Colpocephaly

A rare brain abnormality

Neural tube defect
Synonyms	N/A
Pronounce
Specialty	Neurology, Pediatrics, Obstetrics
Symptoms	Spina bifida, anencephaly, limb weakness, hydrocephalus, learning difficulties
Complications	Paralysis, hydrocephalus, bowel/bladder dysfunction, death (in severe cases like anencephaly)
Onset	During embryogenesis (3rd–4th week of gestation)
Duration	Lifelong (if compatible with life)
Types	Spina bifida occulta, meningocele, myelomeningocele, anencephaly, encephalocele
Causes	Failure of the neural tube to close completely during early fetal development
Risks	Folate deficiency, maternal diabetes, obesity, some antiseizure medications, genetics
Diagnosis	Prenatal ultrasound, maternal serum alpha-fetoprotein (AFP), amniocentesis
Differential diagnosis	Other congenital malformations affecting the central nervous system
Prevention	Folic acid supplementation before conception and during early pregnancy
Treatment	Surgical repair (e.g., for spina bifida), ventriculoperitoneal shunt for hydrocephalus, supportive therapies
Medication	Folic acid, anticonvulsants (for associated seizures), antibiotics (if infection present)
Prognosis	Varies by type and severity; anencephaly is fatal, while mild spina bifida may have normal lifespan
Frequency	~1 in 1,000 births globally (varies by region and folate intake)
Deaths	High mortality in severe forms (e.g., anencephaly is incompatible with life)

Agenesis of the corpus callosum

Colpocephaly is a rare neurological disorder characterized by an abnormal enlargement of the occipital horns of the lateral ventricles in the brain. This condition is often associated with a reduction in the white matter of the posterior cerebrum, leading to a distinctive appearance on neuroimaging studies.

Pathophysiology

Colpocephaly results from an abnormal development of the cerebral cortex and the ventricular system during fetal development. The condition is thought to arise due to a disturbance in the normal migration of neurons during the second trimester of pregnancy. This disruption can lead to a disproportionate enlargement of the occipital horns of the lateral ventricles, while the frontal horns remain normal or are less affected.

Clinical Features

Individuals with colpocephaly may present with a variety of neurological symptoms, which can vary in severity. Common clinical features include:

• Microcephaly
• Intellectual disability
• Seizures
• Motor skill impairments
• Visual impairment

The severity of symptoms often correlates with the extent of the underlying brain malformation.

Diagnosis

Colpocephaly is typically diagnosed through neuroimaging techniques such as magnetic resonance imaging (MRI) or computed tomography (CT) scans. These imaging modalities reveal the characteristic enlargement of the occipital horns of the lateral ventricles. In some cases, prenatal diagnosis is possible through ultrasound imaging.

Etiology

The exact cause of colpocephaly is not well understood, but it is believed to be related to genetic and environmental factors that affect brain development. Some cases have been associated with chromosomal abnormalities or genetic syndromes.

Management

There is no cure for colpocephaly, and treatment is primarily supportive and symptomatic. Management strategies may include:

• Anticonvulsant medications for seizure control
• Physical therapy to improve motor skills
• Occupational therapy
• Speech therapy
• Educational support for cognitive and learning difficulties

Prognosis

The prognosis for individuals with colpocephaly varies widely depending on the severity of the condition and the presence of associated abnormalities. Some individuals may lead relatively normal lives with mild symptoms, while others may have significant disabilities.

Related pages

• Lissencephaly
• Holoprosencephaly
• Microcephaly
• Ventriculomegaly