Embryologie des Malformations Ano-Rectales

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Questions and Answers

Quelles sont les trois zones de l'intestin primitif présentées dans le développement embryologique normal?

Intestin primitif antérieur, intestin primitif moyen, intestin primitif postérieur (correct)

Intestin primitif supérieur, intestin commun, intestin rectal

Intestin distal, intestin proximal, vésicule ombilicale

Intestin primitif dorsal, intestin primitif ventral, canal vitellin

Quelle est la fonction principale de l'intestin primitif postérieur?

Développer l'intestin distal

Produire le canal vitellin

Participer à la formation du sinus uro-génital (correct)

Clôturer le cloaque

À quel moment de l'embryogenèse se produit le cloisonnement du cloaque?

4ème semaine de grossesse

7ème semaine de grossesse (correct)

10ème semaine de grossesse

12ème semaine de grossesse

Qu'est-ce qui provoque des imperforations membraneuses dans l'embryologie des MAR?

Persistance de la membrane anale Signup and view all the answers

Quel est le résultat d'une fusion incomplète de la cloison uro-rectale?

Communications entre le système urogénital ou peau Signup and view all the answers

Quel est le rôle principal de la réanimation pré et per opératoire mentionné dans le traitement?

Assurer une hydratation adéquate Signup and view all the answers

Quelle est la définition la plus appropriée de la malformation ano-rectale?

Anomalies congénitales interrompant la continuité du tube digestif Signup and view all the answers

Quelles sont les options chirurgicales pour les fistules ano-vaginales chez la fille?

Proctoplastie type Y-V de PELLERIN Signup and view all the answers

Quel muscle fait partie du mécanisme de la continence normale du rectum ?

Muscle ilio-coccygien Signup and view all the answers

Quel est le taux de fréquence des malformations ano-rectales à la naissance?

1/5000 naissances Signup and view all the answers

Quelle procédure est associée à une MAR basse sans fistule?

Proctoplastie par lambeau en Y de PELLERIN Signup and view all the answers

Quelle affirmation est correcte concernant l'innervation du rectum ?

Elle inclut la sensibilité recto-anale. Signup and view all the answers

Quelle affirmation sur la prédominance des malformations ano-rectales est correcte?

Elles prédominent chez les garçons Signup and view all the answers

Quel antibiotique est préconisé pour l'intervention chirurgicale?

Ceftriaxone 500mg Signup and view all the answers

Quel système est responsable de la résistance du passage des selles ?

Système résistant Signup and view all the answers

Quel est le pronostic fonctionnel associé aux malformations ano-rectales?

Incontinence fécale Signup and view all the answers

Quelle estimation de montant de solution est indiquée pour la réanimation?

100ml/kg Signup and view all the answers

Quel facteur n'influence pas le contrôle de la continence ?

Tonus musculaire de la langue Signup and view all the answers

Quelle méthode a été la première largement utilisée selon l'historique des traitements des malformations ano-rectales?

Trocardisation Signup and view all the answers

Quels sont les signes cliniques associés aux malformations ano-rectales?

Formes cliniques variées selon l'âge Signup and view all the answers

Parmi les muscles suivants, lequel est strié et participe à la motricité volontaire du sphincter ?

Sphincter externe strié Signup and view all the answers

Quel est le rôle principal des muscles releveurs de l'anus ?

Maintenir la continence Signup and view all the answers

Quel est l'intérêt épidémiologique des malformations ano-rectales?

Identification des cas pour un meilleur diagnostic Signup and view all the answers

Quelle fonction le système capacitif du rectum remplit-il ?

Contrôle l'adaptabilité du rectum Signup and view all the answers

Quel est le rôle d'un invertogramme dans le diagnostic des malformations ano-rectales?

Évaluer la continuité du tube digestif Signup and view all the answers

Quels muscles participent à la motricité involontaire du sphincter interne ?

Muscles lisses uniquement Signup and view all the answers

Quel organe présente un rôle dans la continence urinaire d’urgence?

Sphincter externe Signup and view all the answers

Quelle est la réponse motrice à la sensation de plénitude rectale?

Relaxation du sphincter interne Signup and view all the answers

Quel signe clinique indique une obstruction néonatale?

Absence d’émission méconiale Signup and view all the answers

Quelle est la triade fonctionnelle classique d’une occlusion néonatale?

Distension abdominale, absence d’émission méconiale, vomissements verts Signup and view all the answers

Quelle anomalie est associée à une interruption de la continuité digestive?

Fistule recto-urinaire Signup and view all the answers

Quel type de fistule relie le rectum à la peau du périnée?

Fistule cutanée ou périnéale Signup and view all the answers

Quels signes sont caractérisants d’une méconiurie?

Presence de méconium dans l'urine Signup and view all the answers

Quel est un facteur aggravant lors d'une occlusion néonatale?

Séquestration liquidienne Signup and view all the answers

Quels sont les signes généraux associés à une déshydratation consécutive aux vomissements ?

Pli cutané persistant Signup and view all the answers

Pour quelle raison l'imagerie est-elle utilisée dans la recherche de malformations associées ?

Pour mettre en évidence une éventuelle fistule Signup and view all the answers

Quel est le but de l'invertogramme réalisé à 12h de vie ?

Visualiser l'ampoule rectale Signup and view all the answers

Qu'est-ce qu'une ponction trans-périnéale du cul-de-sac à l'aiguille fine permet de réaliser ?

Une opacification avec un produit iode Signup and view all the answers

Quel examen est systématique en cas de MARH pour rechercher une fistule ?

Cystographie rétrograde Signup and view all the answers

Quel est l'objectif principal de l'urogénitographie dans le cas de cloaque ?

Examiner les relations entre vessie, utérus et rectum Signup and view all the answers

Quel signe physique peut indiquer une absence d'orifice anal ?

Distension abdominale tympanique Signup and view all the answers

Dans quel cas une fistulographie est-elle appropriée ?

Lors de malformations gastro-intestinales Signup and view all the answers

Study Notes

Presentation Title

Topic: Ano-rectal Malformations (MAR)
Presenter: OUEDRAOGO Judion
Degree: DES II in General Surgery
Supervisor: Pr OUEDRAOGO Isso

Objectives

Define MAR
Explain the pathophysiology of fistula formation in MAR
Establish a positive diagnosis
Interpret the Invertogram
Provide treatment guidelines for MAR

Plan

General Information
- Definition
- Interest
- Historical background
- Embryological review
- Anatomical review
- Physiology
- Physiopathology
- Signs
- Types of Disease (TDD)
- Clinical Forms
Diagnostic
- Positive Diagnosis
- Differential Diagnosis
Treatment
- Goals
- Methods and Resources
- Indications
Conclusion
Bibliography

General Information - Definition

Congenital anomalies
Partially or completely interrupting the terminal portion of the digestive tract
Modifying its topographical characteristics

General Information - Interest

Epidemiological
Prevalence: 1 in 5000 births
Predominance: male

General Information - Historical Background

Known since antiquity
Treated by trocarization and successive dilations
1835: Amussat performed the first proctoplasty
1982: Pena and De Vries synthesized PEC Forms for MAR

General Information - Embryological Review

The primitive digestive tube has three zones
- Anterior intestine
- Middle intestine, connected to the umbilical vesicle by the vitelline duct
- Posterior intestine (1/3 distal of the colon, transverse colon, descending colon, sigmoid colon, rectum, upper part of the anal canal)

General Information - Embryological Review (Continued)

The posterior intestine participates in the formation of the urogenital sinus
The posterior part opens into the cloaca, which receives the allantoid diverticulum
The cloaca extends into the caudal intestine (post-natal)

General Information - Embryogenesis (Ano-Pelvi-Rectal)

4th and 10th gestational weeks
3 stages:
- Formation of the cloaca and primary perineum (4th week)
- Cloaca segmentation (7th week)
- Anal canal canalization (10th week)

General Information - Embryology of MAR

Membranous perforations: Persistence of the anal membrane
Covered anus: Fusion of the anogenital folds forward
Urogenital or skin communications: Incomplete fusion of the urogenital and rectal partitions

General Information - Anatomical Review

Rectum
Sigmoid Colon
Anal Ampulla
Anal Canal
Ano-cutaneous Junction

General Information - Sphincteric Apparatus

Sphincter internus
Sphincter externus

General Information - Vascularization

Superior mesenteric artery
Inferior mesenteric artery
Common Iliac artery
Internal Iliac artery
Middle sacral artery

General Information - Innervation

The control of continence involves several components

General Information - Physiology- Continence Mechanism

Puborectal muscle
Iliococcygeus muscle
Ischiococcygeus muscle
Pubococcygeus muscle
Internal smooth muscle
External striated muscle

General Information - Physiology- Continence Mechanism (Continued)

Rectal-anal sensitivity
Voluntary motor control (external sphincter and levator ani muscles)
Involuntary motor control (internal sphincter)
Coordination (rectosigmoid motility)

General Information - Physiology - Other Factors

Rectal adaptability
External pressure: Pelvic floor and intra-abdominal pressures
Intrinstic pressures: Pelvic floor and two sphincters

General Information - Physiology - Systems.

Capacity system (rectums ability to adapt to its content)
Resistance system (anal canal's resistance to passage of stools, basal tone, defecation efforts).

General Information - Physiology- Resistant Organ

Internal sphincter: Permanent pressure barrier
External sphincter: Emergency continence
Levator ani muscles: Maintains anorectal angulation

General Information - Defecation

Cortical centers sense rectal fullness and need
Relaxation: Internal or recto-anal inhibitory reflex
Conscious and voluntary contraction of the external sphincter and puborectal muscle
Stools are stopped at the upper part of the anal canal

General Information - Pathophysiology

Interruption of digestive continuity: obstruction of meconium expulsion
Partial: Fistula
- Skin of the perineum
- Vulva or vagina
- Recto-genital fistula
- Blatter or urethra
- Recto-urinary fistula
Total: Neonatal occlusion
- Absence of meconium emission
- Abdominal distension
- Vomiting (green mucus)
- Fluid sequestration
- Microbial overgrowth
- Hypovolemic and septic shock

General Information - Signs

TDD: MAR/recto-urinary fistula in a male newborn
CDD variables
- Neonatal perianal examination
- Parent's account: Absence of anus
- Functional triad in newborns
  - Absence of meconium emission
  - Abdominal distention
  - Bilious vomiting

General Information - Signs (Continued)

General signs:
- General state deterioration
- Fontanelle depression
- Persistent skin fold, secondary to vomiting
Physical signs:
- Abdominal distension
- Collateral venous circulation
- Absence of an anal opening
Physical Signs (Continued)
Search for related abnormalities: urogenital and spinal cord

General Information - Signs (Para-clinical)

Imaging
- Precise anatomical type
- Identification of possible fistula (urinary, vaginal, or perineal)
- Detect associated abnormalities.
- Visualize the rectal ampulla
- Precise the level of rectal cul-de-sac

General Information - Signs (Para-clinical)- Imaging (Invertogram)

Performed 12 hours after birth
Child in head-down position for at least 5 minutes
Knees bent at 90°
Placement of a metallic marker on the anal fossa
Locate the position of the rectal cul-de-sac in relation to the levator ani muscles and anal fossa.

General Information - Signs (Para-clinical)- Opacifications

Fistulography
Colostography

General Information - Signs (Para-clinical) - Ponction Opacification

Perineal area without fistula
Transperineal puncture of the cul-de-sac with a fine needle under fluoroscopic guidance
Opacification with a soluble iodine product

General Information - Signs (Para-clinical) - Additional Imaging Techniques

MRI of the perineum
CT of the perineum
Retrograde cystography

General Information - Signs (Para-clinical) - Additional Imaging Techniques (Continued)

Urography
Preoperative endoscopy

General Information - Signs (Para-clinical) - Additional Assessment

Ultrasound and MRI of the kidneys, to detect abnormalities.
Ultrasound and MRI of the spinal cord, search for dysraphism, low spinal cord, presacral mass, compatible with Currarino syndrome.
Echocardiography
Karyotype study, in case of suspected genetic abnormalities

General Information - Signs (Biological)

Complete blood count (CBC)
Blood typing and Rh factor
Blood electrolytes
Blood urea nitrogen (BUN) and creatinine
Assessment of renal function

General Information - Evolution (Non-Treated)

Continuous abdominal distension
Vomiting (green)
Fluid sequestration
Bacterial overgrowth (origin)
Hypovolemic and septic shock

General Information - Clinical Forms

Symptomatic forms
- Occlusive forms (without fistulae)
- Insufficient fistulae
- Non-occlusive forms (sufficient fistula caliber)
  - Stools are softer
Anatomical (high) forms
- Male: anorectal atresia, recto-urinary fistula
- Female: anorectal atresia, recto-vaginal fistula
Anatomical (intermediate) forms
- Male: anal atresia, recto-bulbar fistula
- Female: anal atresia, recto-vestibular fistula
Anatomical (low) forms
- Male: perineal fistula.
- Female: anal stenosis, perineal fistula

General Information - Clinical Forms (Continued)

Cloacal forms
- Short cloaca, low MAR (communicating colon < 3cm)
- Long cloaca, low MAR (communicating colon > 3cm)

General Information - Associated Malformations

VACTERL association
- Vertebral anomalies
- Anorectal anomalies
- Cardiac anomalies
- Tracheal anomalies
- Esophageal anomalies
- Renal anomalies
- Limb anomalies
Pallister-Hall syndrome
Pallister-Killian syndrome

General Information - Associated Malformations (Continued)

Currarino syndrome
MURCS association
- Müllerian duct anomalies
- Renal and/or reproductive tract anomalies
- Cervical and thoracic organ abnormalities

General Information - Chromosomal Abnormalities

"Cat Eye" syndrome (chromosome 22 duplication/inversion)
Coloboma of the iris

Diagnostic - Positive Diagnosis

Lack of an anus or abnormal anus in the perineum
Recto-urinary fistula in males, recto-vaginal in females

Diagnostic - Imaging

ASP Wagensteen-Rice
Direct or fistulographic opacification of the rectal cul-de-sac

Treatment - Goals

Save the patient's life
Emptying stools
Restructuring the anorectal or anocutaneous continuity
Achieve socially acceptable anal continence
Preventing and treating complications

Treatment - Medical Means

Hospitalization
Peripheral intravenous line
Urinary and/or gastric catheterization
Pre- and post-operative fluid and electrolyte replacement (100 ml/kg)
Analgesics: paracetamol (15 mg/kg every 6 hours)
Antibiotic: ceftriaxone (80 mg/kg daily)

Treatment - Medical Means (Continued)

Vitamin K1
Patient warming

Treatment - Surgical Means - Temporary

Principles: Temporary diversion of the digestive tract
Colorectal resection
Performed Neonatally
Location: Transverse or sigmoid colon
Positioning: Horizontal line through the umbilicus, away from the costal margin and iliac crest

Treatment - Surgical Means - Temporary (Continued)

Advantages: Life-saving
Covers future surgical repair
Distal cologram to aid in determining exact location of fistula.
Reduces risk of prolapse
Disadvantages: Parent acceptance issues.

Treatment - Surgical Means - Definitive

Principles: Rectal lowering to its presumed anatomic level
Preservation of rectal vascularization
Creation of a new anus (neoanus) or (anoplasty)

Treatment - Surgical Techniques - Anoplasties

Joining the rectal cul-de-sac to the skin
Creation of a neoanus with an anocutaneous flap, via a perineal approach.

Treatment - Surgical Techniques - Anorectoplasties

Types of approaches
- Pure perineal
- Abdominopelvic
- Laparoscopic
Examples:
- Pellerin Y-V anoplasty
- Hendren anoplasty
- Santulli anal transposition
- Denis Brown cut back anoplasty
- Leape anoplasty
- Nixon anoplasty -Douglas sacroperineal anorectoplasty -Mollard anorectoplasty -Sagittal posterior anorectoplasty(Vries)

Treatment - Indications for Specific Cases

Low MAR with fistula
- Perineal fistula in both sexes
- Pellerin Y-V proctoplasty
- Anorectal fistula in females
- Pellerin proctoplasty
Intermediate or high MAR without fistula
- Colorectal resection and temporary colostomy
- Sacroabdominal decompression, Stephans technique
- Perineal or abdominopelvic decompression, Mollard technique
- Sacropelvic posterior anorectoplasty(Pena)

Treatment - Indications for Specific Cases (Continued)

Intermediate/high MAR with recto-vaginal/urinary fistula
- Colorectal diversion (colostomy)
Anal placement
- "Y-V" Pellerin anoplasty by lambeau.
Low MAR without fistula
- Pellerin Y anoplasty by lambeau.

Treatment - Post-operative Follow Up

Antibiotic prophylaxis (3-5 days)
Follow-up (10-15 days)
Local antiseptics
Anal dilation with Hégar bougies (10-15 days)

Treatment - Post-operative Follow Up (Continued)

Colorectal anastomosis (3 to 6 months)

Treatment - Complications:

Early/late secondary complications
- Urological (urinary fistula, urethral stenosis, ureteral damage, damage to the vas deferens)
- Digestive (anal stenosis, anorectal mucosal eversion)
- Genital (vaginal stenosis)
Late complications
- Fecal incontinence
- Episodes of soiling
- Constipation
- Psychological and social issues

Conclusion

Early MAR diagnosis is critical.
Multidisciplinary approach in specialized settings
Parental counseling (limitations for social continence with some compromises)
Varying surgical techniques based on MAR type
Good prognosis for life and acceptable function

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Description

Ce quiz teste vos connaissances sur l'embryologie des malformations ano-rectales. Il aborde les différentes zones de l'intestin primitif, la fonction de l'intestin postérieur et les interventions chirurgicales possibles. Préparez-vous à répondre à des questions sur les aspects embryologiques et cliniques liés à ces malformations.