Colpocephaly

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A rare brain abnormality


Neural tube defect
EmbryonicBrain.svg
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
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[edit | edit source]

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[edit | edit source]

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

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

Diagnosis[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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

Prognosis[edit | edit source]

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.

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Contributors: Prab R. Tumpati, MD