A boy with urinary incontinence due to sacral agenesis
Master A.T. was brought from Thane and had poor stream of urine, straining during urination and constant dribbling of urine since birth. He also had severe constipation starting at 6 months of age. The child was seen and initially managed elsewhere and underwent 3 cystoscopic surgeries for suspected urethral obstruction at some other hospital but there was no improvement. He also underwent rectal biopsy and barium enema for severe constipation but it was normal.
The child also had history of repeated severe urinary infections requiring antibiotics and he was finally referred to us during one such episode. He was 7 years of age at the time of first visit with us and he was always in diapers till this age.
Clinical evaluation showed mild weakness in foot extensors and calf muscles, the gluteal crease was short and shallow and the buttocks were not well developed. Bulbocavernosus reflex was weak and anocutaneous reflex was also weak. Sacrum was not palpable beyond S1.
A diagnosis of sacral agenesis with neuropathic bladder was made. In view of the previous surgeries and also before beginning life long therapy and extensive set of investigations was done.
A USG showed hydronephrosis on right side with dilated ureter and a thick walled bladder. A MCU showed small capacity trabeculated bladder with massive Right sided VUR. The sacrum was noted to be absent beyond S1 confirming the diagnosis of partial sacral agenesis. Posterior urethra was dilated with prominent external sphincter impression (probably earlier mistaken as posterior urethral valve). Urodynamic study showed high pressure bladder with uninhibited contractions and leak at 60 ml. A DMSA scan showed a scarred poorly functioning right kidney (19%) and a normal left kidney.
A urine culture based antibiotic was given to treat his infection and he did well with that. He also put on low dose antibiotic prophylaxis for prevention of infections. But most importantly he was started on CIC and anticholinergic medicine. At one month follow-up the boy is free from infections and remains dry. He has also been started on bowel management program to take care of constipation. Parents are very happy as the child is free of diapers.
 
plain x-ray spine showin absent last 3 sacral bones MCU showing small capacity bladder with gross right reflux
 
Post void MCU film showing residual contrast DMSA scan showing poorly functioning right kidney
Facts about CIC
  • CIC- Clean intermittent catheterization – is a modality of treatment which involves regular bladder catheterization at home to avoid over distension of bladder, to lower bladder pressures and to prevent infections. 
  • It is the most simple and effective strategy for children with neuropathic bladder and various other ailments which lead to poor bladder emptying. Note it is not a sterile catheterization, it is clean catheterization done by parents/ or patients themselves once they are trained and in familiar circumstances at home or at work.
  • CIC has changed the lives of millions of young kids and adults as they no longer need to wear diapers or urinary collecting bags. CIC permits them to live a free life and contribute more to the family and society.
  • Initially parents and caregivers may find it difficult to adjust to CIC but once they realize that CIC can keep the child free of diapers and infections, they are very happy with it.
  • CIC can also help in avoiding major reconstructive surgeries if chosen properly and given along with other medicines.
  • In female children and also in boys with pain during catheterization an alternative route for passing a catheter to empty the bladder may be provided to help in CIC. Such a channel is created surgically by using appendix or a short segment of small intestine. This can be cosmetically hidden in the navel. This procedure is called Mitrofanoff principle.
  • CIC is also required after all bladder augmentation surgeries.
Facts about Sacral agensis
  • Sacral agenesis refers to a condition where the sacrum (bone supporting the whole spine and wedged between the hip bones) is partially or wholly absent.
  • This leads to defective nervous control over the bladder function and also over anus.
  • In very severe cases even the nerve supply to legs may be affected.
  • Most commonly these children come to attention because of poor urinary control or recurrent urinary infections.
  • Diagnosis is based on clinical examination and x-ray of the lower spine. Further investigations like ultrasound and renal scans are done in selected children.
  • Urodynamic studies remain the cornerstone in evaluating such kids and then following up the therapy.
  • We have recently finished a Project "Urodynamic patterns in children with sacral agenesis" in collaboration with Dr Stuart Bauer from Boston Children's Hospital and Harvard University. This will probably be the largest series in the world and will help in educating fellow physicians about this rare disorder and also how to manage it.
Dr A.K.Singal is one of the top and best pediatric urologists in India and he runs pediatric urology clinic in Navi Mumbai, Mumbai and Thane. He also personally does urodynamic study in children who need treatment for urine leak, neurogenic baldder or have bladder control issues. 

 

 
Go Back to Index Cases