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Health Dictionary

Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Spina bifida differential diagnosis

Introduction

Overview

Overview

Spina bifida must be differentiated from other diseases that causes vertebral column defects, spinal deformity and neurologic abnormalities or gait abnormalities, such as: Terminal myelocystocele, spine segmental dysgenesis, Caudal regression syndrome (sacral agenesis), multiple vertebral segmentation disorder, VACTERL association, arnold-chiari malformation, syringomyelia, Scoliosis, and leg length discrepancy.
Differentiating spina bifida from other Diseases

Differentiating spina bifida from other Diseases

Diseases Clinical manifestations Para-clinical findings Gold standard Additional findings
Physical examination
Imaging
Vertebra column defect Protrusions, Dimples, Hair patch in the spine Motor and sensory abnormalities X-ray

(PA and Lateral view)

M.R.I.
Spina bifida ++ ++ +/- Incomplete union of the posterior elements of vertebral levels MRI –
Terminal myelocystocele +/- Protrusions and dimples +/- Incomplete union of the posterior elements of vertebral levels MRI
Spine segmental dysgenesis + – +/- Defects in the segments of the spine and spinal cord
  • Spinal cord at the level of the abnormality is thinned or even indiscernible
  • a bulky, low-lying cord segment may be present caudad to the focal abnormality in most cases
 MRI
  • The spinal column distal to the abnormality may be partially bifid
    Caudal regression syndrome (sacral agenesis) + +/- +/- Agenesis of the sacrum and lumbar spine
    • Lumbosacral vertebral body dysgenesis/hypogenesis
    • The level of atresia/dysgenesis is usually below L1 and often limited to sacrum
    		 MRI Associated with other developmental malformations (orthopedic, neurological, genito-urinary, gastrointestinal…)
      VACTERL association + +/- +/- Vertebral body dysgenesis/hypogenesis – MRI, Ct scan, X ray VACTERL stands for:
      • Vertebral defects
      • Anal atresia
      • Cardiac defects
      • Tracheo-Esophageal fistula
      • Renal anomalies
      • Limb abnormalities
        Arnold-chiari malformation + + + None MRI
        Syringomyelia + + + MRI
        • Impaired ambulation and loss of penile erection when syrinx involves lumbosacral area
        Scoliosis +/- +/- +/-
        • Abnormality that may be causing the deformity
        • Spinal cord abnormalities may be seen
        		 MRI
        Leg length discrepancy – – – None Orthoroentogram
        • Repeat standing x-rays with the patient standing on a block to account for the discrepancy demonstrates correction of the postural abnormality.
        References

        References

        1. ↑ Calloni SF, Huisman TA, Poretti A, Soares BP (2017). “Back pain and scoliosis in children: When to image, what to consider”. Neuroradiol J. 30 (5): 393–404. doi:10.1177/1971400917697503. PMC 5602330. PMID 28786774.
        2. ↑ Azar, F., Canale, S., Beaty, J. & Campbell, W. (2017). Campbell’s operative orthopaedics. Philadelphia, PA: Elsevier. Page: 1898-2028.
        3. ↑ Meyer SH, Morris GF, Pretorius DH, James HE (March 1998). “Terminal myelocystocele: important differential diagnosis in the prenatal assessment of spina bifida”. J Ultrasound Med. 17 (3): 193–7. PMID 9514174.
        4. ↑ Scott RM, Wolpert SM, Bartoshesky LE, Zimbler S, Karlin L (April 1988). “Segmental spinal dysgenesis”. Neurosurgery. 22 (4): 739–44. PMID 3374785.
        5. ↑ Kremser E, Mitchell GM (February 1971). “Treatment of primary dysmenorrhea with a combined type oral contraceptive–a double blind study”. J Am Coll Health Assoc. 19 (3): 195–6. PMID 4925436.
        6. ↑ Benedetti-Valentino F J, De Feo V, Pistolese GR, Fiorani P (September 1966). “[Nephroptosis and fibromuscular hyperplasia of the tunica media of the renal arteries]”. Minerva Cardioangiol (in Italian). 14 (9): 528–34. PMID 5991006. Vancouver style error: name (help)
        7. ↑ Naccarato R, Sturniolo GC, Martin A, D’Odorico A, Montino C (March 1988). “[Irritable bowel syndrome]”. G Clin Med (in Italian). 69 (3): 163–8. PMID 3169446.

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