Colpocephaly in adults

Abstract

Colpocephaly is a congenital abnormality in the ventricular system of the brain. The radiological diagnosis is usually made in the perinatal period and later presages intellectual disability. Adult cases of newly diagnosed colpocephaly have only rarely been reported. We have studied an adult with massive colpocephaly who is an otherwise functional woman. The diagnosis should be considered in patients with ventriculomegaly disproportionately affecting the occipital horns and must be differentiated from the more common form of adult ventriculomegaly-idiopathic normal pressure hydrocephalus (NPH).

Colpocephaly Diagnosed in a Neurologically Normal Adult in the Emergency Department

“…The abnormal ventricular enlargement in colpocephaly is believed to be secondary to the developmental arrest of white matter formation that occurs during fetal development 7. Various etiologies have been proposed, including chromosomal abnormalities, intrauterine infection, perinatal anoxic-ischemic encephalopathy, intrauterine growth retardation, and maternal toxin exposure 1,3…”

“…Discovery in adulthood is remarkably uncommon and has only been reported eight times previously (Table 1). 3–9 Colpocephaly can be identified radiographically by measuring the maximal width of the anterior and occipital horns of the lateral ventricles. An occipital-to-anterior horn ratio of greater than 3 is highly specific for colpocephaly, although it has relatively low sensitivity 3,11…”

“…Diagnosis is typically made in infancy due to associated neurological and neurodevelopmental disorders 1,2. Initial discovery in adulthood is exceedingly rare 3–9. When identified incidentally in adults, colpocephaly may be misdiagnosed as hydrocephalus 4,7,9.…”

Myelomeningocele with Associated Anomalies – Case Report and Literature Review

“…15 Each perinatal influence on this process can preserve this ventricular configuration which is exclusively connected with complete or partial CC agenesis. 16 Generally, colpocephaly is diagnosed in the prenatal period or early childhood. It may be clinically manifested with intellectual decline, seizures and other anomalies such as MM.…”

“…17 Our case confirms that colpocephaly is commonly associated with MM and may remain asymptomatic, a fact also shared by other authors. 16,17 Syringomyelia is a chronic spinal cord defect in which a tubular cavity, or central cavitation, is present in several spinal cord segments and almost 90% of syringomyelias are associated with Chiari malformation (Fig. 1B).…”