Sacral Agenesis: An Analysis of 11 Cases and Review of the Literature

Abstract

Sacral agenesis is an uncommon condition associated with familial diabetes mellitus and complicated pregnancy. The condition is characterized by gluteal skin dimpling, loss of gluteal fold, myelomeningocele, sacral lipoma, as well as numerous orthopedic, anorectal and other widespread anomalies. The motor nerve deficit, for example poor anal sphincter tone, is more pronounced than the sensory nerve deficit, for example perianal anesthesia. Diagnosis is made by anteroposterior and lateral spinal x-rays. All of our patients had bladder or external sphincter dysfunction, while 91 per cent had vesicoureteral reflux. Early diagnosis and conservative management with intermittent catheterization and uropharmacological agents are now advocated.

A Rare Cause of Back Pain in Neurosurgery:Caudal Regression Syndrome Associated with Horse-Shoe Kidney: Case Report

“…Diyabetik annelerde görülme oranı 200 kat daha yüksektir. [8][9][10] Gebelik öncesi ve gebeliğin ilk 8 haftasında diyabetin kontrol altında tutulması sonucu anomali oranları azal- maktadır. 11 Bizim hastamızın annesinde de diyabet öyküsü mevcut idi.…”

A Case Report of Caudal Regression Syndrome Associated with an Intraspinal Arachnoid Cyst

“…CRS is often associated with anorectal and genitourinary malformations besides neural abnormalities [1, 13, 14, 15]. Caudal vertebral and spinal cord abnormalities occurred in 40–59% of patients with anorectal malformation, which included high imperforate anus or anorectal atresia, fistulas and esophageal or duodenal atresia [16, 17, 18, 19].…”

Sacral Agenesis in Siblings

“…Regarding the incidence of the anomaly, although approximately 200 cases have been reported previously [3,4,13], the occurrence of sacral agenesis in siblings has only rarely been found. To date, only 2 pairs of siblings have been reported in the literature [5,6].…”

“…The incidence of this pathology ranges from 0.05 to 0.1% and approximately 200 cases have been reported in the world literature [2][3][4]. However, the occurrence of sacral agenesis in siblings has been reported to be extremely rare, and to our knowledge only 2 such reports have been made previously [5,6].…”