Myelodysplasia and Neurogenic Bladder Dysfunction Clinical Presentation

Updated: Jul 09, 2019
  • Author: Terry F Favazza, MD; Chief Editor: Marc Cendron, MD  more...
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Presentation

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 urinary tract infections (UTIs), and attempted treatments (if any).

Often, the urologist sees the newborn before discharge from the hospital, either before or after closure of the spinal defect, and voiding habits may not be known. In this setting, check postvoiding residual volumes, and if they are elevated, institute the use of intermittent catheterization (IC) or an indwelling catheter in the perioperative period.

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Physical Examination

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 distention. In patients who require ventriculoperitoneal (VP) shunting, communicating hydroceles and hernias must 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 (see 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 (see Workup).

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Complications

The meningocele sac is often nothing more than a very thin transparent tissue that may be open and leaking cerebrospinal fluid (CSF). This is a potential source of central nervous system (CNS) infection, which can lead to death if untreated in the perinatal period. Prompt closure of the defect is imperative. The closure itself producing neurologic symptoms is a concern, but this appears to happen in fewer than 5% of patients.

Urologic morbidity in patients with myelodysplasia is significant. Myelodysplasia can contribute to voiding dysfunction, UTIs, vesicoureteral reflux (VUR), and renal scarring. Surgery may be required to establish adequate bladder drainage. If not managed appropriately, myelodysplasia can cause significant urologic problems that can potentially lead to progressive renal failure, necessitating dialysis or transplantation.

UTIs are common in infants with myelodysplasia, and patients must be promptly treated when recognized. Recurrent infections, especially those associated with a poorly compliant bladder and VUR, can lead to pyelonephritis, renal scarring, and an eventual loss of renal function. [7]  In the absence of reflux, patients with infections are usually treated symptomatically, but in children who experience recurrent infections, prophylactic treatment can be instituted.

VUR occurs in 3-5% of infants with myelodysplasia and is usually associated with detrusor hyperreflexia or dyssynergia. If the neurogenic bladder remains untreated, the incidence of VUR increases with time until, by age 5 years, 30-40% of children are affected.

Treatment of VUR consists of antibiotic prophylaxis to prevent infection, anticholinergic medications to lower detrusor filling pressures, and use of a method to empty the bladder (most commonly, IC). In the most severe cases of reflux or if evidence of progressive renal scarring is apparent, surgery can be performed to lower bladder storage pressures or to provide an antireflux mechanism.

Renal damage or failure can occur as a product of repeated infections with progressive renal scarring and damage or as a result of obstruction caused by inability to empty the bladder. This can occur slowly over a period of years or with surprising rapidity, underscoring the need for regular lifelong follow-up care in patients with myelodysplasia. Even with maximal medical and surgical therapies, renal failure can occur (albeit rarely), and dialysis or transplantation may be needed.

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