Spina bifida

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Spina bifida

Paediatrics Sara

Paediatrics Sara

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Flashcards

Spina bifida

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Questions

USMLE® Step 1 style questions USMLE

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Start
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?  

Transcript

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With spina bifida, “spina” refers to the spine, while bifida means “split”. So, spina bifida literally means “split spine”. It occurs during embryonal development when the posterior part of the spine doesn’t fully close, leaving behind various degrees of defects, usually in the lumbosacral region of the spine.

To understand spina bifida, we need to zoom in on the embryo during its earliest weeks of development. At this stage, the embryo has three main layers. The ectoderm on the outside, the mesoderm in the middle, and the endoderm on the inside. Around the third week of development, the ectoderm forms a flat sheet of cells known as the neural plate. Soon after, the plate begins to fold inward along the midline, creating a neural groove with raised folds on each side. By the fourth week, these folds move closer and fuse, forming the neural tube. The top part of this tube, called the cranial end, will become the brain, while the bottom part, known as the caudal end, will develop into the spinal cord.

Also, the ectoderm will give rise to three protective layers called the meninges, which wrap around the brain and spinal cord, cushioning them with cerebrospinal fluid. But that’s not all. Thanks to the mesoderm, the body organizes to form structures like muscles, bones, and the overall skeletal framework. This adds another layer of protection because the mesoderm forms the vertebral column that surrounds and protects the spinal cord.

The vertebral column is divided into five regions, each with its own set of vertebrae. The cervical region has 7 vertebrae, labeled C1 to C7; the thoracic region has 12, named T1 to T12; and the lumbar region includes 5, from L1 to L5. Below these, the sacral region consists of 5 fused vertebrae, S1 to S5, and the coccygeal region has 4 fused vertebrae, Co1 to Co4. Now, each vertebra has two main parts. The vertebral body at the front and the vertebral arch at the back. Together, they form a central opening called the vertebral foramen. When the vertebrae stack up, these openings align to create the vertebral canal, which houses the spinal cord.

Now, spina bifida occurs when the caudal end of the neural tube fails to close properly during embryonic development. As a result, the mesoderm above the affected region fails to organize, which results in a defect or absence of the vertebral arches, usually around the L5 to S1 vertebrae.

Depending on the severity of the defect, spina bifida can range from a small, harmless gap in the bone to a complete protrusion of the meninges and the spinal cord through the spine. The exact reason why spina bifida occurs remains a mystery, but several factors can increase the risk. The most important one is not getting enough folic acid during the first trimester of pregnancy because folic acid helps the neural tube close properly. Next, taking certain anti-seizure medications during pregnancy, such as valproic acid, can block folic acid from doing its job, increasing the chance of neural tube defects. Other factors include obesity, consuming alcohol during pregnancy, and poorly controlled diabetes.

Now, depending on the size of the vertebral defect, spina bifida can be classified into several types. First, there’s spina bifida occulta, which is the most common and mildest type. The word occulta means “hidden” because this type often goes unnoticed during prenatal ultrasounds and usually doesn’t cause any symptoms. That’s because, even though one or more vertebrae don’t fully close, the opening is so small that neither the meninges nor the spinal cord can bulge through. Still, subtle signs to keep in mind include a small tuft of hair or a dark patch of skin over the lower back.

Next up is meningocele, which breaks down into “meningo” referring to the meninges, and the suffix “cele” meaning hernia or simply, protrusion. So, in this type, the meninges slip through a gap in the vertebrae and form a visible sac on the lower back, filled with cerebrospinal fluid. Since the spinal cord itself stays in place within the spinal canal, the risk of neurologic complications is usually low.

Key Takeaways

Spina bifida is a congenital birth defect of embryonic development 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. In Spina bifida occulta there is only a small gap in the bones of the spine, and the spinal cord and surrounding tissue don't protrude. In meningocele, the meninges protrude through the opening in the spinal column, but the spinal cord itself is not affected. In myelomeningocele, there is a protrusion of the spinal cord and nerves through the opening of the spinal cord. For treatment, prenatal surgery is done to close myelomeningocele, but this surgery can be dangerous to the developing fetus as well as the mother. In cases where postnatal surgery is chosen, it is often done within the first few days of an infant's life to minimize the risk of infection like meningitis.

Sources

  1. "Robbins & Kumar Basic Pathology. Available from: ClinicalKey Student (11th Edition). Page 730-732. " Elsevier Limited (UK) (2022)
  2. "Crush Step 1 E-Book. Available from: ClinicalKey Student, (3rd Edition). Page 92-93. " Elsevier Limited (UK) (2023)
  3. "Concise Clinical Embryology: an Integrated, Case-Based Approach. Available from: ClinicalKey Student, Page 25-26. " Elsevier Health Sciences (US),
  4. "Ferri's Clinical Advisor 2025. Available from: ClinicalKey Student, Page 1007-1009. " Elsevier Limited (UK) (2024)
  5. "Cecil Essentials of Medicine. Available from: ClinicalKey Student (10th Edition). Page 1048-1049. " Elsevier Limited (UK) (2021)
  6. "“Spina Bifida: A Review of the Genetics, Pathophysiology and Emerging Cellular Therapies.” " Journal of developmental biology vol. 10,2 22 (6 Jun. 2022)