Jirásek-Zuelzer-Wilson syndrome, also called Zuelzer-Wilson syndrome, is an aganglionosis of the intestine. Patients suffer from defecation problems and bloating as infants.
What is Jirásek-Zuelzer-Wilson syndrome?
Jirásek-Zuelzer-Wilson syndrome was named after physicians Wolf William Zuelzer, James Leroy Wilson, and Arnold Jirásek. They first described 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 from the rectum and/or colon. The ganglion cells of the Auerbach’s plexus (plexus myentericus) or the Meissner’s plexus (plexus submucosus) are affected by the disease. Both plexuses are part of the intramural and enteric nervous systems, respectively, and thus belong to the autonomic nervous system. The ganglia of Meissner’s plexus are located in the submucosa, the layer between the muscular layer and the mucosa of the intestine. The Meissner’s 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 is located between the annular and longitudinal muscles in the wall of the digestive system. It controls peristalsis and 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 systems. In contrast to Hirschsprung’s disease, Jirásek-Zuelzer-Wilson syndrome involves nerve structures throughout the colon.
Causes
Aganglionosis results in excessive cell formation of the upstream nerve cells. This also results in increased synthesis and release of the neurotransmitter acetylcholine. This results in constant stimulation of the ring muscles in the intestine, leading to permanent contraction of the respective section of the intestine. Due to the overexcitation of the ring muscles, the intestinal tube is constricted, resulting in intestinal obstruction. The bowel can no longer be emptied properly. Severe constipation with fecal stasis develops. The fecal stasis causes the intestine to dilate in front of the narrowed segment, and a megacolon may develop. The disease is probably due to a defect in neuroblast immigration. Neuroblasts are divisible precursor cells of nerve cells. In addition, there are maturation disorders in the immigrated neuroblasts. 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 runs in families, a genetic predisposition is assumed. In Hirschsprung’s disease, another aganglionosis, mutations were found in the endothelin-3 gene (EDN3) and the endothelin receptor gene (EDNRB). Hirschsprung’s disease and Jirásek-Zuelzer-Wilson syndrome occur more frequently in marriages between relatives. Therefore, the disease is quite common, especially among the Amish in the United States.
Symptoms, complaints, and signs
The first symptoms of Jirásek-Zuelzer-Wilson syndrome usually appear in the first few days after birth. An absence of meconium discharge is characteristic. Meconium is also called puerperal secretion. It is the first stool of the newborn. This contains exfoliated epithelium, thickened bile, hair, and skin cells and is excreted in the first 24 to 48 hours after birth. Meconium bowel obstruction, which is actually typical of the disease cystic fibrosis, may also indicate Jirásek-Zuelzer-Wilson syndrome. In adults, Jirásek-Zuelzer-Wilson syndrome occurs rather rarely. Affected individuals suffer from chronic constipation. Usually, only a very short part of the intestine is affected by aganglionosis in adult patients. The symptoms are not so pronounced, so the diagnosis is made very late.
Diagnosis and disease progression
The suspected diagnosis can usually be made on the basis of the clinical picture. To confirm the diagnosis, manometry is performed, among other tests. This involves measuring the pressure in the area between the anus and rectum. A suction biopsy from the mucosa of the rectum can also be performed under general anesthesia.Pathologic examination of the biopsied cells can then demonstrate the absence of ganglion cells. X-ray diagnosis with an intestinal contrast enema is not informative. This examination can only assess the extent of the changes. The procedure is also important as preparation for serial biopsy. Chemical examination of enzymes can be used to detect increased acetylcholinesterase activity in the first months of life and thus cholinergic dysinnervation in the intestinal mucosa. Another diagnostic clue for Jirásek-Zuelzer-Wilson syndrome is the absence of the protein calretinin. This is normally expressed in ganglion cells.
Complications
Quality of life is significantly limited and reduced by Jirásek-Zuelzer-Wilson syndrome. In most cases, the symptoms of Jirásek-Zuelzer-Wilson syndrome occur immediately after birth. The children suffer from digestive problems. As the disease progresses, chronic constipation also occurs. This constipation can still be present in adulthood and thus significantly restrict the daily life of the affected person. It is not uncommon for permanent discomfort in the stomach to lead to psychological upsets or severe depression. Stress can also further increase and intensify these complaints. Jirásek-Zuelzer-Wilson syndrome can be treated relatively well by removing the affected piece of intestine. This does not cause any particular complications or discomfort. Likewise, inflammation in the stomach and intestines must continue to be fought. In some cases, therefore, an artificial outlet on the intestine is also necessary, which, however, does not remain permanently. After the treatment, there are usually no more complaints or symptoms. Jirásek-Zuelzer-Wilson syndrome does not reduce the life expectancy of the affected person. It is not uncommon for treatments to have to be repeated.
When should you see a doctor?
Because Jirásek-Zuelzer-Wilson syndrome is most often diagnosed in infants or children, parents and obstetricians in particular should pay close attention to the child’s excretions. However, if adults notice sudden changes in bowel movements, they should also undergo a comprehensive medical examination. If children show problems with defecation, a visit to the doctor is necessary. If there is no bowel movement for several days, this is considered a warning sign. To avoid further bacterial diseases or inflammations, a doctor should be consulted as soon as possible. Babies are often hospitalized during the first days of life and are under constant medical supervision. In this case, the first irregularities are usually already discovered by the nursing staff in the infant ward, so that the child’s parents do not have to become active. If the newborn’s first stool contains skin particles or hair, further examinations are necessary. If the symptoms do not present themselves until a few weeks or months after delivery, a doctor should be consulted as soon as constipation develops. Often, a bloated abdomen develops, which indicates inconsistencies present. If the child is in pain or shows behavioral abnormalities, a doctor’s visit is required. If there is a refusal to eat, an apathetic or aggressive demeanor, a doctor is needed as well as if there is tearful or crying behavior.
Treatment and therapy
If Jirásek-Zuelzer-Wilson syndrome occurs in the newborn, an artificial bowel outlet usually must be placed, at least temporarily. Alternatively, the intestine can be irrigated or emptied as completely as possible with an intestinal tube. However, the affected intestinal segment must usually be surgically removed. If only a very short segment of bowel is affected by 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 hospital, laparoscopic, transanal, or open surgical procedures are used to treat Jirásek-Zuelzer-Wilson syndrome. If the disease 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 event of severe damage, the intestinal wall may perforate, allowing intestinal contents to enter the abdominal cavity and cause inflammation of the peritoneum (peritonitis). Life-threatening sepsis may result.
Outlook and prognosis
The prospects for recovery or surgical relief are grim in the presence of Jirásek-Zuelzer-Wilson syndrome. Although therapies and surgery can provide some degree of relief. However, it remains difficult to surgically set up the intestinal passage so that it functions smoothly. The many consequences of Jirásek-Zuelzer-Wilson syndrome cannot be fully remedied. The development of megacolon or intestinal obstructions are two of the possible consequences of Jirásek-Zuelzer-Wilson syndrome. This is thought to be genetically caused. It therefore occurs in infancy. The affected part of the intestine usually has to be removed. Nevertheless, enough complaints remain, so that not infrequently depression, life impairments and psychological disorders are the consequence of the Jirásek-Zuelzer-Wilson syndrome. Life span is not reduced in Jirásek-Zuelzer-Wilson syndrome. But due to constant constipation, stomach inflammation or a temporary artificial bowel outlet, the quality of life is permanently burdened. If medical treatment is delayed too long, enterocolitis is likely. This also places a burden on those affected. In the worst case, peritonitis follows, which can turn into life-threatening sepsis if left untreated. The rarity of this disease is problematic for those affected. Therefore, there are hardly any self-help groups and no exchange, except among patients within the family who are also affected. As a result, those affected often feel isolated. Many suffer from psychological strain and stress. After surgical removal of the entire colon, the stresses are even higher.
Prevention
Jirásek-Zuelzer-Wilson syndrome cannot be prevented because the exact mechanisms of its development are unknown.
Follow-up
In most cases, the person affected by Jirásek-Zuelzer-Wilson syndrome has very few, if any, special measures and options for aftercare available to him or her, so that in this disease, the first priority is to diagnose the disease quickly and, above all, at an early stage in order to prevent further complications or symptoms. Self-cure cannot occur in Jirásek-Zuelzer-Wilson syndrome, so that, in general, early diagnosis always has a positive effect on the further course of the disease. In most cases, this disease requires surgical intervention. The affected person should in any case rest and take care of his body after such an operation, refraining from stressful or from physical activities. Likewise, greasy food should be avoided. Since the syndrome can also damage the other internal organs, the patient should participate in regular examinations of the body to check the condition of the internal organs. Possibly, the syndrome also results in a reduced life expectancy of the affected person. Often, the help and support of one’s family or friends is also necessary, especially to prevent psychological upset or depression.
What you can do yourself
Patients with an artificial bowel outlet and a colectomy (surgical removal of the entire colon) may need to relearn how to hold back the urge to defecate or extend the intervals. Doctors and clinics provide information on how such training can take place, but this is actually the domain of physical therapists. They know the body, its muscles and fascia, and which exercises strengthen which muscles and groups of muscles. Highly fluid excretions from the anus, such as mucus or blood, but also highly aggressive feces, put a strain on the skin; after some time it becomes sore, cracked and no longer heals. A diet thickened with psyllium or psyllium husks can prevent this. So-called fecal collectors stuck between the buttocks catch the excreta. Fecal 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 detaching the adhesive surface – skin defects can occur here. Jirásek-Zuelzer-Wilson syndrome is an extremely rare condition; self-help groups for this condition are rare and therefore difficult to find. Here, the health insurance company can be a first point of contact.Even if no group is known there, health insurance employees are usually aware of alternative approaches to finding such a group.
