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MSK > Congenital and neuromuscular conditions > Flashcards

Congenital and neuromuscular conditions Flashcards

1
Q

What are the common congenital conditions in paeds ortho?

A

Clubfoot (CTEV)
Rocker bottom foot (CVT)
Neurofibromatosis
Skeletal dysplasia

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2
Q

What are the features of clubfoot?

A

Cavus - high arch
Adductus - whole forefoot is turned inwards
Varus - heel turned inwards
Equinus - fixed pointy foot

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3
Q

What serious pathologies are associated with clubfoot?

A

Myelomenigocele
Diastrophic dwarphism
Tibial hemimelia
BASICALLY - if you see a clubfoot always check for something more sinister

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4
Q

How can you differentiate between clubfoot and postural talipes?

A

Dorsiflexion of the foot to check if the deformity is fixed

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5
Q

How is clubfoot treated?

A

Ponseti method - serial casts

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6
Q

What is rocker bottom feet?

A

Irreducible dislocation of talus on navicular - round plantar surface and equinus hindfoot

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7
Q

What is neurofibromatosis?

A

A congenital disorder affecting the extremities, spine (scoliosis) and skin (neruofibromas)

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8
Q

What gene is affected in NF?

A 
NF1 gene (neurofibromin) 
Chromosome 17
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9
Q

What is in the critera for diagnosis of neurofibromatosis?

A 
Over 6 cafe au lait spots
More than 2 neurofibromas or a plexiform neurofibroma
Freckling axilla or inguinal region 
Optic glioma
More than 2 lisch nodules
Cortical thinning
First degree relative affected
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10
Q

What is skeletal dysplasia?

A

Congenital disorders involving bone and cartilage

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11
Q

What are the features of skeletal dysplasia?

A

Shortening of involved bone

Short staure which can be proportinate or disproportionate

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12
Q

How can skeletal dysplasia be classified?

A

Area of bone affected: epiphyseal, metaphyseal or diaphyseal
According to pathophysiology: bone density, storage diseases, fibrous disorders

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13
Q

What causes achondroplasia?

A

Fibroblast growth factor receptor 3 - FGR3

Autosomal dominant but 80% are spontaneous mutation

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14
Q

What are the features of achondroplasia?

A 
Normal trunk/ short limbs
Frontal bossing 
Genu varum
Normal intelligence
Motor delay
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15
Q

What is cerebal palsy?

A

Non-progressive neuromuscular disorder caused by injury to the immature brain before 2 years old
This can be due to prematurity or can be perinatal (infection/ anoxic injuries/ meningitis)

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16
Q

What are the features of cerebal palsy?

A

UMN disease - muscle weakness/ spasticity
Early: abnormal muscle forces
Late: contractures/ fixed deformity/ dislocation

17
Q

What are the different types of cerebal palsy?

A

Pyrimidial - spastic

Extrapyrimidial - dyskinetic or ataxic

18
Q

What treatments can be done to treat muscle spasticity in CP?

A

Benzodiazepines/ baclofen
Selective doral rhizotomy
Botox

19
Q

How is duchenne muscular dystrophy inherited?

A

X-linked recessive but 1/3rd are spontaneous

20
Q

What is the pathophysiology of duchenne muscular dystrophy?

A

Absence of dystrophin protein causes replacement of muscle with fibrofatty tissue

21
Q

What are the features of duchenne muscular dystrophy?

A

Muscle weakness
Clumsy walking
Positive gowers sign
Scoliosis

22
Q

How is duchenne muscular dystorphy diagnosed?

A

Creatine phosphokinase CPK

Muscle biopsy to show absence of dystrophin

23
Q

What is cavus feet?

A

Elelvated longitudinal arch and varus hindfoot

24
Q

What causes cavus feet?

A

Idiopathic/ familial
2/3 due to neurological disorder: polio, CP, myelomeningocele, SCI
Charcot marie tooth (myelin protein 222)

25
Q

How are cavus feet assessed?

A

X-rays

Coleman block test

26
Q

How is the treatment for cavus feet determined?

A

Whether the deformity is flexible or not

27
Q

What are the different management strategies for cavus feet?

A

Flexible deformity - soft tissue manipulation

Fixed deformity - osteotomie

MSK (34 decks)

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