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Paediatric MSK Conditions Flashcards

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1
Q

What are normal ‘perks’ seen in MSK paediatrics?

A

Curly Toes
Flat Feet
In-toeing
Genu Valgum

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2
Q

What is Osteogenesis Imperfecta?

A

Osteogenesis imperfecta is a defect of the maturation and organization of Type 1 Collagen (which accounts for most of the organic composition of bone).

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3
Q

What is the classic presentation of Osteogenesis Imperfecta?

A

Multiple Fragility Fractures of Childhood
Short stature with Multiple Deformities
Blue Sclerae
Loss of Hearing.

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4
Q

What is Skeletal Dysplasia?

A

Skeletal dysplasia is the medical term for short stature and is due to genetic error (hereditary or sporadic mutation) resulting in abnormal, congenital development of bone and connective tissue (cartilage).

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5
Q

What are the 2 main descriptive terms for Skeletal Dysplasia?

A

Proportionate meaning the limbs and spine proportionally short

Disproportionate, where the limbs are proportionally shorter or longer than spine

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6
Q

What is the commonest skeletal dysplasia?

A

Achondroplasia

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7
Q

How does Achondroplasia present?

A

Achondroplasia results in disproportionately short limbs with a prominent forehead (Frontal Bossing) and widened nose. Joints are lax, genu varum, normal intelligence and mental development is normal.

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8
Q

What is Marfan’s Syndrome?

A

Autosomal Dominant or Sporadic Mutation of the Fibrillin Gene resulting in Tall Stature with Disproportionately Long Limbs and Ligamentous Laxity.

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9
Q

What are associated symptoms of Marfan’s?

A

High Arched Palate
Scoliosis
Flattening of the Chest (Pectus Excavatum)
Eye Problems (Lens Dislocation, Retinal Detachment)
AAA and Cardiac Valve Incompetence.
Cardiac Abnormalities may result in premature death.

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10
Q

What is Ehlers-Dahlos Syndrome?

A

Heterogeneous condition which is often autosomal dominantly inherited with abnormal elastin and collagen formation.

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11
Q

What are clinical features of Ehlers-Dahlos Syndrome?

A

Profound Joint Hypermobility/Instability
Vascular Fragility with Ease of Bruising
Scoliosis

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12
Q

What are MSK manifestations of Down’s Syndrome?

A

Short stature

Joint laxity with possible recurrent dislocation (especially patella) which may require stabilization

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13
Q

What are muscular dystrophies?

A

Rare and usually X‐linked recessive hereditary disorders (thereforeonlyaffecting boys) resulting in progressive muscle weakness and wasting.

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14
Q

What is the most common muscular dystrophy?

A

Duchenne Muscular Dystrophy

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15
Q

How is Duchenne’s inherited?

A

X-Linked Disease and therefore, is usually passed down from mothers to their sons - the mothers being carriers and the sons being affected by the disease.

However, 1/3 of Duchenne Muscular Dystrophy cases are a result of Spontaneous Mutation.

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16
Q

How does Duchenne’s arise?

A

Defect in the Dystrophin Gene involved in Calcium Transport results in Muscle Weakness which may only be noticed when the boy starts to walk with difficulty standing (see Gower’s sign below) and going up stairs.

The defect may even lead to Absence of the Dystrophin Gene.

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17
Q

What is the life cycle of Duchenne’s?

A

Initially presents itself between the ages of 2-5 years old.

Progressive muscle weakness then follows and by the age of 10 or so he can no longer walk and by age 20 progressive cardiac and respiratory failure develop with death typically in the early 20s.

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18
Q

What are clinical features of Duchenne’s?

A

Muscle Weakness starting proximally and moving distally e.g. Thighs first then the leg muscles and feet
Clumsy walking
Positive Gower’s Sign
Scoliosis

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19
Q

What are investigations for Duchenne’s?

A

Diagnosis is confirmed by Raised Serum Creatinine Phosphokinase and Abnormalities on Muscle Biopsy (e.g. Absent Dystrophin).

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20
Q

What is treatment for Duchenne’s?

A

No cure :(

Treatment is easing of symptoms

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21
Q

What is Cerebral Palsy

A

Non-progressive, neuromuscular disorder with onset before 2‐3 years of age due to an insult to the immature brain before, during or after birth.

It can almost be thought of as a Stroke prior to Development.

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22
Q

List causes of Cerebral Palsy?

A

Genetic Problems
Brain Malformation
Intrauterine Infection in Early Pregnancy
Prematurity (<30 weeks in the womb is usually the high risk level of prematurity)
Intra‐Cranial Haemorrhage
Hypoxia during Birth (Anoxic Injury)
Meningitis.

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23
Q

What are features of cerebral palsy?

A 
Muscle Weakness 
Muscle Spasming (Clasp-Knife Sign)
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24
Q

List categorisations of cerebral palsy?

A

Hemiplegia (same side limbs affected)
Paraplegic (legs only)
Diplegia (legs affected with little involvement elsewhere)
Quadraplegia (arms and legs affected)

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25
How can cerebral palsy deformity be managed?
In Early Disease, Deformities can be Passively Corrected. In Late Disease, Deformities CANNOT be corrected.
26
What are meds given in cerebral palsy?
Benzodiazepines and Baclofen (GABBA Agonist) Botulinum Toxin, which is a Neurotoxic Protein that prevents the Firing of Acetylcholine at the Neuromuscular Junction Selective Dorsal Rhizotomy (SDR) which is when Over-Firing Nerves are identified and cut from the back Botox Injections in Muscles to paralyse muscles working too vigorously
27
What is the commonest obstetric brachial plexus palsy?
Erb’s Palsy with Injury to the Upper (C5 & C6) Nerve Roots
28
What does Injury to the Upper (C5 & C6) Nerve Roots cause?
Loss of Motor Innervation of the Deltoid, Supraspinatus, Infraspinatus, Biceps and Brachialis Muscles.
29
What is treatment of Erb's Palsy?
Physiotherapy Surgical Release of Contractures Prognosis is predicted by the return of biceps function by 6 months with good outcome in 80‐90% of cases
30
What is Klumpke's Palsy?
Lower Brachial Plexus Injury (C8 & T1 roots) caused by Forceful Adduction Results in Paralysis of the Intrinsic Hand Muscles +/‐ Finger and Wrist Flexors and possible Horner’s Syndrome (due to disruption of the first sympathetic ganglion from T1).
31
What is DDH?
Dislocation or Subluxation of the Femoral Head (due to dysplasia as a result of capsular laxity and mechanical factors) during the Perinatal Period which affects the Subsequent Development of the hip joint.
32
How does DDH occur?
The Initial Stability can lead to dysplasia, which in turn leads to gradual dislocation. In a Normal Developing Hip, the correctly positioned femoral head stimulates normal femoral head and acetabulum growth. IN DDH, THIS IS ABSENT AND THE FEMORAL HEAD BECOMES DISLOCATED/SUBLAXED.
33
When does DDH present?
Its main onset is Birth (usually after the 24-48 hour Birth Health Check) and up to 2 years old (a toddler walking funny). Patients presenting in their 20s with mild dysplasia or 60s with severe, arthritic hips.
34
What are signs of DDH?
Shortened Limbs Asymmetric Groin Thigh Skin Creases Click on Abduction and Anterior Displacement in the Ortolani's Test (checking for posterior dislocation of the femur head of hip joint) Clunk on Flexion and Posterior Displacement in Barlow manoeuvres (checking for anterior dislocation) Trendelenburg Gait Positive (shorter lever arms to the femoral heads so the body has to work harder to have the same walking effect; Door Handle Theory) Limping
35
What investigations are done for DDH?
X-Ray ONLY IN LATE PRESENTATION - Femoral Epiphyses in upper quadrant - Discontinuous Shenton's Line USS is used for control and monitoring disease.
36
What is treatment for DDH?
Pavlike Harness 23hrs/day for 12 weeks, for dislocated/persistently unstable hips Open/closed reduction for persistent dislocation
37
What is Transient Synovitis?
Self‐limiting inflammation of the synovium of a joint, most commonly the hip.
38
Transient Synovitis commonly affects girls more than boys. True/false?
False | Boys are more affected
39
List clinical features of Transient Synovitis
Limp or Reluctance to Weight Bear on the affected side. Range of motion may be restricted (but not as much pain or loss of motion as septic arthritis). Possible low grade fever but is not systemically unwell or septic. Possible referred pain to the Knee (Rare) due to irritation of the Obturator Nerve. Pain at End Range of Hip Movements
40
What is the diagnostic criteria for Transient Synovitis?
Kocher's Criteria | Distinguishes between Reactive (Transient) and Septic Synovitis
41
What imaging is used in Transient Synovitis?
X-Ray to exclude Perthes. USS MRI to exclude Osteomyelitis
42
What is treatment of Transient Synovitis?
Short course of NSAIDs | Rest
43
What is Septic Arthritis?
intra-articular infection, causing pus abscess, which is a MEDICAL EMERGENCY. Bacteria can potentially cause sepsis, joint destruction and osteonecrosis
44
List causes of Septic Arthritis
Direct Inoculation from Trauma/Surgery Haematogenous Seeding Extension of Osteomyelitis from an Adjacent Bone Potential Development from Contiguous Spread of Osteomyelitis
45
What is the clinical presentation of Septic Arthritis?
``` Short Duration/Onset of Symptoms i.e. The patient will wake up that same morning with pain and will refuse to put their feet down on the floor (Unable to Bear Weight) High Temperature (Pyrexia) Severe Hip Pain on Passive Movement (even a little wiggle of the leg will make the patient scream with pain) ``` NOTE THAT CHILDREN ARE EXTREMELY GOOD AT COMPENSATING; WHILE THEY MAY HAVE FEVER, THEY MAY BE HAEMODYNAMICALLY STABLE I.E. NORMAL BLOOD PRESSURE AND HEART RATE
46
What are causative micro-organisms of Septic Arthritis?
Strep. Staph. Aureus H. Influenza Neisseria Gonorrhoea in teens
47
List investigations for Septic Arthritis
- Blood Tests (looking for Raised CRP, ESR, PV as well as a FBC) Blood Cultures for the Causative Micro-Organism Radiographs to rule out other pathologies USS with/without Aspiration, usually in Theatre (depending if fluid is found)
48
What is treatment of Septic Arthritis?
Surgical Drainage of Pus | Long course of Antibiotics
49
What is SUFE?
SUFE is a condition mainly affecting overweight pre‐pubertal adolescent boys where the femoral metaphysis slips inferiorly in relation to the femoral, proximal epiphysis. The age range is 10-16 years.
50
Why does SUFE occur?
Physis is not strong enough to support body weight and the femoral epiphysis slips due to the strain.
51
List risk factors for SUFE
``` Being Male Being Obese Renal Disease Endocrine Disorders 18-month growth period of Growth Spurt ```
52
What are SUFE clinical features?
Acute/Acute-on-chronic presentation Pain Loss of Internal Rotation Antalgic Gait & Externally Rotated Foot (Resulting in Limp) Obligatory External Rotation on Hip Flexion
53
What are investigations for SUFE?
X-Ray - Femoral Metaphysis has slipped in relation to the Femoral Proximal Epiphysis MRI
54
What is the treatment for SUFE?
urgent surgery to pin the femoral head to prevent further slippage. Pinning of unaffected side to prevent bilateral progression sometimes done. Open reduction if slippage severe.
55
What is Perthes Disease?
Idiopathic AVN of the hip. Can be bilateral.
56
What are prognostic factors for Perthes?
The Patient's Age; the younger the patient, the better the prognosis Preserving a Round Femoral Head, before it becomes Hard and Scraggly
57
List clinical features of Perthes
Intermittent Pain in the Groin (and sometimes, Knee and Thigh) Gradual Onset of Painless Limping Loss of Abduction and Internal Rotation (Hip Stiffness) Trendelenburg/Antalgic Gait is Positive
58
What are investigations for Perthes?
X-Ray | MRI
59
What is Clubfoot?
Congenital Talipes Equinovarus is a Congenital Deformity of the Foot, due to In-Utero Abnormal Alignment of the Joints between the Talus, Calcaneus and Navicular.
60
How does Clubfoot occur?
Abnormal joint alignment results in Contractures of the Soft Tissues (Ligaments, Capsule & Tendons) resulting in a Deformity consisting of Ankle Equinus (Plantarflexion), Supination of the Forefoot and Varus Alignment of the Forefoot which are not immediately correctable.
61
What is the clinical presentation of Clubfoot? | Think CAVE
Cavus Adductus Varus Equinus Inability to bring foot to neutral position in examination Boys are twice as commonly affected than girls (2:1)
62
How is Clubfoot treated?
Early: Splintage | Late or Splintage Resistant: Extensive Surgery
63
How do Congenital Vertical Talus (Rocker Bottom) Feet occur?
Rocker Bottom Feet occur due to the Irreducible Dislocation of the Talus on the Navicular Bone.
64
What are clinical features of Congenital Vertical Talus?
Round Plantar Surface of Feet | Equinus Hindfoot
65
What is Pes Cavus?
Abnormally high arch of the foot, usually highlighted by an Elevated Longitudinal Arch and Varus Hindfoot (where the heel is turned in)
66
What (normal) foot abnormality can accompany Pes Cavus?
Claw Toes
67
Wheat are investigations for Pes Cavus?
X-Ray Coleman Block Test to assess deformity as flexible/rigid
68
What is treatment for Pes Cavus?
Conservative Surgical: - Soft Tissue Release and Tendon Transfer for Flexible Deformity - Calcaneal Osteotomy for Rigid Deformity

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