Spinal deformities

(Congenital)
Dep’t of Neurosurgery
CMC,Ludhiana
Introduction

• Failure of closure of the spine referred to as

spinal dysraphism or spina bifida.
• May be associated defect in the soft tissues,
creating open spina bifida
(myelomeningocele etc.).
• If no or minimal soft tissue defect so that
neural tissue is not exposed-referred to as
occult spinal dysraphism (OSD).
Classification

• Occult or hidden
• Aperta : Visible

According to site
Cervical/Dorsal/Occipital/ Lumbosacral
Anterior or posterior
Embryology
• lower lumbar and sacral region : secondary neurulation at
about 28-30 days of age and may be more common in males.
• upper lumbar region or higher :primary neurulation-formation
of the neural tube at 21days gestational age, and may be more
common in females.
• OSD due to defects in separation of embryonic tissues after 30
days of age.
• May be due to combination of genetic and environmental
factors. Due to use of folic acid in cereal and as peri-
conceptual supplement (0.4 mg/day),
• 2.5% Chance if sibling has the disease.
Pathophysiology
• In the embryo, distal spinal cord undergoes
retrogressive differentiation and filum terminale (glio-
ependymal strand) forms.
• Spinal column (bone) elongates and grows more quickly
than spinal cord, so conus moves up-at term lies at L2-3
vertebral level and by 3 months at L1-2 level.
• If spinal cord tethered at site of dysraphism, can’t move
up and becomes stretched.
• Stretching can increase due to growth until the teens;
later deterioration probably due to excessive stretching/
superimposed degenerative change in spine.
Symptoms and Signs
• Cutaneous stigmata: hypertrichosis, capillary
hemangioma, dermal sinus, subcutaneous lipoma,
caudal appendage.
• Neurological symptoms/signs: back and leg pain,
weakness (UMN or LMN), sensory and/or reflex
change.
• Orthopedic deformities: club foot, small leg,
asymmetric feet/legs, scoliosis.
• Urological problems: frequency/urgency,
neurogenic bladder, incontinence.
cutaneous signs
OSD-Leg changes
OSD-Scoliosis
Diagnosis

• History and Physical.

• Imaging: plain x-rays, CT, MRI.
• Urodynamic testing.
• EMG/nerve conduction studies.
• In Utero testing :USG, Amniocentesis
MRI-tethered spinal cord
MRI-tethered spinal cord cont.
MRI-spinal cyst/spina bifida
MRI-lipomyelomeningocele
MRI-lipomyelomeningocele cont.
Treatment

• Natural history: majority show neurological

deterioration with non-surgical treatment.
(Keating-urinary incontinence in 26% of
infants and 92% of older children with
lipomyelomeningocele; Hoffman-85% of
untreated kids with lipomyelomeningocele
showed decreased neurological function by
age 5 yrs.)
Treatment (cont)
• Treatment of choice=surgical de-tethering.
• In most studies, back and leg pain improved
post-op.(86% improved-Huttmann et al).
• Spasticity better in 71%.
• Bladder dysfunction improved in 44%.
• Sensorimotor deficits better in only 35%.
• Worse outcome if deficits present >5 yrs.
Pre-op.
Complications

• Reported complication rates vary and are

generally about 5 -10%.
• Post-op problems include: loss of
sphincter control/incontinence, increased
weakness or sensory deficits, persistent
pain, infection, spinal instability.
Long Term Outcome

• Literature rates of re-tethering vary from 10-

50%.
• The longer patients are followed, the higher the
rate of re-tethering is likely to be.
• Almost all post-op MRI scans still show radiologic
evidence of tethering!
• Therefore only treat patients if symptomatic.
Meningocele

• 1-2/1000
• 1/3 have neurological deficits
• Surgical repair with water-tight dural
closure
Meningomyelocele

• 1-2/1000 live birth

• Failure of complete
closure of caudal
neural tube
• 85% occur in lumbar
region
Split cord Malformation

• SCM I : Two hemi cords each with dural

sac , bony spur
• SCM II Single sac surrounding two parts
Conclusion

• Developmental anomalies of the spinal

cord and spine are important in practice
• Greater awareness is important as newer
techniques of detethering and closure can
help prevent and reduce neurological
deficits