Congenital megacolon

Classification according to ICD-10
Q43.1	Hirschsprung Disease
ICD-10 online (WHO version 2019)

The congenital megacolon ( synonym megacolon congenitum , congenital megacolon , aganglionotic megacolon , Hirschsprung's disease , Hirschsprung's disease or Hirschsprung's disease ) is a congenital disease of the large intestine from the group of aganglionoses . Nerve cells are missing in a section of the large intestine, which causes the muscles there to contract and narrow the intestine. The stool builds up in front of the constriction, causing the part of the intestine in front of it to expand (dilate).

This disease was first mentioned in 1691 by the Dutch physician Frederik Ruysch .

Name and frequency

The first systematic describer (1886) is the Danish pediatrician Harald Hirschsprung (1830–1916).

On average, this malformation occurs in 1 in 5000 children, with boys being affected significantly more frequently than girls . Hirschsprung's disease can be detected in approx. 12% of infants with Down syndrome (trisomy 21). Combinations with other malformations (e.g. cystic fibrosis , brachydactyly , colon atresia ) occur but are rare.

In 80% of cases, aganglionosis only affects the rectum and / or sigmoid colon (short-segment aganglionosis). About 5% belong to long-segment aganglionosis, in which the pathologically altered section of the large intestine is a total of 40 cm and more. In less than 5% of the cases the nerve cells are missing in the entire section of the large intestine, in this case one speaks of a Jirásek-Zuelzer-Wilson syndrome . In some cases the nerve cells are missing as far as the small intestine.

The congenital megacolon can also occur in the context of syndromes , see Mowat-Wilson syndrome .

causes

A lack of ganglion cells (aganglionosis) in the area of ​​the submucosal plexus (Meißner plexus) or myentericus (Auerbach plexus) leads to hyperplasia (excessive cell formation) of the upstream parasympathetic nerve fibers with increased acetylcholine release. This permanent stimulation of the circular muscles leads to a permanent contraction of the affected section of the intestine. The excessively formed acetylcholine is broken down by an increased acetylcholinesterase produced to compensate for this .

Late defects in neuroblast immigration, maturation disorders of immigrated neuroblasts, temporary ischemia (insufficient blood flow) of the intestine or viral infections in the embryo are possible causes. Investigations into Hirschsprung's disease revealed mutations in the so-called Ret proto-oncogene (autosomal dominant form), in the endothelin -3 gene ( EDN3 ) and in the endothelin receptor gene ( EDNRB ) (autosomal recessive form).

The multiple endocrine neoplasia type IIa may be related to the symptoms of Hirschsprung's disease. There, too, there is a mutation of the Ret proto-oncogene.

Since the disease is more common in marriages among relatives , it is above average among the Amish (USA).

impact

The circular muscles are overexcited and contract - the affected intestinal segment, usually the rectum , is narrowed . This creates an intestinal obstruction . The bowel can no longer be properly emptied, which leads to severe constipation . Due to the stool in the large intestine , the intestinal volume expands in front of the narrowed segment and the megacolon occurs . This in turn leads to complaints such as meteorism and vomiting . The accumulation of feces can lead to fecal incontinence in the sense of an overflow headache. In around 15% of patients, the megacolon shows inflammation of varying severity and sometimes also inflammation with the associated death of tissue cells by Clostridium bacteria .

Clinical signs

The symptoms mentioned, which are usually noticed within the first few days after the birth, provide the first indications. A lack of meconium discharge (Kindspech) or a meconium intestinal obstruction (otherwise typical of cystic fibrosis) can indicate Hirschsprung's disease.

The rectal examination reveals an empty rectum and a narrow anal canal .

Hirschsprung's disease is rare in adults and is noticeable for chronic constipation. The section of the intestine in which nerve cells are missing is usually very short, which is why the diagnosis of Hirschsprung's disease is made late.

Diagnosis

Aberrant nerve cells in the upper layers of the mucous membrane ( lamina propria ) of the intestine in the enzyme histochemical examination of acetylcholinesterase activity (brown color)

The suspected diagnosis results from the patient's overall symptoms ("clinical picture"), possibly supported by an anorectal (in the area between anus and rectum) manometry . A serial suction biopsy from the rectal mucosa under general anesthesia or sedation is required to confirm the diagnosis . With sufficient biopsy depth, the pathological examination in the NADH reaction can confirm the absence of ganglion cells.

Diagnostic Radiology by a colon contrast enema is usually not definitely meaningful, only the alleged extent of the changes, important for planning the series biopsies can be estimated. Enzyme histochemistry , acetylcholinesterase activity can be used to detect cholinergic malnervation of the upper mucosal layers ( lamina propria ) after the first months of life . The absence of the protein calretinin expressed in ganglion cells in immunohistochemistry can also be diagnostically helpful .

treatment

In the case of newborns, an artificial anus is usually temporarily created before an operation or the intestine is regularly flushed according to instructions or emptied as much as possible with an intestinal tube . This is pushed into the anus. The intestinal tube is currently used less and less.

As a therapy, the affected section of the intestine is surgically removed; if the aganglionic segment is very short, the permanently contracted sphincter muscle can also be incised ( sphincter myectomy ). Depending on the experience of the clinic, open, laparoscopic and transanal methods are used for the operation .

Complications

If the Hirschsprung disease is untreated, enterocolitis can occur as an inflammatory complication , which can lead to peritonitis and sepsis , among other things .

literature

• Guideline of the German Society for Pediatric Surgery on aganglionosis (Hirschsprung's disease) .
• M. Garcia-Barcelo, MH Sham, WS Lee, VC Lui, BL Chen, KK Wong, JS Wong, PK Tam: Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease. In: Clin Chem. 2004 Jan; 50 (1), pp. 93-100. PMID 14633923 , full text

Web links

• Hirschsprung's disease: Jena University Hospital very understandable, well-illustrated description (Jena University Hospital)
• Minimally invasive bowel resection or the surgery of Hirschsprung's disease through the ages at KidsDoc.at

Individual evidence

1. ^ Gerald Neitzke: Hirschsprung disease. In: Werner E. Gerabek , Bernhard D. Haage, Gundolf Keil , Wolfgang Wegner (eds.): Enzyklopädie Medizingeschichte. De Gruyter, Berlin / New York 2005, ISBN 3-11-015714-4 , p. 603.
2. ↑ Wohllk u. a .: Multiple endocrine neoplasia type 2. In: Best Practice & Research Clinical Endocrinology & Metabolism. 2010 Jun; 24 (3), pp. 371-387. PMID 20833330
3. ↑ Meier-Ruge et al. a .: Acetylcholinesterase activity in suction biopsies of the rectum in the diagnosis of Hirschsprung's disease. In: J Pediatr Surg. 1972; 7 (1), pp. 11-17. PMID 5013118
4. ↑ Barshack et al. a .: The loss of calretinin expression indicates aganglionosis in Hirschsprung's disease. In: J Clin Pathol . 2004; 57, pp. 712-716. PMID 15220363
5. ↑ Guinard-Samuel et al. a .: Calretinin immunohistochemistry: a simple and efficient tool to diagnose Hirschsprung disease. In: Mod Pathol . , 2009; 22, pp. 1379-1384. PMID 19648883

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