Childhood pathologies Flashcards
Genu Varum - defintion
Bow legged (large gap between knees when feet are together)
Can genu varum be a normal finding?
Yes
Children less than 2
When to suspect that genu varum is abnormal
Severe (+/- 6 degrees from the mean value for that age)
Painful
Unilateral
Genu valgum - definition
Knocked knees
ankles are too Lateral
Can genu valgum be a normal finding?
Yes
Children around 3
When to suspect that genu valgum is abnormal?
Severe (+/- 6 degrees from the mean value for that age)
Painful
Intoeing - definition
When a child walks with the toes pointed inwards
AKA pigeon toe
Intoeing - clinical features
“child wears through shoes at an alarming rate”
Intoeing - causes
Internal tibial torsion
Femoral neck anteversion
Metatarsus adductus
Intoeing - management
Most resolve spontaneously
May need to put a plaster cast on
Flat feet - definition
It is normal to be born with flat feet but most people should develop a medial arch once at walking stage
Skeletal dysplasia - definition
Abnormal development of bone and connective tissue
Skeletal dysplasia - clinical features
Short stature Disproportionately short limbs Prominent forehead Widened nose Mental development normal
Generalised joint laxity
Hyper mobility of joints
“double jointed”
Marfans syndrome - definition
Mutation of fibrillin gene (gene which is required for the formation of elastin)
Marfans syndrome - clinical features
Hypermobility
Tall
Disproportionately long limbs and fingers
High arched palate
Duchene muscular dystrophy - definition
Defect in calcium transport so muscles don’t move as normal
Duchene muscular dystrophy - genetics
X-linked recessive
only affects males
Duchene muscular dystrophy - clinical features
Progressive muscle weakness
Heart failure
Respiratory failure
Duchene muscular dystrophy - investigations
Increased serum creatinine phosphokinase
Duchene muscular dystrophy - management
Physio
Splintage
Ehlers danlos syndrome - definition
Abnormal elastin and collagen formation
Ehlers danlos syndrome - genetics
autosomal dominant
Ehlers danlos syndrome - clinical features
very stretchy skin
Easy bruising
Joint hyper mobility
Dislocations
Ehlers danlos syndrome - management
Surgery
- but skin healing is poor after surgery
Upper motor neurone problems arise from
Brain
Spinal cord
Upper motor neurone problems result in
Weakness
Spasticity
Lower motor neurone problems arise from
Peripheral nerve
Nerve roots
Anterior horn
Lower motor neurone problems result in
Reduced tone
Weakness
Cerebral palsy - definition
insult to the immature brain either before, during or after birth
Spina bifida - definition
2 halves of the posterior vertebral arch fail to fuse
Spina bifida - mild form
Occulta
- high arched foot (pes cavus)
- clawing of toes
- tuft of hair in skin overlying defect
Spina bifida - severe form
Cystica
- excess CSF which raises ICP
Polio - definition
Viral infection which affects the motor anterior horn cells in the spinal cord or brainstem resulting in a LMN defecit
Polio - clinical features
flu like illness -> paralysis of muscles -> shortening of limbs
Syndactyly
2 digits fused together
Polydactyly
Extra digit is formed
Tarsal coalition
Fusion between 2 tarsal bones
Erbs palsy - definition
Injury to the upper nerve roots during delivery of baby resulting in loss of motor innervation, deltoid, supraspinatous, biceps and brachialis muscle
Erbs palsy - nerve roots affected
C5, C6
Erbs palsy - clinical features
Internally rotated humerus
Kerlumpke’s palsy - definition
Injury to the lower nerve roots during delivery of baby caused by forceful adduction resulting in paralysis of intrinsic hand muscles
Kerlumpke’s palsy - nerve roots affected
C8-T1
Kerlumpke’s palsy - clinical features
Fingers are flexed
Talipes equinovarus - definition
AKA club foot
Congenital deformity of the foot due to abnormal alignment in utero
Talipes equinovarus - clinical features
Varus alignment
Supination of forefoot
DDH - definition
Developmental dysplasia of the hip
Dislocation or subluxation of the femoral head which affects the subsequent development of the hip
DDH - who gets it
More common in girls
Immediately before or after birth
DDH - Which hip (left or right) is more commonly affected?
Left
DDH - risk factors
First born babies
FHx
Breech position in utero
DDH - clinical features/examination
Look: shortening, asymmetric skin creases
Feel: clink/clunk on specific manoeuvres (barlow test, ortolani test)
Move: affected hip abducts more
DDH - investigations
Ultrasound - detect dislocated or unstable hip
DDH - management
Pavlik harness - if diagnosed early enough
Open reduction - open hip and release soft tissues
Transient synovitis - definition
Inflammation of the synovium of the hip joint
Transient synovitis - who gets it
Age: 2-10
more common in boys
Transient synovitis - risk factors
Previous URTI
Transient synovitis - clinical features
Patient with a limp Reluctance to weight bear on affected side Hip pain Restricted range of motion No signs of infection
Transient synovitis - investigations
Must exclude other serious potential conditions
Bloods - CRP (should be normal)
US - effusion
Transient synovitis - management
NSAIDs and rest
Perthes - definition
Osteochondritis of the femoral head.
Femoral head looses its blood supply resulting in AVN with subsequent abnormal growth
Perthes - who gets it
Children aged 4-9
Boys more than girls
Children who are very active
Children with short stature
Perthes - clinical features
Pain
Loss of internal rotation of the hip
Loss of abduction
Perthes - investigations
+ve Trendelenburg test
X-ray
Perthes - management
Avoid physical activity
SUFE - definition
Slipped Upper Femoral Epiphysis
Femoral head epiphysis slips inferiorly in relation to the femoral neck
Growth plate is not strong enough to support body weight
SUFE - who gets it
age 10-16 (adolescents going through puberty)
more common in boys
Obesity
SUFE - clinical features
Pain in the knee (due to the obturator nerve)
Pain in the groin area
Can’t weight bear
Loss of internal rotation of the hip
SUFE - investigations
X-ray (lateral x-ray)
SUFE - management
Urgent surgery to pin the femoral head to prevent further slippage
SUFE - complications
Avascular necrosis
Skeletal dysplasia - genetics
Achondroplasia
Generalised joint laxity - genetics
Autosomal dominant
Cerebral palsy - causes
Intrauterine infection Genetic problems Brain malformation Prematurity Intra-cranial haemorrhage Hypoxia during birth
Cerebral palsy - monoplegic
One limb affected
Cerebral palsy - hemiplegic
One ipsilateral upper and lower limb affected
Cerebral palsy - diplegic
Both legs affected
Cerebral palsy - clinical features
Delayed developmental milestones
Scolisosis
Hip dislocations
Cerebral palsy - management
Physio Splintage Balcofen Botox injection to spastic muscles Surgery
Cerebral palsy - spastic
Most common
Injurry to motor cortex, UMN or corticospinal tract
Cerebral palsy - ataxic
Affects cerebellum so coordination and balance are affected
Duchene muscular dystrophy - what sign is common in patients
Gower’s sign (patient walks hands up their body)
