Paediatrics (MSK) Flashcards

(149 cards)

1
Q

3 Differential diagnosis for a limping child 0-4 years

A
  • Septic arthritis.
  • Developmental dysplasia of the hip (DDH).
  • Transient sinovitis.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

3 Differential diagnosis for a limping child 5-10 years

A
  • Spetic arthritis
  • Transient sinovitis
  • Perthes disease
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

3 Differential diagnosis for a limping child 10-16 years

A
  • Septic arthitis
  • Slipped upper femoral epiphysis (SUFE)
  • Juvenile idiopathic arthritis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Pathophysiology of developmental dysplasia of the hip (DDH)

A

Abnormal fetal bone development → structural abnormalities in the hips:
- Hip instability.
- Potential subluxation/dislocation.
- Abnormal gait.
- Early degenerative changes.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are the major risk factors for DDH?

A
  • First-degree family history.
  • Breech presentation after 36 weeks or at birth.
  • Multiple pregnancy (e.g., twins).
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Findings on a NIPE that would indicate potential DDH?

A
  • Asymmetry of skin folds.
  • Different leg lengths.
  • Restricted hip abduction (unilateral or bilateral).
  • Knee level discrepancy when hips are flexed.
  • Clunking of hips on special tests.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are the special tests for DDH?

A
  • Ortolani test: Abduct hips gently while applying posterior pressure to dislocate anteriorly.
  • Barlow test: Apply downward pressure on knees to dislocate posteriorly.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is the initial imaging for DDH?

A

Ultrasound

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Management of DDH?

A
  • Under 6 months: Pavlik harness (hips in flexed and abducted position).
  • Over 6 months: Surgery + hip spica cast (immobilises hips).
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is the transient synovitis pathophysiology?

A
  • Temporary irritation/inflammation of the synovial membrane.
  • Often following viral upper respiratory infection.
  • Most often age 3-9 years.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What are the presenting features of transient synovitis?

A
  • Recent viral illness.
  • Symptoms:
    • Limp
    • Refusal to bear weight.
    • Groin or hip pain.
    • Mild low-grade fever (typically absent
    • Fever → consider septic arthritis!
  • General condition:
    • Otherwise well.
    • Normal observations.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is the management for transient synovitis?

A
  • Exclude other causes (e.g., septic arthritis).
  • Analgesia (e.g., paracetamol, ibuprofen).
  • Safety-net advice (e.g., fever → A&E)
  • Follow-up to ensure resolves.
  • Most improve within 48 hours and resolve within 1week.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is Perthes Disease?

A
  • Legg-Calvé-Perthes disease.
  • Typical patient: Boy aged 4-12 years (peak 5-8 years).
  • Avascular necrosis of the femoral head due to disrupted blood flow.
  • Idiopathic (no clear cause).
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Presentation of Perthes Disease

A

Gradual onset hip/groin pain and restricted movements.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Initial imaging of Perthes disease?

A

X-ray (can be normal early on).

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is the managament of Perthes disease?

A

Conservative (rest, traction, crutches, physio) vs surgery.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What is Osgood-Schlatter disease?

A
  • Inflammation and micro-avulsion fractures at the tibial tuberosity
    • Where the patellar ligament inserts into the tibia.
  • Causes anterior knee pain + a lump at tibial tuberosity.
  • Typically aged 10-15 years, male, unilateral.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Investigations for Osgood-Schlatters disease

A
  • Clinical: Based on history and examination.
  • X-ray may be helpful to rule out other pathology.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What is the management for Osgood-Schlatter disease?

A
  • Rest
  • ICE
  • Analgesia
  • Rehabilitaion
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What is transient synovitis also referred to as?

A

Irritable hip

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is most common cause of hip pain in children aged 3-10 years?

A

Transient synovitis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What is transient synovitis and what it is associated with?

A

Transient synovitis = temporary irritation + inflammation in the synovial membrane of the joint (synovitis)

Transient synovitis = associated with viral upper respiratory tract infection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

If a child (3-10 yrs) presents with mainfestations below, what are the most probable diagnoses/concerns?

A
  • Hip pain + no fever –> transient synovitis
  • Hip pain + fever –> septic arthritis (urgent treatment)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What is a red flag differential for transient synovitis?

A

Septic arthritis
(Hip pain + fever)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
A 7 year old patinet prenets with: * Limp * Refusal to weight bear * Groin or hip pain * Mild low grade temperature * Seems otherwise well From the Hx you discover that they had a viral URTI 2 weeks ago. Possible diagnosis?
Transient synovitis
26
What is the management for transient synovitis?
Symptomatic treatment → simple analgesia * + safety net advice (develops fever → A&E )
27
When does transient synovitis tend to resolve?
Symptoms fully resolve within **1-2 weeks** (Typically significant improvement after 24-48 hours)
28
What is Osgood-Schlatters disease?
**Inflammation** at the **tibial tuberosity** where the **patella ligament inserts** (Usually **unilateral**)
29
A boy aged 10-15 year old boy presents with pain in one anterior knee. Possible diagnosis?
Osgood-Schlatters disease
30
What is the most common cause of **anterior knee pain** in adolescents?
Osgood-Schlatters disease
31
What is the pathophysiology underlying Osgood-Schattlers?
* Stress from running, jumping etc at same time as growth in the epiphyseal pale → results in inflammation on the tibial epiphyseal plate * Multiple small **avulsion fractures** occur where the patella ligament pulls away tiny pieces of bone * Leads to tibial tuberosity growth → visiable lump below knee * Lump is intially tender due to inflammation → heals and inflammation settles → becomes hard
32
A 12 yr old child presents with: * Visible or palpable hard and tender lump at the tibial tuberosity * Pain in the anterior aspect of the knee * The pain is exacerbated by physical activity, kneeling and on extension of the knee He says that its been going on for a while (gradual onset). Possible diagnosis?
Osgood-Shlatters disease
33
What is the management for Osgood-Sclatters disease?
Initial mangement → reducing pain + inflammation: * Ice * NSAIDs * Reduction in physical activity After symptoms settle: * Stretching + physiotherapy → strengthen the joint
34
What does a kid's knee look like after Osgood-Schlatters disease?
A hard boney lump on their knee
35
What is rare complication of Osgood-Schlatters diease?
A **full avulsion fracture** (the tibial tuberosity is separated from the rest of the tibia) * Requires surgicical intervention
36
What is a slipped upper femoral epiphysis (SUFE)? ## Footnote Also known as slipped capital femoral epiphysis (SCFE)
Where the **head of the femur** is displaced ('slips') along the **growth plate**
37
What is the typical patient for a SUFE?
Obese children: * Boys → 8-15 years * Girls → 11 years
38
When is a SUFE most likely to occur?
An adolescent obese male undergoing a **growth spurt**
39
An obese 12 year old boy presents with: * Hip, groin, thigh or knee pain * Restricted range of hip movement * Painful limp * Restricted movement in the hip He also prefers to keep his hip in **external rotation** and has **restricted internal rotation** Possible diagnosis?
Slipped upper femoral epiphysis (SUFE)
40
What are the investigations you want to request when you suspect a SUFE?
First line: **X-ray** Second line: * Blood test (ESR, CRP → exclude other causes of joint pain) * Technetium bone scan * CT scan * MRI scan
41
What is the mangement of a SUFE?
**Surgery** (return the femoral head to correct position + fix it into place)
42
What is Perthes disease?
Perthes disease = disruption of blood flow to the **femoral head** → causing **avascular necrosis** of the bone → affecting the femur epiphysis ## Footnote The epiphysis = the bone distal to the growth plate (physis)
43
What age does Perthes disease usually occur at?
4-12 years Mostly between 5-8 years (more common in boys)
44
What causes Perthes disease?
No clear cause (idiopathic)
45
What is the main complication of Perthes disease?
A **soft + deformed femoral head** → leading to **early hip osteoarthitis** (Requires **total hip replacement**) ## Footnote (Over time there is **revascularisation** or **neovascularisation** and healing of the femoral head → **remodelling of the bone**
46
A 7 year old resents presents with a slow onset of: * Pain in the hip or groin * Limp * Restricted hip movements * Referred pain to the knee (maybe) No history of trauma. Possible diagnosis?
Perthes disease
47
What are two differentials for: * Pain in the hip or groin * Limp * Restricted hip movements
* Perthes disease * SUFE (if triggered by minor trauma + older children)
48
What are the investigations for Perthes disease?
First line: **X-ray** (can be normal) Others to establish diagnosis: * **Blood tests** (rule out other causes) * **Technetium bone scan** * **MRI scan**
49
Management for Perthes disease?
Initial management (younger + less severe) → maintain a healthy position + alignment, reduce risk of damage + deformity to the femoral head * Bed rest * Traction * Crutches * Analgesia Second line: * Physiotherapy * Regular x-rays * Surgery (improve alignment + function of the femoral head + hip)
50
What is osteogenesis imperfecta?
A genetic condition that affects the production of **collagen** resulting in **brittle bones** that are **prone to fractures**
51
What is osteogenesis imperfecta also called?
Brittle bone syndrome
52
What is collagen used for in MSK system?
Essential for maintaining the **structure + function** of bone, skin, tendons and connective tissues
53
An infant presents with unusual and recurrent fractures, you think about safegaurding. When examining the child you notice a blue discolouration of the sclera. Possible diagnosis?
Osteogenesis imperfecta
54
A child presents with recurrent fractures and * Hypermobility * Blue/grey sclera He also has: * Triangular face * Short stature * Dental problems (formation of teeth) * Bone deformaties (e.g. bowed legs + scoliosis) Possible underlying diagnosis?
Osteogenesis imperfecta
55
Clinical features of osteogenesis imperfecta
* **Hypermobility** * **Blue / grey sclera** (the “whites” of the eyes) * Triangular face * Short stature * Deafness from early adulthood * Dental problems, particularly with formation of teeth * Bone deformities, such as bowed legs and scoliosis * Joint and bone pain
56
How would you diagnose osteogenesis imperfecta?
**Clinical diagnosis** * **X-ray**: to help diagnose fractures * **Genetic testing**: not always done
57
What is the pharmacological management of osteogenesis imperfecta? What is the MDT managament?
* **Bisphosphonates** (increase bone density) * **Vitamin D supplementation** (prevent deficiency) Management is done by the multidisciplinary team, with: * **Physiotherapy** and **occupational therapy** to maximise strength and function * **Paediatricians** for medial treatment and follow up * **Orthopaedic** **surgeons** to manage fractures * **Specialist nurses** for advice and support * **Social workers** for social and financial support
58
What is osteomyelitis?
**Infection in the bone + bone marrow** (Typically occurs in the **metaphysis** of the **long bones**)
59
What is the difference between chronic and acute osteomyelitis?
* Chronic osteomyelitis = deep seated, slow growing infection → slowly developing symptoms * Acute osteomyelitis = presents more quickly with an acutely unwell child
60
What is the most common bacteria that causes osteomyelitis?
Staphylococcus aureus
61
How can the bacteria get into the bone in osteomyelitis?
* Direct → open fracture * Indirect → through blood after entering the body via different route e.g. skin or gums
62
What child is osteomyelitis more commonly found in?
Boys under 10 years
63
What are some risk factors for osteomyelitis?
* Open bone fracture * Orthopaedic surgery * Immunocompromised * Sickle cell anaemia * HIV * Tuberculosis
64
How does a child with osteomyelitis present?
Acutely with an unwell child or more chronically with subtle features * **Refusing to use the limb or weight bear** * **Pain** * **Swelling** * **Tenderness** Also: * Afebrile/low grade fever * Acute osteomyelitis may have high fever (particularly if it has spread to joint → causing septic arthritis)
65
What are the 3 investigations for osteomyelitis in children?
Ix: * **First line: X-ray (can be normal)** * **Gold standard: MRI** * Alternative: Bone scan * Bloods (Raised CRP, ESR, WBC) * **Blood culture (establish causative organism)** * **Bone marrow aspiration** or **bone biopsy** with histology + culture
66
What is the management for osteomyelitis?
* Extensive + prolonged **antibiotic therapy** * May require: **Drainage + debridement** of infected bone
67
What is Rickets?
Rickets = paediatric condition in which there is **defective bone mineralisation** → causing **'soft' + deformed bones** ## Footnote In adults → osteomalacia
68
What is rickets caused by?
Vitamin D or calcium deficiency ## Footnote There is a rare genetic form of rickets called hereditary hypophsophatamemic rickets (most commonly x-linked dominant) Vitamin D is either produced by the body in response to sunlight or obtained through foods such as eggs, oily fish or fortified cereals or nutritional supplements. Calcium is found in dairy products and some green vegetables.
69
What are the potential symptoms of rickets? ## Footnote Some children may be asymtomatic
* Lethargy * Bone pain * Swollen wrists * Bone deformity * Poor growth * Dental problems * Muscle weakness * Pathological or abnormal fractures
70
Name some deformities in rickets
* **Bowing of legs** → legs curve outwards * **Knock knees** → legs curve inwards * **Rachitic rosary** → ends of ribs = expand at the costochondral juntcions → causing lumps along the chest * **Craniotabes** → = soft skull, with **delayed closure of the sutures + frontal bossing** * **Delayed teeth** → with underdevelopment of the enamel
71
Name 2 risk factors for rickets
* Darker skin * Low exposure to sunlight * Live in colder climates * Spend majority indoors
72
You suspect rickets in a chid. What laboratory investigation do you request to check their vitamin D levels?
Serum 25-hydroxyvitamin D A result of **less than 25 nmol/L** = **establishes a diagnosis vitamin D deficiency** - which can lead to rickets.
73
What investigations do you perform when you suspect a child has rickets?
Diagnostic: * **Serum 25-hydroxyvitamin D** (diagnoses a vit D deficiency) * **X-ray** (gold-standard) Other (serum) (may): * Calcium (low) * Phosphate (low) * Alkaline phosphatase (high) * Parathyroid hormone (high) NICE clinical knowledge summaries suggest additional investigations to look for other pathology: * **Full blood count** and **ferritin**, for iron deficiency anaemia * **Inflammatory markers** such as ESR and CRP, for inflammatory conditions * **Kidney function tests**, for kidney disease * **Liver function tests**, for liver pathology * **Thyroid function tests**, for hypothyroidism * **Malabsorption** screen such as anti-TTG antibodies, for **coeliac disease** * **Autoimmune and rheumatoid tests**, for **inflammatory autoimmune conditions** ## Footnote Xray = required to diagnose rickets. X-rays may also show **osteopenia** (more **radiolucent bones**).
74
Which babies are most at risk of vitamin D deficiency?
**Breastfed babies** (Breastfeeding mums and children should take **10 mg Vit D supplements** per day)
75
What is the treatment for children witha vitamin D deficiency?
**Ergocalciferol** (Vitamin D) ## Footnote * The doses for treatment of vitamin D deficiency depend on the age (see the BNF). * The dose for children between 6 months and 12 years is 6,000 IU per day for 8 – 12 weeks.
76
What is the management for rickets?
Vitamin D + calcium supplementation
77
What is septic arthritis?
**Infection** inside of a **joint**
78
At what age does septic arthritis commonly occur in children?
Children under 4
79
Why is septic arthritis an emergency?
The infection can quickly **destroy a joint** and cause **serious systemic illness**
80
What is an importnat complication of joint replacement?
Septic arthritis
81
A child presents with a hot, red and swollen right knee, he is refusng to weight bear and cannot mve it like he usually does. He is also feelling not himself (quite tired) and a fever. Possible diagnosis?
Septic arthritis
82
What are the clinical mainfestations of septic arthritis?
* Usually only affects **one joint** → often **knee** or **hip** * Rapid onset of below: * Hot, red, swollen and painful joint * Refusing to weight bear * Stiffness and reduced range of motion * Systemic symptoms such as fever, lethargy and sepsis ## Footnote Septic arthritis can be subtle in young children, so always consider it as a differential when a child is presenting with joint problems.
83
When a child is presenting with joint problems (especially under 4 years) what is an important differential you should consider?
**SEPTIC ARTHRITIS** (Can be subtle in younger children)
84
What are the most common organisms in septic arthritis?
**Staphylococcus aureus** * Neisseria gonorrhoea (gonococcus) in sexually active teenagers * Group A streptococcus (Streptococcus pyogenes) * Haemophilus influenza * Escherichia coli (E. coli)
85
Name 2 differential diagnoses to septic arthritis
* Transient sinovitis * Perthes disease * Slipped upper femoral epiphysis (SUFE) * Juvenile idiopathic arthritis
86
When should you aspirate a joint with septic arthritis?
Before IV antibiotics
87
What will you test the joint aspirate of a joint with suspected septic arthritis?
* Gram staining * Crystal microscopy * Culture * Antibiotic sensitivities (The joint fluid may be **purulent** (full of pus)
88
What empirical Abx are given to children with suspected arthritis? How long are they given for? (Before you get back sensitivities)
- First line: **Flucloxacillin + rifampicin** - Vancomycin + rifampicin → penicillin, MRSA, prosthetic joint 3-6 weeks in total
89
What is the management for severe septic arthritis?
* 3-6 weeks of antibiotics * Surgical drainage * Surgical washout ## Footnote Surgical drainage and washout = to clear the infection
90
What is the difference between **clicking** and **clunking** when examining a newborns hips on a NIPE ## Footnote (In the context of DDH)
* **Clicking** → due to **soft tissue moving over bone (no concern)** → doesn't require ultrasound * **Clunking** → more likely to **indicate DDH** → requires ultrasound
91
A 7-year-old girl presents to the paediatric clinic with a 6-month history of morning joint stiffness, swelling, and pain in her knees and wrists. On examination, there is evident joint swelling, warmth, and limited range of motion in the affected joints. Possible diagnosis?
Juvenile idiopathic arthritis
92
What is juvenile idiopathic arthritis?
**Juvenile idiopathic arthritis (JIA)** = an **autoimmune inflammation** in the joints . * It is diagnosed where there is arthritis **without any other cause** - **lasting more than 6 weeks** in a patient **under the age of 16**. * It has also been known as juvenile chronic arthritis and juvenile rheumatoid arthritis. The key features of inflammatory arthritis = **joint pain + swelling + stiffness**
93
What are the 5 key subtypes of juvenile idiopathic arthitis (JIA)?
* Systemic JIA * Polyarticular JIA * Oligoarticular JIA * Enthesitis related arthritis * Juvenile psoriatic arthritis
94
How does systemic JIA present?
**Systemic JIA = Still's disease** * **Systemic JIA** = a **systemic illness** that can occur throughout childhood in boys and girls Typical features: * **Subtle salmon-pink rash** * High swinging fevers * Enlarged lymph nodes * Weight loss * Joint inflammation and pain * Splenomegaly * Muscle pain * Pleuritis and pericarditis
95
What do blood test results look like for someone with systemic JIA?
* Antinuclear antibodies (ANA) + rheumatoid factors (RF) = typically negative * **Raised inflammatory markers (CRP + ESR)** * **Raised platelets + serum ferritin**
96
What is the key complication of systemic JIA?
**Macrophage activation syndrome (MAS)** **MAS** = Where there is **severe activation of the immune system** with a **massive inflammatory response**. It presents with an **acutely unwell child** with : * **Disseminated intravascular coagulation (DIC)** * **Anaemia** * **Thrombocytopenia** * **Bleeding** * **A non-blanching rash**. It is **life threatening**. A key investigation finding is a **low ESR**.
97
Info: Tom Tip
Thinks of systemic JIA (Still's disease) when a patient presents with: * Salmon-pink rash * Fevers * Joint pain
98
In children that have fevers for more than 5 days, what are the key non-infective differentials?
* Kawasaki disease * Still's disease * Rheumatic fever * Leukaemia
99
What is polyarticular JIA?
* **Polyarticular JIA** = idiopathic inflammatory arthritis in **5 joints or more**. * The inflammatory arthritis tends to be **symmetrical** and can affect the small joints of the hands and feet, as well as the large joints such as the hips and knees. * There are **minimal systemic symptoms**, but there can be mild fever, anaemia and reduced growth. Systemic symptoms are mild, unlike systemic onset JIA. * **Polyarticular JIA** = the equivalent of **rheumatoid arthritis in adults**. * Most children = negative for rheumatoid factor → “**seronegative**”. * When rheumatoid factor is positive → “**seropositive**”. * Seropositive patients tend to be older children and adolescents and the disease pattern is more similar to rheumatoid arthritis in adults.
100
What is oligoarticular JIA?
**Oligoarticular JIA** = **involves 4 joints or less** * Usually it **only affects a single joint** → described as a **monoarthritis**. * It tends to affect the** larger joints**, (**knee** or **ankle**). * It occurs more frequently in **girls** under the **age of 6 years**. * **Patients tend not to have any systemic symptoms** and inflammatory makers will be normal or mildly elevated.
101
What is the main associated feautures with oligoarticular JIA?
**Anterior uveitis** (Patients should be referred to opthalmologist)
102
What do the blood tests look like for oligioarticular JIA?
**Oligoarticular JIA = Antinuclear antibodies (ANA) positive** * = Rheumatoid factor negative
103
How does enthesitis-related present?
* Arthritis occurring in the hips, knees, ankles, feet * More common in boys over 6 (unlike rest of JIA types) * Associated with acute anterior uveitis
104
What is enthesitis-related arthritis?
* **Enthesitis = inflammation** of the **insertion** of the **ligament** or **tendon** to the bone (enthesis) * Occurs in the **knees**, **heels**, **plantar region** of the **feet** * Patients have **inflammatory arthritis** in the joints (as well as **enthesitis**) Enthesitis-related arthritis = thought as paediatric version **of seronegative spondyloarthropathy group** of conditions that affect adults (ankylosing spondylitis, psoriatic arthritis, reactive arthritis, inflammatory bowel disease -related arthritis) - so might be worth checking for signs of these: * **Psoriasis (psoriatic plaques + nail pitting)** * **Inflammatory bowel disease (intermitted diarrhoea + rectal bleeding)** Patients with enthesitis-related arthritis are prone to **anterior uveitis**, and should see an ophthalmologist for screening, even if they are asymptomatic.
105
What gene variant do patients with enthesitis-related arthritis usually have?
HLA-B27
106
Info: Enthesitis-related arthritis
Patients with **enthesitis** will be tender to localised palpation of the entheses. Therefore it is worth palpating key areas to elicit tenderness of the entheses: * Interphalangeal joints in the hand * Wrist * Over the greater trochanter on the lateral aspect of the hip * Quadriceps insertion at the **anterior superior iliac spine** * Quadriceps and patella tendon insertion around the patella * Base of achilles, at the calcaneus * Metatarsal heads on the base of the foot
107
What is juvenile psoriatic arthritis?
**Juvenile psoriatic arthritis = seronegative inflammatory arthritis** - associated with **psoriasis** Pattern of joint involvement varies - patients can have: * **Symmetrical polyarthritis** - affecting the **small joints** similar to rheumatoid * Or an **asymmetrical arthritis** affecting the **large joints** in the **lower limb**
108
What are the clinical features of juvenile psoriatic arthritis?
* **Plaques of psoriasis** on the skin * Pitting of the nails (**nail pitting**) * **Onycholysis** (separation of the nail from the nail bed) * **Dactylitis** (inflammation of the full finger) * **Enthesitis** (inflammation of the entheses, which are the points of insertion of tendons into bone)
109
Management of juvenile idiopathic arthritis
First line: * **NSAIDs** * **Intra-articular corticosteroids** * **Intravenous corticosteroids** (Short-term to control severe symptoms - or in systemic JIA) * **Methotrexate** (DMARD (slow the progression + prevent joint damage) (Avoided if presence of sacro-ilitis or macrophage activation syndrome (MAS)) * **Physiotherapy + occupational therapy** * Biologic therapy - such as the **tumour necrosis factor inhibitors (etanercept (anti-TNF), infliximab)** ## Footnote Etanercept = should be avoided in presence of sacro-ilitis, MAS and uveitis
110
Complications of juvenile idiopathic arthritis
* **Joint deformities and functional disability** * **Growth disturbances** * **Uveitis** * **Osteoporosis** * **Secondary amyloidosis**: with systemic JIA only * **Pericarditis, pleuritis, peritonitis**: with systemic JIA only * **Macrophage activation syndrome (MAS)**: a life-threatening condition seen in 10% of JIA cases, caused by uncontrolled activation and proliferation of T lymphocytes and macrophages. It presents as a sepsis-like condition with fever, hepatosplenomegaly and haemorrhagic manifestations
111
What is talipes (clubfoot)? The causes? The diagnosis?
* **Definition**: **Fixed abnormal ankle position** at **birth** (aka clubfoot). * **Causes**: Can occur spontaneously or with other syndromes. * **Diagnosis**: Seen at birth or on newborn exam.
112
What are the types of talipes?
* Causes: Can occur spontaneously or with other syndromes. * Diagnosis: Seen at birth or on newborn exam.
113
What is the treatment for talipes (Ponseti Method)?
* Non-surgical, started soon after birth. * **Foot gently manipulated and cast applied repeatedly**. * **Achilles tenotomy often performed to release tendon.** * After casting: boots and bars brace until ~4 years old. * Surgery only if Ponseti fails or unsuitable.
114
What is positional Talipes?
* Foot rests in plantar flexion + supination, but **not fixed.** * **No bony abnormality**; muscles slightly tight. * **Foot movable** to normal position. * Managed with **physiotherapy + exercises; resolves over time.**
115
What is achondroplasia?
Most common cause of **disproportionate short stature** (**skeletal dysplasia**).
116
What genetic mutation leads to achrondroplasia?
* Caused by **FGFR3 gene** mutation on **chromosome 4.** * **Autosomal dominant** inheritance. * **Homozygous mutation → fatal** in neonatal period. * Mutation → **abnormal growth plate function** → **short bones.**
117
What are the key features of achrondroplasia?
* **Disproportionate short stature** (~4 ft average). * **Short limbs **(proximal > distal). * **Normal trunk length, intelligence, and lifespan.** * **Short digits, bow legs (genu varum).** * **Disproportionate skull**: - **Flattened mid-face & nasal bridge** (abnormal skull base growth). - **Frontal bossing** (normal cranial vault growth). - **Foramen magnum stenosis.**
118
Name some associated conditions of achondroplasia
* **Recurrent otitis media** * Kyphoscoliosis * **Spinal stenosis** * **Obstructive sleep apnoea** * Obesity * Foramen magnum stenosis → cervical cord compression / **hydrocephalus**
119
What is the management for achondroplasia?
* **No cure. Multidisciplinary support:** paediatrics, physio, OT, dietician, orthopaedics, ENT, genetics. * Leg lengthening surgery possible but controversial – risk of pain, reduced function.
120
Prognosis of achondroplasia
* **Normal life expectancy** (if no major complications). * Tendency to **gain weight** due to short stature. * **Psychosocial challenges** common.
121
What is osteosarcoma?
**Osteosarcoma** = type of **bone cancer** * This usually presents in **adolescents** and **younger adults** aged **10 – 20 years**. * The most common bone to be affected is the **femur**. * Other common sites are the **tibia** + **humerus**.
122
What is the main presenting feature of osteosarcoma?
**PERSISTENT BONE PAIN** - particularly worse at night time (This may **disturb or wake them from sleep**)
123
Clinical features of Oestocarcoma
* **Persistent bone pain** (**worse at night**, may wake child). * **Bone swelling** or **palpable mass.** * **Restricted joint movement**.
124
Ix for osteosarcoma
* **Urgent X-ray (within 48h) for unexplained bone pain/swelling (NICE)**. * If **suspicious → urgent specialist referral (within 48h).** * X-ray findings: - **Poorly defined bone lesion**. - **Bone destruction** with **“fluffy” appearance.** - **Periosteal reaction → “sunburst” pattern**. - Possible soft tissue mass. * Bloods: **↑ ALP**. * Further imaging: - CT - MRI - **Bone scan** - **PET** - **Biopsy**
125
A 14 yr old child presents with a palpable mass on his femur. It is painful persistently and is particularly worse at night. What is the important thing you are going to do?
A **very urgent direct access xray** **within 48 hours** for **children** If the x-ray suggests a possible sarcoma they need very urgent specialist assessment within 48 hours.
126
What is the management of osteosarcoma?
* **Surgical resection** (may require amputation). * **Adjuvant chemotherapy.** * Multidisciplinary support: oncology, surgery, physio, OT, psychology, dietician, prosthetics, social work.
127
Name two complications
* **Pathological fractures** * Mestastasis
128
What are the x-ray features of osteosarcoma?
* **Poorly defined lesion in the bone** - with **destruction** of the normal bone and a **“fluffy” appearance** * There will be a **periosteal reaction** (**irritation of the lining of the bone**) that is classically described as a **“sun-burst” appearance**
129
What are some red flags for hip pain?
* Child under 3 years * Fever * Waking at night with pain * Weight loss * Anorexia * Night sweats * Fatigue * Persistent pain * Stiffness in the morning * Swollen or red joint
130
What are some criteria for an urgent referral for assessmnet in a limping child?
* Child under 3 years * Child older than 9 with a restricted or painful hip * Not able to weight bear * Evidence of neurovascular compromise * Severe pain or agitation * Red flags for serious pathology * Suspicion of abuse
131
A child presents with a painful hip, what are some investigations should you perform? (A summary for differentials of hip pain)
* **Blood tests** including **inflammatory markers (CRP and ESR)** → JIA and septic arthritis * **X-rays** → diagnose **fractures**, **SUFE** and other **boney pathology** * **Ultrasound** → establish an **effusion (fluid)** in the joint * **Joint aspiration** → used to diagnose or exclude **septic arthritis** * **MRI** → **osteomyelitis**
132
What are growth plates?
* **Growth Plates = Epiphyseal Plates** * Found only in children, between epiphysis & metaphysis. * Made of **hyaline cartilage**; allow bone growth in length. * **Fuse in teens → epiphyseal lines.** * **Weaker than bone** → prone to specific fracture types.
133
Bone differences between children and adult bones?
* **Children**: **More cancellous (spongy) bone** → flexible, fast healing. * **Adults**: More **cortical (hard)** bone → stronger but slower healing. * Children prone to: - **Greenstick fractures** – one side breaks, other bends. - **Buckle** (**torus**) fractures – compression injury. * **High remodelling ability** → can correct mild deformities over time. Fracture Healing: * **Younger child = faster healing.** * **Bone remodelling: reshapes bone along lines of stress**.
134
Types of common fractures?
* Buckle (torus) * Transverse * Oblique * Spiral * Segmental * Comminuted * Greenstick * Salter-Harris (growth plate)
135
Fractures at the growth plate
Fractures through the growth plate can **cause issues with growth in that bone**. Growth plate fractures are graded using the **Salter-Harris classification.** The higher the Salter-Harris grade, the more likely the fracture is to disturb growth. Growth Plate (Salter-Harris) Fractures – SALTR mnemonic: * Type I – **S**traight across (through growth plate) * Type II – **A**bove (through metaphysis) * Type III – be**L**ow (through epiphysis) * Type IV – **T**hrough (metaphysis + epiphysis) * Type V – c**R**ush (crush injury to plate) → Higher type = higher growth disturbance risk.
136
What is the management for fractures in children?
* **Safeguarding check**: Does the story fit the injury? * **Step 1 – Align bone:** - **Closed reduction** (**manipulation**) or **open reduction** (**surgery**). * **Step 2 – Stabilise fracture:** - Cast, K-wires, intramedullary nails/wires, screws, plates. ## Footnote Step 2 is to provide **relative stability** for a period of time, to allow healing. This can be done by fixing the bone in the correct position while it heals.
137
What is the pain management for a child with a fracture?
Pain Management (WHO 2-step ladder): 1. **Paracetamol** or **ibuprofen** 2. **Morphine** (if severe → admit child) * **Avoid: Codeine, tramadol (unpredictable metabolism).** * **Avoid aspirin <16 yrs** → risk of **Reye’s syndrome** (except in **Kawasaki disease**). ## Footnote Reye's syndrome: * Rare but serious condition causing **acute encephalopathy (brain swelling)** and **liver** **dysfunction.** * Typically occurs in children **after a viral infection** (e.g., influenza, varicella). * **Strongly associated with aspirin use** during or after viral illness.
138
What is muscular dystrophy?
Umbrella term for genetic condition that causes the **gradual weakening + wasting of muscles**
139
What is Gower's sign?
A specific technique used by children with **proximal muscle weakness** to stand up from the lying position
140
A 5 year old boy presents with vague symptoms of muscle weakness and you notice that they use their hands on the legs to help them stand up. What could be a possible underlying genetic condition?
Duchennes muscular dystrophy
141
What is the management for muscular dystrophy?
No cure - Occupational therapy, physiotherapy, medical appliances (wheelchairs) - Treatment of complications e.g. spinal scoliosis and heart failure
142
What type of inheritance underlies Duchennes muscular dystrophy?
X-linked recessive (girls can be carriers)
143
What is the defective gene underlying Duchenne muscular dystrophy?
**Dystrophin** gene on the **X-chromosone** (protein that helps hold muscles together)
144
If a mother is a carrier of Duchenne muscular dystrophy, what are the chances her child being a carrier or having the condition?
If the child is a: - Girl → 50% carroer - Boy → 50% having the condition
145
How do boys present with DMD?
- 3-5 years: Muscle weakness around pelvis - Weakness = progressive - Teenager: Wheelchair bound - Life expectancy: 25-35 years with good management of cardiac + respiratory complications
146
What are the 2 management options for DMD?
- **Oral steroids** → slow muscle weakness progression - **Creatine** → slight improvement in muscle strength
147
Which gene is affected in Beckers muscular dystrophy?
Dystrophin (Very similar to Duchennes, but less severly affected and maintains some of its function) (Management is similar Duchennes)
148
An adult presents with new: - Progressive muscle weakness - Prolonged muscle contractions - Cataracts - Cardiac arrhythmias Possible underlying genetic condition?
Myotonic dystrophy
149
An adult patient tells you that he is unable to let go after shaking someones hand, and unable to release their grip on the doorknob after opening a door. What is a possible underlying genetic condition?
Myotonic dystrophy