Disease Description (Causes and Symptoms)

Definition: Spina bifida occulta is a congenital malformation involving a defect in the bone because part of the vertebrae (lamina) does not completely close; unlike other forms, a sac does not protrude through the skin. Because the nervous system is normal in most cases, it is often asymptomatic.
Causes·Pathophysiology: It occurs when the neural tube does not close normally during fetal development, causing part of the lamina to remain open. Although there is usually no major abnormality in the spinal cord itself, spinal dysraphism such as lipomyelomeningocele, lumbosacral lipoma, or tethered cord may be present.
Main symptoms: Usually asymptomatic. However, when spinal dysraphism or tethered cord is present, leg weakness·decreased sensation, foot deformities, leg pain, bladder·bowel dysfunction, scoliosis, and other symptoms may occur.
Skin findings (warning signs): If a small depression (dimple), subcutaneous lipoma, hair tuft (hypertrichosis), vascular birthmark (nevus), or cutaneous fistula is seen in the lumbosacral region, it is necessary to check for spinal cord abnormalities.
Diagnostic summary: Often discovered incidentally on lumbar spine X-rays. In infants, screening with ultrasound is possible. MRI is used for confirmation and detailed evaluation.

Treatment Methods and Precautions

Asymptomatic patients: No specific treatment is needed, and there are generally few restrictions on daily activities. Regular examinations or treatment are not necessarily required.
When symptoms are present or spinal dysraphism such as tethered cord is confirmed: Surgical treatment (surgical untethering·release to relieve the tethering) may be necessary. Follow-up is needed after surgery to check for retethering and other issues.
Medication·conservative treatment: Pain management (analgesics), medications for neuropathic pain, and urological·rehabilitative management for urinary and bowel dysfunction (bladder training, catheters, etc.) may be used as supportive treatments.
Lifestyle management·precautions:
- Seek medical attention immediately if new leg weakness, decreased sensation, bladder·bowel abnormalities, foot deformity, or progressive back pain develops.
- If there are skin abnormalities in the lumbosacral region (dimple·lipoma·hair tuft, etc.), consultation with a pediatrician·neurosurgeon or imaging is recommended.
- If surgery has been performed, wound care and monitoring for retethering are necessary.
Risk of complications: Permanent neurological deficits due to tethered cord (muscle weakness·sensory impairment·bladder dysfunction), foot deformities, and spinal deformities (scoliosis), among others.

Items and records to bring
- List of currently prescribed medications (including dosage·time of administration)
- Past medical history and surgical history
- Results of previous imaging tests (original films or CD of lumbar X-rays, ultrasound, or MRI, if available)
- Record of symptom changes (when they began, aggravating factors, degree of pain)
- Records of bladder·bowel patterns (difficulty passing urine, urinary incontinence, bowel movement frequency, etc.)
- Family history (neurological malformations, congenital malformations, etc.)
- For children, birth history (whether premature, whether the mother took folic acid, etc.)
Information to show the doctor during the outpatient visit
- Photos of skin findings in the lumbosacral region (if available)
- Recent changes in physical function (gradual progression·acute changes)
Simple examples of questions to ask the doctor during the outpatient visit
- "If there are currently no symptoms, are additional tests or treatment needed?"
- "There is a skin abnormality in the lumbosacral region. Is an MRI definitely necessary?"
- "If surgery is recommended, what are the expected benefits and risks?"

"Why is additional imaging (MRI, etc.) needed for my condition (or my child's condition)?"
"If there are currently no symptoms, how often is it appropriate to have follow-up examinations?"
"If surgery is recommended, what complications can be expected and what will the recovery process be like?"
"Are there any activities or exercises I should avoid in daily life, or any exercise restrictions?"

"There is a small depression and a fine hair tuft on the skin of the lower back. Is this alone enough to suspect a spinal cord abnormality? When would you recommend an MRI?"
"A bladder abnormality is suspected in my child. What is its association with spina bifida occulta, and what tests are needed immediately?"