Paediatric Key conditions

Question 1

Chronic Asthma - Explanation, assessment, management

Answer 1

• Chronic Asthma - chronic inflammation of the bronchial mucosa associated with mucosal oedema, secretions and constriction of the airway smooth muscle narrows the ariway.
• Diagnosis - Episodic symptoms, wheeze confirmed by heathcar eprofessional, diurnal variability, atopic history, nothign suggestive of alternative diagnosis.
• Mx - Regular preventor (low ICS, or <5then LRTA) -> add on therapy (inahled LABA/LRTA)-> additional controller therapies (increasing ICS to low dose or add LRTA/LABA) -> specialist referral.

Question 2

Acute asthma - explanation, assessment, management

Answer 2

• Explanation - Commonly from attack triggers.
• Assessment - PEF <33% predicted, 02 sats<92% in high flow O2, silent chest, hypotension, fatigue, poor respiratory effort, reduced level consciousness, agitation.
• Management - O2 -> salbutamol + steroid -> ipratorpium -> call for help + cardiac monitor -> aminophlline, IV salbutamol, Mg sulphate

Question 3

Explanation, Dx, Management bronchiolitis

Answer 3

• Explanation - inflamamtion of the bronchioles, in response to viral infection, most commonly RSV.
• Clinical - coryza, dry cough, breathing diffiuclties, poor feeding, end inspiratory crackles, wheeze, recessions, nasal flaring.
• Dx- GORD, congenital malformations, asthma, foreign body aspiration
• Mx - humidified oxygen, CPAP may be used if ventilation required and feeding support. Mots make a full recovery in 2 weks but the cough and wheeze can last a whielw ith recurrent episodes and some may develop asthma

Question 4

Croup:

Answer 4

• Explanation - Croup is viral laryngotracheobronchitis that is most commonly caused by parainfluenza viruses ages 6m-6y
• Clinical - Symptoms LRTi (cough, fever) for a few days then characteristic barking cough, hoarse voice, stridor. Symptoms typiclaly start and worse at night.
• Mx - Observe. Oral or nebulised steroids (single dose dexamethasone or oral prednisolone). If too unwell then inhaled budesonide or IM dexamethasone. Severe then nebulised epinephrine (adrenaline) with oxygen by face mask and observe 2-3hrs till worn off.

Question 5

Acute Epiglotitis

Answer 5

• Explanation - Caused by H. Influenzae B. It is the swelling of the epiglottitis and sepsus
• Emergency as high risk of airway obstruction
• Clinical - High grade fever, unwell looking, drooling, no cough, soft stridor

Question 6

Pneumonia - causative organisms, DDx, Mx, complications

Answer 6

• Explanation = Inflammation of the lung parenchyma with consolidation within the alveoli.
• Newborn - GBS, gram negative enterococci
• Infants + young children - RSV/Adenovirus/rhinovirus… Strep pneimonia (most common), HIB (unvacc)…
• 5+ - mycoplasma pneumoniae, strep pneumoniae, chlamydia penumoniae…
• Presentation - fever, cough, increased work breathing, tachypnoea, lethargy, poor feeding.
• Ix - CXR, NPA aspirate for viral PCR, bloods
• Mx - Abs (amox or PO macrolide), pleurla collections (persistent fever after Ab) may need drianage
• Complications - sepsis, acute respiratory distress syndrome, pleural effusion empyema.
• DDx - Otitis media, Rhinnorrhea, Nasal polyps, Pharyngitis, Upper respiratory infections, asthm, bronchiolitis, Bronchitis

Question 7

Cystic Fibrosis

Answer 7

• Explanation - autosomal recessive disease from mutations in a gene on C7 that encodes cystic fibrosis transmembrane regular (CFTR) protein. Thickened, sticky secretions. Dysregulation of inflammation. Pancreatic ducts block and abrnomal function in sweat glands.
• Clinical - (heel prick screenign most):
  
  • Neonates - myconium ileus
  • Children - frequen infection, failure to thrive, wheeze, cough, stetorrhea.
• Ix - Blood spot test with immunoreactive trypsinogen. Gold standard is sweat test with pilocarpine oontophoresis as abnormally salty swear. CF genotype also available for common mutations like DeltaF508
• Mx - proph Abs, physio to clear airway, vaccines, mucolytica, nutritional management (high cal, pancreatic replacement), targeted (lvacaftor/lumacaftor).

Question 8

Meningitis

Answer 8

• Causative organisms -
  
  • Neonataes - GBS, Listeria monocytogenes, E.Coli
  • 1m-6m - Neisseria Meningitides, Streptococous Pneumoniae, Haeophilus influenza
  • 6m+ - N/meningitides, strep pneumoniae
  • Viruses - Enterovirus, EBV, adenovirus, mumps
• Presentation
  
  • Fever, headache, vomiting/poor feeding, droswiness, photophobia, hypotonia, seizures.
  • Purpuric rash, neck stiffness, bulgign fontanelle, back arching brudxinski/kernig sign, atered consicousness, shock, focal neurology
• Diagnosis- FBC, CRP, Coag, U&E, LFTs, blood glucose, blood gas, cultures, viral PCR, lumbar puncture.
  
  • LP Bacterial = tubrid, increased polymorphs, increased protein, decreased glucose
  • LP viral = clear, increased lymphocytes, normal or icnreased protein, N/decreeased glucose
• Mx - IV Abs (cephalosporin), dexamethasone in bacterial infeciton over 3m supprotive therapy.

Question 9

Otitis Media

Answer 9

• Explanation - infection of the middle ear, often followign viral URTI (But cna be bacterial). RSV, rhinovirus, strep pneumonia, haemophilusinfluenza, moraxella catarrhalis. Children has shorte,r more horizontla eustachian tubes.
• Presentation - non specific - fever, tachy, vom, distress, pain in ear. Red, bulging eardrum, loss of light reflex, purulent discharge (if perforated). Hearing loss/developmentla delay if recurrent (glue ear-OMEffusion, conductive hearing loss.)
• Management -Reassurance (self resloves 3-5days), analgesia, Abs onyl if not getting better.

Question 10

Impetigo

Answer 10

• Explanation - Hihgly contagious skin infection commonly on the face in infants and young children, especially if pre-existing skin disease
• Clinical - Eryhtmeatous macules develop into honey coloured crusted lesions.
• Causes - Streptococcal infection
• Mx - Topical Abs for mild (mupirocin) but more severe needs systemic Abs (flucloxicillin). Nasal cream containing chlorhexidine + neomycin to eradicated source reinfection in nose.
• Complications - Cellulitis, lymphadenitis, rarely scarlett fever, glomerulonephritis, staph scaled skin syndrome.

Question 11

Chicken Pox (Varicella Zoster Virus)

Answer 11

• Explanation - varicella zoster virus, highly contagious, av incubation 2wks and infectious 2days before rash until all lesions crusted over.
• Clinical - coryzal period, ichy rash (macules-> papules -> vesicles-> crist over). New crops over 3-5days.
• Complications - (immuncompetent or newborn infant if mother developed) - secondary bacterial infection
• Mx - symptomatic but for severe/immunsuppressed then acyclovir. VSV immunoglobulin for pasisve immunity for immunosuppressed or newborn if mother developed 7days before/after birth. Vaccine not routinely given in UK

Question 12

UTI

Answer 12

• Presentation -Usually non specific
  
  • infants - fever, vom lethargy, poor feeding, irritability
  • Older children - fever, dysuria, increased requency, abdo pain, vom, incontinence
• Urine invetsiagtions- Urine analysis, urine culture + sensitivity (E.Coli + klbesiella). Nothign else unless concerned about sepsis
  
  • Start Abs if +Leukocytes, +Nitrates OR -Leukocytes +Nitrates. Send for culture if Leukocytes but no nitrates
• Explanation - microorganisms in UT. Uuslaly abcteria from GIT.
• Management - good clinical ev or <3m = Abs.
  
  • Upper UTI/pyelonephritis = Cefalexin or Co-amoxiclav
  • Lower UTI = trimethoprim
  • <3m = IV Abs
• Further:
  
  • <1 = US (structural problems <6w), DMSA (4-6m after to check renal parenchymal defects), MCUG (renal reflux check).
  • 1-3 = US, DMSA,
  • 3+ = US

Question 13

Gastroenteritis

Answer 13

• Expalantion - Infection of the GIT
• Causative organisms - Mostly Rotavirus in developed countries. Or (campylobacteria - gripes, lood diarrhea), E.cOl 157 (farms)
• Presentation - diarrhea, vom, fever, poor feeding, shock
• Ix - not usually but could do stool culture, U&Es, glucose, blood cultures, dehydration assess
• Weight loss, fontanella, CRF on chest, sunken eyes, skin turgor on abdo
• Electrolyte explanation -
• Management - Correct dehydration (oral/IV fluid). Abs only if suspected sepsis, immunC, malnourished
  
  • clincial dheydration - 50mL/kg ORS 4hours
  • SHock - 20mL/kg 0.5% salien rapud and can repeat with 0.9% slaine asdding 100mL/kg to maintainence
• Maintainence fluids:
  
  • 100mL/kg/24h for 0-10kg bodyweight
  • 50mL/kg/24h for 10-20kg bodyweight
  • 20mL/kg/24h for >20kg bodyweight

If diarrhoea continues, give additional 5mL/kg ORS for each large watery stool.

Assessment dehydration + fluid

Question 14

GORD

Answer 14

• Expalnation - Invol passage of gastric contents into oeosphagus. Can be from functional immaturity LES, predominately fluid diet, horizontal posture, short intra-abdo length oesophagus. reflux is common but GORD causes problems
• Assessment - Most clinical but can do: 24h oesophagela pH monitor/impedeance studies in infants, barium studies (anatomical problems), endocscopy (oeosphagitis suspected)
• Clinical - recurrent vom or regurg after feeds, discomfort lyign flat afer feed, usually well + nromal growth. In those older, heartburn, epigastric pain,vom.
• Mx - Reassurance resolve by 12/18m. More torublesome then smaller, thicker, more frequent feeds. Can also have alginate therapy (Gaviscon), 4week trial PPI/H2 receptor anatagonist.
• Complications - faltering growth from vomiting, oeosphagitis, recurrent pulmonary apsiration, dystonic neck posturing.

Question 15

Celiac disease

Answer 15

• Explanation - Autoimmiune disease, gluten ingestion reuslts in damage to mucosa of proximal small intestine with subsequent atrophy of villi and loss of absroptive surface.Family predisposition HLA-DQ2, caucaisan, othe rautoimmine,downs, turners syndrome.
• Presentation - Mlaabsorption (8-24after weaning), falteirng growth (+ buttock wasting), abdo pain, distention, abnormal stools. Also non specific - anaemia.
• Invetsiagtion - Serological screening (Anti-tTG, EMA Abs +), mucosal changes of small intestine on biopsy.
• Management -Gluten free diet or risk micronutrient def, osteopenia and malignancies.

Question 16

IBD overview

Answer 16

• Crohns = mouth to anus, non caseating epitheliod cell granulomata. Transmural
• UC = COnfined to colon, mucosal inflammationa and crypt cell damage.
• Presentation - Abdo pain, diarrhe,a failure to thrive, weight los,s delayedpuberty, oral lesions, arthralgia etc.
• Ix - FBC, CRP/ESR, fecal elastase, biopsy
• Crohns Mx - nutritional therpay, systemic steroids, immunsupressana, Anti-TNF (infliximab)
• UC - Aminosalicylates (Mesalazine), topical or systemic steroids, immunsuppressants.

Question 18

Obesity

Answer 18

• Causes - Excess calories, reduced activity, prevalence in family, endocrine, chromsoomal (cushings, hypothyroidism, Prader-Willi)
• Consequences - Long temr health risks (DM, hypertension, ischaemic heart disease), emotional disturbance, obstructive sleep apnea.
• BMI = WEIGHT (kg) /HEIGHT^2 (m)
• Overweight >91st centile
• Obese >98th centile
• Prevention - decreased fat, fruit, veg, reduce screen time, physical activity, education
• Mx - drug treatment for over 12 and BMI>40 (extreme obesity) or >35 and complications. Orlistat (reduce absroption dietary fat-> steatorrhea), bariatric surgery.

Question 19

Flaterign Weight

Answer 19

• Classification - Mild (falls across 2 centile lines), severe (3centile lines). The more drop when already in bad centile, the more concerning.
• Exam - ABCDE, weight/height/lenght/headC, nutritional status, chronci illnes,s neuro/developmental, organic/non organic signs.
• Ix - none other than sometime bloods, stools, environment assess
• Mx - determine severity, dpeend son cause, supportive hospital, outpatient 9diary, dietician…), cousnelling
• Causes - Inadquate nutrional intake, inadequate abdorption nutrients, psychologicla deprivation, neglect/child abuse, underlying patho, excessive enrgy expenditure form underlying problems, inadequate retention, malabsorption, failure to utilise nutrients, increased requirements.

Question 20

Hepatomegaly Causes

Answer 20

• Infection – congenital, infectious mononucleosis, hepatitis, malaria, parasitic infection
• Hematological – sickle cell anemia, thalassemia
• Liver disease – chronic active hepatitis, portal hypertension, polycystic disease
• Malignancy – leukaemia, lymphoma, neuroblastoma, Wilms tumour, hepatoblastoma
• Metabolic – glycogen and lipid storage disorders
• CV – heart failure
• Apparent – chest hyperexpansion from bronchiolitis or astma.

Question 21

Appendicitis

Answer 21

• Explanation - Infalmamtion of appendix secondary to obstruction (usually by faecolith or lymphoid hyperplasia).
• Clinical -
  
  • Abdo pain (perimbulical -> sharper, RIF) worse on movement. Anorexia, nausea, com, diarrhea, constipation.
  • Fever, tenderness + guarding in RIF (McBurneys point 1/3 RASIS to umbilicus). If unwell, signs peritonist like high temp, abnormal obs.
  • Red flags - Perforated can cause peritonitis >40C, profuse vom, severe tender/guarding or absent bowel sounds.
• Ix - FBC (increased WCC), CRP, US
• Mx - Obs, analgesia, fluid resus, IV Abs if concerned perforation and unwell. Appendicectomy withiV Ab cover.
• COmplications - Perforation, sespsis, pelvic abscess, appendiceal mass

Question 22

Pyloric Stenosis

Answer 22

• Explanation - Due to hypertrophy of smooth muscle of pylorus cuasing gastric outlet obstruction. More in bodys 2-8ks life.
• Clinical - Persistent, projectile nonbilious vomiting after feeds. Infant remains hungry and eager to feed after vomiting. Weight loss, constipation, dheydration, mild jaundice after few days.
• Dx -
  
  • Test feed- gastric peristsalss waves L->R. Pyloric mass in RUQ
  • CBG - Hyperchloraemic metabolic alkalosis with low plasma sodium + potassium from vom
  • US
• Mx - Rehydration, correct electrolyte imbalances, pyloromyotomy

Question 23

Key Milestones + Red Flags

Answer 23

• Red flags - 10w not smiling, 9m left hadn preferences, 19m not wlaking, 2 1/2 not putting words together
• Newborn - wriggle, startled to loud noise, cry
• 3m - tummy time, vocalisation, giggling, smiling
• 6m - sitting, rolling, palmar grasp, undestand no, weane to solid food
• 9m - crawling, hold furniture, pincer grip, mama, stranger awareness
• 12m - walking (mostly furniture), casting, clap, peekaboo, driknk from cup (2hands), hold spoon
• 18m - run, climb, jump, scribble, single words
• 2 yrs - run, kick ball, throw (not catch), read book, 50siungle words, tantrums
• 3yrs - nursery, hop, copy circle, name friends, imaginative play
• 4yrs - reception, up/down stairs like adults, learn to write name, tell stories, toliet trained, knife/fork

Causes for developmental delay - Genetic (downs, fragile X…), injury, CNS malformation, endocrine.metabolic (hypoT), neurocutaneous, idiopathic.

Question 24

Autistic specturm disorder

Answer 24

• Explanation = pervasive developmental disorder presenting in childhood, lifelong.
• Rf = 1st degree rel with schixophrenia, soidum valproate inpreg, gestational age <35, learnign dis…
• Clinical =
  
  • Impaired reciprocal social interaction - hard forming relatipnships, avoid eye contact, reduced response to others emotion
  • Impaired communication - delayed speech, language develpment
  • Restricted itnerests + repetitive behaviours
  • Comorbities - learning + attention problems, seizures…
  • Asperger- high functioning. Normal intelligence etc but still problems.

Question 25

ADHD

Answer 25

• Attention deficity hyperactivity disorder
• Inattention - eaily distarcted child ho changes activity frequently nd doesnt persist with tasks
• Hyperactivity - Excess of mvoement with perisstent fidgeting and restlessness
• Impulsiveness - acting without reflection or prior thought
• physical - developmental delay, clumsiness, deficits in hearing/vision learnign difficulties…
• Diagnosis = Where hyperactivity/impulsivitiy and/or inattention that are present for at least 6m in 2 or more settings (persistently) and impair function.
• Mx - Behavioru therapy, drug therapy (methylphenidate-Ritalin, or atomoxetine where tics and then dexamfetamine where both failed.

Question 26

Congenital heart Disease (basics)

Answer 26

• Associations - Genetic disorders, teratogens, infections
• General symptoms - lag physical development, cyanosis, pallor, SOB, anxiety/rejection of breast, heart murmurs, increase HR, ECG signs, ECHO signs hyptrophy, radiography (increase size heart,etc)
• Acyanotic CHD - PINK babies. Restricive, Non restrictive, Obstructive. L->Rshunt
  
  • VSD - can be aysmptomatic (cna have poor feeding, SOB…), antenatal 16-18wk, present 6-8wks, pulse ox,ECHO, CXR, ECG, if large then surgery but otherwise manage
  • ASD - asymp, mostly 4.5yrs dx from murmur. Pulse Ox, ECHO, CXR, ECG. Mosttly CHF therapy and sponatenous sclosre but large then surgery
  • PDA - symptoms depend on size, usually 3-5days after birthwhen nromally closes. 2D ECHO, doppler. Less likely to close by itself if term baby so closw when at least 5kg
  • Coarctation aorta - leads to LV hypertrophy, can develop HF, 3-5days after birth SBP high, 2D ECHO, doppler. Continuous iV prostaglandic E1 to keep open until surgery.
• Cyanotic CHD- BLUE babies.
  
  • Tet of Fallot - RV outflow obstruction, VSD, Over riding aorta, RV hyperteophy. Cyanosis/poor feeding, day 3-5, tet spells, 2D ECHO, doppler, ECG, CXR 9Boot shaped). mianain PDA (prostaglandin) till repair.
  • Transposition of greater arteries - Aorta of RV, PA of LV. Cyanosis, por feeding, sweating in feeds. 3-5day, fetal US, ECHO, CXR (egg on string), ECG, cardiac catheter and repair (balloon atrial septosomy)
  • Truncus arteriosus - PA/Aorta havent divided
  • Total anomalous pulmonary venous drainage - pulm veins dont connect to LA. SUpracardic/Cardic/Infracardic types. Need ASD to be compatible with life.
  • Tricuspid atresia - tricuspid valve doesnt form (hypoplastic RV common). SImilar in HLHS (hypoplastic left heart syndrome)
  • Ebstein anomaly - displaced tricuspid leaflets, artificlly atrialising RVAss with tricuspid regurg + right HT. Can be from lithium exposure in utero.
• Eisenenger - Left->r becomes R->L. ASDs, VSDs, PDAs. Overtime excess pulmonary blodo flow from L->R shutn caused pulmonary hypertension and RV hypertension. Cyanosis.

Question 27

Heart Murmurs

Answer 27

• Interpretation - timing (Systolic-innoc/diastolic-rare,patho), character,loudnes,s radiation
• Innocent:
  
  • Produced by nromal flow so manouvres to change flow (squat) should change intensity
  • Stills - soft vibratory murmur in LLSB, mostly form nromal flow
  • Venous hum- cintinuous loudest of clavicles from venous return form Head and neck, varies with position
  • Turbulent flow in pulmonary artery bifurcation = soft ejection systolic murmur.
• Signficiant:
  
  • Synocpe, episodic cyanosis
  • CVS signs - abnormal pulses, heart sounds, BP or cardiac impulse
  • Murmur - diastolic, pansystolic, radiating to back or associated with thrill

Question 28

Kawasaki Disease

Answer 28

Explanation - Uncommon systemic vasculitis affectin gsmall and medium vessels. Typically 6m-4y, more in asian origin. Cna leas to aneurysm in coronary arteries

Diagnosis: Fever for 5+ days or more with 4 of following:

• bilateral non purulent conjuctivitis
• Polymorphous maculopapular rash
• oral changes - red cracked lips or strawberry tongue
• Changes to extremities - reddening or oedema of hands and feet, or peeling of skin (late sign)
• Cervican LNs>1.5cm

Investigations – FBC, CRP, ESR (raised), U&Es, LFTs (bilirubin + AST may be raised), throat swab and antistreptolysin 0 titre, blood culture + viral titres, Echocardiography, electrocardiogram.

DDx – measles, scarlet fever, rubella, roseola, fifth disease.

Management – single dose IV immunoglobulin to reduce incidence + severity of coronary artery aneurysm formation and aspirin.

Question 29

Febrile Seizures

Answer 29

• Febrile convulsion = seizure associated with fevevr in a child 6m-6yrs in absence od ontracranial infection or identifiable neurological disorder
• Clinical Features = typically brief (1-2min), generalised tonic-clonic. Underlying infection may be virus/bacterial so ensure no signs meningitis
  
  • SImple FC = <15mins, x1 in 24hrs
  • Complex = >15mins, focal or reccuring in 24hours.
• Mx - identify + treat infection (Culture, microsocpy, LP, CXR…), reg antipyretics, prolonged ocnvulsions treated like status epilepticus, parenteral education
• Most grow out by 6

Question 30

Childhood epilepsy

Answer 30

• Explanation - recurrent, unprovoked epileptic seizures
• Seizure classification-
  
  • General - electrical activity from both hemispheres. Motor (tonic clonic - rigidity, movements all 4limbs) or non motor (absence- brief unawareness).
  • Focal onset - from one hemisphere. Subcategorised by level self awareness. Frontal (may lead to clonic movements), teporal (aura, smell, taste, lip smacking), occipital (visual hallucinations), parietal (altered sensation).
• DDx - syncope, GERD, panic attack, daydreaming, , benign sleep mycolonus, motor tics….
• Causes - iiopathic, cerebrla malformations, cortical dysgenesis, tumour, trauma, CNS infection, neuroegenerative…
• Diagnosis - hsitort, rule out other
• Invetsigations -EEG, neuroimaign, brain imaging, metbaolic investigations.
• Mx - anti-epileptic drug therapy. Other - ketogenic diet, nerve stimulaion, epilepsy surgery
• Status epilepticus - epileptic seixure 30mins+ or repeated for 30mins without recovery or consciousness.
• Acute management – benzodiazepines if still convulsing except in neonates whoud shudl receive phenobarbitone.

Question 31

Cerebral palsy

Answer 31

• Explanation - Group of ocnditions affectogn motor function and posutre due to non progressive lesions of the developing brain. Antenatal, birth, preterm, post natal
• Clinical - Hypotonia in infancy, feeding difficulties due to lack of oromotor coordination, delayed motor milestones, speech + language delay, motor disorders
• Types -
  
  • Spastic - damage to UMN, brisk deep tendon reflexes, uni/bilateral
  • DYskinetic - involuntary, uncontrolled movements, chorea athetosis, dystonia.
  • Ataxic - hypotonic
• Mx - MDT,novel (botulinum toin injection)
• Long term complications: Premature ageing, malnutrition, depression, anxiety, heart and lung disease, OA, chronic pain, scoliosis.

Question 32

Puberty

Answer 32

• Girls 8-13, boys 9-14.
• Precocious puberty - before 8 girls (mostly normal) oe 9 boys (mostly patho). Causes are true/central (idiopathic, CNS tumour etc) or false (gonadotrophin independent) which are peripheral causes
• Delayed - absence of secondary sex characteristics at 13 girls, 14 boys. Cnabe hypogonafotropic hypogonadism (central dleayed puberty) or hypergonadotrophic hypogonadism (gonadal failure)
• Innoceny Discordant puberty - premature thelarche, adrenarche, gynaecomastia
• Pathological discordant early/late puberty
• Delayed puberty - constituional delay in growth + puberty, hypothalamic/pituitary disorders, syndromes, hypergonadotrphic hypogonadism
• CAH 21 Hydroxylase deficiency - mutations in CYP21B on Ch6, salt wasting, simple virilizing. Neonatal presentation, andorgen excess in childhood, precocious puberty, hyperandrogenis in adolescents.
• Adrenal insufficiency
• Congenital hypothyroidism

Question 33

Diabetes Mellitus

Answer 33

• Dm = group disorders of carb,fat, protein emtabolismc uased by deficiency of or reduced efficacy of endogenous insulin.
• T1DM = Autoimmune, lack on insulin. T cell mediated autoimmune destruction of B cell in pancreatic islets of langerhans (perhaps triggered environmentally in those with genetic predisposition). HLA DR3/4
• Presentations - Hyperglycaemia, polydipsia/polyuria/polyphagia, weight loss, N/V/Abdo pain (DKA)
• Ix - Fasting PG >7, random PG >11.1
• Hba1c should be 48. If over 48 diabetes
• Mx- lifelong insulin replacement, reg sugar checks screen for complications + compliance. Normal BM is 4-7. Teach on helping themselves (education, diet, monitor)
• Hyperglycaemia - dry mouth, increased thirst, weaknes, headache, blurred, increased urination
• Hypoglycaemia - sweating, pallor, irritability, hunger, lack coordination, sleepiness
• DKA - abd pain, vom, features severe dheydration + ketoacidosis
• Late complications - CV disease, retinopathy, nephropathy, neuropathy.
• Other types DM = T2DM, (reduced sensitivity to insulin), MODA, secondary to pancreatic destruction/failure, and asosicated with genetic syndromes

Question 34

Diabetic Ketoacidosis

Answer 34

• DKA = if body starts to run out of insulin
• Presentation – dehydration, shock, N/V, abdominal pain, drowsiness, acidotic respirations
• ABCDEFG – don’t ever forget glucose
• Ketonemia, hyper-glycaemia, acidemia
• Treatment – Complex and always requires senior support, often needs 1:1 Nursing care. Combo of fluids, insulin and potassium.
• Complications – Hypokalaemia, cerebral oedema, hypoglycaemia, VTE.
• pH<7.3 (>7.1 mild-mod/ <7.1 severe)
• Glucose >11 and dehydration, drowsy, vomiting, bicarb <15

Question 35

Hypothyroidism

Answer 35

Congenital Hypothyroidism:

• Causes - Developmental defects, dyshormonogenesis, congeital pituitary lesions, transient congenital hypothryodisim in maternal thyroid disease and maternal iodide deficiency (most common)
• Test in neonatal screenign program
• Clinical - normal at birth byt may develop if untreated: prolonged neonatal jaundice, sleepiness, feeding problems, constipation, umbilial hernia, bradycardia, poor peirpherl perfusion, coarse facies/wide posteiror fontanella, large tongue, hypotonia, learnign difficulties.

Acquired Hypothyroidism:

• Causes - autoimmune disease (Hashimotos thyroiditis), iodide def, iatrogenic (thyroid surgery or meds)
• Clinical - cold, weakness, fatigue, low mood, constipation, menorrhagia, dru skin, coarse hair, bradycardia, heart failure, ataxia.

Question 36

Hyperthyroidism

Answer 36

Neonatal -

• Causes for neonatal – infants of mothers with Graves Disease or Hashimotos disease from transplacental transfer of thyroid stimulating immunoglobulins.
• Clinical presentation – may cause IUGR, tachycardia or fetal hydrops. Get goitre, increased appetite but faltering growth, diarrhea, CNS signs like irritability, CV signs like tachycardia, arrhythmias, hypertension and heart failure.
• Usually self-limiting within 1-3month but if severe may require treatment with propranolol or carbimazole.

Acquired –

• Most common by Graves disease(autoimmune) – TSH receptor antibodies
• Clinical – feeling hot, diarrhea, increased appetite but weight loss, tremor, tachycardia, palpitations, cardiomyopathy, eye signs like proptosis, cremosis, exposure keratitis and ophthalmoplegia.
• T4,T3 elevated, TSH depressed, thyroid autoantibodies. Carbimazole first line with B blockers for symptoms relief.

Question 37

Short Stature

Answer 37

• Short stature = height below 0.4th centile for age, predicte dheight less than mid parenteral target height or abnormla growth velocity.
• Causes = Familial short stature, constitutional delay of growth + pubertty, IUGR, endocrine, genetic (achondroplasia GFGR3, mucopolysaccharidosis, syndromes), malabsroption, any chronic disease, psychosocia deprivation/neglect.
• History - birth weight, length, head circumference, timeline of growth, other disorders, parenteral heigh, FH,diet + social history , stages puberty
• Plot - If point within 1/4 space of line then incentile and if not between centiles. Centile charts show expected for same age and maturity, might drop for illness but return 2-3weeks after.

Question 38

Iron deficiency anaemia

Answer 38

• Causes - inadequate intake (diet, growth spurt), malabsroption (coeliacs), blood loss (menstruation, meckels diverticulum)
• Iorn rich food - chicken, lver, brocoli, dried beans, potato with skin etc.
• Clinical - Fatigue, slow feeding, Pica, Pallor (conjuctiva, palmar crease)
• In infancy - developmental delay, poor growth which is reversible
• Severe can cause cardiac failure
• Ix - FBC= Hb, MCV decreased (microcytic, hypochromic anaemia) and decreased serum ferritin.
• Mx - acoid unmodified cow milj till 12m, iron supplements in vulnerable. Might need dietary counselling and replacemetn for 3m after correction to replenish stores. For cardiac comprimise then transfusion possible. Absorb more iron in breast milk.

Question 39

Leukaemias in childhood - brief

Answer 39

• Leukemia = cancer of blood cells
• Most common cancer in children
• Presentation insidious over weeks – lethargy. Pallor, generally unwell, non blanching rash, frequent infectins, lymphadenopathy, hepatosplenomegaly.
• Incidence peaks age 2-3
• 80% of leukemias in children are ALL
• Investigations – FBC, Blood film, bone marrow aspirate/biopsy, lumbar puncture
• Survival rate of ALL after treatment with chemo is over 90%

Question 40

ITP - Idiopathic thrombocytopenic purpura

Answer 40

• ITP = Most ocmmon thrombocytopenia in children. Immune destruction of platelets by autoantibodies. Autoimmune.
• Clinical - poss history virla illness (1-2wk ago), 2-10years, puroura and minor bleeding (epistaxis) and spleen palpable.
• Dx - rule out sinnister (leukaemia, apalstic anaemia, neutropenia, organo/lymphadeo-pathy): FBC, Low platelets, blodo film (bone marrow biopsy possible)
• Mx - Obs as usually self resloves 6-8wks. May need steroids or IV Ig.

Question 41

Henoch Schonlein Purpura

Answer 41

• HSP = common vasculitis in children, involving small blood vessels, immune mediate IgA, usually triggered by URTI. Mostly boys under 10
• Clinical:
  
  • Non blanching rash - buttocks, extensor surfaces of legs/arms
  • Painful, swollen jounys
  • Abdo pain
  • Haematuria
• Ix - ruel out other and measure organ involvement. FBC, CRP, blodo cultures, U&Es. 2% develop renal failure
• Mx - Uusally self resolves within 6weeks, simple nalgesia. Steroids sometimes for joint pain.

Question 42

Child with a limp

Answer 42

• Transient synovitis“irritable hip syndrome” - most common, ass with viral infection, sudden onset hip pain or limp, no pain at rest, reduced ROM, usually resolves withiin 1week, age 2-12
• Septic Arthritis - red, hot, painful joint, reduced ROM, fever + unwell. Lump/unabel tow eight bear, most common <2, FBC/CRP/ESR/culture/joint aspirate/XRay, need Abs and posisbel surgical washout.
• Perthes Disease - Avascular necrosis of capital femoral epiphysis, occurs due to interuption of blood supply. followed by revascularisation and reossification over 18-36m. Mianly affects boys 5-10. Need Xray (with frogs leg view), and need rest/physio/casts/poss surgery
• Slipped capital Femoral Epiphysis - Dispalcement epiphysis of femoral head postero-inferiorly. Most common 10-15, commonly occurs in adolescent growth spurt with increased risk if obese. Get restricted abduction + internal rotation. Need Xray with froh lateral views too, and surgical manageement promptly.
• Osteomyelitis: infeciton of bone by bacteria, commony in <2m, commonl affects femur and tibia. Spread often from wound and needs iV Abs extended course andposs surgical debridement.

Question 43

Eczema

Answer 43

Eczema = Chronic inflsammatory skin condition usually starting in childhood.

• Atopic Eczema - often FH atopic. Uusally episodic dry red itchy rash on extensor surfaces, then face + flexures in older children. Clinical Dx but igE likely raised. Use reg emolliants and topical steroidsand if not enough then tacrolimus and pimercrolumus. The systematic immunsupressant for severe. May grow out by teens
• Infantile Seborrheic Eczema - first 2m life, scaly, mon itchy rash on scalp (cradle cap) then can spread to face,flexures, nappy areas. Emollients and mild topical steroids.
• Napkin Dermatitis - in nappy area due to:
  
  • Irritant contact dermatitis (urine and faeces), moist, might ulcerate, spares folds. Frequent changign and barrier cream
  • Candidiasis - bright red skin, satellite lesions and skin folds. Topical + oral antifungal
  • Seborrheic dermatitis

Question 44

Anaphylaxis

Answer 44

Anaphylaxis = severe life-threatening systemic hypersensitivity reaction.

• Presentation is sudden onset and rapidly progressing.
• Clinical – Angioedema, stridor, wheeze, tachypnoea, tachycardia, shock, vomiting, urticaria, collapse.
• Acute management – ABCDE, adrenaline 1:1000IM, oxygen, nebulizers, fluid bolus, hydrocortisone chlorphenamine.

Question 45

Capillary gas interpretation

Answer 45

Question 46

Lumbar puncture

Answer 46

• Needed to test the fluid around the brain and spinal cord. May be done to see if a child has meningitis.
• Lie on side with knees tucked into chest and head bent forward. Babies will be curled in a ball to get a better position. Young children and babies will be held in place. Needle L4 level or lower as conus medullaris finishes near L3 at birth (L1-2 by adulthood).
• Preferable to get before antibiotics.

Interpretation: Normal CSF parameters vary with age. Any neutrophils present is unusual and should raise concern about bacterial meningitis. If CSF abnormal, safest course is to treat as bacterial meningitis.

Question 47

SHort Vs Tall stature

Answer 47

• <2 board or mat, >2 rigid upright
• SHort stature: below 2nd centile. Comapre to weight and expected height. Causes may be familial, constitutional delay in grwoth and puberty, small for gestational age and prematurity, chmsoomal disorders, nutrition, psychosocial deprivation, endocrine
• Tall stature - obesity fuels growth but doesnt increase final height. Secondayr endocrine causes rare. Marfans, Klinefelts. Can be treated with oestrogen therapy and testosterone terapy but S/E seriosu and mxied results and in extreme then surgical destruciton.

Question 48

Paeds life support

Answer 48

• S – Safety (MRI)
• S – Stimulate
• S – shout for help
• Assessment 10 secs – Look (foreign body, tongue, vomit), Listen, Feel for air on ear
• Breathing- recovery position
• Not breathing:
• 5 rescue breaths and airway: FOR BABIES head needs to be neutral and for children its tilt back like adult. Remember with holding jaw do this on the bone not soft tissue
• Assess – Assess for signs of life
• CPR – 15compressions: 2breaths
• Assess for signs of life.
• REPEAT
• For the masks don’t put hands or mask over eyes as pressing on the eyes drops the BP/RR dangerously making it worse. Do C grip, E grip technique.
• With AEDs don’t use them as too high voltage for a child unless adjust and most children start with respiratory arrest then cardiac so non shockable rhythms.
• 02 needed – 15L

Question 49

CXR

Answer 49

• Confirm details
  
  • Assess image quality: Rotation (clavicles), Inspiration (ribs), Picture + Projection, Exposure
  • Airways + lungs
  • Bones + soft tissue - scoliois, rib fractures, lytic lesions…
  • Cardiac - siz,e borders, mediastinal masses
  • Diaphragm - clear, crisp.
  • Extra body equipment

Question 50

Immunisations

Answer 50

Question 51

Abnormal head growth - where widest

Answer 51

• Most head grwoth in first years life and 80% od adult head size by 5yeara. Posterior fontanelle closed by 8wks, anteiror by 12-18m. if rapid increased in head size exclude intracranial pressure
• Microcephaly - below 2nd centile.
• Macrocepahy - above 98th cenile.
• Asymmetric
• Craniosynostosis

Question 52

Paediatric Observations

Answer 52

• <5, rectal, 38.1+ fever
• 2+ Ear - 38.1+ fever
• 5+ Oral - 37.6 fever
• Any age armpit 37.6+ is fever

Capillary refill time: 2 or less when on finger, and if foot/chest then 4 or less seconds

• High HR – Hypovalaemia, sepsis, fever pain, hypoxia, anaemia
• Low HR – Hypothermia, hypothyroidism, anorexia nervosa, malnutrition, hypokalaemia, hypoxia.
• High RR – can be transient (less than 24hours), bronchiolitis, pneumonia, infection of lower airways.
• Low RR – hypothyroidism, opioids, toxins, head injury,
• High SBP – often related to other health conditions like heart defects, kidney disease, genetic conditions or hormone disorders and for older children it may be primary hypertension.
• Low SBP – anaphylaxis, arrhythmia, medications, dehydration, drinking alcohol, heart conditions, infections.

Question 53

Urine analysis

Answer 53

• UTI - leucocytes, nitrates
• Diabetes - Glycosuria
• Nephrotic syndrome - proteinurea
• Haematuria
• Proteinuria - glomerula abnormalities…
• Acute nephritis - haematuria proteinuria

Question 54

Tonsilitis

Answer 54

• Viral 2/3, EBV
• Bacterial 1/3 – Group A strep
• CENTOR criteria for group A strep (LEAF): Tendor anterior cervical lymph nodes, tonsillar exudate, absence of cough, history of fever. <1 unlikely GAS, 2-sondier test with throat swab, >3 likely GAS so antibiotics
• If viral – self limiting
• If bacterial then penicillin V for 10days (not amoxicillin-glandular fever))
• Tonsillectomy if recurrent infections.

Question 55

Epileptic Syndromes

Answer 55

• Infantile spasms (West syndrome) – Sudden jerking of neck, trunk + limbs (salam attacks). There are runs or clusters of these attacks, may be dozens or hundreds per day. The baby cries at the end of a run of spasms.
• Benign epilepsy with centro-temporal spokes (BECTS)/ Rolandic epilepsy: , from sleep. Focal onset (facial or perioral). Sensory and/or motor. Tingling of one side of the mouth. Expressive aphasia or guttural sounds. Post ictal drooling. Can experience secondary generalization with brief tonic clonic movements.
• Childhood absence epilepsy: More common in girls, typical clinical features are (child freezes typically <5secs, perioral or periocular flickering movements, unrousable/unresponsive during episode Rapid recovery, as if nothing ever happened (No post-ictal phase). Occurs 10s or hundreds of times in day and can induce by hyperventilation.
• Juvenile myoclonic epilepsy (JME): Typical features: first generalized tonic clonic seizures then GTC seizures often preceded by several myoclonic jerks. Awareness retained during myoclonic jerks: history of dropping objects while preparing breakfast is common. Absences occur in up to 1/3. Photsensitivity common

(Taken out EEG findings)

Question 56

Common uK infectious diseases + rashes

Answer 56

• Chickenpox
• Measles - Icb 7-12days, infectious 4day before/after. Bad could, watery sore eyes, gradually more unwell with fever and rash 3/4th day. lasts week, rest, drinks etc
• Mumps - inc 14-25days, infectious 6days before swelling,5days after. Unwell, fever, pain, swelling, symptomatic Mx
• Slapped cheek disease/ erythema infectiousum (firth disease/ parvovirus19)- inc 1-20days, stops contagious when rash appears. Fever, nasal discharge, red rash on cheeks which spreads.
• German Measles (Rubella)- inc 15-20days, infec 1w before,4days after rash. Cold then rash and glands may be swollen.
• Whooping cough - symp 6-21dys, inf firts sign illness till3wks after coughing or 5days after Abs. SImilar to cold, cough gets worse and last.
• Scarlett fever - streptococcus spp. sore throat, 2-4inc, rash 12-48. Strawberry tongue, sandpaper rash, hgih temp, need penicillin
• Roseola Infantum - human herpes 6&7, high grade fever and playful. Runny nose, irrtability.
• Sepsis
• Meningitis
• Encephalitis - infalmm brain substance Brain B neurotoxic virus (HSV)
• Toxic chock - S.aureus, GA atrep
• Necrotising fascitis. cellulitis
• Staph scalded syndrome - midl fever, painful rash, need flucloxacillin
• Erythema Multiforme + stephen Johnson syndrome - target lesions, 2weeks last. From hypersensitivty to drugs, infections…

Question 57

Constipation

Answer 57

• Infrequent passage of dry, hardened stool. Associated with straining, pain or bleeding
• Clinical – infrequent bowel movements, straining, abdominal pain, loss of appetite, soiling, overflow diarrhea.
• Examination – well child, abdomen soft, palpable faecal mass in lower abdomen.
• Laxatives – disimpaction regimen, stimulant, osmotic, stool softener
• Management – encourage oral fluids, encourage health, fibre rich diet and toileting routine
• Red flags:
  
  • Failure to pass meconium in 24h of life (Hirshsprungs)
  • Faltering growth (Hypothyroidism, Coeliac disease)
  • Abnormal lower limb neuro/deformity (Lumbosacral pathology)
  • Sacral dimple over natal cleft (Spina bifida occulta)
  • Perianal bruising (sexual abuse)

Question 58

Wheeze

Answer 58

• High pitched whistle sound, usually hear don expiration, indicated narrowed airway
• Causes – asthma, bronchiolitis, viruses, foreign body aspiration, structural abnormalities, congenital heart defects, GOERD
• Treatment – 02 as needed, SABA (if doesn’t respond to SABA ask why)

Viral induced wheeze:

• Common causes – RSV, Rhinovirus, Coronaviruses, Parainfluenza, Influenza
• Remember to ask: Prior episodes, admissions, ITU trips, ever needed IV therapy, steroids given previously, FH atopy, use inhalers at home and hwo often, explore triggers.

Question 59

Respiratory Distress syndrome (Hyaline Mebrane disease)

Answer 59

• Patho - Deficiency of surfactant which leads to wide spread alveolar collapse. inadequarte gas exchange
• Epidemiology- more common preterm <28 weeks, more in boys
• Prvention - glucocorticoids antenatally
• Clinical signs delivery or <4hrs.= tachypnea (>60bpm), laboured breathing (nasal flaring), expiratory grunting, cyanosis if severe.
• Treatment - Raised ambient O2+ surfactant therapy and possible repsiratry support CPAP/high flow nasal cannula/IV with mechanicla ventilation
• Complications - Pneumothorax

Question 60

Necrotising enterocolitis

Answer 60

• Patho - serious illness,Bowel of pretemr infant vulnerable to ischaemic injury and necrtoising enterocolitis.
• Rfs - Mor epremature , fed from cows milk formula
• Early signs - feed intolerance, vomiting (may be bile stained), abdomen distented and stool can contain fresh blood. may become shocked repaidly and nee dmechanical ventilation.
• Dx - Xray - distente dloop bowels, thickening bowel walls + itnramural gas (which may be in portsl venous tract). may progress to bowel perforation.
• Tx - stop oral feeding, and given broad spectrum Abs. Parenteral nutrition, possible mehcanical ventilationa nd circulatory support and surgery for bowel perforation.

Question 61

Chronci Lung disease (bronchopulmonary dysplasia is new name)

Answer 61

• Dx - Infants who have oxygen requirement still at postmenstrual age of 36weeks.
• CXR – widespread opacification, with possible cystic changes
• Patho - Lung damage mainly from delay in lung maturation but may also be from pressure + volume trauma from artificial ventilation, oxygen toxicity and infection.
• Tx – some need prolonged aritifical ventilation but most weaned onto CPAP or high flow nasal cannula with additional ambient oxygen. Corticosteroids may facilitate earlier weaning but concerns with these with abnormal neurodevelopment.
• Complication – Few with severe disease may die of intercurrent infection or pulmonary hypertension. Subsequent pertussis and respiratory viral infection may cause respiratory failure needed ICU.

Question 62

Long temr outcomes very low birth weight

Answer 62

5-10% of very low birthweight infants develop Cerebral palsy but most common impairments are learning difficulties (fine motor skills, concentration, behavioral problems, abstract reasoning, processes several tasks simultaneously.

Question 63

Jaundice in Term babies

Answer 63

• Causes:
  
  • <24h = hemolytic disorders, congenital infections
  • 24h -2 weeks = physiological, breast milk jaundice, infection, bruising ….
  • Physioligcal (no undelryign cause)- marked more release Hb from break down RBC as life span shorter and hepatic bilirubin metabolism less efficient in first few days lfife.
  • >2weeks - unconjugated or conjugated causes, may be biliary atresia
• COmplication - may be sign another disorder and unconjugated ilirubi deposited in brain causing kernicterus (encephalopathy)
• Clinical - jaundice when bilirubin reaches about 80uml/L
• Pattern - blaching skin with one finger. Check bilirubin. Start head/face and spread down
• Mx:
  
  • Phototherapy - converts unconjugated bilirubin to harmless wter soluble pigment excretd in urine
  • Exchange transfusion - if levels dangerous then blood removed and rpelaced with donor blood.

Question 64

Feeding in babies

Answer 64

• Breastfeeding or formula recommended until 12months. After 6m age breast milk isn’t enough so solid foods recommended ot be introduced between 17weeks – 26weeks

Question 65

Scabies

Answer 65

• Patho - Infestation with mites which burrow down epidermis along stratum corneum. Severe itching 2-6weeks after infestation and worse in warm conditions at night.
• Complciations – skin excoriated due to scratching anf secondary eczematous or urticarial reaction. Secondayr bacterial infections.
• Tx – whole family treted too. Permethrin cream below neck and washed off after 8-12hurs. Also malathion lotion is good.

Question 66

Febrile neutropenia

Answer 66

• Febrile neutropenia = neutrophil count of less than 1.0x10^9/L and temperature of 38C+ or above on one occasion. (Low temps may also indicate sepsis and same guidelines to follow)
• Empiric therapy with broad spectrum Abs.
• Fluid bolus
• Ix – FBC, UEC, blood culture, blood lactate, G&S, urine

Question 67

Immundeficiencies

Answer 67

• Primary (uncommon) – genetically determined defect in the immune system. Should be considered in those with Severe, Prolonged, Unusual or Recurrent infections.
  
  • Mx – Antimicrobial proph, antibiotic treatment, screening for end organ disease, immunoglobulin replacement therapy, bone marrow transplant, gene therapy
• Secondary (more common) – caused by another disease or treatment like malignancy, chemo malnutrition, HIV infection, immunosuppressive therapy, splenectomy, nephrotic syndrome.

Question 68

UC vs Crohns

Answer 68

Question 69

Child abuse

Answer 69

Child abuse = Term which describes all the ways in which a child’s development and health are damaged by the actions, or inactions of others, either by commission or omission.

• Physical abuse – shrinking, fear home/parents, unexplained absences, missed appointments
• Emotional – developmental delay, misbehaviour, fear new situations, self harm…
• Neglect – missed school, failure to thrive, avoid health appointments
• Sexual abuse – inappropriate sexual awareness,s aggressive, withdrawn etc (<13 cant consent to sexual,16 is legal age consent)
• Radicalization – isolating, scripted speech, disrespectful attitude, increased anger, secretiveness.

Sfaeguarding = Protecting children from abuse and maltreatment, preventing harm to their health or development, ensure they grow up safe and enabling them with the best outcomes. Look for RFs. younger, MH, domestic abuse, social/environment

Red flags = delayed presentation, unexplained injuries, improbable explanations, frequent admissions, missed appointments.

Look bruising, roal, fractures, abusive head trauma etc. Raise concern, prioritise child welfase, communicaiton, docs

Question 71

Headache red flags symptoms

Answer 71

Space occupying lesion Red flags:

• Worse on lying down or with coughing and straining
• Wakes up child
• Associated confusion and/or morning or persistent nausea or vomiting
• Recent change in personality, behaviour ot educational performance.
• Growth failure
• Visual field defects (craniopharyngioma)
• Squint
• Cranial nerve abnormality
• Torticollis
• Abnormal coordination (for cerebella lesions)
• Gait (UMN or cerebellar signs)
• Fundi (papilloedema)
• Bradycardia
• Cranial bruits (Arteriovenous malformation

Question 72

Sickle cell disease

Answer 72

• Patho – Autosomal recessive disease, HbS inherited. HbS polymeries within RBC, forming spirl bdies which deform RBCs into sickle shape and these hsve reduced lifespan and may be trapped leading to blood vessel occlusion and ischemia of organ o bone.
• Clinical – Anaemia, infection, painful crises, acute anemia, priapism, splenomegaly
• Long term problems – stroke, cognitive, cardiac enlargement, HF, renal dysfunction, leg ulcers, psychosocial problems.
• Mx – prophylacis for infection. Once daily folic acid. Avoid exposure to cold, dehydration, ecesive exercise, undue stress or hypoxia to minimize vaso-occlusie crisis.
• Acute crises – painful crises should be treated with oral/IV analgesia, antibiotics, o2.
• Chronic – hydroxycarbamide to increase Hbf production if frequently in hospital. If stroke so dont respond then bone marrow transplant.

Question 73

Thalassaemia

Answer 73

Thalassaemia = Name from group of inherited conditions that affect a substance in the blood called Hb.

• Produce too litter or no Hb so can be very anaemia.
• Mainly in Mediterranean, S.Asian, SE Asian and middle eastern origin.
• Main health problems associated – anaemia (tiredness, weak, SOB, pounding, palpitations, pale skin), too much iron in body (from reg blood transfusions). Also delayed growth, weak, fragile bones (osteoporosis) and reduced fertility.
• Screening – preg or soon after birth
• Tx – blood transfusion, chelation therpay (remove excess iron), healthy diet, exercise etc.
• B Thalassaemia: media and intermedia types.
• Clinical features – severe anemia from 3m-6m of age and jaundice, faltering growth/growth failure, extramedullary haemopoiesis prevented by reg blood transfusions.
• Complications- Pallor, jaundice, bossingof skull, maxillary overgrowth, splenomegaly + hepatomegaly.
• Mx – regular blood transfusions to reduce growth failure and prevent bone deformation.
• B-thalassaemia trait – heteroxygotes usually asymptomatic. Hypochromic and microcytic red cells. Anaemia mild/absent and reduction MCH, red blood cell count increased. Raised HbA2.
• A-thalassaemia:
• How severe depends on number a-globin genes (should be 4)
• Red cells hypochromic and microcytic
• Clinical

Question 74

Downs syndrome

Answer 74

• Patho - Trisomy 21, nondisjunction, translocation, mosaicism
• Presentation - antenatal, prenatal, clinical feature (rtPCR or fish TEST)
• Clinical - hypotonic, flat occiput, single palmar creases, incurved 5th finger, wide ‘scandal’ gap between big and scond toes.
  
  • craniofacial features - round face, flat nasla bridge, small ears…
  • Others - short nck, single palmar creases
• Later medical problems - delayed motor milestones, short staure, incresed susceptibility to infections
• Immediate medical complciations - increased risk of duodenal atresia, congenital ehart disease

Question 75

Haemophilia

Answer 75

• Patho - sever einherited coag disorder, X-linked recessive. Haemophilia A (FVIII def), Haemophilia B (FIX def)
• Clinical - recurrent spontaneous bleeding into joints and muscles which can lead to crippling arthritis I not properly treated. Most present end of 1styear life. In neonatal period then intracranial hemorrhage, bleeding post circumcision or prolonged oozing from heel prick or venipuncture sites.
• Severity: Severe (<1% FVIII, spotnaneous), Mod (1-5%, after minor trauma), mild (>5-40%, after surgery)
• Mx - Recombinant FVIII (HA), Recombinant FIX (HB) prompt infusion if bleeding, prophylactic too.
• Complications - transfusion transmitted infections, vascualr access

Question 76

DDH: Developmental dysplasia of the hip

Answer 76

• Spectrum disorders ranging from dysplasia to subluxation through to frank dislocation of the hip.
• Neonatal screening – Barlow manouvre or ortolani manouvre. Then repeated at routine surveillance 8w)
• Presentation – limp or abnormal gait. Asymmetyr o skinfolds around hip, limited abduction of hip or shortening of affected leg.
• Need US
• May have splint or harness to keep hip flexed or abducted. Porgress with repeat USs or Xray.

Question 77

Arthritis presentation

Answer 77

Acute Arthritis: Pain, swelling, heat, redness, restricted movement in a joint. In acute monoarthritic also systemically unwell with fever and if septic arthritis/osteomyelitis is the cause then need urgent diagnosis and treatment.

• Reactive arthritis – transient joint swelling (<6weeks) often on ankles or needs and often evidence extra articular infection
• Septic arthritis – serious infection joint space, usually in <2yrs. Warm, acutely tender joitn and reduced ROM in acutely unwell, febrile child.
• Juvenile idiopathic arthritis – persistent joint swelling >6weeks before 16years age with absence of cause.

Question 78

Food allergy - features and management

Answer 78

• Patho – pathological immune response is mounted against a specific food protein. Usually IgE mediated. Non-immunological hypersensitivity reaction to a specific food is called a food intolerance.
• Primary common allergies – Infants (milk, egg, peanut), older children (peanut, tree nut, fish, shellfish)
• Secondary allergies – due to cross reactivity between proteins in fresh fruit/veg/nuts and those in pollens
• Clinical:
• IgE – urticaria to anaphylaxis usually 10-15mins after ingestion
• Non IgE.- diarrhoea, vomiting, abo pain, faltering growth and possible colic and eczema and may have blood in stools in first few weeks of life.
• Diagnosis: for IgE then mostly skin prick tests and measure IgE Abs in blood. Greater response, more likely allergic. For non IgE then history, exam, pos endoscopy/intestinal biopsy. sometimes need uspervised food challenge.
• Mx – avoid food. must be bale to manage allergic attack. for mild then non-sedating antihistamines and severe is adrenaline.

Question 79

Heel prick test

Answer 79

• Blood spot test
• Blood sample to find out if baby has one: Sickle cell disease, CF, congenital hypothyroidism, inherited metabolic diseases (PKI, MCADD, MSUD, IVA, GA1, HCU), SCID,
• 5days old, collect 4 drops bloods.

Question 80

Newborn check -1st day life

Answer 80

1. Intro, history
2. Weight
3. General inspection
4. Tone
5. Head – circumference, fontonella
6. Skin
7. Face
8. Eyes – appearance + movement, check cataracts, fundal reflex
9. Ears
10. Mouth and palate
11. Neck and clavicles
12. Upper limbs
13. Chest – lungs, heart, oximetry
14. Abdo – and palpate
15. Genitalia – testicles descended, position urethral meats, absent testicle, fused labia
16. Lower limbs – tone, movement, pulses, barlows/Ortolanis test, DDH
17. Back and spine
18. Anus
19. Reflexes

Question 81

FBC/U&E interpretation

Answer 81

Question 82

Blood glucose, iflammatory markers and blood cultures normal

Answer 82