Paeds Flashcards
O/E Ventricular septal defect
Pansystolic murmur in lower left sternal border
O/E coarctation of the aorta
Crescendo-decrescendo murmur in the upper left sternal border
O/E patent ductus arteriosus
Diastolic machinery murmur in the upper left sternal border
O/E pulmonary stenosis
Ejection systolic murmur in the upper left sternal border
O/E atrial septal defects
Ejection systolic murmur in the pulmonary area and fixed splitting to the second heart sound
Which childhood syndrome is associated with microcephalic, small eyes, cleft lip/palate, polydactyly, and scalp lesions?
Patau syndrome (trisomy 13)
Which childhood syndrome is associated with micrognathia, low-set ears, rocker bottom feet, and overlapping of fingers?
Edward’s syndrome (trisomy 18)
Which childhood syndrome is associated with learning difficulties, macrocephaly, long face, large ears, and macro-orchidism?
Fragile X
Which childhood syndrome is associated with webbed neck, pectus excavatum, short stature, and pulmonary stenosis?
Noonan syndrome
Which childhood syndrome is associated with micrognathia, posterior displacement of the tongue, and cleft palate?
Pierre-Robin syndrome
Which childhood syndrome is associated with hypotonia, hypogonadism, and obesity?
Prader-Willi syndrome
Which childhood syndrome is associated with short stature, learning difficulties, friendly personality, transient neonatal hypercalcaemia, and supravalvular aortic stenosis?
William’s syndrome
Which childhood syndrome is associated with a distinct cry, feeding difficulties and poor weight gain, learning difficulties, microcephaly and micrognathism, and hypertelorism?
Cri du chat syndrome (chromosome 5p deletion syndrome)
Which childhood syndrome is associated with the following heart defect?
a) Supravalvular aortic stenosis
b) Bicuspid aortic valve
c) Pulmonary stenosis
d) Atrioventricular septal defect
a) William’s
b) Turner’s
c) Noonan
d) Down’s
Developmental milestone red flags at any age
Maternal concern
Discrepancy
Regression
Developmental milestone red flags at birth
Asymmetric moro
Absent red reflex
Failed neonatal hearing test
Developmental milestone red flags by 10 weeks
No head control
No smiles
Developmental milestone red flags by 6 months
Primitive reflex
Hand preference
Squint
Minimal response to people, toys or noise
Developmental milestone red flags by 12 months
No sitting
Double babble
Pincer grasp
Developmental milestone red flags by 18 months
Not walking
< 5 words
Mouthing
Drooling
Developmental milestone red flags by 36 months
No 2 word phrases
Not interactive
HEADSSS assessment
Home Environment Education Activities Drugs and alcohol Sexuality/Sex Self-harm/suicide Safety
What are common innocent murmurs?
Systolic ejection murmur
Venous hums
Vibratory murmur
Compare characteristics of innocent and pathological murmurs
Innocent
- systolic
- musical quality
- no radiation
- varies in intensity w posture and respiration
- asx
- normal peripheral pulses
Pathological
- pansystolic or diastolic
- harsh/long
- thrill, radiation or cardiac sx always indicate pathological
What clinical features would you expect in a ventricular septal defect?
Loud hard pansystolic murmur at sternal border, radiating all over chest
Severe: heart failure, breathlessness on feeding and crying, failure to thrive, recurrent chest infections
What clinical features would you expect in an atrial septal defect?
Soft systolic murmur in second left intercostal space, wide fixed splitting of the second sound
High flow through pulmonary valve causes systolic murmur
Breathlessness, tiredness on exertion, recurrent chest infections
What clinical features would you expect in aortic stenosis?
Systolic ejection murmur at right upper sternal border, radiating to neck and down left sternal border
Exercise-induced dizziness
Loss of consciousness in minority of older children
What clinical features would you expect in coarctation of the aorta?
Systolic murmur over the left side of the chest, especially at the back
Absent/delayed weak femoral pulses
Hypertension in arms
What clinical features would you expect in pulmonary stenosis?
Systolic ejection murmur over the upper part of left chest anteriorly and conducted ot the back, usually preceded by an ejection click
Associated w cyanosis if > mild
What clinical features would you expect with patent ductus arteriosus?
Pansystolic murmur in neonates
Continuous murmur after 3 months of age
Collapsing pulse
Three ddx of syncope with normal EEG findings
Syncopal attacks
- blurred vision, lightheaded, sweating, nausea
- helps to lie down
- prolonged standing, painful/emotional stimulus precipitates it
Hyperventilation
- excessive deep breathing
- breath into paper bag to resolve
- excitement precipitates it
Hysterical seizures
- gradual onset, asynchronous flailing movements
- no incontinence or postictal state
- often triggered by emotional stimulus
Compare the impact on the heart of the following cardiac problems:
a) atrial septal defect
b) ventricular septal defect
c) aortic stenosis
d) coarctation of the aorta
e) pulmonary stenosis
f) transposition of the great vessels
g) fallot’s tetralogy
a) high flow through the pulmonary valve causes systolic murmur
b) blood flows through defect to right side of heart leading to pulmonary HTN, cardiomegaly, and prominent pulmonary arteries
c) stenosis causes enlargement of the left ventricle and prominence of the ascending aorta
d) blood flow to the lower limbs is maintained through a patent ductus arteriosus
e) right ventricle hypertrophies to overcome obstruction presented by stenosis of pulmonary valve
f) pulmonary artery arises from left ventricle and aorta from the left, open ductus allows mixing of the blood
g) pulmonary stenosis, ventricular septal defect w shunt, overriding aorta, right ventricular hypertrophy
In which congenital lesion must strenuous activity be avoided?
Aortic stenosis
High risk of sudden death
Emergency treatment of severely cyanosed child w poor systemic circulation
IV prostaglandin
- maintain ductus open
Balloon septostomy
- improve mixing of blood within the heart
Four characteristics of Fallot’s tetralogy
- Ventricular septal defect
- Overriding of the aorta
- Infundibular pulmonary stenosis
- Right ventricular hypertrophy
Which pts are at risk of infective endocarditis?
Congenital heart disease
Indwelling central venous catheter
4 yr old with background of atrial septal defect presents with 1/52 fever and 1/7 petechiae and splinter haemorrhages
O/E changing murmur, hepatosplenomegaly
What is causing this and how should it be treated?
Infective endocarditis
- strep, staph main organisms
IV abx given over 4-8 weeks
How should a 14 year old girl presenting w syncope be managed?
History
- before/during/after syncope
- any unpleasant stimulus/prolonged standing
Cardiac examination
- including standing + lying BP
Any doubt about fall
- further ECG
Reassure very common in teenage girls due to:
- emotional/painful stimulus
- poor vasomotor reflexes
What investigations could you order for diagnosing and leg pain and what could they indicate?
FBC, WCC
- leukaemia
- infections
- collagen vascular disease
Plasma viscosity
- infections
ESR
- collagen vascular disease
CRP
- IBD
- tumours
X-ray
- bone tumours
- infection
- trauma
- avascular necrosis
- leukaemia
- slipped capital femoral epiphysis
Bone scan
- osteomyelitis
- stress fractures
- malignant tumours
Muscle enzymes
- damage to muscle cells
Compare characteristics in leg pain due to organic vs non-organic causes
Organic
- day and night persists
- interrupts play
- unilateral
- located in joint
- limp/refuses to walk
- systemic features
- O/E point tenderness, redness, swelling, limited movements, muscle weakness/atrophy, fever, rash, pallor, lymphadenopathy, organomegaly
Non-organic
- only at night
- primarily school days
- no interference w normal activities
- located between joints
- bilateral
- normal gait
- otherwise healthy child
- normal exam/minor changes such as coolness/mottling of leg
Investigations for a child with swollen joints and their relevance
FBC
- high WCC, left shift = bacterial infection
- anaemia in collagen vascular disease, IBD, malignancy
- haemoglobinopathy features
ESR + plasma viscosity
- elevated in bacterial infection, collagen vascular disease, IBD
Blood culture
- +ve septic arthritis
ASO titre
- indicative of strep infection = reactive arthritis
Viral titres
- viral arthritis
Rheumatoid factor, antinuclear antibodies
- -ve in most forms of juvenile chronic athritis
X ray
Joint aspiration
- microscope + culture for ?septic arthritis
Causes of abnormal gait
Common
- flat feet
- intoeing
- bow legs and knock-knees
- toe walking
Less common
- congenital dislocation of hip
- cerebral palsy
Name two paediatric forms of joint trauma
Pulled elbow/’nursemaid’s’ elbow
- sudden forceful traction on arm dislocates elbow
- toddler group, don’t complain but refuse to use arm/hold in flexed position
- simple supinate arm fully to click head of ulnar back into place
Fracture of the growth plate
- most vulnerable structure in joint is growth plate > ligamentous sprain
- still present w swelling, not seen easily on X ray
- immobilise joint for few weeks
6 yr old comes in w 4/7 fever and 2/7 swollen knee
O/E swelling and redness at site, temperature 37.9
IX sterile aspirate, high WCC and ESR
What likely caused this and how should we treat?
Osteomyelitis
- Staph aureus
- Haem influenzae
- Strep pyogenes
Long bones infected, get sympathetic effusion of adjacent joint
High-dose abx for 4 weeks
Surgical exploration and drainage if no response to abx
Complications of osteomyelitis
Irreversible bone necrosis
Draining sinuses
Limb deformity
What clinical features would you expect in transient synovitis?
Sudden onset limp w hip and/or knee pain
Mild UTI/viral infection precedes sx
Limited abduction, extension + internal rotaion of hip
Lack of systemic sx
Normal WCC, ESR, hip X ray
Most common organisms causing septic arthritis
Staph aureus
Haem influenzae
blood-borne
What would the ix show in septic arthritis?
Elevated WCC, ESR, CRP
X ray shows widening of joint space due to fluid accumulation, adjacent osteomyelitis
Aspiration of joint sent for urgent microscopy + culture, fluid is purulent with organisms found on gram’s stain
Tx for septic arthritis
IV flucloxacillin + penicillin/cephalosporin
Splint joint in acute stage
Switch to oral abx as systemic sx settle
Pain subsided, physiotherapy to encourage full joint mobility + avoid joint flexion deformities
8 yr old boy presents w pain in left hip and limp for 1/52
X ray shows increased density, flattening and fragmentation of left capital femoral epiphysis
What this and its tx?
Legg-Calve-Perthes disease/avascular necrosis of femoral head
Tx includes bracing or traction and recovery may take 2-3 years
12 yr old obese boy presents w pain in knee, gradually increasing over last week
What is likely seen on examination and X ray?
O/E hip held in abduction and external rotation with limitation of internal rotation
X ray shows slipped capital femoral epiphysis
What are the three presentations of juvenile idiopathic arthritis?
Systemic (M>F)
- large and small joints affected
- remitting fever, variable rash, anaemia, wt loss, abdo pain, hepatosplenomegaly
Polyarticular (F>M)
- large and small joints affected
- morning stiffness common
- symmetrically distributed
- sometimes poor wt gain and mild anaemia
Pauciarticular (F>M)
- <5 joints, usually large
- chronic iridocyclitis
What ix would you see in juvenile idiopathic arthritis?
Elevated ESR and WCC
Anaemia
RhF negative
ANA negative in systemic
ANA positive possible in poly-, pauciarticular
X ray: soft tissue swelling, periostitis, early loss of cartilage, bone destruction + fusion
How do you manage juvenile idiopathic arthritis?
NSAIDs for inflammation
Corticosteroids for severe systemic disease (avoid repeated steroid injections into joint)
Physio- and occupational therapy
Psychosocial support for child and family
Causes of anaemia/pallor in childhood
Common
- iron deficiency anaemia
- thalassaemia trait
Uncommon
- lead poisoning
- haemolysis, i.e. thalassaemia major, sickle cell
- chronic infection
- chronic renal failure
- malignancy, i.e. leukaemia
What ix would you do in a child with anaemia who is ill or unresponsive to iron treatment?
FBC Blood film Ferritin Lead level - check for toxicity Haemoglobin electrophoresis U&Es Blood and urine culture Bone marrow aspiration
Why is anaemia common in toddlers?
Poor intake of iron-rich foods
Cow’s milk bottle feeding leads to occult GI blood loss
3 yr old comes in with irritability and pallor, started on iron treatment, however, has been unresponsive
Blood film shows hypochromic microcytic anaemia
X ray shows radiopaque flecks and increased density at growing ends of bone
What is this and its tx?
Lead poisoning
- high lead levels would have been tested irl
- radiopaque = foreign matter ingested
- long bones with increased density = leadlines
Sx
- usually subtle, irritability, decreased play, anorexia
- acute encephalopathy rare
Tx
- lead chelating agents
- source must be identified and removed
Complication of repeated iron transfusions and how are they managed
Haemosiderosis
- cardiomyopathy
- cirrhosisd
- diabetes
- skin pigmentation
Chelating iron agents to mop up extra iron
- desferrioxamine, subcutaneous/IV/oral
How is thalassaemia diagnosed?
Haemoglobin electrophoresis
- beta thalassaemia = HbA1 absent, HbA2 + HbF increased
What would blood film of homozygous state of thalassaemia show?
Severe anaemia
- hypochromia, microcytosis
- fragmented poikilocytes
- target cells
What would you see on physical examination of a child with thalassaemia major?
Anaemia - pallor Maxillary overgrowth - frontal bossing Hepatosplenomegaly Skin pigmentation - haemosiderosis Short stature and delayed puberty
4 yr old comes in with painful swelling of hands and feet after a bout of gastroenteritis
O/E scleritis, dactylitis, splenomegaly
What’s going on and what would you see on a blood smear?
Sickle cell disease, pts susceptible to acute, painful crises due to dehydration, hypoxia or acidosis
Blood smear
- target cells
- poikilocytes
- irreversibly sickled cells
Complications of sickle cell disease
Chronic haemolysis
Recurrent painful crises due to ischaemic occlusions
Aplastic crises
Sequestration crises causing circulatory collapse
Pneumococcal infection due to asplenism
Osteomyelitis
Renal damage w reduced ability to concentrate urine
Gallstones
Heart failure from chronic anaemia
Mx of child with sickle cell disease
Analgesics, abx, warmth, fluids during crises
Blood transfusion if Hb low during aplastic, sequestration or haemolytic crisis
Maintain immunisations, i.e. pneumococcal
Penicillin prophylaxis to prevent pneumococcal infection
Genetic counselling for family
How is sickle cell diagnosed?
Haemoglobin electrophoresis
- HbS present, HbA absent
What is the main concern for children with asplenism and how are they managed?
Spleen responsible for filtering blood and early antibody responses so asplenic children at high risk of sepsis, particularly due to pneumococcal infection
- prophylactic penicillin
- maintain pneumococcal immunisation
10 yr old comes in with new onset rash, had viral infection 2 weeks ago, otherwise generally healthy
O/E petechial rash, superficial bruising on arms and legs
What will your ix show for most likely diagnosis?
Low platelet count < 40 x10^9/L
Normal WCC, Hb (anaemia only if significant blood loss occurring)
Bone marrow aspirate (to exclude aplastic/neoplastic bone marrow problems) show normal or increased megakaryocytes
What’s the prognosis for ITP?
Fantastic - 85% self-limiting course
Severe spontaneous haemorrhage and intracranial bleeding confined to initial phase of disease then majority children recover within 6 months
Children with chronic ITP face splenectomy and immunosuppressive tx
5 yr old comes in with increased lethargy and wt loss over last couple months. Mum mentions recent fevers and irritability. Last week been complaining about left leg pain.
O/E petechiae, mucous membranes bleeding, lymphadenopathy, splenomegaly, bone tenderness in left leg
What will ix show likely show?
Peripheral blood smear
- elevated WCC
- anaemia
- thrombocytopenia
- blast cells may be seen
Bone marrow
- replaced by leukaemic lymphoblasts
What features would you expect to see in congenital rubella infection of a newborn?
Characteristic features:
- sensorineural deafness
- congenital cataracts
- congenital heart disease (i.e. PDA)
- glaucoma
Other features:
- growth retardation
- hepatosplenomegaly
- purpuric skin lesions
- ‘salt and pepper’ chorioretinitis
- microphthalmia
- cerebral palsy
What would you expect to see in congenital toxoplasmosis infection of a newborn?
Characteristic features:
- cerebral calcification
- chorioretinitis
- hydrocephalus
Other features:
- anaemia
- hepatosplenomegaly
- cerebral palsy
What would you expect to see in congenital cytomegalovirus infection of a newborn?
Characteristic features:
- growth retardation
- purpuric skin lesions
Other features:
- sensorineural deafness
- encephalitis/seizures
- pneumonitis
- hepatosplenomegaly
- anaemia
- jaundice
- cerebral palsy
What causes stridor?
Partial obstruction of the upper airway, causing an inspiratory noise
What causes wheeze?
Partial obstruction of the lower airway, causing an expiratory wheeze
Signs of respiratory distress
SOB Tachypnoea Alar flaring Intercostal and subcostal recession Use of accessory muscles for breathing
SEVERE SIGNS
Cyanosis
Drowsiness
Inability to talk
What age groups do the following conditions typically occur in?
a) croup
b) epiglottis
c) foreign body
d) laryngomalacia
e) subglottic stenosis
a) 6-24 months
b) 2-7 years
c) 9-18 months
d) newborn
e) 0-6 months
What are the distinguishing features between the following conditions?
a) croup
b) epiglottis
c) foreign body
d) laryngomalacia
e) subglottic stenosis
They all present with stridor
a) coryzal prodrome, barking cough
b) toxicity and high fever, drooling
c) hx and sudden onset stridor
d) at birth, nosy breather worse on crying and improves w age
e) previous hx of intubation, exacerbations with URTI
What are the developmental warning signs at any age?
Maternal concern
Regression in previously acquired skilss
What are the developmental warning signs at 10 weeks?
Not smiling
What are the developmental warning signs at 6 months?
Persistent primitive reflexes
Persistent squint
Hand preference
Little interest in people, toys, noises
What are the developmental warning signs at 10-12 months?
No sitting
No double-syllable babble
No pincer grasp
What are the developmental warning signs at 18 months?
Not walking independently
Fewer than six words
Persistent mouthing and drooling
What are the developmental warning signs at 2.5 years?
No two- to three-word sentences
What are the developmental warning signs at 4 years?
Unintelligible speech
Causes of speech and language difficulties
Speech difficulties Stammer Cleft lip and palate Deafness Maturational delay (familial) Environmental deprivation and neglect Learning disabilities Communication difficulties Autism Language disorder
Common causes of delayed walking
Delayed motor maturation (familial) Severe learning diasabilties Cerebral palsya Hypotonia of any cause Muscular dystrophy Other neuromuscular disorders
What signs may you see on physical examination of the following patients with:
a) Trisomy 21
b) Fragile X
c) Fetal alcohol syndrome
d) Inborn errors of metabolism
e) Intrauterine infections
a) Epicanthic folds, small palpebral fissures, flat nasal bridge, single palmar crease, Brushfield spots, hypotonia
b) Long face, prominent ears, large jaw, large testes at puberty
c) Short palpebral fissures, maxillary hypoplasia, thin upper lip, microcephaly
d) Sometimes coarse features, hepatosplenomegaly, microcephaly, failure to thrive
e) Visual or hearing deficits common, microcephaly
What medication is used for ADHD in children?
Methylphenidate
Character and area affected in the brain by the following types of cerebral palsy:
a) Spastic
b) Dystonic
c) Ataxic
Spastic
- most common
- damage to cerebral motor cortex/its connections
- brisk deep tendon reflexes, clonus, hypertonia in affected limbs
Dystonic
- damage to basal ganglia
- irregular, involuntary movements that may be continuous/occur on voluntary movement
Ataxic
- rare
- damage to cerebellum
- hypotonia, incoordination and intention tremor
What features may be seen in the diagnosis of cerebral palsy in a 12-month old?
Abnormalities of tone
- initially reduced than spasticity develops
Delays in motor development
- marked head lag and delays in sitting and rolling over usually found
Abnormal patterns of development
Persistence of primitive reflexes
- Moro, grasp, and asymmetric tonic neck reflex persist
State the main features of spastic hemiplegia cerebral palsy
One side of the body affected, arm > leg, walking delayed until 18-24 months then characteristic gait noted - walks on tiptoes, affected arm held in dystonic posture when running
State the main features of spastic diplegia cerebral palsy
Survivor of severe prematurity, both legs involved > arms, problem when baby starts to crawl and legs drag behind, when baby suspended goes into scissoring position, walking delayed and child walks on tiptoes
State the main features of spastic quadriplegia cerebral palsy
Severe due to marked motor impairment of all extremities, associated with severe LD and fits, swallowing difficulties and GO reflux common, microcephaly
What teams are involved with children cerebral palsy?
Paediatricians Physiotherapists Occupational therapists Speech therapists Orthopaedic surgeons Dieticians Social workers (support family) Special educational needs institutions (if severe)
Neurological signs seen in affected limbs of spastic cerebral palsy
Clasp-knife hypotonia
Brisk deep tendon reflexes
Ankle clonus
Babinski response (extensor plantar)
5 year old boy presents with a lordotic, waddling gait and difficulty climbing stairs.
O/E enlarged but weak calf muscles
What ix should you do and what would they show?
Elevated creatinine kinase levels
Further confirmatory ix:
EMG shows myopathic changes
Muscle biopsy
5 year old boy presents with a lordotic, waddling gait and difficulty climbing stairs.
O/E enlarged but weak calf muscles
What is the cause of their condition?
Duchenne muscular dystrophy is X-linked recessive trait
Only seen in boys
Mx of duchenne muscular dystrophy
Poor prognosis - life expectancy 20s-early 30s
Respiratory support with steroids or non-invasive breathing support overnight
Physiotherapy
Genetic counselling for future pregnancies
Clinical features of trisomy 21
Upward sloping palpebral fissures Epicanthal folds Brushfield spots Protruding tongue Flat occiput Single palmar creases Hypotonia Small stature