Spina bifida pathophysiology

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.[2]

Pathophysiology

• Spina bifida is a congenital malformation in which the spinal column is split (bifid) as a result of failed closure of the embryonic neural tube, during the fourth week post-fertilization.
• In normal infants, the neural tube closes by the end of the 4 week of conception, but in patients with spina bifida, some parts of the neural tube fails to develop or close that causes defects in the spinal cord and in the vertebral bones.
• Spina bifida also may be classified according to the tyoe of the vertebrate defect into 2 subtypes:
  • Spina bifida occulta: In this type of spina bifida, the defect of vertebrate is covered by skin ("Occulta" means "hidden"). The spinal cord does not stick out through the skin, although the skin over the lower spine may have a patch of hair, a birthmark, or a dimple above the groove between the buttocks.
  • Spina ifida aperta: In this type of spina bifida , the defect is widely open and is sub classified into 2 types: Meningocele and Myelomeningocele.

Pathogenesis

The flow of CSF has a beneficial effect on venous drainage. In health it moderates central nervous system pressure by moving between the head and spine.

• Spina bifida may be caused by increase of cerebrospinal fluid (CSF) volume in the central nervous system during first weeks of embryogenesis.
• Venous insufficiency is the main cause of the increase of cerebrospinal fluid and it may be caused by any disease that reduces space for venous volume.
• [Pathogen name] is usually transmitted via the [transmission route] route to the human host.
• Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
• [Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
• The progression to [disease name] usually involves the [molecular pathway].
• The pathophysiology of [disease/malignancy] depends on the histological subtype.

Genetics

[Disease name] is transmitted in [mode of genetic transmission] pattern.

OR

Genes involved in the pathogenesis of [disease name] include:

• [Gene1]
• [Gene2]
• [Gene3]

OR

The development of [disease name] is the result of multiple genetic mutations such as:

• [Mutation 1]
• [Mutation 2]
• [Mutation 3]

Associated Conditions

Conditions associated with [disease name] include:

• [Condition 1]
• [Condition 2]
• [Condition 3]

Gross Pathology

On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].

Microscopic Pathology

On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].