Spina bifida differential diagnosis

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

Differentiating [Disease name] from other Diseases

• Spina bifida must be differentiated from other diseases that cause vertebral column defects, such as:

• Terminal myelocystocele
• Spine segmental dysgenesis
• Caudal regression syndrome (sacral agenesis)
• Multiple vertebral segmentation disorder
• VACTERL

Differentiating Scoliosis from other Diseases

• Spina bifida must be differentiated from other diseases that causes vertebral column defects, spinal deformity and neurologic abnormalities or gait abnormalities, such as arnold-chiari malformation, syringomyelia, Scoliosis, and leg length discrepancy.

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	Swelling on the back Tuft of hair
Terminal myelocystocele	+/-	Protrusions and dimples	+	None	Tethered spinal cord Tonsillar herniation	MRI	Headache Absent gag reflex
Spine segmental dysgenesis	+	+	+	None	Tethered spinal cord Tonsillar herniation	MRI	Headache Absent gag reflex
Caudal regression syndrome (sacral agenesis)	+	+	+	None	Tethered spinal cord Tonsillar herniation	MRI	Headache Absent gag reflex
VACTERL	+	+	+	None	Tethered spinal cord Tonsillar herniation	MRI	Headache Absent gag reflex
Multiple vertebral segmentation disorder	+	+	+	None	Tethered spinal cord Tonsillar herniation	MRI	Headache Absent gag reflex
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.