad SD, et al. Gluteal neuralgia - unusual presentation in an adult with intrasacral meningocele: a case report and review of literature. Neurol India 2000; 48:279.
  38. Diel J, Ortiz O, Losada RA, et al. The sacrum: pathologic spectrum, multimodality imaging, and subspecialty approach. Radiographics 2001; 21:83.
  39. Ilhan H, Tokar B, Atasoy MA, Kulali A. Diagnostic steps and staged operative approach in Currarino's triad: a case report and review of the literature. Childs Nerv Syst 2000; 16:522.
  40. Muthukumar N. The "human tail": a rare cause of tethered cord: a case report. Spine (Phila Pa 1976) 2004; 29:E476.
  41. Guggisberg D, Hadj-Rabia S, Viney C, et al. Skin markers of occult spinal dysraphism in children: a review of 54 cases. Arch Dermatol 2004; 140:1109.
  42. Kriss VM, Desai NS. Occult spinal dysraphism in neonates: assessment of high-risk cutaneous stigmata on sonography. AJR Am J Roentgenol 1998; 171:1687.
  43. Sewell MJ, Chiu YE, Drolet BA. Neural tube dysraphism: review of cutaneous markers and imaging. Pediatr Dermatol 2015; 32:161.
  44. Drolet BA, Boudreau C. When good is not good enough: the predictive value of cutaneous lesions of the lumbosacral region for occult spinal dysraphism. Arch Dermatol 2004; 140:1153.
  45. Goldberg NS, Hebert AA, Esterly NB. Sacral hemangiomas and multiple congenital abnormalities. Arch Dermatol 1986; 122:684.
  46. Gomi A, Oguma H, Furukawa R. Sacrococcygeal dimple: new classification and relationship with spinal lesions. Childs Nerv Syst 2013; 29:1641.
  47. Caldarelli M, Di Rocco C. Diagnosis of Chiari I malformation and related syringomyelia: radiological and neurophysiological studies. Childs Nerv Syst 2004; 20:332.
  48. Wilson DA, Prince JR. John Caffey award. MR imaging determination of the location of the normal conus medullaris throughout childhood. AJR Am J Roentgenol 1989; 152:1029.
  49. Barson AJ. The vertebral level of termination of the spinal cord during normal and abnormal development. J Anat 1970; 106:489.
  50. Khoury AE, Hendrick EB, McLorie GA, et al. Occult spinal dysraphism: clinical and urodynamic outcome after division of the filum terminale. J Urol 1990; 144:426.
  51. Wehby MC, O'Hollaren PS, Abtin K, et al. Occult tight filum terminale syndrome: results of surgical untethering. Pediatr Neurosurg 2004; 40:51.
  52. Masini L, De Luca C, Noia G, et al. Prenatal diagnosis, natural history, postnatal treatment and outcome of 222 cases of spina bifida: experience of a tertiary center. Ultrasound Obstet Gynecol 2019; 53:302.
  53. Milani HJF, Barreto EQS, Chau H, et al. Prenatal diagnosis of closed spina bifida: multicenter case series and review of the literature. J Matern Fetal Neonatal Med 2020; 33:736.
  54. Huang YS, Lussier EC, Olisova K, et al. Prenatal ultrasound diagnosis of neural tube defects in the era of intrauterine repair - Eleven years' experiences. Taiwan J Obstet Gynecol 2021; 60:281.
  55. Cengizler Ç, Ün MK, Büyükkurt S. A Nature-Inspired Search Space Reduction Technique for Spine Identification on Ultrasound Samples of Spina Bifida Cases. Sci Rep 2020; 10:9280.
  56. Cengizler C, Kerem Ün M, Buyukkurt S. A novel evolutionary method for spine detection in ultrasound samples of spina bifida cases. Comput Methods Programs Biomed 2021; 198:105787.
  57. Lavallée LT, Leonard MP, Dubois C, Guerra LA. Urodynamic testing--is it a useful tool in the management of children with cutaneous stigmata of occult spinal dysraphism? J Urol 2013; 189:678.
  58. Gasmi A, Perrouin-Verbe MA, Hascoet J, et al. Long-term outcomes of artificial urinary sphincter in female patients with spina bifida. Neurourol Urodyn 2021; 40:412.
  59. Szymanski KM, Misseri R, Whittam B, et al. Additional Surgeries after Bladder Augmentation in Patients with Spina Bifida in the 21st Century. J Urol 2020; 203:1207.
  60. Bruzek AK, Starr J, Garton HJL, et al. Syringomyelia in children with closed spinal dysraphism: long-term outcomes after surgical intervention. J Neurosurg Pediatr 2019; :1.
  61. Kaye IY, Payan M, Vemulakonda VM. Association between clean intermittent catheterization and urinary tract infection in infants and toddlers with spina bifida. J Pediatr Urol 2016; 12:284.e1.
  62. D'Souza SW, Copp AJ, Greene NDE, Glazier JD. Maternal Inositol Status and Neural Tube Defects: A Role for the Human Yolk Sac in Embryonic Inositol Delivery? Adv Nutr 2021; 12:212.
  63. Guillen A, Costa JM. Spontaneous resolution of a Chiari I malformation associated syringomyelia in one child. Acta Neurochir (Wien) 2004; 146:187.
  64. Kulkarni AV, Pierre-Kahn A, Zerah M. Spontaneous regression of congenital spinal lipomas of the conus medullaris. Report of two cases. J Neurosurg 2004; 101:226.
  65. Valentini LG, Selvaggio G, Visintini S, et al. Tethered cord: natural history, surgical outcome and risk for Chiari malformation 1 (CM1): a review of 110 detethering. Neurol Sci 2011; 32 Suppl 3:S353.
  66. Kulkarni AV, Pierre-Kahn A, Zerah M. Conservative management of asymptomatic spinal lipomas of the conus. Neurosurgery 2004; 54:868.
  67. Royo-Salvador MB, Solé-Llenas J, Doménech JM, González-Adrio R. Results of the section of the filum terminale in 20 patients with syringomyelia, scoliosis and Chiari malformation. Acta Neurochir (Wien) 2005; 147:515.
  68. Veenboer PW, Bosch JL, van Asbeck FW, de Kort LM. Paucity of evidence for urinary tract outcomes in closed spinal dysraphism: a systematic review. BJU Int 2013; 112:1009.
  69. Steinbok P, Kariyattil R, MacNeily AE. Comparison of section of filum terminale and non-neurosurgical management for urinary incontinence in patients with normal conus position and possible occult tethered cord syndrome. Neurosurgery 2007; 61:550.
  70. Aufschnaiter K, Fellner F, Wurm G. Surgery in adult onset tethered cord syndrome (ATCS): review of literature on occasion of an exceptional case. Neurosurg Rev 2008; 31:371.
  71. Page DT, Coetzee BJ. South African adolescents living with spina bifida: contributors and hindrances to well-being. Disabil Rehabil 2021; 43:920.
Topic 93935 Version 14.0

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