Agenesia totale del sacro e disfunzione vescicale neurogena.

Translated title of the contribution: Total agenesis of the sacrum and neurogenic bladder dysfunction

M. L. Capitanucci, M. Silveri, S. Nappo, G. Mosiello, N. Capozza, M. De Gennaro

Research output: Contribution to journalArticlepeer-review


Total Sacral Agenesis (TSA) is a rare congenital anomaly of the lower vertebral column, frequently associated with bladder dysfunction. The diagnosis is often delayed until the evidence of neurological disorders addresses at neuro-radiological examination. In the last 9 years we observed 7 children, 3 males and 4 females, with TSA. The average age at diagnosis was 8 years (range: 1-15 years). Maternal diabetes was present only in one case. In 5 patients, urological ones have been the symptoms of presentation. In one case, TSA has been discovered because of the presence of a sacral mass (lipoma) and the subsequent development of club-foot. The neurological screening, performed in all patients with anorectal anomalies, led to the diagnosis of total sacral agenesis in a child with anteriorized anus. All patients have been evaluated by means of Magnetic Resonance Imaging, renal ultrasound, voiding cystography, renal nuclear scan and urodynamics. The functional evaluation of the lower urinary tract has shown a pattern of neurogenic bladder dysfunction in all children, while bilateral vesico-ureteral reflux has been detected in 2 cases. Intermittent clean catheterization (ICC) has been instituted at the diagnosis in all children. Surgery for continence and protection of upper urinary tract (bladder augmentation and bilateral ureteral reimplantation) has been performed in one patient. At a medium follow-up of 3 years (range: 1-5 years) 2 patients have been lost, normal renal function and urinary continence have been achieved in 4 and one child is continent but has renal failure. An early diagnosis and a correct neuro-urological evaluation and treatment are necessary to prevent urinary tract damage and achieve urinary continence in these patients. Symptoms, clinical findings and relationship with maternal diabetes are discussed. The diagnosis can be enough early if physicians pay attention to maternal diabetes, subtle neurological symptoms (voiding disturbance, constipation, club-foot) and careful physical examination of the back.

Translated title of the contributionTotal agenesis of the sacrum and neurogenic bladder dysfunction
Original languageItalian
Pages (from-to)113-116
Number of pages4
JournalPediatria Medica e Chirurgica
Issue number2
Publication statusPublished - Mar 1997

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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