There are a large number of hereditary severe diseases that few people know about. After all, some of these pathologies are very rare. Unfortunately, most hereditary diseases are severe and not treatable. Most often they make themselves felt in the first years of a child's life. One of these ailments is considered Zellweger's syndrome (Bowen's disease). It is the result of changes in the genetic code. The disease is formed in the womb. Unfortunately, the pathology is considered so rare that it is rarely diagnosed during pregnancy. Precise data on the incidence of the disease in boys and girls are not available.
Zelweger syndrome: a description of the pathology
It is known that this disease belongs to the group of peroxisomal pathologies. Another name for the disease is “cerebrohepatorenal syndrome”. Based on this term, one can understand which organs are affected in this pathology. What is Zellweger syndrome and why does it occur? Even scientists do not know the answers to these questions. Only a small part of the information about such a pathology is known. After all, the frequency of occurrence of this syndrome is soso small that it is not possible to fully explore it. Unfortunately, at the moment, the prognosis for such a disease is disappointing. Children born with a similar diagnosis rarely survive to 1 year. This is associated with severe symptoms of pathology. Among them are a delay in psychomotor and physical development, kidney and liver failure. In addition, Zellweger's syndrome is often combined with other anomalies. Some of the malformations are incompatible with life. Currently, there is no reliable data on whether the anomalies are the result of peroxisome deficiency or whether they occur as independent pathologies. There is no etiological treatment for this pathology.
Zelweger syndrome: causes of the disease
Cerebrohepatorenal syndrome develops due to insufficiency of cell organelles - peroxisomes. They are necessary for the implementation of redox processes. If peroxisomes are absent, biochemical disorders develop. The cause of Zellweger's syndrome is considered to be a burdened heredity. It is known that the disease is transmitted from parents in an autosomal recessive manner. Cell failure is associated with mutations in 1, 2, 3, 5, 6, 12 peroxin genes. Despite the fact that scientists have found out what changes occur in the body with cerebrohepatorenal syndrome, why they develop is still unknown. Probably, in addition to aggravated heredity, provoking factors also influence the occurrence of pathology. Among them are the harmful effects of chemical agents onthe body of a pregnant woman, addiction to alcoholic beverages and drugs. Also, gene mutations can develop due to stress.
Clinical presentation of Zellweger syndrome
Zelweger's syndrome (Bowen's disease) is characterized by changes in the brain, kidneys and liver. Pathology can be suspected immediately after the birth of a child. Children suffering from this disease are born with low body weight and have pronounced skull dysmorphia. A bulge is noted in the frontal region, a small fontanel is enlarged in size. There are symptoms such as "Gothic palate", hydrocephalus, flattening of the occiput. A large number of folds are observed on the neck of newborns.
In the first months of life, pathologies of the digestive system are detected. Among them are syndromes of cholestasis, jaundice, hepatomegaly. In some cases, adrenal atrophy is observed. When examining the liver and kidneys, cysts are detected (not always). In addition, there are visual impairments. Among them are congenital cataracts, glaucoma, clouding of the cornea of the eye. In some cases, the optic discs are atrophied. Based on these symptoms, it can be concluded that the patient has Zellweger's syndrome. In addition to these manifestations, anomalies of the heart and genital organs are often observed.
Neurological disorders
To a greater extent, the nervous system suffers from Zellweger's syndrome. From the first minutes of a child's life, one can detect pronounced muscle hypotonia, lack ofreflexes. Because of the weakness of the muscles, the baby cannot suckle normally at the mother's breast. On examination, bilateral nystagmus is noted. One of the neurological disorders is a convulsive syndrome, which can be fatal. The psychomotor development of the child does not correspond to his age. Examination of the brain reveals excessive accumulation of cerebrospinal fluid (hydrocephilia), smoothness of the convolutions and sulci.
Diagnosis
The diagnosis of "Zelweger's syndrome" is made on the basis of clinical signs, data from examinations of internal organs. Despite the fact that the pathology is very rare, the combination of symptoms of damage to the brain, liver and kidneys makes it possible to suspect it. Clinical features are: skull dysmorphia, hypotension and areflexia. On examination, jaundice, lack of reaction to light and sound are revealed. The diagnosis becomes more likely after an ophthalmological examination. Ultrasound of the abdominal organs reveals bile thickening syndrome, hepatomegaly, adrenal atrophy, and cysts. Liver puncture revealed fibrosis. Radiography of the bones of the lower extremities reveals dysplasia of the knee and hip joint. In addition, anomalies of the heart, kidneys, and genital organs may be observed.
The final diagnosis is made after a biochemical blood test. The presence of the disease can be said with accuracy with an increase in the level of peroxisomal acids in the blood plasma. Genetic diagnostics are also performed.
Complications of peroxisomal pathologies
Complications of Zellweger's syndrome are fatal. They may be associated with an abnormality of the internal organs or the brain. Severe complications include acute liver and kidney failure, generalized convulsions, hydrocephalus. In some cases, severe consequences develop due to heart abnormalities. Among them - severe circulatory failure, pulmonary hypertension. The progressive deterioration of the condition is due to hypotension, as there is weakness of the respiratory muscles. Treatment of pathology is symptomatic. It includes - parenteral nutrition, the introduction of anticonvulsants (medication "Seduxen", "Phenobarbital"), if necessary - mechanical ventilation.
Prognosis for peroxisomal diseases
Zelweger's syndrome is a disease for which no therapy has yet been developed. Unfortunately, the prognosis for this pathology is poor. In most cases, children do not live past 1 year. Death occurs due to severe anomalies of the internal organs or complications of the disease.
