History - sections Flashcards
How do you define Cerebral Palsy?
A group of non-progressive movement disorders affecting movement and posture, resulting from cortical disturbance in the developing fetal or infant brain. These cortical insults may be due to a variety of causes
Important – the lesion is non-progressive. But the motor problems can be progressive, because problems can exacerbate as they grow older, even though the lesion isn’t growing.
What are possible causes of Cerebral Palsy?
Fetal:
- Hypoxic ischaemic injury
- Intraventricular / Germinal matrix haemorrhage (especially in preterm infants)
- Congenital infections
- Prematurity
Neonatal:
- Hyperbilirubinemia / Kernicterus
- Sepsis / Fever / Infections (meningitis / encephalitis)
- Head trauma
How would you classify the different types of CP?
(1) By type of motor impairment
- Spastic: Most common (70%), rigidity, UMN picture.
- Ataxic: Least frequent, due to cerebellar lesions, usually presents with intention tremor
- Dyskinetic (atheroid or dystonic): Damage to basal ganglia, usually due to bilirubin encephalopathy/HIE.
- Dystonic: slow, strong contractions with abnormal posturing. Involuntary movements
(2) By distribution
- Hemiplegic
- Diplegic (both legs > arms)
- Quadraplegic
How would you support a patient and family with CP?
Speech and language therapy - helping with swallowing.
Feeding - might need a gastrostomy tube.
Education - they can have cognitive difficulties
PT and OT - splints and walking aids.
Orthopaedics - they get scoliosis and hip dislocation
Neuro - ↑ risk of epilepsy
Urology - ↑ risk of UTI and incontinence
Resp - ↑ respiratory infections so they get lots of rescue packs
What is DDH?
Congenital instability of the hip joint resulting in frequent dislocations. You can pick it up with screening tests in newborns (Barlow and Ortolani), or in walking kids as a painless limp.
DDH - treatment?
Treatment - you give them a Pavlik Harness. Or alternatively you can surgery them within 18 months of birth.
How does DMD typically present?
- Usually diagnosed 4-5 years of age.
- Gross motor delay with ‘clumsiness’, waddling gait, proximal myopathy
- Reduced or absent reflexes, although ankle jerk often preserved
- Gower’s sign = walking up legs (proximal myopathy)
- Calf pseudohypertrophy - muscle replaced by fat and fibrous tissue
What investigations would you do in suspected DMD?
- ↑ Creatinine Kinase
- Genetic studies
- EMG (myopathy pattern)
- Muscle biopsy (absent dystrophin on immunohistochemistry). But it’s distressing, so avoid it if there’s a positive genetic result.
What’s the genetic/pathophysiology stuff in Duchenne Muscular Dystrophy?
- X-linked recessive, 1/4000 male infants.
- 1/3 of cases are new mutations
- Xp21 = dystrophin. Dystrophin maintains integrity of muscle cell wall.
- Absence of dystrophin leads to progressive muscle cell damage.
What is Becker’s Muscular Dystrophy?
Similar to DMD but milder.
The signs and symptoms of Becker muscular dystrophy are usually milder and more varied. In most cases, muscle weakness becomes apparent later in childhood or in adolescence and worsens at a much slower rate
DMD kills you in your 20s, Becker kills you in your 40s.
What brain tumours can cause gait problems in kids?
What brain tumours can cause gait problems in kids?
When would bruising in a child be a cause for concern from a safeguarding POV?
Dodgy patterns, child too young to be mobile, incidental presentation of bruising (kid comes in for something else and you happen to notice it), kid presenting late for another condition esp in A and E (avoid regular contact with the same doctor), other stigmata of NAI, child too friendly to you/weird around parents.
What is the most common cause of acute hip pain in children?
Transient synovitis – child afebrile, decreased RoM, particularly internal rotation, pain possibly referred to knee, onset post some other mild infection eg. sore throat
What is the most common cause of acute hip pain in children?
Transient synovitis – child afebrile, decreased RoM, particularly internal rotation, pain possibly referred to knee, onset post some other mild infection eg. sore throat
What condition may develop post transient synovitis in a small proportion of children?
Perthes disease
What condition may develop post transient synovitis in a small proportion of children?
Perthes disease
What is Perthes disease
avascular necrosis of capital femoral epiphysis of femoral head. Mainly affects 5-10yo males. Can be bilateral in some. Acute presentation has a painful limp- in chronic Perthes is often a painless limp.
What investigations may be requested in suspected Perthes disease?
- Frog view X-rays should be requested. Increased density in femoral head, subsequent fragmentation and irregularity.
- MRI or bone scan
What is the treatment of Perthes disease?
Rest, physio, some may require traction.
Prognosis good, particularly for those 6yo and under with less
than half of the epiphysis involved.
Worst outcome is hip arthroplasty.
In obese 15 year old males with only a minor trigger, what limp cause is most likely?
SUFE – slipped capital femoral epiphysis
What is SUFE – slipped capital femoral epiphysis
Association with metabolic endocrine abnormalities
eg. hypothyroidism and hypogonadism
Hip pain may be referred to the knee
Restricted abduction and internal hip rotation
How best is SUFE managed?
Surgical Mx – pin fixation in situ, prevent femoral head displacement postero-inferiorly
Fix other side as well as high chance of bilateral slip
Prompt Tx required to prevent avascular necrosis
What top differential diagnoses are possible in a child presenting with a painful, swollen, hot and erythematous joint?
- Reactive arthritis
- Juvenile idiopathic arthritis
- Septic arthritis
What is Reactive arthritis
Most common form of childhood arthritis, transient joint swelling often of ankles/knees, usually follows extra-articular infection eg. Psoriasis, Viral, Salmonella, gonococcus, Lyme disease. Low grade fever. No Tx or NSAIDs. Good prognosis.
What is Juvenile Idiopathic Arthritis
Most common chronic inflammatory joint disease in children/adolescents. Many subtypes, can be further classified according to Rheum factor and HLA B27 tissue type.
Morning joint pain, intermittent limp, reports avoidance of previous activity rather than lots of pain.
What is Juvenile Idiopathic Arthritis
Most common chronic inflammatory joint disease in children/adolescents. Many subtypes, can be further classified according to Rheum factor and HLA B27 tissue type.
Morning joint pain, intermittent limp, reports avoidance of previous activity rather than lots of pain.
What is Septic arthritis
Most common in children under 2yo. Often from haematogenous spread or from osteomyelitis. Single joint affected, hip of particular concern. Post neonatal period most commonly Staph A or H infuenzae. May have underlying immunodeficiency or Sickle Cell. Joint effusion may be detectable. Difficult to diagnose in toddlers as joint well covered by subcut fat.
FBC, cultures, joint aspiration, X-ray to exclude bony injury
What underlying disease must be considered in a patient with Juvenile Idiopathic Arthritis in many joints with systemic involvement?
Connective Tissue Disease – E-D or Marfan’s
If JIA is not treated adequately, what long term complications could develop?
- Uncontrolled disease activity, bone expansion from overgrowth, may cause leg lengthening or valgus deformity due to knee effects, wrist deformity, advancement of bone age
- Chronic anterior uveitis, flexion contracture of joints, growth failure
Which cause of limp/joint pain is particularly important to diagnose asap in children?
Septic Arthritis.
S Aureus (the most likely causative organism) - rapidly and irreparably destroy joint cartilage.
How is septic arthritis managed?
Aspirate/swab and culture
Blood cultures
IV antibiotics
Joint washout
What could be used to differentiate between Transient Synovitis and Septic Arthritis?
Aspirate joint + culture
Kocher’s criteria - point given for each of the four following criteria:
Non-weight-bearing on affected side
Erythrocyte sedimentation rate > 40
Fever > 38.5 °C
White blood cell count > 12,000
4 is most severe → 99% likelihood of septic A.
What investigations are appropriate in a child with limp/joint pain?
FBC / ESR / CRP
Blood Cultures
X-rays
MRI/bone scan may be necessary
Aspiration and culture of joint effusions
What subtle sign may be seen on tibial x-ray indicative of Toddler’s Fracture?
Toddler fractures =minimally/undisplaced spiral fractures
Usually of the tibia
Potentially difficult diagnosis to establish on account of both the symptoms and imaging findings being subtle eg. periosteal reaction
How is DDH managed?
May self resolve
Pavlik harness used for fixation
Surgical measures appropriate if harnessing is unsuccessful
How would you manage transient synovitis?
Ibuprofen
Massaging affected leg and applying heat packs
2 weeks to spontaneously recover
Don’t exercise aggressively during these 2 weeks
Naevus simplex/stork mark
Common - 40% newborns
Flat, pink macules often in midline face or posterior neck, prominent with crying
Usually fade within 2 years
Caused by abnormal capillary dilation
Naevus flammeus/port wine stain
Macular lesion with midline cut-off
Grows during childhood and doesn’t regress
If in v1 distribution- ?Sturge Weber
Cavernous haemangioma (strawberry mark)
Appears within weeks of birth- rapid proliferation in first 6-12 months before stabilisation and involution in next 10 years (involution = shrinkage of an organ due to old age)
Treated if ulcerated, periocular, airway obstruction etc- oral propranolol – vasoconstriction reduces the mark.
Erythema toxicum
Common rash appearing day 2-3 after birth
White vesicles at centre of erythematous base
Baby otherwise well
Reassurance
