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tailgut cyst ( tgc ) is a rare congenital lesion that originates from remnants of the embryonic post - anal gut .
microscopically , the cyst lining is composed of different types of epithelium such as stratified squamous , transitional , or glandular .
we present a term female newborn referred to our hospital for evaluation and management of imperforate anus . during dissection of the presacral space to release the rectum , a multicystic mass adherent to the distal part of rectum
tgc is a very rare lesion , but it should be considered in differential diagnosis of any presacral mass , even in infancy .
complete excision is the preferred treatment and can be done more easily neonatally or in infancy .
tailgut cyst ( tgc ) , first described by middeldorpfin 1885 , as a rare congenital , embryonic hindgut remnant lesion , occurrs extremely rarely in infancy .
it usually presents as a multiloculated cyst in the retrorectal space in adults , mostly young women .
a 3400-g female term newborn was born by normal vaginal delivery and had apgar scores 9/10 at 1 and 5 minutes .
she was referred to our hospital on the first day of life for evaluation and management of imperforate anus .
on the second day of life she underwent proximal sigmoid colostomy with biopsy for evaluation of ganglion cells that was normal in pathology . at 10 weeks of age
, she underwent a distal colostogram to look for fistulas and then underwent a posterior sagittal anorectoplasty . during presacral exploration for distal part of the rectum , a well - demarcated cystic mass adherent to the distal part of rectum posteriorly measuring 43 cm was detected ( fig .
well - demarcated cystic mass in presacral space , adherent to distal part of the rectum pathologic examination of resected mass revealed a multilocular cyst lined by squamous , transitional and pseudostratified epithelium with goblet cells ( fig .
the underlying stroma was composed of fibrous tissue containing scattered bundles of smooth muscle fibers with infiltration of foamy histiocytes .
the patient had an uneventful postoperative course and todate , 14 months after surgery , she is well , with no evidence of disease or any complications .
tgcs ( retrorectal hamartoma , cyst of postnatal intestine , rectal cyst , myoepithelial hamartoma of the rectum , tailgut vestiges ) are rare congenital developmental lesions that are thought to be derived from remnants of the embryonic post - anal gut . during days 28 - 35 of embryonic development ,
the embryo possesses a true tail , which is caudal to the site of subsequent formation of the anus .
it constitutes the tailgut or postnatal gut , which regresses by the 8 week of gestation .
it is hypothesized that failure to regress of the embryological tailgut results in formation of tgc .
they occur mostly in the retro - rectal / presacral space but have also been reported in the perianal , anorectal or posterior sacral regions .
they occur most frequently in young adult women ( 3:1 female to male ratio ) .
although they have been reported at any age , their diagnosis in a neonate like ours is extremely rare .
hjermstad and helwig in their series of 53 cases of tgcs collected over a 35-year period , reported only one case in a 4-day infant .
oh et al presented as a huge sacrococcygeal mass while another case had anal stenosis .
hjermstad and helwig suggest that a stimulus preventing the complete regression of the tailgut may also block closure of vertebral axis in this region and cause sacral anomalies .
they are often asymptomatic and discovered incidentally ( such as ours during anorectoplasty ) but can cause symptoms related to local mass effect such as discomfort on sitting , painful bowel movements or urinary obstruction .
transrectal ultrasonography , computed tomography ( ct ) and mri are preoperative diagnostic tools that can show the exact location and its cystic nature .
however other developmental cysts have imaging findings similar to tgc , and the definite diagnosis relies on histological examination .
grossly , this lesion can be unilocular or multilocular ( 50% ) , ranging in size from 1 cm to 15 cm and its content is variable from clear fluid to dense mucus .
histologically , the lining epithelium of cysts contain transitional and/or glandular - type ( columnar ) epithelium , with or without stratified squamous components and an underlying stroma with fibrous connecative tissue and scattered bundles of smooth muscle fibers .
an important distinctive feature is absence of well - defined muscular layer with nerve plexus and serosa .
regarding the complex embryology of presacral space there is a wide range of differential diagnoses including teratoma , epidermoid and dermoid cyst , rectal duplication cyst , neurenteric cyst , anal duct or gland cyst , neurenteric cyst and anterior meningocele .
sacrococcygeal teratoma which is the most common neoplasm of the newborn , consists of mixed cystic and solid components and also contains skin adnexae , neural elements , and heterologous mesenchymal tissues that are never seen in tgc .
epidermoid cysts are lined only by stratified squamous epithelium and lack smooth muscle fibers in the wall .
in addition , dermoid cysts contain skin appendages ( e.g. , hair follicles and sweet glands ) .
rectal duplication cysts are usually unilocular with prerectal location , lined by an intestinal or respiratory epithelium and have well - defined muscle layers with myenteric plexus . anal duct or gland cysts
can be distinguished by their lower location and their close proximity to anal sphincter and not being in the retrorectal / presacral space .
neurenteric cysts differ from tailgut cysts in their histopathologic analysis in that they contain a well defined lamina propria and a more mature mucosa of endodermal origin ( eg , intestine , bladder ) .
malignant change is a rare event in tgcs , but adenocarcinomas , carcinoid tumors , neuroendo - crine carcinomas , endometrioid carcinoma , adenosquamous carcinoma , squamous cell carcinoma and sarcoma have been reported .
moreira et al showed that malignant transformation in the tailgut cyst is associated with mutation in the tumor inhibitory gene p53 and suggested that dysplasia - carcinoma sequence in a tailgut cyst is similar to the one described in colonic carcinomas based on the analysis of two cases .
because of its potential for infection , occurrence of recurrent perianal fistulas , and the possibility of malignant transformation , complete surgical resection for all tgcs is recommended .
it seems that the excision of tgcs in infancy like ours is much easier than in adults because of less inflammatory response .
tgcs are embryological remnants of the hindgut and are lined with different epithelial types normally found in the gastrointestinal tract including stratified squamous , ciliated columnar , mucin - secreting columnar and transitional . it is important to differentiate it from other lesions in retrorectal space especially sacrococcygeal teratoma .
nevertheless , the possibility of tailgut cyst should be considered in the differential diagnosis of any retrorectal / presacral mass .
backgroundtailgut cyst ( tgc ) is a rare congenital lesion that originates from remnants of the embryonic post - anal gut . 
 it presents as a multilocular presacral mass mainly in young women . 
 microscopically , the cyst lining is composed of different types of epithelium such as stratified squamous , transitional , or glandular.case presentationwe present a term female newborn referred to our hospital for evaluation and management of imperforate anus . during dissection of the presacral space to release the rectum , a multicystic mass adherent to the distal part of rectum 
 was detected and completely excised . 
 histopathology confirmed the tgc diagnosis.conclusiontgc is a very rare lesion , but it should be considered in differential diagnosis of any presacral mass , even in infancy . 
 complete excision is the preferred treatment and can be done more easily neonatally or in infancy .