Colpocephaly: What It Is, Causes, Symptoms And Treatment
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 The causes, symptoms and treatment of colpocephaly a rare disorder of brain development.
Colpocephaly is a congenital morphological anomaly of the brain characterized by a disproportionately large size of the occipital horns of the lateral ventricles, the cavities through which cerebrospinal fluid circulates, which performs functions similar to those of blood inside the skull. It can be due to different brain disorders.
The term “colpocephaly” was coined in 1946 by neurologist Paul Ivan Yakovlev and 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 the group of structural alterations that are known as “cephalic disorders” By definition, this category includes all anomalies and damages that affect the head and especially the brain, such as anencephaly, lissencephaly, macrocephaly, microcephaly and schizencephaly.
In any case, it is a very rare disorder. Although there are no precise data on the prevalence of colpocephaly, between 1940, the year in which it was first described, and 2013, only 50 cases had been identified in the medical literature.
It is important to distinguish colpocephaly from hydrocephalus, consisting of an accumulation of cerebrospinal fluid in the brain that causes symptoms derived from increased cranial pressure. Cases of colpocephaly are often misdiagnosed as hydrocephalus, and treatment of this disorder can result in signs of colpocephaly.
The causes of colpocephaly are varied, although they always interfere with brain development, causing the white matter (the set of fibers formed by neuron axons) 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.
Between the most common causes of colpocephaly we find the following:
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 it at an early stage.
Colpocephaly does not usually occur in isolation, but in general occurs together with other disorders that affect the central nervous system, especially its development. These include microcephaly, lissencephaly, agenesis, dysgenesis and lipoma of the corpus callosum, schizencephaly, cerebellar atrophy or Chiari malformations.
Nervous disorders can cause various symptoms and signs, among which Cognitive deficits, motor dysfunctions, the appearance of seizures stand out and muscle spasms, language alterations, and visual and auditory deficits. A frequently associated morphological anomaly is reduced head size (microcephaly).
However, and given that the severity of the morphological anomalies that cause colpocephaly differs depending on the case, sometimes this disorder does not cause symptoms or they 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 alterations, given that 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 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.
Currently, many are being carried out research on brain development and in particular neurulation, the process of development of the neural tube, from which the nervous system is formed. Increasing knowledge about relevant genes and teratogenic factors is expected to reduce the risk of colpocephaly in the general population.
An especially promising line of treatment is the use of stem cells; Specifically, the possibility of using oligodendrocytes (a type of neuroglia) is being investigated to enhance the synthesis of myelin, which covers neuronal axons and accelerates neuronal transmission; This could relieve the symptoms of colpocephaly.
