Spina bifida differential diagnosis

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

## Overview

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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

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* 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.[1][2][3][4][5][6][7]

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  |

* Various degrees of failure of neural tube closure
* Posterior sac contains meninges and/or spinal cord

| MRI | \-
Terminal myelocystocele  | +/-  | Protrusions and dimples  | +/-  | Incomplete union of the posterior elements of vertebral levels  |

* Various degrees of failure of neural tube closure
* Posterior sac contains meninges and/or spinal cord

| MRI |

* Progression of lower extremity paralysis
* Common in patients with cloacal exstrophy

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  |

* Tethered spinal cord
* Tonsillar herniation

| MRI |

* Headache
* Absent gag reflex

Syringomyelia | \+  | \+  | \+  |

* Rib or vertebral abnormalities may be seen

* Abnormality that may be causing the deformity
* Enlargement of the central canal of the spinal cord

| MRI |

* Impaired ambulation and loss of penile erection when syrinx involves lumbosacral area

Scoliosis | +/-  | +/-  | +/-  |

* Rib or vertebral abnormalities usually seen

* Abnormality that may be causing the deformity
* Spinal cord abnormalities may be seen

| MRI |

* EMG and nerve conduction testing: evidence of upper motor neuron lesions.

Leg length discrepancy | \-  | \-  | \-  |

* Quantify the degree of 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

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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.CS1 maint: Multiple names: authors list (link)
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)CS1 maint: Unrecognized language (link)
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.CS1 maint: Unrecognized language (link)

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