Paeds - Investigations Flashcards
Bronchiolitis ix
• O2 sats.
• Assess hydration status
• Chest physiotherapy assessment
o In children with relevant comorbidities (e.g. spinal muscular atrophy, severe tracheomalacia) – there may be additional difficulty clearing secretions
• Do not routinely perform
o Bloods
o CXR
Changes mimic pneumonia + should not be used to determine the need for abx
Consider if intensive care is being proposed for a baby or a child
o Capillary blood gas testing
Consider in children with worsening respiratory distress (supplemental O2 conc >50%) or suspected impending respiratory failure
Score used to assess croup severity + scoring
Westley croup score
• LOC
o Normal (incl. sleep) – 0
o Disorientated – 5
• Cyanosis
o None – 0
o Cyanosis with agitation – 4
o Cyanosis at rest – 5
• Stridor
o None – 0
o When agitated – 1
o At rest – 2
• Air entry
o Normal – 0
o Decreased – 1
o Markedly decreased – 2
• Recession (subcostal, tracheal tug, severe w/ ac muscle use)
o None – 0
o Mild (nasal flaring) – 1
o Moderate (suprasternal and intercostal) – 2
o Severe (all accessory muscles used) – 3
- Maximum total points – 17
- Mild -<2
- Moderate 3-7
- Severe 8-11
- Impending respiratory failure >12
Croup ix
• Do not examine throat risk of airway obstruction
• Check vital signs
o Low SaO2 on pulse oximetry (<95%) significant respiratory impairment
• Normal chest sounds
• Reduced breath sounds where there is severe airflow limitation
• CXR
o Steeple sign/wine bottle sign - tapering of the upper trachea on a frontal CXR
https://upload.wikimedia.org/wikipedia/commons/1/12/Croup_steeple_sign.jpg
Whooping cough ix
Cough 2 weeks or less
o Culture of nasopharyngeal aspirate
o RT-PCR of nasopharyngeal/throat swabs To confirm infection in people of all ages with sx. <3w duration
o Negative result does not exclude pertussis
• Serology + oral fluid test may be confounded by receipt of a primary or booster dose of pertussis-containing vaccine within the last year
Whooping cough ix
Cough >2 weeks
o <5 or >17 years Anti-pertussis toxin immunoglobulin G (IgG) serology
o 5-16 years - Anti-pertussis toxin IgG detection in oral fluid
• Serology + oral fluid test may be confounded by receipt of a primary or booster dose of pertussis-containing vaccine within the last year
Whooping cough ix findings that confirm dx
• Diagnosis confirmed when
o Bordetella pertussis is isolated from a nasopharyngeal aspirate or nasopharyngeal/prenasal swab
o Detection by rt-PCR of the pertussis toxin S1 promoter region (ptxA-pr) + the insertion element IS481 or
o Anti-pertussis toxin IgG detected in serum or oral fluid in the absence of vaccination within the past year
Pneumonia in children ix
- No validated severity assessment tool is available for children and young people with CAP
- Severity of symptoms or signs should be based on clinical judgement
• Send a sample (e.g. sputum sample) for microbiological testing
o Children + young people in hospital w CAP + severe symptoms/signs or a comorbidity
o If symptoms or signs have not improved following abx treatment
o Review choice of antibiotic once results are available
o Consider changing the antibiotic according to results, using a narrower-spectrum abx if appropriate
• CXR not routinely indicated
o Focal consolidation bacterial cause
o Diffuse consolidation bronchopneumonia viral cause
• Other tests
o Tuberculin skin testing - ?TB
o Mycoplasma infection – RBC agglutination – cold agglutinins
o Immunofluorescence/PCR – RSV on nasopharyngeal aspirate
o Bloods - raised WCC, raised ESR/CRP, U+Es (SIADH), mycoplasma serology
Mesenteric adenitis ix
- Clinical dx
- Abdominal US – Enlarged mesenteric lymph nodes
- CT scan abdomen pelvis – enlarged mesenteric lymph nodes
- Diagnostic laparoscopy/laparotomy if the dx is not clear after ix + there is a risk of the child having a more serious condition e.g. acute appendicitis, ectopic pregnancy
Biliary atresia ix
• Serum total and direct/conjugated bilirubin
o If jaundice with pale stools/ jaundice persisting beyond 14 days of age
o If direct/conjugated bilirubin >17.1 micromol/L or >1 mg/dl – further ix required
• Newborn screen (incl. test for galactosaemia, thyroid dysfunction, CF + a variety of metabolic diseases)
o Usually normal
o Positive test for CF does not exclude biliary atresia as pathology may co-exist
• PT, INR
o Usually normal
o May be elevated INR >1.5, PT>14s – due to vitamin K malabsorption or due to hepatic disease
o If PT is abnormal, other fat-soluble vitamin deficiencies may be present
• LFTs
o Disproportionately high g-GT
• Abdominal US
o Triangular cord sign - highly suggestive of biliary atresia
o Liver usually normal texture, possibly enlarged
o Gallbladder either shrunken or not seen
o Polysplenia, pre-duodenal portal vein laterality defects that could be consistent with a biliary atresia dx
Intestinal atresia ix
• AN detection
o Can be detected on US or fetal MRI if available
o Polyhydramnios may be a presenting feature
o Uncommon to be diagnosed before 18w of gestation + difficult to detect up to 24 weeks
• CXR
o Fewer air levels than expected
o Dilated bowel
o Double bubble sign = duodenal atresia
• Barium enema
o Small colon = distal small-bowel obstruction
o If it enters the small bowel – may help demonstrate the level of a distal obstruction
o Might show other causes of lower obstruction – Hirschsprung’s disease, meconium plug
• Complete prenatal evaluation + amniocentesis
o Because of the high incidence of associated birth defects
o CF, T21, CHD, oesophageal atresia, anorectal atresia, annular pancreas, bowel rotational abnormality
Cerebral palsy ix
• History
o Antenatal hx
o Family hx
o Ask about milestone attainment
• Examination
o Pay particular attention to movement + muscle tone (excessive stiffness or floppiness)
• MRI brain to ix aetiology
o Have in mind that
Subtle neuro-anatomical changes that could explain the aetiology of CP may not be apparent until 2 y of age
GA or sedation usually needed for young children having MRI
Not always possible to identify cause
o Periventricular leukomalacia +
o White matter damage – 45%
More common in preterm children
More common in spastic than in dyskinetic CP
o Basal ganglia or deep grey matter damage – 13%
Mostly associated with dyskinetic CP
o Congenital malformation – 10%
More common in children born at term than in those born preterm
Associated with higher levels of functional impairment than other causes
o Focal infarcts – 7%
o Stroke or haemorrhage
o Cystic lesions
• Repeat MRI scan if
o There is change in the expected clinical or developmental profile or
o Any red flags for progressive neurological disorder appear
• Eating, drinking and swallowing difficulties
o Clinical assessment as first-line ix
o Ask about previous chest infections
o Observation of eating + drinking by SALT
• Gross motor function classification system (GMFCS)
o Classifying the movement ability of children with cerebral palsy
• Bayley scales of infant and toddler development
• GMA – general movement assessment
o During routine neonatal f/u assessments for children between 0-3m who are at increased risk of developing cerebral palsy
• HINE – Hammersmith Infant Neurological Examination
o Neurological examination tool for evaluating children aged 2-24 months (corrected age for children born preterm)
o Abnormal scores are indicative of CP
MRI findings in cerebral palsy
o Periventricular leukomalacia +
o White matter damage – 45%
More common in preterm children
More common in spastic than in dyskinetic CP
o Basal ganglia or deep grey matter damage – 13%
Mostly associated with dyskinetic CP
o Congenital malformation – 10%
More common in children born at term than in those born preterm
Associated with higher levels of functional impairment than other causes
o Focal infarcts – 7%
o Stroke or haemorrhage
o Cystic lesions
Atopic eczema ix
• History taking
o Time of onset, pattern, severity of atopic eczema
o Response to previous + current treatments
o Possible trigger factors (irritant + allergic)
o Impact on children + parents/carers
o Dietary hx incl. any dietary manipulation
o Growth + development
o Personal + FHx of atopic diseases
- Assessment of psychological + psychosocial wellbeing + QOL
- Objective measures for the severity of atopic eczema, QOL, response to treatment
o Visual analogue scales (0-10) for the previous 3 nights, capturing
Child’s and/or patents’ assessment of severity
Itch
Sleep loss
o Validated tools
Severity – POEM (Patient-Oriented Eczema Measure)
QOL – CDLQI (children’s dermatology life quality index), IDQoL (Infants’ Dermatitis Quality of Life Index), DFI (Dermatitis, Family, Impact)
• Mild eczema – no need to have tests for allergies
DMD ix
Examination
• Watch the child running or rising from the floor
• Look for waddling gait + Gower’s sign
Serum CK
• 50-100 times normal level
• CK levels peak at 5 years
• Not reliable in wheelchair users – CK levels fall due to muscle wasting
Genetic testing
• Multiplex ligation-dependent probe amplification (MPLA)) Xp21 mutation (Xp21 exons 46-53 deletions/mutations)
• Full gene screening for point mutations in MLPA-negative boys with clinical DMD
EMG
If DNA studies are negative
• Can distinguish between neuropathic and myopathic pathology
• After myopathic EMG biopsy
Muscle biopsy
If DNA studies are negative
• Absent dystrophin
• Genetic testing after a positive biopsy dx of DMD is mandatory if not already done
Carriers
• Carrier status usually identified by genetic analysis
• CK high in carriers
• Prenatal diagnosis using genetic analysis
Abnormal LFTs (high AST + ALT) • Diagnosis of DMD should be considered before liver biopsy
BMD ix
Examination
• Watch the child running or rising from the floor
• Look for waddling gait + Gower’s sign
Serum CK
• 50-100 times normal level
• CK levels peak at 5 years
• Not reliable in wheelchair users – CK levels fall due to muscle wasting
MPLA or full sequencing of the dystrophin gene
• Xp21 mutation
Muscle biopsy
• Diminished quantity or quality of dystrophin
• At least 3% normal dystrophin
West syndrome/infantile spasm syndrome ix
• Neurological examination
o May reveal abnormal motor tone
o Hypotonia, hypertonia, spasticity
Hypertonia – resistance to passive movement, not dependent on velocity
Spasticity – increase in resistance to sudden, passive movement, is velocity dependent – the faster the passive movement, the stronger the resistance
• EEG
o Hypsarrhythmia = abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes
• Rule out other causes o Hypoglycaemia - Plasma glucose o Hypocalcaemia - Serum Ca o Hypomagnesaemia - Serum Mg o Infection - Blood + urine cultures, FBC
• LFTs
o Raised CK, AST, ALT, ALP, total bilirubin
o Abnormalities observed with intrauterine infections e.g. CMV, toxoplasmosis
• Renal function tests
o As a baseline ix
• Microarray comparative genome hybridisation
o Can detect intermediate-scale genomic rearrangements
• Before starting CS + while on CS
o BP measurement
o Glycosuria urinalysis
West syndrome/infantile spasm syndrome ix for aetiology
Investigate aetiology
• MRI
o Structural and migrational abnormalities
o Areas of malformation/lesions secondary to haemorrhage, calcification, cystic changes, encephalomalacia, infarction, infection, tumour
o May suggest other aetiologies incl. various neurocutaneous syndromes + inborn errors of metabolism
o May be entirely normal
• Intrauterine infections
o Ophthalmology examination – chorioretinitis
o CMV IgG and/or IgM
o Toxoplasmosis IgG and/or IgM
• Tuberous sclerosis o Ophthalmology examination - Haemartomas o Renal US – angiomyolipomas o Echo – Rhabdomyomas o MRI – cortical tubers
• Inborn errors of metabolism
o Serum amino acids
o Urine amino acids + organic acids
• Mitochondrial disorders raised serum lactate/pyruvate
• CSF
o Low CSF: Blood glucose in glucose transporter deficits
o High CSF lactate in mitochondrial disorders
o Amino acid abnormalities – aminoacidopathy
Which parameters do you ix to assess dehydration?
Behaviour Alert + responsive UO Skin colour Extremities Eyes Mucous membranes HR RR Peripheral pulses CRT Skin turgor BP
Gastroenteritis ix
History
• Symptoms
• The onset, frequency, duration, and severity of symptoms.
• Risk factors for developing dehydration, current fluid intake (including breastfeeding in children), food intake, and urinary output
• Any features of complications
• Any co-morbid conditions including history of immunosuppression
• Recent food intake (types of food eaten) that may suggest food poisoning as a cause.
• Recent exposure to untreated or potentially contaminated wate.
• Contact with other affected individuals or outbreaks
• Recent foreign travel
• Recent antibiotic or proton pump inhibitor treatment, or recent hospital admission (may increase the risk of Clostridium difficile infection)
Examination
• Assess for clinical features of dehydration or shock in children
• Assess for possible sepsis
• Examine the abdomen for distension, tenderness, masses, and bowel sounds.
• Assess weight and for signs of malnutrition
• Assess for features suggesting an alternative diagnosis
Children <5 • Consider stool culture if o Recent travel abroad or o D has not improved by day 7 or o Uncertainty about the dx
• Perform stool culture if
o You suspect septicaemia or
o There is blood +/or mucus in the stool or
o The child is immunocompromised
• Do not routinely perform biochemical testing
• Measure Na, K, U, Cr, glucose concentrations if
o IVF is required or
o There are symptoms and/or signs that suggest hypernatraemia
• VBG + Cl- concentration
o If shock is suspected or confirmed
- Blood culture – if giving abx therapy
- Assess dehydration + shock
DDH ix
• Hip US
o Preferred radiological test in infants from 6w-6 months (bmj) 6w-4.5m (patient.info)
o May be considered in the context of normal examination if RF for DDH are present – FHx and/or breech females
o Findings – subluxation on provocative testing, abnormal relationship between femoral head + acetabulum
o Frank instability/dislocation on US refer to paediatric orthopaedist
o If access to paediatric orthopaedist is limited + mild dysplasia (e.g. immature acetabulum without immaturity) serial US + physical examination every 4w
• Hip XR
o If >6m (bmj), 4.5m (poatient.info)
o Finings – abnormal relationship between femoral head + acetabulum (assessed by acetabular index, Shenton’s line, ossification of femoral head)
DDH - indications for US examination of the hips within 6w of age
o 1st degree FHx of hip problems in early life, unless DDH has been definitely excluded in that relative
o Breech presentation at >36 w (irrespective of presentation at delivery or MOD)
o Breech delivery (incl. <36/40)
o multiple birth – if any of the baby falls into either of these ^ categories, all babies in this pregnancy should have an USS examination
Perthes disease ix
• Bilateral hip XR (frog lateral)
o Helps determine the stage of the disease process
o Femoral head collapse + fragmentation
o Subchondral fracture
o Early XR – widening of the joint space, may be normal
o Later XR – decrease in the size of the nuclear femoral head with patchy density
o Later still XR – collapse + deformity of femoral head with new bone formation
• MRI of hips
o Considered if radiographs appear normal
o Can be used to identify pathology (seen as an area of reduced perfusion)
o If performed >6m after disease onset – can demonstrate degree of epiphyseal involvement
o After re-ossification can assess extent of damage
o Shows femoral head collapse + fragmentation
o Can predict final outcome using perfusion index
• Bone scintigraphy
o Helps in the dx during the ischaemic stage when radiographs may appear normal
o Cold spot in the affected hip early in the disease process
• Arthogram and/or MRI
o To assess congruency throughout the full range of movement
o Flat-topped incongruent head – worst prognosis
• If bilateral perthes’ disease – requires a skeletal survey as part of the work-up o Hypothyroidism o Multiple epiphyseal dysplasia o Spondyloepiphyseal dysplasia tarda o Sickle cell disease
• Ix to exclude other conditions
o FBC
o ESR, CRP
o Hip aspiration – if a septic joint is suspected
Hand foot and mouth disease ix
• Laboratory ix (oral, skin, rectal swabs)
o Usually not necessary in primary care (self-limiting nature of illness)
o Viral culture (EV71) – stool or vesicle fluid if exposure to EV71 is a possibility (e.g. exposure in East or South-east Asia)
• FBC – if exposure to EV71 is a possibility
o WCC
o Atypical lymphocytes
Chickenpox ix
- Clinical diagnosis
- Laboratory tests can be used for confirmation but are rarely required in primary care
• Investigations to consider o PCR o Viral culture o DFA – direct fluorescent antibody testing More rapid results More sensitive than viral culture Positive for varicella-zoster virus antigen (indicating that virus is present) o Tzanck smear Multi-nucleated giant cells under microscopic evaluation Used less frequently for dx Not as accurate as DFA Not specific for VZV
Mumps ix
• History o Immunisation hx o Hx of mumps o Contact with someone with mumps – same room for >15 or f2f contact (mumps may have been contracted up to 4 weeks previously) o Recent outbreaks o Age – unlikely in <1
• Laboratory analysis of saliva sample to detect the presence of IgM mumps antibody – sent to pt by HPU
Measles ix
- Check the person’s immunization history + whether they have previously had measles
- Determine whether the person has had significant contact with a possible case of measles
- Ask about travel hx
• Oral fluid sample for IgM/IgG and/or viral RNA testing – sent to pt by HPU (NICE CKS)
• Bloods (bmj)
o Measles specific IgM + IgG serology (ELISA)
o Can identify measles-specific IgM during acute infection
o IgG – pervious exposure or vaccination
o Rubella + parvovirus B19 infection may cause false positive IgM ELISAs
Ix for diagnosing CF
• Sweat test
o Most conclusive test for dx
o Performed in addition to genetic testing
o Negative – sweat Cl- <30mmol/L
o Intermediate – further ix required
o Positive – sweat Cl- >60mmol/L immediate referral to a CF centre
o Offered if FHx Congenital intestinal atresia Meconium ileus Symptoms + signs that suggest distal intestinal obstruction syndrome Faltering growth Undernutrition Malabsorption Recurrent + chronic pulmonary disease – recurrent LRTIs, clinical/radiological evidence of lung disease (in particular bronchiectasis), persistent CXR changes, chronic wet/productive cough Chronic sinus disease Obstructive azoospermia Acute or chronic pancreatitis Rectal prolapse Pseudo-Bartter syndrome
• Immunoreactive trypsinogen test (newborn screening)
o Performed as part of the newbron screening by quantifying serum immunoreactive trypsinogen from a dried heel-stick blood spot
o Allows for early diagnosis + treatment, provides significant clinical benefits, improved nutrition + cognition
o May decrease lung disease + hospital admissions
• Genetic testing
Ix for CF complications
• Pancreatic insufficiency
o Faecal elastase
If normal – repeat if symptoms or signs suggesting malabsorption occur
• Liver disease
o LFTs
o Liver US if LFTs abnormal
• Cystic fibrosis related diabetes
o Diagnose using one of the following
Continuous glucose monitoring (CGM)
Serial glucose testing over several days
Oral glucose tolerance testing (OGTT) – if abnormal, perform CMG or serial glucose testing over several days to confirm dx
o Test
Annually from 10 years of age
At the end of the 1st + 2nd trimesters of pregnancy
In people who are taking long-term systemic CS or are receiving enteral tube feeding
Consider testing if, despite optimised CF treatment – unexplained weight loss, deterioration in lung function (spirometry), frequency of pulmonary exacerbations, excessive tiredness
• Bone mineral density o DEXA scans if RF for low BMD Frequent or long-term oral CS use Frequent IV abx use Severe lung disease Undernutrition Previous low impact fractures Previous transplants Post menopause
• Pulmonary ix
o Low dose chest CT for children with CF who have not had a chest CT scan before to detect features that other tests (e.g. plain CXR) would miss early bronchiectasis
o CXR – during or after treatment for an exacerbation of lung disease if
The exacerbation does not respond to treatment or
A CXR before treatment showed new radiological abnormalities
o BAL to obtain airway samples for microbiological ix in people w CF if
They have lung disease that has not responded adequately to treatment and
The cause of the disease cannot be found with non-invasive upper airway respiratory secretion sampling
Constipation - what do you want to examine?
Obs Abdominal examination Inspection of the perianal area Spine/lumbosacral region/gluteal examination Lower limb neuromuscular examination
Pyloric stenosis investigations and findings
• Chemistry panel
o Severe cases – hypochloraemic alkalosis + mild hypokalaemia
• US abdomen
o Pyloric muscle thickness >4mm
o Pyloric canal length >17mm
GORD ix
History
• Rule out red flags
• Ask about RF – premature birth
• Ask about complications – recurrent aspiration pneumonia
• Ask about mode of feeding
o If BF – might need advice + tips
o If bottle fed – type of formula used, how is it prepared, frequency of feeding, volume consumed, resistance or refusal to eat
• Age of symptom onset
• Frequency + estimated volume or regurgitation + vomiting
• Characteristics of the vomit
• Associated symptoms
o Crying while feeding
o Respiratory symptoms – hoarseness, chronic cough
o Apnoeic episodes
o Any episodes of persistent back arching or features of Sandifer’s syndrome (episodic torticollis with neck extension + rotation)
Examination
• Usually normal
• Chest examination - ?respiratory symptoms or signs
• Exclude alternative explanations of vomiting – temperature (sepsis), abdomen palpation (strangulated hernia), head circumference (intracranial pathology)
• Assess growth using centile charts to look for faltering growth
Other ix (bmj) • Overnight oesophageal pH monitoring o Diagnostic standard o Low pH • Barium swallow + radionuclide scan o May show oesophageal reflux • Endoscopy o May show superficial oesophageal ulcerations or inflamed mucosa • U+E o Normal o May show low Cl- due to emesis
Impetigo ix
• Usually a clinical dx
• Bacterial skin culture
o when disease is extensive or if there is a risk of spread of infection
o if treatment resistance disease – to test for MRSA
History
• Clinical features – onset, evolution, duration, location of lesions
• Contacts with a similar rash
• PMH – pre-existing skin conditions (e.g. eczema), immunosuppression
• Other RF – trauma to skin (e.g. abrasions, insect bites)
• Previous treatment incl. antimicrobial therapy
• Systemic features e.g. fever
Examination
• Bullae
• Yellow exudate forming a crust
• Systemic involvement – lymphadenopathy, fever
• Signs of conditions that may present similarly to impetigo
Other ix
• Swabs (of exudate from most lesion or de-roofed blister) for culture + sensitivities
o In persistent, recurrent, widespread cases despite treatment
o Consider possibility of MRSA
Kawasaki disease ix
• Clinical dx
• FBC
o Acute stage – normocytic anaemia, WCC
o Subacute stage – plt (begins to rise in the 2nd week + continues to rise until the 3rd)
• ESR
o Raised during the acute stage
o Tends to return to normal levels at the end of the subacute phase
• CRP
o Raised during the acute stage
o Returns to normal levels the fastest good marker of acute inflammation
• Echo
o To evaluate coronary artery aneurysms - ?dilation, ?aneurysms
o During acute phase – rule out coronary artery aneurysm, seek evidence of myocarditis, valvulitis, pericardial effusion
o In the first week of illness, echo is typically normal + does not rule out the dx
o Perform at dx + routinely repeat it at 1-2w + 4-6w after treatment
o If coronary artery abnormalities are significant during the acute illness – perform echo at least 2ice per week
o Important to detect coronary artery thrombosis – might need thromboprophylaxis
Other ix
• LFT - LFT in 40%, bilirubin in 10%
• Urinalysis – sterile pyuria in 50% +/- proteinuria
• CXR – cardiomegaly in pericarditis, myocarditis, subclinical pneumonitis
• ECG – conduction abnormalities, MI in some children
• LP – aseptic meningitis in some cases
• US of testes - ?epididymitis if testicular involvement
• Abdo US – gallbladder distension
• Cardiovascular RF assessment – BP, fasting lipid profile, BMI, waist circumference, diet, activity, smoking
Precocious puberty ix
History
• Should be directed dependent on whether puberty is consonant or disconsonant (i.e. whether the pattern of endocrine change is the same as in normal puberty or not)
• Age + rate of pubertal changes
• FHx
• CNS symptoms – headache, visual changes, seizures
• Growth history plotted on a growth chart
Examination
• Height and weight
• Tanner stage of pubertal development
• Measure testicular volume
o Testicular disorders – increase as with normal puberty in GDPP
o Adrenal disorders – volume remains prepubertal
• CNS examination – fundoscopy, CNs
• Testicular + pelvic examination for masses
• Examination for specific causes – hypothyroidism, skin lesions (MAS, neurofibromatosis)
Investigations
• Bone age assessment
o L hand/wrist radiograph – helps estimate skeletal age (advanced in precocious puberty)
o Appearance of representative epiphyseal centres on XR compared with age- and sex- appropriate published standards
o Most commonly used method – Greulich + Pyle
o If bone age is within 1 year of chronological age – puberty has not started or has only just started
o Bone age 2 years advanced of chronological age – puberty has probably been present for at least a year or is progressing rapidly
• Basal FSH + LH (early morning samples)
o GDPP – high
Hypothalamo-pituitary-gonadal axis prematurely activated
o GIPP – low
Autonomous + independent secretion of sex steroids autonomous + independent of central hypothalamic GnRH pulse loss of normal feedback regulation sex steroid concentrations with gonadotrophins
o Random LH – useful initial test for GDPP, random FSH will not distinguish prepuberty from puberty
• Serum testosterone
o Males – confirms onset of puberty
o Females – ?CAH or virilising adrenal or ovarian tumour
• Serum oestrogen – confirms onset of puberty in females
• US pelvis
o To rule out an oestrogen-secreting gonadal tumour/cyst (particularly in GIPP)
o Not required in GDPP but will demonstrate changes in ovaries + uterus:
o Osteogenic effect
Uterus in puberty – tubular pear-shaped
Endometrial thickening – suggests that pubertal conc. Of oestrogen have been attained
Endometrium of 6-8mm – imminent menarche
Presence of endometrial echo
o Gonadotrophin stimulation – presence of follicles in the ovaries
• LHRH stimulation test
o Pituitary stimulation with LHRH – measure LH+FSH sequentially after GnRH is given – assesses gonadotrophin reserve
o Flat response in GIPP
o Post-LHRH serum LH + FSH are measured
Other ix
• MRI brain
o In all boys + girls with onset of puberty <6
o In all cases of progressive GDPP
• Adrenals
o CAH
17-hydroxyprogesterone (to quantify amount of adrenal androgens being produced) – elevated in CAH
ACTH stimulation test – identifies adrenal steroid synthesis defects (e.g. CAH)
Urinary steroid profile
• US/CT/MRI adrenals/testes - ? tumour
• TFT – high TSH can cause high FSH – isolated breast development/testicular enlargement without other secondary sexual characteristics
• Hcg - ?hcg tumours
CAH ix
• If 21-hydroxylase deficiency
o Serum 17-hydroxyprogesterone - diagnostic of classic CAH
o androstenedione
• Rapid ACTH stimulation test – diagnostic of non classic CAH
o IV 250μg ACTH
o Measure 17-hydroxyprogesterone levels at baseline + then 60 minutes later
o High 17-hydroxyprogesterone
o Levels should be measured early in the morning
• Serum cortisol – low to normal
• Serum 11-deoxycorticosterone + Serum 11-deoxycortisol - in 11-hydroxylase deficiency
• 17-hydroxypregnenolone + Dehydroepiandrosterone – in 3β HSD deficiency
• Serum chemistry – low Na, high K, hypoglycaemia, metabolic acidosis, azotaemia suggest renal insufficiency
• Bone age – if precocious puberty
• Genetic analysis
o If FHx of the disease or one of the one of the future parents has the disease
o Both parents should have genetic testing to determine if they carry a mutation
o Mutation + AR inheritance pattern
o To confirm dx where dx is equivocal, or where genetic counselling is needed
• Karyotype or FISH for X+Y chromosome detection – for newborns + infants with atypical genitalia
• Plasma renin activity
o Inversely related to intravascular volume status ]
o High renin due to volume depletion (salt wasting)
• US pelvis – presence of uterus + ovaries, renal anomalies
• serum concentrations of testosterone + adrenal androgen precursors in affected females + prepubertal males
Delayed puberty ix
• Non-dominant wrist XR
o To estimate skeletal age
o Predicts the estimated adult height range + its relation to the mid-parental height
o Appearance of representative epiphyseal centres on XR compared with age + sex appropriate published standards
o Most commonly used method is Gruelich + Pyle
• Basal FSH + LH
o Will differentiate hypogonadotropic hypogonadism (low levels) from hypergonadodtrophic hypogonadism (elevated levels)
o Early morning sample
Other ix to consider
• LHRH stimulation test
o Considered if low basal gonadotrophins
o LHRH used to stimulate gonadotrophins
o Measure serum LH + FSH
o Not really useful in differentiating between constitutional delay + organic gonadotrophin deficiency, as stimulated serum FSH + LH concentrations following LHRH may be low in both groups
o If ambiguous results pre-puberty – re-test at the end of growth + puberty to ascertain the need for long-term HRT
• Hcg stimulation test
o 3-day and/or 3-week stimulation used
o Hcg used to stimulate testicular production of testosterone
o Useful when combined with LHRH to help distinguish constitutional delay from hypogonadotropic hypogonadism
Constitutional delay = rise in serum testosterone concentration
Hypogonadotropic hypogonadism = decreased testosterone response
• MRI brain
o Consider if low basal gonadotrophins
o Helps identify structural hypothalamo-pituitary abnormalities, midline brain defects, olfactory hypoplasia, pituitary tumours
• Karyotype
o Klinefelter’s 47XXY
o Turner’s 45XO
• US pelvis + abdomen – dysgenic gonads in Turner syndrome
• Echo – coarctation of the aorta or bicuspid aortic valve in Turner’s
• Serum ovarian autoantibodies
• Assessment of olfaction - ?Kallman’s
• TFTs
• Serum prolactin
• Other pituitary hormone investigations
JIA ix
• Clinical dx
• Laboratory + radiographic testing provide classification + prognostic information but are not diagnostic
• FBC
o Oligoarticular JIA – normal
o Polyarticular – mild anaemia, thrombocytosis
o Systemic JIA – anaemia, leucocytosis, thrombocytosis
o Also important to exclude differentials e.g. infection, malignancy
• ESR + CRP
o Oligoarticular JIA – normal or mildly
o Polyarticular – mildly to moderately
o Systemic JIA – significantly
• ANA
o Oligoarticular JIA – positive
o Polyarticular – positive to a lesser extent
o Systemic JIA – negative in systemic + enthesitis-related subtype
o Baseline test – positive ANA associated with susceptibility to uveitis
o Positive ANA – not dx of JIA, negative ANA – does not rule it out
• Rheumatoid factor
o Positive in RF-positive polyarticular JIA
• 2 positive tests required for dx of RF-positive polyarticular JIA
o Negative in other subtypes
• Anti-cyclic citrullinated peptide antibody
o Positive in RF positive polyarticular JIA
o Negative in other subtypes
• Chlamydia test
o May be indicated in teenage patients with monoarticular disease
• US of affected joints
o Often abnormal early in the course of disease
• Ferritin levels
o Should be measured if systemic-onset juvenile idiopathic arthritis is suspected
Ix in a child presenting with developmental delay. intellectual impairment
• Children with specific LD do not require laboratory ix + are diagnosed by clinical hx
• Assessment tools – can be used by non-experts to help clarify the decision of whether to refer on to an expert
o Ages + Stages Questionnaire
o Schedule of growing skills
• Full developmental history
o Should always be taken even when the cause appears obvious – there maybe multiple co-existing pathologies
o Children with developmental delay may not have cognitive impairment (e.g. Duchenne’s muscular dystrophy)
o Neurodevelopmental hx*
o AN hx – drugs, no. of AN scans, age of parents
o Perinatal hx – GA, perinatal hypoxia or if the child required resuscitation, if the child cried straight away or if he/she needed help breathing
o Hospital admissions or prolonged periods of illness – intrauterine infection/toxicity/perinatal hypoxia – require admission to neonatal units, hx of later admissions due to meningitis/encephalitis, TBI
o FHx – hx of developmental delay/specific LD/cognitive impairment/seizures in parents/siblings/grandparents/extended family, consanguineous marriage
o SHx
o Schooling – any difficulties, concerns of other carers/school staff members
• Examination (see signs + symptoms)
o Skin, neurological, HC, ophthalmoscopy
• Developmental assessment
o Tools – The ages and stages Questionnaire, Schedule of growing skills
o More detailed assessments of cognitive ability (psychologist), expressive + receptive language (SALT), motor ability (OT or PT)
o Other tools used to assess the development of young children
• Bayley’s Developmental Scales
• Griffiths Mental Development Scales
• Kaufman Scales
o IQ assessment
• Wechsler Preschool and Primary Scale of Intelligence (WPPSI)
• Wechsler Intelligence Scale for Children (WISC)
o Reading, language, mathematical ability assessment
• Wechsler Individual Achievement Test (WIAT)
• Detailed neurological examination
o Abnormal findings CT or MRI
• Laboratory ix
o Not used in children with a specific LD
o Used in children with cognitive impairment to help identify underlying cause
o Children with developmental delay
• Chromosomal microarray testing (CMA)
• TFTs
• Congenital hypothyroidism is routinely screened for at 2-4 days
• MRI in severe delay
• Serum CK in boys
o If suspecting intrauterine infection – toxoplasma or rubella ab
o If suspecting bacterial meningitis or encephalitis – LP
• Confirm dx
• Identify organism via gram stain (bacterial meningitis), CSF serology (encephalitis)
• Genetic testing
o Chromosomal microarray testing (CMA)
o Testing for rare syndromes based on associated clinical features
o If clinical features point to no specific dx WES (whole exome sequencing)
• Imaging (MRI>CT) if
o Abnormalities on neurological examination that are not explicable from the clinical features or suggest serious intracranial pathology
o CT used when imaging is urgent or when recent haemorrhage or intracranial calcification are suspected
o Children may require sedation or GA
o Skull XR if craniosynostosis suspected – prematurely fused cranial sutures
• EEG if
o Developmental regression (? Epileptic encephalopathy)
o Symptoms that are variable/episodic in nature
• Educational + psychological assessment
Neurodevelopmental history*
• Assess developmental milestones (incl. rate of progress)
• Establish current functioning in terms of language + communication, social + motor development, hearing + vision, level of understanding
• Relevant developmental milestones
o 10-18 months – using words besides mama and dada
o 12m – responding to simple instructions, exploring, trial and error
o 12-18m – walking unaided
o 12-18m – pointing to objects that are of interest
o 18m – naming parts of the body
o 24-30m – 2 word phrases
What will the MRI show in
TBI
Perinatal hypoxia
Hypoxia/Asphyxia
Intracranial brain tumours
Decreased brain size
Fetal alcohol syndrome, teratogen induced changes
Tuberous sclerosis
TBI
Intracerebral bleeding, cerebral contusion, contre-coup injury, or skull fracture
Perinatal hypoxia
Variable neurological abnormalities (e.g., lack of differentiation between grey and white matter), or cystic periventricular leukomalacia
Hypoxia/Asphyxia
Initial oedema or loss of grey-white matter differentiation, with subsequent brain atrophy and cavitation
Intracranial brain tumours
clearly visualised
Decreased brain size
Rett’s syndrome
Fetal alcohol syndrome, teratogen induced changes
MRI is also used to assess organic brain damage
Tuberous sclerosis
May show cortical tubers ± giant cell astrocytoma
How would you dx
dyslexia
dyscalculia
educational psychological assessment – confirmation of diagnosis
How would you dx
ASD
ADHD
Social (pragmatic) communication disorder
Specific language disorder
MDT assessment – confirmation of dx
How would you dx
fetal alcohol syndrome
Clinical diagnosis
MRI brain – variable malformations
Tic disorder ix
• Clinical dx
• Tic disorders are hierarchical in order
o Once a tic disorder at one level of the hierarchy is diagnosed, a lower hierarchy dx cannot be made
o Escalating hierarchy of dx starting from the lowest: (1) other specified + unspecified tic disorders (2) provisional tic disorder (3) persistent motor or vocal tic disorder (4) Tourette’s disorder (highest)
Osteochondritis dissecans ix
• Knee/ ankle/ elbow XR o Osteochondral lesion o Free intra-articular loose bodies o Malalignment o Arthrosis o Minimum of 2 views of the involved joint (more specified for knee + ankle) performed for dx • Full length lower extremity film o To assess lower extremity alignment o If malalignment exists + the weight bearing line passes through the involved compartment osteotomy to unload the involved compartment
Investigations to consider
• CT
o Useful in identifying loose bodies within the joint
• MRI
o Allows direct visualisation of the chondral surface in axial, coronal and sagittal planes
• Diagnostic arthroscopy
o Most specific + sensitive test
o Direct visualisation of the osteochondral lesion
Osteomyelitis ix
• FBC - WCC
• ESR -
o Can be used to monitor treatment
• CRP -
o May be more helpful than ESR in monitoring response to treatment bc it normalises more rapidly
• Blood culture
o Aim to take blood culture before starting abx
• Plain XR of affected area
o May initially be normal
o Osteopenia appears 6-7d after infection onset
o May show joint effusion in local joints
o Other findings – bone destruction, cortical breaches, periosteal reaction
• MRI
o Most definitive + helpful imaging modality
o May show signs of infection in the medullary canal or surrounding soft tissues
o Can detect abnormalities in children within 3-5 days of onset – may be indicated when
• The child is very sick
• There are doubts about the dx
• A complication is suspected
• Bone scintigraphy
o For patients who are unable to have an MRI
o For ill-defined symptoms in children
o May show hot spots of infection
o May be positive as soon as 24h after onset
What do you ask in a food allergy hx + what do you examine for?
• History
o The possible causal food or foods
o The symptoms, frequency, speed of onset, duration, and the timing of the reaction in relation to the suspected allergen exposure. A food and symptom diary may be helpful.
o The form in which the food has been eaten (raw, semi-cooked, cooked, or baked), and quantity of food ingested.
o Any uneventful exposures to the suspected allergen before or after the reaction.
o The setting of reactions (such as school or home).
o The reproducibility of symptoms on repeated food exposure.
o The age when symptoms started, the person’s feeding history (age of complementary feeding [weaning], breast- or formula-fed), weight gain, and nutritional status.
o Any co-factors which may increase the likelihood of a clinical reaction: age (teenager and young adults), exercise, menstruation, stress, infection; ingestion of aspirin, nonsteroidal anti-inflammatory drugs (NSAIDs), or alcohol.
o Any co-morbid atopic conditions such as asthma, eczema, or allergic rhinitis.
o Any family history of food allergy or atopic conditions, particularly in parents and siblings.
o Any symptom response to dietary restrictions or reintroduction of foods, and/or medications tried, such as oral antihistamines
• Examination
o Nutritional status – weight, length/height, BMI
o Sign of a clinical rxn
o Signs of co-morbid conditions e.g. asthma, atopic eczema and/or allergic rhinitis
Other ix if you suspect food allergy
• Suggests a food and symptom diary
o Symptoms, frequency, speed of onset, duration, timing of the reaction
• Allergy testing to the suspected food allergens + likely cross-reactive foods
o Skin prick testing
• Epicutaneous introduction of allergen extracts with a lancet
• Typically to the volar aspect of the forearm
• Site is inspected after 15 mins + compared with +ve and -ve controls to detect sensitization to allergens
• Observer dependent
• May be suppressed by recent antihistamine, BB, TCA, topical CS use
o Serum-specific IgE allergy testing
• Widely available
• Results are not immediate
• May take days to weeks to process
- Inform pt of possibility of false positives and false negatives = food sensitization only n
- False negative – strong clinical hx of IgE mediated food allergy but negative allergy test results
o Allergy testing may also be used to assess whether tolerance has developed in a person with confirmed food allergy
- Egg, soyabean, wheat allergy – testing every 12-18m up to the age of 5 + every 2-4 years following this
- Peanut, tree nut, fish, shellfish – testing every 2-4y
• Oral food challenge
o Gold standard for dx of food allergy
o If results of allergy testing do not correspond with the clinical hx
o Administration of quantities of the food allergen under medical supervision, starting with direct mucosal exposure (allergen contact with the lips) + then titrated oral ingestion as tolerated
o Negative test symptoms are not provoked, clinical allergy can be excluded
o After 6-12m of being symptoms-free consider a food challenge
o If there has been a previous severe reaction to a known food, a repeat challenge is not usually arranged for at least 2 years
o Carried out in a hospital setting where rapid intervention is possible in the event of anaphylaxis
• Trial of food elimination diet
o Is not recommended for the diagnosis of IgE-mediated food allergy
o May be helpful in the dx of non-IgE mediated food allergy, under dietetic supervision
Hx + examination of angio-oedema
History
• Details of current episode
o When the swelling started + how long it has been present for
o If it’s itchy or painful
o Any known causes/trigger factors e.g. foods, drug treatments, insect bites, stings
o Associated urticaria
• Past episodes
• FHx of angio-oedema
• PMH – incl. autoimmune conditions or lymphoma
• Any co-existing medical conditions e.g. previous or current allergies or AI conditions
• Any GI sx – swelling of the lining of the intestinal tracts can cause GI pain + cramps
• Features of anaphylaxis (past or present)
Examination • Skin o Normal, weals or rash o Swelling less well defined than in urticaria – can affect the eyes, lips, genitalia, hands and/or feet o Swellings are more painful than itchy – can take up to 72h to resolve • Respiratory symptoms o Stridor, wheeze, breathlessness • Signs of circulatory collapse • Consider dx of anaphylaxis
Henoch Schonlein purpura/ IgA vasculitis ix
• BP
o Necessary to assess renal involvement
o Monitor for at least 6-12m
o May be normal or elevated
• Urinalysis
o Early morning urinalysis for renal involvement
o Determines presence of haematuria + quantifies urine protein: creatinine ratio
o May show RBC, proteinuria, casts
o Monitor for at least 6-12m
• Serum Cr + electrolytes
o To determine renal function using eGFR
o Elevated Cr indicates renal impairment or renal failure
• FBC + coagulation studies
o Normal in IgAV
o Used to exclude other causes (e.g. abnormal coagulation studies + low plt counts in septicaemia or immune thrombocytopenia)
• Abdo US
o Indicated for severe abdominal pain to evaluate for intussusception or perforation
• Renal biopsy
o IgA deposition in the mesangial region
o Performed if pt has
• Severe proteinuria (>250 mg/mmol for at least 4w)
• AKI with worsening renal function
• Nephrotic pt (heavy proteinuria, hypoalbuminaemia, oedema)
• Nephritic pt (impaired eGFR, hypertension, haematuria/proteinuria)
