Paeds - Investigations Flashcards

Question

Mumps ix

Answer 1

``` • 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

Answer 2

* 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

Answer 3

• 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

Answer 4

• 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

Answer 5

``` Obs Abdominal examination Inspection of the perianal area Spine/lumbosacral region/gluteal examination Lower limb neuromuscular examination ```

Answer 6

• Chemistry panel o Severe cases – hypochloraemic alkalosis + mild hypokalaemia • US abdomen o Pyloric muscle thickness >4mm o Pyloric canal length >17mm

Answer 7

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 ```

Answer 8

• 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

Answer 9

• 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

Answer 10

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

Answer 11

• 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

Answer 12

• 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

Answer 13

• 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

Answer 14

• 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

Answer 15

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

Answer 16

educational psychological assessment – confirmation of diagnosis

Answer 17

MDT assessment – confirmation of dx

Answer 18

Clinical diagnosis | MRI brain – variable malformations

Answer 19

• 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)

Answer 20

``` • 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

Answer 21

• 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

Answer 22

• 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

Answer 23

• 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

Answer 24

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 ```

Answer 25

• 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)

Answer 26

• Dx made by clinical examination (see above) • Genetic testing o To confirm dx in patients who do not meet diagnostic criteria or for family planning purposes o Mutation of TSC1 or TSC2 gene • Neurodevelopmental testing o Impaired cognitive functioning with diminished developmental level + IQ • EEG o Performed at dx of TSC-suspected seizure • ECG o Performed at dx + every 3-5 years in asymptomatic individuals o Premature atrial + ventricular contractions, WPW syndrome • Echo o Performed at dx + every 1-3 years until regression of cardiac rhabdomyomas are documented • Brain MRI o Performed at dx + every 1-3 years until 25y/o o Calcified SENs, SEGAs, cortical tubers • Cortical tubers are composed of both glial + neuronal cells with dysplastic cells of mixed lineage (giant cells) • Abdominal MRI o Performed at dx + every 1-3 years routinely o Renal angiomyolipomas, renal cysts, may show aortic aneurysm or extrarenal hamartomas of liver, pancreas, or other abdominal organs • Women >18 to evaluate for lymphangioleiomyomatosis o Chest CT every 5-10y o Once cysts are detected, high-resolution chest CT testing should be obtained every 2-3 years along with o annual pulmonary function test + 6 minute walk test to determine rate of progression • Dilated fundoscopic ophthalmological examination – retinal nodular hamartomas

Answer 27

* No specific tests for dx * HLA-B27 positive * Seronegative spondyloarthropathy * ESR + CRP high * FBC acute phase: normocytic anaemia, mild leucocytosis, thrombocytosis * Synovial fluid examination -  WCC (required to rule out septic/crystalline arthritis) * Microbial cultures (Stools, throat, urogenital tract) – causative organism * Nucleic acid amplification tests – may be positive for Chlamydia trachomatis or Neisseria gonorrhoeae * XR normal at early stages of disease, may show proliferation at sites of tendon insertion, marginal erosions w adjacent bone proliferation in hands and feet in advanced disease, asymmetric sacroiliitis, enthesopathy * US of extremities – synovial hypertrophy, increased vascularity * MRI – sacroiliitis or enthesopathy * To rule out other forms of arthritis – ANA, rheumatoid factor

Answer 28

• FBC o WBC within normal range but may be slightly elevated (<12,000 cells/mm3) o If >12,000 cells/mm3 consider septic arthritis • ESR, CRP o Within normal range but may be slightly elevated o If grossly elevated, consider septic arthritis • Hip XR o Used to rule out other disorders e.g. Perthes disease, fractures, tumours, osteomyelitis o Typically normal o May reveal subtle signs early in the disease process – capsular distension, joint space widening, diminution of the definition of soft tissue planes around the hip joint, slight de-mineralisation of the bone of the proximal femur • US for guiding needle aspiration if septic arthritis has to be excluded but joint aspiration plays no role in the dx of transient synovitis • If septic arthritis is being considered as a ddx o joint aspiration + fluid sent for cell count + culture/Gram stain o blood cultures

Answer 29

• Joint aspirate (synovial fluid sample) o Before abx o Turbid yellow o Low viscosity o Increased WCC (>100,000 WCC per mL, neutrophils >75%) o MC+S • Blood culture + sensitivity – before abx • Bloods -  WCC, CRP, ESR • LFTs + U+Es – baseline parameters, help assess for sepsis + end-organ damage as these may influence abx choice Other ix • Procalcitonin – raised in the presence of bacterial endotoxin – can help discriminate between bacterial + non-bacterial inflammation (e.g. rheumatoid rthritis) • XR – increased joint space, degenerative changes, chondrocalcinosis, not urgent as it is nondiagnostic • US – can detect early effusions + guide joint aspiration • CT+ MRI – if suspecting osteomyelitis • Urine dipstick, MCS – pt w recurrent UTIs or indwelling catheters - ? haematogenous spread of infection • ELISA for borrelia burgdorferi – if suspecting lyme disease • Swabs + cultures from any other sources of potential infection identified on hx + examination before giving antibiotics * If you suspect septic arthritis in a prosthetic joint – refer to orthopaedic surgeon bc arthrocentesis should be performed in a sterile operating theatre * Absence of WCC, CRP, ESR, negative synovial fluid MC+S does not exclude the dx of septic arthritis

Answer 30

• Pelvic XR o Frog leg lateral view  Hip flexed + extended to help visualise the joint  More sensitive than AP XR  Klein line in this view may be similar to that in AP radiographs  Pre-slip phase – widening of the growth plate with irregularity + blurring of the physeal edges + demineralisation of te metaphysis  Acute slip – posteromedial slip of the epiphysis – in reality, it is the neck of femur which moves anterolaterally  Chronic slip – physis becomes sclerotic + the metaphysis widens (coxa magna) o Bilateral AP XR  Klein line does not intersect the femoral head (Trethowan sign) o Widened joined space o Displaced femoral head posteroinferiorly • Viva – what are the XR findings? o Trethowan sign = line of Klein does not intersect superior femoral epiphyses/ asymmetry between line of Klein on either side • Other ix o Metabolic panel – ?renal osteodystrophy o Serum TFTs - ?hypothyroidism o Serum GH - ?GH deficiency On examination • Obligatory external rotation on hip flexion

Answer 31

• Bloods o FBC – pancytopenia suggests bone marrow metastases – may need blood or platelet transfusions prior to biopsy o U+Es – electrolyte abnormalities due to tumour lysis syndrome may be present – should be treated prior to a course of chemo o Cr + Urea – may be elevated if renal vasculature is involved o LFTs – may be elevated if liver mets o LDH – may be elevated • Urine catecholamines o Part of the initial evaluation o Highly sensitive + Specific for neuroblastoma o Would expect to see increased urine catecholamines in neuroblastoma o Catecholamine degradation products homovanillic acid (HVA) + vanillylmandelic acid (VMA) are secreted by the majority of tumours + can be detected in the patient’s urine o If elevated at dx, levels should be assessed regularly during treatment + as part of end-disease surveillance • Imaging o Ultrasound abdomen  Should form part of the initial work-up in all patients with suspected neuroblastoma as the most common presentation is an abdominal mass • Heterogenous mass with internal vascularity • May show calcifications or areas of necrosis • Rarely shows tumour extension into the lumen of the renal vein + IVC  Can confirm presence + location of mass  If mass is detected – further imaging of the abdomen (CT, MRI) o CT  Should be considered in all patients with suspected neuroblastoma as part of the initial investigation  Abdomen, chest, pelvis should be scanned depending on location + primary site (based on hx, exam, US)  Heterogenous mass, may show calcifications or areas of necrosis o MRI  Ordered as an alternative to CT in all patients with suspected neuroblastoma involving the spinal cord or paraspinal locations as part of the initial evaluation  Abdomen, chest, pelvis should be scanned depending on location + primary site (based on hx, exam, US)  A brain/orbit scan may be required if clinically indicated  Heterogenous mass, may show calcifications or areas of necrosis • Biopsy of the primary site (or bone marrow for staging purposes) o Histological confirmation is required for dx o Carried out after initial imaging o If localised tumour - complete resection may be attempted at the time of biopsy o Tissue must be evaluated for MYCN status + DNA ploidy o Establish biology (i.e. cytogenetics, pathology)  Cytogenetics shows MYCN gene amplification o Risk stratification • To assess for metastatic disease o Bilateral BM aspiration + biopsy – should be performed in all patients to assess for bone marrow metastases o MIBG scan (thyroid protection with KI should be given prior to all MIBG infusions) – 1st line o 18-FDG-PET o Radionuclide bone scan • Staging o Image define risk factors (IDRFs) o Determined at the time of dx, prior to surgery

Answer 32

Fundoscopy + EAU o Chalky, white-grey retinal mass o May show retinal detachment with retinal vessels visible behind the lens o May show vitreous and/or subretinal seeding • sdOCT (wide field fundus photography and spectral domain optical coherence tomography) o allows for acquisition of high-quality retinal images o includes the capability to perform fluorescein angiography as needed for ocular examination to differentiate retinoblastoma from other disease entities o establishes anatomic stability of the macula and fovea o images document small areas of tumour growth, subtle vitreous seeds, frank + subtle subretinal fluid o can be used in an operative setting on anaesthetised patients o Retinal tumours noted and documented relative to optic nerve + fovea o Presence of exudative retina detachment, vitreous + subretinal seeding o Notes normal or abnormal foveal contour + may be exquisitely sensitive to document marginal tumour recurrence • ophthalmic A and B scan US o A scan reveals variable or high internal reflectivity o B scan typically reveals a mass filling the globe with calcification + accompanying shadowing • genetic testing for RB1 gene mutation • MRI head/orbit o Not necessary for the dx of retinoblastoma itself o If bilateral retinoblastomas  MRI brain to exclude possible presence trilateral retinoblastoma (concomitant pinealoma – primitive neuroectodermal tumour (PNET) in the pineal gland) • If metastatic disease is suspected • In patients who undergo enucleation + are found to have tumour at the cut section of the optic nerve o Bone marrow aspiration o LP

Answer 33

• Abdominal US w Doppler o Initial test of choice for presumptive diagnosis o Establishes origin of the mass, and the presence of a normal contralateral kidney to ensure disease is unilateral, rules out involvement of the renal vein + inferior vena cava • Biopsy • FBC o Most commonly anaemia o Normocytic normochromic – more common, secondary to tumour haemorrhage o Microcytic – iron deficiency secondary to blood loss from haematuria o May also result from chemotherapy induced BM suppression o Rarely polycythaemia due to the ectopic production of EPO • Renal function – normal or  serum Cr • LFTs – may identify cholestasis 2o to hepatic mets • Urinalysis – gross or microscopic haematuria • Serum total protein/albumin – normal or low due to poor oral intake • Coagulation studies – may be prolonged (aptt) if tumour causes acquired vWD disease • Serum calcium level – normal or elevated due to bone mets. or  PTH from a more aggressive renal tumour • CXR – initial screen for pulmonary metastasis but is also useful for disease surveillance at follow-up • CT/MRI abdo +/- contrast - confirms US findings + defines extent of the tumour (rules out intra-abdominal tumour spread) for staging, identifies metastatic disease in the pelvis (e.g. lymph nodes, varicocele (tumour thrombus in the pelvic veins) • CT/MRI chest +/- contrast – documents any lung mets., tumour thrombus in the RA, hilar or mediastinal lymphadenopathy, airway compression • Genetic testing o WT1 deletions • To exclude metastatic disease – US + CT/MRI

Answer 34

• Dx made on physical examination • Screening for undescended testes should be carried out in male infants o Within 72h of birth o At 6-8 w of age • Re-examination should be carried out at 4-5 months of age if testes have previously been found undescended, to assess for spontaneous descent History • Whether the baby or infant was born at term or pre-term. o In pre-term infants the testis may still be descending at the time of delivery. o At term, about 50% of infants will complete testicular descent by 12 weeks after birth. • RF  genetic or endocrine disorders, or hx of previous inguinal hernia surgery • Whether the testis has ever been palpable in the scrotum. o Retractile testis (normal variant)  If the testis is palpable during a warm bath o Ascending testis  If the testis was present in the scrotum at birth but is no longer palpable o Ectopic testis  any lump has been noticed in another location Examination • Inspection of external genitalia for any abnormalities o ?disorder of sexual development  An undescended testis with hypospadias (penile abnormality) or bifid or unfused scrotum o ? endocrine abnormality (e.g. CAH)  Bilateral impalpable undescended testes with ambiguous genitalia • Inspect the scrotum for symmetry, size, and colour • Palpate the scrotal sac on each side to assess whether the testis is in the proper scrotal position, its size, and consistency o Occlude the external inguinal rings in the groin with digital pressure (to prevent retraction of the testis with a cremasteric response). • If the testis is not located in the scrotal sac and there is a suspected undescended testis, use the fingers to 'milk' from the external ring to the scrotum along the inguinal canal to try to palpate the testis o Once located, assess whether the testis can be moved to the scrotum. o Undescended testis  Cannot be palpated or manipulated into the base of the scrotum o Retractile testis  Can be manipulated into the base of the scrotum, but retracts back to an inguinal position after a variable time following manipulation • If there is a suspected unilateral non-palpable testis, examine the contralateral testis. o Compensatory hypertrophy of the contralateral testis  testicular absence or atrophy o Comparing the scrotal testis to the glans penis (usually approximately the same size) Compensatory hypertrophy is likely if the scrotal testis > glans penis • If the testis is not present in the scrotum or inguinal region, examine for an ectopic testis in the femoral, penile, and perineal regions • Do not arrange imaging investigations such as ultrasound in primary care if testis is not palpable.

Answer 35

``` • ECG • Echo • FBC – anaemia, thrombocytopenia o Platelet depletion 2o to ineffective production or due to sequestration in an enlarged and/or myelodysplastic spleen • Coagulation profile • Molecular genetic testing – may be necessary when dx is equivocal or for family reasons • Thorough ophthalmology evaluation • For the uncommon sx – abdo + renal US ```

Answer 36

* Chromosomal karyotype – 1st line ix * Evaluation by a paediatric cardiologist + echo – recommended in all newborns with DS even in the absence of a murmur * Ongoing developmental assessment (physical, occupational, language, social) to determine challenges + strengths due to global developmental delay in gross motor, fine motor, language areas * Screening + clinical observation of symptoms suggestive of ASD * Psycho-educational evaluation once they enter school (cognitive, adaptive, achievement) to provide appropriate educational resources + therapies to maximise the child’s potential * AXR for GI defects in any newborn presenting with vomiting, abdo distension, delay in stool passage * Hearing evaluation (+ear examination), TFTs – at birth, at 6m, 12m, annually * Vision examination – at birth(?congenital cataracts), 6m, 12m, annually until 5y, every 2y 5-13, every 3y 12-21 * Hb – should be obtained at 1y of age + annually thereafter (lower dietary intake of Fe in DS) * Dental examination – at 2y of age or earlier + continued every 6m * Polysomnography – baseline by age of 4 years * Cervical spine XR if myelopathy due to atlanto-axial instability is suspected

Answer 37

• Karyotype – 45XO Other • Audiology testing • Echo • BP in all 4 extremities to assess for possible aortic coarctation as a cause of HTN • Bone age to assess potential for growth – mild delay, typically 2 years less than chronological age • POI – FSH, AMH o If ovarian failure, FSH levels elevate into the menopausal range at the age of normal puberty • TVUS – immature uterus, streak ovaries • Annual screening for diabetes risk – fasting glucose, HbA1c

Answer 38

• Pattern of bedwetting o How many nights a week + how many times a night o Quantity of urine passed o Times of night that bedwetting occurs o Whether the child wakes up after bedwetting • Fluid intake throughout the day o Are the parents restricting fluid intake owing to bedwetting?  Inadequate fluid intake may mask an underlying bladder problem e.g. OAB + may impede the development of an adequate bladder capacity o 2-week diary of the person’s fluid intake, bedwetting, toileting patterns  May involve weighing nappies to understand how much urine the child is passing at night vs during the day • Home situation o If there is easy access to the toilet at night o Whether the child or young person shares a bedroom – may affect the decision to use an enuresis alarm • Reason for consultation o Reassurance – bedwetting is considered to be normal in children <5 o Short term treatment (for a sleepover or school trip) or long term treatment • Whether the child and parents are willing or able to take part in behavioural interventions • How the parents are coping – do they need support? • If child <5 years – assess for constipation

Answer 39

• Pattern of bedwetting o Do daytime sx only occur in certain situations? o Does the child avoid toilets at school/other settings? o Does the child go to the toilet more/less frequently than his/her peers • Fluid intake throughout the day o Are the parents restricting fluid intake owing to bedwetting?  Inadequate fluid intake may mask an underlying bladder problem e.g. OAB + may impede the development of an adequate bladder capacity o 2-week diary of the person’s fluid intake, bedwetting, toileting patterns  May involve weighing nappies to understand how much urine the child is passing at night vs during the day • Underlying cause o Chronic constipation o UTIs o Congenital malformations – examine the child’s back to look for signs of congenital spinal malformations e.g. dimples or hairy patch • Whether the child and parents are willing or able to take part in behavioural interventions • How the parents are coping – do they need support?

Answer 40

• Pattern of bedwetting o When did it start  Last few days/ weeks - ?systemic illness (e.g. UTI), ?change in the child’s environment (e.g. bullying, abuse) o How many nights a week + how many times a night o Quantity of urine passed o Times of night that bedwetting occurs o Whether the child wakes up after bedwetting • Underlying cause o Constipation o DM o UTI – ask about how many episodes per year? Recurrent? o Behavioural + emotional problems – may cause or be a consequence of bedwetting o Family problems – difficult or stressful environment may be a trigger for bedwetting o Child maltreatment • 2- week diary of the child’s fluid intake, bedwetting, toileting patterns

Answer 41

General assessment • If <5 – ask whether daytime toilet training has been attempted o If it hasn’t been attempted, determine reason • Determine the type of bedwetting the child or young person has o Daytime symptoms (see above) o Have they been previously dry at night without assistance for 6 months? • Include the child in the assessment o Do you think there is a problem? o What do you think is the main problem? o What are you hoping that the treatment will achieve? ``` • Urinalysis o Do not perform routinely o Perform only if the following apply  Bedwetting started in the past few days/ weeks  Daytime sx  Signs of ill health  Hx, sx, signs suggestive of UTI  Hx, sx, signs suggestive of DM ```

Answer 42

• ABC • Obs o Temp, HR, RR, CRT o BP if HR/CRT are abnormal o Temperature  <4w – measure body temperature with an electronic thermometer in the axilla  4w-5y – electronic thermom eter/chemical dot thermometer in axilla, infra-red tympanic thermometer  Do not use duration of fever to predict likelihood of serious illness  Children with a fever >5d – assess for Kawasaki disease • Look for a source of fever + check for the presence of symptoms + signs that are associated with specific diseases • History taking o Onset, duration, pattern, method of temp. measurement o Any associate sx suggesting an underlying cause of fever o Significant medical conditions e.g. immunosuppression, immunodeficiency o Recent antipyretic drug and/or antibiotic use o Child’s immunisation hx, any missed immunisations o Any recent foreign travel o Any recent contact with people with serious infectious diseases o Parental/ carer health beliefs about fever + previous family experience of serious febrile illness (may  parent/carer anxiety)

Answer 43

* FBC * Blood culture * CRP * Urinary testing for UTI * If resp. signs present - CXR * If diarrhoea present – Stool culture

Answer 44

``` If >1 red features • FBC • CRP • Blood culture • Urinary testing for UTI Consider • LP • CXR • Serum electrolytes • Blood gas ``` ``` If >1 amber features • FBC • CRP • Blood culture • Urinary testing for UTI • LP if <1y • CXR if >39oC + WBC >20x10^0/l ``` If only green features • Urine testing for UTI • Assess for signs + sx of pneumonia • Do not routinely perform blood tests + CXR

Answer 45

``` • Infants <1m • All infants 1-3m who appear unwell • Infants 1-3m with o WCC <5x10^9 /l o WCC >15x10^9 /l ``` • Always perform LP before the administration of antibiotics

Answer 46

• Very urgent direct access XR (to be performed within 48h) o Radiolucent lesion with areas of mottled radiodensity and ill-defined margins o Neoplasms usually located in the metaphysis of long bone •  Serum ALP (not diagnostic) •  Serum LDH (not diagnostic) • Bone biopsy • CT o Matrix production by the tumour o Extent of cortical destruction o CT guided biopsy – if tissue obtained is not diagnostic, an open biopsy is required • MRI with gadolinium contrast o Test of choice to evaluate tumour extension within the bone and soft tissue o Identifies skip metastases • Staging o CT thorax  Lungs + skeleton are the primary sites of metastases o Radionuclide bone scan  Will reveal approximate extent of primary lesion + highlight any skip or distant mets. • FDG-PET-CT – can be useful for the identification of distant mets. in a newly diagnosed patient

Answer 47

• If fever/ to assess risk of serious illness o Measure T, HR, RR, CRT o Effort of breathing, colour of the skin, lips, and tongue, and the appearance of the mucous membranes o Use traffic light system to assess low/ intermediate/ high risk

Answer 48

o Before abx o Clean catch urine sample o Urine collection pads o Catheter samples o Suprapubic aspiration – before this is attempted, US guidance should be used to demonstrate the presence of urine in the bladder o Do not delay treatment in a child with a high risk of serious illness if a urine sample cannot be obtained.

Answer 49

o If unexplained fever >38oC –within 24h o If symptoms or signs of UTI o Children with an alternative site of infection should not have a urine sample tested  Test urine sample if infants + children with an alternative site of infection remain unwell after 24h

Answer 50

within 24h + consider referral to paediatric specialist if o Fever >38oC o Sx acute pyelonephritis/ upper UTI o High to intermediate risk of serious illness o <3m o >3m + leukocyte esterase or nitrites or both positive o Leukocyte esterase or nitrites positive o Previous UTI o Recurrent UTI o Infection not responding to treatment within 24-48h o Clinical sx + urine dipstick not correlating

Answer 51

• <3m o Urine M+C o Refer urgently to a paediatric specialist for treatment with parnteral abx • >3m – 3y o Urine dipstick o M+C if above criteria • >3 o Urine dipstick o M+C if above criteria

Answer 52

Bacteriuria +ve, pyuria +ve UTI, Treat Bacteriuria +ve, pyuria -ve UTI, Treat Bacteriuria -ve, pyuria +ve Treat if clinical sx of UTI Bacteriuria -ve, pyuria -ve Not a UTI o Bacteruria = bacteria in the urine +/- UTI o Bacteriuria confirms the dx of UTI o Pyuria in the absence of bacteriuria may indicate UTI

Answer 53

o Routine use in the localisation of a UTI is not recommend o Power Doppler US – in the rare instances when it is clinically important to confirm or exclude acute pyelonephritis/ upper UTI

Answer 54

 all children if Atypical UTI |  <6m + Recurrent UTI

Answer 55

 <6m + first-time UTI that responds to treatment  MCUG if abnormal  >6m + Recurrent infections

Answer 56

 <3y + Atypical or Recurrent UTI |  >3y + Recurrent UTI

Answer 57

```  <6m + Atypical UTI  <6m + Recurrent UTI  6m-3y + atypical or recurrent infections if • Dilatation on US • Poor urine flow • Non E. coli infection • FHx of VUR o If MCUG needs to be performed  Prophylactic abx PO for 3/7  MCUG to take place on day 2 ```

Answer 58

• Low Hb – MAHA is a component of DIC • Low Plt count o Low due to excessive consumption • PTT - 14s - prolonged o Measures extrinsic + common pathways o Affected by warfarin, liver disease • APTT (activated partial thromboplastin time) - 34s - prolonged o Measures intrinsic + common pathways o Affected by heparin, haemophilias, von Willebrand disease o Unpredictable o Often prolonged • Low Fibrinogen o Low due to excessive consumption • Raised D-dimer/fibrin degradation products o Evidence of plasmin-mediated biodegradation of fibrin + fibrinogen • Blood film – schistocytes (MAHA) • Factor V, VIII, X, XIII - low o Ix to consider o If specific/multiple coagulation factor deficiencies are suspected, measurement of coagulation factors helps in choosing a specific replacement therapy * Other findings – high soluble fibrin, low natural anticoagulants (antithrombin, protein C) * PT + APTT  PROLONGED

Answer 59

• All patients ≥10 years of age with non-transfusion-dependent thalassaemia syndromes should have o Magnetic resonance evaluation for iron overload status at 1- to 2-year intervals o Serum ferritin levels should be measured every 3 months ``` Blood o FBC o Low Hb o Low MCV, Low MCH, Low MCHC o RaisedRBC o Raised reticulocytes o WBC raised from bone hyperplasia o Platelet count may be low in splenomegaly or raised in bone hyperplasia ``` ``` • Blood film o Microcytic, hypochromic anaemia o Reticulocytes o Target cells o Increased polychromasia o Red cell fragments o Tear drops ``` • Haemoglobin analysis o Beta thalassaemia trait – mostly HbA, raised HbF, raised HbA2 o Beta thalassaemia intermedia - low HbA, raised HbF, raised HbA2 o Beta thalassaemia major – minimal/no HbA, raised HbF, raised HbA2 • LFTs o Performed in patients with beta-thalassaemia intermedia + major o raised unconjugated bilirubin  jaundice, gallstones o raised LDH • Abdominal US – Hepatosplenomegaly Imaging • Skull XR – “hair-on-end” appearance, facial deformity and non-pneumatisation of the maxillary sinuses Investigations to consider • Genetic testing o Confirms dx + useful for future family screening • HLA typing o If SCT is a consideration o Tells us degree of match between patient and siblings

Answer 60

• FBC + blood film o Isolated thrombocytopenia (<100 x 10^9 /L) o Normal morphology of RBC, WBC • Clotting screen (normal PT, APTT, fibrinogen) • No testing for ab or BM examination  Autoantibodies (antiplatelet antibody may be present but not used routinely for diagnosis, anticardiolipin antibody, antinuclear antibody) • Other ix o TFTs – hyper or hypothyroidism can cause thrombocytopenia o Quantitative immunoglobulins – may reveal common variable immunodeficiency or selective IgA deficiency

Answer 61

• All patients ≥10 years of age with non-transfusion-dependent thalassaemia syndromes should have o Magnetic resonance evaluation for iron overload status at 1- to 2-year intervals o Serum ferritin levels should be measured every 3 months ``` Blood • FBC o Low Hb o Low MCV, Low MCH o Raised RBC o Raised reticulocytes o WBC  from bone hyperplasia o Platelet count may be  in splenomegaly or  in bone hyperplasia ``` ``` • Blood film o Microcytic, hypochromic anaemia o Reticulocytes o Target cells o  polychromasia o Red cell fragments o Tear drops o Basophilic stippling ``` • Bone marrow o Hypercellular with erythroid hyperplasia * raised serum Fe * raised ferritin • Electrophoresis and Hb fractionation by high performance liquid chromatography o Presence of HbH or Hb Bart o Will not pick ap a thal silent or alpha thal trait • If microcytosis is found  tests for iron deficiency + anaemia of chronic disease, testing for thalassaemia considered in patient of appropriate family origin Imaging • Skull XR – “hair-on-end” appearance, facial deformity and non-pneumatisation of the maxillary sinuses • CXR may show an enlarged heart + cardiac failure • CT/MRI – used to evaluate amount of iron in the heart, liver in patients on chelation therapy Other tests • ECG + echo – monitor cardiac function • Liver biopsy to assess iron deposition + degree of haemochromatosis • Electrophoresis – only for diagnosing HbH + Hb Bart HbH • Brilliant cresyl blue staining of RBC o HbH inclusions in peripheral RBC  Heinz bodies represent β-chain tetramers o Heinz bodies, target cells, splenomegaly • HbH is unstable + precipitates in the erythrocyte, giving it the appearance of a golf ball

Answer 62

Tested for in the Guthrie test on day 5-7 as part of the national newborn screening programme in the UK Note – *if child moved to the UK from another country, they might not have had the test done Diagnosis made during a sickle cell crisis if there is no newborn screening • FBC o Median Hb concentration of about 90g/L (Hb is in the range 60-80 g/L) o In patients with very low reticulocyte counts (<1%), parvovirus infection should be strongly considered • Normocytic anaemia • Normal MCV (80-100) • Increased reticulocyte production index >2% Due to intravascular + extravascular haemolysis • Raised LDH • Low haptoglobin + Low free plasma Hb • raised Unconjugated bilirubin • Blood film o High reticulocyte count (do not have a nucleus, but you can see the rRNA staining) o Nucleated RBC o Anisocytosis o Sickle cells o Howell Jolly bodies (usually removed by spleen, so here they are sign of hyposplenism) o Target cells (hyposlenism) o Reticulocytes  in haemolytic crises +  in aplastic crises To confirm dx • Hb Electrophoresis o Most commonly used test to determine the presence of HbS • DNA based assays/ high performance liquid chromatography o Confirm diagnosis + further identify the genotype o Allow distinction between heterozygotes + homozygotes Other tests • Sickle solubility test – a mixture of HbS in a reducing solution (e.g. sodium dithionite) gives a turbid appearance (precipitation of HbS), whereas normal Hb gives a clear solution • Sickling of red cells on blood film with 2% sodium metabisulphite

Answer 63

• History – clinical features of the acute complications of sickle cell disease o Skeletal pain o Painful, swollen joints – ?acute bone infarction during an acute pain crisis, ?septic arthritis o Dactylitis (painful swelling of the bones of the hands and feet) o Acute osteomyelitis — fever, persistent pain localized to one area • Precipitating factors such as cold, dehydration, or exertion • Abdominal pain o Causes of abdominal pain that are common in people with sickle cell disease (sequestration sx, mesenteric syndrome, constipation, gallstone complications, infective aetiologies (pyelonephritis, intra-abdominal abscess, diverticulitis), dysmenorrhoea o General surgical pathology o Consider that pain may be secondary to gallstones (which are common), ascending cholangitis, acute cholecystitis, gallbladder empyema, or acute pancreatitis. o Acute hepatic sequestration – large and tender liver, pallor, abdominal distension, and circulatory collapse (infrequent) • Fever o A crisis may also be associated with an acute febrile illness due to infection o Fever may present alone with no signs of infection. • Respiratory symptoms o Acute chest syndrome – Chest pain, cough, SOB, fever • Neurological symptoms o Headache, seizures, focal neurological signs, visual impairment, altered consciousness, and acute deterioration in cognition. • Acute renal failure o Precipitated by dehydration, sepsis, or certain drugs (e.g. NSAIDs) • Acute priapism o Duration of the episode, presence of pain, previous episodes and their treatment, any trauma, and medication • Acute priapism becomes a surgical emergency if it has been present for more than 3 hours. • Examination o Temperature o Pallor o Jaundice  Due to haemolysis  If acute abdominal pain - ?gallstones o Painful, swollen joints, presence of localized warmth, tenderness o Splenomegaly o Acute splenic sequestration  Pallor, shock, tachycardia, and lethargy  Increase in spleen size – Because it is most common in young children, parents are taught to palpate the spleen ``` • Investigations o FBC differential and reticulocyte count o Renal tests o LFTs o Cultures of blood, urine, and any other potential site of infection o X-ray o CT scan o MRI scan ```

Answer 64

• History o Symptoms • If severe, ask about specific cardiac symptoms o PMH • Overt bleeding heavy bruising, blood donation • Recent illness – might suggest underlying GIB • Menstrual hx • Travel hx -  risk of hookworm in travellers to the tropics • Weigh loss o Diet - ? poor iron intake o Drug history – use of aspirin, NSAIDs, SSRIs, clopidogrel, CS o FHx • Examination for signs of anaemia • Ix o FBC • Hb <120g/l in children 12-14 is anaemia o  Ferritin level • Correlates with relative total body iron stores • Low levels = low stores • <30mcg/l = confirmed dx of iron deficiency • Acute phase protein – can be elevated in infection or inflammation even in the presence of iron deficiency o Consider testing for vitamin B12 + folate if • The anaemia is normocytic with a low or normal ferritin level • There is an inadequate response to iron supplements in proven iron deficiency anaemia and no reason for this (e.g. poor compliance) is apparent • Vitamin B12 or folate deficiency is suspected (e.g. dietary deficiency, malabsorption) o Blood film • Microcytic RBC • Hypochromic RBC • Anisocytosis • Poikilocytosis • Pencil cells • Additional ix for people diagnosed with iron deficiency anaemia o Screen for coeliac disease using coeliac serology (presence of anti-tissue transglutaminase antibodies) o Test urine for blood o Consider stool examination to detect parasites if appropriate from the person’s travel hx

Answer 65

• APTT o Prolonged (intrinsic pathway affected) o Corrects with mixing o APTT measures the integrity of the intrinsic pathway (Factors XII, XI, VIII, IX) • Plasma factor VIII + IX assay o Decreased or absent o Severity based on the level of factor present • Chromogenic substrate assay o Based upon factor VIII-dependent factor X activation o Similar to a clotting assay • AN diagnosis o Women who are carriers and are at risk of having a child with haemophilia o DNA based analysis of the X chromosome via amniocentesis or CVS o If mutation is known  direct mutation analysis o If mutation not already known  gene sequencing o Pre-implantation diagnosis also possible • XR o Have been traditionally used to describe the clinical progression of arthropathy o May demonstrate acute joint bleeding (hemarthrosis) or bone changes more consistent with chronic arthropathy * FBC – anaemia if significant bleeding, performed to rule out thrombocytopenia * PT, bleeding time, fibrinogen levels, von Willebrand factor  normal (extrinsic pathway not affected) * Mixing study – correction of the APTT with mixing patient plasma w normal plasma suggests coagulation factor deficiency For complications CT head – haemorrhage MRI, Doppler US – arthropathy Abdominal US + endoscopy + colonoscopy – GIB

Answer 66

Kocher's criteria is used to assess the probability of septic arthritis in children using 4 parameters: * Non-weight bearing - 1 point * Fever >38.5ºC - 1 point * WCC >12 * 109/L - 1 point * ESR >40mm/hr The probabilities are calculated thus: * 0 points = very low risk * 1 point = 3% probability of septic arthritis * 2 points = 40% probability of septic arthritis * 3 points = 93% probability of septic arthritis * 4 points = 99% probability of septic arthritis

Answer 67

• FBC - raised WCC (infection), low WCC (HIV) • LFTs - raised in CMV, EBV, tick-borne disease, Coxiella burnetiid, rickettsia • Blood cultures – detection + confirmation of systemic bacterial infections + most arboviral infections • Throat swab, Nasopharyngeal aspirate – detection of viruses • Sputum culture – if febrile illness + pulmonary symptoms or signs • Stool culture – if GI sx precede the development of encephalitis • MRI > CT • CSF analysis o Indications – 2/4 of  Fever  Headaches  Altered mental status of unknown aetiology  Meningismus • CSF culture – bacteria, fungi o Antigen stain o Gram stain o Acid-fast stain – TB o India ink – cryptococcus • CSF PCR – viruses • CSF serology

Answer 68

• Examination o Distressed, agitated, uncomfortable child – itchy and panful rash o Rash  Well defined areas of confluent erythema  Scattered papules over convex surfaces in contact with the nappy (buttocks, genitalia, suprapubic area, upper thighs)  Sparing the inguinal skin creases + gluteal cleft  Glazed appearance – acute  Fine scaling – more long-lasting  There may be skin erosions, oedema, ulceration if severe o Features that may suggest 2o infection esp. if the rash is persisting with skin care measures  Candida • Sharply marginated bright red patches or plaques around perianal skn • May involve perineum, genitalia, thighs, abdomen • Confluent zones of papules and pustules typically spread into skin folds • Involves inguinal creases • There may be collarettes of scale and satellite lesions  Bacterial • Marked redness with exudate • Papules, pustules, blisters, folliculitis, possible abscess if severe o Oral candidiasis – if present + untreated  likelihood of candida infection + recurrent nappy rash • Skin swab o Not normally needed to make a dx of uncomplicated nappy rash o C+S if secondary bacterial infection is suspected, esp. if nappy rash is severe

Answer 69

• GCS • Blantyre coma scale o Modification of GCS for use with children who are too young to talk o Max score 5, score <2 = unrousable coma https://www.researchgate.net/profile/Jo-Wilmshurst/publication/260110686/figure/tbl1/AS:613515157053474@1523284820382/The-Blantyre-Coma-Scale-92.png • Confirmation of the diagnosis o Giemsa stained thick and thin blood films  Gold standard  Thick – presence of parasites, estimate parasitemia  Think films – species identification, quantify parasitemia o Antigen detection test o If blood tests are negative  further blood testing 12-24h later + again a further 24h later to rule out infection • Other ix o FBC -  plt, anaemia o LFTs – unconjugated hyperbilirubinemia o U+Es – dehydration, renal failure in severe infection o Urinalysis – proteinuria, urobilinogen + conjugated bilirubin  In severe P. falciparum infections, massive haemolysis combined with acute tubular necrosis produce acute renal failure with haemoglobinuria + proteinuria o Serum BG – Hypoglycaemia o ABG – metabolic acidosis or lactic acidosis in severe disease

Answer 70

• Blood culture o Definitive dx • FBC - low WCC, low plt, low Hb • raised LFTs

Answer 71

• FBC - low WCC, low thrombocytopenia, high Hct • high LFTs • Serum albumin o Hypoalbuminemia  suggests plasma leakage  dengue haemorrhagic fever, dengue shock syndrome • Serology – may be negative in the first 5 days of illness • IgM ELISA, IgG ELISA in the first 5 days of illness • RT-PCR – can be ordered within the first 5 days of illness • NS1 detection (non-structural protein 1)

Answer 72

• Obs (HR, RR, O2, BP, T, CRT) + Neurological assessment (e.g. GCS, AVPU) at least hourly • LP o Primary investigation o WCC + examination o Total protein + total glucose o Gram stain  Gram – ve diplococcus, no haemolysis – Neisseria menigitidis  Gram + ve cocci that are alpha haemolytic – streptococcus pneumoniae  Gram +ve rod – listeria monocytogenes  Gram -ve bacilli – haemophilus influenzae o Microbiological culture • Repeat LP in neonates with o Persistent or re-emergent fever o Deterioration in clinical condition o New clinical findings (esp. neurological findings) o Persistently abnormal inflammatory markers • CT o Use clinical assessment and not CT to identify  ICP o CT if reduced or fluctuating level of consciousness (GCS <9 or drop of >3) or focal neurological signs to detect alternative intracranial pathology o Clinically stabilise children before CT scanning

Answer 73

o CI to LP   ICP – fluctuating consciousness (GCS <9 or drop >3), relative bradycardia + HTN, focal neurological signs, abnormal posture, unequal dilated or poorly responsive pupils, papilledema, abnormal doll’s eye movements  Sock  Extensive or spreading purpura  After convulsions until stabilised  Coagulation abnormalities – plt count <100x10^9/L, receiving anticoagulant therapy  Local superficial infection at the LP ste  Respiratory insufficiency o If CI exist – delay LP until there are no longer CI

Answer 74

o FBC, CRP, BG, blood gas o Coagulation screen, blood culture o PCR for N. meningitidis

Answer 75

Blood • FBC o  Hb (chronic inflammation, chronic blood loss, iron/B12/folic acid malabsorption, ACD) o  platelets (active inflammation) o  WCC (acute/chronic inflammation, abscess, corticosteroid treatment) • Serum vitamin B12/folate + iron studies (serum iron, serum ferritin, total iron binding capacity, transferrin saturation) o Vitamin B12/serum folate deficiency secondary to malabsorption o Iron deficiency secondary to GI bleeding or malabsorption • U&Es – assessment for electrolyte disturbance and signs of dehydration • LFTs incl. albumin-  albumin may suggest protein losing enteropathy •  ESR – suggests chronic inflammation • N/ CRP o Useful for assessing relapse risk o High levels indicative of active disease/bacterial complication • Coeliac serology Stool microscopy + culture (incl. C. difficile protein, Yersinia enterocolitica serology) • To exclude infective colitis/diarrhoea or pseudomembranous colitis • C. diff esp if Hx of recent Abx use • Y enterocolitica – bowel pathogen that causes acute ileitis Faecal calprotectin • Small calcium-binding protein • Concentration in faeces correlates well with the severity of intestinal inflammation o Recommended when considering the differential Dx of IBD or IBS o  in inflammatory processes (i.e. IBD) o Both IBS + IBD can present with long term diarrhoea Endoscopy (colonoscopy, ileocolonoscopic) • Colonoscopy with histology of multiple intestinal biopsy specimens o Classification of disease extent and severity o Discontinuous colonic or ilea inflammation/ ulceration o Cobblestone appearance o Rectal scarring • Can help differentiate UC + CD • Defines presence + severity of morphological recurrence + predicts clinical course • Useful for monitoring malignancy + disease progression • Fistulae and abscesses • Can show mucosal oedema and ulceration with “rose thorn fissures” – occurs when there is a cobblestone mucosa • Transmural chronic inflammation w infiltration of macrophages, lymphocytes, plasma cells • Granulomas with epithelioid giant cells (in blood vessels + lymphatics) OGD + biopsy • For children and young people • Recommended in patients with upper GI symptoms Other ix • MRI of small bowel/ small bowel US or small bowel capsule endoscopy if conventional imagining is non diagnostic • Pelvic MRI for perianal disease • CT for extraluminal complications e.g. abscesses, fistulas • Abdominal US – bowel thickness, dilatation, abscesses, fistulas, strictures • Plain AXR – small bowel or colonic dilation, exclude toxic megacolon - ?obstruction Not mentioned anywhere but may be in MCQs (((CT/MRI/Barium meal follow through • Fibrosis/strictures – string sign of Kantor – part of the intestine looks like a piece of string  incomplete filling of the intestinal lumen (A) • Deep ulceration – rose thorn ulcers (B) • Cobblestone mucosa (C) • Skip lesions • Help in localisation of disease + diagnosing fistulae, abscesses, other extra-mural complications Usually CT, MRI when CT contrast contra-indicated))))

Answer 76

History • Persistent unexplained diarrhoea (frequent loose stools for >4-6 x/week) incl. nocturnal diarrhoea • Faecal urgency, tenesmus, blood, mucus in stool • Abdominal pain/discomfort • Non-specific sx – fatigue, malaise, anorexia, fever O/E • Pallor, clubbing, aphthous mouth ulcers • Abdominal tenderness or mass in RLQ • Perianal pain/tenderness • Perianal/ anal skin tag, fissure, fistula, abscess • Signs of malnutrition – weight loss, faltering growth, delayed puberty • Extra intestinal manifestations – joints, eyes, liver, skin Suspect complications of CD if • Hx of recurrent UTI + passing gas or faeces in the urine - ?fistula • Hx of passing faeces or gas through the vagina - ?fistula • Partial (abdominal colicky pain + distension, diarrhoea due to stasis of bowel contents + bacterial overgrowth) or complete obstruction (severe abdominal pain, vomiting, no flatus, complete constipation) – intestinal stricture

Answer 77

Bloods • FBC o  Hb o  WCC • U&Es – to assess for electrolyte disturbance and signs of dehydration • LFTs – surveillance of PSC •  ESR/ CPR • albumin – may indicate protein losing enteropathy, reflects disease activity + severity as well as nutritional status • Serum Vitamin B12/folate + iron studies (serum iron, serum ferritin, total iron binding capacity, transferrin saturation) o Vitamin B12/serum folate deficiency secondary to malabsorption o Iron deficiency secondary to GI bleeding or malabsorption • Cross match if severe blood loss • Low Mg + low serum albumin are sometimes found in UC • TFTs – exclude hyperthyroidism Stool • Stool culture (infectious colitis is a differential dx) – for infection o C. Difficile has a higher prevalence in pt with IBD o CMV considered in severe or refractory colitis – reactivation is common in pt with IBD on immunosuppression • Faecal calprotectin – allows differentiation of IBS from IBD – for inflammation o  in inflammatory processes (i.e. IBD) o Both IBS + IBD can present with long term diarrhoea AXR • To rule out toxic megacolon + perforation o Signs of toxic megacolon: abdominal tenderness + distention, tachycardia, fever, anaemia, transverse colon >6cm • May also help assess disease extent or identify proximal constipation Colonoscopy or flexible sigmoidoscopy + biopsy • Determines disease extent + severity • Histological confirmation • Detection of dysplasia • Typical macroscopic features of UC o Signs of inflammation extending from the rectum proximally with erythema granularity, friability, purulent exudates, ulceration • Histology findings o Crypt distortion o Acute inflammatory changes of cryptitis o Crypt abscesses o Infiltrative changes o Inflamed crypts filled with fibrin and polymorphonuclear leukocytes Upper intestinal endoscopy • For children and young people • This is important to differentiate CD from UC Magnetic resonance enterography (MRE) of the small bowel + additional small bowel imaging • May be needed in children + adults where endoscopy + conventional imaging has been non-diagnostic, there are atypical sx or there is need to differentiate UC from CD Other ix • CT – to stage UC + look for extraluminal complications e.g. abscesses, fistulas • Plain AXR to identify colonic dilation – may indicate complications such as bowel obstruction, toxic megacolon DCBE • Shows mucosal ulceration with granular appearance + filling defects (due to pseudopolyps) • Narrowed colon • Loss of haustral pattern – lead-pipe appearance *colonoscopy + barium enema may be dangerous during an acute exacerbation – risk of perforation

Answer 78

Abdominal pain No pain – 0 Pain can be ignored – 5 Pain cannot be ignored – 10 Rectal bleeding None – 0 Small amount only, in <50% of stools – 10 Small amount with most stools – 20 Large amount (50% of stool content) – 30 Consistency of most stools Formed – 0 Partially formed – 5 Completely unformed – 10 Number of stools in 24h 0-2 – 0 3-5 – 5 6-8 – 10 >8 – 15 Nocturnal stools (any episode causing waking) No – 0 Yes – 10 Activity level No limitation of activity – 0 Occasional limitation of activity – 5 Severe restricted activity – 10 Remission (disease not active) - <10 Mild – 10-34 Moderate – 35-64 Severe – >65

Answer 79

• FBC with differential o Anaemia o high WCC o low neutrophils o low plt • Peripheral blood smear o Lymphoblasts • BM aspiration + trephine biopsy o >20% lymphoblasts in BM – conforms dx o BM specimens should be stained with either Wright or Giemsa stain • U+Es o high Ca – bony infiltration or ectopic release of rPTH o high PO43- - ineffective leukopoiesis or chemotherapy-induced tumour lysis o high K+ - due to extensive leukaemic cell lysis • Renal function o N/high U if there is renal dysfunction • LFTs - high if liver infiltratio • LDH - high if increased cell turnover • Coagulation profile • Immunophenotyping o Leukaemic lymphoblasts express surface antigens + molecular markers to help identify their specific lineage • TPMT + NUDT15 phenotyping o Helps dosing of mercaptopurine o Dose reduction required for mercaptopurine if either low • Cytogenetics o Cytogenetic abnormalities are common in ALL + may be of prognostic + therapeutic significance • Molecular studies

Answer 80

• FBC with differential -  Hb + plt,  or  WBC count • Metabolic panel – renal + liver function need to be evaluated before treatment – normal in most patients • raised ESR • CXR - ?mediastinal adenopathy • PET-CT o Staging o Also used to monitor treatment response • Gallium scan + Contrast CT neck + CAP – if PET-CT unavailable • Excisional LN biopsy o Reed-Sternberg cells (Hodgkin’s cells) • Immunohistochemical studies o CD30+, CD15+, CD45-, CD20+ in 30-40%

Answer 81

History • Gather collateral information from other agencies + health disciplines • (1) Listen and observe o Any hx that is given o Report of maltreatment or disclosure form a child or third party o Child’s appearance/ behaviour/ demeanour o Symptoms + physical signs o Result of an investigation o Interaction between parent and child • (2) Seek explanation • (3) Record o Exactly what is observed o Why this is of concern • (4) Consider, suspect or exclude maltreatment o Consider  Look for other alerting features of maltreatment in the child’s hx/ presentation or parent-child interaction now or in the past  Ensure review of the child at a date appropriate to concern + look out for repeated presentation of this or any other alerting features • (5) Record o All actions taken in 4 o Outcome Imaging • Skeletal survey o Head/chest (incl. AP + lateral skull) o Spine/pelvis o Upper limbs o Lower limbs • F/U imaging o Skeletal servery repeated at 11-14 days o To ensure injuries too new to appear on the initial skeletal survey are detected o 11-14 days is used as this is the maximal time take for the periosteal reaction to occur, allowing fractures to be visualised on X-ray • Acute presentation  CT head, on the day of presentation • Non-acute presentation  MRI head, within a week of presentation • CT o More sensitive in dx rib fractures but  radiation dose o Used if ?rib fractures but is not currently routine • US o Metaphyseal + rib fractures o Subperiosteal fluid • Abusive head trauma suspected  refer for ophthalmology review (fundoscopy for ?retinal haemorrhages) • If sexual abuse is suspected  do not perform an intimate examination unless there is an urgent health need to do so

Answer 82

• Consider TFTs if there is o Clinical suspicion of thyroid disease o Unexplained anxiety or depression o Abnormal growth, unexplained change in behaviour or school performance • Offer TFTs to children with T1DM or other autoimmune diseases • Measure both TSH + FT4 o If TSH above reference range  Measure TPOAbs + repeat measurement the time of transition to adult services • Differentiate between thyrotoxicosis with hyperthyroidism (Grave’s disease) + thyrotoxicosis without hyperthyroidism (e.g. transient thyroiditis) o Measure TPOAbs + TRAbs o Consider technetium scanning of the thyroid gland if TRAbs are negative • US thyroid if o palpable thyroid enlargement o focal nodularity o incidental findings on imaging suggest malignancy as a possibility o cause of thyrotoxicosis remains unclear following thyroid autoantibody testing + technetium scanning • FBC, LFTs – before starting antithyroid drugs

Answer 83

Ix • Echo – diagnostic • ECG/ CXR – normal

Answer 84

• ECG o Small VSD  Normal o Moderate VSD  LVH, LAH o Very large VSD  Biventricular hypertrophy (BVH) +/- LAH o Pulmonary HTN  RAD, RVH, RAH • CXR o Small VSD  Normal o Larger VSD  Cardiomegaly involving LA, LV, sometimes RV  Increased pulmonary vascular markings o Pulmonary HTN  Enlarged main pulmonary artery and hilar pulmonary arteries  Oligemic peripheral lung fields  Normal heart size • Echo o Transthoracic 2D echo + Doppler echo – number, size, location of defect o Identification of any obstruction of the RV outflow tract or aortic valve insufficiency o Haemodynamic evaluation of the defect o Estimation of pulmonary artery pressure (using the modified Bernoulli equation), RV pressure, intraventricular pressure difference o Measurement of LA + LV diameter – semi-quantitative information about shunt volume o Defect size – given in terms of the size of the aortic root  Defects about the size of the aortic root = large  1/3-2/3 of the aortic root diameter = moderate  <1/3 of the aortic root diameter = small o if problematic image quality – can also use trans-oesophageal echo

Answer 85

• Echo o Only ix needed to confirm the dx + significance of PDA o Measurement of cardiac chambers and function, 2D imaging of PDA anatomy, Doppler assessment to define PDA shunt flow o Ratio of L atrial size to aortic root size – can be used to estimate the degree of PDA shunt • CXR o If shunt is significant – enlargement of pulmonary arteries, veins, LA, LV  These features usually require a ratio of pulmonary flow: systemic flow of at least 2:1 o Older people – calcified PDA may be seen • ECG o Small/moderate PDA – normal, LVH o Large PDS – BVH, RVH if pulmonary HTN • Preterm infant o Confirm dx w echo

Answer 86

• Prenatal detection on AN US o <50% • Day 1 pulse oximetry o Low saturations • CXR o May be normal o “Egg on a string” appearance – heart is slightly larger + appears like an egg lying on its side / narrow vascular pedicle because aorta + pulmonary artery lie one in front of the other o Increased vascular lung margins • ECG o May be normal o Usual right ventricular dominance seen at this age o After a few days – RVH, right atrial hypertrophy o If VSD – biventricular hypertrophy • Echo o Provides all the anatomical + functional information

Answer 87

``` Ix • AN dx during fetal screening • CXR – normal heart size, “Coeur en sabot/ boot shaped heart”, oligemic lung fields • Echo • ECG – RAD, RVH ```

Answer 88

• PG E1 infusion to maintain PDA • Initial palliative surgical procedures before full surgical repair may be required o Modified Blalock-Taussig shunt  Systemic to pulmonary shunt  From subclavian artery to pulmonary artery  Used to increase blood flow to the lungs (since PS is causing RVOT obstruction and limiting the amount of blood exiting the RV and entering the pulmonary artery, therefore less blood is available to become oxygenated and less oxygenated blood reaches the LA to be pumped around the body)  Can be used even in premature infants o Primary RVOT stenting increasingly replacing the modified Blalock Taussig operation • Full surgical repair o In the first year of life o Neonates – primary repair in symptomatic neonates o >3m – primary repair regardless of symptoms o Includes  Repair of the pulmonary valve  Closing the VSD  Relieving RVOT obstruction • Neonates o If severe RVOT obstruction – O2, keep baby warm, ix for other causes of neonatal collapse (infection, hypoglycaemia), IV PG E1 o Initial palliative surgical procedures  Modified Blalock-Taussig shunt  Primary RVOT stenting o Definitive primary repair • Infants o In less severe RVOT obstructions  Surgery may be performed at age 3-6 months o Intervening period  Prevent dehydration  Prevent iron deficiency  Hypercyanotic events/Tet spell mx (= attacks of paroxysmal hyperpnoea +  cyanosis that occur spontaneously/ after feeding/ prolonged crying/ defecation) • Adults o Surgical correction  Should still be recommended – daily function considerably improves  TOF + pulmonary atresia with VSD repair – high early mortality o [Hb] = chronic cyanosis early mortality

Answer 89

 Hypercyanotic events/Tet spell mx (= attacks of paroxysmal hyperpnoea +  cyanosis that occur spontaneously/ after feeding/ prolonged crying/ defecation) • Knee-chest position (infant on abdomen or parent’s shoulder) – may abort the attack or • O2 + morphine +/- IV propranolol • Phenylephrine o Increases SVR (systemic vascular resistance) o Generally used as last line medication • Sodium bicarbonate o If attack is prolonged o To correct any metabolic acidosis, if present • Oral propranolol – may reduce the number + severity of attacks • Refer to cardiac centre for surgery as soon as they start

Answer 90

• Bloods o Presenting with HTN – U+Es, Cr, FBC, blood glucose – likely to be normal o Presenting ill with shock – ABG, septic workup (blood cultures + other specimens for culture – assess metabolic status + search for other causes of circulatory collapse (sepsis, hypoglycaemia) • Imaging o CXR – CCF, indentation of the aortic shadow at the site of coarctation, notching of the underside of the ribs (pressure from collateral blood vessels) o Echo – estimation of the pressure gradient caused by the abnormality o MRI – to delineate the nature of the coarctation + any associated abnormalities • ECG o Neonates – LVH • Cardiac catheterisation o To confirm dx when unclear on US o To determine the gradient across the coarctation (>20mmHg – significant) o Assess other abnormalities + the overall haemodynamic picture when considering therapeutic options o Therapeutic – balloon angioplasty +/- stent implantation

Answer 91

• If SVD w primary infection in the previous 6w o Well baby – swabs for HSV PCR (skin, conjunctiva, oropharynx, rectum) • Unwell – swabs, LP, blood culture

Answer 92

Mother • Confirmatory testing • Testing for hepatitis B e-markers + viral load • Unbooked mum presents in labour  urgent HBsAg test, Hep B e-markers +/or viral load Baby • HBsAg at 1 y – identifies babies who have become chronically infected If HBV DNA >10^7 IU/ml in third trimester  tenofovir o Stop 4-12/52 after birth • If child HBsAg +ve – refer to paediatric hepatologist/ gastroenterologist

Answer 93

* Sabin Fledman Dye test – no staining = positive result * Bloods - IgM * USS – fetal anomalies * If suspicious USS – amniocentesis + PCR

Answer 94

``` • AN – amniocentesis, US fetal anomalies • PN – fetal blood sampling o IgM o Persistence of rubella IgG o PCR • Serology – rubella specific IgM serum antibody • FBC – occasional thrombocytopenia ```

Answer 95

* AN – amniocentesis  US/MRI of feal brain  serial US every 2-3w until delivery + cerebral MRI at 28-32w * Hyperechogenic bowel on US * CMV must be confirmed at birth in the first 21d of life * Urine/oral swab/ Guthrie card PCR for CMV

Answer 96

• Urinalysis o Proteinuria 3+ - 4+ • 24h urine protein o >50 mg/kg/day or >40 mg/square • Urine protein/creatinine ratio o >2 • Serum albumin level o <30g/L o (normal = 35g/l) • Serum lipid profile o high TG, high cholesterol o The lower the albumin level, the higher the cholesterol level • Serum complement levels o Normal in typically idiopathic nephrotic syndrome – MCD, FSGS, membranous nephropathy o C3 low in membranoproliferative glomerulonephritis, postinfectious glomerulonephritis, SLE • Serum electrolyte panel o Low Na – low free water excretion (volume contraction may stimulate ADH section), hyperlipidaemia (pseudohyponatremia) • FBC o If pt is volume contracted - High Hb, Hct, plt • GFR – normal • Light microscopy o Normal glomeruli or mild mesangial proliferation o Negative immunofluorescence o No immune complex deposition • Electron microscopy o Diffuse effacement of the epithelial cell foot processes

Answer 97

• Renal biopsy o If no response to CS– ?focal segmental glomerulosclerosis o If frequent relapses o If dx of patients <1y

Answer 98

• Urinalysis + microscopy o Haematuria o Sub-nephrotic proteinuria o Dysmorphic RBC o RBC casts • Comprehensive metabolic profile -  C in severe/advanced disease • GFR – N or , more accurate than serum Cr alone • FBC – normocytic normochromic anaemia – feature of several systemic diseases associated with GN • Spot urine albumin: creatinine ratio (ACR) o Should always be ordered as a follow-up to urinalysis showing proteinuria o Proteinuria mostly a feature of nephrotic syndrome o ACR >220 mg/mmol = nephrotic-range proteinuria • US kidney o Small kidneys – chronic process o To differentiate from other causes of AKI e.g. obstructive uropathy • Other ix o Post-streptococcal GN  Antistreptolysin O ab  Antihyaluronidase  Anti-DNase • Renal biopsy o Most sensitive and specific test for dx o Should be urgently performed if glomerulonephritis is suspected o Light + electron microscopy – pattern of cellular proliferation + number of glomeruli involved

Answer 99

• FBC – anaemia, thrombocytopenia • Peripheral blood smear o Schistocytes o Obtain an accurate estimate of plt count (automated counters can mistakenly count small red cell fragments as platelets) • Renal function/ creatinine o  Cr o Due to damage of renal endothelial cells • Serum electrolytes o Due to diarrhoea or AKI o  K+, /Na+, acidosis (bicarbonate loss),  PO43- • PT, PTT – N •  LDH o Due to RBC destruction •  Haptoglobin o Haptoglobin-Hb complexes removed by the liver + spleen • Stool culture o On Sorbitol-MacConkey agar o To detect Shiga toxin-producing E. coli o STEC cannot ferment sorbitol + appears as white colonies • PCR o Shiga toxin 1/2