Jirásek -Zuelzer-Wilson syndrome, also known as Zuelzer-Wilson syndrome, is an aganglionosis of the intestine. Patients already suffer from problems with defecation and bloating in infancy.
What is Jirásek-Zuelzer-Wilson Syndrome?
According to homethodology.com, the first symptoms of Jirásek-Zuelzer-Wilson syndrome usually appear in the first few days after birth. A lack of meconium is characteristic.
Jirásek -Zuelzer-Wilson syndrome was named after physicians Wolf William Zülzer, James Leroy Wilson, and Arnold Jirásek. They were the first to describe the congenital and rare form of aganglionosis. Aganglionosis is the congenital absence of neurons in the wall of the intestine. The neurons are usually absent in the rectum and/or colon.
The disease affects the ganglion cells of the Auerbach plexus (plexus myentericus) or the Meissner plexus (plexus submucosus). Both nerve plexuses are part of the intramural or enteric nervous system and thus belong to the autonomic nervous system. The ganglia of the Meissner plexus lie in the submucosa, in the layer between the muscular layer and the lining 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 the motility of the stomach, intestines and esophagus. Just like the submucosal plexus, it acts independently of the central nervous system. However, its activity can be influenced by the sympathetic and parasympathetic nervous system. In contrast to Hirschsprung’s disease, nerve structures throughout the colon are affected in Jirásek-Zuelzer-Wilson syndrome.
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, resulting in a permanent contraction of the respective section of the intestine. Overexcitation of the circular muscles constricts the intestinal tube, resulting in an intestinal obstruction.
The bowel can no longer be emptied properly. Severe constipation with faecal obstruction develops . Due to the faecal obstruction, the intestine expands in front of the narrowed segment and a megacolon may develop.
The disease is probably based on a defect in neuroblast migration. Neuroblasts are progenitor cells of nerve cells that are capable of dividing. In addition, there are maturation disorders in the immigrated neuroblasts. Temporary reduced blood flow to the intestines or viral infections in the womb can also be causes of Jirásek-Zuelzer-Wilson syndrome.
Since the disease tends to run in families, a genetic predisposition is assumed. Mutations in the endothelin-3 gene (EDN3) and in the endothelin receptor gene (EDNRB) were found in Hirschsprung disease, another aganglionosis. Hirschsprung’s disease and Jirásek-Zuelzer-Wilson syndrome occur frequently in marriages between relatives. Therefore, the disease is particularly common among the Amish in the United States.
Symptoms, Ailments & Signs
The first symptoms of Jirásek-Zuelzer-Wilson syndrome usually appear in the first few days after birth. A lack of meconium is characteristic. The meconium is also popularly called Kindspech. This is the newborn’s first chair. This contains desquamated 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 is rare in adults. Those affected suffer from chronic constipation. In most adult patients, only a very short part of the intestine is affected by aganglionosis. The symptoms are not so pronounced, so the diagnosis is made very late.
Diagnosis & course of disease
The suspected diagnosis can usually be made on the basis of the clinical picture. Among other things, a manometry is carried out to confirm the diagnosis. The pressure in the area between the anus and the rectum is measured. A suction biopsy from the mucous membrane of the rectum can also be performed under general anesthesia.
The absence of the ganglion cells can then be demonstrated in the pathological examination of the biopsied cells. An X-ray diagnosis with an intestinal contrast medium enema is not meaningful. This study can only assess the extent of the changes. The procedure is also important in preparation for the serial biopsy.
The chemical analysis of enzymes can be used to demonstrate increased acetylcholinesterase activity in the first few months of life and thus cholinergic innervation in the intestinal mucosa. Another diagnostic clue to 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 significantly 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 also be present in adulthood and thus significantly restrict the everyday life of the person concerned. It is not uncommon for lasting discomfort in the stomach to lead to mental upsets or severe depression. Stress can also increase and exacerbate 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. Inflammation in the stomach and intestines must also continue to be combated. In some cases, an artificial outlet on the intestine is therefore necessary, which, however, 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 the person affected. The treatments often have to be repeated.
When should you go to the doctor?
Since Jirásek-Zuelzer-Wilson syndrome is diagnosed in most cases in infants or children, parents and obstetricians in particular should pay special attention to the child’s waste. However, if adults notice sudden changes in bowel movements, they too should undergo a comprehensive medical examination. If children show problems with emptying the stool, a doctor’s visit is necessary. If there is no bowel movement for several days, this is considered a warning. To avoid further bacterial diseases or inflammation, a doctor should be consulted as soon as possible.
Babies are often in the hospital in the first few days of life and are under constant medical supervision. The first irregularities are usually already discovered by the nursing staff in the baby ward, so that the child’s parents do not have to take any action. If the newborn’s first stool contains skin epithelium or hair, further investigation is necessary.
If the symptoms only appear a few weeks or months after delivery, a doctor should be consulted as soon as constipation occurs. A bloated stomach often develops, which indicates that there are discrepancies. If the child is in pain or exhibiting behavioral problems, a doctor’s visit is required. If you refuse to eat, if you appear apathetic or aggressive, you need a doctor as well as if you are crying or screaming.
Treatment & Therapy
If the Jirásek-Zuelzer-Wilson syndrome occurs in the newborn, an artificial bowel outlet must usually be placed, at least temporarily. Alternatively, the bowel can be rinsed or emptied as completely as possible with a bowel tube. However, the affected section of bowel usually has to be surgically removed.
If only a very short segment of the intestine is affected by the aganglionosis, 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, enterocolitis may develop. Enterocolitis is an acute inflammation of the gastrointestinal tract. The cause of the disease is a combination of damaged intestinal wall and infection. As a result of these two factors, tissue destruction occurs.
In the case of severe damage, the intestinal wall can perforate, so that intestinal contents get into the abdominal cavity and cause inflammation of the peritoneum (peritonitis). Life-threatening sepsis can result.
Outlook & Forecast
The prospects for recovery or surgical relief are bleak in the presence of Jirásek-Zuelzer-Wilson syndrome. Therapy and surgery can provide 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 fully resolved.
The development of a megacolon or intestinal obstructions are two of the possible consequences of Jirásek-Zuelzer-Wilson syndrome. This is probably caused genetically. It therefore 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 often the result of the Jirásek-Zuelzer-Wilson syndrome.
Lifespan is not reduced in Jirásek-Zuelzer-Wilson syndrome. But constant constipation, stomach inflammation or a temporary artificial bowel outlet has a permanent impact on the quality of life. If medical treatment is delayed, enterocolitis is likely. This also affects 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. For this reason, there are hardly any self-help groups and no exchange, except among patients who are also affected within the family. As a result, those affected often feel isolated. Many suffer from mental strain and stress. After surgical removal of the entire colon, the burden is even higher.
Prevention
The Jirásek-Zuelzer-Wilson syndrome cannot be prevented because the exact mechanisms of its development are unknown.
Aftercare
In most cases, those affected with Jirásek-Zuelzer-Wilson syndrome have very few or even no special measures and options for aftercare available, so that in the case of this disease, a quick and, above all, early diagnosis of the disease must be made in the first place to prevent further complications or discomfort.
Self-healing cannot occur in Jirásek-Zuelzer-Wilson syndrome, so that early diagnosis generally always has a positive effect on the further course of the disease. In most cases, this disease requires surgery. The affected person should definitely rest after such an operation and take care of their body, whereby stressful or physical activities should be avoided.
Fatty foods should also be avoided. Since the syndrome can also damage the other internal organs, the patient should attend regular body examinations to check the condition of the internal organs. The syndrome may also lead to a reduced life expectancy for those affected. The help and support of one’s own family or friends is often necessary, especially to prevent mental disorders or depression.
You can do that yourself
Patients with a colostomy and a colectomy (surgical removal of the entire colon) may have to relearn how to hold back the urge to defecate or lengthen the intervals. Doctors and clinics provide information on how such training can take place, but that is actually the domain of physiotherapists. You know the body, its muscles and fascia and you know which exercises strengthen which muscles and groups of muscles.
Highly liquid excretions from the anus, such as mucus or blood, but also highly aggressive faeces put a strain on the skin; after some time it becomes sore, cracked and no longer heals. Food thickened with psyllium or psyllium husks can prevent this. So-called faecal collectors glued between the buttocks collect the excretions. Faecal collectors are prescribed as standard for patients who are lying down, 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 condition; 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 for finding such a group.
