Orthopaedics, genetics, ENT, skin, eyes Flashcards

1
Q

Red flags in limping child?

A

Night time wakening, night sweats, fatigue, anorexia, weight loss -> malignancy.

Redness or swelling of fever -> infection.

Unexplained rash, early morning pain/stifness -> inflammatory bone disease

Unexplained bruising -> NAI, haematological disease.

Severe pain or agitation following traumatic injury -> ?compartment syndrome.

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2
Q

Examination of limping child?

A

Carry out Paediatric Gait, Arms, Legs and spine assessment.

Gait pattern
Deformity or swelling
Erythema or warmth
Brusing
Limb length discrepancy
Signs of hypermobility
Systemic features - tachycardia, fever, pallor, lymphadenopathy, eye problem, rash.
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3
Q

Investigations for limping child?

A

FBC, CRP, ESR, blood culture

Imaging - plain XR, USS, CT, MRI

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4
Q

What is developmental dysplasia of hip and risk factors?

A

Spectrum of hip instability, ranging from dislocated hip to hips with various degrees of acetabular dysplasia (shallow acetabulum).

Risk factors:
Female
Breech presentation
Positive FH
Firstborn children
Oligohydramnios
Birth weight >5kg
Congenital calcaeneovalgus foot deformity.
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5
Q

Features of developmental dysplasia of the hip?

A
More common in left hip, 20% bilateral.
Delayed walking
Painless limp
Waddling gait
Asymmetrical skin creases in 30% of cases.
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6
Q

Screening of developmental dysplasia of the hip?

A

Screened at birth and 6 week check.

Barlow - backward pressure applied to each femoral head to see if it dislocates
Ortolani - forward pressure applied to attempt to relocate dislocated hip.

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7
Q

What do you find on examination of developmental dysplasia of hip?

A

Shortened femur (allis sign), and limited abduction.

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8
Q

How to diagnose developmental dysplasia of hip and how to manage?

A

USS to confirm.

Most stabilise spontaneously by 3-6 weeks of age.
Pavlik harness in children younger than 4-5 months.

Older children may require surgery - open reduction and derogation femoral osteotomy for children with delayed diagnoses. May require total hip replacement in early childhood.

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9
Q

Where in the bone does osteomyelitis commonly start?

A

Metaphysis due to relative stasis of blood.

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10
Q

Most common causes of osteomyelitis?

A

Neonates - E. coli, Group B strep.
Staph aureus most common in all age groups.
Sickle cell - Salmonella

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11
Q

Features of Rickets?

A
Vitamin D deficiency.
Leg bowing
Craniotabes
Enlarged metaphyses
Enlarged costochondral junction
Misery
Hypotonia
Developmental delay
Growth faolire
Late eruption of teeth
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12
Q

Causes of rickets?

A
Due to inadequate sun exposure:
Infants with pigmented skin
Full coverage with religious garments
Urban living conditions
Winter
Inherited abnormalities of vitamin D metabolism
Mineral deficiency
Chronic renal disease
Renal osteodystrophy
Rickets of prematurity
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13
Q

Diagnosis and management of rickets?

A

Wrist X-ray - cupping/fraying of metaphysis and widened metaphyseal plate
Reduced calcium
Reduced phosphate
Increased PTH and ALP.

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14
Q

Features and examination of transient synovitis?

A

Common, self-limiting, occurs between 2-10 years, following viral infection.

Sudden onset of pain
Limp
Refusal to bear weight on affected side
No pain at rest
Most common cause of hip pain in children

Limited passive abduction and rotation in otherwise well and afebrile child.

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15
Q

Diagnosis and management of transient synovitis?

A
Diagnosis of exclusion
Acute phase reactants - WBC, CRP, ESR
Blood cultures - negative in transient synovitis
Joint aspiration if still in doubt
X-ray not usually required.

Supportive, resolves in 2 weeks.
Safety net
Analgesia (NSAIDs)
Review in 48 hours to check symptoms are resolving
Review in 7 days from onset to check symptoms have resolved
Undertake Ix (bloods, XR) if uncertain of diagnosis or any red flags.

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16
Q

Features of Juvenile Idiopathic Arthritis?

A

Arthritis occurring in someone <16 years, lasts for more than 6 weeks.

Systemic JIA:

  • children <5 years
  • symmetrical arthritis of knees, wrist, ankles and tarsals
  • systemic features - fever, spikes, rash, lymphadenopathy, myalgia
  • Worst prognosis in younger age.

Polyarticular JIA:

  • 5 or more joints
  • RF positive.
Oligoarticular JIA:
- young girls <6 years
Asymmetric arthritis of knees, ankles, elbows.
- ANA positive vs negative
- Associated with anterior uveitis.

Psoriatic JIA

Enthesitis-related JIA

Features - 
Joint pain and swelling - usually of medium joints (elbow, knee, ankle)
Limp
ANA positive
Salmon-pink rash
Arthritis
Anorexia and weight loss.
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17
Q

Diagnosis of JIA

A
FBC - anaemia
Acute phase reactants raised
RF negative usually
ANA positive usually
X-rays - soft tissue swelling in early stages, bony erosions and loss of joint space later.
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18
Q

Management of JIA?

A

Physiotherapy
Analgesia
DMARDS - corticosteroids, methotrexate, biological agents.

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19
Q

Features of Perthe’s disease?

A

Age 4-8
Avascular necrosis of femoral head, specifically femoral epiphysis.
M>F 10% bilateral.

Hip pain - develops progressively over a few weeks
Limp
Stiffness and reduced range of hip movement
X-ray - early changes include widening of joint space, later changes include decreased femoral head size/flattening.

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20
Q

Diagnosis, management and complications of Perthe’s disease?

A

Plain X-ray
Technetium bone scan or MRI if normal X-ray and symptoms persist.

Cast and braces to keep femoral head within acetabulum.
Observe in age <6
Older - surgical management with moderate results
Operate on severe deformities.

Complications - osteoarthritis, premature fusion of growth plates.

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21
Q

Staging of Perthe’s disease?

A

Catterall staging

1 - clinical and histological features only
2 - sclerosis with or without cystic changes and preservation of articular surface
3 - loss of structural integrity of femoral head
4 - loss of acetabular integrity

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22
Q

Features of reactive arthritis?

A

Arthritis that develops following infection where organism can’t be recovered from joint.
Post-STI - chlamydia trachomatis
Post-dysenteric illness - shigella, salmonella, campylobacter

Reiter’s syndrome - urethritis, conjunctivitis, arthritis.

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23
Q

Management of reactive arthritis?

A

Analgesia - NSAIDs, intra-articular steroids.
Sulfasalazine and methotrexate sometimes used for persistent disease
Symptoms rarely last >12 months.

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24
Q

Features and causes of scoliosis?

A

Sidewards curvature of spine occurring most often during growth spurts just before puberty.

Causes - Cerebral palsy, muscular dystrophy, mostly unknown causes.

Features - uneven shoulders, one shoulder blade appears more prominent than the other, uneven waist, one hip higher than the other.

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25
Q

What is torticollis?

A

Wry neck
Painfully twisted and tilted neck
Top of head generally tilts to one side while chin tilts to other side
Congenital or acquired
Also due to damage of muscles or blood supply to neck.

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26
Q

Features of Osgood Schlatters Disease?

A

Stress from exercise at same time as growth of epiphyseal plate leads to inflammation of tibial epiphyseal plate.
Ultimately leads to growth of tibial tubercle (causing visible bump).
10-15 years. M>F.
Unilateral usually.

Visible/palpable hard tender bump.
Pain at knee (over bump)
Pain worse following exercise.

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27
Q

Management and prognosis of osgood Schlatters disease?

A

Reduction in physical activities that put stress on knees.
Rest
NSAIDs
ICE
Stretching and physiotherapy once symptoms settle

Pain usually intermittent and triggered by activity
Pain settles once growth ceases and plates fuse
Bump usually remains as hard boney lump
Rare complication is avulsion features where tibial tuberosity is separated by patella tendon from the rest of the knee, and usually requires surgical intervention.

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28
Q

Features of Down’s syndrome?

A
Face - round/flat face, protruding tongue, up slanting palpebral fissures, small low-set ears, brushfirld spots in iris, epicanthic folds.
Flat occiput
Single palmar crease
Sandal gap between big and first toe
Hypotonia
Congenital heart defects - endocardial cushion defect, VSD, secundum ASD, ToF, isolated PDA.
Duodenal atresia
Hirschsprung's disease.
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29
Q

Later complications of Down’s syndrome?

A
Subfertility
Learning difficulties
Short stature
Repeated respiratory infections
ALL
Hypothyroisism
Alzheimers disease
Atlantoaxial instability
Visual problems - myopia, strabismus, cataracts.
30
Q

Cytogenetics of Down’s syndrome?

A

Trisomy 21
94% due to non-disjunction
5% due to Robertsonian translocation
1% due to mosaicism

31
Q

Antenatal screening for Down’s syndrome?

A

Combined first line (11 - 13+6 weeks):
- nuchal translucency (thickness of >6mm), serum b-hCG (higher), PAPPA (lower).

Late bookers - triple or quadruple test (15-20 weeks).

  • AFP (lower), b-hCG (higher), serum estriol (lower).
  • Add inhibin-A for quadruple test.
32
Q

Antenatal testing for Down’s syndrome?

A

If risk greater than 1 in 150, woman offered amniocentesis or chorionic villus sampling.

  • Chorionic villus sampling done before 15 weeks.
  • Amniocentesis done later in pregnancy once enough amniotic fluid makes it safer to take sample.
33
Q

Features of Turner’s syndrome?

A

45XO or 45X
Life expectancy close to normal.

Short stature
Delayed puberty (primary amenorrhoea)
Raised gonadotrophin levels
Shield chest, widespread nipples
Webbed neck
Bicuspid aortic valve
Coarctation of aorta
Cystic hygroma
High-arched palate
Short fourth metacarpal
Multiple pigmented naevi
Lymphoedema in neonates (especially feet)
Gonadotrophin levels will be elevated
Hypothyroidism.
34
Q

Management of Turner’s syndrome?

A

Monitor complications
Growth hormone therapy can be used for short stature
Oestrogen and progesterone replacement can help establish female secondary sex characteristics, regulate menstrual cycle and prevent osteoporosis.
Fertility treatment can increase chances of becoming pregnant.

35
Q

Features of Duchenne Muscular Dystrophy?

A

X-linked recessive - affects males.
Frameshift mutation.
Progressive proximal muscle weakness from 5 years.
Calf pseudo hypertrophy
Gower’s sign - child uses arms to stand up from squatted position.
30% have intellectual impairment
Sensation and reflexes are normal.

36
Q

Prognosis of Duchenne Muscular Dystrophy?

A

Steady decline from age 6
Wheelchair bound by 12
Breathing and heart problems in late teens
Unusual to live past 30

37
Q

Becker’s muscular dystrophy?

A

Non-frameshift - so less severe.
Develops from age 10
Intellectual impairment less common.

38
Q

What is achondroplasia and features?

A

Autosomal dominant disorder associated with short stature.

Short limbs with shortened fingers.
Large head with frontal bossing and narrow foramen magnum.
Midface hypoplasia with flattened nasal bridge
Trident hands
Lumbar lordosis.

Risk factor - advancing age

39
Q

Treatment of achondroplasia?

A

No specific treatment.

Some benefit from limb lengthening procedures.

40
Q

Features of fatal alcohol syndrome?

A

Baby may show symptoms of alcohol withdrawal at birth, eg irritable, hypotonic, tremors.

Short palpebral fissure
Thin vermillion border/hypoplastic upper lip
Smooth/absent filtrum
Learning difficulties
Microcephaly
Growth retardation
Epicanthic folds
Cardiac malformations
41
Q

Features of Marfan Syndrome?

A

Autosomal dominant - mutation in fibrillin.

Tall stature, long neck, long limbs and digits, high arch palate, hypermobility, pectus carinatum/pectus excavatum.

42
Q

Associated conditions with Marfan syndrome?

A
Lens dislocation (in the eye)
Joint dislocation and pain
Scoliosis of spine
Pneumothorax
Pectus carinatum/pectus excavatum
Mitral valve prolapse
Aortic valve prolapse
Aortic aneurysms.
43
Q

Management of Marfan syndrome?

A

Minimise BP and HR to reduce stress on heart and risk of developing cardiac complications.
Lifestyle changes (avoid intense exercise)
Long term medications - beta blockers, ARBs
Pregnancy also has to be carefully considered as it carries significant risk of developing aortic aneurysms and associated complications.
Regular follow ups usually by cardiologists, and complications are treated when they arise.
Genetic counselling

44
Q

Features of PKU?

A

Autosomal recessive
Defect in phenylalanine hydroxylase, which converts phenylalanine to tyrosine.
High levels of phenylalanine.

Usually presents by 6 months - developmental delay.
Child classically has fair hair and blue eyes.
Learning difficulties
Seizures, typically infantile spasms
Eczema
Musty odour to urine and sweat.

45
Q

Diagnosis of PKU?

A

Neonatal heel prick test - 5-9 days.
Hyperphenylalaninaemia.
Phenylpyruvic acid in urine.

46
Q

Management of PKU?

A

Dietary restrictions are important during pregnancy as genetically normal foetuses may be affected by high maternal phenylalanine levels - milk, dairy products, meat, fish, chicken, eggs, beans and nuts.

47
Q

Difference in symptoms between preseptal and orbital cellulitis?

A

Orbital cellulitis - pain on movement of eye, restriction of eye movement, proptosis, visual disturbance, chemises, RAPD.

48
Q

Hearing tests in children based on age group?

A

Newborn - otoacoustic emission test (if abnormal - auditory brainstem response test)

6-9 months - distraction test

18months - 2.5 years - recognition of familiar objects

> 2.5 years - performance testing

> 2.5 years - speech discrimination tests

> 3 years - pure tone audiometry

49
Q

Features of eczema based on age groups?

A

Face and trunk in infants.
Extensor surfaces in younger children.
Flexor surfaces and creases of face and neck in older children.

50
Q

What is infantile seborrheic eczema? Treatment?

A

Commonly presents in first 2 months of life.
Non-itchy, erythematous rash with coarse yellow scales initially on scalp (cradle cap).
Might spread to face, flexures and nappy area.

Treatment:

  • often resolves spontaneously around 8 months.
  • mild-moderate - baby shampoo and baby oils/emollients
  • severe - mild topical steroids (eg hydrocortisone)
51
Q

Features of Napkin dermatitis? Management?

A

Rashes in nappy area, due to irritant contact dermatitis, candidiasis, seborrheic dermatitis.

Nappy rash:
- prolonged contact of urine or faeces with skin
- skin red, moist and might ulcerate
- inguinal folds are spared
- prevention - frequent nappy changes, and barrier creams.
Exposure to air can make recovery quicker.

Candidiasis:

  • bright red skin with satellite lesions and involvement of inguinal skin folds
  • treated with topical or oral antifungals (eg imidazole)
52
Q

Features of Varicella Rash (chickenpox)?

A

Caused by varicella zoster virus
Highly infectious. Period of infectivity is 2 days before eruption of rash until all lesions have crusted over.

Brief coryzal period followed by eruption of itchy rash.
Progression of rash - macule, vesicle, crusting over.
Rash starts on scalp or trunk and then spreads.

53
Q

Management of chickenpox?

A

Symptomatic treatment

Aciclovir for severe chickenpox or if immunosuppressed.

54
Q

When would you give varicella zoster immunoglobulin?

A

In immunosuppressed children exposed to virus.

Neonates if mother develops chickenpox/shingles in 7 days before or after birth.

55
Q

Complications of chickenpox?

A

Conjunctival lesions

Encephalitis (presenting as ataxia)

56
Q

What are the 6 viral exanthemas?

A

1 - measles
2 - scarlet fever
3 - Rubella
4 - Duke’s disease
5 - Parvovirus B19 (slapped cheek syndrome or erythema infectiosum)
6 - Still mostly called sixth disease but aka Roseola Infantum.

57
Q

Features and management of measles?

A

Symptoms start 10-12 days after exposure.
Fever, coryzal symptoms and conjunctivitis.
Koplik spots - greyish white spots on buccal mucosa - appear 2 days after fever and are pathognomonic for measles.
Rash starts on face (classically behind ears) 3-5 days after fever and then spread to rest of body.
Characterised by erythematous, macular rash.
Self-resolving after 7-10 days.

Isolate children until 4 days after symptoms resolve.

58
Q

Complications of measles?

A

Otitis media, diarrhoea, pneumonia, encephalitis, blindness.

59
Q

Features and treatment of scarlet fever?

A

Group A strep infection, usually of tonsils or skin.
2-6 years of age with peak at 4.
Characterised by red-pink, blotchy, macular rash with rough (sandpaper) skin that starts on trunk and spreads outwards, strawberry tongue.
Red, flushed cheeks.

Diagnosis - throat swab taken but abx treatment should be commenced immediately, rather than waiting for results.

Treatment:
Oral pen V for 10 days.
Azithromycin if pen allergic.

Can return to school 24 hours after commencing abx.

Notifiable disease.

60
Q

Features and complications of rubella?

A

Togavirus
symptoms start 2 weeks after exposure. Winter and spring most common.

Prodrome - low grade fever
Rash - maculopapular, initially on face before spreading to whole body, usually fades by 3-5 days.
Lymphadenopathy - sub occipital and post auricular.

Complications:

  • arthritis
  • thrombocytopenia
  • encephalitis
  • myocarditis
61
Q

What are the triad of features in congenital rubella syndrome?

A

Deafness
Blindness
Congenital heart disease

62
Q

Features of parvovirus B19 and treatment?

A

Mild fever
Noticeable rash - rose-red makes cheeks appear bright red.
Rash can spread to rest of body but unlike many other rashes, rarely involves palms and soles.
Warm bath, sunlight, heat, fever will trigger rash.

No specific treatment.

School exclusion not necessary as not infectious as rash appears.

In adults - acute arthritis.

Can get aplastic crisis - eg in sickle cells disease.

63
Q

Features and management of roseola infantum?

A

Common disease of infancy caused by human herpes virus 6 (HHV6).
Incubation period of 5-15 days.

High fever - lasting few days followed by:

  • maculopapular rash - not itchy
  • nagayama spots - papular enanthem on uvula and soft palate.
  • febrile convulsions occur in around 10-15%
  • Diarrhoea and cough are commonly seen.

School exclusion not needed.

64
Q

Consequence of HHV6 infection?

A

Aseptic meningitis

Hepatitis

65
Q

Features and management of hand, foot and mouth disease?

A

Self-limiting condition.
Caused by coxsackie A16 and enterovirus 71.
Very contagious.

Mild systemic upset - sore throat, fever
Oral ulcers
Followed later by vesicles on palms and soles of feet.

Symptomatic treatment only - general advice about hydration and analgesia.
Reassurance no link to disease in cattle.
Children do not need to be excluded from school once they feel better.

66
Q

Causes of conductive and sensorineural deafness?

A
Conductive hearing loss:
Secretory otitis media (glue ear)
Wax
Foreign body
Down's syndrome 
Sensorineural:
Hereditary - eg Alport
Congenital infection - TORCH
Perinatal hypoxia and cerebral palsy 
Neonatal jaundice (kernicterus)
Acquired - meningitis, head injury, ototoxic drugs.
67
Q

Features, causes and management of staphylococcal scalded skin syndrome?

A

Potentially life-threatening, toxin-mediated manifestation of localised skin infection.
<5 years of age.

Develops within few hours/days, may be worse over face, neck, axillar and groins.
Scald-like skin appearance, followed by large flaccid bullae
Perioral crusting
Intraepidermal blistering
Painful lesions
Sometimes eruption more localised
Recovery usually within 5-7 days.

Causes:

  • production of circulating epidermolytic toxin from phase group II, benzylpenicillin-resistant (coagulase positive) staph.
  • toxins cause disruption of epidermal granular cell layer, which causes blistering.

Mangement:

  • fluid balance
  • Gentle cleansing and moisturising of skin
  • Pain killers
  • IV flucloxacillin/fusidic acid/erythromycin.
68
Q

Features, diagnosis and management of headlice?

A

Caused by Pediculus Capitus, which lives on and among hair of scalp of humans.
Found further along hair shaft as they grow out.
Cases have no symptoms but itching and scratching on scalp occurs 2 to 3 weeks after incubation.

Diagnosis - fine-toothed combing of wet or dry hair.

Management:

  • Only treat if living lice are found.
  • Choice of treatment should be offered: Malathion, dimeticone, wet combing, isopropyl myristate and cyclomethicone.

School exclusion not advised.

69
Q

Management of ringworm?

A

Tinea capitus:

  • terbinafine for trichophyton tonsurans infections
  • griseofulvin for microsporum infections
  • topical ketoconazole shampoo given for first two weeks to reduce transmission.

Tinea corporis:
- oral fluconazole

70
Q

Management of scabies?

A

Permethrin first line
Malathion second line

Avoid close contact with others until treatment complete.
All household and close physical contacts should be treated at same time, even if asymptomatic.
Launder, iron or tumble dry clothes, bedding, towels on first day of treatment to kill off mites.

Pruritis persists for up to 4-6 weeks post eradication.