Odd Peak

Is colpocephaly serious?

            Every loving parent would always strive and work hard in providing the best for their child. When the child is in the best condition of both physical and mental health, the child will have the best time to enjoy their childhood and hopefully for a bright future. However, not all children are lucky enough to be born or live normally as others. In this DoctorOnCall’s article, we will be learning about one of the many conditions affecting a child’s life known as colpocephaly.

            Colpocephaly is defined as a congenital brain abnormality characterised by the occipital horns (posterior portion of the lateral ventricles of the brain) larger than normal. This is often resulted from the failed development or thickening of white matter in the posterior cerebrum. In other word, colpocephaly is a descriptive term for a disproportion of the occipital horns of the lateral ventricles.

            The exact cause is not exactly known but there are factors deemed to be responsible for colpocephaly. This includes chromosomal abnormalities, exposure of mother to some toxins and infection during pregnancy. Researchers believe that factors causing disturbance to the fetal environment occur between the 2nd and 6th months of pregnancy.

            Colpocephaly is often confused with hydrocephalus as babies both are presented with an abnormal head size. However, there are big differences between colpocephaly and hydrocephalus. While colpocephaly refers to the selective dilatation of the occipital horns with normal or small front horns while hydrocephalus refers to the excessive accumulation of cerebrospinal fluid in the brain. Knowing the differences is important as it provides clues on treatment and its outcome. Hydrocephalus usually requires shunting and affects all the ventricular systems. Hydrocephalus is also often progressive and obstructive. This is in contrast with colpocephaly as it is occipital elective, non progressive and non obstructive that do not require surgery except when colpocephaly exists together with obstructive hydrocephalus.

            Colpocephaly is characterised by the abnormal small head (microcephaly) and delayed neuropsychomotor development (a term used to describe delays in skill development in young children). Other features include movement abnormalities, muscle spasms and seizures. Patients may also have visual disturbance. Most cases of colpocephaly are discovered in infancy. However, in extremely rare cases, adult may have colpocephaly but often so without any symptoms and discovered accidentally during medical examination for other health problems.

            Colpocephaly may be diagnosed late in pregnancy but often misdiagnosed as hydrocephalus. It is usually accurately diagnosed after birth when the child shows signs of impaired intellect, microcephaly and seizures. Healthcare providers typically diagnose colpocephaly during pregnancy during prenatal ultrasound. When there are signs of colpocephaly after the child is born, doctors may recommend other imaging tests such as CT and MRI scans for further testing. Genetic testing may be done to help identify genes that are responsible for the condition and to help diagnose other associated conditions affecting the child. This will help to prepare both parents and child for the future and what to expect.

            There is no definitive treatment for colpocephaly. This is because there is no cure for the condition. What doctors can provide is medication and therapy to help improve a patient’s life. This includes anticonvulsant medications to prevent seizures and therapies with orthopaedic assistance to cope with muscle issues such as shrinkage or shorten muscles. Since patients may have problems with intellectual development, providing special school or special education to support patients with learning processes can be a great help. 

            Due to the fact that colpocephaly can cause many symptoms, parents might wonder if the condition itself is serious. While colpocephaly is indeed a serious condition, it is typically not fatal. Even so, patients with significant malformation and/or with other brain disorders may have to live with long-term disabilities or complications. The good news is, many assistance and support is available to help patients live with this condition. Parents might want to consider enrolling their child in a clinical trial so that more research can be done to help colpocephaly be understood and provide better treatment.

            It can be concluded that colpocephaly is a rare disorder that is usually diagnosed within the early years of life. It is characterised by the apparent dilatation of the occipital horns due to the failure of the cerebral wall development. The outcome for individuals with colpocephaly depends on the severity of the associated conditions and the degree of the abnormal brain development. The wide range of neurodevelopmental outcomes in babies with colpocephaly is due to the uncertainty of the exact causes underlying the process of colpocephaly. While there is no cure, treatment available can help improve patients’ lives by ensuring they can move their muscles and be able to learn through special education. This can help patients to be independent in future. Diagnosing the condition during pregnancy through genetic testing can help obtain information relating to other possible abnormal health conditions. In the absence of macrocephaly, mothers can expect to have vaginal delivery.

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