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Spina bifida differential diagnosis

From Wikidoc - Reading time: 3 min

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

Overview[edit | edit source]

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[edit | edit source]

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[edit | edit source]

  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.

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