Children's Congenital and Neuromuscular Conditions

Question 1

What are some examples of congenital conditions?

Answer 1

Clubfoot (CTEV), rocker bottom feet (CTV), neurofibromatosis, skeletal dysplasia

Question 2

What are some examples of neuromuscular conditions?

Answer 2

Cerebral palsy, tip toe walking, Duchenne muscular dystrophy, high arch (cavus) foot

Question 3

What is the clinical name for clubfoot?

Answer 3

Congenital talipes equinovarus (CTEV)

Question 4

What is clubfoot?

Answer 4

Birth defect causing abnormal foot posture = majority idiopathic, associated with myelomeningocoele, diastrophic dwarfism and tibial hemimelia

Question 5

What are some features of clubfoot?

Answer 5

2:1 male to female ratio, half of cases are bilateral, causes cavus, adductus, varus and equinus

Question 6

What causes the postural talipes which occurs in clubfoot?

Answer 6

Ankle muscle tightness and the position of the baby in the womb

Question 7

How is clubfoot treated?

Answer 7

Ponesti method = child wears corrective cast to move foot into correct position, may also get Achilles tenotomy

Question 8

What is the clinical name for rocker bottom foot?

Answer 8

Congenital vertical talus (CTV)

Question 9

What are some features of rocker bottom foot?

Answer 9

Irreducible dislocation of talus on navicular, round plantar surface, equinus hindfoot

Question 10

What are some associations of rocker bottom foot?

Answer 10

Myelomeningocoele, arthrogryposis, spinal muscular atrophy, neurofibromatosis, trisomies

Question 11

What kind of ankle disorder are clubfoot and rocker bottom foot?

Answer 11

Fixed ankle equinus

Question 12

What is neurofibromatosis?

Answer 12

Congenital disorder affecting extremities, spine (scoliosis >10%) and skin (neurofibromas)

Question 13

What genes are involved in neurofibromatosis?

Answer 13

NF1 is most common = neurofibromin, chromosome 17

AD gene = Alzheimer’s disease

Question 14

What is needed to diagnose neurofibromatosis as per the NIH guidelines?

Answer 14

2 out of 7 of the following:
>6 café au lait spots
>= neurofibromas/plexiform neurofibromas
Freckling axilla/inguinal region
Optic glioma
Cortical thinning/pseudoarthrosis
Fist degree relative affected

Question 15

What are skeletal dysplasias?

Answer 15

Congenital disorders involving the bone and cartilage (436 disorders e.g achondroplasia)

Question 16

What are some features of skeletal dysplasia?

Answer 16

Shortening of bone, short stature (usually < 2SD), changes may be proportionate or disproportionate

Question 17

How are skeletal dysplasias characterised using the Wynne-Davies classification?

Answer 17

According to area of bone affected or pathology

Question 18

What receptor is involved in achondroplasia?

Answer 18

Fibroblast growth factor receptor 3 (FGFR3) = AD gene can be involved, 80% are spontaneous mutations

Question 19

What are some features of achondroplasia?

Answer 19

Normal trunk and short limbs, frontal bossing, genu varum, normal intelligence, motor delay

Question 20

What is cerebral palsy?

Answer 20

Non-progressive neuromuscular disorder = injury to immature brain (prematurity, perinatal infection/anoxic injuries/meningitis)

Question 21

What are the features of cerebral palsy?

Answer 21

UMN disease causing muscle weakness/spasticity
Early disease = abnormal muscle forces causing dynamic deformity
Late disease = contractures, fixed deformity, dislocation

Question 22

What are the different classifications of cerebral palsy?

Answer 22

Hemiplegia = regional involvement, pyramidal, spastic
Diplegia = regional involvement, spastic, pyramidal
Quadriplegia = global involvement, spastic, pyramidal
Athetoid = extrapyramidal, dyskinetic, global involvement
Dystonic = global involvement, dyskinetic, extrapyramidal
Ataxic = extrapyramidal, ataxia, global involvement

Question 23

What is the clasp knife reflex that occurs in cerebral palsy?

Answer 23

Golgi tendon reflex, rapid decrease in resistance when attempting to flex a joint

Question 24

What are the functional classifications of cerebral palsy?

Answer 24

Walking = GMFCS level I to III
Non-walking = GMFCS level IV to V

Question 25

What are some features of Duchenne muscular dystrophy?

Answer 25

Commonest muscular dystrophy, inherited disorder causing progressive muscle weakness, presents in children ages 2-5, muscle weakness (proximal>distal), clumsy walking, positive Gower's sign, scoliosis

Question 26

What causes Duchenne muscular dystrophy?

Answer 26

Absence of dystrophin protein causes muscle replacement with fibrofatty tissue = 1/3 cases are spontaneous, usually X-linked recessive inheritance in boys

Question 27

How is Duchenne muscular dystrophy diagnosed and treated?

Answer 27

``` Diagnosis = CPK, muscle biopsy (absence of dystrophin) Treatment = keep ambulatory, decrease contractures ```

Question 28

What is cavus foot?

Answer 28

Pes cavus = high arched foot | Elevated longitudinal arch and varus hindfoot

Question 29

What causes cavus foot?

Answer 29

Idiopathic or familial, most due to neurological disorder (polio, cerebral palsy, myelomeningocoele, SCI), Charcot Marie tooth (myelin protein 222)

Question 30

How is cavus foot assessed and managed?

Answer 30

``` Assessment = x-rays, coleman block test Management = conservative or surgery, soft tissue or bony (osteotomies) ```

Question 31

What does a high GMFCS classification of cerebral palsy increase the risk of?

Answer 31

Dislocation

Question 32

What are some features of spinal fusion surgery?

Answer 32

Given when Cobb angle > 45 degrees, T2 is fused to pelvis, major undertaking at tertiary spinal centre, usually given in early adolescents to protect respiratory function

Question 33

What does normal motion depend on?

Answer 33

Appropriate and adequate force acting via a rigid lever of appropriate length on a stable joint

Question 34

What provide the required force for motion during ambulation?

Answer 34

Muscles and ground reaction forces

Question 35

What provides the rigid lever arm for forces during ambulation?

Answer 35

The skeleton

Question 36

What are the priorities of normal gait?

Answer 36

Stability in stance, clearance in swing, pre-position of foot in terminal swing, adequate step length, conservation of energy

Question 37

What are some features of tip toe walking?

Answer 37

Usually occurs in children aged 3, causes may be CNS, PNS, muscular or idiopathic

Question 38

What are some features of growing pains?

Answer 38

Common, more common in females, usually bilateral, don't cause a limp

Question 39

What are some red flags for leg pain?

Answer 39

Asymmetry, good localisation, short history, persisting limp, not thriving, pain worsening

Question 40

What are some features of anterior knee pain?

Answer 40

More common in females, adolescents, localised patellar tenderness, usually during squats or going down stairs, check hips, investigate with radiographs, treat with physio