Diagnose & Behandlung
Congenital deformity of the spine-classification
classification of congenital scoliosis
- failure of formation-wedge vertebrae (2 pedicles), half vertebrae...
- unsegmented half vertebra: fused to the vertebral body above and below
- partially segmented half vertebra
- fully segmented half vertebra-separated above and below by disc space
- failure of segmentation-block vertebrae, unilateral bar...
- combination
half vertebra, contralateral thoracic curve special combinations
- hemimetameric shift-hemivertebra counterbalanced by another one on the contralateral side in the same region
- unilateral bar and contralateral hemivertebra-"worst case scenario", progression per year up to 10° Cobb!
worst case scenario: 2 wedge vertebrae severe progression
unilateral bar and contral-
ateral half-vertebra
- hemivertebra thoracolumbar 2-3,5°/ye
- 2 hemivertebrae 5°
- unilateral unsegmented bar 6-9°
- unilateral unsegmented bar with contralateral hemivertebra >10°
- most severe progression in thoracolumbar region!
- most severe progression up to 5th year and in adolescence/puberty
combined deformities, spine out of balance classification of congenital kyphosis (Mc Master)
- failure of formation
- posterolateral quadrant hemivertebra
- butterfly vertebra
- posterior hemivertebra
- wedge vertebra - failure of segmentation
- anterior unsegmented bar
- block vertebra - mixed anormalies
- unclassifiable anomalies
congenital vertebral displacement-sudden sagittal kyphotic displacement, most severe of congenital kyphosis
there exist no known genetic abnormalities associated with the development of congenital kyphosis
Klippel-Feil-syndrome
- segmentation defects of the cervical spine
- plagiocephaly
- reduced cervical spine mobility
- anomalies of urinary system in one third cong. Heart anomalies in 15%
- Sprengel in 20-30%
- problems in hearing in one third
Sprengel deformity
- congenital failure of descendence of one or both shoulders; mostly left shoulder elevated
- „omovertebral bone“ (connection scapula-C5 or C6)
- often Klippel-Feil, rib anomalies…
- 75% girls
- scapula small and rotated
Klippel-Feil with Sprengel deformity
congenital sacral problems
- lumbosacral abnormalities (partial, total, asymmetric, symmetric)
- sacral obliquity
- sacral dysplasias up to sacral agenesis
- sacral dysraphism (MMC)
congenital sacral obliquity
- angular deformation of the sacrum from a horizontal line drawn parallel from a line across
- the femoral heads from congenital origin!
- it is not a pelvic obliquity!
- mostly sacral endplate elevated at the right side
- max.20°, but can cause lumbar scoliosis up to 50°-effect like a lumbar hemivertebra
congenital sacral agenesia (Renshaw 1978)
- unilateral agenesis, partial or total
- symmetrical partial with stable articulation iliac bone-S1
- variable lumbar and total sacral agenesis with articulation iliac bone-lowest lumbar vertebra
- variable lumbar and total sacral agenesis with either fused iliac bones or amphiarthrosis
symptoms of severe forms
- often maternal diabetes
- in severe cases bowel and bladder dysfunction
- deformities of hips (flexion, abduction, outward rotation), knees (flexion contracture),
- feet, atrophy of the legs, motoric palsy („Buddha-like-position“)
congenital rib deformities
- mostly in combination with congenital scoliosis, rarely with congenital kyphosis
- 70% had thoracic or thoracolumbar concomitant congenital scoliosis
- mostly on concave side of unilateral failure of segmentation
- 40% with Sprengel deformity
- prognosis without difference to scoliosis without rib fusions
associated anomalies
- syringomyelia (abnormal fluid collection in the medullary canal of the spine,
- caused by Arnold-Chiari-syndrome, basilar invagination, cord compression, trauma,
- arachnoiditis, can cause scoliosis, kyphosis, motor weakness, dyscoordination, neuropathic
- arthropathy, pain)
Chiari malformation (caudal dislocation of cerebellar tonsils below the foramen magnum), diastematomyelia, diplomeylia-fibrous ligament or osseous bar, mostly in lumbar spine
diastematomyelia tethered cord (filum terminale pulls cord down to L4)…MRI brain stem and complete
tethered cord spine; release always before spine surgery, better not at the same operation; seldom spontaneous release of symptoms in scoliosis >40°
congenital heart disease (25%)-septum defects, hypoplastic left heart, transposition…
echocardiogram
genitourinary anomalies (20%)-renal aplasia, duplicate ureters, hypospadia…renal
ultrasound
anamnesis for neurologic infantile symptoms
- is the child toilet trained ?
- bed wetting problem ?
- bowel or bladder „accidents“ ?
- limping ?
- shoe size difference ?
clinical evaluation
- spinal dysraphm ?
- asymmetric calves, cavus feet, clubfeet, vertical tali ?
- truncal or pelvic imbalance ?
- spinal balance frontal and sagittal
- rib cage deformity ?
- in-and exspiration capacity
- neurologic deficit ?
- standing and sitting size
- rib hump
- asymmetry of lumbar height
- height of shoulders
- height of pelvic rim
- vertical centre line
radiologic parameters ap
- Cobb - angle (main-curve, secondary - curve)
- rotation (Nash and Moe 0 - 4)
- deviation of perpendicular line
- pelvic inclination
- Risser -sign (0-5)
radiologic parameters sagittal
- evaluation of perpendicular line S1
- evaluation of L4- (should be horizontal)
measurements
- Cobb-angle thoracic cyphosis
- Cobb-angle lumbar lordosis
- Cobb-angle Th11-L1 (should be 0°)
CT in congenital deformities
- bony details
- good details of apical hemivertebra (for hemivertebra excision)
- myelo-CT for complex dysraphic problems
- CT-models for complex deformities
posterior hemivertebra in CT
MRI in congenital deformities
- for detection of neural axis abnormalities
- necessary MRI from brain stem to sacrum
- evaluation of disks and growth potential
- evaluation of kidneys and lungs…
lung function
„of all spinal deformity patients having early death due to cor pulmonale , congenital scoliosis patients probably have the highest frequency“ (Wimter 1983)
lung function analysis (total capacity, vital capacity, Tiffeneau-test…)
blood gas analysis