Colpocephaly: what is it, causes, symptoms and treatment

There are multiple factors that can cause abnormalities in the formation of the brain during or after uterine development, 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.

    What is colpocephaly?

    Colpocephaly is a congenital morphological abnormality of the brain characterized by disproportionate size of the occipital spines of the lateral ventricles, The cavities through which cerebrospinal fluid circulates, which performs functions similar to those of the blood inside the skull. This 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 respectively as “head” and “empty”. This disorder had been described 6 years earlier by Benda, who had given it the name of “vesiculocephaly”.

    Colpocephaly is part of the set of structural changes called “head disorders”. By definition, this category includes all abnormalities and lesions affecting the head and in particular the brain, such as anencephaly, lysencephaly, macrocephaly, microcephaly and schizencephaly.

    In any case, it is a very rare disease. Although there are no precise data on the prevalence of colpocephaly, between 1940, the year of its first description, and 2013, barely 50 cases had been identified in the medical literature.

    It is important to distinguish between colpocephaly and hydrocephalus, Which consists of a build-up of cerebrospinal fluid in the brain which causes symptoms resulting from increased cranial pressure. Cases of colpocephaly are often misdiagnosed as hydrocephalus, and treatment for 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 by giving the white matter (the set of fibers formed by the axons of neurons) a density lower than normal. This causes, while indicating, an altered functioning of the transmission of electrochemical impulses in the brain.

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

    • Genetic defects such as trisomies on chromosomes 8 and 9
    • Recessive inheritance associated with the X chromosome
    • Alterations in the neuronal migration process
    • Contact with teratogenic agents during intrauterine development (eg, alcohol, corticosteroids)
    • Perinatal head trauma (eg, ischemic anoxia)
    • Hydrocephalus and sequelae of its treatment
    • Absence (agenesis) or incomplete development (dysgenesis) of the corpus callosum
    • Other disorders of the central nervous system and its development

    Main symptoms and signs

    The basic sign of colpocephaly is the disproportionate size of the occipital rods of the lateral ventricles compared to the rest of their sections. This indicates a reduction in the rate of brain development, or stopping it at an early stage.

    Colpocephaly does not usually occur in isolation, but in general it occurs along with other disorders that affect the central nervous system, Especially in its development. These include microcephaly, lysencephaly, agenesis, dysgenesis and lipoma of the corpus callosum, schizencephaly, cerebellar atrophy, or Chiari malformations.

    Nervous disorders can cause a variety of symptoms and signs, including cognitive deficits, motor dysfunctions, the appearance of convulsions stand out and muscle spasms, speech disorders, and visual and hearing deficits. A frequently associated morphological abnormality is reduction in the size of the head (microcephaly).

    However, and since the severity of the morphological abnormalities that cause colpocephaly differs from case to case, this disorder sometimes has no symptoms or is relatively mild.

    Treatment of colpocephaly

    The prognosis for colpocephaly can vary widely depending on the severity of the underlying and associated brain disorders, as this anomaly is usually a sign of other disorders of greater clinical importance. 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 of the symptomatic type; thus, for example, anti-epileptic drugs are prescribed to prevent seizures and physical therapy is used to minimize muscle contractures and motor problems.

    Many are in progress research on brain development and in particular neurulation, Developmental process of the neural tube, from which the nervous system is formed. Better knowledge of the relevant genes and teratogenic factors should reduce the risk of colpocephaly in the general population.

    A particularly promising line of treatment is that concerning the use of stem cells; in particular, the possibility of using oligodendrocytes (a type of neuroglia) to improve the synthesis of myelin, which covers neuronal axons and accelerates neuronal transmission, is under investigation; this could relieve the symptoms of colpocephaly.

    Bibliographical references:

    • Benda, CE (1940). Microcephaly. American Journal of Psychiatry, 97: 1135-46.
    • Puvabanditsin, S., Garrow, E., Ostrerov, Y., Trucanu, D., Ilic, M. and Cholenkeril, JV (2006). Colpocephaly: case report. American Journal of Perinatology, 23 (5): 295-297.
    • Yakovlev, PI and Wadsworth, RC (1946). Schizencephaly: study of congenital cracks in the cerebral mantle: I. Fissures in the fused lips. Journal of Neuropathology and Experimental Neurology, 5: 116-130.

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