Kabuki syndrome: diagnosis, symptoms, treatment, prognosis

Kabuki syndrome is a rare genetic disorder, occurring once in 32,000 newborns. Appearance of a sick child( phenotype) recalls the makeup of the actor of the ancient Japanese Kabuki theater.

Before the performance, a long grimacing of male actors was conducted. External corners of eyes were pulled upwards and aside. In some sources, the term "Kabuki makeup syndrome" is used. Sometimes there is an eponymic name - the Niikawa-Kuroki syndrome. Eyes especially wanted to highlight. Many actors sacrificed their health and painted eyeballs. Also, the eyebrows were distinguished, making them a curved arc. When the performance was over, the character froze in place, directed his gaze to one point and mowed his eyes.

The disease manifests itself as a characteristic feature of the face in combination with mental retardation. Studying families with Kabuki syndrome, revealed an autosomal dominant type of inheritance.

Historical background

Described in 1981 by the Japanese doctors Niikawa and Kuroki. The first study showed that out of 60 children, 58 were Japanese. More than a decade in the medical world, the syndrome was considered a Japanese ailment. In 1992, it became apparent that people of any race are subject to the disease. Cases of the syndrome were identified in North America, Arab countries, Belarus. To date, more than 350 cases of pathology have been studied.

Causes of

Syndrome The etiology is not fully understood. A lot of research has been done. We studied the relationship of sex to disease( 50/50), excluded the relationship with closely related marriages, did not reveal pathological effects on the fetus during pregnancy. Carried out karyotyping of all sick children and their parents. They found gene mutations and tried to bring them to the syndrome, but the studies were refuted.

In 2011, 110 families with Kabuki syndrome were screened, and in 81 cases a MLL2 gene mutation was found, but this is not an absolute indicator of the disease. The diagnosis is still based on the clinical picture. Studies are still ongoing.

Clinical Signs of the Disease

Based on a large number of surveyed scientists, Niikawa et al. Identified five cardinal symptoms of Kabuki syndrome.

1. Characteristic face - long eyelids, thick eyelashes, eversion of the lower eyelid( ectropion), broad nose, flattened tip of the nose, large protruding ears, eyebrows in the form of arches with a rare growth in their lateral part, low hair growth.
2. Skeletal abnormalities - abnormality of the skull and microcephaly, gothic sky( high), cleft palate in combination with the hare lip, tooth abnormalities( wide dental spaces, insufficient teeth, irregular bite formation), stunting, short fingers( especially the 5th), sacrococcygeal sinus( epithelial-coccygeal passage), increased mobility of joints, scoliosis.
3. Changing dermatoglyphics - fetal pads at the fingertips.
4. Intellectual deficit of varying degrees. The IQ test is an average of 60-80 points. Children with Kabuki syndrome are more prone to autism. Characterized by a violation of behavior, poverty of emotions, a tendency to chewing inedible objects.
5. Postnatal growth retardation.

Other symptoms of

They accompany the main symptoms of the disease. Any body system can be affected.

1. Pathology of the cardiovascular system. Any congenital heart disease( tetralogy of Fallot, defect of interventricular or interatrial septum, coarctation or aneurysm of the aorta, open arterial duct) can form.
2. Surgical pathology - hernia( umbilical, inguinal, diaphragmatic), atresia of the anus.
3. Failures in the digestive system in the form of malabsorption of absorption of nutrients( malabsorption), dyskinesia of bile ducts.
4. Pathology of the urinary system - dysplasia, horseshoe-shaped kidney, splitting of the renal pelvis, doubling and obstruction of the ureters.
5. Malformations of the external genital organs - cryptorchidism, micropeniasis.
6. Immunodeficiency. Infants often have upper respiratory tract infections and pneumonia. There is an exacerbation of otitis media. Endocrine pathology. In infancy, there may be hypoglycemia. Sometimes there is diabetes, congenital hypothyroidism, obesity. The level of growth hormone can be reduced. Girls may have premature sexual development.
7. Hematologic disorders - idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, polycythemia, neonatal hyperbilirubinemia.
8. Disturbances from the senses. Visual impairment( myopia, astigmatism, incomplete atrophy of the optic nerve, loss or loss of hearing( 65% of cases)
9. Neurological pathology: From birth, there may be a decrease in sucking and swallowing reflexes, paralysis of the nerve, nystagmus, strabismus, omission of the eyelid.children are observed muscle hypotension, which can last for a long time. With children, children lag behind in psychological and physical development, there is a violation of coordination of movements, a delay in speech development. There may be a tremor of hands and feetThe development of epilepsy occurs in any age category, the girls are more likely

Diagnosis of Kabuki syndrome

A diagnosis is made on the basis of a clinical picture and is confirmed by chromosomal studies. Molecular investigation is carried out for the mutation of the MLL2 gene. Some genetic diseases have similar features, it is necessary to carry out differential diagnostics.

It is important to identify serious disorders of organs and systems through a wide range of laboratory and instrumental studies.

Treatment of Kabuki Syndrome

There is no specific therapy. Correction of existing disorders in the body. Surgical treatment of heart defects is carried out. Carry out the plastic hard skies. If hearing is impaired, treatment with an otolaryngologist and a hearing therapist is necessary, and the question of the hearing aid is decided. Other violations are compensated. Children with Kabuki syndrome need adaptation to the social environment. The families need psychological and material support for the upbringing of such a child.

In the January issue of the leading American journal PNAS, an article was published on the treatment of mental retardation in the Kabuki syndrome. The essence of the therapy is the use of low-carbohydrate ketone diet. Such nutrition helps to increase the level of neurogenesis. The study was conducted on laboratory mice at Johns Hopkins University. It was proven to increase the level of recovery of nervous tissue in the brain of animals.

Our compatriot, Doctor of Biological Sciences Dyakonova Varvara, commented on the discovery of American colleagues. She believes that food correction is much safer than chemical drugs. There are prerequisites that this method of treatment will help in the treatment of other genetic abnormalities, accompanied by mental retardation.

It is known that ketone bodies are metabolites of fat decomposition. Their formation occurs when there is a shortage of carbohydrates in the diet and switching to protein nutrition. Ketones provide nutrition to the brain, but at the same time, their excess has a poisoning effect on the central nervous system. Therefore, the introduction of such a diet in the diet of sick children requires additional testing. Studies are under way.

Awareness Day about the disease - October 23

It is noted in many countries of the world. A special Interregional Association of Disabled Children and their parents was established "Kabuki Syndrome".The work of a public organization is to support families who have experienced this pathology. In social networks there are blogs of parents who share their experience in the upbringing and adaptation of a sick child. People talk about the problem, how to live with it.

Disease and prognosis

Kabuki syndrome has a favorable prognosis. Life expectancy is affected by the presence of pathology from the cardiovascular system and the degree of immune defense.