Gastroenterology Book

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Hirschsprung's Disease

Aka: Hirschsprung's Disease, Hirschprung's Disease, Congenital Aganglionic Megacolon, Congenital Megacolon, Aganglionosis
  1. Definition
    1. Enteric dysganglionosis condition
  2. See Also
    1. Pediatric Constipation
  3. Epidiomology
    1. Incidence: 1 in 5000 to 8,000 live births
    2. Male to female ratio: 3:1 or 4:1
  4. Causes
    1. Genetic (Family History in 3-7% of cases)
      1. RET-proto-oncogene (Chromosome 10q11.2) related
      2. Associated with Multiple Endocrine Neoplasia IIa
      3. Increased risk with affected sibling
        1. Boys with sibling affected: 3-5%
        2. Girls with sibling affected: 1%
        3. Cild's sibling with entire colon affected: >12%
    2. Environmental factors
    3. Intrauterine Intestinal Ischemia or infections
  5. Pathophysiology
    1. Ganglion cells absent from part or all of the colon
      1. Lack of intramural Ganglionic cells
        1. Submucosa level (Meissner's Plexus)
        2. Myenteric level (Auerbach's Plexus)
      2. Aganglionic region begins at anus, extends proximally
        1. Distance proximal to Pectinate Line exceeds 4 cm
      3. Involved distal colon fails to relax
      4. Results in progressive Functional Constipation
    2. Congenital defect at 4-12 weeks gestation
      1. Neuroblast migration interrupted
      2. Ganglion cells fail to migrate via neural crest
    3. Lack of innervation
      1. Hypertonic bowel results in functional stenosis
      2. Partial or complete colonic obstruction
      3. Proximal Intestine markedly dilated with feces, gas
  6. Types
    1. Short-segment Hirschprung's Disease
      1. Limited to rectosigmoid colon
      2. More mild than long segment disease
      3. Diagnosis may be delayed into early childhood
    2. Long-segment Hirschprung's Disease
      1. Involves regions proximal to rectosigmoid
      2. In the most severe cases, may involve entire colon
  7. Associated Conditions
    1. Bladder diveticulum
    2. Congenital deafness
    3. Cryptorchidism
    4. Down's Syndrome
    5. Hydrocephalus
    6. Imperforate anus
    7. Meckel's Diverticulum
    8. Neuroblastoma
    9. Primary Alveolar Hypoventilation (Ondine's Curse)
    10. Renal agenesis
    11. Ventricular Septal Defect
    12. Waardenburg's Syndrome
    13. Pheochromocytoma
    14. Meningomyelocele
  8. Presentations: Age
    1. Early: Newborn
      1. No meconium in 24-48 hours of birth (90% of cases)
    2. First month of life
      1. Progressive abdominal distention
      2. Small caliber stools (pencil-thin)
      3. Infrequent, explosive Bowel Movements
      4. Failure to Thrive due to poor feeding
      5. Bilious Emesis
      6. Jaundice
    3. Two to three months of life
      1. Enterocolitis (fever, explosive bloody Diarrhea)
        1. Initial presentation in one third of patients
    4. Older Childhood
      1. Chronic progressive Constipation
      2. Failure to Thrive or malnutrition
      3. Fecal Impaction
      4. Abdominal distention
      5. Recurrent despite enemas, Laxatives, feeding changes
  9. Presentation Patterns
    1. Presentation soon after birth
      1. Complete Obstruction
      2. Emesis
      3. Failure to Pass Meconium in first 24 hours (90%)
    2. Repeated Bowel Obstruction
      1. Emesis
      2. Dehydration
      3. Delayed meconium passage
    3. Persistent mild Constipation
      1. Suddenly develops obstruction
      2. Distention
      3. Emesis
    4. Diarrhea followed by obstruction
      1. Fever
      2. Enterocolitis
    5. Persistent mild Constipation
      1. Never completely obstructs
  10. Signs
    1. Distended Abdomen
    2. Palpable loops of bowel
    3. Rectal exam
      1. Tight anal sphincter
      2. Rectal exam without stool in ampulla
      3. Explosive release of feces and flatus may follow exam
  11. Imaging
    1. Abdominal XRay
      1. Massive colon distention with gas and feces
      2. Air-fluid levels may be present
      3. Air in bowel wall suggests enterocolitis
    2. Non-prepped Barium Enema
      1. Contraindicated if enterocolitis suspected
      2. False negative tests are common
      3. Dilated colon proximal to aganglionic region
      4. Spastic transitional segment
        1. Irregular saw-toothed outline
      5. May be best seen on lateral view
      6. Barium may be retained in proximal bowel >24 hours
  12. Diagnostics
    1. Anal manometry
      1. Shows lack of internal anal sphincter relaxation
      2. Involves internal anal sphincter on rectal distention
    2. Rectal suction biopsy (>1.5 cm above Dentate Line)
      1. Absence of Meissner, Auerbach's Ganglion plexuses
      2. Marked hypertrophy of nerve trunks
  13. Differential Diagnosis
    1. See Neonatal Constipation Causes
    2. See Failure to Pass Meconium
    3. Functional Constipation
      1. Onset at over age 12 months
      2. Meconium passed in first 24 hours of life
      3. Normal growth
      4. Normal rectal exam
  14. Management
    1. Pre-surgery maintenance
      1. Serial rectal irrigation decreases bowel distention
    2. Surgery
      1. Mild to moderate cases (e.g. short-segment disease)
        1. Ilioanal pull-through anastomsis
      2. Severe cases (e.g. enterocolitis)
        1. Colostomy for 6 months and then ileoanal procedure
    3. Post-Surgery
      1. Maintain high Dietary Fiber
      2. Monitor for enterocolitis despite surgery
  15. Complications
    1. Untreated
      1. Bowel rupture
      2. Enterocolitis (up to 50% of cases)
        1. May occur 2-10 years after surgery
    2. Post-Surgical
      1. Constipation (10%)
      2. Fecal Incontinence (1%)
  16. Prognosis
    1. Early diagnosis results in best prognosis
    2. Before surgery (without recognition and treatment)
      1. Mortality: 50%
    3. After surgery
      1. Early complications: 30%
      2. Late complications: 39%
      3. Mortality: 2.4%
        1. Increased in Down's Syndrome
        2. Increased in child under age 4 months
        3. Increased if postoperative obstruction
      4. Permanent ileostomy: 0.8%
      5. Permanent colostomy: 0.5%
  17. References
    1. Coran (2000) Am J Surg 180:382-7 [PubMed]
    2. Kessman (2006) Am Fam Physician 74(8):1319-22 [PubMed]
    3. Hussain (2002) Pediatr Clin North Am 49:27-51 [PubMed]
    4. Worman (1995) Am Fam Physician 51(2):487-94 [PubMed]

Hirschsprung Disease (C0019569)

Definition (MSHCZE) Vrozené onemocnění, při němž nedochází k dostatečnému uvolnění (ochabnutí) střeva na přechodu esovité kličky do konečníku s následným hromaděním střevního obsahu v tlustém střevě. Příčinou je chybění nervových buněk ve stěně příslušného úseku střeva. Léčba je chirurgická. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )
Definition (NCI) A congenital disorder characterized by the absence of myenteric ganglion cells in the distal colon. It results in a functional stenosis of the distal colon and a massive distention of the proximal colon.
Definition (MSH) Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON.
Definition (CSP) abnormally large or dilated colon due to congenital absence of myenteric ganglion cells in a distal segment of the large bowel; resultant loss of motor function in this segment causes massive hypertrophic dilatation of the normal proximal colon; condition appears soon after birth; called also Hirschsprung's disease, aganglionic megacolon and pelvirectal achalasia.
Concepts Congenital Abnormality (T019) , Disease or Syndrome (T047)
MSH D006627
ICD10 Q43.1
SnomedCT 204739008, 156957008, 204738000, 6687001, 204744001, 204742002, 360436002, 367495003
English Congenital Megacolon, Disease, Hirschsprung, Hirschsprung Disease, Hirschsprung's Disease, Hirschsprungs Disease, Megacolon, Congenital, Disease, Hirschsprung's, MEGACOLON CONGENITAL, Congenit aganglionic megacolon, Hirschsprung's disease NOS, HIRSCHSPRUNG DIS, HIRSCHSPRUNGS DIS, CONGEN MEGACOLON, MEGACOLON CONGEN, pelvirectal achalasia, aganglionic megacolon, aganglionic megacolon (diagnosis), Pelvirectal achalasia, Megacolon congenital, Hirschsprung disease, Congenital (aganglionic) megacolon, Hirschsprung Disease [Disease/Finding], diseases hirschsprung, hirschsprungs disease, Megacolon;congenital, disease hirschsprung, Disease;Hirschsprungs, megacolon congenital, hirschsprung disease, disease hirschsprungs, disease hirschsprung's, hirschsprung's disease, congenital megacolon, macrocolon (diagnosis), Megacolon, Aganglionic, Aganglionic Megacolon, Macrocolon (finding), Hirschsprung's disease NOS (disorder), Hirschsprung's disease, Congenital megacolon, Macrocolon, Aganglionic megacolon, Aganglionosis, Congenital aganglionic megacolon, HD - Hirschsprung's disease, Congenital megacolon (disorder), Hirschsprung's disease (disorder), Macrocolon (disorder), Hirschsprung, congenital; megacolon, macrocolon, megacolon; congenital, aganglionosis, Hirschsprung's disease [Ambiguous], Hirshsprungs disease, Hirschsprungs disease
French MEGACOLON CONGENITAL, Achalasie pelvi-rectale, Mégacôlon aganglionique, Mégacôlon aganglionnaire, Mégacôlon congénital, Maladie de Hirschsprung
Portuguese MEGACOLON CONGENITO, Megacólon aganglionar, Acalasia pelvirrectal, Megacólon congénito, Doença de Hirschsprung, Megacolo Congênito
Spanish MEGACOLON CONGENITO, Megacolon agangliónico, Acalasia pelvirrectal, enfermedad de Hirschprung (concepto no activo), enfermedad de Hirschprung, enfermedad de Hirschsprung, SAI, enfermedad de Hirschsprung, SAI (trastorno), aganglionosis, enfermedad de Hirschsprung (trastorno), enfermedad de Hirschsprung, macrocolon (trastorno), macrocolon, megacolon aganglionar congénito, megacolon aganglionar, megacolon congénito (trastorno), megacolon congénito, Megacolon congénito, Enfermedad de Hirschsprung, Megacolon Congénito
Dutch aganglionair megacolon, congenitaal megacolon, ziekte van Hirschsprung, pelvirectale achalasie, congenitaal; megacolon, megacolon; congenitaal, megacolon, congenitaal, Hirschsprung-ziekte, Megacolon, congenitaal, Ziekte van Hirschsprung, Ziekte, Hirschsprung-
German aganglionaeres Megakolon, Megakolon kongenital, pelvirektale Achalasie, MEGAKOLON ANGEBOREN, Hirschsprung-Krankheit, Megacolon congenitum, Morbus Hirschsprung, kongenitales Megakolon
Italian Megacolon agangliare, Acalasia rettopelvica, Megacolon aganglionico, Megacolon congenito, Morbo di Hirschsprung, Malattia di Hirschsprung
Japanese 神経節欠損性巨大結腸, 骨盤直腸アカラシア, センテンセイキョダイケッチョウ, ヒルシュスプルングビョウ, シンケイセツケッソンセイキョダイケッチョウ, コツバンチョクチョウアカラシア, アガングリオノーシス, 結腸神経節細胞欠損症, 巨大結腸症-先天性, Hirschsprung病, 先天性巨大結腸症, ヒルシュスプルング病, 結腸症-巨大先天性, 先天性巨大結腸
Swedish Hirschsprungs sjukdom
Czech Hirschsprungova nemoc, Rektopelvická achalázie, Vrozené megakolon, Aganglionání megakolon, Kongenitální megakolon, megacolon congenitum
Finnish Hirschsprungin tauti
Russian AGANGLIOZ TOLSTOI KISHKI VROZHDENNYI, GIRSHSPRUNGA BOLEZN', MEGAKOLON VROZHDENNYI, АГАНГЛИОЗ ТОЛСТОЙ КИШКИ ВРОЖДЕННЫЙ, ГИРШСПРУНГА БОЛЕЗНЬ, МЕГАКОЛОН ВРОЖДЕННЫЙ
Korean 히르쉬스프룽병
Polish Choroba Hirschsprunga, Okrężnica olbrzymia wrodzona, Wrodzona okrężnica olbrzymia
Hungarian Pelvirectal achalasia, Hirschsprung-betegség, Veleszületett megacolon, Megacolon congenitum
Norwegian Hirschsprungs sykdom, Kongenital megakolon, Medfødt megakolon, Kongenitt megakolon
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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