Colpocephaly: what it is, causes, symptoms and treatment

There are multiple factors that can cause defects in brain formation during development intrauterine or later, such as contact with toxic substances or the inheritance of mutations genetics.

In this article we will describe the causes, symptoms and treatment of colpocephaly, a rare disorder of brain development.

• Related article: "The 15 most frequent neurological disorders"

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, the cavities through which the cerebrospinal fluid circulates, which fulfills 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 the 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 set of structural alterations that are known as “cephalic disorders”. By definition, this category encompasses all anomalies and damage 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 frequently misdiagnosed as hydrocephalus, and treatment of this disorder can lead to signs of colpocephaly.

Causes of this alteration

The causes of colpocephaly are varied, although they always interfere with the development of the brain causing it to the white matter (the set of fibers formed by the axons of neurons) has a density lower than the normal. This causes, as well as indicates, a disturbed functioning of the transmission of electrochemical impulses in the brain.

Between the most common causes of colpocephaly we found the following:

• Genetic defects such as trisomies of chromosomes 8 and 9
• X-linked recessive inheritance
• Alterations in the neuronal migration process
• Contact with teratogens during intrauterine development (eg. and. alcohol, corticosteroids)
• Perinatal head injuries (eg. and. ischemic anoxia)
• Hydrocephalus and sequelae of its treatment
• Absence (agenesia) or incomplete development (dysgenesis) of the corpus callosum
• Other disorders of the central nervous system and its development

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 its 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 with other disorders affecting the central nervous systemespecially its development. These include microcephaly, lissencephaly, agenesis, dysgenesis and lipoma of the corpus callosum, schizencephaly, cerebellar atrophy or Chiari malformations.

Nerve disorders can cause various symptoms and signs, including include cognitive deficits, motor dysfunctions, the appearance of seizures and muscle spasms, language disturbances, and visual and hearing deficits. A frequently associated morphological abnormality is reduced head size (microcephaly).

However, since the severity of the morphological abnormalities that cause colpocephaly differs in depending on the case, sometimes this disorder does not have symptoms or these have a relatively mild.

Treatment of colpocephaly

The prognosis in cases of colpocephaly can vary greatly depending on the severity of the alterations. underlying and associated brain abnormalities, as this abnormality is usually a sign of other more significant disorders clinic. 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; Thus, for example, antiepileptic drugs are prescribed to prevent seizures and physical therapy is used to minimize muscle contractures and motor problems.

There are currently many research on brain development and in particular neurulation, the developmental process of the neural tube, from which the nervous system is formed. Increased knowledge about genes and relevant teratogenic factors is expected to reduce the risk of colpocephaly in the general population.

A particularly promising line of treatment is the one that refers to the use of stem cells; Specifically, the possibility of using oligodendrocytes (a type of neuroglia) to enhance the synthesis of myelin, which covers neuronal axons and accelerates neuronal transmission; this could alleviate the symptoms of colpocephaly.