1- paed conditions (congenital & neuromuscular) Flashcards
what is a congenital disorder?
structural or functional anomalies that occur intrauterine life
what is cerebral palsy?
- non progressive brain injury acquired antenatal, perinatal or early postnatal period
- very multifactorial disorder
- variable severity
- disorder of development of movement and posture
- sensory, perception, cognition, communication, behaviour & MSK problems
what is
a) monoplegia
b) hemiplegia
c) diplegia
d) triplegia
e) quadriplegia
in CP?
a) 1 limb affected (usually lower)
b) 1 side of body (usually upper more affected than lower)
c) all limbs affected but lower limbs more affected
d) 3 limbs affected, 1 side worse
e) all limbs affected
what are common MSK problems for CP?
hip dislocation & scoliosis
what are levels of CP?
level 1- 5
level 1 = problems walking
level 5 = completely wheelchair bound
what is HSMN?
= hereditary sensory motor neuropathy
- it’s just a big chunky curvy foot that you get genertically (like charcot foot)
- autosomal dominant hereditary disorder, it’s progressive and both sensory & motor affected (weak & numb)
what is spina bifida?
- most common neural tube defect meaning gap in spine
(failure of neural tube to close in 4th week embryogenesis) - different severities in outpouching = can be just spinal fluid, or spinal cord or nerve tissue
what are some causes of spina bifida?
- folate deficiency
- drug misuse
- maternal infection
- genetics
what are some additional congenital problems are common in kids with spina bifida?
- kyphosis
- hemivertebrae (abnormal shape vertebra)
- clubfoot (foot twist in & down)
- vertical talus (rockerbottom feet, wrong shaped talus)
- hip dysplasias
- knee deformities - tibial torsion
= these mostly occur due to muscle weakness & imbalance in spina bifida
what are some acquired symptoms that are experienced in spina bifida?
- muscle imbalance
- paralysis
- reduced sensation in lower extremities
= lack of mobility can cause disuse osteopenia (decrease bone density). specific prognosis depends on spinal segment level (L3 & above wheelchair)
what are function classification for spina bifida? (think of dermatomes)
- L2 – non ambulatory
- L3 – household ambulator (hip flexion/adduct)
- L4 – household ambulator (knee extension/ankle dorsiflexion/inversion)
- L5 – community ambulator (toe dorsiflexion/hip extension/hip abduction)
- S1-4 – normal ambulators
what is management of spina bifida?
can use orthoses (like a frame) to maintain alignment, prevent deformity and correct flexible deformity
what is cause of scoliosis?
mostly idiopathic but can be muscular
is tip toe walking walking in toddlers a big worry?
no, quite common and usually resolved but should note as can be cerebral palsy or muscle dystrophy
what is clubfoot?
when foot like very turned inwards, usually passively correctable at very young age. usually picked up on antenatal scan (it’s due to muscle contraction)
what is management of club foot?
special casts for 3 months (usually in 1st couple weeks of life) then boots & bars 23 hrs a day for 3 months then at night until age 4
what are rockerbottom feet?
outward turned feet, congenital. causes rigid flat foot deformity. associated with neuromuscular & congenital
- because of vertical talus
what are red flags of growing pains?
- asymmetry
- good localisation
- short history
- persisting limp
- not thriving
- pain worsening
what is osteochondritis dessicans?
- Cartilage bone lesion (often in the knee, but can affect other joints including elbow and ankle)
- unclear cause (atraumtic)
- presents as activity related pain with stiffness & swelling
- goes away by itself
what is achondroplasia? what is hypochondroplasia?
genetic condition affecting FGFR3 gene which reduces longitudinal growth. spontaneous autosomal dominant
- hypochondroplasia is same condition but less severely affected
what is presentation of achondroplasia?
- short stature
- champagne glass pelvis (pelvis inlet smaller, champagne glass shaped)
- foramen magnum stenosis (narrowing of space for spinal cord in skull - neurological issues)
- adenotonsillar hypertrophy (enlarged tonsils)
- frontal bossing (forehead more prominent)
- trident hands (fingers short and 3rd&4th split apart more)
- brachydactyly (fingers & toes shorter in proportion to other body parts)
- macrocephaly (big head)
what is marfans? typical presentation?
= autosomal dominant collagen gene mutation
presents →very tall, thin, long limbs, joint laxity, long spidery fingers, high arched palate, pectus excavatum, dilated aortic root, dural ectasia, hernia, ectopia lentis, retinal detachment, cardiac valve problems
what is ehlers danlos? typical presentation?
= autosomal dominant change to elastin & collagen formation
presents →hypermobility, joint pain, easy bruising, dizzy, digestive problems, stretchy skin, fragile vessels
what is osteogenesis imperfecta? presentation?
- type I collagen abnormality
presents = blue sclera, bowed bones, hypermobile, teeth abnormalities, hearing problems, short
