Children's Congenital and Neuromuscular Conditions Flashcards
What are some examples of congenital conditions?
Clubfoot (CTEV), rocker bottom feet (CTV), neurofibromatosis, skeletal dysplasia
What are some examples of neuromuscular conditions?
Cerebral palsy, tip toe walking, Duchenne muscular dystrophy, high arch (cavus) foot
What is the clinical name for clubfoot?
Congenital talipes equinovarus (CTEV)
What is clubfoot?
Birth defect causing abnormal foot posture = majority idiopathic, associated with myelomeningocoele, diastrophic dwarfism and tibial hemimelia
What are some features of clubfoot?
2:1 male to female ratio, half of cases are bilateral, causes cavus, adductus, varus and equinus
What causes the postural talipes which occurs in clubfoot?
Ankle muscle tightness and the position of the baby in the womb
How is clubfoot treated?
Ponesti method = child wears corrective cast to move foot into correct position, may also get Achilles tenotomy
What is the clinical name for rocker bottom foot?
Congenital vertical talus (CTV)
What are some features of rocker bottom foot?
Irreducible dislocation of talus on navicular, round plantar surface, equinus hindfoot
What are some associations of rocker bottom foot?
Myelomeningocoele, arthrogryposis, spinal muscular atrophy, neurofibromatosis, trisomies
What kind of ankle disorder are clubfoot and rocker bottom foot?
Fixed ankle equinus
What is neurofibromatosis?
Congenital disorder affecting extremities, spine (scoliosis >10%) and skin (neurofibromas)
What genes are involved in neurofibromatosis?
NF1 is most common = neurofibromin, chromosome 17
AD gene = Alzheimer’s disease
What is needed to diagnose neurofibromatosis as per the NIH guidelines?
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
What are skeletal dysplasias?
Congenital disorders involving the bone and cartilage (436 disorders e.g achondroplasia)
What are some features of skeletal dysplasia?
Shortening of bone, short stature (usually < 2SD), changes may be proportionate or disproportionate
How are skeletal dysplasias characterised using the Wynne-Davies classification?
According to area of bone affected or pathology
What receptor is involved in achondroplasia?
Fibroblast growth factor receptor 3 (FGFR3) = AD gene can be involved, 80% are spontaneous mutations
What are some features of achondroplasia?
Normal trunk and short limbs, frontal bossing, genu varum, normal intelligence, motor delay
What is cerebral palsy?
Non-progressive neuromuscular disorder = injury to immature brain (prematurity, perinatal infection/anoxic injuries/meningitis)
What are the features of cerebral palsy?
UMN disease causing muscle weakness/spasticity
Early disease = abnormal muscle forces causing dynamic deformity
Late disease = contractures, fixed deformity, dislocation
What are the different classifications of cerebral palsy?
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
What is the clasp knife reflex that occurs in cerebral palsy?
Golgi tendon reflex, rapid decrease in resistance when attempting to flex a joint
What are the functional classifications of cerebral palsy?
Walking = GMFCS level I to III Non-walking = GMFCS level IV to V
What are some features of Duchenne muscular dystrophy?
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
What causes Duchenne muscular dystrophy?
Absence of dystrophin protein causes muscle replacement with fibrofatty tissue = 1/3 cases are spontaneous, usually X-linked recessive inheritance in boys
How is Duchenne muscular dystrophy diagnosed and treated?
Diagnosis = CPK, muscle biopsy (absence of dystrophin) Treatment = keep ambulatory, decrease contractures
What is cavus foot?
Pes cavus = high arched foot
Elevated longitudinal arch and varus hindfoot
What causes cavus foot?
Idiopathic or familial, most due to neurological disorder (polio, cerebral palsy, myelomeningocoele, SCI), Charcot Marie tooth (myelin protein 222)
How is cavus foot assessed and managed?
Assessment = x-rays, coleman block test Management = conservative or surgery, soft tissue or bony (osteotomies)
What does a high GMFCS classification of cerebral palsy increase the risk of?
Dislocation
What are some features of spinal fusion surgery?
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
What does normal motion depend on?
Appropriate and adequate force acting via a rigid lever of appropriate length on a stable joint
What provide the required force for motion during ambulation?
Muscles and ground reaction forces
What provides the rigid lever arm for forces during ambulation?
The skeleton
What are the priorities of normal gait?
Stability in stance, clearance in swing, pre-position of foot in terminal swing, adequate step length, conservation of energy
What are some features of tip toe walking?
Usually occurs in children aged 3, causes may be CNS, PNS, muscular or idiopathic
What are some features of growing pains?
Common, more common in females, usually bilateral, don’t cause a limp
What are some red flags for leg pain?
Asymmetry, good localisation, short history, persisting limp, not thriving, pain worsening
What are some features of anterior knee pain?
More common in females, adolescents, localised patellar tenderness, usually during squats or going down stairs, check hips, investigate with radiographs, treat with physio
