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Spina bifida

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Spina bifida

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Spina bifida

14 flashcards
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USMLE® Step 1 style questions USMLE

3 questions
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A 1-hour-old boy is being evaluated in the nursery due to a hairy patch on the lower back. He was born to a 24-year-old primigravida who did not receive prenatal care. The patient’s mother took prenatal vitamins throughout the pregnancy and did not use tobacco, alcohol, or illicit drugs. The patient’s vitals are within normal limits. Physical examination shows a comfortable infant moving all 4 limbs spontaneously. Rectal examination reveals normal anal sphincter tone. Examination of the lower back shows a small, flat, hairy patch. Palpation of the area reveals a gap. Which of the following is the most likely diagnosis?  

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Transcript

Content Reviewers:

Rishi Desai, MD, MPH

Contributors:

Tanner Marshall, MS

The term “spina bifida” comes from the latin “split spine,” which is actually a pretty good description, because spina bifida is a birth defect where the tissue on the left and right side of the back that normally come over the spinal cord to protect it, don’t completely meet up to form a nice seal, leaving behind various degrees of an opening right down the middle of the lower back.

Very early on in fetal development, the ectoderm, which is the outer layer of the fertilized egg, starts to develop a bit of a ridge that eventually becomes the neural tube.

This neural tube goes on to become the spinal cord, the brain, as well as tissues that enclose and protect them, called the meninges, and spina bifida occurs when a portion of this neural tube fails to close properly, typically in the lower back.

This constitutes a defect or absence of the vertebral arches due to failure of mesoderm to organize over the region of the defect, and it may or may not involve the underlying meninges and neural tissue

Alright so there are three main types of spina bifida, the first is myelomeningocele, also called meningomyelocele, and this is the most severe of the three and occurs when the spinal cord and the surrounding meninges protrude out of an opening in the bony vertebrae and are held together by a sack of skin that pouches out from the back.

In really severe cases, there is no skin at all, and the nerves of the spinal cord are therefore exposed, a condition called ‘open spina bifida, and this can cause serious damage to the exposed nerves as well as risk an infection, resulting in symptoms like loss of sensation or paralysis in the areas of the body below the damaged site, bladder or bowel movement problems, seizures, as well as leg and foot deformities.

Now a myelomeningocele is typically associated with a condition called an Arnold Chiari II malformation, which is where cerebellar and brainstem tissue slip down into the foramen magnum—the opening at the base of the skull.

This Arnold Chiari II malformation results in a variety of symptoms related to the cerebellum and often resulting in hydrocephalus—an abnormal accumulation of cerebrospinal fluid in the brain.

Alright the second type of spina bifida is meningocele, sometimes called a meningeal cyst.

In this condition, the prenatal spinal deformities result in only the meninges (and not the spinal nerves) slipping into the gaps between the deformed vertebrae.

This one’s the least common form of spina bifida, and because the spinal cord itself is not damaged, these individuals often do not experience the severe symptoms that are seen in myelomeningocele.

Alright the third type and final type is spina bifida occulta, and this is the most common and most mild form of spina bifida.

In fact, ‘occulta’ is latin for hidden, which is appropriate since many of the normal prenatal tests used to diagnose spina bifida don’t catch the disorder because the deformities in the tissues of the lower back are tiny.

In spina bifida occulta, the spinal cord and surrounding tissue don’t protrude, nor is any of the tissue forced into the spaces in between the vertebrae.

Summary
Spina bifida is a congenital defect where there is incomplete closing of the vertebral column and membranes around the spinal cord. There are three main types: spina bifida occulta, meningocele, and myelomeningocele. The most common location is the lumbar spine, but in rare cases it may be the cervical or thoracic spine. Spina bifida occulta is the most mild (presents in the lumbar spine with a patch of hair over the defect) and myelomeningocele, also known as open spina bifida, is the most severe form. Associated problems include poor ability to walk, problems with bladder or bowel control, hydrocephalus, a tethered spinal cord, and latex allergy.