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Colpocephaly is a cephalic disorder that refers to the disproportionate enlargement of the occipital horns of the lateral ventricles and is usually diagnosed early after birth due to seizures.

Signs and Symptoms
- abnormally large occipital horns of the lateral ventricles (also frontal and temporal ventricles in some cases)

-partial absence of corpus callosum

-abnormally thick gray matter with thin poorly myelinated white matter.

Colpocephaly consists of a wide range of defects or malformations of the brain. Some of these include mental retardation, motor deficits, visual abnormalities, spasticity and seizures.

-cerebral palsy

-visual defects such as crossing of the eyes eyes, missing visual field,optic nerve hypoplasia

-Prominent occiput and frontal protrusion, dilation of the occipital horns of the lateral ventricles and partial absence of the corpus callosum are some of the key features seen in patients.

- characterized by microcephaly abnormally small head, mental retardation, motor abnormalities, muscle spasms.

History
These brain abnormalities were first described by Benda in 1940 as vesiculocephaly. In 1946, Yakovlev and Wadsworth coined the term colpocephaly from the Greek work kolpos (hollow) and kephalos (head). They stated that “in the apparent dilatation of the occipital horns...it represented a failure of development of the cerebral wall with persistence of the embryonal vesicular character of the brain."

Diagnosis
-difficult to diagnose prenatally

-prenatal ultrasounds may show abnormality in head but has low accuracy

-also in most cases signs of colpocephaly start to appear after birth (seizures)

-MRI scans of head show abnormality

-physicians look for abnormally large occipital horns of the lateral ventricles and diminished thickness of white matter

-spinal tapping not preferred because babies have open fontanelles and colpocephaly isn't associated with increased pressure

- misdiagnosed as hydrocephalus

-accurately diagnosed after birth

Causes
There is no known definitive single mechanism that causes colpocephaly. However, researchers believe there are many possible causes of colpocephaly. It is a common symptom of other neurological disorders in newborns, can be caused as a result of shunt treatment of hydrocephalus, developmental disorders in premature infants, due to intrauterine disturbances during pregnancy, genetic disorders, underdevelopment or lack of white matter in the cerebrum, and exposure of the mother and the developing fetus to medications, infections, radiation, or toxic substances.

Some of the neurological disorders which are associated with colpocephaly are:
 * polymicrogyria
 * Periventricular leukomalacia (PVL)
 * intraventricular hemorrhage
 * Hydrocephalus

Colpocephaly is usually more common in premature infants than in full-term infants, especially in babies born with hypoxia and lung immaturity.

Often colpocephaly occurs as a result of treating hydrocephalus. Hydrocephalus is the accumulation of cerebrospinal fluid (CSF) in the ventricles or in the subarachnoid space over the brain. A shunt is inserted into the ventricles, which drains the excessive fluid into other body cavities to be absorbed by the blood. The increased pressure due to this condition dilates occipital horns causing colpocephaly.

The most generally accepted theory is that of intrauterine disturbances during the second to fifth months of pregnancy. The neurons forming a germinal layer around ventricles migrate to the surface of the brain and form the cerebral cortex and basal ganglia. This process is abnormal or blocked by CSF which causes the enlargement of the occipital horns. Fibers coming from the corpus callosum is absent which leads to the enlarged posterior ventricular system causing colpocephaly.

Some other possible causes of colpocephaly include continuation of oral contraceptives, exposure to alcohol, intrauterine malnutrition, intrauterine infections such as toxoplasmosis, maternal drug ingestion during early pregnancy such as corticosteroids, salbutamol, and theophylline. Researchers believe that these factors can cause destruction of neural elements that have previously been normally formed.

Genetic Factors
Colpocephaly has been associated with chromosomal abnormalities such as trisomy 8 mosaic and trisomy 9 mosaic.

Treatment
There is no known definitive treatment of colpocephaly.

-anticonvulsant medications for seizures -surgeries for stiff joints may improve motor function

-ventriculoperitoneal shunting

-relatively small amounts of research are conducted to improve treatments for hydrocephalus, and to this day there remains no cure for the condition. In developing countries, it is common that this condition go untreated at birth.

-possible treatment in future: stem cell therapy