There are a large number of hereditary serious illnesses that few people know about. After all, some of these pathologies are very rare. Unfortunately, for the most part, hereditary diseases are difficult and cannot be treated. Most often, they make themselves felt in the first years of a child's life. One of these ailments is considered Zellweger syndrome (Bowen's disease). It is a consequence 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. Accurate data on the incidence of the disease in boys and girls is not available.
Zellweger 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, you can understand which organs are affected by 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 a similar pathology is known. After all, the frequency of occurrence of this syndrome is so small that it is not possible to fully investigate it. Unfortunately, at the moment, the prognosis for such an ailment is disappointing. Children born with a similar diagnosis rarely live up to 1 year. This is due to severe symptoms of pathology. Among them - a delay in psychomotor and physical development, renal and hepatic insufficiency. In addition, Zellweger syndrome is often combined with other abnormalities. Some of the malformations are incompatible with life. Currently, there is no reliable data on whether anomalies are a consequence of peroxisome deficiency or whether they arise as independent pathologies. The etiological treatment of this pathology is absent.
Zellweger syndrome: causes of the disease
Cerebrohepatorenal syndrome develops due to insufficiency of cellular organelles - peroxisomes. They are necessary for the implementation of redox processes. If peroxisomes are absent, biochemical disorders develop. The cause of Zellweger syndrome is considered burdened by heredity. It is known that the disease is transmitted from parents by an autosomal recessive trait. Cellular deficiency 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 burdened heredity, provoking factors also influence the occurrence of pathology. Among them - the harmful effects of chemical agents on the body of a pregnant woman, addiction to alcoholic beverages and drugs. Also, gene mutations can develop due to stress.
The clinical picture in Zellweger syndrome
Zellweger syndrome (Bowen's disease) is characterized by changes in the brain, kidneys and liver. Pathology can be suspected immediately after the birth of the baby. Children suffering from this disease are born with low body weight and have severe skull dysmorphia. In the frontal region, a bulge is noted, a small fontanel is increased in size. Symptoms such as “Gothic palate”, hydrocephalus, flattening of the nape are noted. 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 cholestasis, jaundice, hepatomegaly syndromes. 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 - congenital cataract, glaucoma, clouding of the cornea of the eye. In some cases, optic nerve discs are atrophied. Based on these symptoms, we can conclude that the patient has Zellweger syndrome. In addition to the listed manifestations, abnormalities of the heart and genitals are often observed.
Neurological disorders
To a greater extent with Zellweger syndrome, the nervous system suffers. From the first minutes of a child’s life, pronounced muscle hypotension and the absence of reflexes can be detected. Due to muscle weakness, the baby cannot suckle the mother’s breasts properly. On examination, bilateral nystagmus is noted. One of the neurological disorders is convulsive syndrome, which can be fatal. The psychomotor development of the child does not correspond to his age. When examining the brain, an excessive accumulation of cerebrospinal fluid (hydrocephilus), smoothness of the convolutions and furrows are revealed.
Diagnostics
The diagnosis of “Zellweger syndrome” is made on the basis of clinical signs, data from examinations of internal organs. Despite the fact that the pathology is very rare, a 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, a lack of reaction to light and sound are revealed. The diagnosis becomes more likely after an ophthalmic examination. Ultrasound of the abdominal organs reveals a thickening syndrome of bile, hepatomegaly, adrenal atrophy , cysts. When a liver puncture is performed, fibrosis is detected. An X-ray of the bones of the lower extremities reveals dysplasia of the knee and hip joints. In addition, abnormalities of the heart, kidneys and genitals can be observed.
A final diagnosis is made after a biochemical blood test. The presence of the disease can be said with accuracy with increasing plasma levels of peroxisomal acids. Genetic diagnosis is also performed.
Complications of peroxisomal pathologies
Complications of Zellweger syndrome are fatal. They may be associated with an abnormality in the internal organs or brain. Severe complications include acute hepatic and renal failure, generalized convulsions, and hydrocephalus. In some cases, severe consequences develop due to cardiac abnormalities. Among them - severe circulatory failure, pulmonary hypertension. A progressive deterioration due to hypotension, as there is a weakness in the respiratory muscles. Treatment of pathology is symptomatic. They include parenteral nutrition, the introduction of anticonvulsants (Seduxen, Phenobarbital), and, if necessary, mechanical ventilation.
Prognosis for peroxisomal diseases
Zellweger syndrome is a disease whose therapy is not currently developed. Unfortunately, the prognosis for this pathology is unfavorable. In most cases, children do not live up to 1 year. A fatal outcome occurs due to severe abnormalities of the internal organs or complications of the disease.