Learn all about colpocephaly symptoms, causes, treatment and prognosis. The Colpocephaly is a congenital brain anomaly that affects the structure of the ventricular system. At the anatomical level, the brain presents a significant dilation of the occipital horns of the lateral ventricles.
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.
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. Colpocephaly is a congenital brain abnormality. Occipital horns the posterior or rear portions of the lateral ventricles are larger than normal. Anticonvulsant medications are often prescribed to prevent seizures.
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. This defect is thought to occur between the first and second trimesters of pregnancy due to changes in the fetal environment.
Colpocephaly may be a result of genetic or metabolic disorders. Use of alcohol or prohibited drugs and maternal diabetes may also be the cause, as per available data. This defect occurs because the white matter located in the rear portion of the cerebrum does not develop as part of regular fetal development. 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.
The symptoms experienced could vary in intensity for person to person from being mild to severe. Some patients do not show most of the symptoms related to colpocephaly such as, psychomotor abnormalities and agenesis of the corpus callosum. The cause of anencephaly remains unknown. A developmental failure occurs between the 23rd and 26th days of pregnancy. The cephalic (or head) end of the neural tube fails to close, and major portions of the brain, skull, and scalp do not develop. Recent studies suggest the addition of folic acid to the diet of women in their child-bearing years may reduce the incidence of neural tube defects, suggesting that factors associated with diet and vitamins may play a role. The following list includes common symptoms of colpocephaly.
- partial or complete agenesis of the corpus callosum
- intellectual disability
- motor abnormalities
- visual defects such as, crossing of the eyes, missing visual fields, and optic nerve hypoplasia
- cerebral palsy
Intracranial abnormalities include:
- Agenesis of the corpus callosum
- Periventricular leukomalacia (PVL)
- Enlargement of the cisterna magna
- Cerebellar hypoplasia.
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. Besides these there are several central nervous system disorders associated with colpocephaly like:
- Periventricular leukomalacia (PVL)
- Intraventricular hemorrhage
- Pierre-Robin sequence
Colpocephaly treatment is not definitive. Anticonvulsant medications are often prescribed to prevent seizures, and doctors rely on exercise therapies and orthopedic appliances to reduce shrinkage or shortening of muscles. There is no standard line of treatment and the treatment is directed towards helping the affected lead as normal a life as possible. Special education may help children with developmental disabilities. Epileptic seizures affect many children affected by colpocephaly to which anti convulsing medicines bring some relief. Physical therapy is used to help in facilitating movements. Orthopaedic braces and physical therapy help children to cope with the muscle seizures and develop some degree of muscle control and provide cosmetic changes in appearance to some extent. In a few cases, surgery can help treating certain types of cephalic disorders. Colpocephaly is a very rare syndrome and less than 50 cases have been recorded. As the syndrome causes irreversible intellectual retardation, medical research is more focussed on finding the cause of this disorder and preventing it.
Colpocephaly prognosis for individuals depends on the severity of the associated symptoms. Colpocephaly has been found in association with several other central nervous system malformations. The prognosis for individuals with colpocephaly depends on the severity of the associated conditions and the degree of abnormal brain development. 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.conditions and the degree of abnormal brain development. Some children benefit from special education.