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