Management of urological dysfunction in pediatric patients with spinal dysraphism: review of the literature

Abstract

<jats:p>An intact, fully functional spine is the result of a complex sequence of embryological events involving both nervous and musculoskeletal system precursors. Deviations from this highly ordered system can result in congenital abnormalities ranging from clinically insignificant cosmetic changes to CNS malformations that are incompatible with life. Closure of the neural tube, which is believed to be the embryological event gone awry in these cases, is complete by just 28 days' gestation, often before pregnancy is detected. Although progress has been made to help prevent neural tube defects in the children of those attempting to conceive, these congenital deformities unfortunately continue to affect a startling number of infants worldwide each year. Furthermore, the precise mechanisms governing closure of the neural tube and how they might be interrupted remain elusive. What is known is that there are a large number of individuals who must deal with congenital spine dysraphism and the clinical sequelae on a daily basis. Bladder and urinary dysfunction are frequently encountered, and urological care is a critical, often neglected, component in the lifelong multidisciplinary approach to treatment. Although many treatment strategies have been devised, a need remains for evidence-based interventions, analysis of quality of life, and preemptive education of both caregivers and patients as they grow older. Pediatric neurosurgeons in particular have the unique opportunity to address these issues, often in the first few days of life and throughout pre- and postoperative evaluation. With proper management instituted at birth, many patients could potentially delay or avoid the potential urological complications resulting from congenital neurogenic bladder.</jats:p>

Drug development for pediatric neurogenic bladder dysfunction: Dosing, endpoints, and study design

“…Although both children and adults may develop NBD from traumatic spinal cord injury, the etiology and presentation of non‐traumatic NBD differ between children and adults . Non‐traumatic NBD in children is most commonly caused by congenital neural tube defects such as myelomeningocele . In contrast, non‐traumatic NBD in adults is most commonly acquired by infection or diseases of the central or peripheral nervous systems …”

Importance of Physical Examination and Imaging in the Detection of Tethered Cord Syndrome

“…9 Early detection of worsening urological function permits timely tethered cord release prior to irreversible urological damage. 4,9,12,17…”

“…Spinal dysraphism has an incidence of 0.5 to 0.8 cases per 1000 live births and may present as open (neural tissue is exposed to external environment such as myelomeningocele or myelocele) or occult (skin-covered lesions without exposed neural tissue). 1,2,9 Occult spinal dysraphism (OSD) may be harmless—for example, spina bifida occulta, which is more an anatomic variation than a “disease.” One type of OSD, tethered cord syndrome (TCS), may result in permanent neurologic and orthopedic problems if not diagnosed and treated in a timely manner. While open spinal defects receive prompt neurosurgical intervention at birth, TCS (aka neuro-orthopedic syndrome) may present with few clinical findings and a more insidious and delayed appearance of symptoms.…”

Intraspinal and Urogenital Abnormalities in Infants with Sacral Cutaneous Lesions

“…에서 유래된 모든 결손을 포함하므로 피부 병변 이외에 중추신경 계, 골격계, 요로계 기능에도 영향을 줄 수 있다 2,6) . 잠재 7,8,23,24) , 척수 종말끈 낭종도 배아기 잔존물이라 고 추측되지만 아직까지 정확한 기원과 타당성에 대해서 밝혀진 바는 없다 8,9) .…”