Diseases

CHIME Syndrome – Causes, Symptoms & Treatment

CHIME-Syndrom

CHIME syndrome is a disease that is comparatively rare. In addition, the affected patients are usually mentally handicapped.

What is CHIME Syndrome?

CHIME syndrome is sometimes synonymously referred to as neuroectodermal syndrome or Zunich-Kaye syndrome . The prevalence of the disease is estimated at approximately 1:1,000,000. Basically, the CHIME syndrome is inherited by the following generations in an autosomal recessive way.

The name of the disorder is an acronym. CHIME syndrome has a genetic component and is present from birth. The main symptoms include coloboma on both sides, migrating dermatosis, convulsive seizures, hearing loss due to ear deformities, and heart defects.

The main symptoms of the disease include colobomas , heart defects , as well as anomalies of the face. The disease was first described by Zunich and Kaye in 1983. In honor of these two authors, the disease name CHIME syndrome was introduced. The dermatosis associated with CHIME syndrome is migratory and present either from birth or within the first four to six weeks.

causes

CHIME syndrome is primarily due to genetic causes. Special mutations are responsible for the fact that the affected patients have defects in a specific gene. As a result, CHIME syndrome develops. These are specifically mutations that take place on the so-called PIGL gene. CHIME syndrome is usually passed on in an autosomal recessive manner.

Symptoms, Ailments & Signs

When a person has CHIME Syndrome, they experience a variety of ailments and symptoms. In individual cases, they differ in part. However, abnormalities of a craniofacial nature or anomalies in the area of ​​the face of the affected patients are typical.

For example, Mongoloid eyelids, brachycephalus , a weakly pigmented iris and a philtrum are possible. These symptoms of CHIME syndrome may be accompanied by a flat face, hypertelorism , and a relatively wide mouth. The upper lip is usually relatively thin and narrow.

In some people with CHIME syndrome, the nostrils are forward. There are also numerous cases of abnormalities and deviations in the area of ​​the teeth. The teeth are often further apart, so that significant gaps form.

In addition, the individual teeth often have a square shape. In addition, some patients affected by CHIME syndrome suffer from defects of the heart , a cleft palate or what is known as a pectoral funnel . Also, some people have extra nipples.

However, one of the central symptoms of CHIME syndrome is the migratory dermatosis. This starts early. In addition, there are usually colobomas, which occur on both sides. Cerebral convulsive seizures are also possible. In many cases, the sick people are mentally handicapped .

The development of language skills is often delayed in patients suffering from CHIME syndrome. Some affected individuals also exhibit behaviors reminiscent of autism . Some sick children also show aggressiveness , which under certain circumstances is directed towards others and themselves. This phenomenon usually worsens during puberty .

Diagnosis & History

The diagnosis of CHIME syndrome is made taking into account the characteristic symptoms. In any case, a doctor should be consulted if there are typical signs of illness. The first priority is to take an anamnesis. The affected patient or his or her legal guardians present the treating physician with the symptoms and explain the circumstances in detail.

Due to the hereditary component of the CHIME syndrome, the family history must also be taken in great detail. In this way, the doctor collects a large number of relevant clues that may already prompt him to make a suspected diagnosis. When the patient consultation is complete, clinical examinations begin.

Now the focus is on the specific symptoms of the disease. If the respective patient shows the typical combination of a migrating dermatosis, bilateral colobomas, heart defects and facial abnormalities, the CHIME syndrome can be diagnosed with relative certainty. The diagnosis is supported by genetic analyzes that indicate corresponding mutations.

Especially with regard to heart defects and neurological problems, early diagnosis is of great importance so that adequate treatment can be prescribed.

complications

In most cases, the CHIME syndrome leads to a mental disability in the patient. It is not uncommon for those affected to depend on the help of other people or carers in their everyday life and can no longer carry out many everyday activities themselves. As a rule, various deformities and anomalies in the facial area also occur as a result of the syndrome.

These anomalies can lead to teasing or bullying, especially in children, which develops psychological disorders. A heart defect also occurs which, if left untreated, can lead to the death of the patient. Most of those affected also suffer from a so-called cleft palate and a funnel chest. The quality of life is severely restricted by the symptoms of CHIME syndrome.

In most cases, the parents also suffer from psychological problems. Patients also have speech disorders and often become irritable or mildly aggressive. A causal treatment of the CHIME syndrome is usually not possible. For this reason, only the symptoms are treated, although seizures, for example, cannot be completely ruled out. Life expectancy is reduced by the syndrome.

When should you go to the doctor?

If skull deformities, abnormal teeth, and other signs of CHIME syndrome are noticed, a doctor should be consulted. Parents who notice these symptoms in their child should inform the pediatrician .

In the event of subsequent symptoms such as the so-called funnel chest, a cleft palate or signs of a heart defect, a doctor must be consulted immediately, who can clarify the symptoms and treat them directly if necessary. If there is a medical emergency and the child can no longer breathe or shows the first signs of a heart attack, the emergency doctor must be called immediately.

Since the CHIME syndrome is a hereditary disease, a targeted diagnosis is possible. If one parent is already affected by the disease or if there are cases of similar diseases in the family, an examination should be carried out during the pregnancy. The disease is usually diagnosed after birth at the latest. Treatment is then usually initiated immediately. Therapeutic and physical therapy help should be sought later in life.

Treatment & Therapy

There are several options available to treat CHIME syndrome. A therapy of the causes is not practicable, since it is a congenital disease. Instead, the focus is on treating the individual complaints.

The dermatosis is treated, for example, with the active ingredient isotretinoin . This reduces the damage to the skin in the majority of cases. However, there is still a risk of secondary infections. Previous observations allow a prognosis of the CHIME syndrome. So it is assumed that the general state of health of those affected

patient is well under the circumstances with appropriate therapy. However, intellectual disability is severe and does not improve over the course of life. The migrating dermatosis is chronic and can only be alleviated with medication. The seizures also remain part of the disease.

Outlook & Forecast

CHIME syndrome is usually associated with an intellectual disability that cannot be treated. A complete cure does not occur with this syndrome, so that patients always depend on symptomatic treatment throughout their lives. Furthermore, most patients are dependent on the help of other people in their everyday life.

The damage to the skin in CHIME syndrome can be well limited with the help of medication. However, those affected must continue to protect themselves from infections and inflammation. Seizures are also only treated symptomatically. In the worst case, however, they can lead to the death of the person concerned if they are not solved in time.

In mental retardation, healing is very limited as it can be alleviated by various therapies and exercises. It usually doesn’t get worse over the course of life. Furthermore, in many cases the CHIME syndrome is also associated with severe mental health problems, which can also affect the parents or relatives.

The life expectancy of the patient is usually not negatively affected by the treatment. If the syndrome is not treated, the patient suffers from severe skin problems. Whether this will lead to a reduced life expectancy cannot be universally predicted.

prevention

According to the current state of knowledge, CHIME syndrome cannot be prevented. Because the disease is present from birth and is inherited. Early diagnosis and therapy improve the quality of life.

You can do that yourself

Individuals with CHIME Syndrome can do a number of things themselves to improve their well-being. Depending on the type and severity of the disease, the CHIME syndrome itself can also be treated with natural remedies. In addition, any side effects can be supported by general measures.

The psychological symptoms associated with the condition are best dealt with in a conversation with other people affected. If necessary, the doctor can also put you in touch with a self-help group and give further tips for the supportive treatment of any mental health problems.

Physical ailments such as the typical facial abnormalities are treated surgically. Rest, bed rest and other typical general measures apply here. In addition to conservative treatment with isotretinoin, alternative means also help against skin changes. In consultation with the dermatologist , natural remedies such as ginseng or aloe vera can be used.

Home remedies such as cooling and warming pads can also help, depending on the type and severity of the symptoms. In order to avoid complications, appropriate remedies should only be used if the doctor gives his express okay.

Should unusual symptoms occur during therapy, the treatment must be discontinued immediately. It is advisable to inform the doctor about the side effects.

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Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.