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

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

• 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.

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.