Hirschsprung´s disease
Richard Škába
Hirschsprung´s disease
Congenital intestinal aganglionosis of myenteric and submucosal plexuses
Hirschsprung´s disease (H.d.) – genetic studies
90% cases sporadic with multifactorial type of heredity
Recent genetic studies suppose localisation of H.d. Gen on long arm of the 10th chromozome
Suggested types of the heredity in H.d.
Hirschsprung´s disease - pathologic anatomy
Congenital absence of ganglionic cells of myenteric and submucosal nervous plexuses
Meier-Ruge, 2005
Hirschsprung´s disease - pathophysiology
Aganglionic,
spastic, intestinal segment
Sphincteroachalasia
of internal anal sphincter
Holschneider,Puri 2008
Incidence: 1:5000 live newborns
Sex ratio Male / Female až 4 : 1 (classic form )
Hirschsprung´s disease
Normal birth weight Minimal incidence
of associated malformations Heredity up to 5 - 10 %
Total colonic aganglionosis Classical type Ultrashort, low type
Types of Hirschsprung´s disease
Clinical symptoms within the first days of life.
Delayed passage of meconium is the cardinal symptom.
Progressive neonatal bowel obstruction Ischemic enterocolitis is a dangerous complication !
Hirschsprung´s disease - clinical aspects
Newborns and sucklings
Preschool children
Chronic constipation, Abdominal distension,
Malnutrition, Failure of thrive
Hirschsprung´s disease - clinical aspects
Older children and adults
Chronic constipation
Mostly complicated by colonic perforation
Hirschsprung´s disease - clinical aspects
Hirschsprung´s disease - diagnosis
Anorectal manometry
Hirschsprung´s disease - diagnosis
Plain vertical abdominal radiograph
Barium Enema
Hirschsprung´s disease - diagnosis
Magnetic Resonance Imaging
Intestinal biopsy is a final diagnosis of H.d.
Absence of
ganglionic cells in intestinal wall
Hirschsprung´s disease - diagnosis
Intestinal malrotation and meconium ileus
Differential diagnosis
Treatment
Treatment of Hirschsprung´s disease is surgical so far
Surgery has to be performed imediately at the time of the diagnosis
Exceptions are TCA ( total colonic aganglionosis)
and excessive aganglionosis up to jejunum
Treatment of classical form of Hirschsprung´s disease
Resection of aganglionic bowel segment Partial sphincteromyectomy of internal anal sphincter
Colo ano(rectal) anastomosis
Swenson Duhamel Soave
normal defecation sphincteroachalasia
Total colonic aganglionosis
Treatment of Hirschsprung´s disease
Treatment of Hirschsprung´s disease
Total colonic aganglionosis – surgical technique
Martin, Side-to-side
anastomosis, 1968 Shermeta colonic patch,1989 Martin- Swenson
Ultrashort low segment
Treatment of Hirschsprung´s disease Ultrashort- low segment
Parcial sphincteromyectomy of internal anal sphincter according Lynn
Miniinvasive surgery in Hirschsprung´s disease
Transanal resection ( TAR )
Disorders of neural crest development
Various clinical presentations
Endocrine, neurologic, dermatologic, gastrointestinal disorders, other syndroms
Malformations Neurocristopathies
Neurocristopathies - Boland clasiffication (1982)
A. Simple neurocristopathies
Dysgenetic
Hirschsprung´s disease Albinism
Mandibulofacial dysostosis Otocefalia
Neoplastic
Neuroblastoma Feochromocytoma
Medular thyroid carcinoma (MTC) Melanotic progonoma
Nonchromafinic paraganglioma Carcinoids
B. Complex neurocristopathies
Neurofibromatosis (von Recklinghausen disease) Multiple endocrine neoplasia typ 1 (MEN1)
Multiple endocrine neoplasia typ 2A (MEN 2A) Multiple endocrine neoplasia typu 2B (MEN 2B) Neurocutaneos melanosis
Familial neuroblastoma with Hirschsprung´s disease
Neurocristopathies - Boland classification (1982)
-Localisation of H.d. Gen 10q11.2
-RET = REarranged during Transfection -21 exons, 55 kb
- codes tyrosine kinase receptor
MEN 2
Clinical application
Implementation of the RET proto-oncogene screening to detect MTC in patients with Hirschsprung´s disease and
their relatives
Risk of association of H. d. and Medullary Thyroid Carcinoma(MTC)
MTC
Screening of the RET proto - oncogene in detection of MTC risk in patients with H.d.
Evident risk of MTC in patients with H.d. ranges 5 – 7 % Mostly in patients with TCA
