Anorectal malformation with congenital absence of vagina: a case report and review of the literature

Congenital anorectal malformations are relatively common, and associated genitourinary malformations have been reported in up to 40% of patients. Uterovaginal malformations are also not rare in children. They are known to occur with increased frequency in children with anorectal malformations, but the diagnosis may still be difficult. We report herein one such case of anorectal malformation associated with congenital total absence of the vagina in which the uterovaginal malformation was not diagnosed until the operative repair of the anorectal malformation. The operative procedure was thereafter directed, along with the anorectoplasty, towards restoring a functional uterovaginal tract. Review of the literature revealed that such a diagnosis is unsuspected or delayed in more than half of affected patients. Furthermore, these patients present with many diagnostic and therapeutic problems. Our report highlights the need to be aware of this condition to allow for an earlier diagnosis and appropriate operative treatment.     

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。     

Johanson-Blizzard syndrome: a case report]

The Johanson-Blizzard syndrome is a rare autosomal recessive syndrome. This syndrome includes congenital aplasia of the cutis, aplasia of the alae nasi, bilateral hearing loss, dental malformations and pancreatic insufficiency. CASE REPORT: We report a sporadic case male infant from nonconsanguineous parents. He presented aplasia of the cutis and high anorectal malformation, associated with exocrine pancreatic insufficiency. A colostomy was performed at birth and anorectal atresia was corrected surgically at two months. Exocrine pancreatic insufficiency required immediate enzyme supplementation.     

Exstrophy variants: should they be considered malformation complexes separate from classic exstrophy?

PURPOSE: Exstrophy variants are very rare and have a better prognosis than classical exstrophy. The authors came across a case of superior vesical fissure (SVF) together with esophageal atresia and tracheoesophageal fistula (EATEF) and a case of SVF with gross limb anomalies. These associated malformations have not been reported so far in the literature and hence we reviewed all the cases of exstrophy variants presented to us with particular emphasis on the associated malformations. METHODS: Records (n=9) of patients who were diagnosed as exstrophy variants at our institution between 1989 and 2000 were evaluated retrospectively. RESULTS: Out of 9 cases, 7 cases had associated malformations: EATEF, urethral atresia, absent radius, large umbilical hernia, low anorectal malformation, true diphallus with bifid scrotum, or high anorectal malformation. CONCLUSION: The high incidence of associated congenital malformations, noted in our exstrophy variant series, raises doubts about the clubbing together of the exstrophy variants with classical exstrophy. Further investigation of such cases may elucidate shared or unique causes of the dysembryogenic mechanisms in the etiologies of variants of bladder exstrophy.     

Low anorectal malformation associated with ‘ano-urethro-cutaneous’ fistula

Anorectal malformations are one of the common congenital anomalies encountered in the newborn period. The plethora of anomalies described makes it a complex subject for embryological explanations. Fistulous communications between the blind rectum and the urinary tract are common in boys with high/intermediate anomalies, but it is uncommon in children with low anorectal malformations, more so a double fistula. We are reporting a case of ‘ano-uerthro-cutaneous fistula’ associated with a low ano rectal malformation.     

Delays in the diagnosis of anorectal malformations are common and significantly increase serious early complications

Aim: To clarify the extent of delayed diagnosis of anorectal malformations and the consequences of delaying this diagnosis. Methods: We performed a retrospective case review of all neonatal admissions with an anorectal malformation to a tertiary paediatric surgery unit. A delayed diagnosis was considered to be one made 24 h or more after birth. Results: 75 patients were included in the study group: 31 (42%) had a delay in the diagnosis; 44 (58%) had no delay in the diagnosis. The time of diagnosis where a delay had occurred ranged from 2-16 (median 2) d. A delay in diagnosis could not be accounted for by differences in age, sex, birthweight, gestational age, the severity or visibility of the lesion, the need for neonatal special or intensive care, or the presence of other anomalies. There were significantly more complications (including one death) amongst the group of children who had a delay in the diagnosis of an anorectal malformation. There was no significant difference in long-term functional outcome.

Conclusion: Delays in the diagnosis of anorectal malformations are much more common than previously thought. A delay in diagnosis significantly increases the risk of serious early complications and death.     

Perineal lipomas associated with anorectal malformations

Newborns with anorectal malformations may have associated perineal lipomas. These lesions are rare but may make the repair of the anorectal malformation more complex. Knowledge about the functional consequences of these lesions is scanty. The purpose of this study was to review the experience of anorectal malformations with perineal lipomas in two Scandinavian paediatric surgical centres. Six patients with perineal lipomas and anorectal malformation treated in the two centres from 1991 to 2005 were retrospectively reviewed. Bowel function was evaluated in patients more than 4 years old. Three girls and three boys (age 4 months to 14 years) with anorectal malformations and perineal lipoma were included in the study. The boys all had high anorectal malformations with rectourethral or rectovesical fistulas. Two girls had a rectovestibular fistula and one girl had a cloaca. All patients had perineal lipomas, in one associated with an anterior meningocele. The lipomas were excised at time of anorectal reconstruction. One of the patients still has a colostomy, and two colostomies were recently closed. The bowel function was evaluated in three patients. Two patients have an ACE stoma to control constipation and soiling and one is soiling despite regular washouts. In conclusion, perineal lipomas associated with anorectal malformations are rare but may distort sphincter anatomy. Excision is best performed at time of anorectal reconstruction. Although our experience is limited, bowel function seems to be compromised by these lesions.     

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.     

Anorectal malformations associated with a presacral tumor and sacral defect

The triad of anorectal malformation, presacral mass, and sacral bony defect is quite rare. During the past 18 years, five patients with this triad were treated in our institutions. Four had covered anal or anorectal stenosis, while one infant had anorectal agenesis. There was a central defect of the sacral bone in three and sacral hemivertebrae in two patients. An additional case that had an intact sacrum but was otherwise associated with the same anomalies is also reported. In the literature, we could find 51 cases (including 5 cases of our own) that fall under this symptom complex. All patients had a presacral tumor, the commonest being teratomas and meningoceles (20 cases each). Anal or anorectal stenoses were most frequently encountered (46 cases), while malformations such as anorectal agenesis (3) or anorectal stenosis plus rectovaginal fistula (2) were seen less frequently. We therefore contend that the spectrum of this symptom complex is broader than was previously considered. Among these patients, constipation was the most common presenting symptom. Barium enema and computer tomographic studies were helpful in identifying the presence, extent, and nature of the mass. The embryogenesis is discussed, reviewing the clinical and pathological characteristics of these patients.     

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.     

Spectrum of urorectal septum malformation sequence

Urorectal septum malformation sequence (URSMS) is a rare spectrum of malformations involving various organ systems. Here, we present eight cases of URSMS, noted in autopsy, with different degrees of complexity, seven being the complete type and one being the partial type. All cases had gastrointestinal tract malformation in the form of the imperforate anus and indeterminate genitalia. Other gastrointestinal tract anomalies were anal agenesis in two cases, anorectal agenesis in two cases, and malformed lower intestinal tract in four cases. The associated renal abnormality was noted in five cases, which were unilateral renal agenesis, dysplastic kidney, hydronephrosis, horseshoe kidney, and unilateral hypoplastic ectopic kidney. External genital malformation, present in both male and female fetuses, included a knob‐like structure at perineum in female fetuses, genital fold hypoplasia and penile aplasia or hypoplasia in male fetuses. Skeletal abnormalities included two cases of sacral agenesis and one case of lumbosacral dysraphism. Other anomalies included a case with alobar holoprosencephaly, truncus arteriosus with hypoplastic lungs in one case, and three cases with abdominal wall defects. It is our attempt to delineate a spectrum of abnormalities associated with URSMS.     

Presentation of high ano-rectal malformation beyond neonatal period

Anorectal malformation is one among the common congenital malformations usually encountered. The babies usually present early after birth with complaints of missing anal opening, or abnormally placed anal opening, but some patients have presented beyond the early newborn period without recognition of their anorectal malformation. We are presenting a case of a male child with high ARM, who unusually presented first at the age of 45 days, without gross abdominal distension or septicaemia.     

Incontinence and constipation after low anorectal malformations in a boy.

BACKGROUND: Low anorectal malformations are considered to be a benign type of anorectal malformations. Their treatment is simple in the neonatal period and gives good results as far continence is concerned. METHODS: We studied a group of 55 boys with low anorectal malformations which had been surgically treated between the 1st January 1975 and the 31st December 1992. We studied the initial treatment and the associated anomalies, 5 patients have died. 27 were seen for an interview and a clinical examination. Extra investigations (anorectal manometry or electromyography of external sphincter) were only offered to consenting patients with an ongoing problem. RESULTS: 3 to 20 years had passed since their operations. Associated anomalies had been found in 11 children. The initial treatment was a perineal procedure in 20 cases and a colostomy in 8 cases. Dilatations were carried out on 11 children. Faecal and urinary continence had been acquired before 30 months of age. 13 children (48%) had problems of soiling and/or chronic constipation. There was no difference between these children and the 14 continent ones regarding the type of malformation, the initial treatment and the follow-up. Anorectal manometry (performed on 9 cases) showed 4 anorectal dyssynergies. It was normal in 3 cases. The Recto Anal Inhibitory Reflex was always present. CONCLUSION: Problems of continence are not rare in the evolution of low anorectal malformations. We suggest therefore a long-term clinical follow-up for those children, with one anorectal manometry control being performed after continence is acquired.     

Anorectal and external genitalia malformation associated with perineal hemangioma

We describe a girl with anorectal and genitourinary malformation with perineal hemangioma. Posterior sagittal anorectoplasty was performed at 21 months of age with good functional results. The hemangioma required no treatment and involuted spontaneously when the patient was 6 years old. Although anorectal malformations are frequently associated with multiple congenital anomalies, the association described herein is uncommon and we found only three similar cases reported in the medical literature.     

中国人直肠肛门畸形1262例分析

目的 了解中国人直肠肛门畸形基本状况及合并其他畸形的情况,为临床治疗提供参考资料。方法 １９８７￣１９９２年中国出生缺陷监测网以医院为基础在全国对孕２８周至产后７天的围产儿进行监测,对监测出的１２６２例直肠肛门畸形患儿进行流行病学分析。结果 中国人直肠肛门畸形的发病率为２．８１／万,全国各地发生率无显著差异,且发生率呈下降趋势。单发直肠肛门畸形５３１例,多发７３１例,其中尸解３０３例,直肠肛门畸形     

Nonfluoroscopic pressure colostography in the evaluation of genitourinary fistula of anorectal malformations: experience in a resource-poor environment

Background  Radiological imaging is paramount for defining the genitourinary fistulae commonly associated with anorectal malformations prior to definitive surgery. The imaging options are resource-limited in many parts of the world. Nonfluoroscopic pressure colostography after colostomy is a cheap method for the evaluation of anorectal malformations. Objective  To describe our experience with nonfluoroscopic pressure colostography in the evaluation of anorectal malformations in boys. Materials and methods  The study included 12 boys with anorectal malformation who had colostomy and nonfluoroscopic pressure-augmented colostography with water-soluble contrast medium between January 2006 and December 2007. Results  Patient ages ranged from 2 days to 1 year. The types of genitourinary fistula were rectovesical (7.7%) and rectourethral (92.3%). Oblique radiographs were of diagnostic value in all patients. The types of anorectal malformations were high, intermediate and low in 75%, 8.3% and 16.7%, respectively. Short-segment urethral constriction was a common feature of rectourethral fistula (75%, n=9). Conclusion  Our experience has shown that genitourinary fistulae associated with anorectal malformations can be demonstrated reliably by nonfluoroscopic pressure colostography with two oblique radiographs, providing an option in resource-poor settings where fluoroscopic equipment is scarce.     

IDENTICAL SYNDROMES OF CEREBRAL PALSY IN THE SAME FAMILY

Familial cases of cerebral palsy were traced all over Sweden. Fortythree families were collected, in 30 of which the patients were siblings. The families were divided into three groups: (1) 16 families with cases of identical syndromes and a history of normal pregnancy, delivery and perinatal period; (2) 3 families with cases of identical syndromes but an abnormal perinatal period; (3) 24 families with non-identical syndromes. Within the first group, which is of main genetic importance, 10 families were found with 2-3 siblings affected with congenital non-progressive ataxia and mental retardation, the mode of inheritance with all probability being autosomal recessive. Three families showed ataxic diplegia, two of them only in siblings, the third with affected members of both sexes represented in three generations. Surprisingly enough, pure spastic diplegia was only revealed in one family, viz. a grandfather and his grandson. Spastic tetraplegia was found in two mentally retarded siblings in an otherwise healthy sibship of 11 members. True microcephaly combined with a dystonic tetraplegic cerebral palsy was seen in one family and was thought to have an autosomal recessive inheritance as in similar cases reported in the literature. Chromosome studies and laboratory screening tests revealed no abnormalities indicating particular aetiological mechanisms.     

Anorectal malformations with sacral bony abnormalities.

A range of anorectal malformations with sacral bony abnormalities was found in members from three generations of two kindreds. The anorectal anomaly was low in all but one of the patients. Partial sacral agenesis was the main bony defect in one family, and meningomyelocele and spina bifida occulta were noted in the second. The inheritance pattern in these kinships is autosomal dominant. This may be a variant of caudal regression syndrome, which seems to be aetiologically heterogeneous.     

Familial microtia in four generations with variable expressivity and incomplete penetrance in association with type I syndactyly.

Familial microtia with external ear canal atresia and conductive deafness is rarely reported. Autosomal dominant and recessive inheritance have been suggested depending on various family reports. Cases with other malformations in addition to microtia have been described, although the microtia generally is an isolated finding. Here we report a family with microtia, external auditory canal atresia and conductive deafness in four generations. The mode of inheritance of the disease was autosomal dominant within this family. Also, variable expressivity, incomplete penetrance and generation skipping are evident in the pedigree. Association of microtia with type I syndactyly, which has never been reported previously, was present in the index case.     

Diversities of H-type anorectal malformation: a systematic review on a rare variant of the Krickenbeck classification

Congenital H-type fistula is a rare congenital rectourogenital connection with an external anal opening in a normal or ectopic position. A systematic review was done to study the anatomical types of congenital H-type fistula, embryology, clinical presentation, relative gender distribution, associated anomalies, investigative modalities, and recent advances in treatment of these lesions. A PubMed search included H-type anorectal malformation; H-type anorectal malformations; H-type anorectal; and H-type congenital anorectal that gave 9;43;76;26 abstracts, respectively. Relevant studies and cited articles were studied omitting duplicate search. The reported incidence is 0.1–16 % of all anorectal malformation. The H-type anorectal malformation is 2.5–6 times more common in females and usually associated with a normal anus. In males, the anomaly is usually a variant with an ectopic anus or a perineal fistula. Anatomical types include anovestibular; rectovestibular; rectovaginal fistula in females and rectourethral (bulbar, prostatic, bladder neck) and rectovesical fistula in males. Variants identified include H-type fistula with perineal fistula, perineal groove, H-type sinus, H-type canal, and acquired H-type fistula. This review compiles the available literature over last six decades. Various surgical corrective procedures have been described. The high recurrence decreases with a learning curve and experience.