Limping Child: History Taking and Differential Diagnoses

Overview

Children develop a mature gait pattern at around 3 years. A limp is an asymmetric gait and deviates from a normal age-appropriate gait pattern. A limp in a child may be due to many underlying causes.

The most common gait seen in children is an antalgic gait. Other gait types are less common.

Abnormal Gait Types and Causes

Antalgic gait

An antalgic (‘anti-’ against, ‘algic-’ pain) gait is the most common limp encountered in children. This is characterized by a shortened stance phase and an increased swing phase. This appears as if the child is ‘hurrying’ off of one leg to offload pain. It can be thought of as the patient not wanting to spend time putting weight on the affected leg. 

An antalgic gait suggests weight-bearing pain which may be due to trauma or infection.

Trendelenburg gait

This is where the pelvis tilts downwards towards the unaffected side during the leg swing phase of gait due to weakness in the contralateral gluteus maximus muscle.

A Trendelenburg gait in children suggests disorders of the hip, such as development dysplasia of the hip, Perthes’ disease, or slipped capital femoral epiphysis.

High stepping gait

Also known as steppage gait or neuropathic gait, high stepping gait is when there is excess flexion of the hip and knee joints in the swing phase due to an inability to dorsiflex the foot.

A high stepping gait in children suggests neurological causes such as cerebral palsy or common peroneal nerve palsy.

Circumduction gait

Also known as a vaulting gait, a circumduction gait is when there is hyperextension and locking of the knees at the end of the stance phase and the child swings their other leg around the affected limb.

A circumduction gait in children suggests a limb-length discrepancy or abnormal knee mobility.

Causes

Overview

The causes of a limping child vary according to age, however, these are general guides and some conditions (particularly serious ones) can happen at any age:

• Any age:
  • Infection – septic arthritis, osteomyelitis, discitis
  • Malignancy
  • Non-malignant haematological disorders – sickle cell disease, haemophilia
  • Rickets
  • Neuromuscular disorders – cerebral palsy, spina bifida, muscular dystrophy
  • Inflammatory disorders – juvenile idiopathic arthritis
  • Anatomical problems – limb length discrepancy
  • Non-musculoskeletal causes – appendicitis, testicular torsion, inguinal hernia
• <3 years:
  • Fracture or soft tissue injury – ‘toddler’s fracture/child abuse
  • Developmental dysplasia of the hip
• 3-10 years:
  • Transient synovitis
  • Fracture or soft tissue injury – stress fracture/child abuse
• 10-18 years:
  • Fracture or soft tissue injury – stress fracture/child abuse
  • Slipped upper femoral epiphysis
  • Perthes’ disease
  • Osgood-Schlatter disease
  • Osteochondritis dissecans
  • Chondromalacia patellae

History Taking

History of presenting complaint

With each symptom, always (if relevant) ask about:

• When did it start?
• Did it come on suddenly or gradually?
• Is it continuous or intermittent?
• Has this ever happened before?

Limping

• Onset and timeline:
  • How suddenly did the limp appear?
    • Acute onset suggests trauma, infection, or inflammation
    • Subacute symptoms may suggest overuse injuries (e.g. stress fractures)
  • Is it getting better, worse, or staying the same?
    • Periodic symptoms, such as those that improve with exercise, can suggest inflammation 
• Triggers:
  • Was there any trauma? – always keep child maltreatment in mind
  • Was there any recent infection? (may suggest transient synovitis)
• Pain – use SOCRATES to assess this:
  • Constant, localising, and reproducible pain suggests a fracture, septic arthritis, or osteomyelitis
  • In infants, pain during nappy changes may suggest discitis
• Associated symptoms:
  • See paediatric systems review, particularly associated neurological problems including muscle weakness, ‘floppiness’, or stiffness
• Exacerbating/relieving symptoms:
  • Specific positions that alleviate symptoms can suggest an underlying diagnosis
  • A good response to NSAIDs can suggest inflammation
• Scale/severity – how is it affecting the child’s activities?
  • For example, is it stopping them from playing, walking, running etc.?

Screen for red flags:

• Pain waking the child at night – suggests malignancy
• Pain that is not relieved with resting – malignancy, inflammation
• Unable to weight bear/painful limitation in range of movement – trauma, infection
• Redness, swelling, stiffness – infection, inflammation
• Constitutional symptoms (fever, weight loss, night sweats) – infection, malignancy, inflammation
• Rashes, bruising, petechiae, purpura – haematological disorders, inflammation, or child maltreatment
• Severe pain, anxiety, and agitation – compartment syndrome, especially if disproportionate to the injury
• Palpable masses – malignancy, infection

Paediatric systems review

Briefly screen for the following, and adjust where appropriate:

• Screening for neurological features:
  • Changes in gait, abnormal movements
  • Vision changes, hearing changes
  • Hypotonia (floppiness), hypertonia (stiffness, spasticity)
  • Headaches, neck stiffness, photophobia
  • Level of consciousness
  • Seizures, fits, falls, or ‘funny turns’
• Screening for musculoskeletal features:
  • Limp, limitation in movement
  • Joint pain, joint swelling, joint stiffness
• Screening for general features:
  • Fever, chills, rigours, sweating
  • Crying – is it consolable or inconsolable?
  • Growth, weight loss 
  • Behaviour, appetite, alertness, activity, sleeping
• Screening for cardiorespiratory features:
  • Cough, shortness of breath
  • Noisy breathing (stridor, wheezing), rapid breathing
  • Cyanosis
• Screening for gastrointestinal features:
  • Vomiting, diarrhoea, constipation, stool character (e.g. mucus, blood, melaena etc.)
    • Bloody diarrhoea is generally rare in children and may be due to infection or inflammatory bowel disease
  • Abdominal pain, abdominal distension
• Screening for genitourinary features:
  • Urine output and hydration – number of wet nappies, number of times using the toilet
  • Dysuria, frequency, urgency, enuresis, loin pain
  • Haematuria
  • Scrotal swelling
• Screening for ear, nose, and throat features:
  • Ear: pain, discharge, hearing changes
  • Nose: epistaxis, discharge, congestion
  • Throat, mouth, and neck: sore throat, neck swelling, limited neck movement, mouth ulcers
• Screening for haematological features:
  • Bleeding, bruising, gum bleeding, fatigue, pallor 
• Screening for skin features:
  • Rash, itching, crusting, oozing, changes in skin pigmentation

Birth

• How was the pregnancy?
  • Any abnormal scan results or extra scans? Why?
  • Any problems? – including maternal illness, diabetes, alcohol, drinking, drug use
• What happened during birth?
  • Number of weeks gestation?
  • Weight at birth?
  • Birth location? – such as in hospital, at home?
  • Mode of delivery? – vaginal delivery, caesarean section?
  • Any complications to both the mother or child during or after birth?
  • Did they need to stay in hospital for longer/was there any admission to neonatal intensive care?

Feeding and toileting

• Ask about diet and appetite:
  • What is their diet and appetite usually like and what is it like now?
  • Breastfed or formula milk?
  • When and how did weaning start?
• Ask about toileting:
  • Are they toilet trained?
  • How often do they go to the toilet/how many wet nappies?

Growth

• How is their weight?
  • Are they gaining weight, staying the same, or struggling to gain weight?
  • Do they have their personal child health record (PCHR, the ‘red book’)
• Have they started puberty?
  • Usually 8-13 for girls, 9-14 for boys 

Development

• Is the child meeting developmental milestones?
• Are there any concerns with development?
• How is school/nursery progress and attendance?
• Perform a developmental assessment if necessary

Immunisations

• Are they up to date with their immunisations?

General questions

• Do they have any other medical conditions?
• Have they ever had any previous surgery?
• Do they take any regular medications?
• Do they take any over-the-counter medications, herbal remedies, or supplements?

Family history

• Is there any family history of anything similar?
• In some autosomal recessive inherited diseases, consanguinity may be possible, ask about this sensitively if necessary

Allergy history

• Are they allergic to anything?
  • What happens during the allergic reaction?

Social history

• Ask about their home situation:
  • Who’s at home?
    • Ask about parents/carers, siblings, other people at home
  • What support does the child and parent/carer have?
  • What is their housing situation? – e.g. cramped housing
  • What are the parent’s occupations?
  • How is the parents’/carers’ mental health?
• Ask about the child’s activities including school and nursery:
  • Does the child go to school/nursery?
  • Has the child had to stay home from school/nursery?
• Ask about smoking, drinking, and illicit drug use sensitively:
  • Does anyone smoke inside or outside of the house?
  • Does anyone drink alcohol inside the house?
    • If relevant, does the young person drink alcohol?
  • Does anyone at home use illicit drugs?
    • If relevant, does the young person use illicit drugs?
• Ask questions regarding safeguarding:
  • Are they known to social services?
  • Are there any safeguarding concerns?
  • You may need to separately ask the child about safeguarding concerns including:
    • Are they at risk of harm?
    • Are they being made to do things they don’t want to do?
• Ask about possible infectious contacts:
  • Is anyone else at home ill?
  • Has anyone in school/nursery been ill?
  • Has there been any recent foreign travel?

Physical Examination

Overview

Physical examinations may include:

• A general examination of the child:
  • Fever and tachycardia – can suggest sepsis
  • Pallor, irritability, or lethargy – can suggest sepsis or systemic inflammation
  • Rashes, bruising, petechiae, purpura – can suggest haematological disorders, rheumatological disorders, or child maltreatment
  • Lymphadenopathy – suggests infection, haematological disorders, or rheumatological disorders
• Plot a growth chart:
  • Poor growth can suggest chronic diseases such as systemic inflammation
• Musculoskeletal examination – paediatric GALS (pGALS – Gait, Arms, Legs, and Spine):
  • Look:
    • An inability to weight bear
    • Scoliosis
    • Hair on the spine/sacral pits suggesting spina bifida
    • Leg length discrepancies
    • Pelvic asymmetry
    • Calf muscle hypertrophy – suggesting muscular dystrophy
    • Swelling, agitation and pain disproportionate to the injury – suggest compartment syndrome
  • Feel:
    • Bony/muscle tenderness – suggests trauma, infection, inflammation
    • Focused vascular and neurological examination – may identify neurovascular compromise (e.g. reduced/absent pulses, paraesthesia)
  • Move:
    • Assess gait – may identify gait abnormalities
    • Range of movement – may show hypermobility or reduced range of movement 
• Neurological examination:
  • May find abnormalities with tone, power, muscle bulk and symmetry, and reflexes
• Developmental assessment:
  • May identify regression/delayed milestones
• Abdominal examination:
  • Abdominal masses or hepatosplenomegaly may suggest malignancy

Investigations

Referral

Urgently refer to secondary care if any of the following are present:

• Any red flags, mentioned above
• Suspicion of child maltreatment
• <3 years old – transient synovitis is rare in this age group and septic arthritis is more common
• >9 years old with painful hip movements, suggests slipped upper femoral epiphysis

Consider a specialist assessment with urgency depending on clinical judgement if any of the following are present:

• Uncertainty
• Limp cannot be managed in primary care
• Presenting with limp on multiple different occasions

Investigations

Overview

When suggesting investigations in an OSCE, the BOXES (Blood tests, orifice tests, x-rays, ECGs, special tests) mnemonic is useful for deciding the order of investigations. Some investigations may include:

• Blood tests:
  • Full blood count (FBC):
    • May show anaemia suggesting inflammation
    • May show leukocytosis suggesting infection
  • Blood film:
    • May be considered if haematological malignancy is suspected
  • Erythrocyte sedimentation rate (ESR) or C-reactive protein (CRP):
    • Non-specific markers of inflammation, may be elevated
  • Blood cultures:
    • If sepsis is suspected
  • Bone profile and vitamin D:
    • May show derangements in vitamin D, calcium, phosphate, parathyroid hormone, and alkaline phosphatase
  • Autoantibodies (e.g. rheumatoid factor and anti-nuclear antibodies):
    • May be useful for suspected rheumatological disorders
  • Creatine kinase:
    • May be elevated in muscular dystrophies
  • Coagulation assay:
    • Useful if bruising is present, may identify haematological disorders
• Orifice tests:
  • Urinalysis and culture:
    • If a urinary tract infection is suspected or there is suspicion of reactive arthritis
• X-rays:
  • X-ray of the affected joint:
    • May identify fractures or other signs associated with specific disorders
• Special tests:
  • Ultrasound scans:
    • May identify joint effusion
  • CT/MRI:
    • May be used to assess bone tumours
  • Muscle biopsy:
    • May be used for muscular dystrophy
  • Bone biopsy:
    • May be used for bone tumours
  • Bone marrow biopsy:
    • May be used for haematological malignancy
  • Genetic testing:
    • May be used for identifying genetic disorders, such as mutations associated with muscular dystrophies 

Differential Diagnoses: <3 years

Toddler’s fracture

• An undisplaced or minimally displaced spiral fracture of the tibia seen in toddlers who start walking usually after twisting the leg when running/falling
• The child usually refuses to walk/bear weight
• Consider child maltreatment if other injuries are present or the explanation is inconsistent, this type of fracture can only happen in children who can ‘toddle’ (i.e. not present in non-mobile children)
• Some investigations include:
  • X-ray:
    • Identifies spiral fracture

Developmental dysplasia of the hip (DDH)

• More common in girls, firstborns, breech babies, and oligohydramnios
• Barlow and Ortolani’s tests usually identify suspected DDH
• Delayed walking may be present
• Some investigations include:
  • Ultrasound scan:
    • Generally the initial investigation of choice if DDH is suspected
  • X-ray of the hip:
    • Used first-line if the infant is >4.5 months old

Cerebral palsy

• Risk factors include prematurity, low birth weight, infection in pregnancy, hypoxic-ischaemic encephalopathy
• Delayed motor milestones:
  • Not sitting by 8 months
  • Not walking by 18 months
  • Early hand preference before 1 year old
• Neurological abnormalities:
  • May include persistent primitive reflexes, hypertonia, feeding difficulties
• Associated learning difficulties, epilepsy, hearing difficulties, and strabismus may be present
• Referral:
  • All children with suspected cerebral palsy should be referred to secondary care for management by a multidisciplinary team

Spina bifida

• There may be maternal folate deficiency, use of certain medications (e.g. sodium valproate, trimethoprim, methotrexate), family or personal history of neural tube defects
• Patch of hair/dimple on the spine may be present
• Lower limb paralysis and/or deformities and bladder/bowel incontinence may be present
• Delayed motor milestones
• Some investigations include:
  • X-rayspine:
    • May show spina bifida
  • MRI spine:
    • Assesses the spinal cord, meninges, and spine in more detail
  • Antenatal screening:
    • Maternal serum alpha-fetoprotein (AFP) may be elevated at 16-18 weeks gestation

Differential Diagnoses: 3-10 years

Transient synovitis

• Usually seen in 3-8-year-olds, rare in <3 year olds and septic arthritis is more common in this group
• Acute mild-moderate hip pain with/without restriction in movement, but not severe
• Children may prefer not to weight bear and usually are not completely unable to
• There may be a preceding viral infection
• Child is otherwise well and afebrile
• Transient synovitis is a diagnosis of exclusion – Kocher criteria can be used. If none of the following is present, septic arthritis is unlikely:
  • Non-weight bearing
  • Fever >38.5 °C
  • Raised ESR
  • Raised white cell count
• One or more of the above means septic arthritis is likely

Perthes’ disease (Legg-Calvé-Perthes’ disease)

• 5 times more common in boys than girls, also may present in 10-19 years of age
• Symptoms emerge over weeks with no trauma with hip pain that leads to a limp that may refer to the groin – usually unilateral
• No constitutional symptoms, no evidence of synovitis
• Some investigations include:
  • X-ray of hips:
    • May show flattening and/or a decreased size of the femoral head
    • May show widened joint space
  • MRI of hips:
    • May show features described above under X-ray
  • Bone scintigraphy (technetium bone scan):
    • May show ‘cold spots’ in the affected hip

Differential Diagnoses: 10-19 years

Slipped upper femoral epiphysis

• More common in children 10-19 years old, especially boys who are obese
• Symptoms occur over weeks-months or following trauma:
  • Limp on affected side, hip, groin, or referred pain to the knee
  • Loss of internal rotation and abduction
  • The child may hold the hip in flexion and external rotation to relieve pain
• No fever or constitutional symptoms
• Some investigations include:
  • Anteroposterior (AP) and frog-leg lateral X-rays:
    • Diagnostic

Osgood-Schlatter disease

• Overuse and strain on patellar tendon lead to apophysitis of the tibial tuberosity
• Usually seen in active children
• Knee pain and tenderness over tibial tuberosity, worse with activity
• Diagnosis is clinical if there are no other features suggesting an alternate diagnosis

Sever’s disease

• Due to repetitive pulling on the Achilles tendon on an unossified apophysis causing inflammation
• Usually seen in active children and more common in boys
• Presents with heel pain that worsens with activity
• Tenderness may be present at the insertion of the Achilles tendon at the heel

Osteochondritis dissecans

• Small piece of subchondral bone separates from the surrounding area due to interrupted blood supply leading to hindered motion
• Knee pain and swelling after exercise
• Joint locking and instability may be present
• Small effusions and limited range of movement present
• Some investigations include:
  • X-ray:
    • May show loose bodies
  • MRI:
    • May show loose bodies and used to assess them in more detail

Chondromalacia patellae

• More common in girls, especially if active
• Presents as anterior knee pain when walking up and down stairs or standing after prolonged swimming
• There may be associated quadriceps wasting and tenderness of the patella

Differential Diagnoses: Any Age

Septic arthritis, osteomyelitis, and discitis

• Seen in all ages and can be difficult to distinguish between the two
• Acute limp with refusal to weight bear, refusal to sit (suggesting spine or hip involvement), use the affected joint
• Pain is severe and has associated fever and irritability
• Joint swelling, warmth, and erythema present
• Limited range of movement
  • Limited spine movement, stiff posture, refusal to sit upright, or local spine tenderness can suggest discitis
• In infants, the only sign may be ‘pseudoparalysis’ – the inability to move the body during pain
• Kocher criteria – any one of the following suggest septic arthritis is likely compared to transient synovitis
  • Non-weight bearing
  • Fever >38.5 °C
  • Raised ESR
  • Raised white cell count
• Some investigations include:
  • Joint aspiration and synovial fluid microscopy, culture, and sensitivities:
    • Ideally before giving antibiotics but do not delay treatment
    • The synovial fluid may appear turbid, have raised white cells, or may have a positive gram stain
  • Blood culture:
    • Ideally before giving antibiotics but do not delay treatment
    • May identify causative pathogen
  • Full blood count (FBC) and differential:
    • May show leukocytosis, suggesting infection
  • Erythrocyte sedimentation rate (ESR) or C-reactive protein (CRP):
    • Non-specific markers of inflammation, may be elevated
  • X-ray of the affected bone/joint:
    • May show soft tissue swelling or features of erosion
  • CT/MRI of the affected joint:
    • For osteomyelitis, identifies tissue swelling and infection site

Child maltreatment

• See Child Maltreatment
• Inconsistent/inappropriate explanations for the child’s presentation (e.g. fractures in non-mobile infants)
• Associated injuries and bruising, delay in presentation, frequent attendances to hospital, recurrent trauma
• Features of neglect (e.g. unhygienic), behaviours inconsistent with the child’s age/development (e.g. fearful and withdraw, overly friendly, overly comforting in distress, inappropriate sexual behaviour)
• Fractures associated with non-accidental injury include:
  • Fractures in immobile children – toddler’s fractures can only happen if the child ‘can toddle’
  • Rib fractures in the absence of major trauma
  • Multiple fractures – falling down stairs rarely causes multiple injuries
  • Fractures at different stages of healing
  • ‘Corner’ or bucket handle fractures
  • Transphyseal fractures of the distal humerus or proximal femur
  • Femoral and humeral fractures in <18 months old

Reactive arthritis

• There may be a preceding gastrointestinal or sexually transmitted infection (remember child maltreatment may be possible)
• “Can’t see (eye involvement), pee (urethritis), or climb a tree (arthritis)”:
  • Arthritis – usually an asymmetrical oligoarthritis affecting larger joints of the lower extremity
  • Urethritis
  • Eye involvement – conjunctivitis, anterior uveitis, episcleritis 
• Other features include skin involvement – circinate balanitis, keratoderma blennorrhagia, enthesitis, and dactylitis 

Osteomalacia and rickets

• There may be poor sunlight exposure, malabsorption, chronic kidney disease
• Rickets – painful bones and joints, genu varum or genu valgum, painful wrist swelling, painful swelling of costochondral junctions (rachitic rosary), craniotabes (skull softening, frontal bossing, delayed fontanelle closure), delayed tooth eruption
• Osteomalacia – bone and muscle pain, proximal muscle weakness, waddling gait
• Some investigations include:
  • Serum 25-hydroxyvitamin D levels:
    • Low
  • Serum calcium and phosphate:
    • Calcium – decreased
    • Phosphate – may be decreased
  • Serum parathyroid hormone (PTH):
    • May be elevated
  • X-ray of long bones:
    • May show a widening of the growth plate

Bone and soft tissue sarcoma

• Bone sarcoma:
  • Unexplained persistent bone pain, pain that is worse at night and persists despite rest
  • Unexplained bone swelling
• Soft tissue sarcoma:
  • Unexplained lump that is increasing in size
• Constitutional symptoms may be present
• Referral:
  • Suspected bone sarcoma – very urgent X-ray (within 48 hours)
  • Suspected soft tissue sarcoma – very urgent ultrasound (within 48 hours)

Leukaemia

• Fatigue, malaise, bruising
• Hepatosplenomegaly
• Joint and bone pain
• Constitutional symptoms
• Some investigations include:
  • Full blood count (FBC) and blood film:
    • May show anaemia, reduction/increases in certain cell lineages
    • Blood film may show blasts
  • Bone marrow biopsy:
    • Diagnostic

Sickle cell disease

• Can cause:
  • Avascular necrosis of the hip – progressive hip pain and limitation in movement
  • Osteomyelitis – see above
  • Stroke – weakness, paraesthesia, visual field defects etc.
  • Acute crises in the hands and/or feet – pain, swelling, warmth, and tenderness of affected extremity 
• Some investigations include:
  • Full blood count (FBC):
    • Varying levels of anaemia are seen
  • Reticulocyte count:
    • Usually elevated but may be reduced in aplastic crises/bone marrow infarction
  • Blood film:
    • Sickle-shaped cells are seen
    • Howell-Jolly bodies are seen – due to hyposplenism
  • Unconjugated (indirect) bilirubin:
    • Raised in a haemolytic crisis
  • Serum haptoglobin:
    • Reduced in haemolysis – haptoglobin binds to free haemoglobin which is released in haemolysis
  • Haemoglobin electrophoresis:
    • The definitive test

Haemophilia

• X-linked recessive, more common in boys
• Haemarthrosis – bleeding into joints causing severe joint pain and swelling
• Recurrent/severe bleeding, epistaxis, and gum bleeding
• Easy bruising
• Some investigations include:
  • Full blood count (FBC):
    • Usually normal, there can be anaemia if there is severe/prolonged bleeding
  • Coagulation screen:
    • Activated partial thromboplastin time (APTT): prolonged
  • Factor VIII and IX assay:
    • Factor VIII reduced in haemophilia A
    • Factor IX reduced in haemophilia B

Juvenile idiopathic arthritis

• Seen in children <16 years old and persists for >6 weeks
• Oligoarticular form is most common – <5 joints affected
• Joint pain, swelling, and stiffness – usually asymmetric and large joints (knees, ankles, wrists, and elbows)
• In the systemic-onset form, a salmon-pink rash and lymphadenopathy may be seen
• Some investigations include:
  • Full blood count (FBC):
    • May show anaemia
  • ESR:
    • May be elevated

Lyme disease

• There may be a history of a tick bite followed by erythema migrans up to 4 weeks later
• Joint pain is the second most common feature and usually affects the knees
• Fever, lethargy, malaise, and headaches may be present
• Some investigations include:
  • Clinical diagnosis if erythema migrans is present – start treatment
  • Borrelia burgdorferi serology:
    • Positive

Charcot-Marie-Tooth disease (CMT)

• Family history present
• Frequent slipping, falling, tripping, and spraining
• Pes cavus, hammer toes, foot drop may be present
• Stork leg or inverted champagne bottle appearance may be seen
• Lower motor neurone signs
• Some investigations include:
  • Nerve conduction studies:
    • Performed in any patient with suspected neuropathy
    • Low or mildly-slowed/normal conduction velocities may be seen
  • Genetic testing may be considered

Muscular dystrophy (Duchenne’s and Becker’s disease)

• More common in boys
• Not walking by 18 months is a red flag
• Gower’s sign present
• Pseudohypertrophy of the calf, tongue, deltoid, and quadriceps
• Proximal muscle weakness
• In Becker’s muscular dystrophy, symptoms tend to progress more slowly and are less severe
• Some investigations include:
  • Serum creatine kinase (CK):
    • Elevated – due to muscle breakdown
  • Genetic testing:
    • Has now replaced muscle biopsy and identifies Xp21 mutations which correlate to the dystrophin gene

Appendicitis

• Appendicitis starts with central abdominal pain that localises to the right iliac fossa
• There may be associated fever, anorexia, nausea, and vomiting
• Acute appendicitis is rare in infants
• Some investigations include:
  • Full blood count (FBC):
    • Leukocytosis may be present
  • C-reactive protein (CRP):
    • May be elevated
  • Urine dipstick test:
    • May show leukocytes
  • Ultrasound scan:
    • Diagnostic

Testicular torsion

• Acute testicular pain – may be intermittent as spontaneous detorsion can occur
• Nausea, vomiting
• Absent cremasteric reflex
• Prehn’s sign negative – elevating the testis does not alleviate pain
• Some investigations include:
  • Testicular ultrasound
    • Diagnostic