Congenital and neuromuscular conditions Flashcards
(27 cards)
What are the common congenital conditions in paeds ortho?
Clubfoot (CTEV)
Rocker bottom foot (CVT)
Neurofibromatosis
Skeletal dysplasia
What are the features of clubfoot?
Cavus - high arch
Adductus - whole forefoot is turned inwards
Varus - heel turned inwards
Equinus - fixed pointy foot
What serious pathologies are associated with clubfoot?
Myelomenigocele
Diastrophic dwarphism
Tibial hemimelia
BASICALLY - if you see a clubfoot always check for something more sinister
How can you differentiate between clubfoot and postural talipes?
Dorsiflexion of the foot to check if the deformity is fixed
How is clubfoot treated?
Ponseti method - serial casts
What is rocker bottom feet?
Irreducible dislocation of talus on navicular - round plantar surface and equinus hindfoot
What is neurofibromatosis?
A congenital disorder affecting the extremities, spine (scoliosis) and skin (neruofibromas)
What gene is affected in NF?
NF1 gene (neurofibromin) Chromosome 17
What is in the critera for diagnosis of neurofibromatosis?
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
What is skeletal dysplasia?
Congenital disorders involving bone and cartilage
What are the features of skeletal dysplasia?
Shortening of involved bone
Short staure which can be proportinate or disproportionate
How can skeletal dysplasia be classified?
Area of bone affected: epiphyseal, metaphyseal or diaphyseal
According to pathophysiology: bone density, storage diseases, fibrous disorders
What causes achondroplasia?
Fibroblast growth factor receptor 3 - FGR3
Autosomal dominant but 80% are spontaneous mutation
What are the features of achondroplasia?
Normal trunk/ short limbs Frontal bossing Genu varum Normal intelligence Motor delay
What is cerebal palsy?
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)
What are the features of cerebal palsy?
UMN disease - muscle weakness/ spasticity
Early: abnormal muscle forces
Late: contractures/ fixed deformity/ dislocation
What are the different types of cerebal palsy?
Pyrimidial - spastic
Extrapyrimidial - dyskinetic or ataxic
What treatments can be done to treat muscle spasticity in CP?
Benzodiazepines/ baclofen
Selective doral rhizotomy
Botox
How is duchenne muscular dystrophy inherited?
X-linked recessive but 1/3rd are spontaneous
What is the pathophysiology of duchenne muscular dystrophy?
Absence of dystrophin protein causes replacement of muscle with fibrofatty tissue
What are the features of duchenne muscular dystrophy?
Muscle weakness
Clumsy walking
Positive gowers sign
Scoliosis
How is duchenne muscular dystorphy diagnosed?
Creatine phosphokinase CPK
Muscle biopsy to show absence of dystrophin
What is cavus feet?
Elelvated longitudinal arch and varus hindfoot
What causes cavus feet?
Idiopathic/ familial
2/3 due to neurological disorder: polio, CP, myelomeningocele, SCI
Charcot marie tooth (myelin protein 222)
