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Click to edit Master title style,Click to edit Master text styles,Second level,Third level,Fourth level,Fifth level,*,Hirschsprung disease,Prof.Hatem sherif,Pediatric surgery department,Ain Shams University,Background,1886,Harold Hirschsprung,1901,1904,reports of aganglionosis.,1948,correlation with pathology.,First colectomy in 1896.,Trials.,Swenson(1948).,Etiology:,Neural crest Neuroblasts first in parapharyngeal position.,Migration from 6,th,till 12,th,week.,Maturation of neuroblasts to ganglia.,Parasympathetic ganglion cells in the subserosal(Meissners),myenteric(Auerbachs)and submucosal plexus(Henles)of the rectum and/or colon.,Maturation proceeds from cephalad to caudal and from Auerbachs to Meissners.,Clinical correlates(prematurity).,Other etiologies:,Failure of maturation.,Destruction after migration.(HL II),Genetics,Multiple loci appear to be involved,including chromosomes 13q22,21q22,and 10q.,Mutations in the Ret proto-oncogene have recently been associated with multiple endocrine neoplasia(MEN)2A or 2B and familial Hirschsprung disease.,Other genes include the glial cell-derived neurotrophic factor gene,the endothelin-B receptor gene,and the endothelin-3 gene.,Epidemiology:,1/5000-8000,Male-female=4-1?,Familial?Inheritance risk 6 to 10%increase,Racial,Associations,Down 5-15%,Neurofibroma,ganglioneuroma and neuroblastoma.,Waardenburg syndrome,congenital deafness,malrotation,gastric diverticulum,and intestinal atresia.,Pathophysiology:,Manometric:failure of propagation of peristaltic wave,internal sphincter reverse reflex.,Histology:absent ganglia but however increased number of adrenergic and cholinergic nerve fibers with normal tissue content of Acetyl choline and elevated,Acetyle,choline,esterase,Other observations:,Absent vasoactive peptide.,Absent Substance P.,Absent Met encephalin.,Absent,somatostatin,.,Clinical correlation still lacking.,Presentation:,Presentation(cont),Family history,Soiling and overflow?,Early satiety,abdominal Discomfort.,Enterocolitis,?(inflammatory reaction of the bowel that presents with severe,toxeamia,and abdominal distention),Physical:,Infants:,Abd.Distention,Enterocolitis,Rarely:,Neonatal meconium plug,Perforation(peritonitis),appendicitis,Physical(cont),Children:,Chronic constipation,Dilated palpable colonic loops,PR findings,Malnutrition(classical description),Other Problems to be Considered,Meconium,plug syndrome,Neonatal small left colon syndrome,Diagnosis:,Clinical examination.,Radiographic studies.,Anorectal manometry.,Pathological exam of intestinal samples.,Sine qua non of the diagnosis is the absence of ganglion cells.,Radiography:,Plain films,Plain X-ray showed marked dilatation of colon and rectum,Plain X-ray showed marked dilatation of sigmoid colon and rectum,the ground glass appearance of retained fecal material in the dilated bowel loop is noted,Contrast study:,Single contrast:,identifying a transition zone,Recto-colonic ratio,Dilated proximal bowel.,Fore shortened colon or rounded flexures,Retention for more than 24 hrs.,Barium enema showed contracted diseased segment(thick arrow),dilatation of normal bowel segment(thin arrow)and the transitional zone(TZ),Barium enema showed contracted diseased segment,dilatation of normal bowel segment and the transitional zone at mid-rectum(lower arrow)and jejunization of the colon(upper rectum),Double contrast study shows transitional zone more clearly,Long segment H.D.with TR.Zone at splenic flexure.,Short segment H.D.with T Z at recto sigmoid,Pathology:,Gross,Microscopy:,Full thickness biopsy and staining.,Ganglion cells(arrow)are demonstrated in normal bowel segment,Only thick nerve fiber is demonstrated without ganglion cell in Hirschsprungs disease,Suction rectal biopsy is done without any anesthesia,Suction Biopsy:,Acetyl choline esterase,Normal acetylcholinesterase activity in normal specimen,Acetyl choline esterase,Increased acetylcholinesterase activity in Hirschsprungs disease,thick staining is observed in mucosa and,submucosa,layer,Differential diagnosis:,Neonates:,Necrotising,Entero,Colitis(NEC),Small left colon,Meconium plug syndrome,Simple meconium,ileus,Megacystitis-microcolon,hypoperistalsis,syndrome.,Hollow,viscus,myopathy,NID.etc,DD(continued),Older:,Functional constipation,Infrequent,large,firm stools,Pain and bleeding in anal canal,soiling,Management:,Decompression,Colonic lavage,Diversion,Operative biospy?,Primary pull through,Operative appearance,Definitive procedures:,Swenson,Definitive procedure 2,Duhamel,(modified),Duhamel,Soave,Trans Anal Soave,
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