Paediatric Orthopaedics Review A Must Read

8/14/2019 Paediatric Orthopaedics Review A Must Read

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Around Day 12 after conception, the PRIMITIVE STREAKappears and the newly begun ectodermal cells form the

MESODERMby blending endoderm and ectoderm.

The creation of connective tissue, blood vessels, blood cells, muscles and the G.U. system is then begun as

MESENCHYME, (which comes from MESODERM) emerges and becomes active.

Within 21 days ECTODERMforms the NOTOCHORD- at the cranial end of the PRIMITIVE STREAK.

At this time the NEURAL CRESTcells differentiate to begin the formation of the peripheral narrow system, the

automatic nervous system and Schwann cells.

At this time too, SOMITESare formed from MESODERMand they begin to line both sides of the NOTOCHORD.

Eventually they will form 42-44 pairs.

The SOMITEScontinue their developmental process and soon become a lateral dermatome, a medial myotome and

a ventral scleratome. This becomes in due time, the basis of the skin, muscle and skeletal elements, respectively.

By week 6 after conception, the median artery [which initially supplies the hand] evolves.

At this time the limb buds also develop. The upper extremity, with pronated forearms, appears first - and begins to

rotate externally. Within days the lower extremity appears and begins to rotate internally.

By week 7 the ten finger rays appear and continue to differentiate till week 12 - 13 when the hands appear.

During this initial 12 week period the formation of the bodys solid framework also begins. The beginning process

involves MESENCHYMAL AGGREGATIONinto a cartilage prototype. Gradually but systematically each cartilage

model becomes solid bone. This process applies to all bones except those formed through intra-membranous

ossification such as the skull.

By week 12 the PRIMARY CENTRESof OSSIFICATIONin the DIAPHYSESof most bones has appeared. Most

SECONDARY CENTRESfor OSSIFICATIONare not present however, until after birth.

The term Dysplasia refers to the range of deformities caused by intrinsic bone disturbance.

Dwarfism can be PROPORTIONATE - manifesting a symmetric decrease in both truncal and limb length.

Dwarfism can be DISPROPORTIONATE - manifesting either a short limb disorder or a short trunk disorder. Short -

limbed dwarfism can affect either the proximal, the middle or the distal region of a limb.

FORMS OF DYSPLASIA include: Achondroplasia Spondyloepiphyseal Dysplasia Chondrodysplasia Punctalta Kneist

Syndrome - AD Metaphyseal chondrodysplasia Multiple Epiphyseal Dysplasia Dysplasia Epiphysiallis Haemimeliea

[known as Trevors Disease] Progressive Diaphyseal Dysplasia - AD Mucopolysaccharidosis Diastrophic Dysplasia -

AR Cleidocranial Dysplasia - AD Benign Bone Growth Dysplasia

A) Achondroplasia Achondroplasia

is the most common form of disproportionate dwarfism. It is an autosomal dominant (AD) condition with an 80%

spontaneous mutation. It is caused by abnormal endochondral bone formation [in the proliferative zone] and can be

associated with late-in-life childbirth. It is a quantitative [not a qualitative] cartilage defect. The afflicted child will have

dwarfed limbs and a normal trunk.

Most will also exhibit a prominent forehead, a small nasal bridge, thoraco-lumbar kyphosis, excessive lordosis, trident

hands, radial head subluxation plus hypotonia, during the first year of life.


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Most Achondroplasia patients will have normal intelligence. They will present a normal sitting height but a standing

height in the lower 3%. The motor development of each including walking will be noticeably delayed. Clinical

symptoms include: posterio vertebral scalloping, delayed appearance of growth plates, short, though wide, iliac wings

narrowed interpedicular distance and wedging {L1 -3, T12/L1}, possible radial or tibial bowing coxa valga, genu varum

and metaphyseal flaring with an inverted v shaped distal femoral physes a severely impaired growth pattern of the

forearm magnum [which could cause apnea.] Surgical Options include: decompression of the spine plus bone grafting

for any developing neurologic deficit.Arterial fusion with strut grafting also posteria fusion whenever there is

progressive kyphosis, unaccompanied by neurologic problems.

B) Spondyloepiphyseal Dysplasia

This disproportionate affliction has three major forms: Congenita Form Tarda Form Pseudoachondroplastic Dysplasia

[This is considered in some books to be separate]. The Congenita Form is short trunked dwarfism involving the

vertebra and epiphyseal centres, AD inheritance plus clinical heterogeneity. It is not distinguishable at birth.

Symptoms can include platyspondyly, scoliosis,flattened facies, odontoid hypoplasia, coxa vara and / or genu valgum.

Retinal detachment and myopia are also common. The Tarda Form affects the spine and the larger joints primarily

and does not manifest itself till a child is 8-10. The hip often becomes dislocated and premature osteoarthritis, and

also scoliosis, may develop. [ Osteotomies may be useful in easing the osteoarthritis]. The Pseudoachondroplastic

Dysplasia has an AD inheritance pattern and is similar to Achrondoplasia without the flattened facies. Signs and

symptoms include cervical instability; scoliosis leading to lumbar lordosis, plus significant bowing of the hip, knee and

elbow flexion contractures.

C) Chondrodysplasia Punctata

This disorder has both an autosomal recessive [AR] form and an autosomal dominant [AD] form. The AD form has

variations in the severity of its symptoms but the AR rhizomelic form is almost always fatal soon after birth. The

multiple punctate calcifications which cause the disorder can be clearly detected on a Radiograph.Signs and

symptoms include asymmetric limb shortening, spinal deformity and also cataracts.

D) Kneist Syndrome - AD

This disorder produces short limbed, short trunked dwarfism. The many symptoms include joint stiffness, distorted

femora, scoliosis, kyphosis plus hypoplaslic pelvis and spine. Kneist Syndrome sufferers are also prone to respiratory

problems, otitis media, cleft palate, myopia plus retina detachment. Radiographs are necessary to pick up early

osteoporosis and also platyspondyly which is common in all sufferers.Symptomatic treatment includes constant

therapy for joint contractures and ophthalmic consultation. Reconstructive procedures may also be necessary if early

hip degenerative arthritis becomes severe.

E) Metaphyseal Chondrodysplasia

Sufferers exhibit symptoms of a group of heterogenous disorders, all characterised by the metaphyseal changes of

tubular bones with normal epiphysis. McKuside This is an AR, cartilage / hair dysplasia, seen most commonly among

Amish and Finnish peoples. Signs and symptoms include atlantoaxial instability and ankle deformity - due to distal

fibular overgrowth - plus an abnormal immunologic competence. Jansen - AD. This is very rare. Patients have

hypercalcemia. They are quite retarded with dwarfed limbs. Their eyes are set widely apart. They have a monkey like

stance. Schmid - AD. Patients have coxa vara and genu varum which causes their stunted growth and bowed legs.


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The disorder is hard to diagnose early as the symptoms do not become pronounced until late in childhood. Sufferers

are advised to avoid obesity.

F) Multiple Epiphyseal Dysplasia

This is a disproportionate form of dwarfism which does not manifest symptoms until a child is school aged, sometimes

in his/her teens.It is characterised by delayed and/or irregular ossification at multiple epiphyseal. There are two forms:

Ribbing - which is mild Fairbank - which is much more severe. Clinical Problems Include very short, stunted

metacarpals/metatarsals, abnormal ossification, T12/L1 notching and deformed ring apophysis, irregular femora,

valgus knees [osteotomies may help],waddling gait, early arthritis of the hip.

G) Dysplasia Epiphysealis Hemimelica [Commonly known as Trevors Disease]

This disorder affects only one limb and only one half of this limb.Sufferers develop an osteochondroma.[This is a

benign tumour made up of a stalk of bone capped with cartilage.] It manifests itself in late childhood and develops into

an irregular shaped enlargement of half of the epiphyses - usually the medial half. It most commonly affects the knee

joint. Large osteochondromas can interfere with skeletal growth causing deformity. In some instances they are

relatively problem free. Partial excision of the overgrowth, if large is required.

H) Progressive Diaphyseal Dysplasia

AD Sufferers develop symmetric, cortical thickening of one or more of the larger bones such as the tibia, femur or

humerus. Only the diaphyseal portion of the bone is affected. The attached muscle is subsequently weakened so

walking is delayed in infants whose leg bones are affected. Progressive symptoms include scoliosis, possible limb

length inequality plus increasing difficult of movement.

I) Mucopolysaccharidosis

This form of dwarfism - which is proportionate - is caused when a hydrolase enzyme deficiency creates an

accumulation of mucopolysaccharides [MPSs]. It is easily diagnosed due to the amount of complex sugars which

appear in the urine. There are four main types. Hurler Syndrome Hunter Syndrome Sanfilippo Syndrome Morquio

Syndrome. [This is the most common. It manifests itself when the patient is about 18 months old.] Signs and

Symptoms include: knock knees, a waddling gait, thoracic kyphosis, coxa vara with non ossified femoral heads,

anterior beaking of vertebrae, thickened skull bullet shaped metacarpals, C1/C2 instability [due to odontoid

hypoplasia] which requires decompression and also cervical fusion.

J) Diastrophic Dysplasia - AR

This is a very severe, short limbed form of dwarfism.It is associated with a disorder of type II. Collagenin the physis.

The patients body takes on a twisted appearance. Other signs and symptoms include painful joint contractures, rigid

club feet, mid thoracic kypho-scoliosis, cervical kyphosis [which requires neurologic sequela treatment] a cleft palate,

spina bifida occulta, thoracholumbar kypho-scoliosis, cauliflower cars and atlantoaxial instability due to odontoid

hypoplasia.

K) Cleidocranial Dysplasia - AD

This is a proportionate form of dwarfism which affects only those bones which are formed intramembranously.

Patients suffer delayed skull suture closure, frontal bossing , coxa vara [an intertrochanteric osteotomy could be

considered if varus is


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The growth of the afflicted child is stunted and he/she will have aplasia of part or all of the clavical. Often the lateral

part of the clavicle will be missing. L) Benign Bone Growth Dysplasias These disorders fall into the major categories.

Hereditary Exostosis [An outgrowth of bone, usually the femur or tibia] Maffueci Syndrome Ollie's Disease

There are seven major disorders listed in this category. A brief description of each is given in the ensuing text:

Down Syndrome (Trisomy 21)

This is the most common chromosomal abnormality.

There is a higher incidence among late-in-life babies.

The afflicted children usually manifest ligament laxity, hypotonia, endocrine disorders, premature ageing, mental

impairment to varying degrees and an inclination towards heart disease.

Orthopaedic problems include:

- spinal disorders such as scoliosis and spondylolisthis

- hip instability may need an osteotomy.

- patellar dislocation

- planovalgus feet

- metatarsus primus varus

- slipped capital femoral epiphysis

If surgery is planned preoperative cardiac evaluation is essential.

Turner Syndrome

D) Turner Syndrome - 45, XO affecting females.

Afflicted girls exhibit some or all of the following symptoms.

- short stature

- cubitus valgus

- web neck

- sexual infantilism

- scoliosis [which can be exacerbated to some degree with hormonal therapy]

- renal anomalies [affecting about 2/3 of patients]

- cardiac anomalies [affecting about 1/3 of patients]

- genu valgum

Malignant hyperthermia is common after anaesthetic use

Noonan Syndrome

Affecting males.


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Boys suffering this disorder differ from the Turner Syndrome girls in that they have normal sexual genotypes. Other

symptoms are similar including a high risk of malignant hyperthermia if anaesthetics are used.

Prader-Willi Syndrome

This is a chromosomal abnormality. Afflicted children are hypotonic and intellectually impaired. They develop a floppy

appearance and gait and tend towards obesity.

They will suffer one or more of the following symptoms

- growth retardation

- hypoplastic genitalia

- scoliosis

- hip dysplasia

- insatiable appetite

Menkes Syndrome

This is an x-linked recessive disorder of copper transport. It affects bone growth and causes an unusual crinkly hair

condition. It differs from Occipital Horn Syndrome [which also affects copper transport] in that there are no boney

outcrops from the occiput of the skull.

.

Rett Syndrome

Females

This disorder is characterised by progressive impairment and stereotaxic abnormal hand movements. It does not

manifest until a child is 6 to 18 months of age at which stage they exhibit symptoms similar to cerebral palsy. Most will

later develop scoliosis with a c shaped curve which is unresponsive to bracing. Spasticity causes joint contractures

which are treated as in cerebral palsy.

Teratogens

Disorders have been presented in three separate categories.

Material Diabetes

This can lead to sacral agenesis and anancephaly, also heart defects.

Foetal Alcohol Syndrome

Maternal alcoholism can cause many growth disturbances including:


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- CNS dysfunction

- hip dislocation

- C-spine vertebral and upper extremity fusions

- dystrophic facies

- congenital scoliosis

- myelodysplasia

Others

Unborn children can suffer orthopaedic disorders due to:

- drugs such as thalidomide, aminopterin, phenytoin

- trace metals

- maternal conditions associated with infection and intra-uterine factors.

Haemophilia

Patients suffer severe bleeding episodes plus skeletal / joint sequelae. It is a sex-linked recessive [XR] disorder withthree faces:

- decreased factor VIII [Haemophilia A]

- abnormal factor VIII with platelet dysfunction [von Willebrands disease]

- factor IX [Haemophilia B known as Christmas Disease]

It can be mild [5-25% of factor present], moderate [1-5% of factor present], or marked [1% of factor present].

Haemarthrosis results in painful swelling and severe difficulty in movement of affected joints. Deep intra muscular

bleeding is common. This can lead to the formation of a blood cyst (pseudotumour) in soft tissue or bone.

Radiographic findings in haemophilia include:

- epiphyseal overgrowth with leg length discrepancy

- generalised osteoporosis with resultant fractures

- squaring of the patellas and condyles

- cartilage atrophy due to enzymatic matrix degeneration

Therapy includes fracture management, open synovectomy, arthroscopic synovectomy, contacture release,

osteotomies, radiation synovectomy and total joint anthroplasty. Overall treatment of haemophilia has become more

complex as the risk of HIV transmission in factor VIII replacement, has increased. Prior to screening almost all

haemophiliacs became H.I.V. positive.

Antibody inhibitors are present in 20% of haemophiliacs and are a relative contraindication to surgery. Large levels of

factor VIII are required to offset the inhibitors.

Leukemia


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This is the most common malignancy of childhood. It is caused by septic arthritic lesions [occasionally lytic] or

demineralisation of bones. About 1/3 of afflicted children develop musculo-skeletal complaints usually of the back,

pelvis and legs. Management includes chemotherapy.

Sickle Cell AnaemiaSickle Cell disease usually manifests when the afflicted child is aged 2-3 years. It usually leads to bone infarctions.

The symptoms include:

- osteonecrosis of femoral and humeral heads

- growth retardation because of skeletal immaturity.

- an inclination to salmonella

- dactyulitis [hand and foot swelling]

- septic arthritis

- osteoporosis and cortical thinning

Preoperative oxygenation and exchange transfusion are helpful for sufferers who require surgery. Hydroxyurea has

produced dramatic pain relief for bone crises.

Gauchers Disease

also known as Familial Splenic Anaemia. It is an aberrant AR lysosomal storage disease. It is characterised by an

accumulation of cerebroside in cells of the reticuloendothelial system.

Sufferers exhibit some or all of the listed symptoms:

- metaphyseal enlargement

- femoral head necrosis

- osteopenia- moth eaten trabeculae

- Erlenmeyer flask distal femora

- possible sclerosis

- occasional Bone Crisis as in Sickle Cell Anaemia.

- bleeding abnormalities

The disease is most commonly seen in children of Jewish descent.

Niemann - Pick Disease

This disorder is caused by an accumulation of phospholipid in RES cells. It is most common in children of European

Jewish descent.

It is characterised by marrow expansion and cortical thinning in the long bones plus coxa valga.

Thalassemia

It is most common in children of Mediterranean descent.

Symptoms are similar to some in Sickle Cell Disease including severe bone pain. Leg ulceration is common.

Radiographs are needed to pick up developing osteoporosis and distorted trabeculae.


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Acquired Immunodeficiency Syndrome [AIDS]

The incidence of children born with AIDS has increased dramatically. Afflicted children require ongoing medical

support. Protection for surgeons is essential.

Nine major metabolic /arthritides disorders are presented. A brief description of each is presented in ensuing texts.

Infantile Cortical Hyperostosis

This condition is benign and self limiting. It manifests before a child is 9 months old presenting soft tissue swelling

and bony cortical thickening - especially of the jaw and ulna. There is always a periosteal reaction. A similar disorder

occurs in older children, with hypervitaminosis A. Infantile Cortical Hyperostosis does not however produce bleeding

gums, fissures at the corners of the mouth or the liver abnormalities associated with the disorder suffered by older

children.

Older children are also likely to suffer scurvy and progressive diaphyseal dysplasia.

Osteogenesis Imperfecta Ol.

This disorder presents a decreased collagen secretion. Common symptoms include:

- brittle wormaian bones

- scoliosis

- short stature

- ligamentous laxity

- tooth defects

- hearing defects

The disorder is ongoing displaying differing inheritance patterns and severity.

Classification of use is that of Sillence (Type I, AD, blue sclerae, tarda teeth involved -A or B; type II, AR, blue

sclerae, lethal; type III, AR normal sclerae, birth fractures, short, progressive; type IV, AD, normal sclerae, mild form)

The clinical Factors include:

- thin cortiees

- fractures [the bones do not remodel]

- spinal deformities including scoliosis

Symptomatic management includes early bracing and sofield osteotomies using either fixed length Rush rods or

telescoping intramedullary rods.

Rickets

This disorder is caused when the mineralisation at the epiphyses of long bones is affected by lack of calcium; and

sometimes phosphorus. Severe cases are characterised by:


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- brittle bones with physeal widening

- bowing of long bones

- ligamentous laxity

- enlargement of costal cartilages

- dorsal kyphosis

- transverse radiolucent lines

- flattening of the skull (platyspondyl)

- gross distortion of the maturation zone at the growth plate

- a poorly defined zone of provisional calcification.

- swiss cheese trabeculae

There are several varieties of rickets based on the base cause which could be poor diet, G.I., kidney or end-organ

dysfunction. See adult classification.

Idiopathic Juvenile Osteoporosis

This is a rare, self limited disorder. It manifests in an afflicted child at around 8 - 12 years of age. The first signs

include bone and joint pain, growth arrest and osteopenia. Unlike Rickets, calcium and phosphorus levels are normal.

Spontaneous resolution usually occurs 2 - 4 years after the onset of puberty.

Osteopetrosis

This disorder is the result of a thymus defect which causes the failure of osteoclastic and chondroclastic resorption.

The clinical factors include:

- dense bone / marble bone

- Erlenmyer flask proximal humerus / distal femur

- rugger jersey spine

There is a mild form - AD. There is a more serious malignant form - AR. Bone marrow transplants may be helpful in

treating the malignancy.

Juvenile Rheumatoid Arthritis / Juvenile Chronic Arthritis

This is a persistent, non-infectious disease which is usually diagnosed if the symptoms last more than 6 weeks afterother etiologies have been ruled out. The symptoms include:

- a rash

- iridocyclitis

- pericarditis

- presence of rheumatoid factor

- intermittent fever


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- morning stiffness

- C. spine involvement

- tenosynovitis

Juvenile Rheumatoid Arthritis affects more girls than boys. The wrists, hands, spine, hips, knees, ankles and feet can

all be seriously affected. In 50% of cases the patients symptoms resolve with sequelae usage.In 25% of cases the patients remain slightly disabled.

In 25% of cases the patients suffer ongoing crippling arthritis and also blindness.

Arthrodesis and Arthroplasty may be required for severe J.R.A.

Slitlamp examination is necessary twice yearly as progressive iridocyclitis can lead to blindness if left untreated.

Connective Tissue Syndrome

This disease presents a wide spectrum of features. They have been grouped; to form three separate sections.

1) Marfan Syndrome

This is an AD disorder of collagen synthesis.

It is characterised by:

- arachnodactyly

- pectus deformities

- cardiac deformities

- scoliosis

- sedia finders

It can also include dural ectasia and meningocele.

2) Ehlers - Danlos Syndrome

This is an AD disorder. It is characterised by:

- cigarette paper skin

- soft tissue / bone fragility

- soft tissue calcification

- joint hypermobility dislocation

- on occasion, vascular and visceral tears

3) Homocystinuria

This is the result of an AR inborn error of methionine metabolism.


- osteoporosis

- inferiod lens dislocation

- a marfanloid - like habitus - with suffering joints.


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Mental retardation is common with this disorder. Early treatment with Vitamin B6 and a decreased methionine diet is

sometimes successful.

Acute Rheumatic Fever

This is an auto immune process which affects children in the 5 - 15 age bracket. It manifests a few weeks after a

streptococcal infection.


- erythema marginatum [ a pink rash on trunk & extremities, not the face].

- migratory arthritis

- fever

- subcutaneous nodules

- carditis

TreatBRACHIAL PLEXUS PALSY

Better obstetric management has led to a decrease in severity of Brachial Plexus Palsy but there are still two babies

affected in each 1000, born. Stretching or tearing of the brachial plexus occurs usually because of a forcep delivery, a

larger than average baby, a breach birth, shoulder dystocia or prolonged labour.

The Erb-Duchenne (C5,6) type affecting the elbow wrist or hand is the least disturbing.

The Klumpke (C8,T1) type presents a worse prognosis than the above.

The Total Plexus condition is the most disturbing of all.

In 90% of cases the problem resolves without surgical intervention. Surgery would be indicated however, if theres a

lack of bicep function, 3 months after the injury.

The surgical options include Latissimus and teres major transfer to the shoulder external rotators, proximal humerus

rotational osteotomy, tendon transfers for elbow flexion, releasing contractures or microsurgical nerve grafting.

TORTICOLLIS

This deformity is associated with hip dysplasia and metatarsus adductus, resulting from contracture of the

sternocleidomastoid muscle.

Obvious symptoms may include:

- ophthalmologic disorders which cause the child to tilt his/her head to see.

- posterior fossa brain tumours.

- C-spine anomalies

The etiology remains uncertain but studies suggest that it is caused by an intrauterine Compartment Syndrome.

Fibrosis of the muscle plus a palpable mass [which appear within 4 weeks] are usually the first signs. The muscles of


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most affected children respond to ongoing, passive stretching within the first year. If the problem persists surgical

release of the muscle distally [or proximally and distally] may be required.

CONGENITAL PSEUDOARTHROSIS OF THE CLAVICLE

This disorder involves the middle third of the clavicle. It does not have an associated fracture callus and almost

always occurs on the right side.

Surgical repair is needed if the child suffers severe pain.

ment includes salicylates and appropriate antibiotics.

Cerebral Palsy is the result of injury to the immature brain. It is a non progressive neuromuscular disorder.

Etiology includes perinatal infections and prenatal intrauterine factors. The disease results in a mixture of muscle

weakness and spasticity. Cerebral Palsy can be classified according to the placement of the disorder [topography]

or the particular movement disorder [physiology].

Topographic Classification includes:

Diplegia

affecting the lower extremity.

(Most sufferers eventually walk. IQ is unaffected. Strabismus is common.)

Hemiplegia

affecting both the upper and lower extremities on one side, with spasticity.

(The sufferers will eventually walk.)

Total Involvement

with a high mortality rate. [Sufferers are usually unable to walk. IQ. is low]

Physiologic Classification includes:

athetosis

which presents a constant succession of slow, writhing involuntary movements, [It is difficult to treat].

ataxia

with the affected child unable to coordinate his/her muscles for voluntary movement, resulting in an unbalanced gait.

spasticity

exhibiting increased muscle tone and hyperreflexia resulting in slow restricted movements.

mixed

involving a combination of spasticity and athetosis with whole body involvement.


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An Orthopaedic Assessment is based on thorough birth and developmental history taking. A patients locomotor

profile is based on the persistence of primitive reflexes. (The presence of two or more usually means the child will be

a nonambulator).

Surgery is commonly performed on patients who have no potential for walking on independence.

The purpose is to :

- avoid painful arthritis by keeping the hips located.

- maintain a sitting posture

- maintain spinal stability

The use of a toxin (intramuscular botulinum toxin) to temporarily reduce dynamic spasticity is helpful though still

experimental. It is thought that its use promotes normal muscle growth and avoids the development of soft tissue

contractures.

The treatment most used for spastic C.P. involves the surgical resection of the dorsal rootlets not exhibiting a

myographic or clinical response to stimulation. It requires multi-level laminectomy or laminoplasty.

Specific Disorders include:

Gait Disorders

These are the most common. The use of three dimensional computerised gait analysis [with dynamic E.M.G] plus

force plate studies permit more effectiveness preoperative decision making and also post operative analysis. Specific

abnormalities involving abnormal gait of the knee can be classified as Jump Knee: Cronch Knee: Stiff Knee:

Recurvatum Knee. Specific procedures have been devised to treat each as required.

Other surgical options for gait disorders include:

hip adduction - adduction release

knee flexion - hamstring lengthening

knee hypertension - rectus femortics lengthening

talipes valgus - peroneal lengthening / grice subtalar fusion

hip flexion - psoas tenotomy or recession

stiff leg gait - distal rectus transfer to hamstring

spastic hip - adductor release

talipes varus - split anterior or posterior tibialis transfer

hallux vagus - osteotomy / MTP fusion

Surgery is usually performed in the 4-5 year age group.

Spinal DisordersSpinal disorders usually involves scoliosis and tends to make wheel chair occupation difficult. Two types occur:

Group1. - double curves with thoracic andlumbar components andlittle pelvic obliquity

Group 2. - larger lumbar or thoracolumbar curves with marked pelvic obliquity.

Custom moulded seat inserts will allow better positioning and comfort but will not prevent further curve progression.

Orthopaedic surgery varies according to the disorder:

group 1. curves in ambulators are treated with posterior fusion only.


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group 1. curves in sitters, plus group 2. curves, require both anterior and posterior fusion with luque rods and

sublaminar wires together with pelvic fixation including the Galveston technique and unit rod variation.

Hip Subluxation / Dislocation

The goal is to keep the hip reduced avoiding painful arthritis.

Femoral or acetabular osteotomies may be required to maintain this stability .

This disorder prevents 4 separate stages.

1. Hip at Risk.Hip

May require surgery before age 3. Affirmed by abduction of


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phases of gait. The split posterior tibialis transfer is effective in those cases which exhibit spasticity of the muscles,

weak peroneals and flexible varus foot.

Most recently combined splits anterior tibial tendon transfer has been used with intramuscular lengthening of the tibial

tendon for dynamic varus of the hindfoot and

HEREDITARY NEUROPATHIES

The Hereditary Neuropathies category includes all disorders associated with multiple G.N.S. lesions

Friedreichs Ataxia

This involves motor and sensory defects. It is a spinocerebellar degenerative disease with manifests before age 10.

The symptoms include nystagmus, casus foot, cardiomyopathy, scoliosis and a distinct change in gait.

Charcot - Marie - Tooth Disease [Peroneal Muscular Atrophy]

There are two forms, one manifesting during teenage years [a hypertrophic form] and a neuronal form manifesting in

later life. Patients suffering the hypertrophic form exhibit peroneal weakness, hammer toes causing corns and

callouses, pes cavus and stork legs.

Treatment includes plantar release triple arthrodesis versus calcaneal, posterior tibial tendon transfer and possibly,

metatarsal osteotomies. This form involves motor defects much more than sensory defects

Dejerine - Sottas Disease - AR.

This is a hypertrophic neuropathy of infancy [CMT-3]. Spinal deformities are common [degenerating to wheelchair

condition by 3rd decade] plus pes cavus foot, delayed ambulation and stocking - glove dysesthesia.

Riley - Day Syndrome [Dysautonomia]

This is the main one of five inherited [AR] sensory/autonomic neuropathies. It is found only in children of Ashkenazic

Jewish descent. Sufferers exhibit frequent sweating alacrima, postural hypotension and sensory loss, pneumonia,

plus dysphagia.

MYELODYSPLASIA [Spina Bifida]

Spina Bifida is the result of a disorder of the spinal cord development /closure or a secondary rupture of the

developing cord secondary to hydrocephalus. Patients suffer muscle imbalance, possible hip dislocations due to

intrauterine, positioning, club feet and knee hyper-extension. Fractures [particularly of the hip and knee] are also

common. If the afflicted child has tethered cord, hydrocephalus or hydromyelin, he/she will suffer a rapid increase of

scoliotic curvature, new neruologic deficit, also spasticity.

Principles of Overall Treatment

careful, ongoing observation/assessment of the patient and the effect of each recognised milestone of the

disease.

proper use of orthotics.

surgery [if necessary] to focus on balancing of muscles and correction of deformities.

provision of a latex free environment if surgical procedures are performed.

Hip Disorders


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These include:

Duchenne

This affects young boys only. The first symptoms are decreased motal skills, clumsy walking, calf pseudohypertrophy,

definite Gowers sign, lumbar lordosis. Clinical investigations will show an absent dystrophia protein on muscle biopsy

DNA testing and a markedly elevated C.P.K.

Hip extensions are often the first muscle group affected.

Afflicted boys lose independent ambulation by age 10; are wheelchair bound by age 14, and become bedridden by

age 16, owing to the resultant spinal deformity. Cardiorespiratory complications are frequent and patients usually die

before age 20. Beckus Dystrophy is similar but these patients tend to live longer.

Fascioscapulohumeral - AD Disorder

This affects people between 6-40 years of age. It is characterised by a winging of the scapular which can be

stabilised by scapulothoracic fusion. Facial muscle abnormalities also occur sometimes upper arm muscles

disturbance as well, though C.P.K. remains normal. It is inherited in an autosomal dominant pattern.

Others

These include Gowers, involving distal disorders, with a high incidence in Sweden, also ocular, oculopharyngeal with

a high incidence in French Canadians.

MYOTONIC MYOPATHIES

This category includes A.D. disorders presenting the inability of muscles to relax after contractures.

These are three basic types:

1. Dystrophic Myotonia [Steinerts]

caused by a defect in chromosome 19. Other features include distal/lower extremity involvement, dive bomber

E.M.G., small gonads, low IQ and heart disease.

2. Paramyotonia Congenita [Eulenburgs]

caused by a defect in chromosome 17 skeletal sodium channel. The symptoms become apparent with exposure to

cold, especially in the hands. Quinine or mexiletine are sometimes helpful.

3. Myatonia Congenita [Thompsons]

caused by a defect localised to chromosome 7 region of human skeletal muscle chloride channel. Patients exhibit

widespread involvement with increased hypertrophy though little weakness. The symptoms improve with exercise.

CONGENITAL MYOPATHIES

These are non progressive disorders which cause floppy baby syndrome. Hypotonia in infants, usually affects the

pelvic and shoulder girdles. In such cases a Muscle Biopsy Hitochemical analysis is required to ascertain the specific

problem/cause.

ARTHROGRYPOTIC SYNDROMES


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There are four major forms.

1.Arthrogryposis Multiplex Congenita

[Amyoplasia] This is a non progressive disorder with multiple, congenitally rigid joints. It is caused by any of several

conditions which limit foetal movement and can be neuropathic, myopathic or mixed. It resembles polio in that

sensory function is maintained while motor function is lost.

Upper extremity involvement usually includes adduction and internal rotation of the humerus, wrist flexion and elbow

extension plus ulnar deviation. Treatment consists of passive stretching in the early stages with osteotomies, if

needed, after 4 years of age.

Lower extremity involvement often includes rigid club feet, knee contractures and hip dislocation. The spine in some

cases reveals C shaped scoliosis and fractures are common.

Treatment includes soft tissue releases, open reduction of hip dislocations, surgical treatment for club feet [after an

attempt at posteromedia release] plus an attempt at achieving ambulation.

2. Larsen Syndrome

This is similar to Arthrogryposis in clinical appearance but the joints are less rigid. It is characterised by multiple joint

dislocations, cervical kyphosis, flattened facies and scoliosis.

3. Multiple Pterygium Syndrome

This is an A.R. disorder characterised by scoliosis, cutaneous flexor surface webs, and congenital vertical talus.

4.Distal Arthrogryposis Syndrome

This is an A.D. disorder which, in most cases, affects the hands [presenting ulnarly deviated fingers, adducted

thumbs with web space thickening plus M.C.P. and P.I.P. flexion contractures] or the feet [with vertical talus and club

feet being common].

POLYMYOSITIS [Dermatomyositis]

This is a predominantly female disorder. It is a febrile illness and can be acute or insidious. Sufferers exhibit

photosensitivity plus increased C.P.K. and E.S.R. values. They present muscles which are tender, and indurated.

Biopsies reveal a pathognomonic inflammatory response.

MYASTHENIA GRAVIS

This is a rare, A.D. disorder in which, for reasons not known, the bodys immune system attacks and gradually

destroys the receptors in muscles that are responsible for picking up nerve impulses. The muscles, consequently

become weak and fine easily. The eyes, face, throat and limb muscles are most commonly affected. Sufferers usually

exhibit drooping eyelids, a blank facial expression plus weak, hesitant speech. It affects more women than men.

Treatment consists of anti-acetyl/cholinesterase agents Cyclosporin or a thymectomy, if the problem is caused by a

dysfunctioning thymus gland.

ANTERIOR HORN CELL DISORDERS

There are two specific forms.

Poliomyelitis


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A viral infection which, at its worst destroys the anterior hom cells in the spinal cord and brain stem motor nuclei,

causing paralysis. The disease can be mild, severely disabling, or fatal. It has almost completely disappeared from

the developed countries since vaccination began in the 1950s. A feature of polio is that normal sensation

accompanies the muscle weakness.

Spinal Muscle Atrophy

This is an A.R. disorder involving destruction of anterior hom cells from the spinal cord. It is more common in girls

than boys. There are two forms.

Werdbug - Hoffman form which is present at birth giving the sufferer a very limited life span.

Kugelberg - Wellander form which develops later in life and is not as severe.

Spinal Muscles Atrophy is characterised by progressive scoliosis.

Treatment is similar to Duchenne Muscular Dytrophy except that fusion may be needed earlier.

Patients exhibit symmetric paresis. The lower extremity and proximal muscles being the most commonly involved.

ACUTE IDIOPATHIC POSTINFECTIOUS POLYNEUROPATHY [Guillain Barr Syndrome]

This is a rare disease caused by demyelisation following a viral infection. Patients suffer symmetric ascending motor

paresis. C.S.F. protein is usually elevated. The disease is usually self-limited.

OVERGROWTH SYNDROMES

There are three major forms.

1. Hemihypertrophy

This disease is often associated with renal abnormalities [most often Wilms Tumour]. The most commonly known

cause is neurofibromatosis but it can be caused by any of several separate syndromes, most of them

idiopathic.Treatment of the symptomatic leg-length discrepancy is discussed within the Paediatric Spine DisordersSection.

2. Proteus Syndrome

This is a rare, bizarre disorder resulting in overgrowth of the hands and feet, genu valum, haemangioma, scoliosis,

complete facial disfigurement, lipomas and nevi.

3. Klippel- Trenaunay Syndrome

This disturbing disorder is associated with cutaneous haemangioma plus varicosities. The subsequent overgrowth is

caused by underlying A.V. malformations. If hypertrophy of the extremities is severe, amputation may be necessary.

PAEDIATRIC

SPINAL

DISORDERS

There are many variations. These have been divided and grouped into eight separate

categories as shown below:

IDIOPATHIC SCOLIOSIS

This manifests as a lateral deviation and rotation of the spine with no identifiable


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cause, but it is usually related to a brain stem, hormonal or proprioception disorder.

The adolescent form is most common but there is an Infantific form also a Juvenile

form. Right thoracic curves, with apex T7 or T8 are the most common, followed by

double major, left lumbar and right lumbar, in that order.

Severe curves [>90 degrees] accompanied by cardiopulmonary dysfunction result in

extreme pain and early death.

Afflicted children are first noticed because of a trunk shift, shoulder or pelvic

asymmetry, asymmetric umbilical reflex, spinal curvature, asymmetric rib hump

and/or limb length inequality.

Inclusion of the iliac crest on radiographs will reveal the degree of skeletal maturity. A

lateral radiograph to check for spondylolisthesis is also recommended. An M.R.I.

scan is needed if there is excessive Kyphosis, rapid progression, neurologic

symptoms, onset before 11 years, of left thoracic/thoracolumbar curves.

Treatment includes careful observation, some for bracing and if needed surgery.

Bracing does not rectify the problem but does halt rapid progression.

Surgical options include instrumentation without fusion for Infantile, also Juvenile

forms. There are several options for the Adolescent form but posterior fusion and

instrumentation with Harrington distraction rods are the most common. In all forms of

surgery for idiopathic scoliosis, great care must be taken to choose the most

appropriate/effective fusion level. It varies according to the age of the child, the

degree of the curve and also the degree of progression.

Surgical complications include pseudoarthrosis, implant failure [due to early hook cut

out and late rod breakage] also infection of the wound, and the appearance of a

neurologic deficit that was not apparent preoperatively.

Points To Note Re. Infantile Scoliosis:

male predominance

manifests between 2 months and 3 years

is accompanied by a flattening of the skull and other congenital defects

Points To Note Re. Juvenile Scoliosis

similar to adolescent scoliosis in terms of symptoms and treatment

manifests between 3 years and 10 years

curve progression is a high risk [70% require treatment, 50% require bracing


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and 50% require surgery.

fusion needs to be delayed until adolescence.

CONGENITAL SPINE DISORDERS

Congenital spinal disorders are due to a development defect in the mesenchymal

anlage during the 4th to 6th week of gestation.

Three basic defect types are noted:

failure of formation

segmentation

mixed

There are two separate disorders:

Congenital Kyphosis

in which a failure in formation

Type I gives the worst prognosis for progression and neurological involvement. It is

also the most likely to result in paraplegia and requires surgery. Posterior fusion is

the most effective in children under 5 years with curves less than 50 degrees.

Combined anterior/posterior fusion is more suitable for older children or those with

more severe curvature.

Type II. congenital kyphosis is not usually as serious as Type I.but posterior fusing is

needed if the curving is progressive.

Congenital Scoliosis

This is the most common congenital spinal disorder. The best prognosis is a block

vertebrae caused by a failure of segmentation. The worst prognosis presents a

unilateral unsegmented bar with a contralateral fully segmented hemivertebra, which

will require surgery [the deformities do not require surgery unless progression [which

isnt usual] becomes obvious].

Posterior fusion either with or without instrumentation is the most common treatment

for progressive curves. If the crankshaft phenomenon occurs however [due to

continued anterior spinal growth] the anterior/posterior fusion may be required.

NEUROFIBROMATOSIS

This is an A.D. disorder associated with neoplasia and skeletal abnormalities. It is of

neural crest origin and is characterised by numerous neurofibromas [soft fibrous

swellings that grow from a nerve] and cafe-au-lait spots. It is an uncommon, inherited

disease. It manifests in its most serious form bone abnormalities . The spine is the

most common site and may reveal vertebral scalloping, enlarged foramina, severe


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There are many disorders in this category including:

Klippel-Feil Syndrome

Atlantoaxial Instability

Os Odontoideum

Pseudosubluxation of the Cervical Spine

Intervertebral Disc Calcification Syndrome

Basilar Impression/Invagination

Information concerning each disorder is given, as listed, in the ensuing text.

1) Klippel-Feil Syndrome

This is often associated with renal disease, congenital scoliosis, Sprengels

deformity, brain stem abnormalities, synkenesis, congenital heart disease and/or

congenital cervical stenosis. It is characterised by multiple fused cervical segments

due to the segmentation failure of cervical somites within the first eight weeks of

gestation. In most cases the treatment is conservative but chronic pain may require

surgery. Afflicted children should avoid aggressive sports.

2) Atlantoaxial Instability

This is often associated with various osteochondrodystrophies, Down Syndrome,

osodontoidium or other disorders. Rotatory Atlantoaxial Subluxation. [which is often

caused by retropharyngeal inflammation] may manifest torticollis. If so this is best

treated with traction and bracing, early. Traumatic Atlantoaxial Subluxation may also

manifest torticollis which should be treated initially with a soft collar for up to a week.

If symptoms persist, cervical traction may be required followed by fusion for fixed

rotary subluxation.

3) Os Odontoideum

This appears like a type II odontoid fracture. It may represent the residuals of a

previous trauma but causes cant be verified. If radiographs reveal instability of more

than 3mm or neurologic symptoms present a posterior C1-C2 fusion is required.

4) Pseudosubluxation of the Cervical Spine

Similar symptoms to those involving pseudosubluxation are common in children over

8 because of the orientation of the facets. The more serious disorder can only be

firmly diagnosed if:

major trauma is evident

the subluxation with neck extension is reduced

pain is resolved easily

the posterior spinolaminar line and the interspinous distances are mal-

aligned


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there is anterior swelling.

5) Intervertebral Disc Calcification Syndrome

This disorder is characterised by an increase in E.S.R. reading, low grade fevers,

radiographic disc calcification without erosion, decreased R.O.M. and severe pain.

The C-spine is most comTmonly involved. It is a self-limiting disorder and treatment

is conservative.

6) Basilar Impression/Invagination

This disorder is a bony deformity at the base of the skull which is characterised by

paraesthesia [sometimes hydrocephalus] and weakness. It is caused by cephalad

migration of the odontoid into the foramen magnum. Operative treatment is

sometimes necessary and can include transoral resection of the dens, occipital

laminectomy, also occipitocervica fusion and wiring.

Other Spinal Abnormalities

These include:

Diastomatomyelia which is a longitudinal cleft in the spinal cord; either

cartilaginus, fibrous or osseous bar. It can lead to tethering of the spinal

cord with associated neurologic deficits. Sometimes it is necessary to resect

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