CHIME syndrome is a disease that is comparatively rare. In addition, affected patients are usually mentally retarded.
What is CHIME syndrome?
CHIME syndrome is sometimes referred to synonymously as neuroectodermal syndrome or Zunich-Kaye syndrome. The prevalence of the condition is estimated to be approximately 1:1,000,000. In general, CHIME syndrome is inherited in an autosomal recessive manner to subsequent generations. The name of the disease is an acronym. CHIME syndrome has a genetic component and is present from birth. The main symptoms include coloboma on both sides, migratory dermatosis, convulsive seizures, hearing loss due to deformities of the ears, and defects of the heart. The main symptoms of the disease include coloboma, heart defects as well as abnormalities of the face. The disease was first described in 1983 by Zunich and Kaye. In honor of these two authors, the disease name CHIME syndrome was introduced. The dermatosis seen in CHIME syndrome migrates and presents either from birth or within the first four to six weeks.
Causes
CHIME syndrome is primarily due to genetic causes. For example, specific mutations are responsible for causing affected patients to have defects on a particular gene. As a result, CHIME syndrome develops. Specifically, these are mutations that take place on the so-called PIGL gene. CHIME syndrome is usually passed on in an autosomal recessive manner.
Symptoms, complaints, and signs
When a person has CHIME syndrome, various complaints and symptoms occur. In individual cases, they differ to some extent. However, abnormalities of a craniofacial nature or abnormalities 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. In some circumstances, these symptoms of CHIME syndrome are accompanied by a flat face, hypertelorism, and a relatively wide mouth. The upper lip is usually relatively thin and narrow. In some individuals suffering from CHIME syndrome, the nostrils are oriented forward. The teeth also show abnormalities and deviations in numerous cases. The teeth often stand further apart, so that clear 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 a so-called funnel chest. In addition, some individuals have superfluous nipples. However, one of the central symptoms of CHIME syndrome is migratory dermatosis. This starts at an early age. In addition, colobomas usually occur on both sides. In addition, cerebrally induced convulsive seizures are possible. In many cases, the affected persons are mentally retarded. The development of speech is often delayed in patients affected with CHIME syndrome. Some affected individuals also exhibit behaviors reminiscent of autism. Also, some affected children show aggressiveness, which may be directed in violence against others and themselves. This phenomenon usually worsens during puberty.
Diagnosis and course
Diagnosis of CHIME syndrome is made by considering the characteristic complaints. In any case, a physician should be consulted if typical signs of the disease are observed. The first priority is to take a medical history. The affected patient or his or her legal guardians present the symptoms to the attending physician and explain the circumstances of his or her life in detail. Due to the hereditary component of CHIME syndrome, the family history must also be taken in great detail. In this way, the physician collects a large number of relevant clues that may already lead him to make a tentative diagnosis. Once the patient interview has been completed, it is time for clinical examinations. The focus is now on the specific symptoms of the disease. If the respective patient shows the typical combination of a wandering dermatosis, bilateral colobomas, cardiac abnormalities and facial abnormalities, CHIME syndrome can be diagnosed with relative certainty.The diagnosis is supported by genetic analyses that point to corresponding mutations. Especially with regard to cardiac defects as well as neurological problems, a timely diagnosis is of great importance so that adequate treatment can be prescribed.
Complications
Due to CHIME syndrome, in most cases, mental retardation occurs in the patient. It is not uncommon for those affected to be dependent on the help of other people or caregivers in their daily lives, and they are no longer able to perform many activities of ordinary daily living themselves. As a rule, the syndrome also causes various deformities and anomalies in the facial region. These anomalies can lead to teasing or bullying, especially in children, and psychological upsets develop as a result. There is also a heart defect which, if left untreated, can lead to the death of the patient. Most patients also suffer from a so-called cleft palate and a funnel chest. The quality of life is severely limited by the symptoms of CHIME syndrome. In most cases, the parents also suffer from psychological symptoms. Patients also exhibit speech disorders and often become irritable or easily aggressive. Causal treatment of 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 one go to the doctor?
When skull deformities, abnormalities in the teeth, and other signs of CHIME syndrome are noticed, a doctor should be consulted. Parents who notice appropriate symptoms in their child should inform the pediatrician. In case of secondary 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, if necessary, treat them directly. If there is a medical emergency and the child can no longer breathe, for example, or shows the first signs of a heart attack, the emergency doctor must be called immediately. Since CHIME syndrome is a hereditary disease, a specific 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 already be performed during pregnancy. In most cases, the disease is detected after birth at the latest. Treatment is then usually initiated immediately. Therapeutic and physiotherapeutic help should be sought later in life.
Treatment and therapy
Several options are available for the treatment of CHIME syndrome. Treatment of the causes is not practical because it is a congenital condition. Instead, the focus is on treating the individual symptoms. The dermatosis is treated, for example, with the active substance isotretinoin. As a result, the damage to the skin recedes in the majority of cases. However, there is still a risk of secondary infections. Previous observations allow a prognosis of the CHIME syndrome. It is assumed that the general state of health of the affected patients will be satisfactory with
patients is good under the circumstances with appropriate therapy. However, the mental retardation is severe and does not improve with age. The migratory dermatosis is chronic and can only be alleviated with medication. Seizures also remain part of the disease.
Outlook and prognosis
CHIME syndrome is usually associated with mental retardation that cannot be treated. A complete cure does not occur with this syndrome, so patients are always dependent on symptomatic treatment throughout their lives. Furthermore, most patients are dependent on the help of other people in their daily lives. 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 inflammations. The seizures are also treated only symptomatically. In the worst case, however, they can lead to the death of the affected person if they are not resolved in time. Mental retardation has a very limited cure, as it can be alleviated by various therapies and exercises. It usually does not increase in the course of life.Furthermore, CHIME syndrome is in many cases also associated with severe psychological complaints, which can also occur in the parents or in the relatives. In most cases, the treatment does not negatively affect the patient’s life expectancy. If there is no treatment of the syndrome, the patients will suffer from severe discomfort of the skin. Whether this results in decreased life expectancy cannot be universally predicted.
Prevention
CHIME syndrome cannot be prevented, according to current knowledge. This is because the disease exists from birth and is inherited. Timely diagnosis and treatment improve quality of life.
What you can do yourself
People who have CHIME syndrome can do a few things themselves to improve their well-being. Depending on the type and severity of the condition, CHIME syndrome itself can also be treated with natural remedies. In addition, any accompanying symptoms can be supported by general measures. The psychological discomfort associated with the condition is best worked through in a discussion with other sufferers. If necessary, the physician can also establish contact with a self-help group and provide further tips for supportive treatment of any psychological complaints. 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 remedies also help against the skin changes. In consultation with the dermatologist, for example, natural remedies such as ginseng or aloe vera can be used. Home remedies such as cooling and warming compresses can also help, depending on the type and severity of the symptoms. To avoid complications, such remedies should only be used if the doctor gives his explicit okay. If unusual complaints occur during therapy, treatment must be discontinued immediately. It is indicated to inform the physician about the side effects.
