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Colpocephaly is a type of cephalic disorder and is caused by abnormal development of the nervous system. The information below begins by describing cephalic disorders and the human nervous system, followed by information specific to colpocephaly.
What are cephalic disorders?
Cephalic disorders are
congenital conditions that stem from damage to or the abnormal development of the budding nervous system. Cephalic is a term that means 'head.' Congenital means the disorder is present at, and usually before, birth.
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Last updated: 7/8/2013
What causes cephalic disorders?
Cephalic disorders are not necessarily caused by a single factor but may be influenced by hereditary or genetic conditions or by environmental exposures during pregnancy such as medication taken by the mother, maternal infection, or exposure to radiation. Some cephalic disorders occur when the cranial sutures (the fibrous joints that connect the bones of the skull) join prematurely. Most cephalic disorders are caused by a disturbance that occurs very early in the development of the fetal nervous system.
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How does the human nervous system develop?
The human nervous system develops from a small, specialized plate of
cells on the surface of the embryo. Early in development, this plate of cells forms the neural tube, a narrow sheath that closes between the third and fourth weeks of pregnancy to form the brain and spinal cord of the embryo. Four main processes are responsible for the development of the nervous system: cell proliferation, the process in which nerve cells divide to form new generations of cells; cell migration, the process in which nerve cells move from their place of origin to the place where they will remain for life; cell differentiation, the process during which cells acquire individual characteristics; and cell death, a natural process in which cells die. Damage to the developing nervous system is a major cause of chronic, disabling disorders and, sometimes, death in infants, children, and even adults. The degree to which damage to the developing nervous system harms the mind and body varies enormously.
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What is colpocephaly?
Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.
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Last updated: 11/12/2012
Is colpocephaly rare?
Yes. While we are not aware of incidence estimates for colpocephaly, since the first description in 1940, 50 cases have been reported in the medical literature.
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Last updated: 7/8/2013
What are the symptoms of colpocephaly?
Colpocephaly is characterized by a small head circumference and in many cases,
intellectual disability.
[4] Other signs and symptoms may include movement abnormalities, muscle spasms, and
seizures.
[2] Poor vision, speech and language difficulties, deafness, and
chorioretinitis have been described in individual cases.
[4] Cases of people with colpocephaly and normal neurological and motor development have also been described.
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Last updated: 11/12/2012
What causes colpocephaly?
Researchers believe that the disorder results from some kind of disturbance in the fetal environment that occurs between the second and sixth months of pregnancy.
[2] The underlying causes of colpocephaly are multiple and diverse. Causes include chromosomal anomalies such as
trisomy-8 mosaicism and trisomy-9 mosaicism; intrauterine infection such as toxoplasmosis; perinatal anoxic-ischemic
encephalopathy; and maternal drug ingestion during early pregnancy, such as
corticosteroids, salbutamol, and theophylline. In addition, a
familial occurrence of colpocephaly has been noted in three reports. A genetic origin with an
autosomal recessive or
X-linked recessive inheritance was suggested in these familial cases.
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Last updated: 7/8/2013
How might colpocephaly be treated?
There is no definitive treatment for colpocephaly. Anticonvulsant medications are often prescribed to prevent seizures, and doctors rely on exercise therapies and orthopedic appliances to reduce shrinkage or shortening of muscles.
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What is the typical prognosis for individuals with colpocephaly?
Colpocephaly has been found in association with several other
central nervous system malformations.
[3] The
prognosis for individuals with colpocephaly depends on the severity of the associated conditions and the degree of abnormal brain development.
[2] Associated conditions and malformations include;
agenesis of corpus callosum,
neuronal migration disorders (
lissencephaly, pachygyria),
schizencephaly,
microgyria, macrogyria, enlargement of
cisterna magna,
cerebellar atrophy, optic nerve
hypoplasia, chorioretinal
coloboma,
microcephaly,
meningomyelocele, and
hydrocephalus. Other associated anomalies included
micrognathia,
hypoplastic nails,
simian creases,
Pierre-Robin syndrome, and
neurofibromatosis.
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Last updated: 7/8/2013
What research is being done to help families and individuals with colpocephaly and other cephalic disorders?
Scientists are rapidly learning how harmful insults at various stages of pregnancy can lead to developmental disorders. They are also concentrating their efforts on understanding the complex processes responsible for normal early development of the brain and nervous system and how the disruption of any of these processes results in congenital anomalies such as cephalic disorders. Understanding how
genes control brain cell migration, proliferation, differentiation, and death, and how radiation, drugs,
toxins, infections, and other factors disrupt these processes will aid in preventing many congenital neurological disorders. In addition, researchers are examining the mechanisms involved in neurulation - the process of forming the neural tube. These studies will improve our understanding of this process and give insight into how the process can go awry and cause devastating congenital disorders. Investigators are also analyzing genes and
gene products necessary for human brain development to achieve a better understanding of normal brain development in humans.
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Who can I contact for additional information on colpocephaly?
Last updated: 7/8/2013
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