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Perineal groove is a rare anoperineal congenital malformation, usually occurring in girls, unknown to many pediatricians. We report the case of a 17-day-old girl admitted for urinary infection, who presented a wet sulcus with mucous membrane, extending from the vaginal fourchette to the anterior border of the anus. The diagnosis of perineal groove was clinically confirmed, after elimination of misdiagnosis such as infection or trauma. This benign malformation tends to be self-epithelialized in the 1st year of life, and no surgical treatment is recommended, except for cosmetic reasons or for recurrent infections. This diagnosis must be known so as to avoid unnecessary explorations and anxiogenic misdiagnosis., (Copyright © 2017 Elsevier Masson SAS. All rights reserved.)

Anorectal malformations (ARM) are the result of an abnormal development of the terminal part of the digestive tract interesting anus and/or rectum that occur early between the sixth and tenth week of embryonic development. They carry a malformation spectrum of severity depending on the level of disruption of the anorectal canal and of the associated caudal malformations (sacrum and spine). ARM are associated in over half the cases with other malformations that can be integrated in some cases in known syndromes. If surgical treatment to restore anatomy as normal as possible is indispensable, post-operative care is essential for these patients whose defecation mechanisms are altered, to reach if not continence, at least a socially acceptable cleanliness., (Copyright © 2013 Elsevier Masson SAS. All rights reserved.)

Introduction: The association of a pelvic hemangioma and malformations in the pelvic region are described as SACRAL or PELVIS syndrome. More recently, the acronym of LUMBAR syndrome has been used to describe the association of lower-body hemangioma and other cutaneous defects, urogenital anomalies, ulceration, myelopathy, bony deformities, anorectal malformations, arterial anomalies, and renal anomalies. We report herein 2 representative cases., Patients: Two girls presented with infantile hemangioma associated with genital malformation. One case was associated with spinal anomalies and the other one with the anus in the genital position., Conclusion: Segmented hemangiomas are commonly associated with extracutaneous abnormalities. By analogy with PHACE syndrome, PELVIS/SACRAL/LUMBAR syndromes describe the association of segmented hemangioma of the lower extremities associated with other trunk or lower-body malformations. The syndrome is often incomplete., (Copyright © 2011 Elsevier Masson SAS. All rights reserved.)

Purpose: The classification of anorectal malformations (ARM) as high or low is based on clinical and anatomical characteristics. It has an impact on the surgical management but also on the functional prognosis. In the absence of consensus, our goal was to determine the value of imaging in the neonatal period for diagnosis and management of infants with ARM., Materials and Methods: Retrospective study of 43 infants imaged over a 9 year period. The different imaging studies (abdominal and pelvic ultrasound, radiographs, percutaneous opacifications and fistulograms) performed for each infant were collected and analyzed then correlated to clinical and surgical findings., Results: Clinical evaluation could classify 30 ARM as low and 4 ARM as high while 9 ARM without fistula remained indeterminate. Imaging findings were mixed: on ultrasound, the rectal cul-de-sac to perineum distance did not appear to be determinant, contrary to published data. Pelvimetry showed limitations, irrespective of the technique. Morphological evaluation provided the following data: presence of fistula, sphincter anatomy, rectal cul-de-sac to perineum distance., Conclusion: Classification relies on clinical evaluation in most cases. Opacification techniques and ultrasound remain useful in some cases. MRI could become the preferred imaging modality.

The authors report a case of partial Currarino syndrome in a three and a half year old child with a left hemisacrum agenesis and a presacral mature teratoma. The special aspect of the observation was the apparition of repetitive polymicrobial purulent meningitis (Escherichia coli, Streptococcus B, Haemophilus influenzae) treated several times with non-specific antibiotics without normalization of CSF, particularly the CSF glucose, which remained low, justifying the use of an antimycobacterial treatment, especially since there was no local or general cause explaining the relapse. During a relapse of meningitis after ten months of antituberculosis treatment, the teratoma was discovered by a spine MRI done to detect any cerebrospinal defect. The authors insist on the fact that the Currarino syndrome must be investigated in case of repetitive purulent meningitis after ruling out the usual causes of meningitis.

We report the case of a 3 year old boy with a combination of anorectal malformation, sacral agenesia and anterior meningocele (Currarino's triad) and provide a review of the literature of this rare syndrome.

Unlabelled: 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.

Study Aim: The aim of this study was to report the results of unilateral Pickrell procedure in children with fecal incontinence secondary to anal atresia., Patients and Method: Twenty three children were operated between 1975 and 1997. The mean age at the time of the operation was 8.5 years. Functional results were systematically evaluated by Kelly's clinical score and by anal sphincter electromyography and anal manometry for some patients., Results: There was no postoperative mortality. One colostomy was performed for recurrent local sepsis. The functional result with a mean follow-up of 6 years was estimated to be good in 25%, intermediate in 45% and poor in 30%. Clinical improvement of continence was obtained in 70% of cases., Conclusion: The improvement of continence after Pickrell procedure essentially depends on the patient selection criteria, pre- and postoperative rehabilitation and regular enemas. In the case of poor results, the authors propose bilateral Pickrell procedure which improved the results in eight out of nine children in this group.

Background: Townes-Brocks syndrome (TBS) is a rare autosomal dominant entity mainly characterized by ano-rectal, ear and extremities abnormalities with variable clinical expression., Case Reports: The first case had ear and extremities, but not anorectal, abnormalities; a Pierre-Robin sequence with esophageal atresia was also observed. The second case had the classical triad of abnormalities also associated with tetralogy of Fallot which has been only once reported in the literature., Conclusions: Both cases are other examples of the frequent clinical variability observed in this syndrome explaining diagnostic difficulties in the absence of a specific marker.

Of 152 patients with imperforate anus, 16 girls -25%), 10 boys (15%) have an abnormality of the genital tract and real frequency seems underevaluated. In girls, vaginal septum, bicornuate and didelphys uterus are mostly diagnosed, associated with severe unilateral upper urinary tract malformations. Absent vagina and uterus (Rokitansky syndrome) must be seen at birth, to preserve perineal fistula used to fashion a vagina at the time of the abdomino-perineal fistula pull through. In boys hypospadias, ectopia and uretero-vas anastomosis are the most frequent malformations.

The Currarino triad consists of an anorectal malformation, a presacral tumor and a sacrum defect. A new case is reported in a female neonate. The diagnosis was suspected because of delayed emission of meconium associated with an occlusion syndrome. It was confirmed by bone imaging, ultrasonography and magnetic resonance imaging. A colostomy was performed on day 7 then closed on day 43 after several rectal dilation were carried out. A presacral lipoma was operated on at 10 months. The 56 cases reported in the literature are reviewed.

The authors presented various data with respect to the frequency (431 cases) of anorectal malformations associated to urogenital abnormalities (26 to 56%). They also indicated the frequent association of these anomalies with a lumbosacral vertebral malformation (28%). The higher the anomaly, the more serious the condition.

Report of the observation of a female newborn presenting a complex malformative set: distal anorectal malformation without fistula; bladder exstrophy without epispadias, with cutaneous bridge; congenital urethrovaginal fistula; malformative sexual ambiguity with bulky genital tubercle, whole urethra, urethral meatus on the apex of the genital tubercle, associated with a mid labial genital joint and a high genital orifice; unilateral multicystic kidney; vertebral abnormalities with supernumerary thoracolumbar vertebrae; no karyotype abnormalities and no familial pathological history; no endocrine abnormalities. The therapeutic multistage program permitted a good reconstruction of the different lesion, particularly with bladder functioning witch in hope a good continence with two years of follow-up. No similar case is reviewed in the literature.

The authors present a series of 8 cases of congenital anorectal stenosis treated recently, with a follow up of 1 to 7 years. The finding of 3 poor results from the standpoint of anal continence leads to a discussion of the general prognosis of this malformation classically considered as being benign.

In the so-called "cat-eye" syndrome are associated the following malformations: coloboma iridis, anal atresia, pre-auricular fistullae with an extra 47th chromosome of the G group type. About twenty cases have already been reported. Some are familial cases and some have the complete phenotype but without the extra chromosome. Even if the structure of the material of this element is doubtful, its responsability in the phenotype is likely. This case is reported since the patient has pituitary dwarfism and normal intelligence.

Manometric and electromyographic analysis of anorectal function in terminal gastrointestinal tract malformations is a technique which gives an insight into the specific pathophysiology of anorectal malformations and can be used to follow the clinical evolution and to analyse the maturation phenomena of the lowered colon. It includes the study of spontaneous sigmorecto-anal activity associated with a way of examining the anorectal response to stimuli (adaptation, reaction, relaxation reflexes of the internal anal sphincter, rectal compliance, continence reaction, measure of critical volume and lastly the anorectal profile). This study can be completed by electromyography of striated anorectal sphincter structures. Some values for normal anorectal continence and partial or complete incontinence can be calculated after review of the literature.

Anorectal malformations are accompanied by associated anomalies in about 75%; their frequency and variety influence prognosis and survival rate. All kinds of associated anomalies are possible, but there are some typical combinations (like the Vater-association). In our series of 67 neonates (43 low and 24 high or intermediate atresias) we observed 64% of associated anomalies. They were more frequent in high or intermediate atresias (21 out of 24 cases). A low birth weight which is typical for this group affects the prognosis as well as the associated anomalies. 11 out of our 67 patients (= 16%) died; 11 of these weighed less than 2,500 g, and 3 even less than 1,800 g. Prematurity was the reason for the death of 4 neonates, 7 died because of associated anomalies.

Eighteen patients with ano-rectal malformation were studied by computered tomographie (1 low malformation, 9 intermediates, 6 high malformations and 2 cloacale malformations). There is no indication of this technic during neo-natal period. Computered tomographie is more important for analysis of the sequel because the appreciation of the pull through digestive segment is better. However, perineal muscles are more difficult to evalue, because there is not objective criterion.

High level ano-rectal anomalies were evaluated by Magnetic Resonance Imaging (MRI) in 15 patients. One neonate and two infants were evaluated preoperatively. Sagittal slices identified properly the blind rectal end in the 3 cases. Associated anomalies (tethered spinal cord, right ectopic kidney in 1 case, recto-urinary fistula in another case, upper excretory dilatation in 2 cases) were found during the same examination. In the post-operative period (12 cases), major data were obtained on axial transverse slices. When pulled-through intestine is outside the levator sling, re-do-surgery can be indicated. MRI appears as an accurate tool to assess these anomalies.

Certain forms of severe constipation, unresponsive to medical treatment and classified as "idiopathic", have been thought to be anatomical anomalies due to anterior-displacement of the anus. The difficulty in defecation varies with the anal anomaly: this may range from passing of feces every 3-4 days to sub-occlusion episodes due to obstruction of the rectum from phecaloma and with sign of malnutrition, anemia and hypotrophy. Anatomically the anomaly is characterized by an anterior positioning of the anus which deviates the terminal part of the rectum in a horizontal plane creating a "cul-de-sac" which arrests normal fecal advancement. Fecal stasis in the rectal ampulla leads to an increase in the distensibility of the rectum with loss of the normal stimulus to defecate and contractile activity. Diagnosis is made by physical examination, barium enema (which reveals the rectal "cul-de-sac" and the distension of the colon) and ano-rectal manometry to rule out Hirschsprung diseases. The authors report their experience with 11 cases of anterior displacement of the anus, presenting a simple surgical treatment and the favorable results.

Of 131 patients with imperforate anus, 16 girls (25%), 10 boys (15%) have an abnormality of the genital tract and real frequency seems under evaluate. In girls, vaginal septum, bicornuate and didelphys uterus are mostly diagnosed, associated with severe unilateral upper urinary tract malformations. Absent vagina and uterus (Rokitansky syndrome) must be seen at birth, to preserve perineal fistula used to fashion a vagina at the time of the abdomino-perineal pull through. In our 3 cases upper urinary tract was normal. In boys, uretero-vas deferens anastomosis must be documented by vesiculo-deferentography when orchi-epididymitis or unilateral renal agenesis is demonstrated.

Attainment of continence after treatment of supra-levatorian ano-rectal malformations is frequently hampered by difficult problems. Cinedefecography and particularly conventional manometry along with myography allow to analyse the different factors involved in incontinence, in connection on the one hand with the type of gut pulled-down, and on the other hand with the sphincteric system. This study allows to propose, under specific circumstances, suitable techniques aiming at modifying either the gut contents, or the properties of the pulled-down bowel, or to reinforce the spincters, particularly with biofeedback rehabilitation techniques.

42 observations of imperforate anus with recurrent recto-urethral or rectovaginal fistula are summarized. The results are divided in early good results: 32 cases and poor results 10, all re-operated one or more times; at long term, were obtained 39 good, 2 poor results and one with short follow-up. Two factors may determine the recurrence of fistula: earlier post-surgical infection, and technique of rectal dissection.

Eight children with high or intermediate anorectal malformations and fecal incontinence after primary repair were operated according the Pickrell technique. In 3 patients, the result of the Pickrell plasty was clinically not sufficient and the opposite gracilis muscle was used in addition at a second operative session. The 8 children were studied clinically, radiologically, by electromyography and manometry. The results are presented in detail. All 8 patients had a good passive continence at rest, but an active physiological continence could not be achieved. This seems to be due mainly to the absence of the internal anal sphincter, but partially also to the incomplete or even lacking adaptation of the pulled through bowel, which showed a relative hyperactivity and did not function as a neorectal reservoir. Some therapeutic measures to overcome the problems due to the fact that we deal at the same time with smooth and with striated muscles are discussed in the limelight of the present study.

The persistent cloaca is one of the most complex and challenging developmental malformation. It is a rare anomaly occuring only in the female newborn and represented by the association of a urogenital sinus with an anorectal malformation. We report here three cases seen and recently treated in Montpellier (France) in the unit of visceral pediatric surgery (Pr J.G. Pous) between 1981 and 1983. A precise knowledge of normal embryology is very helpful in order to understand these complex anatomical situations. Every case is probably unique, but some main principles of management can be stressed. Neonatal loop colostomy is probably safer in most cases and can allow temporizing until the child is 6 months to 1 year of age. Interim management is often needed: intermittent catheterisation of the bladder and/or urine-filled vagina via the uro-genital sinus, avoiding urinary diversions, except possible temporary supra-pubic cystostomy. Definitive reconstruction is often a long and complex procedure, strictly dependent on absolutely thorough radio-endoscopic pre-operative investigations. It is vital to know exactly the length of the cloacal canal and of the urethra, because surgical reconstruction will vary according to the level at which the various structures converge. Cloacas represent a wide anatomic spectrum: as the severity of the defect increases, there is urogenital sinus with anterior anus ("Near cloacal malformation"), low and high confluence of all three systems. The goal of surgery is to perform in a single operation, the separation of the different conduits and to preserve all the sphincteric mechanisms for urinary-anal continence and genital functions.(ABSTRACT TRUNCATED AT 250 WORDS)

The aim of the radiological exploration of an infant born with an ano-rectal malformation is the definition of the level and the type of the anomaly. At first a lateral abdominal roentgenogram is performed in an head-down position. The relation of the rectal cul-de-sac to the levator ani muscles is determined by its relation to the bony landmarks of the pelvis as reported by Stephens and Cremin. A real time perineal sonography is a useful complement, and permits the recognition of the same landmarks sought for by X-Ray. The research of a perineal or urinary fistula is performed at that time. In a second time, the research of associated malformations, mainly vertebral and urinary, is done.