Myelodysplasia and Neurogenic Bladder Dysfunction Clinical Presentation

  • Author: Terry F Favazza, MD; Chief Editor: Marc Cendron, MD   more...
 
Updated: Aug 26, 2010
 

History

  • Obtain a birth history from the parents. Asking about any difficulties with pregnancy or delivery is important, as is obtaining a history of spinal dysraphism in either parent, their families, or siblings.
  • When myelodysplasia is present, observe the voiding patterns of the child and gather a specific voiding history from caregivers. Admittedly, this may be difficult in newborns.
  • Pay attention to the presence of straining, the force and caliber of the urinary stream, dry diaper intervals, a history of UTIs, and attempted treatments (if any).
  • Often, the urologist sees the newborn before discharge from the hospital, either before or following closure of the spinal defect, and voiding habits may not be known. In this setting, check postvoiding residual volumes and, if elevated, institute the use of IC or an indwelling catheter in the perioperative period.
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Physical

  • The open myelodysplastic defect is obvious, and contents of the sac can often be detected within the membrane, helping to establish the diagnosis. If the patient is stable, closure of the spinal defect usually takes precedence over other issues. Once closure is complete, a full physical examination is necessary.
  • Search for any other abnormalities and assess neurologic function. Careful inspection of the genitalia is necessary to evaluate for any ambiguities regarding the sex of the child and to look for hypospadias and cryptorchidism in males. Pay attention to the abdominal musculature, lower extremity function, anal sphincter tone, and the presence of a sacral reflex arc (bulbocavernosus reflex), which is tested for by gently squeezing the penis or clitoris and watching for an anal wink. Additionally, during the abdominal examination, attempt to assess renal size and the presence and degree of bladder distension. In patients who require ventriculoperitoneal (VP) shunting, communicating hydroceles and hernias need to be identified for surgical correction.
  • If the child is apparently unable to spontaneously empty the bladder, the use of IC is initiated. The expected bladder capacity of the newborn is 10-15 mL, and residual volume should be less than 5 mL. The definitive examination of bladder function is a urodynamic study, which is discussed in Other Tests.
  • Although physical examination focuses on looking for other anomalies and assessing neurologic function in patients with open defects, the presence of skin discoloration, a mole, a tuft of hair, or a dimple may be the only sign of underlying spinal defect in patients with occult dysraphic states. Evaluate these children with the appropriate imaging studies and a urodynamic study to define the defects.
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Causes

The exact cause of dysraphism is unknown, but many factors appear to be involved. Genetic, environmental, and nutritional factors have been implicated, although no specific etiology has been pinpointed.

  • Genetic: If myelodysplasia is present in one child in a family, the chance of having a second child with the same condition is 2-5%. Prevalence of myelodysplasia is increased in children born to mothers older than 30 years. Currently, no genetic markers have been linked to the presence of myelodysplasia.
  • Environmental: Studies of open in vivo neural tube defects indicate that the exposed tissue in the myelomeningocele sustains secondary injury from mechanical and chemical factors during its prolonged exposure to the uterine environment. The additive effects of the congenital defect and the superimposed trauma appear to combine to determine the total neurologic deficit displayed by the infant.
  • Nutritional: Prevalence of neural tube defects appears to be increased in the offspring of mothers who had folic acid deficiency during pregnancy. Based on these data, the current RDA of 400 mcg/d of folic acid was established for women during pregnancy.
  • Diabetes: Sacral agenesis appears to be associated with diabetes, specifically, with the presence of insulin during fetal development. Maternal diabetes mellitus is seen in 12-18% of patients with sacral agenesis, and 1% of children born to mothers who are insulin dependent have the condition. Although the mechanism is unknown, the defect has been reproduced when chick embryos are exposed to insulin.
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Contributor Information and Disclosures
Author

Terry F Favazza, MD  Physician, Urological Associates of Southern Arizona

Terry F Favazza, MD is a member of the following medical societies: American Urological Association, Arizona Medical Association, California Medical Association, Endourological Society, and Oregon Medical Association

Disclosure: Nothing to disclose.

Coauthor(s)

Harry P Koo, MD  Chairman of Urology Division and Director of Pediatric Urology, Virginia Commonwealth University; Professor of Surgery, VCU School of Medicine, Medical College of Virginia; Director of Urology, Children's Hospital of Richmond

Harry P Koo, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Surgeons, and American Urological Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Howard M Snyder III, MD  Professor, Department of Surgery, Division of Pediatric Urology, University of Pennsylvania School of Medicine

Howard M Snyder III, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Surgeons, American Medical Association, American Urological Association, and National Kidney Foundation

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Pharmacy Editor, eMedicine

Disclosure: Nothing to disclose.

Martin David Bomalaski, MD, FAAP  Pediatric Urologist, Alpine Urology

Martin David Bomalaski, MD, FAAP is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, and American Urological Association

Disclosure: Nothing to disclose.

Daniel Rauch, MD, FAAP  Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine

Daniel Rauch, MD, FAAP is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine

Disclosure: Baxter Honoraria Consulting

Chief Editor

Marc Cendron, MD  Associate Professor of Surgery, Harvard School of Medicine; Consulting Staff, Department of Urological Surgery, Children's Hospital Boston

Marc Cendron, MD is a member of the following medical societies: American Academy of Pediatrics, American Urological Association, European Society for Paediatric Urology, Johns Hopkins Medical and Surgical Association, New Hampshire Medical Society, Society for Fetal Urology, and Society for Pediatric Urology

Disclosure: Nothing to disclose.

References

  1. Selzman AA, Elder JS, Mapstone TB. Urologic consequences of myelodysplasia and other congenital abnormalities of the spinal cord. Urol Clin North Am. Aug 1993;20(3):485-504. [Medline].

  2. Shaw GM, Velie EM, Wasserman CR. Risk for neural tube defect-affected pregnancies among women of Mexican descent and white women in California. Am J Public Health. Sep 1997;87(9):1467-71. [Medline].

  3. Kochakarn W, Ratana-Olarn K, Lertsithichai P, Roongreungsilp U. Follow-up of long-term treatment with clean intermittent catheterization for neurogenic bladder in children. Asian J Surg. Apr 2004;27(2):134-6. [Medline].

  4. Bruner JP, Tulipan N, Paschall RL, et al. Fetal surgery for myelomeningocele and the incidence of shunt-dependent hydrocephalus. JAMA. Nov 17 1999;282(19):1819-25. [Medline].

  5. Bruner JP, Richards WO, Tulipan NB, Arney TL. Endoscopic coverage of fetal myelomeningocele in utero. Am J Obstet Gynecol. Jan 1999;180(1 Pt 1):153-8. [Medline].

  6. Meuli M, Meuli-Simmen C, Hutchins GM, et al. In utero surgery rescues neurological function at birth in sheep with spina bifida. Nat Med. Apr 1995;1(4):342-7. [Medline].

  7. Tulipan N, Bruner JP. Myelomeningocele repair in utero: a report of three cases. Pediatr Neurosurg. Apr 1998;28(4):177-80. [Medline].

  8. Akbar M, Abel R, Seyler TM, et al. Repeated botulinum-A toxin injections in the treatment of myelodysplastic children and patients with spinal cord injuries with neurogenic bladder dysfunction. BJU Int. Sep 2007;100(3):639-45. [Medline].

  9. Riccabona M, Koen M, Schindler M, et al. Botulinum-A toxin injection into the detrusor: a safe alternative in the treatment of children with myelomeningocele with detrusor hyperreflexia. J Urol. Feb 2004;171(2 Pt 1):845-8; discussion 848. [Medline].

  10. Schulte-Baukloh H, Michael T, Stürzebecher B, Knispel HH. Botulinum-a toxin detrusor injection as a novel approach in the treatment of bladder spasticity in children with neurogenic bladder. Eur Urol. Jul 2003;44(1):139-43. [Medline].

  11. Altaweel W, Jednack R, Bilodeau C, Corcos J. Repeated intradetrusor botulinum toxin type A in children with neurogenic bladder due to myelomeningocele. J Urol. Mar 2006;175(3 Pt 1):1102-5. [Medline].

  12. Schurch B, de Sèze M, Denys P, Chartier-Kastler E, Haab F, Everaert K. Botulinum toxin type a is a safe and effective treatment for neurogenic urinary incontinence: results of a single treatment, randomized, placebo controlled 6-month study. J Urol. Jul 2005;174(1):196-200. [Medline].

  13. Bauer SB. Voiding dysfunction in children: Neurogenic and non-neurogenic. In: Walsh PC, Wein AJ, Retik AB, Vaughan ED, eds. Campbell's Urology. Vol 3. 8th ed. WB Saunders Co; 2002:2231-2261.

  14. Bauer SB. The management of the myelodysplastic child: a paradigm shift. BJU Int. Oct 2003;92 Suppl 1:23-8. [Medline].

  15. Bellinger MF. Myelomeningocele and neuropathic bladder. In: Gillenwater JY, Howard SS, Grayhack JT, eds. Adult and Pediatric Urology. 3rd ed. Mosby-Year Book; 1996:2489-528.

  16. Carr MC. Prenatal management of urogenital disorders. Urol Clin North Am. Aug 2004;31(3):389-97, vii. [Medline].

  17. Elliott SP, Villar R, Duncan B. Bacteriuria management and urological evaluation of patients with spina bifida and neurogenic bladder: a multicenter survey. J Urol. Jan 2005;173(1):217-20. [Medline].

  18. Ellsworth P, Gormley EA, Cendron M. Urodynamic testing in the pediatric patient. In: American Urological Associate Update Series. Lesson 12. Vol 18. AUA; 1999:90-5.

  19. Hayashi Y, Yamataka A, Kaneyama K, et al. Review of 86 patients with myelodysplasia and neurogenic bladder who underwent sigmoidocolocystoplasty and were followed more than 10 years. J Urol. Oct 2006;176(4 Pt 2):1806-9. [Medline].

  20. Husmann DA. Occult spinal dysraphism (the tethered cord) and the urologist. In: American Urological Association Update Series. Lesson 10. Vol 14. AUA; 1995:78-83.

  21. Poppas D, Bauer S. Urologic evaluation of the myelodysplastic child. In: American Urological Association Update Series. Lesson 36. Vol 16. AUA; 1997:282-7.

  22. Sakakibara R, Hattori T, Uchiyama T, et al. Uroneurological assessment of spina bifida cystica and occulta. Neurourol Urodyn. 2003;22(4):328-34. [Medline].

  23. Snodgrass WT, Adams R. Initial urologic management of myelomeningocele. Urol Clin North Am. Aug 2004;31(3):427-34, viii. [Medline].

  24. Stone, AR. Neurourologic evaluation and urologic management of spinal dysraphism. Neurosurg Clin N Am. 1995;6(2):269-277. [Medline].

  25. Sutherland RS, Mevorach RA, Baskin LS, Kogan BA. Spinal dysraphism in children: an overview and an approach to prevent complications. Urology. Sep 1995;46(3):294-304. [Medline].

  26. Tarcan T, Bauer S, Olmedo E, et al. Long-term followup of newborns with myelodysplasia and normal urodynamic findings: Is followup necessary?. J Urol. Feb 2001;165(2):564-7. [Medline].

 
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