Acrania

A rare congenital disorder characterized by the absence of the cranial vault

Acrania is a rare congenital disorder characterized by the partial or complete absence of the cranial vault, the protective bony structure that encases the brain. This condition is often associated with other neural tube defects, such as anencephaly.

Pathophysiology

Acrania occurs due to a failure in the closure of the neural tube during embryonic development. The neural tube is the precursor to the central nervous system, which includes the brain and spinal cord. In acrania, the mesenchyme that forms the skull does not develop properly, leading to the absence of the cranial bones.

Clinical Presentation

Infants with acrania are typically born with a malformed head due to the absence of the cranial bones. The brain is exposed or covered only by a thin membrane. This condition is often detected during prenatal ultrasound examinations.

Diagnosis

Acrania can be diagnosed prenatally through ultrasound imaging, which can reveal the absence of the cranial vault. Magnetic resonance imaging (MRI) may also be used to assess the extent of the defect and any associated anomalies.

Prognosis

The prognosis for infants with acrania is extremely poor. The condition is often incompatible with life due to the severe exposure and damage to the brain. Most affected pregnancies result in stillbirth or early neonatal death.

Management

There is no cure for acrania. Management is supportive and focuses on providing comfort care. In some cases, parents may choose to terminate the pregnancy upon diagnosis due to the poor prognosis.

Related Conditions

Acrania is often associated with other neural tube defects, such as:

• Anencephaly
• Spina bifida
• Encephalocele

Related pages

• Neural tube defect
• Cranial vault
• Embryonic development
• Congenital disorder

Gallery

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  Acrania
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  Anencephaly

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  Acrania
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  Anencefalia