Mayer-Rokitansky syndrome and anorectal malformation

Mayer Rokitansky Kuster Houser syndrome (MRKH syndrome) is characterized by Mullerian duct structures agenesis, vaginal atresia being the commonest variant. It can be associated with renal, skeletal, spine and other malformations. Patient with Mayer Rokitansky syndrome has a varied presentation from newborn period to adolescence. Thorough investigations are required for classification of the syndrome and diagnosis of associated anomalies. The MRKH syndrome patient may require complex vaginal reconstructive surgery and a detailed counseling about the potentials of menstruation and fertility. Here we are presenting a patient having association of anorectal malformation, Mullerian duct agenesis and renal anomaly.     

Hirschsprung disease and anorectal malformation

Hirschsprung disease and Anorectal Malformations are congenital disorders presenting in neonates with distal intestinal obstruction. Hirschsprung disease is associated with a functional distal bowel obstruction resulting from the abnormal development of the enteric nervous system and ensuing aganglionosis of the distal gut. Anorectal Malformations comprise a spectrum of anatomical anomalies causing a mechanical bowel obstruction. Both conditions are frequently associated with congenital abnormalities/syndromes, which require careful assessment and evaluation. Surgical intervention is usually required for both conditions with careful preparation and meticulous technique. Long-term follow-up allows early identification and treatment of potentially debilitating symptoms, which include faecal incontinence.     

Management of anorectal malformation in neonates

Anorectal malformations are one of the commonest anomalies in the new born. Major advances have been made in the last decade in operative techniques to reconstruct this abnormality. The final outcome in these babies is dependent on careful planning and operative intervention in the neonatal period. The purpose of this paper is to discuss the varied presentations of this anomaly, initial assessment and operative management with reference to our own experience.     

Postoperative anorectal manometric evaluation of patients with anorectal malformation

BACKGROUND: Fecal incontinence is a common problem after reconstructive surgery for anorectal malformations. The aim of this study was to investigate the effectiveness of clinical scores and anorectal manometry in patients, who have been operated on for anorectal malformations. METHODS: In total, 18 patients who underwent surgery for anorectal malformation between 1999 and 2004 were investigated for anal continence. For the assessment of the patients' continence, Kelly's clinical scoring, Kiesewetter-Chang scoring, and anorectal manometry were used. RESULTS: In the intermediate level anorectal malformations, average anal resting pressure was found as 58.16 +/- 8.14 cmH(2)O and in high level anorectal malformations was found as 40.16 +/- 17.4 cmH(2)O. In the continence score, good according to Kelly and Kiesewetter-Chang scoring systems was an average anal resting pressure value of 57.92 +/- 8.57 cmH(2)O and in fair or bad was found as 32 +/- 12.83 cmH(2)O. There were significant differences between the scoring systems anorectal malformation level, and average anal resting pressure values (P < 0.05). CONCLUSIONS: Anorectal manometric evaluation of the patients in postoperative period with anorectal malformation can give more realistic information about the patient continence status in anorectal malformations.     

Prune-belly syndrome with anorectal malformation.

Associated abnormalities of other organ systems result in considerable long-term morbidity in patients of prune-belly syndrome (PBS). The gastrointestinal anomalies commonly observed with PBS are persistence of the embryonic wide mesentery and absence of fixation to the posterior abdominal wall, whereas anorectal malformations (ARM) are rarely associated with PBS. We describe one such case of PBS associated with high ARM and urethral stenosis in a one-day-old male newborn. The neonate underwent preliminary sigmoid colostomy for ARM, but he subsequently developed necrotizing gastritis and gastric perforation in the postoperative period and had to undergo partial gastrectomy and vesicostomy. The neonate developed fatal septicemia after second surgery. A review of all the reported cases of this association is presented and the dilemmas in the management of these cases are discussed.     

Tethered cord associated with anorectal malformation

Ten children with a tethered cord and also an anorectal malformation are reported in this document. The anorectal malformations comprised 5 vesicointestinal fissures, 2 cloacal exstrophies, 2 rectovesical fistulas and 1 rectobulbar fistula. All of the patients underwent colostomy in advance of surgery for untethering of the spinal cord. Although their neurologic deficits had previously been considered static, they were subjected to radiographic examination of the caudal spine and found to have a tethered cord. These 10 children were among 55 children with a tethered cord surgically treated at the Division of Neurosurgery of the Osaka Medical Center and Research Institute for Maternal and Child Health during the last 11 years. Data were obtained for these 10 children (6 boys and 4 girls, mean age 1.7 years) who underwent surgical untethering. Several hypotheses are offered to explain this association. Anorectal malformations are related to underlying spinal cord anomalies, which may be amenable to neurosurgical correction. Eight of our patients had no skin stigma of the lumbosacral region, in contrast to an ordinary tethered cord. Spinal cord imaging is necessary to closely scrutinize these children.     

大鼠肛门直肠畸形的胚胎发育研究

目的：观察大鼠正常的和畸形的肛门直肠发育过程，探讨肛门直肠畸形的胚胎发生机制。方法：用乙烯硫脲（ethylenethiourea,ETU）致畸21只孕鼠共生产泄殖腔畸形和无肛畸形胎鼠（204只）。胎龄12．5－20d的正常（n=223)及泄殖腔发育畸形的胎鼠正中矢状连续切片HE染色。连续动态对比观察泄殖腔及肛门直肠的发育过程。结果：泄殖腔发育过程中，胎龄15d前的正常鼠胚，尿直肠隔将泄殖分为腹侧的尿生殖窦和背侧的直肠两部分，二者共同相通于泄殖腔管，尿直肠隔下降与泄殖腔膜的距离逐渐减小，直至胚胎15d时与泄殖腔膜融合，直肠与膀胱分离。16d时肛膜破裂，直肠与尾沟相通。ETU致畸的胎鼠泄殖腔发育中有以下下特点；（1）尿直肠隔始终未与泄殖腔膜融合；（2）泄殖腔构型异常；（3）泄殖腔膜过短；（4）没有尾沟形成。ETU致畸胎鼠中所有的无肛畸形均为泄殖腔畸形和直肠尿道瘘。结论：鼠胚胎15d时尿直肠隔与泄殖腔膜融合。胚胎16d肛膜完全破裂，直肠与外界相通。泄殖腔构型的变化以及尿直肠隔下降并与泄殖腔隔合使直肠与膀胱分离。尿直肠隔与泄殖腔膜融合是直肠和膀胱分离的决定因素。肛门直肠畸形发生与泄殖腔构型异常以及尿直肠隔未与泄殖腔膜融合等因素有关。尿直肠隔未与泄殖腔融合是ETU诱导的大鼠肛门直肠畸形发生的直接原因。     

Urethral duplication in association with anorectal malformation.

Urethral duplication is an uncommon congenital anomaly, not often reported, which may be partial or complete. Anorectal malformations are not as uncommon and they may be associated with a host of associated anomalies. However, the association of urethral duplication with anorectal malformation is rare; this report describes two such cases. In one case the intervening septum could be incised endoscopically and in the other case the duplicated urethra was excised.     

New concepts in preoperative imaging of anorectal malformation

In this study of 14 patients with anorectal anomalies CT and MRI were employed for preoperative assessment. The use of a pressure enhanced water soluble enema via the colostomy proved to be an extremely efficient method for showing a fistula. MRI studies were enhanced by the use of vaseline oil and in one case this technique was used prior to surgery to provide important information by injecting through a perineal fistula. CT and axial MRI proved to be more valuable than sagittal MRI which is only useful for the length of the atretic segment. The authors consider that a combined approach using pressure enhanced water soluble enema and MRI will provide the most valuable preoperative information to plan a successful operative approach and enable an accurate prognostic evaluation of continence in these difficult and complex patients.     

肛门直肠畸形术后患儿行为问题的研究

目的探讨肛门直肠畸形术后患儿行为问题的状况.方法随访67例肛门直肠畸形术后患儿,在肛门功能临床评分基础上应用Achenbach's儿童行为问题量表调查其行为问题状况.结果67例肛门直肠畸形术后患儿中,13例(19.4%)存在行为问题,显著高于对照组.9例重度便失禁(肛门功能临床评分0～2分)患儿中,6例存在行为问题,明显高于其他患儿.结论严重便失禁影响肛门直肠畸形患儿行为问题,应进行长期随访,提高其生活质量.     

Spontaneous ileal perforation complicating low anorectal malformation

Anorectal malformation is a common anomaly in neonates. Although colorectal perforations have been reported as a complication, ileal perforation is rarely encountered. This is a report of a 2-day-old boy presenting with a low anorectal malformation, complicated with ileal perforation, necessitating laparotomy and ileal repair. Anoplasty was done for the low anomaly. Early presentation and prompt treatment of anorectal malformations is important to prevent such potential life threatening complication.Key words: Ileal perforation, low anorectal anomaly, spontaneous     

Quality of life in children and adolescents with anorectal malformation

Purpose

Quality of life (QOL) is an important endpoint in health outcomes research, especially in pediatric chronic conditions. While some studies suggest that patients with ARM report a lower level of physical and psychosocial QOL, as compared to healthy peers, not all research shows this consistently. The aim of this study was to compare the QOL of Italian children and adolescents with ARM to the QOL of a large control sample of healthy peers.

Methods

Parents of 109 children with ARM and 336 schoolchildren, completed the Pediatric Quality of Life Inventory. Analysis of variances were used to compare the groups.

Results

Compared to healthy peers, children with ARM showed lower emotional functioning (F = 8,41; p = .004), social functioning (F = 4,9; p = .027) and school functioning (F = 14,7; p = .000). In the adolescent group, females had a worse QOL in the physical functioning domain (F = 5,01; p = .03) than males, independent of group membership.

Conclusions

While children with ARM show a more impaired QOL compared to their peers, this difference does not emerge in the adolescent group. Our results are consistent with previous findings which hypothesize that while patients with ARM face more difficulties during childhood, by adolescence they may have learned to overcome these difficulties.     

EphB2在肛门直肠畸形中的表达及其意义

目的 研究EphB2在先天性肛门直肠畸形直肠末端组织中的表达并探讨其临床价值.方法 采用免疫组织化学法和免疫荧光分析方法检测20例先天性肛门直肠畸形患儿直肠末端肠壁和8例正常对照直肠末端肠肇的EphB2的表达情况.结果 免疫组织化学检测到EphB2蛋白在畸形组和对照组均有表达,定位在直肠肠壁黏膜层细胞的胞质和胞膜中.畸形组EphB2表达的累积光密度值(30.43±11.41)明显低于对照组(81.62±20.45),差异有统计学意义(P<0.01).结论 EphB2在肛门直肠畸形的直肠末端黏膜层表达水平减低,EphB2的表达可能和先天性肛门直肠畸形的发生密切相关.     

Utility of spinal MRI in children with anorectal malformation

Background  The association between spinal cord anomalies and imperforate anus is well recognized. Until now, the incidence of tethered cord has been assumed to be higher in patients with high-type imperforate anus. However, recent reports suggest that tethered cord is as common in patients with a low lesion as in those with a high lesion. Objective  To review the incidence of spinal cord anomalies in those with a low lesion and those with a high (including intermediate) anorectal malformation (ARM), and to determine the best diagnostic imaging strategy. Materials and methods  A group of 50 consecutive patients with postoperative ARM and in whom spinal MRI had been performed were identified retrospectively. We reviewed and compared the following factors between those with a high lesion and those with a low lesion: (1) clinical symptoms, (2) spinal cord anomalies, and (3) vertebral anomalies. Results  The incidence of spinal cord anomalies was no different between those with a high lesion and those with a low lesion, and spinal cord anomalies were present regardless of the presence of vertebral anomalies or symptoms. Conclusion  Owing to the high incidence of spinal cord anomalies in patients with imperforate anus, MRI is the best imaging tool for detecting such anomalies regardless of the level of the lesion.     

先天性无肛畸形Gli2基因表达的研究

目的：探讨先天性肛门直肠畸形直肠末端SHH转录反应因子Gli2基因表达水平与畸形的关系。方法：采用RT－PCR方法检测16例不同类型先天性肛门直肠畸形直肠后壁末端及8例正常直肠后壁末端Gli2的表达水平,应用t检验比较正常组与畸形组、不同畸形类型之间Gli2表达水平的差异。结果:肛门直肠畸形直肠后壁末端Gli2的表达水平明显低于正常直肠（P＝0．01）,各不同类型畸形之间Gli2表达水平无明显差异（P＞0．05）。结论：Gli2表达水平减低与肛门直肠畸形的发生有关,还有其他机制参与该畸形的发生。     

CT of anorectal malformation — a postoperative evaluation

In spite of the progress in the field of surgical treatment of anorectal malformations, faecal incontinence is, in variable degrees, still an unpleasant and frequent postoperative sequela. Postoperative CT demonstrate the location of the pulled-through intestine, including whether it had been correctly placed through the levator ani and in the spincteric muscular complex. In our nine patients we discovered a correlation between the CT findings and the clinical picture. The cases of incontinence whether associated with sacral anomalies or not were characterized either by marked hypoplasia of musculature or by the pull-through having missed the sphincteric musculature. CT scans could be of use in planning further surgery.