The colpocephaly is a congenital brain abnormality that affects the structure of the ventricular system (Esenwa & Leaf, 2013). At the anatomical level, the brain presents a significant dilation of the occipital horns of the lateral ventricles (Pérez-Castrillón et al., 2001).
It is possible to observe how the posterior portion of the lateral ventricles is larger than expected due to an abnormal development of the white matter (National Institute of Neurological Disorders and Stroke, 2015).
The clinical manifestation of this pathology appears early in the first years of life and is characterized by cognitive, motor maturational delay and the development of convulsive episodes and epilepsy symptoms (Bartolomé et al., 2013).
Although the specific cause of colpocephaly has not yet been discovered, this type of pathology may result from the development of some anomalous process during embryonic development around the second and sixth month of gestation (National Institute of Neurological Disorders and Stroke, 2015). ).
The diagnosis of colpocephaly is usually made in the pre or perinatal period (Esenwa & Leaf, 2013), the diagnosis in adult life is very infrequent (Bartolomé et al., 2013).
On the other hand, the prognosis of people suffering from colpocephaly depends fundamentally on the severity of the pathology, the degree of brain development and the presence of other types of medical complications (National Institute of Neurological Disorders and Stroke, 2015).
The medical intervention of the colpocephaly is mainly oriented to the treatment of secondary pathologies, such as seizures (National Institute of Neurological Disorders and Stroke, 2015).
Characteristics of colpocephaly
The colpocephaly is a neurological disorder congenital type, that is, an alteration of normal and efficient nervous system development occurs, in this case, various brain areas during gestation.
Specifically, congenital alterations affecting the central nervous system (CNS) are one of the main causes of fetal mortality and morbidity (Piro, Alongi et al., 2013).
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, this type of anomalies represent one of the most important causes of impairment of functionality in the child population since they give rise to a wide variety of neurological disorders (Herman-Sucharska et al, 2009).
On the other hand, colpocephaly is classified within a group of pathologies that affect the brain structure and are known as ” encephalic disorders “.
The cephalic disorders refer to the presence of various disorders or abnormalities of central nervous system caused during early fetal development (Quenta Huayhua, 2014).
The development of the nervous system (SN) in the prenatal and postnatal stages follows a series of highly complex processes and events, based fundamentally 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 abnormally, with 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 (Gary et al., 1992) that leads to an abnormally large growth of the occipital grooves.
This congenital malformation known as colpocephaly was first described by Benda in 1940 and referenced in several clinical reports by Yakovlev and Wadsworth in 1946 (Nigro et al., 1991).
However, later the term colpocephaly was used to refer to a pathology characterized by a persistence of the fetal configuration of the cerebral ventricles where the occipital horns are dilated and abnormally large (Flores-Sarnat, 2016).
Although it is a medical condition little reviewed in the medical and experimental literature, it has been associated with the presence of convulsive episodes, mental retardation and various sensory and motor alterations (Nigro et al., 1991).
Colpocephaly is a very rare congenital malformation. Although there are no recent figures, as of the year 1992 approximately 36 different cases of individuals affected by this pathology had been described (Gary et al., 1992)
The absence of statistical data of this pathology can be the result of a lack of consensus on clinical characteristics, as well as of diagnostic errors, since it appears associated with different medical conditions.
Signs and symptoms
The characteristic structural finding of colpocephaly is the presence of a widening or flattening of the occipital horns of the lateral ventricles (Nigro et al., 1991).
Inside our brain we can find a system of cavities communicated with each other and bathed by cerebrospinal fluid (CSF), the ventricular system (Waxman, 2011).
This fluid contains proteins, electrolytes and some cells. In addition to protecting against possible trauma, cerebrospinal fluid plays an important role in the maintenance of cerebral 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 formed by two central areas (body and atrium) and three extensions (antlers) (Waxman, 2011)
Specifically, the posterior or occipital horn extends to the occipital lobe and its roof is formed by the different fibers of the corpus callosum (Waxman, 2011).
Therefore, any type of alteration that causes a malformation or various injuries and injuries in the lateral ventricles may lead 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, lysecephaly, cerebellar hypoplasia, motor alterations, muscle spasms, convulsive episodes and optic nerve hypoplasia (Gary et al. al., 1992; Quenta Huayhua, 2014).
The microcephaly is a medical condition in which the head size is smaller than normal or expected (smaller compared to their age group and sex) because the brain has not developed properly or has stopped to grow (National Institute of Neurological Disorder and Stroke, 2016).
It is a rare or rare alteration, however, the severity of microcephaly is variable and many children with microcephaly may experience different alterations and neurological and cognitive delays (Boston Children’s Hospital, 2016).
It is possible that those individuals who develop microcephaly present recurrent convulsive episodes, various physical disabilities, learning deficits, among others (World Health Organization, 2016).
The term cerebral palsy (CP) refers to a group of neurological disorders that affect the areas responsible for motor control (NationalInstitute of NeurologicalDisorders and Stroke, 2016).
Damages and injuries usually take place during fetal development or in the initial moments of postnatal life and will permanently affect body movement and muscle coordination, but will not progressively increase in severity (National Institute of Neurological Disorders and Stroke, 2016).
Normally, cerebral palsy will cause a physical disability that varies in its degree of involvement, but also may also be accompanied by a sensory and / or intellectual disability (ASPACE Confederation, 2012).
Therefore, various sensory, cognitive, communication, perception, behavior, epileptic crisis, etc. deficits may be associated with this pathology . (Muriel et al., 2014).
With the term myelomeningocele we refer to one of the types of spina bifida .
The spina bifida is a congenital malformation that affects various structures of the spinal cord and spine and in addition to other alterations, can cause paralysis of the limbs or lower limbs (World Health Organization, 2012).
Based on the affected areas, we can differentiate four types of spina bifida: occult, closed neural tube defects, meningocele and myelomeningocele (NationalInstitute of NeurologicalDisorders and Stroke, 2006).
Specifically, myelomenigocele, also known as open spina bifida, is considered the most serious subtype (Mayo Clinic, 2014).
At the anatomical level, it can be observed 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 on the back (Mayo Clinic, 2014).
As a consequence, individuals with a diagnosis of myelomeningocele can present a significant neurological involvement that includes symptoms such as: muscle weakness and / or paralysis of the lower extremities; intestinal alterations, seizures and orthopedic alterations, among others (Mayo Clinic, 2014).
Agenesis of the corpus callosum
The agenesis of corpus callosum is a type of congenital neurological disease which refers to a partial or complete absence of the structure that connects the cerebral hemispheres, the corpus callosum (National Institute of Neurological disordes and Stroke, 2014).
This type of pathology is usually associated with other medical conditions such as Chiari malformation, Angeleman syndrome, Dandy-Walker syndrome, schiecephaly, holoprosencephaly, etc. (National Institute of Neurological Disorders and Stroke, 2014).
The clinical consequences of the agenesis of the corpus callosum vary significantly among those affected, although some common characteristics are: deficit in the relationship of visual patterns, intellectual retardation, seizures or spasticity (National Institute of Neurological Disorders and Stroke, 2014).
The lissencephaly is a congenital malformation that is also part of the group of brain disorders (National Organization for Rare Disorders, 2012).
This pathology is characterized by the absence or partial development of the cerebral convolutions of the cerebral cortex (National Organization for Rare Disorders, 2012).
The brain surface presents an abnormally smooth appearance and can lead to the development of microcephaly, facial alterations, psychomotor retardation, muscle spasms, seizures, etc. (National Institute of Neurological Disorders and Stroke, 2010).
Convulsive episodes or epileptic seizures occur as a result of unusual neuronal activity, that is, habitual activity is altered causing seizures or periods of unusual behavior and sensations and can sometimes result in the loss of consciousness (Mayo Clinic., 2015 ).
The symptoms of seizures and epileptic seizures can vary considerably depending on the brain area in which it occurs and the person who suffers (Mayo Clinic., 2015).
Some of the clinical characteristics of seizures are: temporary confusion, uncontrolled shaking of the extremities, loss of consciousness and / or epileptic absence (Mayo Clinic., 2015).
The episodes in addition to posing a situation of danger to the individual affected by the risk of falls, drownings, traffic accidents etc … are an important factor in the development of brain damage due to abnormal neuronal activity.
The cerebellar hypoplasia is a neurological disorder characterized by the absence of a fully functional cerebellar development (hypoplasia, 2013).
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 actions, maintenance of muscle tone, balance, etc.), its participation in various complex cognitive processes has been highlighted in recent decades.
Recently, different studies have shown a strong association between structural and functional abnormalities of the cerebellum and different psychiatric disorders, especially schizophrenia (Chen et al., 2013, Fatemi et al., 2013), bipolar disorder (Baldacara et al., 2011; Liang et al., 2013), depression, anxiety disorders (Nakao et al., 2011; Schutter et al., 2012; Talati et al., 2013), attention deficit hyperactivity disorder (ADHD) (An et al. al., 2013; Tomasi et al., 2012; Wang et al., 2013), and autism (Marko et al., 2015; Weigiel et al., 2014).
Hypoplasia of the optic nerve
The optic nerve hypoplasia is another type of neurological disorder affecting development of the optic nerves. Specifically, the optic nerves are smaller than expected for the sex and age group of the affected person (Hypoplasia, 2013).
Among the medical consequences that may arise from this pathology we can highlight: decreased vision, partial or total blindness and / or abnormal eye movements (Hypoplasia, 2013).
In addition to visual alterations, optic nerve hypoplasia is usually associated with other secondary complications such as: cognitive deficit, Morsier syndrome, motor and linguistic disorders, hormonal deficit, among others (Hypoplasia, 2013).
Intellectual deficit and motor alterations
As a result of the colpocephalic process, affected individuals may present a generalized cognitive maturational delay, that is, the development of their attentional, linguistic, memory and praxis abilities will be lower than expected for their age group and educational level.
On the other hand, among the alterations related to the motor sphere may be muscle spasms, muscle tone alteration, among other symptoms.
The colpocephaly occurs when there is a lack of thickening or myelination of the occipital areas (Quenta Huayhua, 2014).
Although the cause of this alteration is not known, genetic mutations, disorders of neuronal migration, exposure to radiation and / or consumption of toxic substances or infections, as possible etiological causes of the colpocephaly (Quenta Huayhua, 2014).
Colpocephaly is a type of brain malformation that can be diagnosed before birth if the existence of an enlargement of the occipital horns of the lateral ventricles can be demonstrated (Gary et al., 1992).
Some of the diagnostic techniques used in this pathology are: ultrasound by ultrasound, magnetic resonance, computerized tomography, pneumoencephalography and ventriculography.
Is there a treatment for colpocephaly?
Currently there is no specific treatment for colpocephaly. Therefore, the interventions will depend on the degree of affectation and the symptoms secondary to this pathology.
Generally, interventions are aimed at controlling seizure episodes, prevention of muscle disorders, rehabilitation of motor function and cognitive rehabilitation (Gary e