Colpocephaly is a congenital brain abnormality in which the occipital horns the posterior or rear portion of the lateral ventricles of the brain are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.
Colpocephaly is characterized by a small head circumference and intellectual disability. Some of the common signs and symptoms include movement abnormalities, muscle spasms, and seizures, while poor vision, speech and language difficulties, deafness, and chorioretinitis may occur in some individual cases. Cases of people with colpocephaly and normal neurological and motor development have also been described.
According to some researchers it is believed that some kind of disturbance in the fetal environment that occurs between the second and sixth months of pregnancy causes this disorder. However, 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.
Although there is no definitive treatment for colpocephaly, some anticonvulsant medications are often prescribed to prevent seizures. Doctors rely on exercise therapies and orthopedic appliances to reduce shrinkage or shortening of muscles.
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