TDD chez les Nouveau-nés: Signe Clinique

Introduction

• The disease of Hirschsprung is the most frequent cause of intestinal occlusion in children.
• It is characterized by the absence of ganglion cells in the submucosal and myenteric plexuses of the distal digestive tract.
• The rectosigmoid form accounts for 80% of cases.
• Early 20th century: description and etiological research commenced.
• 1691: Frederik Ruysch (Dutch): first observation of colonic dilation in a newborn.
• 1886: Harald Hirschsprung (Danish), at an annual congress of children's diseases in Berlin: precise anatomical study of two colons with congenital dilation, manifesting as chronic constipation until death.
• 1901: Tittle: description of the aganglionic segment of the distal gut (d'aval).
• 1920: Dalla Valle: role of the aganglionosis.
• 1938: Robertson and Kernohan: relationship between aganglionosis and occlusion.
• 1946: Ehrenpreis: description of the forms in newborns and infants.
• Mid-20th century: proposal of curative treatment.
• Swenson and Bill (1949): first curative surgery.
• Pellerin (1954): surgery in two stages.
• Duhamel (1956): retrorectal and transanal lowering of the functional segment.
• Soave (1963): submucosal dissection technique and transrectal lowering.
• Luis de la Torre (1998): transanal surgery.

1.Generalites

• 1.1 Definition:
• Congenital anomaly of intrinsic intestinal innervation.
• Congenital absence of Auerbach's myenteric plexus and Meissner's submucosal plexus over a variable segment of the intestine, extending from the anus.
• Megacolon: dilated colon segment, without obstruction.
• Also known as aganglionic colitis.
• 1.2 Interests:
• Epidemiology: High frequency (1 case per 5,000 births), 3.3/1 male to female ratio.
• Diagnostic:
• Histopathologic analysis of biopsies reveals absence of ganglion cells and hypertrophy of nerve fibers.
• Operative biopsies are performed.
• Noblett biopsy is generally not used.
• 1.3 Embryological reminders:
• Migration and multiplication of neuroblasts:
• 6th week: esophagus
• 7th week: inner circular layer of the midgut
• 8th week: transverse colon
• 12th week: most distal parts of the gut
• Peristaltic contractions are detectable by the 10th week.
• 1.3.1 Intrinsic innervation of the digestive tract:
• Myenteric plexus of Meissner and Auerbach's submucosal plexus.
• Cranio-caudal direction (esophagus to rectum).
• 1.3.2 Anatomical reminders:
• The colon (part of the digestive system, following the small intestine and extending from the ileocecal angle to the rectum).
• Location:
• Cecum: mobile, attached to the posterior parietal peritoneum, by Toldt's fascia. Related to the second portion of the duodenum and the right ureter posteriorly.
• Right colic angle: fixed, related to the right lobe of the liver above and the inferior pole of the right kidney behind.
• Transverse colon: mobile, touching the greater curvature of the stomach.
• Left colic angle: fixed, related to the inferior pole of the spleen.
• Descending colon: attached by the left Toldt's fascia, related to the left ureter posteriorly.
• Sigmoid colon: mobile.
• Rectum: pelvic, surrounded by a fibroserous layer, related to the sacrococcygeal junction posteriorly, urinary bladder in men and uterus & vagina in women, and the sigmoid colon laterally.
• Anal canal: surrounded by muscular and aponeurotic tissues; from top to bottom starting with pelvic aponeurosis, levator ani muscle and external anal sphincter. Related to perineal central tendon, urethra, Cowper's glands, glans in men and vagina in women.
• Ischiorectal space laterally and posteriorly.

1.3. Etiopathogenesis

• Vascular hypothesis: ischemic phenomena due to vascular anomalies of the aganglionic segment.
• Viral hypothesis: cytomegalovirus infection.
• Co-factor.
• Neuromediators: decreased VIP (vasoactive intestinal peptide) concentration in the aganglionic zone.
• Autoimmune hypothesis: increased class II major histocompatibility complex antigen expression in the aganglionic zone; increased T lymphocytes and NK cells.
• Genetic hypothesis: familial forms, increased incidence in some populations, association with chromosomal anomalies (trisomy 21), sex ratio imbalance favoring boys.
• Genes involved: Ret proto-oncogene, EDNR (endothelin receptor B) and EDN3 (endothelin 3), Sry related transcription factor (sox 10).

1.4 Anatomopathology

• Macroscopic: three zones (dilated, transition, and narrowed).
• Microscopic: Auerbach's plexus located between the circular and longitudinal muscle layers.
• Meissner's submucosal plexus; nerve cells supported by Schwann cells.
• Biopsy at Noblett (aspiration biopsy, including mucosa, submucosa and muscularis mucosae); surgical biopsies (general or local anesthesia; including mucosa, submucosa, muscularis).
• Microscopic examination of rectal biopsies: normal biopsies show submucosal plexuses with ganglion cells; diseased biopsies have scattered nerve fibers with conspicuous Schwann cell hyperplasia.

2. Signs

• 2.1 TDD: Rectosigmoid form in newborns.
• Circumstances of discovery: history begins at birth with the absence or delay (more than 48 hours) in the elimination of meconium, neonatal occlusion with distended abdomen.
• General signs: good overall impression, adequate level of consciousness, absence of dehydration and malnutrition.
• Functional signs: newboms are full-term; progressive or sudden abdominal distension accompanied or preceded by initially clear then bilious vomiting (uncommon before 48 hours).
• Physical signs: early abdominal distension; tense, sensitive; tympanitic on percussion; obligatory rectal examination with patent anal canal; explosive expulsion of gases and foul-smelling stools after releasing the finger; flattening of the abdomen.
• Rectal probe examination: use of a lubricated probe to assess the meconium and gases expelled.
• Paraclinique findings: abdominal X-rays (face or profile; air and fluid levels; granularity and sometimes meconium calcifications), and lateral X-ray (revealing the rectum and transitional zones). Absent air in the rectum is a strong indicator.
• Paraclinical findings: presence of wall pneumatosis that points at enterocolitis, with gas crescent under the diaphragm that may indicate intestinal perforation.
• Biopsy: absence of ganglion cells, presence of large, unmyelinated nerve trunks, and increased activity of acetylcholinesterase.
• Rectomanometry: reliable results become available from the third week of life; false positive and negative results can lead to rectal biopsies.
• 2.2 Clinical forms (according to age):
• Infant form: less distended abdomen, delayed meconium discharge, rectal probe tests, rectomanometry, X-rays, biopsies.
• Older child form: flattened chest due to horizontal ribs; pale and thin; palpation of hard fecal masses in the sigmoid colon; percussion that reveals a crackling sound (hydro-aerial crepitation).
• 2.2 Forms of Clinical Complication:
• Enterocolitis with explosive, foul-smelling, bloody diarrhea.
• Septicemia: severe deterioration accompanied by abdominal distension and evidence of sepsis.
• Abdominal X-rays with hydropneumatosis.
• Peritonitis: perforation of the healthy intestinal site, most commonly in the transverse colon or cecum, acute deterioration of general condition, distension, and pneumoperitoneum.
• Associated syndromes: Smith-Lemli-Opitz (SLO) for autosomal recessive polymalformative syndromes accompanied by mental retardation, genital anomalies, syndactyly, polydactyly, and facial dysmorphism; Ondine syndrome; Shah-Waardenburg syndrome; trisomy 21; renal and urinary and cardiac malformations.

3. Diagnostics

• 3.1 Positive diagnosis: normal weight newborns; intestinal meconium issues (delay, absence), abdominal distention, rectal probe examination (presence of gases/meconium), barium enema, rectal biopsy (lack of ganglion cells and plexi, increased acetylcholinesterase activity).
• 3.2 Differential diagnosis:
• Neonatal period: intestinal ileus; meconium plugs, left colon syndrome.
• Children: chronic intestinal pseudo-obstruction; pelvic tumors; colonic duplications.

4. Treatment

• 4.1 Goals: relieving the patient's suffering; removing the aganglionic segment; restoring the continuity of the digestive system; preventing and treating complications.
• 4.2 Interventions (methods):
• Medical: supportive care, nutrition, hydration, electrolytes, and antibiotics.
• Surgical:
• Temporary diversion (colostomy).
• Primary surgical corrections (Duhamel, Swenson, Soave, and de la Torre procedures); various other procedures.
• 4.3 Indications:
• Rectosigmoid forms: initial nursing treatment, then colostomy, followed by Swenson, Soave, or Duhamel surgery.
• Short forms: sphincterotomy by Lynn.
• Long forms: colostomy followed by Swenson, Soave, or Duhamel operations.
• Total forms: ileostomy followed by Lester Martin surgery.
• 4.4 Evolution of Complications:
• Early: postoperative occlusion, neo-rectal retraction, anastomosis rupture, local abscesses, submucosal prolapse, fistulas, ischemia, and infection.
• Late: constipation, strictures, fecal incontinence, diarrhea with enterolithiasis, fecal masses, urinary issues (dysuria, enuresis, and urinary incontinence, rarely).

4.5 Surveillance

• Sitz baths using Betadine (3 times per day, after every bowel movement).
• Parenteral antibiotics (5 days).
• Diet (3-5 days).
• Urinary catheterization (48 hours).
• Postoperative sphincter exercises.
• Use of bougies (from the second postoperative week).

Conclusion

• Hirschsprung's disease: rare condition; histopathology is the gold standard.
• Strict surgical management is key for good outcomes.
• Long-term follow-up is necessary.

Bibliography

• (List of references in alphabetical order)

Ce quiz explore les signes cliniques et paracliniques du TDD chez les nouveau-nés. Découvrez comment identifier les manifestations précoce et les spécificités radiologiques associées à ce trouble. Testez vos connaissances sur la condition et ses caractéristiques.