Sacral Dimples PDF - A Nervous System Article

Article nervous system Sacral Dimples Holly A. Zywicke, MD,* Objectives After completing this article, readers should be able to: Curtis J. Rozzelle, MD†...

Article nervous system Sacral Dimples Holly A. Zywicke, MD,* Objectives After completing this article, readers should be able to: Curtis J. Rozzelle, MD† 1. Explain the difference between open and closed neural tube defects. 2. Describe the characteristics of spinal skin dimples that warrant further evaluation. Author Disclosure 3. Describe the characteristics of spinal skin dimples that do not warrant further Drs Zywicke and evaluation. Rozzelle have 4. Discuss the evaluation of spinal skin dimples and name the findings that suggest disclosed no financial occult spinal dysraphism. relationships relevant 5. Discuss the neurosurgical treatment of occult spinal dysraphism. to this article. This 6. Explain the natural history and clinical manifestations of occult spinal dysraphism. commentary does not contain a discussion of an unapproved/ Definitions Neural tube defects are among the most common forms of birth defect, affecting 1 in every investigative use of a 1,000 pregnancies. (1)(2) These defects, which result from abnormal fusion of the neural commercial tube during embryonic development, are placed into two broad categories: open and product/device. closed. Open neural tube defects are lesions in which brain, spinal cord, or spinal nerves are exposed through obvious defects of the meninges and skull or vertebral column. Examples are anencephaly, myelomeningocele, and meningocele. Closed neural tube defects are skin-covered lesions under which the nervous system structures have not formed normally. These include split cord malformation, dermal sinus tract, tethered spinal cord, and intraspinal lipoma (Table). Spina bifida is an imprecise term often used to describe a variety of congenital spinal anomalies that range in consequence from insignificant to severe. Spina bifida occulta (SBO) is a radiographic finding that describes incomplete osseous fusion of the posterior elements. It may occur in conjunction with a cutaneous abnormality but is clinically benign and is considered a normal variant. (3) Occult spinal dysraphisms (OSDs) are much less common than SBO and encompass a variety of skin-covered neural tube defects. Because the neural structures are affected, however, neurologic impairment is common. Most forms of OSD have an associated overlying cutaneous abnormality. Most open neural tube defects are diagnosed prenatally with ultrasonography and serum marker concentrations. Those defects not identified before delivery are apparent at birth. An OSD, on the other hand, is less obvious and may not be diagnosed until later in life, despite its presence at birth. The occult nature can be problematic because the clinical impairments associated with closed neural tube defects, which include paresis, spasticity, sensory disturbance, orthopedic deformity or contracture, and bowel and bladder dysfunc- tion, often progress insidiously over time. Diagnosis More than 50% of OSDs are diagnosed when a dimple (Fig. 1) is noted in the lower spine/sacral region. Although the natural history of OSD is not fully understood, early diagnosis and intervention are believed to improve outcome in almost all cases. (4) Hence, the recognition of a suspicious skin dimple and identification of underlying anomalies with prompt radiographic evaluation and neurosurgical referral is crucial. However, not all dimples are associated with an OSD. Distinguishing between cutaneous stigmata associ- *Division of Pediatric Neurosurgery, Department of Surgery, University of Alabama at Birmingham and Children’s Hospital of Alabama, Birmingham, AL. † Assistant Professor, Department of Surgery, Division of Pediatric Neurosurgery, University of Alabama at Birmingham and Children’s Hospital of Alabama, Birmingham, AL. Pediatrics in Review Vol.32 No.3 March 2011 109 Downloaded from http://publications.aap.org/pediatricsinreview/article-pdf/32/3/109/1104253/zpx00311000109.pdf by Univ Of South Alabama user  nervous system sacral dimples Table. Definitions Open Neural Tube Defects Anencephaly An exposed rudimentary brainstem due to failed closure of the cephalic portion of the neural tube. Myelomeningocele Herniation of the spinal cord through an unfused portion of the spinal column. Meningocele Protrusion of the meninges through a spinal column opening. Closed Neural Tube Defects Split Cord Malformation Diastematomyelia Division of the spinal cord into two parts that are usually separated by bone or cartilage. Dermal Sinus TractⴞInclusion Tumor Incomplete dysjunction (separation of the cutaneous ectoderm and neuroectoderm), resulting in an epithelial-lined tract that terminates in neural structures. Tethered Spinal Cord Abnormal attachment of the lower end of the spinal cord to surrounding structures. Lipomyelomeningocele or Spinal Cord Lipoma Premature dysjunction allows mesodermal infiltration between cutaneous ectoderm and neuroectoderm, resulting in a tethered spinal cord attached to a benign fatty tumor in the back. ated with OSD and innocent skin dimples can be difficult association with milder forms of OSD and warrant fur- and may lead to costly and unnecessary tests or referrals. ther evaluation. Therefore, a deviated or duplicated (5) Therefore, the focus of this review is to provide (“split”) gluteal cleft (Fig. 3) should raise concern for information on how to identify skin dimples that require OSD, whether or not a dimple is present. The manage- further evaluation, what method of evaluation should be ment of a “dimple” alone, however, demands greater used, and when to refer to a specialist. diagnostic acumen because some dimples over the spine Most cutaneous stigmata associated with OSD are represent dermal sinus tracts, although most do not. found in the midline overlying the spinal lesion. A find- Dermal sinus tracts are not classified as open neural tube ing of hypertrichosis, capillary hemangioma, atretic me- defects because characteristically they do not feature ningocele, subcutaneous mass (eg, lipoma), or a caudal overt meningeal, osseous, and cutaneous defects (despite appendage (Fig. 2) requires further investigation. Glu- potential communication between the skin and nervous teal cleft anomalies other than dimples also have a weak elements). These skin-covered lesions are marked simi- larly to other OSDs with overlying dimples or other cutaneous stigmata. (6) Clinical findings do not predict with certainty which dimples are associated with OSD. However, the follow- ing criteria have been found to differentiate best between dimples that require further evaluation and those that require only routine follow-up evaluation: multiple dim- ples, dimple diameter larger than 5 mm, location greater than 2.5 cm above the anal verge, and association of the dimple with other cutaneous markers. Review of the literature shows that 2% to 4% of all children have a dimple identified in the sacrococcygeal region, but only seven cases have ever been found to be associated with an OSD. (7) For those patients in whom a coccygeal dimple was found in conjunction with an OSD, most had more Figure 1. Solitary dimple whose location greater than 2.5 mm than one dimple. Notably, the second dimple often was above the anus indicated the need for further evaluation, found more rostrally along the spine (ie, cervical, tho- which revealed an occult spinal dysraphism requiring neuro- racic, or lumbar). Hence, clinical examination should surgical intervention. seek to identify dimple location and the number present. 110 Pediatrics in Review Vol.32 No.3 March 2011 Downloaded from http://publications.aap.org/pediatricsinreview/article-pdf/32/3/109/1104253/zpx00311000109.pdf by Univ Of South Alabama user  nervous system sacral dimples Figure 3. A duplicated gluteal cleft associated with occult spinal dysraphism. pediatrician must perform a careful physical examination, with particular attention to the neurologic and ortho- pedic aspects. Associated orthopedic findings can include clubfeet, arthrogryposis (contracture of multiple joints leading to fixation of the joints in extension or flexion) of the lower extremities, and hip dislocation. Abnormal cur- vature of the spine, including kyphosis or scoliosis, also may be present. Abnormal neurologic or orthopedic examination findings indicate the need for further eval- uation. Management When detailed history and physical examination raise the Figure 2. Cutaneous lesions. Skin dimples are often the cu- clinical suspicion for OSD, radiographic imaging should taneous marking found with occult spinal dysraphism. How- ever, multiple other markings can signify underlying spinal be obtained (Fig. 7). Either ultrasonography or magnetic element malformation, including caudal appendage (A) and resonance imaging (MRI) can be employed to evaluate hypertrichosis (B). Solitary sacrococcygeal pits located entirely within the gluteal cleft (Fig. 4) have no clinical significance and should be considered anatomic variations of normal. Typically, the coccyx is palpable beneath the dimple and intact skin can be seen at the base (Fig. 5). If there is difficulty discerning whether the lesion is covered com- pletely by skin, otoscopic examination of the dimple often can determine if there is a bottom to the pit. Although most lesions occur in the midline, eccentric lesions (Fig. 6) are not in themselves abnormal unless occurring in conjunction with other lesions or outside the sacral spine. No radiographic evaluation or neuro- surgical consultation is required; parental reassurance is Figure 4. A prototypical benign sacral dimple that is located the only intervention necessary. within the gluteal cleft (less than 2.5 cm above the anus) and In addition to a thorough inspection of the skin, the solitary. Pediatrics in Review Vol.32 No.3 March 2011 111 Downloaded from http://publications.aap.org/pediatricsinreview/article-pdf/32/3/109/1104253/zpx00311000109.pdf by Univ Of South Alabama user  nervous system sacral dimples Figure 5. Solitary sacrococcygeal dimple that demonstrates complete covering with skin over the entire dimpled area when the skin is stretched laterally and, therefore, is not an occult spinal dysraphism-associated lesion. OSD. Ultrasonography of the lumbosacral spine gener- ally is useful only in children younger than 3 months of age because ossification of the vertebral arches has not yet occurred. (8) However, the decision to use ultra- sonography versus MRI (for children of any age) as first- line imaging appears somewhat institution-dependent. In Figure 6. A right eccentric dimple that occurs outside of the one study of a pediatric population who had sacrococcy- midline but does not carry a high degree of suspicion for an geal cutaneous lesions, a discordance rate of 17% be- occult spinal dysraphism because it is an isolated sacrococcy- tween ultrasonography and MRI studies was found in geal lesion. which ultrasonography suggested an OSD while MRI yielded normal results. (9) Pediatricians, therefore, hallmark of dermal sinus tracts that predispose the pa- should be aware of the possible discrepancy in findings tient to bacterial meningitis or intraspinal abscess. (10) with these imaging modalities and know which study is Surgical intervention is aimed at untethering the spinal most appropriate at their respective institutions. cord and removing abnormal tissue, when present. Spinal ultrasonography can assess the level of the conus medullaris, the diameter and echogenicity of the Prognosis filum terminale, and the position and movement pattern Almost all neurosurgical referrals for suspected OSD in of the spinal cord and nerve roots. Abnormal findings can children younger than 1 year of age are for evaluation include a low-lying conus, in which the tip is below the of a dimple. Although the natural history of OSD is level of the second lumbar vertebral body; a filum termi- somewhat unpredictable, the overall risk of neurologic nale diameter greater than 2 mm; and a posteriorly compromise increases with time. Neurologic deficits can positioned or nonmobile cord, which can indicate teth- be difficult to identify in young children because the ering. If ultrasonographic findings are abnormal, MRI of onset of dysfunction is generally insidious and occurs the spine is indicated. Findings on MRI vary, based on about the same time as expected neurologic function the type of OSD present. In general, MRI is more reliable development (eg, crawling, walking, standing). Accord- and exact in diagnosing OSD. ingly, OSD deficits may be mistaken for delayed accrue- Neurosurgical referral is appropriate if radiographic ment of normal function, and irreversible damage may evaluation reveals any spinal abnormality. Consideration occur before symptomatic manifestation. The reasons for for early referral (before imaging) is appropriate for dim- neurosurgical referral for children older than 1 year of ples superior to the gluteal cleft, especially if any dis- age suspected of having OSD include chronic urinary charge is observed or reported. Such dimples are the tract infections, lower limb deformity (eg, foot drop, 112 Pediatrics in Review Vol.32 No.3 March 2011 Downloaded from http://publications.aap.org/pediatricsinreview/article-pdf/32/3/109/1104253/zpx00311000109.pdf by Univ Of South Alabama user  nervous system sacral dimples aging and neurosurgical referral. (11) Optimal outcome is most likely with early diagnosis and surgical interven- tion. Summary Spinal skin dimples and other cutaneous markings located outside of the sacrococcygeal region are associated most often with closed neural tube defects or OSD. The presence of more than one skin dimple anywhere along the neural axis is an indicator of the likely presence of OSD. The neurologic deficits associated with OSD are progressive and frequently not detected until permanent dysfunction has been sustained when diagnosed later in life. Early neurosurgical intervention is believed to prevent or halt progression of neurologic deficits due to spinal cord tethering. References 1. Wiswell TE, Tuttle DJ, Northam RS, Simonds GR. Major Figure 7. An algorithm for evaluation of dimples overlying congenital neurologic malformations. A 17-year survey. Am J Dis the neural axis. MRIⴝmagnetic resonance imaging Child. 1990;144:61– 67 2. Williams LJ, Rasmussen SA, Flores A, Kirby RS, Edmonds LD. Decline in the prevalence of spina bifida and anencephaly by race/ weakness or atrophy in a lower extremity, talipes equino- ethnicity: 1995–2002. Pediatrics. 2005;116:580 –586 varus, or dragging one foot), bowel/bladder dysfunc- 3. Boone D, Parsons D, Lachmann SM, Sherwood T. Spina bifida tion, pain, and lower extremity spasticity or paresis. occulta: lesion or anomaly? Clin Radiol. 1985;36:159 –161 However, careful inspection of this population often 4. Soonawala N, Overweg-Plandsoen WCG, Brouwer OF. Early reveals subtle cutaneous stigmata. Therefore, it is impor- clinical signs and symptoms in occult spinal dysraphism: a retrospec- tive case study of 47 patients. Clin Neurol Neurosurg. 1999;101: tant for the pediatrician to be vigilant in searching for 11–14 midline skin anomalies. Even as common a condition as 5. Medina LS, Crone K, Kuntz KM. Newborns with suspected primary nocturnal enuresis warrants careful examination occult spinal dysraphism: a cost-effectiveness analysis of diagnostic for midline skin anomalies. strategies. Pediatrics. 2001;108:e101– e108 6. Ackerman LL, Menezes AH. Spinal congenital dermal sinuses: a 30-year experience. Pediatrics. 2003;112:641– 647 Conclusion 7. Weprin BE, Oakes WJ. Coccygeal pits. Pediatrics. 2000;105: Early diagnosis of OSD often comes from identification e69 – e73 of spinal skin dimples. Recognition of suspicious lesions 8. Szyszko TA, Watson M. The value of ultrasonographic exami- is important to reduce the risk of neurologic, urologic, nation of the lumbar spine in infants with specific reference to and orthopedic dysfunction. During examination, the cutaneous markers of occult spinal dysraphism. Clin Radiol. 2005; 60:935 pediatrician should not only look for dimples along the 9. Sasani M, Asghari B, Asghari Y, Afsharian R, Ozer AF. Correla- spine but also for other markings such as abnormal tion of cutaneous lesions with clinical radiological and urodynamic hair growth, asymmetric gluteal creases, dermal sinuses/ findings in the prognosis of underlying spinal dysraphism disorders. dimples/pits, hyper- or hypopigmentation, capillary Pediatr Neurosrg. 2008;44:360 –370 hemangiomas, skin tags, and subcutaneous fatty masses 10. Bhatia S, Gullu MS, Date NB, Muzumdar D, Muranjan MN, Lahiri KR. Anterior sacral pyocele with meningitis: a rare presenta- that are associated with OSDs. Any lesion along the spine tion of occult spinal dysraphism with congenital dermal sinus. outside of the sacrococcygeal region or identification of J Child Neurol. 2010;25:1393–1397 more than one skin marking anywhere along the spine 11. Hall DE, Udvarhelyi GB, Altman J. Lumbosacral skin lesions warrants further evaluation, including radiographic im- as markers of occult spinal dysraphism. JAMA. 1981;246:2606 Pediatrics in Review Vol.32 No.3 March 2011 113 Downloaded from http://publications.aap.org/pediatricsinreview/article-pdf/32/3/109/1104253/zpx00311000109.pdf by Univ Of South Alabama user  nervous system sacral dimples PIR Quiz Quiz also available online at http://pedsinreview.aappublications.org. 11. Which of the following is the best example of an open neural tube defect? A. Anencephaly. B. Dermal sinus tract. C. Diastematomyelia. D. Spinal cord lipoma. E. Tethered spinal cord. 12. Among the following, the child most likely to benefit from early referral to a neurosurgeon is: A. 1-month-old who has an eccentric sacral dimple. B. 1-week-old who has a solitary sacrococcygeal pit. C. 2-month-old who has a sacrococcygeal dimple. D. 3-month-old who has a dimple superior to the gluteal cleft with discharge. E. 3-week-old who has a palpable coccyx beneath the dimple. 13. An 8-month-old girl presents to your clinic with multiple dimples superior to the gluteal cleft, and you suspect OSD. Among the following, the most appropriate next step in her evaluation is: A. Computed tomography scan of the spine. B. Lumbar puncture. C. Magnetic resonance imaging of the spine. D. Ultrasonography of the spine. E. Radiographs of the spinal column. 14. A father brings his 6-year-old son to you for evaluation of nocturnal enuresis and occasional daytime wetting. On physical examination, you note a sacral dimple. Among the following, the feature most concerning for OSD is: A. Eccentric sacral location of the dimple. B. History of one urinary tract infection. C. Hypertrophy of one foot. D. Spasticity of the lower extremities. E. Truncal hypotonia. 15. Of the following, the feature that best distinguishes a dimple associated with OSD is: A. Cutaneous marker associated with the dimple. B. Greater than 3 mm maximal dimension. C. Location greater than 1 cm above the anus. D. Sacrococcygeal location. E. Single dimple. 114 Pediatrics in Review Vol.32 No.3 March 2011 Downloaded from http://publications.aap.org/pediatricsinreview/article-pdf/32/3/109/1104253/zpx00311000109.pdf by Univ Of South Alabama user