Early elimination dysfunction associated with cephalic anomalies: Is there a link?

Abstract

Elimination dysfunction in children can be related to three main aetiologies: 1) spinal cord anomalies, 2) social and environmental disorders, and 3) syndromic elimination disorders. From this last group, we report cases of a previously undescribed combination of elimination disorders and cephalic anomalies symptoms which may constitute a proper entity for which conventional treatments may fail. A comprehensive review of congenital elimination disorders is given. Patients and methods Six patients (four boys, two girls) presenting with early elimination dysfunction associated with cephalic anomalies were assessed and treated between 1994 and 2005. None presented with identified lower urinary tract obstruction or spinal cord anomalies. Follow up ranged between 5.5 and 11.5 (mean 6.7) years. Results All six had early elimination disorders, represented by urine retention, urinary tract infections, constipation and soiling. All had facial dysmorphy and cerebral anomalies with developmental delay of varying severity. All had a dilated urinary tract, with severe vesicoureteral reflux in five and one megaureter without reflux. All had abnormal renal isotope scans, two associated with chronic renal failure. The family medical history was significant in some cases. Treatment included early urinary diversion, and there was a high failure rate for ureteral reimplantation. Conclusion The combination of congenital elimination dysfunction with facial anomalies, developmental retardation, cephalic anomalies, abnormal urinary tracts, without identified spinal cord disorders or lower urinary tract obstruction, may represent a defined population of children. Identification may lead to early elimination support measures including temporary bladder diversion, Mitrofanoff diversion, alpha blockers and bowel transit medications.