The colpocephaly is a congenital brain abnormality that affects the structure of the ventricular system. At the anatomical level, the brain shows a significant dilation of the occipital horns of the lateral ventricles. It is possible to observe that the posterior portion of the lateral ventricles is larger than expected due to an abnormal development of the white matter.
The clinical manifestation of this pathology appears early in the first years of life and is characterized by cognitive and motor maturational delay and the development of seizures and epilepsy.
Although the specific cause of colpocephaly has not yet been discovered, this type of pathology can result from the development of some abnormal process during embryonic development around the second and sixth month of gestation.
The diagnosis of colpocephaly is generally made in the pre or perinatal period, the diagnosis in adult life is very infrequent.
On the other hand, the prognosis of people with colpocephaly depends fundamentally on the severity of the pathology, the degree of brain development and the presence of other types of medical complications.
The medical intervention of colpocephaly is mainly oriented to the treatment of secondary pathologies, such as seizures.
Characteristics of colpocephaly
Colpocephaly is a congenital neurological disorder, that is, there is an alteration of the normal and efficient development of the nervous system , in this case, of various brain areas during pregnancy.
Specifically, congenital disorders that affect the central nervous system (CNS) are one of the main causes of fetal mortality and morbidity.
The World Health Organization (WHO) indicates that around 276,000 newborns die during the first four weeks of life as a result of suffering from some type of congenital pathology.
In addition, these types of abnormalities represent one of the most important causes of impaired functionality in the child population since they give rise to a wide variety of neurological disorders.
On the other hand, colpocephaly is classified within a group of pathologies that affect the brain structure and are known as “encephalic disorders”.
Brain disorders refer to the presence of various alterations or abnormalities of the central nervous system originating during the early stages of fetal development.
The development of the nervous system (NS) in the prenatal and postnatal stages follows a series of highly complex processes and events, fundamentally based on various neurochemical events, genetically programmed and really susceptible to external factors, such as environmental influence.
When a congenital malformation of the nervous system takes place, structures and / or functions will begin to develop in an abnormal way, having serious consequences for the individual, both physically and cognitively.
Specifically, colpocephaly is a pathology that affects the development of the lateral ventricles, specifically, the posterior or occipital areas, resulting in an abnormally large growth of the occipital grooves.
Although it is a medical condition little reviewed in the medical and experimental literature, it has been associated with the presence of seizures, mental retardation and various sensory and motor alterations.
Colpocephaly is a very rare congenital malformation. Despite the fact that there are no recent figures, as of 1992 approximately 36 different cases of individuals affected by this pathology had been described.
The absence of statistical data on this pathology may be the result of both the lack of consensus on the clinical characteristics, as well as the errors of diagnosis, since it appears associated with different medical conditions.
Signs and symptoms
The characteristic structural finding of colpocephaly is the presence of a widening or enlargement of the occipital horns of the lateral ventricles.
Inside our brain we can find a system of cavities interconnected and bathed by cerebrospinal fluid (CSF), the ventricular system.
This liquid contains proteins, electrolytes, and some cells. In addition to protecting against possible trauma, cerebrospinal fluid plays an important role in the maintenance of brain homeostasis, through its nutritional, immunological and inflammatory function (Chauvet and Boch, X).
The lateral ventricles are the largest portions of this ventricular system and are made up of two central areas (body and atrium) and three extensions (horns).
Specifically, the posterior or occipital horn extends to the occipital lobe and its roof is formed by the different fibers of the corpus callosum.
Therefore, any type of alteration that causes a malformation or diverse damages and injuries in the lateral ventricles can give rise to a wide variety of neurological signs and symptoms.
In the case of colpocephaly, the most common clinical features include: cerebral palsy, intellectual deficit, microcephaly, myelomeningocele, agenesis of the corpus callosum, lisecephaly, cerebellar hypoplasia, motor disorders, muscle spasms, seizures, and optic nerve hypoplasia.
Microcephaly is a medical condition in which the size of the head is smaller than normal or expected (smaller compared to your age group and gender) because the brain has not developed properly or has stopped to grow.
It is a rare or uncommon disorder, however, the severity of microcephaly is variable and many children with microcephaly may experience different neurological and cognitive disorders and delays.
It is possible that those individuals who develop microcephaly present recurrent seizures, various physical disabilities, learning deficits, among others.
The term cerebral palsy (CP) refers to a group of neurological disorders that affect the areas responsible for motor control.
Damages and injuries generally occur during fetal development or early in postnatal life and permanently affect body movement and muscle coordination, but they will not progressively increase in severity.
Normally, cerebral palsy will cause a physical disability that varies in its degree of affectation, but in addition, it may also appear accompanied by a sensory and / or intellectual disability.
Therefore, various sensory, cognitive, communication, perception, behavioral deficits, epileptic seizures, etc. may appear associated with this pathology.
By the term myelomeningocele we refer to one of the types of spina bifida.
Spina bifida is a congenital malformation that affects various structures of the spinal cord and vertebral column and, in addition to other alterations, can cause paralysis of the lower limbs or extremities.
Based on the affected areas, we can differentiate four types of spina bifida: occult, closed neural tube defects, meningocele, and myelomeningocele. Specifically, myelomenigocele, also known as open spina bifida, is considered the most serious subtype.
At the anatomical level, it can be seen how the spinal canal is exposed or open along one or more spinal segments, in the middle or lower back. In this way, the meninges and the spinal cord, protrude forming a sac in the back.
As a consequence, individuals with a diagnosis of myelomeningocele may present with significant neurological involvement that includes symptoms such as: muscle weakness and / or paralysis of the lower extremities; intestinal disorders, seizures and orthopedic disorders, among others.
Agenesis of the corpus callosum
Agenesis of the corpus callosum is a type of congenital neurological pathology that refers to a partial or complete absence of the structure that connects the cerebral hemispheres, the corpus callosum.
This type of pathology is usually associated with other medical conditions such as Chiari malformation, Angeleman syndrome, Dandy-Walker syndrome, schiecephaly, holoprosencephaly, etc.
The clinical consequences of agenesis of the corpus callosum vary significantly among those affected, although some common characteristics are: deficit in the relationship of visual patterns, intellectual delay, seizures or spasticity.
Lissencephaly is a congenital malformation that is also part of the group of brain disorders. This pathology is characterized by the absence or partial development of the cerebral convolutions of the cerebral cortex.
The brain surface presents an abnormally smooth appearance and can lead to the development of microcephaly, facial changes, psychomotor retardation, muscle spasms, seizures, etc.
Seizures or seizures occur as a result of unusual neuronal activity, that is, habitual activity is disturbed causing seizures or periods of unusual behavior and sensations and can sometimes lead to loss of consciousness,
The symptoms of seizures and epileptic seizures can vary considerably depending on both the area of the brain in which they occur and the person who suffers from them.
Some of the clinical features of seizures are: temporary confusion, uncontrolled shaking of the limbs, loss of consciousness, and / or epileptic absence.
The episodes, in addition to being a dangerous situation for the individual affected by the risk of falls, drowning or traffic accidents, are an important factor in the development of brain damage due to abnormal neuronal activity.
Cerebellar hypoplasia is a neurological pathology characterized by the absence of a complete and functional development of the cerebellum .
The cerebellum is one of the largest areas of our nervous system. Although motor functions have traditionally been attributed to it (coordination and execution of motor acts, maintenance of muscle tone, balance, etc.), in recent decades its participation in various complex cognitive processes has been highlighted.
Optic nerve hypoplasia
Optic nerve hypoplasia is another type of neurological disorder that affects the development of the optic nerves. Specifically, the optic nerves are smaller than expected for the sex and age group of the affected person.
Among the medical consequences that can derive from this pathology we can highlight: decreased vision, partial or total blindness and / or abnormal eye movements.
In addition to visual disturbances, optic nerve hypoplasia is usually associated with other secondary complications such as: cognitive deficit, Morsier syndrome, motor and linguistic disturbances, hormonal deficit, among others.
Intellectual deficit and motor disturbances
As a result of colpocephaly, affected individuals may present a generalized cognitive maturation delay, that is, the development of their attentional, linguistic, memory and practical skills will be lower than expected for their age group and educational level.
On the other hand, among the alterations related to the motor sphere, muscle spasms, alteration of muscle tone, among other symptoms may occur.
Colpocephaly occurs when there is a lack of thickening or myelination of the occipital areas.
Although the cause of this alteration is not exactly known, genetic mutations, neuronal migration disorders, exposure to radiation and / or consumption of toxic substances or infections have been identified as possible etiological causes of colpocephaly.
Colpocephaly is a type of brain malformation that can be diagnosed before birth if it is possible to demonstrate the existence of an enlargement of the occipital horns of the lateral ventricles.
Some of the diagnostic techniques used in this pathology are: ultrasound ultrasound, magnetic resonance, computerized tomography, pneumoencephalography and ventriculography.
Is there a treatment for colpocephaly?
There is currently no specific treatment for colpocephaly. Therefore, the interventions will depend on the degree of affectation and the secondary symptoms to this pathology.
Generally, interventions are aimed at controlling seizures, prevention of muscle disorders, rehabilitation of motor function, and cognitive rehabilitation.
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