Cockney syndrome is a rare genetic pathology, otherwise called Neil-Dingwall disease. At its core, this is an anomaly in the development of the nervous system, which is characterized by premature aging of a person, dwarfism, skin damage, impaired vision and hearing.
Definition
Cockney's syndrome is an autosomal recessive neurodegenerative disease that occurs due to a violation of the recovery mechanism of DNA molecules. Such patients are weak, they are sensitive to light due to the pathology of the visual analyzer, have disorders of the nervous system, as well as a violation of the development of one or all internal organs. Such changes are associated with the rapid and extensive degradation of white matter.
Children with this disease, as a rule, live for about ten years, but rare cases of their coming of age are registered. Scientists can name what specific changes in the genetic material are observed with this syndrome, but the relationship between damage and clinical manifestations remains a mystery.
Study history
Coccain Syndrome is named after the twentieth-century English physician Edward Coccain. He first encountered and described this disease in 1936. Ten years later, another article was published on this pathology.
The disease got its second name due to the work of two women: Maria Dingwall and Catherine Nill, who published their observations on twins with symptoms similar to those of Cockein. In addition, they drew parallels with another nosology - progeria, which is characterized by similar clinical manifestations.
Causes
How does science explain the onset of a disease such as Cockney syndrome? The reasons for it lie in damage to the loci of two genes - CSA and CSB. They are responsible for the structure of enzymes involved in the repair of damaged DNA.
There is a theory according to which, defects affect the repair of exclusively active genes only. This statement may explain the fact that, despite the high sensitivity to ultraviolet light, people with this pathology do not suffer from skin cancer.
Mixed forms of the disease are also distinguished when the damage is also in the locus of HRV (D or G). Then, neurological symptoms join the main manifestations of the syndrome.
Forms
Coccain's syndrome, based on the nature and localization of gene damage, can be divided into four types.
- The first type or classic. It is characterized by the birth of a morphologically normal child. Manifestations of the disease appear in the first couple of years of life. Hearing and vision deteriorate, at first the peripheral and then the central nervous system begin to suffer, up to atrophy of the cerebral cortex, although it is not as critical as with other forms. A person dies before reaching twenty years.
- The second type of pathology can be diagnosed at birth. A neonatologist reveals a very weak development of the nervous system, the absence of mandatory reflexes and reactions to stimuli. Children die before seven years. This form is also known as Peña-Shockeyr syndrome. Patients have a decrease in the rate of myelination and calcification of the nervous system.
- In the third type of disease, all symptoms are much weaker, and their debut is observed later than in the first or second type. In addition, individuals with this variant of the lesion may live to maturity.
- Coccain's Syndrome The genetic reason for this condition is due to the fact that in addition to damage to reparative enzymes, the child has a clinic of pigment xeroderma.
Clinic
How is the visual and symptomatic manifestation of Cockney syndrome? Photos of such children can shock especially impressionable women, and not all doctors can easily contemplate them. The child has a stunted growth up to dwarfism with imbalances between the trunk and extremities. The skin is pale, since sunlight is harmful to such patients, it gathers in wrinkles and folds, hyperpigmentation, scars and other signs of aging appear early. At the same time, they are quite resistant to high temperatures, blisters and burns pass almost without a trace.
The eyes are large, sunken, impaired vision due to degenerative changes in the retina (in the form of salt and pepper) and atrophy of the optic nerve. In some cases, peripheral retinal detachment is possible. The eyelids do not close completely. Nystagmus is possible, that is, involuntary movements of the eyeballs from side to side or from top to bottom. In addition, accommodation paralysis is often observed when the pupils do not change their diameter. The child is deaf and has disorders in the structure of the cartilage of the auricles.
The brain part of the skull is poorly developed, the upper jaw is massive. In joints, flexion contractures and other neurological disorders are formed. The child is behind in intellectual development.
Diagnostics
Modern medicine cannot answer the question: who has Coccain's syndrome more often, since the point mutation and predisposition to it can only be if a similar pathology has already occurred in the family. But, as a rule, proband parents do not know about such precedents.
To confirm, laboratory and instrumental diagnostics are carried out. In the general analysis of urine, you can see a slight protein content, in the blood there will be a decrease in the hormones of the thymus, which are responsible for the growth and development of the child. On the x-ray of the skull , calcifications in the substance of the brain will be visible.
Of the specific studies, a biopsy of the calf nerve is used, on which a violation of myelination is detected. When irradiating the patient's cells with ultraviolet light, an increased sensitivity to its effects is observed. Studying the rate of DNA and RNA recovery after damage can give a clearer picture of the disease.
For perinatal diagnosis, it is appropriate to use PCR to identify damaged genome structures.
Pathomorphology
There are specific pathologies of the internal organs, according to which on the section you can determine the Cockney syndrome. The causes of these changes are associated with impaired development of the neural tube in the prenatal period and the destruction of the nervous system after the birth of a child.
At the autopsy, the pathologist discovers a disproportionately small brain, in which there are atherosclerotically altered vessels, as well as thickening of tissues due to their impregnation with calcium crystals and fibrin. Hemispheres appear spotty due to color changes in demyelinated areas. In the peripheral nervous system there are also characteristic changes in the form of impaired conduction, proliferation of pathological glia cells.
Treatment
Specific treatment for this group of patients has not been developed. In order to avoid the birth of a child with a similar pathology, married couples who have risk factors should undergo medical and genetic counseling before pregnancy. In addition, in the first three months of gestation, an amniocentesis can be done to accurately be sure of the health of the child.
To do this, it is enough to irradiate the cells in the amniotic fluid with a dose of ultraviolet radiation. If the laboratory assistant reveals excessive sensitivity and lengthening of the recovery period, then this is in favor of Cockein's syndrome.