Kabuki syndrome is a rare genetic disease that occurs every 32,000 newborns. The appearance of a sick child (phenotype) resembles the makeup of an actor from the ancient Japanese theater of Kabuki.
Before the performance, a long make-up of male actors was carried out. The outer corners of the eyes were pulled up and to the side. Some sources use the term "Kabuki makeup syndrome." Sometimes an eponymous name is found - Niikawa-Kuroki syndrome. Eyes especially wanted to highlight. Many actors sacrificed their health and painted eyeballs. Eyebrows were also distinguished, making them curved in an arc. When the performance ended, the character froze in place, fixed his gaze at one point and squinted his eyes.
The disease is manifested by characteristic facial features in conjunction with mental retardation. Studying families with Kabuki syndrome, revealed an autosomal dominant type of inheritance.
History reference
Described in 1981 by Japanese doctors Niikawa and Kuroki. The first study found that out of 60 children, 58 were Japanese. For 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 were affected. Cases of the syndrome have been identified in North America, Arab countries, Belarus. To date, more than 350 cases of pathology have been studied.
Causes of the Syndrome
The etiology is not fully understood. A lot of research has been done. We studied the relationship of sex to the disease (50/50), excluded a relationship with closely related marriages, and did not reveal pathological effects on the fetus during pregnancy. Karyotyping of all sick children and their parents was carried out. They found gene mutations and tried to bring them under the syndrome, but studies have been disproved.
In 2011, screening was conducted in 110 families with Kabuki syndrome, and in 81 cases, a mutation of the MLL2 gene was detected, but this is not an absolute indicator of the disease. The diagnosis is still based on the clinical picture. Research is still ongoing.
Clinical signs of the disease
Based on the large number of examined, the scientist Niyikawa et al. Identified 5 cardinal symptoms of Kabuki syndrome .
- Characteristic face - long eye slits, thick eyelashes, eversion of the lower eyelid (ectropion), wide nose bridge, flattened tip of the nose, large protruding ears, eyebrows in the form of arches with sparse growth in their side, low hair growth.
- Skeletal anomalies - skull pathology and microcephaly, Gothic palate (high), cleft palate combined with cleft lip, dental abnormalities (wide tooth spaces, insufficient teeth, malocclusion forms), growth retardation, short fingers (especially the 5th) , sacrococcygeal sinus (epithelial-coccygeal passage), increased joint mobility, scoliosis.
- Change dermatoglyphics - fetal pads at your fingertips.
- Intellectual deficiency of varying degrees. IQ test an average of 60-80 points. Children with Kabuki syndrome are more likely to be autistic. Characterized by a violation of behavior, poverty of emotions, a tendency to chew inedible objects.
- Postnatal growth retardation.
Other symptoms
They accompany the main symptoms of the disease. Any body system can be affected.
- Pathology of the cardiovascular system. Any congenital heart defect can form (tetralogy of Fallot, ventricular or atrial septal defect, coarctation or aortic aneurysm, open ductus arteriosus).
- Surgical pathology - hernia (umbilical, inguinal, diaphragmatic), atresia of the anus.
- Malfunctions in the digestive system in the form of malabsorption of nutrients (malabsorption), biliary dyskinesia.
- The pathology of the urinary system is dysplasia, a horseshoe-shaped kidney, splitting of the renal pelvis, doubling and obstruction of the ureters.
- Malformations of the external genitalia - cryptorchidism, micropenis.
- Immunodeficiency. Children often have upper respiratory infections and pneumonia. An exacerbation of otitis media is observed.
- Endocrine pathology. In infancy, there may be hypoglycemia. Sometimes diabetes mellitus, congenital hypothyroidism, and obesity develop. Growth hormone levels can be reduced. Girls may have premature sexual development.
- Hematological disorders - idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, polycythemia, neonatal hyperbilirubinemia.
- Violations of the senses. Visual impairment (myopia, astigmatism, incomplete atrophy of the optic nerve. Decreased or loss of hearing (65% of cases).
- Neurological pathology. From birth, there may be a decrease in sucking and swallowing reflexes. Nerve palsy, nystagmus, strabismus, drooping eyelids. A third of children have muscular hypotension, which can persist for a long time. With growing up children are lagging behind in psychological and physical development, there is a violation of coordination of movements, a delay in speech development. There may be tremor of the hands and feet. The development of epilepsy occurs in any age category, girls are more susceptible.
Diagnosis of Kabuki syndrome
The diagnosis is made on the basis of the clinical picture and is confirmed by chromosomal studies. A molecular study is underway for a mutation of the MLL2 gene. Some genetic diseases have similar features, it is necessary to conduct differential diagnosis.
It is important to identify serious disorders of organs and systems using a wide range of laboratory and instrumental studies.
Kabuki Syndrome Treatment
Specific therapy does not exist. Correction of existing disorders in the body is carried out. Surgical treatment of heart defects is carried out. Carry out plastic hard palate. In case of hearing loss, treatment by an otolaryngologist and an audiologist is necessary, the question of the hearing aid is being resolved. Other irregularities are compensated. Children with Kabuki syndrome need to adapt to their social environment. Families need psychological and material support to raise such a child.
In the January issue of the leading American journal PNAS, an article was published on the treatment of mental retardation in Kabuki syndrome. The essence of therapy is the use of a low-carb ketone diet. This diet 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 restoration of nerve tissue in the brain of animals.
Our compatriot, Doctor of Biological Sciences Dyakonova Varvara commented on the discovery of American colleagues. She believes that nutritional 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.
Ketone bodies are known to be metabolites of fat breakdown. Their formation occurs with a lack of carbohydrates in the diet and the transition to protein nutrition. Ketones provide nutrition to the brain, but at the same time, their excess has a toxic effect on the central nervous system. Therefore, the introduction of such a diet in the diet of sick children requires additional tests. Research is underway.
Disease Awareness Day - October 23
It is noted in many countries of the world. A special Interregional Association of children with disabilities and their parents, Kabuki Syndrome, has been created. The work of a public organization is to support families faced with this pathology. In social networks, there are blogs of parents who share their experience in raising and adapting a sick child. People talk about the problem of how to live with it.
Disease and prognosis
Kabuki syndrome has a favorable prognosis. The life expectancy is affected by the presence of pathology from the cardiovascular system and the degree of immune defense.