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) |
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:
- Anticonvulsant medications for seizure control
- Physical therapy to improve motor skills
- Occupational therapy
- Speech therapy
- Educational support for cognitive and learning difficulties
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.
Related pages[edit | edit source]
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
WikiMD's Wellness Encyclopedia |
Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates, categories Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD