1. Shawn Werner, MD ATC 11.29.2012

2.  Aristotle first described Anorectal Malfromations (ARM)  Soranus treated in 2 nd century CE  Amussat: proctoplasty, 1835  Mid-1900s to 1980s: puborectalis ring  DeVries and Pena  Posterior sagittal anorectoplasty, 1982  Georgeson  Laparoscopic approach, 2000

3.  Abnormality of Hindgut  Descending colon, rectum, upper anal canal, lining of bladder, urethra  5-10% incidence in genetic dz  Trisomy 21 and 22q11.2 http://www.duke.edu/web/anatomy/embryology/GI/GI.html

4.  1:4000-5000 live births  High association with other congenital anomalies  Males > Females  High vs Low lesion http://www.ajronline.org

5.  Urogenital: 81%  Spinal dysraphism  VACTERL  Vertebral: 33-50% ▪ Tethered cord: 20-30% ▪ Sacral agenesis ▪ Spina bifida ▪ hemivertebrae  duodenal Atresia:  Cardiac: 10-30% ▪ ASD & VSD  Tracheoesophageal: 5-10%  Rectal  Limb malformation http://radiopaedia.org/articles/hemivertebra

6.  Prevention  Halt progression  Reverse symptoms

7.  Spinal cord below L2  Filum terminale diffusely thickened  Cord fixed by spinal lipoma  Can be asymptomatic

8.  Asymptomatic  Deterioration in gait  Spasticity  Weakness  Back pain  Incontinence  Limb deformities

9.  Debate on imaging: XR, US, MRI  Cost-effectiveness  Availability of resources  Risk to the patient  Indications of preventative surgery

10.  Abn sacral anatomy  abn cord BUT  Normal sacral anatomy  Plain radiograph 80% sens., 18% spec.  Better imaging modalities  Technology is beautiful Abnormal cord Normal cord

11.  Relatively cheap  Best test for neonates  US 86.5% sensitive, 92.9% specific

12.  Level and type of ARM  Fistula location  Sphincter complex  Spinal anomalies  MRI 95.6% sensitive, 90.9% specific  Increased cost  Requires sedation

13.  3 risk groups  Low: simple skin dimple, DM mother  Intermed: complex skin lesion, low ARM  High: high ARM, cloacal malform./exstophy  Compared 1. MRI 2. Plain radiograph 3. Ultrasound 4. No imaging with close follow-up

15. US as neonate Spinal operation at 2-3 mo better if before 3 yo MRI days prior to surgery

16.  89 pts with ARM  Eval at birth with sacral XR and spinal US  MRI performed btwn 6-12 months  53 sacral abnormalities  54 spinal cord abnormalities  Neg XR, + MRI in 4 pts  Neg US, + MRI in 3 pts

17.  MRI best quality and more accurate > 3mo  MRI for all children 6-12 mo  US 1-3 mo  Prior to complete posterior ossification  Recommendations for urodynamics

18.  Retrospective  63 pts in 13 years with ARM  22 tethered cord  MRI prior to 3 months of age  + tethered cord  surgical release  Similar incidence between high and low lesions Pediatric Surgery 2001

19.  Pain  Most likely to improve  75% in symptomatic pts  Neurological  Stabilize or improve 80-90%  Early intervention= greater recovery  Bowel & Bladder  16-67%  Spasticity  63%

21.  High Association between tethered cord and ARM  Multiple different imaging strategies  US in neonate  MRI around 2-3 months  Most would recommend surgery

23.  1. 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(7):966-9; discussion 966-9.  2. Herman RS, Teitelbaum DH. Anorectal malformations. Clin Perinatol. 2012;39(2):403-422. doi: 10.1016/j.clp.2012.04.001.  3. Lew SM, Kothbauer KF. Tethered cord syndrome: An updated review. Pediatr Neurosurg. 2007;43(3):236-248. doi: 10.1159/000098836.  4. Medina LS. Spinal dysraphism: Categorizing risk to optimize imaging. Pediatr Radiol. 2009;39 Suppl 2:S242-6. doi: 10.1007/s00247-008-1115-3.  5. Medina LS, Crone K, Kuntz KM. Newborns with suspected occult spinal dysraphism: A cost- effectiveness analysis of diagnostic strategies. Pediatrics. 2001;108(6):E101.  6. Miyasaka M, Nosaka S, Kitano Y, et al. Utility of spinal MRI in children with anorectal malformation. Pediatr Radiol. 2009;39(8):810-816. doi: 10.1007/s00247-009-1287-5.  7. Mosiello G, Capitanucci ML, Gatti C, et al. How to investigate neurovesical dysfunction in children with anorectal malformations. J Urol. 2003;170(4 Pt 2):1610-1613. doi: 10.1097/01.ju.0000083883.16836.91.  8. Nievelstein RA, Vos A, Valk J, Vermeij-Keers C. Magnetic resonance imaging in children with anorectal malformations: Embryologic implications. J Pediatr Surg. 2002;37(8):1138-1145.  9. Pacheco-Jacome E, Ballesteros MC, Jayakar P, Morrison G, Ragheb J, Medina LS. Occult spinal dysraphism: Evidence-based diagnosis and treatment. Neuroimaging Clin N Am. 2003;13(2):327-34, xii.

25. Shawn Werner, MD ATC Orthopaedic Surgery Intern