This information has beenwritten for the parents ofTOF children by TOFS(Tracheo-OesophagealFistula Support) – helpingchildren born unable toswallow.

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Vertebral problems in TOF/OA and VACTERLText created in association with Robert Dickson, Professor and Head of the Department ofOrthopaedic Surgery, the University of Leeds.

What is a vertebra?A vertebra is is one of many bones makingup the spinal column or backbone. Ourvertebrae are divided up into five typesaccording to their location:

The spine is, however, more than merely aflexible support for our torso; it housesthe spinal cord through which the nervescarrying signals to and from our body run.

The cord runs through the spinal canal,within the vertebrae, and nerves emergefrom it to our muscles, and return to itcarrying sensory information from ourskin and other body organs.

Vertebral anomaliesChildren are sometimes born withvertebrae which are only partly formed,(‘hemivertebrae’ or ‘wedge vertebrae’ –see illustration below) or vertebrae whichare fused together (‘block vertebrae’).The so-called ‘butterfly vertebra’ isactually two hemivertebrae which haveoccurred at the same level.

Cervical vertebrae arefound below the base ofthe skull, in the neck

Thoracic vertebrae are inthe chest and each carryan articulation with a rib

Lumbar vertebrae aredesigned to allow theflexibility that we have inthe small of the back

Sacral vertebrae arefused together to formthe sacrum, which formsa joint with our pelvis

Coccygeal vertebraemake up our ‘coccyx.’

Between the vertebraeare found structureswhich are commonlyreferred to as the ‘discs’– more correctly‘invertebral discs.’ Theseform the joints betweenthe ‘vertebral bodies.’

Missing or extra vertebrae – oftenassociated with an extra pair of ribs iflocated in the thoracic region of the spine– do not generally cause deformity orother problems.

Another group of problems which wdonot cause a gross deformity but can beequally problematic are those whichinvolve the shape of individual vertebraein different ways –␣ such as extraprojections from the bone’s surface –␣ andany abnormalities in the structuressurrounding the spinal cord.

Do anomalies matter?The significance of vertebral anomalies isrelated to two things: their ability to causespinal deformities, and their ability tocreate neurological problems.

Spinal deformitiesA visible deformity of the spine may bepresent at birth, as a direct result of thedeformity causing a bend in the spine, orit may become obvious as the child grows,the unbalanced forces which the anomalyexerts on the surrounding vertebraecausing them to grow abnormally.

t y p e s

There are three categories of spinal deformity:

• Scoliosis: a side-to-side curving of the spine whenviewed from behind

• Kyphosis: a forwards bending of the spine whenviewed from the side

ª Lordosis: a backwards bending of the spine whenviewed from the side.

These deformities may co-exist, and may be mild orsevere in their appearance and effect on theindividual’s life. If severe they may affect thefunction of organs in the chest (the heart and lungs)– however this is unlikely to develop after a child hasreached the age of 5 years. An individual’s ability tosit or stand can also be affected simply due to theamount of deformity present.

Neurological problemsMuscular weakness or loss of sensation may resultfrom spinal deformities if they put pressure on thespinal cord, but can also be caused by abnormalitiesin the shape of individual vertebrae (either co-existant with spinal deformity or in its absence) orfrom various problems affecting the relationship ofthe spinal cord to the vertebrae (discussed under‘spinal dysraphism’).

PS P I N A L D E F O R M I T YFortunately scoliosis is not painful at any stagethroughout life. Sometimes kyphosis in adolescencecan be painful but that usually settles at the end ofspinal growth.

Assessing vertebral anomaliesand spinal deformityIn assessing a child with congenital vertebralanomalies who has a spinal deformity, severalquestions are asked: how bad is the deformity now?(and – if severe – is it causing neurological orcardiorespiratory signs?) and is it likely to get worse?

Whilst the current status of a deformity can beevaluated using a combination of physicalexamination and radiography (X-rays), it is notalways possible to predict which anomalies are goingto progress. Absent or additional vertebrae will notpush the spine out of alignment and are thereforeunlikely to cause deformity. However, multipleanomalies may either cancel one another out, or havean additive effect, and while most solitaryhemivertebrae will not cause deformities which areprogressive, this depends on their location in thespine – so each individual case needs to be assessedby an experienced orthopaedic surgeon.

Reassessment at regular intervals may be required formany children – and may need to be continued formany years, since the adolescent growth spurt isoften a time when progression occurs rapidly.

t h e c o b b a n g l e

This is a measurement of the amount of deformitypresent, and is measured from radiographs (X-rays).A surgeon may take many views at a range of anglesin order to see the deformity from differentdirections. An increasing Cobb angle is indicative ofa worsening deformity.

Idiopathic scoliosisScoliosis can develop in the absence of congenitalvertebral anomalies; this is called ‘idiopathicscoliosis.’ TOF/VACTERL children may suffer thisform of deformity – which can become apparent atvarying ages and may either resolve spontaneously orprogress and require treatment.

Treatment of spinal deformitiesWhere a visible deformity is the only problem, andprogression is not an issue, a decision may need to bemade regarding how acceptable the deformity is tothe individual (and/or the family). If it is acceptable,then no surgery will be required.

If a deformity is progressing rapidly or the underlyinganomaly is of a type likely to worsen dramatically,then surgical intervention will be advised to halt thisprogression. The issue of acceptibility (as above) mayalso be relevant in order to decide whether only ahalting of progression will be sufficient, or whetherthe spine additionally needs to be straightened fromits current position.

A deformity which is already causing problems forthe chest organs or the spinal cord will inevitablyrequire surgical treatment to straighten the spine.

The exact surgical procedure will vary depending onthe nature of the problem(s). Surgery may berequired on the back or the front of the spine (orboth), depending on where the anomaly lies andwhere it is having its effect on growth/deformity.The operation may involve removal of bone, graftingof bone from other locations in the body (often a ribor the rim of the pelvis) in order to cause vertebra tobe fused together, or use of metal implants andscrews. For some children, staged procedures will benecessary (i.e. one operation followed by another atan interval of a week or two afterwards) and someindividuals may need to be prepared to undergooperations at different ages.

Whereas body casts and splints are sometimessufficient for the management of idiopathic scoliosis,there is no evidence that they are effective for childrenwith congenital vertebral deformities, although theymay in certain instances be useful for a short periodbefore surgery. Traction devices may also be used forthe same purpose in some patients. Bracing may beused for a while post-operatively, to support thesurgical repair.

Immediately after surgery, the child will requiremeticulous nursing care. With time, increasingmovement will be encouraged and it is oftensurprising how quickly recovery progresses.Restriction of activities is often necessary for somemonths, with regular follow-up checks essential toensure continued improvement.

Spinal dysraphismThis is a term which refers to a number of differentconditions with a common feature; they are allpossible causes of ‘spinal cord tethering.’

After birth, the spinal cord extends further down thespinal column than it does in adulthood. This meansthat during a child’s growth, the end of the cord‘migrates’ up the spinal column until it reaches itsfinal position, between the 1st and 2nd lumbarvertebrae.

Anything which prevents this movement will put thecord under tension, and this has become known as‘tethering.’

A small proportion of children with congenitalvertebral anomalies may have a degree of tethering,so it is important to assess for this during growth –and especially important to make adequate checksprior to surgery to correct deformities, sincestraightening of a deformed spine may increase anytethering, with potentially serious consequences.

Causes of tetheringVarious problems can cause tethering, but the mostcommon are:

t e t h e r e d c o n u s

The tapered end of the spinal cord is known as the‘conus.’ This continues as the ‘filum terminalie’which is attached to the coccygeal vertebrae.A shortening of the filum - usually associated with athickening which can be seen on a special X-ray (amyelogram – where a contrast material is injectedaround the spinal cord so that it can be seen on aradiograph) will restrict the migration of the cordwith growth.

This problem is also known as ‘fatty filum.’

I f a w h y n o t j o i n u s ?Information availablefrom either TOFS officeor the TOFS web site. T O F S

Related leaflets fromTOFS which you mightlike to read:1. Conditions occurring

with TOF/OA2. VACTERL -

an overview3. VACTERL -

anal anomalies4. VACTERL -

cardiac anomalies5. VACTERL -

renal anomalies6. VACTERL -

limb anomalies

These are all availablefrom the TOFS web site(www.tofs.org.uk)or from TOFS office.

TOFS also publishes abook, ‘The TOF Child,’which is suitable for bothparents and medicalprofessionals. Details areavailable from TOFS.

Additional resources:

The Scoliosis Associationoffers comprehensiveinformation and a sourceof support for families ofchildren with scoliosis.

Scoliosis Association (UK)2 Ivebury Court323-327 Latimer RoadLondon W10 6RA

Tel: 020 8964 1166Fax: 020 8964 5343

Website:www.scoliosis.org.uk

d i a s t e m a t o m y e l i a

This is a congenital anomaly whichprojects into the spinal cord and may evencause it to be split into two. Since 10% ofchildren with congenital spinal anomaliesmay have diastematomyelia, this must beexcluded by careful examination ofradiographs.

i n t r a s p i n a l l i p o m aThis is a fatty area within the spinal canal.

D e r m o i d c y s tThis is a cystic structure which iscomprised of tissues originating from theskin; it may extend down to the spine.

S p i n o c u t a n e o u s f i s t u l a

This much rarer problem is a connectionbetween the skin and the structuresaround the spinal cord. It is a seriouscondition due to the risks of infection.

Signs of tetheringIndications that a child has cord tetheringmay arise in various ways.

s k i n a bAn abnormally hairy patch of skin, adimple (e.g. sacral dimple), a port winestain or an area of scarring which ispresent at birth may all alert a doctor topossible causes of tethering. Theseproblems act like a ‘warning sign’,indicating that further investigations arerequired and that additional signs maydevelop as the child grows unlesscorrective surgery is undertaken.

Other problems usually do not presentuntil the 2nd or 3rd year of life:

p r o b l e m s VACTERL children may also have renalor anorectal problems which contribute toa lack of urinary control, however spinalcord tethering can also affect thisfunction.

l o w e r l i m b a b n o r m a l i t i e s

These either have the appearance of a‘club foot’ or take the form of a limp dueto an discrepancy in the size of the limbs.

X-rays will show abnormalities of thespinal column, however a properdiagnosis cannot be made until a surgicalexploration has been undertaken.

Treatment of tetheringWhere the only problem is a tetheredconus, this can be relatively easily releasedat surgery simply by cutting through therestricting filum.

Other problems will require moreinvolved sugery to remove the offendingstructure(s).

Usually the surgeon will also inspect thefilum when operating on problemsfurther up the spine to ensure that thereare not additional problems further downthe cord. This can be performed using anendoscope (flexible telescope) which isinserted down alongside the spinal cord.

As with spinal deformities, follow-up isimportant to ensure that no furtherproblems are encountered.