congenital spinal deformity spinal deformity - harminder... · •minimal failure of one vertebra...
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Congenital Spinal Deformity
Harminder S Gosal
Embryology
• Developmental defect in formation of
mesenchymal structures during 4th to 6th
weeks of gestation
Epidemiology
• Incidence - 1:1000 for congenital vertebral
anomalies- Wynne-Davies 1975
• Solitary anomaly - non-familial
• Multiple anomalies - famial, related to
anencephaly & spina bifida cystica, 5-10%
risk to siblings
• ? Incidence of congenital spinal deformity
• 13/1250- affected relatives - Winter 1983
Classification
• Type
• Location
• Direction
• Extent
• Magnitude of deformity
• Anatomic malformation
Classification by Type
• Scoliosis
• Kyphosis
• Lordosis
Scoliosis
• Lateral deviation of the spine
• Structural - lateral curve with rotation
• Non-structural - 2º to other factors, e.g. Leg
length inequality
Kyphosis
• Posterior angulation of the spine
• Normal [thoracic spine]
• Abnormal kyphosis = kyphos
• Kyphos - rounded or angular
• Angular kyphos = gibbus
• Kyphosis in cervical, thoracolumbar, or
lumbar spine is always abnormal
Kyphosis
• Normal range - 15º to 49º in midthoracic
region
• Thoracic hypokyphosis - 1º to 14º in
midthoracic region
• Hyperkyphosis - thoracic kyphosis >50º
Winter 1983
Lordosis
• Anteriorly directed curve in cervical and
lumbar spine
• ? Normal range
• Winter - abnormal if 60º or more
Classification by Location
• Location of a curve identified by its apex
regardless of where the ends of the curve lie
Curve Location
• Occipitocervical-Apex at C1 or the occiput & C1
junction
• Cervical- Apex from C2 to C6
• Cervicothoracic- Apex at C7, T1, or C7-T1
interspace
• Thoracic- Apex between T2 & T11
• Thoracolumbar- Apex at T12, L1, or T12-L1
interspace
• Lumbar- Apex between L2 & L4
• Lumbosacral- Apex at L5, S1, or L5-S1 interspace
Classification by Direction
• All scolioses are classified as to whether the
apex is directed to the right of left
Classification by Extent
• All curvatures are classified by the end
vertebrae e.g. T5 to T12
Classification by Magnitude
• Cobb-Lippman angle
Classification by Anatomic
Malformation
• 3 types
• Defects of segmentation
• Defects of formation
• Mixed
Defects of Segmentation
• Anterior
• Posterior
• Lateral
• Posterolateral
• Anterolateral
• Total
Anterior Failure of Segmentation
• Anterior unsegmented
bar
• Leads to kyphosis
Posterior Failure of Segmentation
• Usually involves both
laminae & facet joints
• ‘Laminar Synostosis’
• Lordosis
Lateral Failure of Segmentation
• Unilateral Unsegmented
Bar
• Produces a Scoliosis
which may be severe
Posterolateral Failure of
Segmentation
• In facet joints and adjacent laminae
• Continued growth anteriorly and on
opposite side
• Lordoscoliosis
Anterolateral Failure of
Segmentation
• Very rare
• Kyphoscoliosis
Total Failure of Segmentation
• ‘Block Vertebra’
• Shortened Spine
Defects of Formation
• Anterior
• Posterior
• Lateral
• Anterolateral
• Anterior central
Anterior Failure of Formation
• Minimal failure of one
vertebra to absence of
several adjacent
vertebrae
• Kyphosis produced
tends to be angular
Posterior Failure of Formation
• Extremely rare
• Results in Lordosis
Lateral Failure of Formation
• Hemivertebra
• Common
• Mild Wedging
• Total Absence except
a pedicle & a facet
joint
• Multiple,adjacent or
scattered
Incarcerated Hemivertebra
• Vertebrae above &
below compensate
• No spinal distortion
• Pedicle line intact
Nonincarcerated Hemivertebra
• Pedicle line disturbed
• Distorted vertebral
column
Segmented Hemivertebra
• Normal disc space
above & below
Unsegmented Hemivertebra
• Defect of segmentation
both above & below
Anterolateral Defect of
Formation
• ‘Corner’ vertebra
• Angular Kyphoscoliosis
Anterior Central Defect of
Formation
• Midline defect of
fusion
• ‘Butterfly’ vertebra
• Associated with
Kyphosis
Mixed Failures
• Defects of segmentation + formation
• Unilateral unsegmented bar with
hemivertebrae
• Nonsegmented Hemivertebrae
Unilateral Unsegmented Bar with
Hemivertebrae
• Rapidly progressive
deformity
Nonsegmented Hemivertebrae
• Little/slow
progression of
deformity
Patient Evaluation-History
• Appearance of curve/progression/symptoms
• Family history/pregnancy/diabetes
• Other systems/GU/CVS/GIT/CNS
• Growth/Gait
Patient Evaluation-Examination
• Asymmetry- head tilt/ shoulders/ribs/pelvic
obliquity
• Pattern of deformity
• Stiffness
• Respiratory/Cardiac-Murmurs
• Development
• Neurological
Patient Evaluation-Radiology
• AP/lateral/Oblique-Standing/Sitting
• Standing films in new walkers may be
misleading
• Serial for comparison
• CT/MRI-Spinal Dysraphism[40%]
• IVP/Renal US - 20-30% GU anomalies
• Cobb-Lippman angle
Natural History of Congenital
Spinal Deformity
• 25% Nonprogressive
• 25% Mild progression
• 50% Significant progression
• Depends on defect
Natural History of Congenital
Spinal Deformity
• Females do worse
• Most curve progression in adolescence
• Kyphosis[paraparesis]>Lordosis>Scoliosis
• Thoracic Scoliosis more severe progression
• ‘Free’ hemivertebrae>semisegmented
• Unilateral unsegmented bars always
progress
Natural History-Defects of
Segmentation
• Unilateral unsegmented bar - ‘malignantly’
progressive - 50º at birth & 100º at 10yrs,
die of cor pulmonale at 25-30yrs
• Longer bar- worse prognosis
• Most common in thoracic spine
Natural History-Defects of
Formation
• Nonincarcerated
hemivertebra- worst
growth potential
Management of Congenital
Spinal Deformity
• Evaluate patient
• Monitor for progress of deformity
• Prompt action when progress observed
• Nonoperative - Bracing
• Operative - Spinal fusion
Treatment Goal
• Stop progression of the congenital spinal
deformity
• Before corrective surgery is needed
Nonoperative Treatment
• Exercise/physiotherapy - No effect on curvature
• Serial casts for a small child
• Brace - Milwaukee - Limited but definite role
• In longer, more flexible primary & secondary
curves
• Short rigid curves do not respond to bracing
Bracing in Congenital Spinal
Deformity
• Congenital Kyphosis & Lordosis do not
respond
• Congenital Scoliosis - May benefit long
flexible curves
• Discontinue if not controlling progression
of curve
Operative Treatment
• Spinal fusion is the mainstay of treatment
• Four main operative procedures :
1. Posterior fusion
2. Combined anterior and posterior fusion
3. Epiphysiodesis [convex growth arrest]
4. Hemivertebra excision
Congenital Spinal Deformity
• Scoliosis
• Kyphosis
• Lordosis
• [Lordoscoliosis, Kyphoscoliosis]
• Spinal Dysraphism
• Cervical spine deformity
• Associated Anomalies & Syndromes
Congenital Scoliosis
• Defect of Segmentation
• Defect of Formation
• Combined defects commonest
• Any area of spine
• Most common congenital spinal deformity
Congenital Scoliosis-Natural
History
• 25% Nonprogressive
• 25% Slowly progressive
• 50% Very progressive
• Type of anomaly
• Rate of growth of patient
Congenital Scoliosis - Treatment
• Brace - Long, flexible curves
• Posterior fusion for most progressive curves
• In girls<10yrs, boys<12yrs, ‘crankshaft’
phenomenon may occur because of
continued anterior spinal growth
• In these cases ant/post fusion may be
required
Unilateral Unsegmented Bar with
a Contralateral Hemivertebra
• Most progressive
[rapid & relentless]
scoliosis
• 10º to 20º per year
• Posterior fusion [add
anterior fusion for
girls<10, boys<12]
Unilateral Unsegmented Bar
• 2nd most progressive
[rapid] scoliosis
• Posterior fusion [add
anterior fusion for
girls<10, boys<12]
Fully Segmented Hemivertebra
• Steadily progressive
scoliosis
• Anterior fusion
• Ant/post convex
hemiepiphysiodesis
[age<5, curve<70, no
kyphosis]
• Hemivertebra excision
Semisegmented Hemivertebra
• Less rapid progression
of scoliosis
• Curve usually<40° at
maturity
• Observe
• Hemivertebra excision
Incarcerated hemivertebra
• May progress slowly
• Observe
Nonsegmented Hemivertebra
• Little progression of
scoliosis
• Observe
Congenital Kyphosis
• More common than lordosis, but less than
congenital scoliosis
• Defects of formation [Type1] most common
& worst prognosis
• Defects of segmentation [Type2] -
midthoracic or thoracolumbar regions
• Treatment is surgical
Type 1 - Congenital Kyphosis
• 1 or multiple level formation
defects
• 95% progress
• Paraplegia - Growth spurt
• Posterior fusion [<5yrs,<50°]
• Ant/Post fusion [older child,
more severe curve]-2 stage
Type 2 - Congenital Kyphosis
• Midthoracic/Thoracolumbar
• Slow progression / Round kyphosis
• Paraplegia - rare
• Low-back pain due to 2º lumbar
hyperlordosis
• Observe
• Posterior fusion-prevent progression
• Ant/Post fusion-correct deformity
Congenital Lordosis
• Defect of segmentation posteriorly in
presence of anterior growth
• Most patients have some degree of scoliosis
• Usually progressive
• In thoracic spine - respiratory compromise
• Early death can result
Treatment of congenital Lordosis
• Purely surgical
• Anterior fusion to prevent progression
• Ant/Post fusion for correction of
deformity
Timing of Surgery in Congenital
Spinal deformity
• Aim of treatment is to stop progression of
deformity
• Never postpone fusion until end of growth
• Early fusion - child will be taller &
straighter than if curve allowed to progress
• If curve progression detected - Take action!
Dysraphism
• Failure of two halves of an organism to fuse
• Abnormal midline structure in the neural
axis
• e.g. Myelomeningocoele
Spinal Dysraphism
• Faulty development in the midline of the
dorsal aspect of the embryo
• Resulting in bony and neural abnormalities
• Ranging from lethal rachischisis to
asymptomatic spina bifida occulta
• 10% of patients with congenital spinal
deformity have spinal dysraphism
Spinal Dysraphism
• Myelomeningocoele
• Meningocoele
• Diastematomyelia
• Tight filum terminale
• Fibrous Bands
• Intra- and extradural lipomas,
• Dermoids etc
Myelomeningocoele
• Spina bifida + protrusion of the dural sac
with neural elements
• In one study 20% patients also had
congenital scoliosis
• Bilateral lower limb paralysis
• Absence of sphincter control
• Anterolateral epiphysiodesis
• Diastematomyelia associated
Diastematomyelia
• Splitting of the spinal cord with a bony,
cartilagenous, or a fibrous band
• 5% patients with spine deformity
• Abnormal skin - a hair patch, a dimple, a
sinus, a naevus
• Lower limb atrophy, shortening, muscle
weakness, sensory deficit, a short/club foot
• Multiple spurs can occur
Cervical Spine Deformity
• Lateral defects - torticollis
• Defects of segmentation - Klippel-Feil
Syndrome[1912]
• Hemivertebra - Congenital scoliosis of
cervical spine - treat like other congenital
scoliosis - brace/posterior fusion
• Unsegmented bars rare
Klippel-Feil Syndrome
• Failure of segmentation of 2 or more
cervical vertebrae
• Neck Shortening/Neck webbing
• Loss of neck motion
• Low-set hairline
• May also have angular deformity
• Sprengel’s deformity
Anomalies associated with
Congenital spinal deformity
• GU malformations- 25%
• Cardiac [defects]- 10%
• VATER - V -vertebral, A -anal, T -tracheal,
E -oesophageal, R -renal
• Malformation of ears/hearing deficit
• Rib malformations /Tracheoesophageal
fistula
• Sprengel’s deformity/Club feet
Congenital Spinal Deformity
• Defects of Segmentation/Formation/Mixed
• 3 major deformities - Scoliosis, Kyphosis,
Lordosis
• Aim to prevent progression of deformity
• Mainstay of treatment is surgery