The Colpocephaly Is a congenital brain anomaly 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 and the development of seizures and seizures (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 abnormal 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 generally performed in the pre or perinatal period (Esenwa & Leaf, 2013), diagnosis in adult life is very rare (Bartolomé et al., 2013).
On the other hand, the prognosis of people with colpocephaly depends fundamentally on the severity of the disease, 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 colpocephaly is mainly aimed at the treatment of secondary pathologies, such as convulsions (National Institute of Neurological Disorders and Stroke, 2015).
Characteristics of colpocephaly
The Colpocephaly Is a neurological disorder of the congenital type, that is, there is an alteration of the normal and efficient development of the nervous system, in this case, of various brain areas during gestation.
Specifically, congenital alterations affecting the central nervous system (CNS) are a major cause of fetal mortality and morbidity (Piro, Alongi et al., 2013).
The World Health Organization (WHO) reports that about 276,000 newborns die during the first four weeks of life as a result of some form of congenital disease.
In addition, these types of anomalies represent one of the most important causes of impairment of functionality in the child population as they result in 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 cerebral structure and are known with term of" Encephalic disorders ".
The Encephalic disorders Are related to the presence of various alterations or abnormalities of the central nervous system originated during the early stages of fetal development (Quenta Huayhua, 2014).
The development of the nervous system (SN) in the prenatal and postnatal stages follows a series of processes and events of high complexity, based fundamentally on several neurochemical events, genetically programmed and really susceptible to external factors, such as environmental influence.
When it occurs A congenital malformation of the nervous system , Structures and / or functions will begin to develop abnormally, having serious consequences for the individual, both physically and cognitively.
Specifically, colpocephaly is a pathology that affects the development of The lateral ventricles , In particular, to the Posterior or occipital areas (Gary et al., 1992) which results in an abnormally large growth of the occipital grooves.
This congenital malformation known as colpocephaly was initially described by Benda In 1940 and referenced in several clinical reports by Yakovlev Y Wadsworth In 1946 (Nigro et al., 1991).
However, the term colpocephaly was later used to refer to a pathology characterized by persistent fetal configuration of the cerebral ventricles where the occipital horns appear to be dilated and abnormally large (Flores-Sarnat, 2016).
Although it is a poorly reviewed medical condition 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).
About us
Colpocephaly is a very rare congenital malformation. Although there are no recent figures, as of 1992, approximately 36 different cases of individuals affected by this pathology have been described (Gary et al., 1992)
The lack of statistical data on this pathology may be due to the lack of consensus on the clinical characteristics, as well as to the diagnostic errors, since it is associated with different medical conditions.
Signs and symptoms
The structural finding characteristic of colpocephaly is the presence of a widening or pleasing of the occipital horns of the lateral ventricles (Nigro et al., 1991).
In the interior of our brain we can find a system of cavities communicated to each other and bathed by cerebrospinal fluid (CSF), the ventricular system (Waxman, 2011).
This liquid contains proteins, Electrolytes And some cells. In addition to protecting against possible trauma, cerebrospinal fluid Has an important role in the maintenance of cerebral homeostasis, through its nutritive, 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 (horns) (Waxman, 2011)
Specifically, the Posterior or occipital horn , Extends to the occipital lobe and its roof is formed by the different fibers of the hard body (Waxman, 2011).
Therefore, any type of alteration that causes malformation or various damages and injuries to the lateral ventricles may result in 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, corpus callosum agenesis, lysecephaly, cerebellar hypoplasia, motor alterations, muscle spasms, convulsive episodes and optic nerve hypoplasia (Gary et al. Al., 1992, Quenta Huayhua, 2014).
Microcephaly
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 growing (National Institute of Neurological Disorder and Stroke, 2016).
It is a rare or rare disorder, however, the severity of microcephaly is variable and many children with microcephaly may experience different neurological and cognitive impairments and delays (Boston Children's Hospital, 2016).
Individuals who develop microcephaly may have recurrent seizures, various physical disabilities, and learning disabilities, among others (World Health Organization, 2016).
Cerebral palsy
The term Cerebral palsy Refers to a group of neurological disorders affecting the areas in charge of motor control (National Institute of Neurological Disorders and Stroke, 2016).
Injury and injury usually occur during fetal development or at the early stages 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 degree of affection, but may also be accompanied by sensory and / or intellectual disability (Confederation ASPACE, 2012).
Therefore, several sensory, cognitive, communication, perception, behavioral deficits may be associated with this pathology, Epileptic seizures , etc. (Muriel et al., 2014).
Myelomeningocele
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 extremities (World Health Organization, 2012).
On the basis of the affected areas, we can differentiate four types of spina bifida: hidden, defects of the closed neural tube, meningocele and myelomeningocele (National Institute of NeurologicalDisorders and Stroke, 2006).
Specifically, myelomenigocele or also known as open spina bifida, is considered the most serious subtype (Mayo Clinic, 2014).
At the anatomical level, one can observe how the spinal canal is exposed or open along one or several spinal segments, in the middle or lower back. In this way, the meninges and the spinal cord , Protruding into a sack in the back (Mayo Clinic, 2014).
As a consequence, individuals with a diagnosis of Myelomeningocele May present a significant neurological involvement that includes symptoms such as: muscle weakness and / or paralysis of the lower extremities; Intestinal alterations, convulsions and orthopedic alterations, among others (Mayo Clinic, 2014).
Agenesis of the corpus callosum
The 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 (National Institute of Neurological Disorders and Stroke, 2014).
This type of pathology is usually associated with other medical conditions such as Chiari malformation, Angeleman's syndrome, Dandy-Walker syndrome, ski-fever, holoprosencephaly, etc. (National Institute of Neurological Disorders and Stroke, 2014).
The clinical consequences of agenesis of the corpus callosum vary significantly among those affected, although some common features are: deficit in the ratio of visual patterns, intellectual retardation, convulsions or spasticity (National Institute of Neurological Disorders and Stroke, 2014).
Lisencephaly
The Lisencephaly Is a congenital malformation that is also part of the brain disorder group (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, muscular spasms, seizures, etc. (National Institute of Neurological Disorders and Stroke, 2010).
Seizures
Seizures or epileptic seizures occur as a consequence of unusual neural activity, ie, habitual activity is altered causing convulsions or periods of unusual behavior and sensations, and may sometimes lead to loss of consciousness (Mayo Clinic, 2015 ).
The symptoms of seizures and seizures can vary considerably depending on both the brain area in which it occurs and the person who has them (Mayo Clinic, 2015).
Some of the clinical features of seizures are: temporal confusion, uncontrolled limb jerking, loss of consciousness, and / or epileptic absence (Mayo Clinic, 2015).
The episodes in addition to assuming a situation of danger for 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.
Cerebellar hypoplasia
The Cerebellar hypoplasia Is a neurological pathology characterized by the absence of a complete and functional development of the cerebellum (Hypoplasia, 2013).
The cerebellum Is one of the largest areas of our nervous system. Although it has traditionally been attributed motor functions (coordination and execution of motor acts, maintenance of muscle tone, balance, etc.), in the last decades its participation in several complex cognitive processes has been emphasized.
Recently, different studies have shown a strong association between structural and functional abnormalities of the cerebellum and different psychiatric disorders, especially the 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., 2013, Tomasi et al., 2012, Wang et al., 2013), and Autism (Marko et al., 2015, Weigiel et al., 2014).
Optic nerve hypoplasia
The Hypoplasia of the optic nerve Is another type of neurological alteration 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 (Hypoplasia, 2013).
Among the medical consequences that can derive from this pathology we can emphasize: diminished vision, partial or total blindness and / or abnormal eye movements (Hypoplasia, 2013).
In addition to visual disturbances, optic nerve hypoplasia is usually associated with other secondary complications such as: cognitive deficit, Morsier's syndrome, motor and linguistic alterations, hormonal deficit, among others (Hypoplasia, 2013).
Intellectual deficit and motor impairment
As a result of colpocephaly pacing, affected individuals may present a generalized cognitive maturational delay, that is, the development of their attentional, linguistic, memory and praxis skills will be lower than expected for their age group and educational level.
On the other hand, alterations related to the motor sphere may present muscle spasms, altered muscle tone, among other symptoms.
Causes
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 exactly known, genetic mutations, neuronal migration disorders, exposure to radiation and / or consumption of toxic substances or infections, as possible etiological causes of The colpocephalia (Quenta Huayhua, 2014).
Diagnosis
Colpocephaly is a type of cerebral malformation that can be diagnosed before birth if it is demonstrated that there is an enlargement of the occipital horns of the lateral ventricles (Gary et al., 1992).
Some of the diagnostic techniques used in this pathology are ultrasound ultrasound, magnetic resonance imaging, computed tomography, pneumoencephalography and ventriculography.
Is there treatment for colpocephaly?
There is currently no specific treatment for colpocephaly. Therefore, the interventions will depend on the degree of involvement and the symptoms secondary to this pathology.
Interventions are usually directed at controlling seizures, prevention of muscle disorders, rehabilitation of motor function, and cognitive rehabilitation (Gary et al., 1992).
Bibliography
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