A rare anorectal malformation: a very large H-type fistula

A very large H-type rectovaginal fistula was observed in a 9-year-old girl. The diameter of the abnormal opening was about 15 mm. The fistulous tract originated from the stenotic segment 1 cm above the pectinate line of the anus and was connected to the back wall of the vagina. The patient underwent posterior sagittal transrectal surgery with a protecting colostomy. At present, she has good bowel function and sphincter control without recurrence of the fistula. Accepted: 19 December 2000     

Concurrent Hirschsprung’s disease and anorectal malformation: a systematic review

Hirschsprung’s disease (HSCR) and anorectal malformation (ARM) are often associated with other congenital malformations, but the association of each other is rare. Some studies have reported the incidence of HSCR associated with ARM ranging from 2.0 to 3.4%. The purpose of this study was to update the current epidemiological and therapeutic features of this rare congenital association. A systematic literature search for relevant articles was performed in four databases using a combination of the following terms “association of Hirschsprung’s disease and anorectal malformation”, “aganglionosis and anorectal malformation” and “congenital megacolon and anorectal malformation” for studies published between 1952 and 2019. Reference lists were screened for additional cases. Forty-three studies met the defined inclusion criteria, reporting a total of 126 patients who were diagnosed with HSCR with ARM. Thirty articles reported 42 single case reports of this association. Twelve articles reported 66 cases of HSCR in case series of 3309 ARM patients, resulting in an incidence of 2% of this association. Associated syndrome was found in 25 cases (20%): Currarino syndrome in 11, Down syndrome in 8, Cat eye syndrome in 4 and Pallister–Hall syndrome in 2 patients. Extent of aganglionosis was reported in 62 cases: short or rectosigmoid aganglionosis was reported in 44, long segment aganglionosis in 8, total colonic aganglionosis in 9 and total intestinal aganglionosis in 1 case. Although the association of ARM and HSCR is rare, the incidence of HSCR among ARM cases seems to be higher than in the general pediatric population. There was a high incidence of coexistence of ARM and HSCR with severe associated syndromes.     

Covered exstrophy associated with an anorectal malformation: A rare variant of classical bladder exstrophy

We report the case of a male newborn with covered bladder exstrophy, high anorectal malformation, and rectourethral fistula. The child had a split symphysis and diverging rectus muscles in the infraumbilical region. The ventral part of the bladder was covered with thin, fragile skin and some portions of the bladder bulged out as abdominal-wall hernias. Two of these hernias were located just above the penis, and the overlying skin showed a resemblance to scrotal skin. The penis was small and slightly laterally displaced, but otherwise normal; the child also had unilateral reflux into a dysplastic left kidney. The bladder neck and posterior urethra were patulous, but there was no urinary incontinence. The child underwent a singlestage reconstruction of the exstrophic lesion and a staged repair of the anorectal malformation. The clinical significance of this entity is discussed and the literature reviewed.     

The influence of anorectal malformations on fertility: a systematic review

Purpose

This systematic review aims to give an overview of available evidence concerning the influence of anorectal malformations (ARM) on fertility.

Methods

We conducted a search in PubMed, EMBASE and Cochrane Library conformed to the PRISMA standards. All studies reporting on fertility and ARM were included.

Results

2,905 studies were identified. Based on title, abstract and full text, nine articles on 429 patients remained to answer the research question. Childbirth rate was the only reported outcome parameter to describe fertility. An overall childbirth rate of 27 % (range 0–57 %) was found. Mean age at time of study ranged from 23 to 35 years. There was no statistical significant difference in childbirth rate between female and male patients, based on seven studies (p = 0.45). Patients with a more complex type of ARM (imperforated anus without fistula, rectourethral bulbar and prostatic fistulas, rectobladderneck fistulas and cloacal malformations) had a lower childbirth rate compared to healthy controls, whereas in patients with a less complex ARM (rectoperineal or rectovestibular fistula) the childbirth rate was similar to healthy controls. Patients with a more complex type of ARM had a significant lower childbirth rate than patients with a less complex type of ARM (18 vs 47 %, respectively) (p = 0.0001). When further dividing these patients by gender, this difference was only seen in female patients (p = 0.04).

Conclusion

In patients with a more complex type of ARM a lower childbirth rate was found compared to healthy controls and patients with a less complex type of ARM. The latter was only seen in female patients. However, conclusions concerning fertility in ARM patients have to be taken with caution due to limited quality of the studies. Further investigation is recommended.     

A neonate with anorectal malformation with rare limb defects report of a case

A 2-day-old male infant, born of a non-consanguineous marriage and uneventful pregnancy was found to have anomalies of vertebral, anal, cardiac, tracheo-esophageal, radial and limb (VACTERL) association. The striking feature was the simultaneous occurrence of two rare limb defects of right upper and lower limb in the baby who also had imperforate anus and ventricular septal defect. These limb defects were-meromelia of the right upper limb (due to transverse deficiency of right humerus and absence of all the bony elements distally), and a short right lower limb due to co-existence of proximal femoral hypoplasia and fibular hemimelia. We could not trace the co-existence of these rare skeletal defects in any case with VACTERL association in the existing English literature, as was observed by us. The simultaneous occurrence of the defects involving distant anatomic sites supports the hypothesis of ‘axial mesodermal dysplasia’ in our patient, rather than ‘caudal regression syndrome’, as is popularly held in patients with anorectal malformation (ARM). Further, it points to occurrence of an early embryonic insult, probably taking place at blastogenic stage, when the developing embryo can be considered a polytopic development field. However, in absence of antenatal history suggestive of exposure to a known teratogen and a chromosomal analysis, it appears that the spectrum of anomalies in this neonate might have resulted secondary to early amniotic leak and temporary oligohydramnios.     

Isolated hypoganglionosis: systematic review of a rare intestinal innervation defect

Purpose  

Isolated hypoganglionosis (IH) is rare and resembles Hirschsprung’s disease. The diagnosis by suction biopsy is difficult. A full-thickness biopsy is essential. Histological features of IH include sparse, small myenteric ganglia, low acetylcholinesterase activity in the lamina propria, and hypertrophy of muscularis mucosae and circular muscle. This review investigates the epidemiology, symptoms, diagnosis, and outcome of patients with IH.     

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.     

Pseudoexstrophy of the bladder: a rare variant

A 15-day-old female presented with a healed omphalocele and a triangular musculoskeletal defect in the hypogastric area similar to the defect seen in classic bladder exstrophy. The bladder was normal on exploration. The defect was successfully closed using a bilateral anterior pubic ramotomy. Only ten cases of pseudoexstrophy have been reported in the world literature.     

Covered exstrophy: a rare variant

A case of covered exstrophy without sequestration of a bowel segment is reported. A 4-year-old female presented with dribbling of urine. Treatment to date has been simple excision of the covered membrane with functional closure of the bladder and bilateral posterior iliac osteotomies, with reconstruction of the bladder neck and genitalia to be performed at a later date. The embryogenesis of this rare variant, a review of the reported cases, and management options are discussed. Accepted: 6 November 1997     

Diagnostic clues to avoid pitfalls in the management of rare association of anorectal malformation with ileal atresia

A full-term,2700 g,one-day-old baby presented with imperforate anus,bilious vomiting and abdominal distension.Physical examination,ultrasonography abdomen and echocardiography revealed no associated congenital anomalies.     

Laparoscopic-assisted divided colostomy for anorectal malformation case series: a description of technique,clinical outcomes and a review of the literature

Objective

To present a case series of pediatric patients who underwent a laparoscopic-assisted divided colostomy for anorectal malformations, describe our technique, and provide a review of the literature on laparoscopic-assisted colostomy in pediatric patients.

Methods

We performed a retrospective review of six patients born with anorectal malformations, who received a laparoscopic-assisted colostomy from 2012 to 2016 at Cardinal Glennon Children’s Medical Center.

Results

The average operating time was 74.5 min. Laparoscopic colostomy types included divided (n?=?5) and end colostomy with Hartmann’s (n?=?1). Location of the colostomy was selected just distal to the descending colon (n?=?5) or at the sigmoid flexure (n?=?1). Feeds and stoma production was achieved within 24 h from surgery in most patients. There were no major complications except one patient having a mucosal fistula prolapse that was easily reduced.

Conclusions

Laparoscopic-assisted colostomy in the management of anorectal malformations is a safe and effective technique. It offers similar advantages of the open technique, with the added benefits of avoiding wound-related complications and improved cosmetic results.

     

A rare association of diphallus,colonic duplications,ileal atresia,and an anorectal malformation

Diphallus is a rare congenital anomaly that is often associated with various other anomalies of the midline structures of the posterior portion of the body. We report a unique case of a 1-day-old male with complete diphallus, incomplete bilateral tubular duplications of the colon, ileal atresia, and an anorectal malformation.     

Dorsal bony septum: a split cord malformation variant

Split cord malformations (SCMs) are rare spinal anomalies and their classification is still a matter of debate. There is no widespread consensus on the embryological basis of this entity. The unified theory, proposed by Pang et al. [Neurosurgery 1992;31:451-480], was an attempt to explain the embryogenetic mechanism as a basic error occurring around the time when the primitive neuroenteric canal closes. We report two unusual cases of SCMs with a dorsally situated bony spur. We analyzed the radiological, clinical and surgical features of the lesions and were not able to classify these cases according to the unified theory. Further embryological studies should be conducted to elucidate the mechanisms of occurrence of these lesions, and the dorsal bony septum variant should be considered in SCM surgery.     

Congenital malformation syndromes associated with peripheral neuroblastic tumors: A systematic review

Malformation syndromes with predisposition to peripheral neuroblastic tumors (pNT), including neuroblastoma, ganglioneuroblastoma, and ganglioneuroma, may provide clues to critical mutations influencing pNT development. Our objective was to identify and characterize features of pNT associated with specific malformation syndromes. A systematic review of the literature was performed using MEDLINE, Scopus, and Web of Science. We identified 154 of 1014 papers that met eligibility, comprising 207 cases. The patient's age, tumor histology, and frequency of multiple primary tumors varied by malformation syndrome. Genomic studies and systematized reporting are necessary to elucidate cancer risk and the distinct clinical and biological pNT patterns within syndromes.     

Ossification centers of the pediatric elbow: a rare normal variant

A 7-year 9-month-old boy sustained a transcondylar humeral fracture during a fall. Radiographs revealed a trochlear ossification center without evidence of a medial epicondylar center. This combination, although apparently quite rare, should be recognized as a normal variant.