Colpocephaly: what it is, causes, symptoms and treatment
The process of brain formation can lead to complications such as enlarged ventricles.
There are multiple factors that can cause defects in brain formation during intrauterine development or later, such as contact with toxic substances or the inheritance of genetic mutations.
In this article we will describe causes, symptoms and treatment of colpocephaly, a rare disorder of brain development.a rare disorder of brain development.
What is colpocephaly?
Colpocephaly is a congenital morphological abnormality of the brain that is characterized by a disproportionately large size of the occipital horns of the lateral ventricles.Cerebrospinal fluid, the cavities through which cerebrospinal fluid circulates, which performs functions similar to those of Blood inside the skull. It may be due to various brain disorders.
The term "colpocephaly" was coined in 1946 by the neurologist Paul Ivan Yakovlev and the neuropathologist Richard C. Wadsworth. The words "kephalos" and "kolpos" come from Greek and can be translated as "head" and "hollow", respectively. This disorder had been described 6 years earlier by Benda, who gave it the name "vesiculocephaly".
Colpocephaly is part of a group of structural alterations known as "vesiculocephaly". structural alterations that are known as "cephalic disorders".. By definition, this category includes all anomalies and damage affecting the head and especially the brain, such as anencephaly, lissencephaly, macrocephaly, microcephaly and schizencephaly.
In any case, this is a very rare disorder. Although there are no precise data on the prevalence of colpocephaly, between 1940, the year it was first described, and 2013 only 50 cases had been identified in the medical literature.
It is important to distinguish colpocephalus from hydrocephalushydrocephalus, which is an accumulation of cerebrospinal fluid in the brain that causes symptoms resulting from increased cranial pressure. Cases of colpocephalus are often misdiagnosed as hydrocephalus, and treatment of this disorder may result in signs of colpocephalus.
Causes of this disorder
The causes of colpocephaly are varied, but always interfere with brain development by causing the white matter (the bundle of fibers formed by axons of neurons) to have a lower density than normal. This causes, as well as indicates, an altered functioning of the transmission of electrochemical impulses in the brain.
Among the most common causes of colpocephaly are the following include the following:
- Genetic defects such as trisomies of chromosomes 8 and 9.
- Recessive inheritance associated with the X chromosome.
- Alterations in the neuronal migration process.
- Contact with teratogens during intrauterine development (e.g. alcohol, corticosteroids).
- Perinatal cephalic injuries (e.g. ischemic anoxia)
- Hydrocephalus and sequelae of its treatment
- Absence (agenesis) or incomplete development (dysgenesis) of corpus callosum
- Other developmental and central nervous system disorders
Main symptoms and signs
The fundamental sign of colpocephaly is the disproportionate size of the occipital horns of the lateral ventricles compared to the rest of their sections. This indicates a reduction in the rate of brain development, or an arrest of brain development at an early stage.
Colpocephaly does not usually occur in isolation. usually occurs in conjunction with other disorders affecting the central nervous system, especially its development.especially its development. These include microcephaly, lissencephaly, agenesis, dysgenesis and lipoma of the corpus callosum, schizencephaly, cerebellar atrophy or Chiari malformations.
Nerve disorders can cause a variety of symptoms and signs, including cognitive deficits, cognitive impairment cognitive deficits, motor dysfunctions, the occurrence of seizures and muscle spasms, and the and muscle spasms, language impairment, and visual and auditory deficits. A frequently associated morphological anomaly is small head size (microcephaly).
However, since the severity of the morphological abnormalities causing colpocephaly differs from case to case, sometimes there are no symptoms or symptoms are relatively mild.
Treatment of colpocephaly
The prognosis in cases of colpocephaly can vary greatly depending on the severity of the underlying and associated brain abnormalities, since this anomaly is usually a sign of other disorders of greater clinical significance. The severity of most brain disorders depends on the degree to which neural development is affected.
There is no specific treatment for colpocephaly, since it is a disorder of the brain.There is no specific treatment for colpocephaly, since it is a structural disorder of the brain. Therapy, therefore, tends to be symptomatic; for example, antiepileptic drugs are prescribed to prevent seizures and physical therapy is used to minimize muscle contractures and motor problems.
A great deal of research is currently being conducted on brain development and research is currently being conducted on brain development and in particular neurulation, the process of neural tube development.the process of development of the neural tube, from which the nervous system is formed. Increased knowledge of the relevant genes and teratogenic factors is expected to reduce the risk of colpocephaly in the general population.
One particularly promising line of treatment involves the use of stem cells; in particular, research is underway on the possibility of using oligodendrocytes (a type of neuroglia) to enhance the synthesis of myelin, which coats neuronal axons and accelerates neuronal transmission; this could alleviate the symptoms of colpocephaly.
(Updated at Apr 12 / 2024)