Jirásek-Zuelzer-Wilson syndrome

The Jirásek-Zuelzer-Wilson syndrome, also Zuelzer-Wilson syndrome called aganglionosis of the intestine. Even in infancy, patients suffer from defecation problems and bloating.

What is Jirásek-Zuelzer-Wilson Syndrome?

The first symptoms of Jirásek-Zuelzer-Wilson syndrome usually appear in the first days after birth. A lack of meconium removal is characteristic.
© Sebastian Kaulitzki - stock.adobe.com

The Jirásek-Zuelzer-Wilson syndrome was named after the doctors Wolf William Zülzer, James Leroy Wilson and Arnold Jirásek. They first described the congenital and rare form of aganglionosis. Aganglionosis is the congenital lack of neurons in the wall of the intestine. The neurons are usually absent in the rectum and / or the large intestine.

The ganglion cells of the Auerbach plexus (plexus myentericus) or the Meissner plexus (plexus submucosus) are affected by the disease. Both nerve plexuses are part of the intramural or enteric nervous system and thus belong to the vegetative nervous system. The ganglia of the Meissner plexus are located in the submucosa, in the layer between the muscle layer and the mucous membrane of the intestine.

The Meissner plexus controls the secretion of the gastric and intestinal glands independently of the central nervous system. The epithelial movements of the intestine and immunological processes are also controlled by the submucosal plexus. The submucosal plexus is closely connected to the myenteric plexus. The myenteric plexus lies between the circular and longitudinal muscles in the wall of the digestive system.

It controls the peristalsis and motility of the stomach, intestines and esophagus. Just like the submucosal plexus, it acts independently of the central nervous system. However, it can be influenced in its activity via the sympathetic and parasympathetic nervous systems. In contrast to Hirschsprung's disease, Jirásek-Zuelzer-Wilson syndrome affects nerve structures throughout the colon.

causes

Aganglionosis results in excessive cell formation in the upstream nerve cells. As a result, the neurotransmitter acetylcholine is also increasingly synthesized and released. This results in constant stimulation of the circular muscles in the intestine, so that there is a permanent contraction of the respective intestinal section. Overexcitation of the circular muscles constricts the intestinal tube, causing an intestinal obstruction.

The bowel can no longer be properly emptied. Severe constipation with stool accumulation develops. The stool expands in front of the narrowed segment and a megacolon may develop.

The disease is probably based on a defect in neuroblast immigration. Neuroblasts are progenitor cells of nerve cells that can divide. In addition, the immigrated neuroblasts have maturation disorders. Temporary reduced blood flow in the intestine or viral infections in the womb are also possible causes of Jirásek-Zuelzer-Wilson syndrome.

Since the disease occurs in families, a genetic predisposition is assumed. In Hirschsprung's disease, another aganglionosis, mutations were found in the endothelin-3 gene (EDN3) and in the endothelin receptor gene (EDNRB). Hirschsprung's disease and Jirásek-Zuelzer-Wilson syndrome occur more frequently when relatives marry. Therefore, the disease is quite common, especially among the Amish in the USA.

Symptoms, ailments & signs

The first symptoms of Jirásek-Zuelzer-Wilson syndrome usually appear in the first days after birth. A lack of meconium removal is characteristic. The meconium is also popularly known as child pitch. It is the newborn's first chair. This contains exfoliated epithelium, thickened bile, hair and skin cells and is excreted in the first 24 to 48 hours after birth.

A meconium intestinal obstruction, which is actually typical for the disease cystic fibrosis, can indicate the Jirásek-Zuelzer-Wilson syndrome. Jirásek-Zuelzer-Wilson syndrome occurs rather rarely in adults. Those affected suffer from chronic constipation. Most of the time, aganglionosis affects only a very short part of the intestine in adult patients. The symptoms are not so pronounced that the diagnosis is made very late.

Diagnosis & course of disease

The suspected diagnosis can usually be made based on the clinical picture. To confirm the diagnosis, a manometry is carried out, among other things. The pressure in the area between anus and rectum is measured. A suction biopsy from the lining of the rectum can also be performed under general anesthesia.

The lack of ganglion cells can then be detected in the pathological examination of the biopsied cells. An X-ray diagnosis with an intestinal contrast agent enema is not meaningful. This examination can only assess the extent of the changes. The procedure is also important in preparation for the serial biopsy.

On the basis of the chemical analysis of enzymes, increased acetylcholinesterase activity in the first months of life and thus a cholinergic malnervation in the intestinal mucosa can be detected. Another diagnostic indication of Jirásek-Zuelzer-Wilson syndrome is the lack of the protein calretinin. This is normally expressed in the ganglion cells.

Complications

The quality of life is considerably restricted and reduced by the Jirásek-Zuelzer-Wilson syndrome. In most cases, the symptoms of Jirásek-Zuelzer-Wilson syndrome appear immediately after birth. The children suffer from digestive problems. Chronic constipation also occurs as the disease progresses.

This constipation can still be present in adulthood and thus significantly limit the everyday life of the person concerned. It is not uncommon for permanent stomach complaints to lead to psychological upset or severe depression. Stress can also increase and intensify these symptoms. Jirásek-Zuelzer-Wilson syndrome can be treated relatively well by removing the affected part of the intestine.

There are no particular complications or complaints. Likewise, inflammation in the stomach and intestines must continue to be fought. In some cases, an artificial exit in the intestine is therefore necessary, but this does not remain permanent. After the treatment there are usually no more complaints or symptoms. Jirásek-Zuelzer-Wilson syndrome does not reduce the life expectancy of those affected. It is not uncommon for the treatments to be repeated.

When should you go to the doctor?

Since Jirásek-Zuelzer-Wilson syndrome is most often diagnosed in infants or children, parents and obstetricians in particular should pay special attention to the child’s discharges. However, if adults notice sudden changes in their bowel movements, they too should undergo a comprehensive medical examination. If children have problems defecating, see a doctor. If there is no bowel movement for several days, this is a warning. To avoid further bacterial diseases or inflammation, a doctor should be consulted as soon as possible.

Infants are often in the hospital for the first few days of life and are under constant medical supervision. The first irregularities are usually discovered by the nursing staff in the infant ward, so that the child's parents do not have to take any action. If the newborn's first stool contains epidermis or hair, further examinations are necessary.

If the symptoms appear a few weeks or months after delivery, a doctor should be consulted as soon as constipation develops. Often a bloated stomach develops, which indicates existing discrepancies. If the child is in pain or has behavioral problems, a doctor's visit is required. A doctor is needed in the case of refusal to eat, apathetic or aggressive behavior, as well as whining or screaming behavior.

Treatment & Therapy

If Jirásek-Zuelzer-Wilson syndrome occurs in the newborn, an artificial anus must usually be placed at least temporarily. Alternatively, the intestine can be rinsed or emptied as completely as possible with an intestinal tube. However, the affected section of the intestine usually has to be surgically removed.

If aganglionosis affects only a very short segment of the intestine, the contracted muscle can be incised. This procedure is also known as a sphincter myectomy. Depending on the extent of the disease and the experience of the treating clinic, laparoscopic, transanal or open surgical procedures are used to treat Jirásek-Zuelzer-Wilson syndrome.

If the condition is not treated early enough, enterocolitis can develop. Enterocolitis is an acute inflammation of the gastrointestinal tract. The cause of the disease is a combination of damaged intestinal wall and infection. Tissue deterioration occurs as a result of these two factors.

In the case of severe damage, the intestinal wall can perforate, so that intestinal contents enter the abdominal cavity and cause inflammation of the peritoneum (peritonitis). Life-threatening sepsis can result.

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Outlook & forecast

The prospects for recovery or surgical relief are bleak in the presence of Jirásek-Zuelzer-Wilson syndrome. It is true that therapies and operations can bring a certain degree of relief. However, it remains difficult to surgically set up the intestinal passage so that it functions smoothly. The numerous consequences of Jirásek-Zuelzer-Wilson syndrome cannot be entirely eliminated.

The development of a megacolon or intestinal obstruction are two of the possible consequences of Jirásek-Zuelzer-Wilson syndrome. This is probably caused genetically. It therefore already occurs in infancy. The affected part of the intestine usually has to be removed. Nevertheless, enough symptoms remain so that depression, life impairments and mental disorders are not infrequently the result of Jirásek-Zuelzer-Wilson syndrome.

The lifespan is not reduced in Jirásek-Zuelzer-Wilson syndrome. But constant constipation, gastric inflammation or a temporary artificial anus, put a permanent strain on the quality of life. Enterocolitis is likely with late medical treatment. This also burdens those affected. In the worst case, peritonitis follows, which if left untreated can turn into life-threatening sepsis.

The rarity of this disease is problematic for those affected. Therefore, there are hardly any self-help groups and no exchange, unless there are patients who are also affected within the family. As a result, those affected often feel isolated. Many suffer from emotional stress and stress. After the entire colon has been surgically removed, the stress is even higher.

prevention

The Jirásek-Zuelzer-Wilson syndrome cannot be prevented because the exact mechanisms by which it develops are unknown.

Aftercare

In most cases of Jirásek-Zuelzer-Wilson syndrome, the person affected has very few or even no special measures and options for follow-up care available, so that with this disease a quick and above all an early diagnosis of the disease must be made to prevent further complications or discomfort.

Self-healing cannot occur with Jirásek-Zuelzer-Wilson syndrome, so that an early diagnosis always has a positive effect on the further course of the disease. In most cases, this disease requires surgery. After such an operation, the person affected should definitely rest and take care of their body, although stressful or physical activities should be avoided.

Likewise, fatty foods should be avoided. Since the syndrome can damage other internal organs as well, the patient should have regular examinations of the body to check the condition of the internal organs. The syndrome may also reduce the life expectancy of those affected. Often the help and support of one's own family or friends is also necessary, in particular to prevent psychological upsets or depression.

You can do that yourself

Patients with an artificial anus and a colectomy (surgical removal of the entire large intestine) may have to learn again to hold back the urge to defecate or to lengthen the intervals. Doctors and clinics provide information on how such a training can take place, but this is actually the domain of physiotherapists. They know the body, its muscles and fasciae and know which exercises strengthen which muscles and groups of muscles.

Highly fluid excretions from the anus such as mucus or blood, but also highly aggressive faeces, stress the skin; after a while it becomes sore, cracked and no longer heals. Food thickened with psyllium or psyllium husks can prevent this. So-called fecal collectors are glued between the buttocks and collect the excretions. Faecal collectors are prescribed by default for lying patients, but since they are gentle on the skin, they are a self-help worth considering. Be careful when loosening the adhesive surface - skin defects can occur here.

Jirásek-Zuelzer-Wilson syndrome is an extremely rare disease; Self-help groups for this disease are rare and therefore difficult to find. The health insurance company can be a first point of contact here. Even if no group is known there, the employees of the health insurance companies usually know alternative approaches to how such a group can be found.