Hirschsprung’s disease, the past and the present

Hirschsprung’s disease,the past and the present Dr.Dávidovics Sándor Petz A.County Teaching Hospital Department of Paediatric Surgery Győr

Hirschsprung’s disease • One in 5000 live births • Male-to-female ratio of 4:1 • In 90 % are mature newborns • In 1-6 % are familial • In 10%-30% are associated anomalies

Hirschsprung’s disease • To rectosigmoid in 75% • Short segment (rectum) • Ultra short (part of the rectum) • Long segment • Total aganglionosis (large intestine, sometimes a part of small intestine) up to 10% • Segmental

Hirschsprung’s disease Embriology • Migration of neuroblasts on the 5-7 g.week • On the 12. g.week they reach the rectum • Myenteric plexus • Submucous plexus • Ganglions • The process of maturation continues after the birth

Hirschsprung’s disease • Innervation • adrenergic • cholinergic • Nonadrenergic and noncholinergic -pepdidergic -nitrergic -nerve-supporting cells -interstitial cells in Cajal

Hirschsprung’s disease Histopathology • Absence of ganglionic cells • Hypertrophic cholinergic nerve trunks • Limited number of adrenergic fiber

Hirschsprung’s disease Clinical symptoms • The disease can considered to be incomplete intestinal obstruction • The lenght of the aganglionic segment is variable • The symptoms are variable too • The symtoms appears in different ages

Hirschsprung’s disease Symptoms in newborn age • Fail to pass meconium (in 24 hours of life) • Abdominal distension, but the abdomen is palpable • Vomiting • The rectal tube can’t be put easily • After irrigation the signs and symptoms return again in a few days

Hirschsprung’s disease Symptoms in newborn age(enterocolitis) • Life-threatening condition • Diarrhea: it can be an early sign • Toxic megacolon • Abdominal distension • Bile-stained vomiting • Fiver and signs of dehydration • Rectal tube:explosive expulsion of gas and foul-smelling stools

Hirschsprung’s disease Symptoms in infants • Constipation • Meteorism • Palpable faecaloma • Sometimes putrescent diarrhea • Ulceration, bleeding • Hypoproteinaemia, anaemia • Electrolyt disorders

Hirschsprung’s disease Symptoms in childhood • Gracile limbs • Dilated drumlike belly • Long history of constipation • Defecation in 7-10 days • Multiple fecal masses • The stimulus of defecation is missing • Rectum is empty and narrow

Hirschsprung’s disease

Hirschsprung’s disease Examinations • Plain abdominal radiographs • Contrast enema • Anorectal manometry • Rectal biopsy,histopathology

Hirschsprung’s disease • Plain X ray: air/fluid levels,free air • Contrast enema: -Narrow distal segment -Funnel-shaped transition zone -Dilation of proximal colon -After 24-48 hours the contrast material is in the bowel -Mucosal irregularity (enterocolitis)

Hirschsprung’s disease Anorectal manometry • Anorectal pressure is elevated • No relaxation of the internal sphincter • It can be put through safely in newborn age as well

Hirschsprung’s disease Biopsy and Histology • Full-thickness strip-biopsy • Suction biopsy

Nitrergic innervation pattern(light microscopy, x100) Normal colon Hirschsprung’s disease

Nitrergic innervation pattern(light microscopy, x100) Hirschsprung's disease Total intestinal aganglionosis

Hirschsprung’s disease Treatment: • Decompression: introduce a rectal tube and irrigation • Colostomy • Definitive procedures • Closing of the stoma

Hirschsprung’s disease Treatment Transanal Endorectal Pull-Trough • It can be performed safely in infant as well • Generally one-stage surgery • No abdominal phase • The anastomosis is happening in a „safe” place at the pectinate line

Hirschsprung’s disease Long-term outcome • If started in time, under adequate treatment is good.

Past Operation in 2 or 3 steps Pull-through on the afunctional bowel Strip-biopsy Stoma-wearing Nursing,dilatations Higher possibility of complcations Present Operation in 1 step - Pull-through the functional gut Suction biopsy No stoma - No dilatation Smaller possibility of complications Summary

Past Long hospitalisation High input /operations,medicines/ Free stoma tools Travelling support Long-term financial support of goverment Harder social integration /kidergarten,school/ Present Short hospitalisation Small input No stoma Less controll examination The support can be extinguished earlier Easy social integration Summary

Thank you for your attention !

Hirschsprung’s disease, the past and the present