Selected Notes paeds 1 Flashcards
Describe the anatomy of a patient with androgen insensitivity syndrome
Testes in abdomen/inguinal canal
Absence of uterus, vagina, cervix, fallopian tubes and ovaries
Describe the possibel presentation of a patient with partial androgen insensitivity syndrome
<ul><li>More ambiguous if partial</li><li>Micropenis/clitoromegaly</li><li>Bifid scrotum</li><li>Hypospadias</li><li>Diminished male characteristics</li></ul>
Descirbe the symptoms of androgen insensitivity syndrome
<ul><li>can present in infancy with inguinal hernias containing testes</li><li>'primary amenorrhoea'-puberty</li><li>little or no axillary and pubic hair</li><li>undescended testes causing groin swellings</li><li>breast development may occur as a result of the conversion of testosterone to oestradiol</li><li>usually slightly taller than female average</li></ul>
Describe the key symptoms of Kawasaki disease
High grade fever and CREAM:<br></br><ul><li>Conjunctivits (bilateral and non exudative)</li><li>Rash (non-bullous)</li><li>Edema/erythema of hands and feet</li><li>Adenopathy (cervical, commonly unilateral and non-tender)</li><li>Mucosal involvement (strawberry tongue, oral fissures etc)</li></ul><br></br>
Describe the management of patients with Kawasaki disease
<ul><li>High dose aspiring</li><li>IVIG</li><li>Echos and close follow up</li></ul>
Describe the rash typically seen in measles
<div><ul><li>Discrete maculopapular rash becoming blotchy and confluent</li><li>Desquamation that typically spares the palms and soles may occur after a week</li><li>Rash starts behind the ears then spreads to the whole body</li></ul></div>
Describe the mangement of measles
<ul><li>Mainly supportive-antipyretics</li><li>Admission for immunossuprressed or pregnant patients</li><li>Inform public health->notifiable disease</li><li>Vitamin A to children under 2 years</li><li>Ribavirin may reduce duration of symptoms but not routinely recommended</li></ul>
Describe the management of people who ocme into contact with patients with the measles
<ul><li>If no immunised: offer MMR-should be given within 72 hours</li></ul>
At what age does chicken pox usually occur?
1-9 years
Describe the rash associated with chicken pox?
<ul><li>Starts as raised red itchy spots on face/chest which then spreads to rest of body</li><li>Progresses into small, fluid filled blisters over a few days</li><li>Crusts over and heals, usually leaving no scars</li></ul>
Describe the management of chicken pox
<ul><li>Trim nails to prevent scratching and infection</li><li>Enocurage loos clothing</li><li>Cooling measures like oatmeal baths and calamione lotion to reduce tiching</li><li>Analgesics and antipyretics for symptom relief</li><li>If immunocompromised: IV aciclovir and human varicella-zoster immunoglobulin (VZIG)</li></ul>
Describe the epidemiology of rubella
<ul><li>Less common now due to widespread vaccination</li><li><br></br></li></ul>
Describe the presentation of a patient with rubella
<ul><li>Fever: low grade</li><li>Coryza</li><li>Arthralgia</li><li>A rash that begins on the face and moves down to the trunk</li><li>Lymphadenopathy, especially post-auricular and suboccipital</li></ul>
Describe the rash associated with rubella
<ul><li>Maculopapular rash that startso n the face before spreading to the whole body, usually fades by day 3-5</li></ul>
<b>Describe the pathophysiology of diphtheria:<br></br></b><br></br><ul><li>Releases an {{c1::exotoxin}} encoded by a {{c2::Beta-prophage}}</li><li>Exotoxin inhibits {{c3::protein synthesis}} by catalyzing {{c4::ADP-ribolysation}} of {{c5::elongation factor EF-2}}</li></ul>
<ul><li>Releases an exotoxin encoded by a Beta-prophage</li><li>Exotoxin inhibits protein synthesis by catalyzing ADP-ribolysation</li></ul>
Describe the presentation of a patient with staphylococcal scalded skin syndrome
<ul><li>Superficial fluid-filled blisters, often leading to erythroderma</li><li>Desquamation and positive Nikolsky sign</li><li>Perioral crusting or fissuring with oral muscoa unaffected</li><li>Skin has a 'scalded' look due to loss of superficial layers of epidermis</li><li>Fever and irritability common due to underlying infection</li></ul>
Describe how a patient with meningitis might present?
<ul><li>Fever</li><li>Neck stiffness</li><li>Severe headache</li><li>Photophobia</li><li>Rash</li><li>Focal neurological deficits.signs of raised ICP</li></ul>
Describe the management of meningitis
<ul><li><3 months: IV amoxicillin(or ampicillin) and IV cefotaxime</li><li>>3 months: IV cefotaxime (or ceftriaxone)</li><li>Dexamethasone if >3 months and bacterial</li><li>Fluids</li><li>Cerebral monitoring and supportive therapy</li><li>Public health notification and antibiotic prophylaxis</li></ul>
Describe the epidemiology of Fifth disease
<ul><li>Common in late winter and early spring</li></ul>
Describe the management of Fifth’s disease
<ul><li>Supportive: rest, hydration etc</li><li>Hsopitlisation for severe complications</li></ul>
Describe the epidemiology of pneumonia in children
<ul><li>Highest incidence in infants</li><li>Young infants: usually viral</li><li>Older children: usually bacterial</li><li>Viral causes mroe common in the winter</li></ul>
Describe the symptoms of pneumonia in children
<ul><li>Usually preceded by an URTI</li><li>Fever</li><li>Difficulty breathing</li><li>Lethargy</li><li>Poor feeding</li></ul>
Describe the aetiology/risk factors of asthma
<ul><li>Genetics</li><li>Atopy(allergy, eczema)</li><li>Allergen exposure</li><li>Prematurity</li><li>Cold air</li><li>Low birth weight</li><li>Viral bronchiolitis early in life</li><li>Parental smoking</li></ul>
Describe the pathophysiology of asthma
<ul><li>Bronchial inflammation-> oeadema and increased mucus production and infiltration with esoniphils, mast cells, neutrophils, lymphocytes->bronchial hyperresponsiveness->reversible aurflow obstruction</li></ul>
Describe the stepwise management of asthma in children over 5
<ol><li>SABA PRN(salbutamol)</li><li>ICS prophylaxis(beclomethasone)</li><li>LTRA(montelukaust)</li><li>Stop LTRA and add LABA(salmeterol)</li><li>Switch ICS/LABA for ICSMART(formeterol and ICS)</li><li>Add separate LABA</li><li>High dose ICS(>400mcg) and referral</li></ol>
Descirbe the stepwise maangement of asthma in children<5 years
<ol><li>SABA PRN(salbutamol)</li><li>ICS prophylaxis(beclomethasone)-trial for 8 weeks then refer</li><li>LTRA(montelukaust)</li><li>Stop LTRA and add LABA(salmeterol)</li><li>Switch ICS/LABA for ICSMART(formeterol and ICS)</li><li>Add separate LABA</li><li>High dose ICS(>400mcg) and referral</li></ol>
Describe the features of a SABA?
<ul><li>Short acting B2 agonists</li><li>Salbutamol/terbutaline</li><li>Few side effects, effective for 2-4 hours</li></ul>
Describe the features of a LABA
<ul><li>Long acting B2 agonists</li><li>Salmeterol/formoterol</li><li>12 hours</li><li>Can't be used without ICS</li></ul>
Describe the features of ipratropium bromide
<ul><li>Anticholinergic bronchodilator</li><li>Young infants if other bornchodilators uneffective</li><li>Treatment for severe acute asthma</li></ul>
Describe the features of an ICS
<ul><li>Inhaled corticosteroids</li><li>Decrease airway inflammation->prophylaxis</li><li>Systemic side effects: impaired growth, adrenal suppression, altered bone metabolism</li></ul>
Describe the features of severe acute asthma
<ul><li>Too breathless to talk/feed</li><li>Use of accessory neck muscles</li><li>O2<92%</li></ul>
Describe the management of a severe acute asthma attack
<ul><li>O2 via facemask/nasal prongs</li><li>SABA: 10 puffs nebulised or through spacer</li><li>Oral prednisolone/Iv hydrocortisone</li><li>Nebulised ipratroprium bromide if poor response</li><li>Repeat bronchodilators every 20-30 minutes as needed</li></ul>
Describe the management of a life threatening asthma attack
<ul><li>O2 via face masks/nasal prongs</li><li>Nebulised B2 agonist and ipatropium bromide</li><li>IV hydrocortisone</li><li>Senior clinician involvement</li></ul>
<div>If poor response:</div>
<div><ul><li>Transfer to HDU->CXR and blood gases</li><li>IV salbutamol/aminophylline</li><li>Bolus of IV magenisum sulphate</li></ul></div>
Describe the epidemiology of croup
<ul><li>Children: 6 months-6 years</li><li>Peak incidence aged 3</li><li>Common in autumn</li><li>Highly prevalent-> affects 1/6 children at least once in their life</li></ul>
Describe the presentation of a child with mild croup
<ul><li>Occasional barking cough with no audible stridor</li><li>No recession</li><li>Child eating and drinking as normal</li></ul>
Describe the presentation of a patient with moderate croup
<ul><li>Frequent barking cough</li><li>Prominent stridor</li><li>Marked sternal recession</li><li>Agitated child</li><li>Tachycardia</li></ul>
Describe the management of mild croup
<ul><li>At home with simple analgesia, fluids, rest etc</li><li>Single dose dexamethasone in primary care</li><li>Minimise crying as this will worsen airway obstruction</li></ul>
Describe the management of moderate/severe croup
<ul><li>Admission to hospital</li><li>Monitoring: may ned ENT intervention</li><li>Nebulised adrenaline for severe symptoms</li><li>Minimise crying</li></ul>
Describe the presentation of a patient with bronchiolitis
<ul><li>Sharp, dry cough</li><li>Laboured breathing/wheezing</li><li>Tachypnoea/tachychardia</li><li>Subcostla.intercostal recessions</li><li>Cyanosis/pallor</li><li>Fine end inspiratory crackles and high pitched wheezes</li><li>Hyperinflation of the chest->prominent sternum, liver displacement downwards</li><li>Low grade fever, cough, rinhorrhoea, nasal congestion</li></ul>
Describe the at home management of bronchiolities
<ul><li>Supportive management-> fluids, simple analgesia etc</li></ul>
Describe the management of bronchiolitis in the hospital
<ul><li>Oxygen through nasal cannula/fluids</li><li>CPAP if respiratory failure</li><li>Suctioning of secretions</li><li>If severe: antiviral therapy(ribavarin)</li></ul>
Describe the pathophysiology of bronchiolitis obliterans
<ul><li>Bronchioles injured due to infection/inhalation of harmful substance</li><li>Leads to build up of scar tissue from an overactive cellular repair process</li><li>Scar tissue obstructs bronchioles-> impaired O2 absorption</li><li>Can lead to respiratory failure</li></ul>
<b>Aetiology of cystic fibrosis:</b><br></br>Mutations in {{c1::CFTR protein}} on Chromosome {{c1::7}}-> defects of {{c1::chloride transport}} across cell membranes-> {{c1::thick mucus secretions}} and {{c1::impaired ciliray functions.}}<br></br>Secretions block {{c1::pancreatic ducts}}-> enzyme deficiency and malabsorption
Describe the management of acute epiglottitis
<ul><li>Immediate senrio involvement: ENT, anaesthetics</li><li>Endotracheal intubation</li><li>Culturing and examination of throat once airway secure</li><li>Oxygen</li><li>Nebulised adrenaline</li><li>IV antibiotics: 3rd gen cephalosporin: IV cefotaxime/ceftriaxone</li></ul>
Describe the pathophysiology of viral induced wheeze
<ul><li>Small airways->inflammation and oedema-> triggers smooth muscles of airway to constrict-> narrowing-> wheeze</li><li>Restricted airway-> respiraotry distress</li></ul>
Describe the management of viral induced wheeze
<ul><li>Same as acute asthma treatment</li><li>SABA via spacer max 4 hourly up to 10 puffs</li><li>LTRA and ICS via spacer</li></ul>
Describe the epidemiology of otitis media
<ul><li>Common, espically in those <4 years</li><li>Often occurs post viral URTI</li></ul>
Describe the pathophysiology of otitis media
<ul><li>Secondary to oedema and narrowing of eustachian tube-> prevents middle ear from draining-> predisposing it to colonisation of bacteria</li></ul>
Describe the epidemiology of glue ear
<ul><li>Peaks at 2 years of age</li><li>Commonest cause of conductive hearing loss in children</li></ul>
Describe the management of glue ear
<ul><li>Audiometry to assess extent of hearing loss</li><li>Conservative-> wait and monitor, give it 3 months to resolve</li><li>If not resolved in >3 months: refer for grommets and adenoidectomy</li></ul>
Describe the pathophysiology of strabismus
<ul><li>In childhood before eyes have fully established connections with brain, brain copes with misalignment byy reducing signal from less dominant eye</li><li>One dominant eye and one 'lazy' eye</li><li>Lazy eye becomes progressively more disconnected resulting in ambylopia</li></ul>
Describe the presentation of a patient with impetigo
<ul><li>Erythematous macule that vesiculates or pustulates</li><li>Superficial erosion with a characteristic golden crust</li></ul>
<div><img></img><br></br></div>
Describe the management of localised non-bullous impetigo
<ol><li>Topical hydrogen peroxide 1%</li><li>Fusidic acid or mupirocin</li></ol>
Describe the management of widespread non-bullous impetigo
<ul><li>Topical fusidic acis/mupirocin OR antibioics for 5 days(flucloxacillin)</li><li>Clarithromycin(allergic) or erythromycin(pregnancy) as alternative antibiotics</li></ul>
Describe the management of bullous impetigo
<ul><li>Oral antibiotics or up to 7 days</li><li>Flucloxacillin</li><li>Clarithromycin or erythromycin as alternatives</li></ul>
Describe the aetiology of toxic shock syndrome
<span>TSS is caused by the exotoxin produced by certain strains of bacteria, acting as a superantigen. This causes polyclonal T cell activation and massive cytokine release, notably IL-1 and TNF-alpha, leading to shock and multi-organ failure.</span>
Describe the presentation of a patient with toxic shoxk syndrome
<ul><li>Early, non-specific flu like symptoms</li><li>Rapid progression to high fever, widespread rash</li><li>Multi-organ involvement -hypotension for cardiac depressiona nd ocnfusion for encephalopathy</li></ul>
Describe the management of toxic shock syndrome
<ul><li>DRABCDE0aggressive fluid and electrolye resusciation</li><li>Immediate cessation to persisting infection sources</li><li>Antibiotics: clindamycin and cephalosporin</li><li>Corticosteroids in some cases</li></ul>
Describe the epidemiology of scarlet fever
<ul><li>Children aged 2-6 years</li><li>Peak incidence: 4 years</li></ul>
Describe the rash associated with scarlet fever
<ul><li>Red-pink blotchy macular rash with rough 'SANDPAPER' skin</li><li>Starts on trunk and spreads outwards</li></ul>
Describe the presentation of a patient with scarlet fever
<ul><li>Fever: 24-48 hours</li><li>Malaise, headache, sore throat, n+v</li><li>Strawberry tongue</li><li>Rash</li></ul>
Describe the pathophysiology of an ASD
<ul><li>Shunt from left to right</li><li>Blood continues to flow to lungs so no cyanosis</li><li>Increased blood flow to right side-> right side overload,r ight heart failure and pulmonary hypertension</li><li>Over time pulmonary pressure>systemic pressure-> right to left shunt and cyanosis(Eisenmenger syndrome)</li></ul>
Describe the pathophysiology of coarctation of the aorta
<ul><li>Narrowing of aortic arch-> reduced pressure of blood flowing to distal arteries and increases pressure in the heart and first 3 branches of the aorta(proximal)</li></ul>
Describe the signs of coarctation of the aorta in infancy
<ul><li>Tachypnoea and increased work of breathing</li><li>Poor feeding</li><li>Grey and floppy baby</li></ul>
Describe the signs of coarctation of the aorta in an older child
<ul><li>Left ventricular heave due to left ventricular hypertrophy</li><li>Underdeveloped left arm where there is reduced blood flow to the left subclavian arter</li><li>Underdevelopment of the legs</li><li>Adults: hypertension</li></ul>
A neonate is found to weak femoral pulses, how would you further investigate?
Suspect coarctation of aorta<br></br>Perform a 4 limb blood pressure: high blood pressure in limb supplied from arteries that come before the narrowing and lower blood pressure in lumbs that come after the narrowing
Describe the pahophysiology of a ventricular septal defect
<ul><li>Hole in ventricular septum</li><li>L-R shunt as pressure in left is greater: no cyanosis</li><li>Right sided overload, RHF, increased flow to pulmonary vessels and pulmonary hypertension</li><li>Over time, R pressure >L , R->L shunt-> cyanosis(Eisenmenger syndrome)</li></ul>
Describe the medical management of tet spells
<ul><li>Oxygen</li><li>Beta blockers</li><li>IOV fluids</li><li>Morphine</li><li>Sodium bicarbonate</li><li>Phenylehrine infusion</li></ul>
Define transposition of the great arterie
<ul><li>Attachments of the aorta and pulmonary trunk to the heart are transposed</li><li>RV pumps blood into the aorta</li><li>LV pumps blood into pulmonary vessels</li></ul>
Describe the epidemiology of transposition of the great arteries
<ul><li>M>F</li><li>Maternal diabetes</li></ul>
Describe the pathophysiology of transposition of the great arteries
<ul><li>Failure of the aorticopulmonary septum to spiral during septation</li><li>Aorta arises from RV and pulmonary vessels arise from LV</li><li>2 parallel circuits incompatible with life</li></ul>
Describe the symptoms of Ebstein’s anomaly
<ul><li>Cyanosis</li><li>SOB and tachypnoea</li><li>Poor feeding</li><li>Collapse</li><li>Heart failure symptoms like oedema</li></ul>
Describe the pathophysiology of congenital aortic valve stenosis
<ul><li>Aortic valve usually 3 leaflets, may have 1/2/3/4 leaflets isntead</li></ul>
Describe the symptoms of congenital aortic valve stenosis
Asymptomatic<br></br>Severe:<br></br><ul><li>Fatigue</li><li>SOB</li><li>Dizziness</li><li>Fainting</li></ul><div>Symptoms worse one exertion</div><div><ul><li>May present with heart failure a few months after birth</li></ul></div>
Describe the symptoms of congenital pulmonary valve stenosis
<div>Asymptomatic-picked up accidentally</div>
<div><ul><li>Fatigue on exertion</li><li>SOB</li><li>Dizziness</li><li>Fainting</li></ul></div>
Describe the management of congenital pulmonary valve stenosis
<ul><li>Mild-watch and wait-monitor</li><li>Ballon valvoplasty via venous catheter to dilate valve</li><li>Open heart surgery</li></ul>
Describe the epidemiology of noctunral enuresis
<ul><li>M>F</li><li>Roughly 2/3 will have a sstrong family history</li><li>Children generally healthy</li><li>Secondary type is associated with psychological stress</li></ul>
Describe the management of nocturnal enuresis
<div>General advice:</div>
<div><ul><li>Fluid intake</li><li>Toileting patterns-> encourage bladder emptying</li><li>Reward systems-> 'Star charts' use for good behaviour(like using the toilet before bed), not for 'dry' night</li></ul><div>1st line:</div></div>
<div><ul><li>Enuresis alarm</li><li>Sensor pads that sense wetness</li><li>High success rates</li></ul><div>2nd line:</div></div>
<div><ul><li>Desmopressin(Synthetic ADH)</li></ul></div>
Describe the aetiology of typical haemolytic uraemic syndrome
<ul><li>Toxin induces damage to the endothelium of glomerular capillary bed causing thrombotic microangiopathy</li></ul>
Describe the aetiology of atypical haemolytic uraemic syndrome
<ul><li>Familial-> dysregulation in complement cascade triggers atypical haemolytic uraemic syndrome</li></ul>
Describe the pathophysiology of haemolytic uraemic syndrome
<ul><li>Endothelial injury-> microvascular thrombosis-> AKI+MAHA+thrombocytopenia</li></ul>
Describe the epidemiology of a UTI
<ul><li>Higher prevalence in males until 3 months, then higher prevalence in females</li></ul>
Describe the symptoms of a UTI in infants <3 months
<ul><li>Fever</li><li>Vomiting</li><li>Lethargy</li><li>Irritability</li><li>Poor feeding</li><li>Failure to thrive</li><li>Offensive urine</li></ul>
Describe the symptoms of a UTI in an infant aged between 3-12 months?
<ul><li>Fever</li><li>Poor feeding</li><li>Abdo pain</li><li>Vomiting</li></ul>
Describe the symptoms of a UTI in a child >1yr?
<ul><li>Frequency</li><li>Dysuria</li><li>Abdo pain</li><li>Haematuria</li></ul>
Describe some signs that would point towards an upper UTI
Fever>38 degrees<br></br>Loin pain and tenderness
Describe the management of a UTI in a patient <3 months
<ul><li>Immediate referral to a paediatrician</li><li>ABX</li></ul>
Describe the management of a UTI in a child >3 months
<ul><li>If upper: consider admission, oral cephalosporin/co-amoxiclav for 7-10 days</li><li>If lower: Oral nitrofurantoin/trimethoprim and safety net(bring back if no improvement in 24-48 hours)</li></ul>
Describe the epidemiology of vesicoureteric reflux
<ul><li>1-3% of children</li><li>Often familial predisposition</li></ul>
Describe the presentation of vesicoureteric reflux
<ul><li>Recurrent/atypical UTI's</li><li>Persistent bacteriuria</li><li>Unexplained fevers, abdominal/flank pain</li><li>If severe: renal scarring-> hypertension and CKD</li></ul>
Describe the conservative management of vesicoureteric reflux
<ul><li>Prophylactic antibiotics to prevent UTIs</li><li>Monitor kidney function and growth</li><li>Treat constipation</li></ul>
Describe the surgial management of vesicoureteric reflux
<ul><li>Ureteral reimplantation</li></ul>
Describe the epidemiology of Wilms’ tumour
<ul><li>Children <5 years</li><li>Incidence peaks 3-4 years</li></ul>
Describe the management of Wilms’ tumour
<ul><li>Urgent review(within 48 hours)</li><li>Nephrectomy</li><li>Chemotherapy</li><li>Radiotherapy if advanced</li></ul>
Describe the pathophysiology of cryptorchidism
<ul><li>Incomplete migration of testis during embryogenesis from original retroperitoneal position near kidneys to final position in scrotum</li></ul>
Describe the management of bilateral undescended at birth testicles
<ul><li>Urgent referral within 24 hours</li><li>Genetics/endocrine-> rule out congenital adrenal hyperplasia</li><li>Review at 3 months</li><li>Refer to surgeons by 6 months</li><li>Orchidopexy at 6-18 months</li></ul>
Describe the management of unilateral cryptorchidism at birth
<ul><li>Review at 6-8 weeks</li><li>Then review at 3 months</li><li>Then review at 5 months</li><li>Refer by 6 months</li><li>Orchidopexy at 6-18 months</li></ul>
Describe the epidemiology of hypospadias
<ul><li>3/1000</li><li>Genetic element</li></ul>
Describe the features of hypospadias
<ul><li>Ventral urethral meatus</li><li>Hooded prepuce</li><li>Chrodee(ventral curve of penis) in severe cases</li><li>Urethral meatusmay open more proximally in severe variants</li></ul>
Describe the amangement of hypospadias
<ul><li>Refer to specialist</li><li>If very distal, may not need treatment</li><li>Corrective surgery at around 12 months-DO NOT CIRCUMCISE</li></ul>
Describe the aetiology of phimosis
<ul><li>STI's</li><li>Eczema</li><li>Psoriasis</li><li>Lichen planus/lichen sclerosis</li><li>Balanitis</li></ul>
Describe the presentation of a patient with phimosis/paraphimosis
<ul><li>Non-retractable foreskin-> may interfere with urination/sexual function</li><li>Paraphimosis-> swollen and painful glanss, tight band of foreskin-> ischaemia-> discolouration and severe pain</li></ul>
Describe the management of phimosis
<ul><li>Wait and see</li><li>Topical corticosteroids</li><li>Stretching exercises</li><li>Personal hygiene</li></ul>
Describe the management of paraphimosis
<ul><li>Manual pressure</li><li>Osmotic agents</li><li>Puncture techniques</li><li>Surgical reduction and circumcision</li><li>Personal hygiene advice</li></ul>
Describe the pathophysiology of nephrotic syndrome
<ul><li>Damage to glomerular basement membrane and podocytes results in increaed permeability to protein</li><li>Lower plasma oncotic pressure-> hypoalbuminaemia and oedema</li></ul>
Describe the management for nephrotic syndrome
<ul><li>High dose steroids, taper over time</li><li>Diuretics for oedema</li><li>Low salt diet</li></ul>
Describe a typical presentation of nephrotic syndrome in a child
<ul><li>Well child, insidious onset of pitting oedema, initially periorbital then generalised</li><li>History of recent URTI</li><li>Cna progress to anorexia, GI changes, ascites, oliguria, SOB</li><li>Risk of infection/thrombosis</li></ul>
Descirbe the aetiology of minimal change disease
<ul><li>Idiopathic in most cases</li><li>Often seen post viral URTI</li><li>Drugs: NSAID's, rifampicin</li><li>Hodgkin's lymphoma</li><li>Infectious mononucleosis</li></ul>
Describe the management of minimal change disease
<ul><li>Oral corticosteroids-> prednisolone, tapering regime</li><li>If poor response: immunosuprpesives like ciclosporin/cyclophosphamide</li><li>Fluids restriction and lower salt intake</li><li>If high fluid overload: furosemide</li></ul>
Describe the prognosis of minimal change disease
<ul><li>1/3 resolve completely with no other episodes</li><li>1/3 have further relapses requiring further steroids</li><li>1/3 dependent on steroid therapy</li></ul>
Describe the pathophysiology of IgA nephropathy
<ul><li>IgA immune complexes become lodged in the mesangium of the glomerulus</li><li>Combination of IgA deposition, activation of the complement pathway and cytokine release lead to glomerular injury</li></ul>
Describe the management of IgA nephropathy
<ul><li>Isolated haematuria+no/minimal protenuria(<500-1000mg/day)+normal GFR: follow up to check renal function</li><li>Persistent protenuria(>500-1000mg/day)+normal/slightly reduced GFR: initial treatment with ACE inhibitors<br></br></li><li>IAcitve disease: Falling GFR/no reponse to ACE inhibitors: immunosuppression with corticosteroids<br></br></li></ul>
Describe the prognosis of IgA nephropathy
<ul><li>30% progress to end stage renal failure</li></ul>
Describe the presentation of post strep glomerulonephritis
<ul><li>Haematuria(visible-ribena/coke), oliguria, hypertension +/-oedema 1-3 weeks post infection(s.pyogenes)</li><li>Some may be asymptomatic</li></ul>
Describe the maangement of post strep glomerulonephritis
<ul><li>Usually self resolving</li><li>Handle AKI</li></ul>
Describe some symptoms of hypogonadism
<ul><li>Lethargy</li><li>Weakness</li><li>Weight gain</li><li>Loss of libido</li><li>Erectile dysfunction</li><li>Gynaecomastia</li><li>Depression</li></ul>
Describe the management of hypogonadism
<ul><li>Hormone replacement therapy: usualy testosterone injections/oral</li><li>Monitoring therapy to check for polycythaemia, changes in bine ineral density, prostate status and LFTs</li></ul>
Describe the symptoms of Klinefelter syndrome
<ul><li>Taller height than average</li><li>Lack of secondary sexual characteristics</li><li>Small, firm testes</li><li>Infertile</li><li>Gynaecomastia-increased risk of breast cancer</li><li>Reduced libido</li><li>Wider hips</li><li>Weaker muscle</li><li>Subtle learning difficulties</li></ul>
Describe the prognosis of Klinefelter syndrome
<ul><li>Close to normal</li></ul>
Describe the epidemiology of Turner’s syndrome
<ul><li>Roughly 1/2500</li><li>Incidence DOES NOT increase with maternal age</li><li>Low risk of recurrence</li></ul>
Describe the clinical features of Turner’s syndrome
<ul><li>Short stature</li><li>Shield chest, widely spaced nipples</li><li>Webbed neck</li><li>High arching palate</li><li>Wide carrying angle/cubitus valgus</li><li>Delated/incomplete puberty</li><li>Primary amenorrhoea</li><li>Bicuspid aortic valve, coarctation of the aorta</li><li>Infertilitiy</li></ul>
Describe the management of Turner’s syndrome
<ul><li>Human growth hormone: during childhood to increase height</li><li>Oestrogen replacement therapy: allow development of secondary sex characteristics, prevent osteoporosis</li><li>Medical care to manage associated problems, including fertility treatment</li></ul>
Describe the epidemiology of Down’s syndrome
<ul><li>Common</li><li>Incidence increases with increasing maternal age, especially if resulting from gamete non-disjunction</li></ul>
Describe the facial features of Down’s syndrome
<ul><li>Upslanting palepbral fissures</li><li>Prominent epicanthic folds</li><li>Brushfield spots in iris</li><li>Protruding tongue</li><li>Small, low-set ears</li><li>Round/flat face</li><li>Brachycephaly(small head with flat back)</li><li>Single transverse palmar crease</li></ul>
Describe the management of Down’s syndrome
<ul><li>MDT approach</li><li>OT, SALT, Physio, dietitiacn, paeds, GP</li><li>ENT and audiologist for ear problems</li><li>Cardiologists for congenital heart disease</li><li>Opticians for glasses</li></ul>
Describe the inheritance of Fragile X
<ul><li>X-linked</li><li>Males always effects, females may or may not be(have spare copy of FMR1 gene on other X chromosome)</li></ul>
Descirbe the features of Noonan syndrome
<ul><li>Webbed neck</li><li>Pectus excavatum</li><li>Short stature</li><li>Pulmonary stenosis</li></ul>
Describe the features of Pierre-Robin syndrome?
<ul><li>Micrognathia</li><li>Posterior displacement of the tongue->upper airway obstruction</li><li>Cleft palate</li></ul>
Describe the features of Prader Willi syndrome
<ul><li>Hypotonia</li><li>Hypogonadism</li><li>Obesity</li><li>Short stature</li><li>Dysmorphic features</li></ul>
<div>Typical history: feeding is a challenge initially due to hypotonia, then becomes hyperphagia</div>
Describe the features of William’s syndrome
<ul><li>Very sociable</li><li>Starburst eyes(star like pattern on iris)</li><li>Wide mouth with big smile</li><li>Short stature</li><li>Learning difficulties</li><li>Friendly, extroverted personality</li><li>Transient neonatal hyperglycaemia</li><li>Supravalvular aortic stenosis</li></ul>
Describe the features of a patient with Duchenne muscular dystrophy
<ul><li>3-5 yrs present with progressive proximal muscle weakness</li><li>Calf pseudohypertrophy</li><li>Gower's sign</li><li>30% also have intellectual impariment</li></ul>
Describe the prognosis of Duchenne muscular dystrophy?
<ul><li>Most can't walk by age 12 years</li><li>Uusally survive until 25-30 years</li><li>Associated with dilated cardiomyopathy</li></ul>
Describe the features of myotonic dystrophy?
<ul><li>Progressive muscle weakness</li><li>Proloonged muscle contraction: patient can't let go after shaking someones hand, or release grip on a doorknob</li><li>Cataracts</li><li>Cardiac arrhythmias</li></ul>
Describe the features of Angelman syndrome
<ul><li>Fascination with water</li><li>Happy demeanour</li><li>Widely spaced teeth</li><li>Also learnign difficulties, ataxia, hand flapping, ADHD, dysmorphic features, epilepsy etc</li></ul>
Describe the management of Angelman syndrome
<ul><li>No cure, MDT holistic care appproach</li><li>Physio and OT</li><li>CAMHS</li><li>Parental education</li><li>Educational and social services support</li><li>Anti-epileptic medication if needed</li></ul>
Describe the management of prader willi syndrome?
<ul><li>Growth hormone</li><li>Dietary management to prevent obesity</li><li>PT and exercise problems</li><li>Educational interventions to support cognitive development</li></ul>
Describe the features of Noonan syndrome
<ul><li>Turner's(webbed neck, wide nipples, short, pectus carinatum/excavatum)</li><li>Pulmonary valve stenosis</li><li>Ptosis</li><li>Triangular shaped face</li><li>Low set ears</li><li>Coagulation problems: Factor 9 deficiency</li></ul>
Describe the management of William’s syndorme?
<ul><li>MDT approach</li><li>Echos and BP monitoring for cardiac complications: aortic stenosis and hypertension</li><li>Low calcium diet and avoid calcium and vitamin D supplements: hypercalcaemia</li></ul>
Describe the inheritance pattern of osteogenesis imperfecta?
<ul><li>Autosomal dominant</li></ul>
Describe the aetiology of osteogenesis imperfecta
<ul><li>Mutations in COL1A1 and COL1A2 which code for the alpha chains of type 1 collagen</li><li>Decreased synthesis of pro-alpha 1 or pro-alpha 2 collagen polypeptides</li></ul>
Describe the features of a patient with osteogenesis imperfecta
<ul><li>Presents in childhood</li><li>Fractures following minor trauma</li><li>Blue clera</li><li>Deafness secondary to oseoosclerosis</li><li>Denatal imperfections</li><li>Bone deformities like bowed legs and scoliosis</li><li>Ligament laxity leading to joint hypermobility</li></ul>
Describe the management of osteogenesis imperfecta
<ul><li>Orthopaedic interventions: treat fractures and bone deformities</li><li>Medical management: bisphosphoonates to increase bone density</li><li>Physio, dental care, hearing aids, education and counselling</li></ul>
Describe the epidemiology of rickets
<ul><li>Most common cause: vitamin D deficiency for a long time</li><li>Can be caused by: poor nutrition, insufficiency sun exposure and malapbsorption syndormes</li></ul>
Describe the features of rickets
<ul><li>Aching bones and joints</li><li>Lower limb abnormalities(genu varum-bow legs, genu valgum-knock knees)</li><li>Rickety rosary: swelling at costochondral junction</li><li>Kyphoscoliosis</li><li>Craniobates(soft skull bones in early life)</li><li>Harrison's sulcus</li><li><img></img><br></br></li></ul>
Describe the mangement of rickets
<ul><li>Oral vitamin D: 400IU/dayfor chidlren and young people, 6000IU for 8-12 weeks in children <12 years</li><li>Calcium and phosphorus supplements may be adivsed</li><li>Prevention: breastfeeding babies have formula fortified with vitamin D, breastfeeding woman and children should all take vitamin D supplement</li></ul>
Describe the epidemiology of transient synovitis?
<ul><li>3-11 years</li><li>2x as common in males</li></ul>
Describe the aetiology of transient synovitis
<ul><li>After URTI 1-2 weeks prior</li></ul>
Describe the presentation of a patient with transient synovitis
<ul><li>Acute onset of limp, often with an avoidance of weight bearing</li><li>Pain in hip or referred knee pain</li><li>Mild to absent fever</li></ul>
Describe the management of transient synovitis
<ul><li>Self-limiting, requiring only rest and analgesia</li><li>Typically significant improvement within 24-48 hours</li><li>Fully resolve within 1-2 weeks</li></ul>
<div>If fever/no improvement, immediate A&E</div>
<div>Should be followed up at 48 hours and 1 week to check for improvement</div>
Describe the presentation of osteomyelitis
<ul><li>Fever</li><li>Pain at rest, worse when weight bearing</li><li>Swelling</li><li>Erythema of the affected site</li><li>If chronic: can have hisotry of pain, soft tissue damage etc</li></ul>
Describe the management of osteomyelitis
<ul><li>6 weeks flucloxacillin</li><li>Clindnamycin for pencillin allergy</li><li>Vancomycin if MRSA</li><li>Surgical debriedement may be needed</li></ul>
Describe the symptoms of septic arthritis
<ul><li>Acute onset of tender swollen joint</li><li>Reduced range of movement</li><li>Systemic symptoms: fever, malaise, chills</li></ul>
Describe the management of septic arthritis
<ul><li>Epirical IV abx for 4-6 weeks total as IV first then oral</li><li>Flucloxacillin 1st line</li><li>Clindamycin if penicillin allergy</li><li>Vancomycin if MRSA</li></ul>
Describe the epidemiology of Perthes’ disease
<ul><li>Predominantly males</li><li>Aged 4-8 years</li></ul>
Describe the aetiology of Perthes’ disease
<ul><li>Multifactorial: genetics, trauma and other environemntal factors</li><li>Disruption in blood supply to the femoral head-> avascular necrosis</li><li>Disruption can be due to clot formation, increased pressure within the bone or damage ot the vessels</li></ul>
Describe the presentation of a patient with Perthes’ disease
<ul><li>Gradual onset of limp</li><li>Hip pain, which may be referred to the knee</li><li>No history of trauma(SUFE)</li><li>Persists for >4 weeks</li><li>Resitricted hip movements</li></ul>
Describe the diagnosis of Perthes’ disease
<ul><li>x-ray: -can be normal, may show sclerosis and fragmentation of epiphysis</li><li>Blood tests normal</li><li>MRI and tehnetium bone scan may be done</li></ul>
Describe the management of Perthes’ disease
<ul><li>Depends on extent of necrosis:</li><li><50% of femoral head involved: conservative(bed rest, non-weight bearing and traction)</li><li>>50%: plaster cast to keep hip abducted or even osteotomy</li></ul>
<div>If <6yrs: observation</div>
<div>Analgesia</div>
Describe the prognosis of Perthes’ disease
<ul><li>Most resolve with conservative management</li></ul>
Describe the Catterall staging for Perthes’ disease
<ol><li>Clinical and histological features only</li><li>Sclerosis with/without cystic changes and preservatoin of the articular surface</li><li>Loss of structura integrity of the femoral head</li><li>Loss of acetabular integrity</li></ol>
Describe the epidemiology of Slipped Upper Femoral Epiphysis
<ul><li>Increasing with growing rates of childhood obesity</li></ul>
Describe the presentation of a patient with slipped upper femoral epiphysis
<ul><li>Typicallly adolescent, obese male going through a growth spurt</li><li>May be a history of minor trauma</li><li>Hip groin, thigh or knee pain</li><li>Restricted range of movement in hip: restricted internal rotation in flexion</li><li>Painful limp</li><li>Can be bilateral in 10-20% of cases</li><li>Trendelenburg gait</li></ul>
Describe the management of slipped upper femoral epiphysis
<ul><li>Surgical: internal fixation-cannulated screw </li><li>Prompt treatment important to prevent avascular necrosis of the femoral head</li></ul>
Describe the epidemiology of osgood schlatter disease
<ul><li>Adolescents ages 10-15</li><li>M>F</li><li>Hihger prevalence in athletes and sports such as gymnastics and basketball</li></ul>
Describe the aetiology of osgood schlatter disease
<ul><li>Mechanical stress due to repetitive traciton on tibial tubercle from patellar tendon during rapid growth periods in adolescence</li><li>Other contributing factors: tight quadriceps muscle and poor flexibility</li><li><img></img><br></br></li></ul>
Describe the presentation of a patient with osgood schlatter disease
<ul><li>Anterior knee pain, often localised to tibial tubercle</li><li>Pain exacerbated by running, jumping, kneeling relieved by rest</li></ul>
Describe the prognosis of osgood schlatter
<ul><li>Resolves over time</li><li>Patient often left with a bony lump on their knee</li><li>Rarely avulsion fracture</li></ul>
Aside from positive Barlow and ortolani tests what should be checked on examination of a patient with developmental dysplasia of the hip?
<ul><li>Leg length symmetry</li><li>Level of knees when hips and knees are bilaterally felxed</li><li>Restricted abduction of the hip in flexion </li></ul>
Describe the management of developmental dysplasia of the hips
<ul><li>Can self-resolve in 3-6 weeks</li><li>Pavlik harness: keeps hips in flexed and abducted position</li><li>If severe: surgical intervention</li></ul>
Describe the epidemiology of juvenile idiopathic arthritis
<ul><li>Most common cause of chronic joint pain in children</li></ul>
Describe the features of Still’s diseasd (systemic juvenile idiopathic arthritis0
<ul><li>Slamon pink rash</li><li>Fevers</li><li>Lymphadenopathy</li><li>Weight loss</li><li>Joint pain and inflammation-swelling, stiffness, llimited ROM</li><li>Splenomegaly</li><li>Muscle pain</li><li>Pleuritis/pericarditis</li></ul>
Describe the presentation of a patient with polyarticular JIA
<ul><li>Symmetrical inflammatory arthritis in >=5 joints</li><li>Can affect small joints of hands and feet as well as large joints like hips and knees</li><li>Minimal systemic symptoms: may have mild fever, anaemia and reduced growth</li></ul>
Describe the epidemiology of oligoarticular JIA
<ul><li>Girls <6 yrs most commonly</li></ul>
Describe the presentation of a patient with oligoarticular JIA
<ul><li>Monoarthritis-pain, stiffness, swelling etc</li><li>Anterior uveitis-> refer to ophthalmology</li><li>Usually no systemic symptoms</li></ul>
Describe the presentation of enthesitis related JIA
<ul><li>Enthesitis</li><li>Anterior uveitis-> refer to opthalmology</li><li>Check for symptoms of psoriatic arthritis</li><li>IBD symptoms</li></ul>
Describe the signs and symptoms of juvenile psoriatic arthritis
<ul><li>Psoriatic arthrtiis</li><li>Nail pitting</li><li>Onycholysis</li><li>Dactylitis</li><li>Enthesitis</li></ul>
Describe the management of juvenile idiopathic arthritis
<ul><li>Paediatric rheumatology with specialist MDT</li><li>NSAIDS: e.g. ibuprofen</li><li>Steroids: oral, IM or intra-articular in oligoarthritis</li><li>DMARDS: methotrexate, sulfasalazine, leflunomide</li><li>Biologics: TNF inhibitors: etenercept, infliximab, adalimumab</li></ul>
Describe the aetiology of torticollis
<ul><li>Unclear</li><li>Often thought to be related to posture or hevay carrying loads</li></ul>
Describe the management of torticollis
<ul><li>Reassurance: self resolve within 24-48 hours</li><li>Simple anaglesics</li><li>Physio</li><li>Intermittent heat or cold packs to reduce pain and spasms, sleep on firm pillow and maintain good posture</li><li>Advice against cervical collar</li></ul>
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Describe the epidemiology of adolescent idiopathic scoliosis
<ul><li>10-18 years</li></ul>
Describe the signs and symptoms of a patient with scoliosis
<ul><li>Postural asymmetry</li><li>Absent or minimal pain</li><li>No neurological symptoms</li><li>Paraspinal prominences on forward bending</li><li>Shoulder asymmetry</li><li>Waist line asymmetry</li></ul>
Describe the management of scoliosis
<div>Determined by Cobb angle</div>
<div><ul><li><10 degrees: regular exercise</li><li>11-20 degrees: observational monitoring and regular exercise</li><li>21-45 degrees: bracing and regular exercise</li><li>>45 degrees: surgical spine arthrodesis and regular exercise</li></ul></div>
Describe the aetiology of discoid meniscus
<div><ul><li>Developmental anomaly before birth</li><li><br></br></li></ul></div>
Describe the presentation of a patient with a discoid meniscus
<ul><li>Visible or audible palpable snap on terminal extension(10-20 degrees) along with pain or swelling and locking</li><li>Click during movement</li></ul>
Describe the management of discoid meniscus
<ul><li>Physio</li><li>If severe: arthroscopic partial meniscectomy</li></ul>
Describe the pathophysiology of leukaemia
<ul><li>Genetic mutation in one of the precursor cells in the bone marrow leads to excessive production of a single type of abnormal white blood cell</li><li>Excessive rpoduction can suppress other cell lines-> pancytopenia</li><li>Pancytopenia: Anemia, leukopenia, thrombocytopenia</li></ul>
Describe the presentation of a patient with leukaemia
<ul><li>Anaemia</li><li>Neutropenia: high WCC but low neutrophil levels</li><li>Frequent infections</li><li>Thrombocytopenia resulting in bleeding</li><li>Hepatosplenomegaly</li><li>Bone pain</li><li>May have DIC or thrombocytopenia-petechiae</li><li><br></br></li></ul>
Descire the management of tumour lysis syndrome
Good hydration and urine output before chemo<br></br>Allopurinol or rasburicase to suppress uric acid levels
Describe the management of CML
<ul><li>Tyrosine kinase inhibitors(associated with BCR-ABL defect): imatinib </li><li>Hydroxyurea</li><li>Interferon alpha</li><li>Allogenic bone marrow transplant</li></ul>
Describe the management of ALL
<ul><li>Combinatino chemo</li><li>CNS prophylactic agens</li><li>Maintainence therapy</li></ul>
Describe the ppresentation of a patient with CLL
<ul><li>Often asymptomatic-incidental lymphocytosis </li><li>Infections, bleeding, weight loss, anaemia-warm autoimmune haemolytic anaemia</li><li>Non tender symmetrical lymphadenopathy</li></ul>
Describe the prognosis of CLLL
Variable<br></br><ul><li>1/3 don’t progress</li><li>1/3 progress slowly</li><li>1/3 progress actively</li></ul>
Describe the epidemiology of paediatric brain tumours
<ul><li>Leading cause of cancer related deaths in children</li><li>Most common solid organ malignancy in paediatric population</li></ul>
Describe the presentation of a child with a brain tumour
<ul><li>Persisten headaches which are worse in the morning</li><li>Signs of raised ICP: nausea, vomiting and reduced consciousness</li><li>Aeizure in an older child with no fever and no hisotry of seizures</li><li>Focal neurological deficits</li></ul>
Describe the presentation of a patient with a neurblastoma
<ul><li>Abdominal mass</li><li>Pallor, weight loss</li><li>Bone pain, limp</li><li>Hepatomegaly</li><li>Paraplegia</li><li>Proptosis</li></ul>
Describe the epidemiology of pyloric stenosis
<ul><li>1-3/1000 live births</li><li>6-8 weeks</li><li>M>F</li><li>First-borns most commonly</li></ul>
Describe the aetiology of pyloric stenosis
<ul><li>Genetics</li><li>Prematurity</li></ul>
Describe the presentation of a patient with pyloric stenosis
<ul><li>Postprandial vomiting: non bile stained, projectile, worsens after feeds</li><li>Palpable mass: hypertrophied pyloric sphincter palpable as smooth olive sized mass in RUQ/mid epigastric</li><li>May have constipation and dehydration</li></ul>
Describe the management of pyloric stenosis
<ul><li>Supportive:nil by mouth and IV fluids</li><li>Surgical: Ramstedt pyloromyotomy(cuts hypertrophic sphincter and widens gastric outlet)</li></ul>
Describe the epidemiology of mesenteric adenitis
<ul><li>More prevalent in children and adolescents</li><li>Linkw ith viral pathogens-follows rep URTI</li></ul>
Describe the aetiology of mesenteric adenitis
<ul><li>Viral: EBV, adeno, entero</li><li>Bacteria: Yersinia, camylobacter</li><li>Other: mycobacterium, salmonella, strep</li></ul>
Describe the presentation of a patient with mesenteric adenitis
<ul><li>Diffuse abdominal pain: often mistaken for appendicitis</li><li>Low grade fever</li><li>Generalized abdominal tenderness</li><li>Pharyngitis.sore throat</li><li>Children: usually good overall health and unaltered appetitie</li></ul>
Describe the presentation of a patient with i<span>ntussusception</span>
<ul><li>Paroxysmal, severe colicky pain, often causing the child to draw up his legs</li><li>Lethargy and decreased activity between pain episodes</li><li>Refusal of feeds</li><li>Vomiting: may be bile stained depending on location of intussusception</li><li>'red current jelly' stool-> blood stained mucus</li><li>Abdominal distention</li><li>Palpation: sausage shaped mass in RUQ</li></ul>
Describe the management of i<span>ntussusception</span>
<div><ol><li>If stable: rectal air insufflation or contrast enema</li><li>Surgery</li></ol></div>
Describe the epidemiology of intestinal malrotation
<ul><li>Consdered rare-critical</li><li>Symptomatic malrotation most commonly presents in neonates</li></ul>
Describe the aetiology of intestinal malrotation
<ul><li>Ariuses due to abnormal rotation and fixation of the mdigut during embryonic development</li><li>Usually happens during 4th-12th weeks gestation</li><li>Genetics may play a role</li></ul>
Describe the features of GORD in children
<ul><li>Typically before 8 weeks</li><li>Vomiting regurgitation (milky vomits after feeds, can occur after being laid flat)</li><li>Distress, crying or unsettled after feeding</li><li>Poor weight gain</li><li>Vomiting</li><li>Reluctance to feed</li><li>Chronic cough</li></ul>
Describe the management of GORD in children
Lifestyle:<br></br><ul><li>Position during fees: head at 30 degrees</li><li>Sleep on backs to reduce risk of cot death</li><li>Ensure not overfed</li></ul><div>Dietary:</div><div><ul><li>Thickened feed(containig rice starch, cornstarch etc)</li><li>Alginate therapy(Gavison mixed with feeds)-NOT for use at same time as thickened feed</li><li>PPI(e.g. omeprazole) only in certain situations</li></ul></div>
Describe the epidemiology of appendicitis in children
<ul><li>Uncommon under 3 years</li><li>One of the most common acute surgical problems in children</li><li>Commonin populations with a western diet</li></ul>
Describe the aetiology of appendicitis
<ul><li>Obstruciton within appendix</li><li>Can be fibrous tissue, foreign body, hardened stool</li><li>Subsequent bacterial ,multiplication and infiltration can lead to tissue damage, pressure induced necrosis, perforation</li><li>Gangrene: thrombosis ni appendix's arterial supply, specifically ileocolic artery</li></ul>
Describe the symptoms of a patient with appendicitis
<ul><li>Central abdominal pain radiating to the right iliac fossa</li><li>LLow grade pyrexia</li><li>Minimal vomiting, nausea</li></ul>
Describe the management of a patient with appendicitis
<ul><li>Prophylactic antibiotics: full sepsis 6 if appropriate</li><li>Laparoscopic appendicectomy</li><li>If evidence of perforation: open with lavage in theatre</li><li>If negative imaging: IV fluids and abx </li></ul>
Describe the epidemiology of biliary atresia
<ul><li>F>M</li><li>Neonates only: perinatal(1-2 weeks of life) or postnatal(208 weeks)</li></ul>
Describe the pathophysiology of biliary atresia
<ul><li>Either obliteration or discontinuity within the extrahepatic biliary system resulting in obstruction of bile flow</li><li>Results in neonatal presentation of cholestasis </li></ul>
Describe the presentation of a patient with biliary atresia
<ul><li>First 2 weeks of life</li><li>Jaundice beyond physiological 2 weeks</li><li>Dark urine and pale stools</li><li>FTT</li></ul>
Describe the management of biliary atresia
<ul><li>SSurgical: Kasai procedure-hepatoportenterostomy</li><li>Post surgery: abx and bile acid enhancers</li></ul>
Describe the prognosis of biliary atresia
<ul><li>Good if surgery</li><li>Liver transplant in 1st 2 years of life if failure</li></ul>
Describe the epidemiology of febrile convulsions
<ul><li>Common: 3% of children</li><li>Children 6 months and 5 yrs</li></ul>
Describe the aetiology of febrile convulsions
<ul><li>Abrupt rise in body temperature often related oto an indection </li><li>Can be triggered by bacterial and viral infections</li><li>Mc: URTI, ear infections and childhood exanthems</li></ul>
Describe the symptoms of a febrile convulsion
<ul><li>High fever: >38 degrees</li><li>Tonic-clonic , LOC</li><li>Post ictal drowsiness/confusion</li></ul>
Define constipation in children
<ul><li><= 3 stools/week or significant difficulty in passing stools</li></ul>
At what age is encopresis considered pathological?
<ul><li>>4 years</li></ul>
Describe the management of constipation in children
<ul><li>Correct reversible causes: increase fibre and hydration</li><li>Laxatives(movicol first line)</li><li>Faecal impaction with disimpaction regimen</li><li>Encourage and praise visiting toilet</li><li>Laxatives used short term then weaned off</li></ul>
Describe the epidemiology of cerebral palsy
<ul><li>Mc cause of major motor impairment</li><li>Higher in areas with worse ante/perinatal care</li><li>Higher in premature infants and those of multiple pregnancies</li></ul>
Describe the features of spastic cerebral palsy
<ul><li>Increased tone and reflexes(flexed hip and elbow, 'clasp-knife' spasticity</li><li>'Scissor' gait</li><li>Can be monoplegic, diplegic or hemiplegic</li></ul>
Describe the features of dyskinetic cerebral palsy
<ul><li>Athetoid movements and oro-motor problems</li><li>Can exhibit signs of parkinsonism</li></ul>
Describe the features of ataxic cerebral palsy
<ul><li>Typical cerebellar signs</li><li>Uncoordinated movements</li></ul>
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Describe the management of cerebral palsy
<ul><li>MDT approach-physio, OT, SALT, dieticians</li><li>Oral diazepam</li><li>Oral baclofen-muscle spasms</li><li>Botulinum toxin type A-contractures</li><li>Surgery</li><li>Orthopaedic surgery</li><li>General surgery e.g. for PEG fitting</li></ul>
Describe the prognosis of cerebral palsy
<ul><li>Varibale impact on QOL-difficulties with mobility and communication</li><li>Associated with reduced life expectancy</li></ul>
Describe the epidemiology of haemolytic disease of the newborn
<ul><li>Rare but serious</li><li>Most common in pregnancy where there is blood group incompatibility beetween the mother and fetus</li></ul>
Describe the aetiology of haemolytic disease of the newborn
<ul><li>Immune response following rhesus or ABO blood group incompatibility between mtoehr and fetus</li><li>Sensitisation events include: antepartum haemorrhage, placental abruption, ECV, miscarriage/termination, ectopic pregnancy, delivery</li></ul>
Describe the features of haemolytic disease of the newborn
<ul><li>Hydrops fetalis appearing as fetal oedema in at least 2 compartments, seen on antenatal USS</li><li>Yellow coloured amniotic fluid due to excess bilirubin</li><li>Neonatal jaundice and kernicterus</li><li>Fetal anaemia causing skin pallorr</li><li>Hepato/spleno-megaly</li><li>Severe oedema if hydrops fetalis whilst in utero</li></ul>
Describe the features of a cephalohaematome
<ul><li>Commonly affects parietal region</li><li>Doesn't cross suture lines</li><li>May take up to 3 months to resolve-managed conservatively</li></ul>
Describe the features of caput seccedaneum
<ul><li>Soft, puffy swelling due to localised oedema</li><li>Crossess suture lines</li><li>Resolves within days-no tx needed</li></ul>
Describe the interpretation of the APGAR score
<ul><li>0-3: very low</li><li>4-6: moderate low</li><li>7-10: good health</li></ul>
Describe the key points of paediatric BLS
<ul><li>Unresponsie-> shout for help</li><li>Open airway</li><li>Look, listen, feel for breathing</li><li>5 rescue breaths</li><li>Check for signs of circulation</li><li>15 chest compressions: 2 rescue breaths</li></ul>
Describe the pathophysiology of acute respiratory distress syndrome
<ul><li>Acute form of resp failure occuring within 1 week of trigger</li><li>Diffuse bilateral alveolar injury with endothelial disruption and leakage of fluid into alveoli from pulmonary capillaries</li><li>Decrease in surfactant production but different to neonatal respiratory distress syndrome</li></ul>
Describe the clinical features of acute respiratory distress syndrome
<ul><li>Acute onset and severe, critically unwell within identifiable trigger like illness or trauma</li><li>Severe dyspnoea</li><li>Tachypnoea</li><li>Confusion and presyncope secondary to hypoxia</li><li>Diffuse bilateral crepitations on ausculation</li></ul>
Describe the management of acute respiratory distress syndrome
<ul><li>Generally ITU</li><li>Intubation/ventilation to treat hypoxaemia</li><li>Hameodynamic support: aim for MAP>60mmHG, tvasopressors, transfusions if Hb<70</li><li>Enteral nutrition support</li><li>DVT prophylaxis</li><li>Treat underlying cause</li><li>PPI to prevent gastric ulcers</li></ul>
Describe the epidemiology of neonatal respiratory distress syndrome
<ul><li>Premature infants</li></ul>
Describe the symptoms of neonatal respiratory distress syndrome
<ul><li>Within minutes of birth</li><li>Rapid, laboured breathing</li><li>Flaring nostrils</li><li>Gruntig sounds during exhalation</li><li>Indrawing of chest wall</li><li>Cyanosis</li><li>May progress to apnoea and hypoxia due ot fatigue</li></ul>
Describe the management of neonatal respiratory distress syndrome
<ul><li>Intratracheal instillation of artificial surfactant</li><li>Supplemental oxygen/respiratory support: CPAP or mechanical ventilation</li><li>Caffeine</li><li>Supportive care: maintain body temperature, nutrition, amange other complications</li></ul>
Describe the causes of late onset neonatal sepsis
<ul><li>S epidermis</li><li>S. aureus</li><li>P.aeruginosa</li><li>Klebsiella</li><li>Enterobacter</li><li>Pseudomonas</li><li>E.Coli</li></ul>
Describe the management of neonatal sepsis
<ul><li>IV benzylpenicillin and gentamicin(monitor levels)</li><li>Re-measure CRP 18-24 hours after presentation in patients given abx</li><li>Maintain adequate oxygenation, fluid, glucose levels, metabolic acidosis</li></ul>
Describe the aetiology of transient tachypnoea of the newborn
<ul><li>C-ssection-> passage through birth canal applies external pressure on thorax, aiding in expelling the birth. </li><li>Suboptimal epithelial clearance mechanisms</li></ul>
Describe the presentaiton of transient tachypnoea of the newborn
Resp distress:<br></br><ul><li>Tachypnoea(>60bpm)</li><li>Increased work of breathing</li><li>Potential desaturation/cyanosis</li></ul>
Describe the management of transient tachypnoea of the newborn
<ul><li>usually self-resolving within 3 days of life</li><li>Oxygen to manage hypoxaemia</li><li>Monitor for progression to penumonia or NRDS</li></ul>
Describe the aetiology of meconium aspiration syndrome
<ul><li>Fetal distress/hypoxia-> intestinal relaxation+anal sphincter relaxation</li></ul>
Describe the signs and symptoms of meconium aspiration syndrome
<ul><li>Presence of meconium-stained liquor during rupture of membranes or at birth(yellow/green apppearance of amniotic fluid)</li><li>Green staining of infant's skin, nail beds or umbilical cord</li><li>Respiratory distress: tachypnoea, grunting, noisy breathing, cyanosis</li><li>Crackles on auscultation </li><li>Limp infant/low APGAR scores</li><li>Barrel shaped chest</li></ul>
Describe the management of meconium aspiration syndrome
<ul><li>Gentle suctioning of mouth/nose to remove any visible residual meconium</li><li>Abx to reduce infection</li><li>Transfer baby to ICU if eeded for careful monitoring and oxygen administration</li><li>If severe: artificial ventilation might be needed</li></ul>
Describe the clinical features of neonatal hypoglyacaemia
<ul><li>Asx</li><li>Autonomic: jitteriness, irritable, tachypnoea, pallor</li><li>Neuroglycopenic: poor feeding/sucking, weak cry, drowsy, hypotonia, seizures</li><li>Others: apnoea, hypothermia</li></ul>
Describe the management of asymptomatic neonatal hypoglycaemia
<ul><li>Encourage normal feeding(breast/bottle)</li><li>Monitor blood glucose</li></ul>
Describe the management of symptomatic/severe neonatal hypoglycaemia
<ul><li>Admit to neonatal uit</li><li>IV infusion of 10% dextrose</li></ul>
Describe the management of gastroshisis
<ul><li>Attempt vaginal delivery</li><li>Newborns to theatre as soon as possible after delivery(within 4 hours)-usually requires multiple surgeries to reposition organs back into abdominal cavity and close abdominal wall defect</li><li>Abx if infefction, IV fluids/nutrients</li></ul>
Describe the pathophysiology of gastroschisis
<ul><li>Week 4 of gestation: lateral folds fail t fuse-> hole in abdominal wall-> organs protrude</li></ul>
Describe the pathophysiology of exomphalos
<ul><li>Midgut herniates through umbilicus-> pulls layer of peritoneum into umbilical cord to properly develop due to insufficient space in adbominal cavity-><b>midgut doesn't return</b></li></ul>
Describe the management of exomphalos
<ul><li>C-section-> reduce risk of sac rupture</li><li>Staged surgical repair</li></ul>
Describe the pathophysiology of duodenal atresia
<ul><li>Failure in duodenal vacuolization</li><li>During fetal development duodenal epithelium proliferates rapidly-> complete duodenal obstruction-> apoptosis of excess cells-> formation of small vacuoles whcih fuse-> re-establish duodenal passageway</li></ul>
Describe the aetiologuy of oesophageal atresia and tracheo-oesophageal fistula
<div>Associated with:</div>
<div><ul><li>VACTER syndrome</li><li>CHARGE </li><li>Chromosomal abnormalities</li><li>DiGeorge syndorme</li><li>Neural tube defects</li></ul></div>
Describe the management of oesophageal atresia
<ul><li>Surgical: connect parts of oesophagus and close off fistula</li><li>Post op: monitor for complicaitons</li><li>Manage nutritional and respiratory support</li></ul>
Describe the epidemiology of necrotising enterocolitis
<ul><li>First 3 weeks of life in premature neonates</li><li>Fatal in 1/5, significant morbidity</li></ul>
Describe the signs and symptoms of necrotising enterocilitis
<ul><li>Vomiting(may be bile streaked)</li><li>Feed intolerance</li><li>Bloody, loose stools</li><li>Abdo distention</li><li>Absent bowel sounds</li><li>Systemic compromise-> acidodis on blood gas, resp distress</li></ul>
Describe the management of necrotising enterocilitis
<ul><li>Nil by mouth</li><li>NG tube for gastric decompression</li><li>Broad spectrum abs</li><li>Supprotive: IV fluids and ventilation</li><li>Surgical: resecitn of necrotic sections of bowell</li></ul>
Describe the pathophysiology of congenital diaphragmatic hernia
<ul><li>Usually a failure of the pleuroperitoneal cavity to close completely</li></ul>
Describe the presentation of congenital diaphragmatic hernia
<ul><li>Cyanosis soon after birth</li><li>Tachypnoea and tachycardia</li><li>Asymmetry of chest wall</li><li>Absent breath sounds on onse side-usually left with heart shifted to right</li><li><b>Bowel sounds audible over chest wall</b></li></ul>
Describe the management of congenital diaphragmatic hernia
<ul><li>Paeds emergency-> reduce pressure in chest</li><li>Resus in 'head up' position</li><li>Endotracheal intubation and careful fluid support</li><li>Avoid bag and mask-> stomach and intestines become distended with air nd impari lunmg funciton</li><li>Oro-gastric tube</li><li>Surfactant</li><li>Open surgical repair of diaphragm when stable</li></ul>
Describe the management of neonatal jaundice
<ul><li>Admit urgently if: <24 hours, >7days and unwell, premature</li><li>Might not need any treatment if well and liekly physiological</li><li>Increase fluid intake</li><li>Monitor bilirubin levels</li><li>Treat underlying cause</li><li>Phototherapy</li><li>Exchange transfusion</li></ul>
Describe the signs ans symptoms of neonatal jaundice
<ul><li>Yellowing of skin and eyes</li><li>Poor feeding</li><li>Lethargy</li><li>Severe: kernicterus</li><li>If due to hepatitis/biliary atresia: dark stools and pale urine</li></ul>
Describe the symptoms of toxoplasma gondii infeciton in pregnancy and neonates
<ul><li>Causes toxoplasmosis</li><li>Mother: Fever, fatigue</li><li>Fetus: chorioretinitis, hydrocephalus, rash, intracranial calcifications</li></ul>
Describe the symptoms of rubella in pregnancy and neonates
<ul><li>Mother: lymohadenopathy, polyarthritis, rashes</li><li>Fetus: congenital rubella syndrome: deafness, cataracts, rash, heart defects</li></ul>
Describe the symptoms of CMV infection in pregnancy and neonates
<ul><li>Mother: Mild sx</li><li>INfants: rashes, deafness, chorioretinitis, seizures, microcephaly, intracranial calcifications</li></ul>
Describe the symptoms of a HSV infection in neonates
<ul><li>Blisters and inflammation of the brain: meningoencephalitis</li></ul>
Describe the epidemiology of listeria
<ul><li>Found in many food products, especially unpasteurised dairy products and soft cheeses</li><li>Vertical transmission from mother to fetus through placenta or during delivery</li></ul>
Describe the signs and symptoms of listeriosis in neonates
<ul><li>Neonatal sepsis</li><li>Meningitis</li><li>Respiratory distress due to aspiration of infected amniotic fluid</li><li>Chorioamnionitis</li><li>Premature labour</li><li>Stillbirth</li></ul>
Describe the management of listeriosis
<ul><li>Abx: ampicillin + aminoglycoside(gentamicin)</li></ul>
Describe the epidemiology of cleft lip/palate
<ul><li>Mc congenital deformity affecting orofacial structures</li></ul>
Describe the pathophysiology of cleft lip/palate
<ul><li>Polygenic inheritance</li><li>Failure of frontal-nasal and maxillary processes to fuse: cleft lip</li><li>Failure of palatine processes and nasal septum to fuse: cleft palate</li></ul>
Describe the management of cleft lip/palate
<ul><li>Cleft lip repaired earlier than cleft palate: 1st week-3 months</li><li>Cleft palate: 6-12 months</li></ul>
Describe the local features of HSV in a neonate
<ul><li>Vesicular lesions on the skin</li><li>Eye involvement</li><li>Oral mucose involvement without internal organ involvement</li></ul>
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Describe the management of HSV in neonates and pregnancy
<ul><li>Neonates: Parenteral acyclovir and intensive supportive therapy</li><li>Elective C-section/intrapartum IV acyclovir if active primary herpes lesions on mother at term or outbreak within 6 weeks of labour</li></ul>
Describe the features of bronchopulmonary dysplasia
<ul><li>Low oxygen saturations</li><li>Increased work of breathing</li><li>Poor feading and weight gain</li><li>Crackles and wheeze in chest on auscultation</li><li>Increased susceptibility to infection</li></ul>
Describe the management of bronchopulmonary dysplasia
<ul><li>Typically leave neonatal unit on low dose O2 at home</li><li>Followed up after 1 yr to wean off</li><li>RSV protection-> monthyl injecitons of palivizumab for certain babies</li></ul>
Describe the clinical features of typical(petit mal) absence seizures
<ul><li>Onset: 4-8 years, often doesn't persist into adulthood</li><li>Duration few-30 secs, no warning, quick recovery, often lots in one day</li></ul>
Describe the clinical features of West syndrome/infantile spasms
<ul><li>4-8 months</li><li>Flexion of head, trunks, limb-> extension of arms(Salaam atack), lasts 1-2 secs, repeat up to 50 times</li><li>clusters-'jack-knife'spasms)</li><li>Progressive mental handicap-> associated with regression and high morbidity</li></ul>
Describe the prognosis of West’s syndrome
<ul><li>Poor prognosis-> intellectual disability</li><li>Many develop Lennox-Gastaut syndrome later one</li></ul>
Describe the clinical features of Dravet’s syndrome
<ul><li>Convulsive status epilepticus seizures during intercurrent illness or following vaccination</li><li>Refractory to antiepileptic treatment</li><li>Associated with loss of developmental milestones and ASD</li></ul>
Describe the prognosis of Dravet’s syndrome
<ul><li>Estimated 15% mortality by age 20yrs</li></ul>
Describe the features of Lennox Gastaut syndrome
<ul><li>May be an extension of infantile spasms</li><li>Onset 1-5 yrs</li><li>Tonic, atonic and atypical absence(last longer and have gradual onset) seizures</li><li>Idopathic: normal psychomotor developmnt</li><li>Symptomatic: associatede nuerological abnormalities</li></ul>
Describe the management of Lennox Gastaut syndrome
<ul><li>Ketogenic diet</li><li>Often refractory to AED's</li><li>Sodium valproate, lamotrigine, clobazam</li><li>Surgical: corpus callostomy and vagus nerve stimulation</li></ul>
Describe the features of juvenile myoclonic epilepsy
<ul><li>Onset in adolescent and early adulthood, more common in girls</li><li>Sudden shock like myoclonic seizures that progress into generalised tonic-clonic seizures</li><li>Also absence seizures</li><li>Often in morning/after sleep deprivation</li></ul>
Describe the management of juvenile myoclonic epilepsy
<ul><li>Usually good response to AED's: sodium valproate and lamotrigine</li></ul>
Describe the features of panayiotopoulos syndrome
<ul><li>Autonomic seizures with ictal vomiting, pupil dilation and syncope lasing up to 30 minutes</li><li>Vision changes: flasing lights, blurring, loss of vision</li><li>3-6yrs onset</li><li>Typicaly stop after 2-3 years, otherwise normal development</li></ul>
Describe the features of bening rolandic epilepsy
<ul><li>Mc in childhood, mc in males</li><li>3-10yrs</li><li>Paraesthesia(e.g.unilateral face) on waking up</li><li>Parents might notice tonic seizure overnight or find child on floor</li></ul>
Describe the general management of childhood epilepsy
<ul><li>If reversible, treat cause</li><li>AED's</li><li>Ketogenic/low glycaemic diet</li><li>Surgery if refractory/caused by tumours</li><li>MDT</li><li>Emergency seizure plans for home and school, educate parents</li></ul>
Describe the investigations/managment for developmental delay
<ul><li>Clinical and neuro exam</li><li>Genetics, metabolic screen, MRI/CT, hearing/vision assessments</li><li>Refer to specialist</li><li>Early intervention services: SALT, OT, Physio, educational support etc</li></ul>
At what age is it concerning for a child to not be sitting without support?
12 months
At what age is it concerning for a child to not be walking unsupported?
<ul><li>18 months</li></ul>
Describe fine motor and vision milestones with regards to brick buillding
<ul><li>15 months: tower of2</li><li>18 months: 3</li><li>2 years: 6</li><li>3 years:9</li></ul>
<div>Adds a brick every 3 months</div>
Describe fine motor and vision milestones with regards to drawing
<ul><li>18 months: circular scribble</li><li>2 years: vertical line</li><li>3 yrs: circle</li><li>4 yrs: cross</li><li>5 yrs: square and triangle</li></ul>
Describe the major soical behavious and play milestones
<ul><li>6 weeks: smile</li><li>3mths: laughs</li><li>6mths: not shy</li><li>9 mths: shy, takes everything to mouth</li></ul>
Describe the major social behaviour and play milestones with regards to feeding
<ul><li>6 months: hand on bottle</li><li>12-15 months: uses spoon, drinks form cup</li><li>2 yrs: doesnt spill with cup/spoon</li><li>3: spoon and fork</li><li>5: knife and fork</li></ul>
Describe the major social behaviour and play milestones with regards to dressing
<ul><li>12-15: helps getting dressed/undressed</li><li>18mths: takes off shoes</li><li>2 years: puts on hats and shoes</li><li>4 yrs: can dress and undress independently except for laces and buttons</li></ul>
Describe the major social behaviour and play milestones with regards to play
<ul><li>9mths: 'peek-a-boo'</li><li>12 mths: waves bye bye, plays pat a cake</li><li>18 mthd: plays alone</li><li>2 yrs: plays <b>near</b> others</li><li>4 yrs: plays <b>with</b> others</li></ul>
Describe the aetiology of retinoblastoma
<ul><li>Mutations in tumour suppressor gene RB1</li><li>Hereditary: germline mutations</li><li>Non-hereditary: somatic</li></ul>
Describe the signs and symptoms of retinoblastoma
<ul><li>Leukoria(white pupil when you shine a light)</li><li>Strabismus</li><li>Ocular inflammation and redness</li><li>Deteriorating vision</li><li>Failure to thrive</li><li>Eye enlargement: developing countries</li></ul>
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<div><img></img><br></br></div>
Describe the management of retinoblastoma
<ul><li>Systemic chemo 1st line</li><li>Enucleation(remove eye-extensive disease with threat of extraocular spread)</li><li>Orbital exenteration</li><li>Radio</li><li>Genetic counselling</li></ul>
Describe the epidemiology of neuroblastoma
<ul><li>Mc malignancy in children</li><li><5yrs</li><li><br></br></li></ul>
Describe the pathophysiology of neuroblastoma
<ul><li>Comprises neural crest cells-> differentiate to form the sympathetic chain and adrenal glands in lumbar areas.</li><li>Often starts in abdomen and spreads to bones, liver, skin(haematogenous and lymphatic spread)</li><li>Catecholamine secreting tumour</li></ul>
Describe the clinical features of neroblastoma
<ul><li>Mass effect of primary tumour: constipation, abdo distention</li><li>General: FTT, fatigue, malaise</li></ul>
<div>Sx of metastasis:</div>
<div><ul><li>Spine: numbness, weakness, loss of movement</li><li>Neck: breathlessness, Horner's</li><li>Bone: pain and swelling</li><li>Bone marrow: leukopenia(infections), thrombocytopenia(bleeding/bruising), anaemia(SOB, pallor)</li><li>Skin: small raised, blue/black discoloured lumps</li><li>Liver: hepatomegaly and abdominal pain</li></ul></div>
Describe the NICE referral pathway for suspected neuroblastoma
<ul><li>Very urgent referrla(<48 hours) in children with palpable abdominal mass or unexplained enlarged abdominal organ OR</li><li>Unexplained haematuria</li></ul>
Describe the management of neuroblastoma
<ul><li>Surgery followed by chemo</li><li>Radiation to primary site</li><li>Isotretinoin-> mainatinence therapy-promotes differentiation of neuroblastoma cells into normal cells</li></ul>
Describe the signs and sympotms of hepatoblastoma
<ul><li>Abdominal mass</li><li>Poor appetitie</li><li>Weight loss</li><li>Lethargy</li><li>Fever</li><li>Vomiting</li><li>Jaundice</li></ul>
Describe the management of hepatoblastoma
<ul><li>Chemo</li><li>Surgery</li></ul>
Describe the epidemiology of osteosarcoma
<ul><li>Mc primary malignany bone tumour in children and adolescents</li><li>Slight M:F predominance</li><li>Incidence peaks in adolesnces-growth spurts</li></ul>
Describe the signs and symptoms of osteosarcoma
<ul><li>Prolonged bone pain, often initially mistaken for growing pains/sports injuries</li><li>Bone swelling-usually in region of long bone metaphyses</li><li>Decreased ROM</li><li>Pathological fractures</li><li>Mc knee or proximal humerus</li><li>Systemic sx</li></ul>
Describe the management of osteosarcoma
<ul><li>Surgical resection and limb salvage surgery</li><li>Radiotherapy</li><li>Chemo: multi-agent: methotrexate</li><li>Follow up imagina</li></ul>
Describe the epidemiology of Ewing’s sarcoma
<ul><li>2nd most prevalent bone cancer in children and adolescents</li></ul>
Describe the signs and symptoms of Ewing’s sarcoma
<ul><li>Nocturnal bone pain</li><li>Palpable mass/swelling</li><li>Restricted joint mobility</li><li>Systemic: fever, weigh tloss, fatigue</li></ul>
Describe the management of Ewing’s sarcoma
<ul><li>Chemo 1st line</li><li>Surgery</li><li>Radiotherpay</li></ul>
Describe the epidemiology of Hodgkin’s lymphoma
<ul><li> Bimodial distribution: mc in 3rd and 7th decades</li></ul>
Describe the features of Hodgkin’s lymphoma
<ul><li>Non-tender lymphadenopathy, asymmetrical</li><li>May be paingul after drinking-characteristic</li><li>B symptoms + pruritus</li><li>Hepato/splenomegaly</li></ul>
Describe the lugano classification for Hodgkin’s lymphoma
<ul><li>Stage 1: single lymohatic site</li><li>Stage 2: >=2 lymph nodes on same side as diaphragm</li><li>Satge 3: Involvement on both sides of diaphragm OR above diaphragm with splenic involvement</li><li>Stage 4: Disseminated with >=1 extra lymphatic organs etc</li></ul>
<div>A: asx</div>
<div>B: B sx</div>
<div>S: Splenic involvement</div>
<div>E: extranodal contiguous extension</div>
Describe the management of Hodgkin’s lymphoma
<ul><li>Chemoradiotherapy</li></ul>
Describe the features of a medulloblastoma including sx
<ul><li>Mc malignant brain turmour in children</li><li>Typically arises in cerebellum</li><li>Sx: headaches, vomiting, ataxia and cranial nerve deficits</li></ul>
Describe the features of a pilocytic astrocytoma including sx
<ul><li>Mc benign brain tumour in children</li><li>Often in cerebellum or optic pathway</li><li>Sx: ehadaches, nausea, visual disturbances and balance issues</li></ul>
Describe the features of a ependymoma including sx
<ul><li>Arises from ependymal cells lining the ventricles or central canal of the spinal cord</li><li>Common locations: posterior fossa, spinal cord</li><li>Sx: hydrocephalus, headache, nausea, balance issues</li></ul>
Describe the features of a craniopharyngioma including sx
<ul><li>Benign tumour near the pituitary gland and hypothalamus</li><li>Sx: endocrine dysfunction, vision problems, growth delays</li></ul>
Describe the management of paediatric brain tumours
<ul><li>MDT </li><li>Steroids-> reduce intracranial swelling</li><li>Anticonvulsants</li><li>Chemo, radiotherapy</li><li>Surgical intervention-> including ventriculoperitoneal shunts or drains to treat hydrocephalus</li></ul>
Describe the prognosis of paediatric brain tumours
<ul><li>Good for CNS tumours, pilocytic astrocytomas and craniopharyngiomas</li><li>Poorer prognosis with gliomas</li></ul>
Describe the aetiology of von Willebrand’s disease
<ul><li>Usually genetic mutation that results in a deficiency/dysfunction of VWF-usually autosomal dominant inheritance</li></ul>
Describe the signs and symptoms of von Willebrand’s disease
<ul><li>Excess/prolonged bleeding from minor wounds/post-op</li><li>Easy bruising</li><li>Menorrhagia</li><li>Epistaxis</li><li>GI bleeding</li></ul>
Describe the management of von Willebrand’s disease
<ul><li>Desmopressin: temporarily increases F8 and VWF levels by releasing endoethlial stores</li><li>TXA for minor bleeding</li><li>VWF-F8 concentrates if above unsuccessful and bleeding persistent</li></ul>
Describe the epidemiology of thalassaemia
<ul><li>Believed to give some protection against malaria-> found in mediterranean europe, central africe, middle ease, india and southeast asia</li></ul>
Describe the inheritance of alpha thalassaemia
<ul><li>Autosomal recessive</li></ul>
Describe the pathophysiology of alpha thalassaemia
<ul><li>non functioning copies of the 4 alpha globin genes on chromosome 16</li><li>Symptomatic when >=2 copies of gene are lost</li></ul>
Describe the features of alpha thalassaemia if 1 or 2 alpha globulin alleles are affected
<ul><li>Alpha thalassaemia trait-mild asx anaemia</li><li>Bloods: hypochromic + microcytic but Hb usually normal</li></ul>
Describe the features of alpha thalassaemia if 3 alpha globulin alleles are affected
<ul><li>Symptomatic haemoglobin H disease</li><li>Hypochromic microcytic anaemia with splenomegaly</li><li>Normal survival</li></ul>
Describe the features of alpha thalassaemia if all 4 alpha globulin alleles are affected
<ul><li>Incompatible with life</li><li>Lack of alpha globin-> excess gamma chains-> Hb Barts</li><li>Hydrops fetalis</li></ul>
Describe the signs and symptoms of alpha thalassaemia
<ul><li>Jaundice</li><li>Fatigue</li><li>Facial bone deformities</li></ul>
Describe the management of alpha thalassaemia
<ul><li>Blood transfusions</li><li>Stem cell transplant</li><li>Splenectomy may be used especially in Hb H</li></ul>
Describe the pathophysiology of beta thalassaemia
<ul><li>Non-funcitoning copies of the 2 beta globin genes-chromosome 11</li><li>Beta thalassaemia minor(trait)-> one functional and one dysfunctional</li><li>Beta thalassaemia major: complete absence of beta globin synthesis</li></ul>
Describe the signs and symptoms of beta thalassaemia major
<ul><li>Presents in 1st yr of life with FTT and hepatosplenomegaly</li><li>Severe symptomatic anaemia</li><li>Maxillary overgrowth and prominent parieta/frontal bones-> chipmunk face</li><li>Frontal bossing-> 'hair on end' appearance on skull x ray</li></ul>
Describe the management of beta thalassaemia major
<ul><li>Regular blood transfusions-> iron overload</li><li>Hydroxycrbamide-> boost HbF levels</li><li>Bone marrow transplant-> potentially curative but risks</li><li>Iron chelation for iron overload(desferrioxamine, deferiprone)</li></ul>
Describe the symptoms of beta thalassaemia minor
<ul><li>Usually mild asymptomatic anaemia</li></ul>
Describe the epidemiology of sickle cell disease
<ul><li>Mc in people of Afrian descent-portection against malaria</li></ul>
Describe the pathophysiology of sickle cell disease
<ul><li>HbAS instead of normal HbAA</li><li>Abnormal beta globin chain polymerises when deoxygenated-> erythrocyte forms a sickle shape. Makes them susceptible to aggregation and haemolysis-> obstructed blood flow-> vaso-occlusive crisis-> damage to major organs and susceptibility to infections</li></ul>
Describe the aetiology of sickle cell
Autosomal recessive inheritance<br></br><ul><li>Homozygous: mc and most severe: HbSS</li><li>Can have one normal and one abnormal</li><li>Can inherit one copy of HbS and other gene for normal HbA-> sickle cell trait</li><li><br></br></li></ul>
Describe the signs and symptoms of sickle cell
<ul><li>Vaso-occlusive crisis: severe pain due to tissue ischaemia</li><li>Dactylitis common presentatino in infants <6 months</li><li>Anaemia: increased haemolysis of sickle cells</li><li>Jaundice-> consequence of haemolysis</li><li>Acute chest syndrome: lung infarction or infection</li></ul>
Describe the management of an acute sickle cell crisis
<ul><li>Pain relief: IV opiates for vaso-occlusive crisis</li><li>O2 supplementation as required</li><li>IV fluids: improve blood flow</li><li>Top-up transfusions: severe crisis/aplastic crisis</li><li>Abx if sign of infection</li></ul>
Descirbe the long-term management of sickle cell anaemia
<ul><li>Hydroxycarbamidee-reduce frequency of crises</li><li>Regular transfusions, folic acid supplements, iron chelation therapy</li><li>Prophylactic abx (oral penicillin)</li><li>Immunisations: flu and pneumococcal</li><li>Genetic counselling</li><li>Stem cell transplants</li><li>Regular transcranial doppler ultrasonography: children 2-16 years</li><li>Crizanlizumab: monoclonal antibody: >16yrs</li></ul>
Describe the signs and symptoms of fanconi anaemia
<ul><li>Cytopenias-> increased bruising/bleeding/infections</li><li>Symptomatic anaemia-> mpaired oxygen-carrying capacity, aplastic anaemia</li><li>Physical abnormalitis: short stature, VACTERL-H malformations</li><li>Cafe-au lait spots</li><li>Increased risk of acute myeloid leukaeemia</li></ul>
Describe the signs and symptoms of haemophilia
<ul><li>Usually early in life with spontaenous deep+severe bleeding into soft tissues, joints and muscles-previously joint damage resulting in deforming arthropathy(<b>haemoarthroses and haematomas</b>)</li><li>Excessive bleeding post surgery/trauma</li><li>Cerebral haemorrhage-> not as common anymore</li></ul>
Describe the management of haemophilia
<ul><li>Desmopressin if minor</li><li>Recombinant factor 8/9 if major bleed</li><li>If severe: regular prophylactic recombinant clotting factor tx, physio and patient education-> prevention of joint arthropathy</li><li>Gene therapy</li><li>Vaccination for Hep B, dental advice etc</li><li>Antifibrinolytics: TXA forbut avoid in muscle haematomas/haemarthrosis</li></ul>
Describe the pathophysiology of ITP?
<ul><li>Spleen produces antibodies directed against the glycoprotein 2b/3a or Ib-5-9 complex</li></ul>
Describe the aetiology of ITP
<ul><li>Often triggered by a viral infection or immunisation</li><li>Can be secondary due to:</li><li>AI conditions(E.g SLE)</li><li>Infections(H.pylori, CMV)</li><li>Medications</li><li>Lymphoproliferative disorders</li></ul>
Describe the signs and sx of ITP
<ul><li>Bruising</li><li>Petechial/purpuric rash</li><li>Blleeding(lc)-epistaxis or gingival bleeding</li><li>Unusually heavy menstrual flow in women/blood in urine/stools</li></ul>
Describe the management of ITP
<ul><li>Usually self-resolving(80% within 6 mths)-conservative watch and wait</li><li>Avoid team sports etc</li><li>TXA may be used especially if menorrhagia</li><li>Persistent/very low platelet count: Oral /IV corticosteroids</li><li>IVIG</li><li>Platelet transfusions but ONLY in emergency as a temporary measure</li></ul>
Describe the prognosis of ITP in children
<ul><li>Generally self-resolving</li><li>1/5: chronic</li><li>If not resolved in 6 months: consider differentials including bone marrow aspirate</li></ul>
Describe the aetiology of TTP
<ul><li>Hereditary: congenital mutatin of ADAMST13</li><li>AI: AI inhibition of ADAMST13</li></ul>
Describe the clinial features of TTP
Pentad of:<br></br><ul><li>Fever</li><li>Microangiopathic haemolytic anaemia</li><li>Thrombocytopenic purpura</li><li>CNS involvement: headache, confusion, seizures</li><li>AKI</li></ul><div>Rare, typically adult females</div>
Describe the management of TTP
<ul><li>Fresh frozen plasma-contains vWF</li><li>Plasma exchange: removes antibodies and toxins associated with pathogenesis of disease</li><li>High dose steroids, low dose aspirin and rituximab</li></ul>
Describe the epidemiology of testicular torsion
<ul><li>Mc in neonates and males between 13-16 years</li></ul>
Describe the signs and symptoms of testicular torsion
<ul><li>Sudden onset, severe pain in one testicle</li><li>Pain can be referred to the lower abdomen</li><li>N+V</li><li>Unilateral loss of cremaster reflex</li><li>Negative Prehn's sign: persistent pain despite elevation of testicle</li><li>Swollen tender testis retracted upwards</li><li>May be hx of previous similar pain episodes whcih self-resolved</li></ul>
Describe the management of testicular torsion
<ul><li>Urgent surgical exploration</li><li>Bilateral orchidopexy-fixation of both testicles to prevent future torsion</li></ul>
Describe the prognosis of testicular torsion
<ul><li>Worse in neonates-> testis rarely viable</li></ul>
Describe the aetiology of testicular torsion in neonates?
<ul><li>Torsion is extravaginal-> spermatic cord and tunica vaginalis twist together in or just below inguingal canal</li></ul>
Describe the management of testicular torsion in neonates
<ul><li>Torted testis is removed and contralateral testis is fixed in place</li></ul>
Descirbe the epidemiology of precocious puberty
<ul><li>Mc in females than males</li><li>Average onset of puberty has been decreasing over the past few decades-thought to be due to obesity</li></ul>
Describe the pathophysiology of gonadotrophin dependent precocious puberty
<ul><li>'central/true'</li><li>Due to premature activation of hypothalamic-pituitary-gonadal axis</li><li>FSH and LH raised</li></ul>
Descirbe the pathophysiology of gonadotrophin independent precocious puberty
<ul><li>'pseudo/false'</li><li>Due to excess sex hromones</li><li>FSH nad LH low</li></ul>
Describe the management of precocious puberty
<ul><li>GnRH analogues to suspend progression of puberty</li><li>urgery to resect tumours</li><li>Glucocorticoids for CAH</li><li>Depends on underlying cause</li></ul>
Describe the inheriitance of Kallmann’s syndrome
<ul><li>Usually X-linked recessive</li></ul>
Describe the pathophysiology of Kallmann’s syndrome
<ul><li>Failure of GnRH -secreting neurons to migrate to the hypothalamus</li></ul>
Describe the management of Kallmann’s syndrome
<ul><li>Testosterone supplementation</li><li>Gonadotrophin supplementation may result in sperm production if fertility is desired laater in life</li></ul>
Describe the epidemiology of congenital adrenal hyperplasia
<ul><li>Boy-more severe</li><li>75%: salt-losing</li><li>25%: non-salt losing</li></ul>
Describe the pathophysiology of congenital adrenal hyperplasia
<ul><li>Impaired adrenal steroid biosynthesis</li><li>Deficiency in cortisol production-> compensatory overproduction of ACTH by anterior pituitary</li><li>Elevated ACTH-> increased production of adrenal androgens-> virilization of female infants and affect genital development</li></ul>
Describe the aetiology of congenital adrenal hyperplasia
<ul><li>21 hydroxylase deficiency-mc-90%-> cortisol deficiency and excess androgen production</li><li>11-beta-hydroxylase</li><li>17-hydroxylae deficiency: very rare</li></ul>
Describe the signs and symptoms of congenital adrenal hyperplasia
<ul><li>Ambiguous genitalia(exposure to excessive androgen exposure in utero)-male infants appear normal so delays diagnosis</li><li>Salt wasting crisis</li><li>Precocious puberty</li><li>Virilisation</li><li>Infertility</li><li>Heigth and growth abnormalities-grow fast initially but end up short</li></ul>
Describe the sx of a salt-wasting crisis
<ul><li>Dehydration and vomiting</li><li>Hyponatraemia</li><li>Hyperkalaemia</li><li>Circulatory shock and metabolic acidosis</li><li>Life-threatening</li></ul>
Describe the management of congenital adrenal hyperplasia
<ul><li>Glucocorticoid(hydrocortisone) and mineralocorcticoid(fludrocortisone) replacement</li><li>Patient education: if unwell: increase hydrocortisone and ma need IV fluids</li><li>Surgical intervention: virilised females-correct external genital abnormalities</li></ul>
Describe the management of obesity in children
<ul><li>Encourage healthy lifestyle</li><li>>12yrs with severe physical/psychological comorbidities: drug treatment such as orlistat under MDT</li></ul>
Describe the epidemiology of congenital hypothyroidism
<ul><li>F>M</li></ul>
Describe the aetiology of congenital hypothyroidism
<ul><li>Primary congenital hypothyroidism</li><li>Thyroid dysgenesis-mc cause</li><li>Dyshormonogenesis</li><li>Secondary or central congenital hypothyroidism</li><li>Defects in hypothalamus or pituitary gland leading to low TSH secretion</li><li>May be secondary too maternal carbimazole use or maternal antibodies</li></ul>
Describe the clinical features of congenital hypothyroidism
<ul><li>Prolonged neonatal jaundice</li><li>Delayed mental and physical milestones</li><li>Short stature</li><li>Puffy face, macroglossia</li><li>Hypotonia</li><li>Myxoedema</li><li>Bradycardia</li><li>If not dx early: altered nerudevelopment and cognitive disability</li></ul>
Describe the management of congenital hypothyroidism
<ul><li>Immediate thyroid hromone replacement therapy with levothyroxine</li><li>Regular monitoring of TSH and T4 for dose adjustments according to growth</li><li>Long term follow up to monitor growth and development and to ensure treatment adherence</li></ul>
Describe the epidemiology of pica
<ul><li>Mc in young children<5yrs and pregnancy</li><li>Higher prevalence in low and middle income countries</li><li>Common in individuals with developmental disabilities: ASD etc and psych disorders(OCD, schizophrenia)</li></ul>
Describe the aetiology of pica
<ul><li>Nutritional deficiencies: iron and zinc</li><li>Developmental and behavioral</li><li>Psychiatric disorders: OCD, schizophrenia, ASD,, intellectual disorders</li></ul>
Describe the symptoms of pica
<ul><li>Persistent craving and ingestion of non-food for at least a month</li><li>Geophagia: dirt/clay</li><li>Cornstarch</li><li>Ice</li><li>Paper</li><li>Chalk</li><li>Soap</li><li>Hair</li></ul>
Describe the management of pica
<ul><li>Iron/zinc supplements</li><li>Dietary counselling</li><li>Behavioural therapy including CBT</li><li>SSRIs: underlying OCD or severe psychiatric disorders</li><li>Environmental modification: remove objects in environment, supervision aand restricted access to pica substances</li></ul>
Describe the epidemiology of eczema
<ul><li>Very common</li><li>Childhood onset common</li><li>Prevalence decreases with age</li><li>Urbanisation and industrialisation associated with higher prevalence</li></ul>
Describe the pathophysiology of eczema
<ul><li>Vast lymphcoytic infiltration into dermis</li><li>Often IgE-mediated allergic response to environmental allergens</li></ul>
Describe the general features of eczema
<ul><li>Itchy, erythematous rash</li><li>Repeated scratching can exacerbate affecteed areas</li><li>In infants: face and trunk</li><li>Younger children: extensor surfaces</li><li>Older children: more typical-flexor surfaces and creases of face and neck</li></ul>
Describe the management of eczema
<ul><li>Conservative: avoid triggers</li><li>Simple emollients: use lots</li><li>Topical steroids(emollient first then steroid 30 minutes later)</li><li>Wet wrapping</li><li>Light therapy</li><li>Systemic: oral steroids, oral ciclosporin, DMARDS like methotrexate, biologics</li></ul>
Describe the symptoms of eczema herpeticum
<ul><li>Vesicles and punched out erosions where the vesicles have deroofed will appear</li><li>May affect large areas of skin including sites that are not currently eczematous</li><li>May be multi--organ involvement</li></ul>
<div><img></img><br></br></div>
Describe the cllinical features of Stevens Johnson syndrome
<ul><li>Within a week of medication intake, initially resembling a URTI with cough, cold, fever and sore throat</li><li>Rash is maculopapular with characteristic target lesions-> may develop into vesicles or bullae)</li><li>Nikolsky sign positive: blisters and erosions appear when skin is rubbed gently</li><li>Mucosal involvement</li><li><10% of body surface-TEN: >30% if skin</li></ul>
<div><img></img><br></br></div>
Describe the management of Steven-Johnson syndrome
<ul><li>Hospital admission</li><li>Supportive care-> flluid and electrolyte management, pain control, treat secondary infections</li></ul>
Describe the prognosis of Steven-Johnson syndrome
<ul><li>10% mortality rate-usually due to dehydration, infection or DIC</li><li>TEN: 30% mortality rate</li></ul>
Describe the aetiology of allergic rhinitis
<ul><li>IgE mediated response to allerganes within the environemnt</li><li>Seasonal: hayfever-pollens</li><li>Pereennial: throughout the year</li><li>Occupational: exposure to specific allergens</li></ul>
Describe the signs and sx of allergic rhinitis
<ul><li>Nasal pruritus</li><li>Sneezing</li><li>Clear nasal discharge</li><li>Post-nasal drip</li><li>Nasal pruritus</li><li>Eye redness</li><li>Eye puffiness</li><li>Watery eye discharge</li></ul>
Describe the management of allergic rhinitis
<ul><li>Avoid triggers</li><li>Nasal irrigation with saline</li><li>Oral/intranasal antihistamines</li><li>Intranasal teroids</li><li>Oral steroids</li><li>SHort course or topical nasal decongestant-not for prolonged periods</li><li>ENT referral</li></ul>
Describe the features of erythema toxicum
<ul><li>Benign rash in newborns</li><li>Erythematous macules, papules and pustule</li><li>Waxes and wanes over severeal days-usually no more than one day</li></ul>
<div><img></img><br></br></div>
Describe the rash assocaited with scepticaemia?
<ul><li>Non-blanching purpuric rash</li><li>Lethargy, headache, fevers, vomiting</li></ul>
Describe the rash assocaited with slapped cheek syndrome
<ul><li>Rash on both cheeks</li><li>Fever, URTI sx</li><li><img></img><br></br></li></ul>
Describe the rash associated with hand foot and mouth disease
<ul><li>Blisters on hands and feet</li><li>Grey ulcerations in buccal cavity, fever, lethargy</li><li><img></img><br></br></li><li><img></img><br></br></li></ul>
Describe the rash associated with scarlet fever
<ul><li>Coarse red rash on cheeks</li><li>Sore throat, headache, fever, bright red tongue</li><li>Sandpaper texture rash</li><li><img></img><br></br></li><li><img></img><br></br></li></ul>
Describe the rash associated with measles?
<ul><li>Erythematous, blanching maculoppapular rash</li><li>Fever, cough, runny nose, conjuncitivitis, Koplik spots</li><li><img></img><br></br></li><li><img></img><br></br></li></ul>
Describe the rash associated with urticaria
<ul><li>Raised, itchy red rashes</li><li>Usually not accompanied by fever</li><li><img></img><br></br></li></ul>
Describe the rash associated with chickenpox
<ul><li>Maculopapular vesicular rash that crusts over and forms blisters</li><li><img></img><br></br></li></ul>
Describe the rash associated with roseola
<ul><li>Lace-like rash across whole body</li><li>High fever</li><li><img></img><br></br></li></ul>
Describe the rash associated with rubella
<ul><li>Starts on head and spreads to trunk</li><li>Post-auricular lymphadenopathy</li><li><img></img><br></br></li></ul>
Describe the epidemiology of urticaria
<ul><li>Women>men</li><li>Peak incidence: 20-40yrs</li></ul>
Describe the pathophysiology of urticaria
<ul><li>Release of histamine and other mediators form mast cells and basophils-> increased vascular permeability and formation of wheals</li><li>Both immune-mediated and non-immune mechanisms contribute to development of urticaria</li></ul>
Describe the signs and sx of urticaria
<ul><li>Pruritus</li><li>Erythematous wheals with well defined borders</li><li>Whelas that vary in shape and size</li><li>Rapid onset and resolution</li><li>Occasionally angiodema-> can involve lips, eyelids or extremities</li></ul>
<div><img></img><br></br></div>
Describe the management of urticaria
<ul><li>ID and remove triggers</li><li>Pharmacological:</li></ul>
<ol><li>Non sedating antihistamine: cetirizine, loratadine</li><li>Other antihistamines or LRTA</li><li>Short course oral corticosteroids</li></ol>
<div><ul><li>Symptomatic management: antipruritic creams like calamine lotion</li></ul></div>
<br></br>
Describe the features of stork marks
<ul><li>Red/pink patches, often on eyelids/head/neck</li><li>Very commmon</li><li>Easier to see when baby cries</li><li>Usually fade by age 2 on forehead/eyelids, longer if back of head or neck</li><li><img></img><br></br></li></ul>
Describe the features of haemangiomas
<ul><li>Blood vessels that form from raised lump on skin</li><li>Appear soon after birth, bigger in first 6-12 mths, then shrink and disappear by age 7</li><li>More common in girls, premature babies and multiple births</li><li>May need tx if affect vision, breathing or feeding</li><li><img></img><br></br></li></ul>
Describe the features of port wine stains
<ul><li>Red, purple or dark marks usually on face or neck</li><li>Present from birth</li><li>Usually on 1 sideof body</li><li>Sometimes can become lumpier if not treated</li><li>Can be made lgihter using laser tx</li><li>Sign of Sturg-Weber syndrome/Klippel-trenaunay syndrome but this is rare</li></ul>
<div><img></img><br></br></div>
Describe the features of cafe-au-lait spots
<ul><li>Light/brown pathces anywhere on the body</li><li>Common, lots of children have 1/2</li><li>Darker on black/brown skin</li><li>Sign of NF1 if >=6 spots</li></ul>
Describe the features of blue-grey spots
<ul><li>Loook like bruises</li><li>There from birth</li><li>Mc on babies with black/brown skin</li><li>No tx, usulaly go away by age 4</li><li>Should be recorded on medical records-avoid thinking its abuse </li></ul>
Describe the epidemiology of anaphylaxis
<ul><li>Relatively uncommon</li><li>Higher risk in patients with asthma/atopy</li><li>Incidence rising especially in Western countries</li></ul>
Describe the aetiology of anaphylaxis
<ul><li>Type 1 hypersensitivity reaction.Allergen reacts with specific IgE antibodies causing a rapid release of histamine and other vasoactive substances-> increases capillary permeability causing oedea and shock</li></ul>
Describe the clinical features of anaphylaxis
<ul><li>Sudden onset and rapid progression of sx</li><li>Airway: hoarse voice, lip swelling, stridor indicative of upper airway obstruction and laryngeal oedema</li><li>Breathing: wheezing, SOB, fatigue, SpO2<94%</li><li>Circulation: tachycardia, hypotension/shock, angioedema, confusion</li></ul>
<div>Others:</div>
<div><ul><li>Generalised pruritus</li><li>Widespread erythematous or urticarial rash</li><li>GI: abdominal pain, diarrhoea, vomiting</li></ul></div>
Describe the acute management of anaphylaxis
<ul><li>Immediate IM adrenaline</li><li>Remove trigger</li><li>Manage ariway and high flow oxygen</li><li>IV fluids</li><li>If no response, repeat adrenaline</li></ul>
Describe the long term management of anaphylaxis
<ul><li>Counselling on use of adrenalinie auto-injectors</li><li>Supply of 2 auto-injectors</li><li>Written advice</li><li>Referral to local allergy service for follow up</li></ul>
What is rheumatic fever?
<ul><li>AI systemic complication of lancefield Group A beta-haemolytic strep infection (scaarlet fever) that occurs 2-4 weeks post infection</li></ul>
Describe the epidemiology of rheumatic fever
<ul><li>Mc in developing countries</li></ul>
Describe the pathophysiology of rheumatic fever
<ul><li>2-4 weeks post beta haemolytic strep infection(scarlet fever) autoantibodies generated that target the strep and cross-react with the endocardium leading to valvular disease</li></ul>
Describe the split of different vavle diseases occuringin rheumatic heart disease
<ul><li>Mitral valve disease: 70% MC</li><li>Aortic valve: 40%</li><li>Tricuspid: 10%</li><li>Pulmonary valves: 2%</li></ul>
Describe the minor criteria for rheumatic fever
<ul><li>Raised ESR/CRP</li><li>Pyrexia</li><li>Athralgia(if arthritis not a major criteria)</li><li>Prolonged PR interval</li></ul>
Describe the management of rheumatic fever
<ul><li>Oral/IV bbenzylpenicillin</li><li>Analgesia for arhritic sx: NSAIDs, aspirin(not in young children)</li><li>Treatment of heart failure: diuretics, ACE inhibitor, surgery for valve defects if severe</li><li>Sydenham's chorea: self-limiting, acutely haloperidol/diazepam</li></ul>
Describe the prognosis of rheumatic fever
<ul><li>No cure for rheumatic heart disease</li><li>If severe valvular disease: requires surgery-40% with severe rheumatic heart disease</li></ul>
Describe the aetiology of paediatric heart disease
<ul><li>Usually congenital heart defects</li><li>Acquired: myocarditis, arrhythmias, htn</li><li>Different underlying mechanisms compared to adultss</li></ul>
Describe the signs and symptoms of paediatric heart failure
Infants:<br></br><ul><li>Difficulty feeding</li><li>Faltering growth</li></ul><div>Young children:</div><div><ul><li>Abdo pain and vomiting especially on exertion</li><li>Poor appetite</li></ul><div>Adolescents:</div></div><div><ul><li>Exercise intolernace</li><li>Fatigue</li></ul><div>All ages: cyanosis and hepatomegly</div></div>
Describe the management of paediatric heart failure
<ul><li>Conservative: fluid restriction and dietitian guided feeding plans</li><li>Medical: diuretics with inotropic support: ACE inhibitors mc used</li><li>Surgical: ventricular assist device to improve circulation</li><li>Correction of anatomical defect if present</li><li>Heart transplant in end stage cases</li></ul>
Describe the prognosis of paediatric heart failure
<ul><li>Progressive</li><li>Leading cause of mortality in children with heart disease</li></ul>
Describe the pathophysiology of infective endocarditis
<ul><li>Damage to endocardium-> heart valve forms local blood clot-> platelets and fibrin deposits allow bacterium to stick to endocardium-> formation of vegetations</li><li>Valves have no dedicated blood supply-> body can't launch immune response to vegitations</li></ul>
Describe the major criteria for infective endocarditis
<ul><li>Blood culture positive for IE(2 times separate positive blood cultures for 2 sites showing typical microorganisms)</li><li>Evidence of endocardial involvement: echo showing vegetation, abscess etc</li></ul>
Describe the minor criteria for infective endocarditis
<ul><li>Fever: >38 degrees</li><li>Immunological: Roth spots, splinter haemorrhages, Osler's nodes</li><li>Vascular: septic emboli, Janeway lesions</li><li>Echo minor criteria</li><li>Predisposing features: knwon valve disease, IVDU, prosthetic valve disease</li><li>Microbiological evidence that doesn't meet major criteria</li></ul>
Describe the management of infective endocarditis
<ul><li>6 week courseof IV abx-usually midline insertion</li><li>When organism and sensitivities not known: amoxicillin (vancomycin)</li></ul>
Describe the prognosis of infective endocarditis
<ul><li>Without tx, can rapidly lead to heart failure and death</li></ul>
Describe the aetiology of congenital heart block
<ul><li>Maternal systemic AI diseases: SLE and Sjogren: anti-Ro and/or anti La</li><li>Structural heart defects</li><li>Some cases idiopathic-can run in families</li></ul>
Describe the signs and symptoms of congenital heart block
<ul><li>Asx</li><li>Neonates: bradycardia and/or circulatory shock</li><li>Older children: pre-syncope, syncope, usually in first few years of life</li></ul>
Describe the management of congenital heart block
<ul><li>Asx: close monitoring</li><li>Sx: neonatal ICU admission-> isoprenaline</li><li>Implant pacemaker</li></ul>
Describe the prognosis of congenital heart block
<ul><li>Up to 20% chance of intrauterine fetal death</li><li>Good prognosis after pacemaker insertion</li><li>20% ris of recurrence in future pregnancies-> pre-conception counselling</li></ul>
Describe the signs and sx of IBS
<ul><li>>=6 months</li><li>Abdo pain</li><li>Bloating</li><li>Change in bowel habit</li><li>Sx made worse by eating</li><li>Passage of mucus</li><li>Lethargy, nausea, backache, bladder sx also common</li></ul>
Describe the management of IBS
<ul><li>Dietary and lifestyle: stress maanagement, low FODMAP diet</li><li>Antispasmodics: mebeverine, laxatives, anti-diarrhoeal</li><li>TCA's</li></ul>
<div>Refractory: psychotherapy including CBT</div>
Describe the epidemiology of gastroenteritis
<ul><li>Common worldwise and affects all ages</li><li>Leadig cause of death in children under 5 worldwide</li></ul>
Describe the bacterial causes of gastroenteritis
<ul><li>S.aureus-cooked meats and cream products</li><li>Bacillus cereus-reheated rice</li><li>Clostridium perfringens</li><li>Campylobacter</li><li>E.coli</li><li>Salmonella</li><li>Shigella</li></ul>
Describe the presentation of a patient with gastroenteritis
<ul><li>Diarrhoea and vomitng</li><li>Blood in stool-bacterial pathogen</li><li>Systemic: malaise and fever</li><li>Signs of dehydration/shock if severe</li></ul>
Describe the management of gastroenteritis
<ul><li>Notifiable if outbreaks</li><li>Supportive: fluid replacement orally and using sachets</li><li>Clinical dehydration/shock: IV fluids or NG rehydration</li><li>Severe and immunocompromised: abx</li><li>Ondansetron in severe cases</li><li>Gradual reintroduction of food-avoid fruit juice and carbonated drinks</li></ul>
Describe the prognosis of gastroenteritis
<ul><li>Vomiting 1-2 days, diarrhoea 5-7 days</li><li>Most children: complete resolution within 2 weeks</li><li>Secondary lactose intolerance: diarrhoea for up to 6 weeks </li></ul>
Describe the epidemiology of Crohn’s disease
<ul><li>Mc in northern climates and develoepd countries</li><li>Bimodal age of onset: 15--40yrs, then 60-80yrs</li><li>Mc in caucasians</li></ul>
Describe the clinical features of Crohn’s disease
<ul><li>GI: crampy abdo pain and non-bloody diarrhoeaa</li><li>Systemic: weight los and fever</li><li>Aphthous ulcers in mouth</li><li>Cachectic and pale(anaemia), clubbing</li><li>Erythema nodosum</li><li>Pyoderma gangrenosum</li><li>Anterior uveitis</li><li>Axial spondyloarthropathy</li><li>Gallstones</li><li>AA amyloidosis</li></ul>
Describe the management of Crohn’s disease
<ul><li>Smoking cessation</li><li>In flare: monotherapy with glucocorticoids(oral/IV prednisolone or hydrocortisone), biologics</li><li>Remission: azathioprine, mercaptopurine, methotrexate, biologics(infliximab or adalimumab)</li><li>Surgical: treat complications</li></ul>
Describe the management of peri-anal fistulae in Crohn’s disease
<ul><li>Drainage seton</li><li>Fistulotomy</li></ul>
Describe the management of peri-anal abscess in Crohn’s disease
<ul><li>IV abx: ceftriaxone+metronidazole</li><li>Exam under anaesthetic and incision and drainage</li></ul>
Describe the clinical features of Ulcerative colitis
<ul><li>Diarrhoea containing blood and/or mucus</li><li>Tenesmus/urgency, cramps</li><li>Systemic: wt loss, fever, malaise, anprexia</li><li>Exam: pallor, clubbing</li><li>Derm: erythema nodosum, pyoderma gangrenosum</li><li>Ocular: anterior uveitis</li><li>MSk: sacroilitis</li><li>Hepatobiliary: PSC</li><li>AA amyloidosis</li></ul>
Describe the management of mild-moderate Ulcerative colitis
<ul><li>Topical amiosalicylate</li><li>Oral if no improvement in 4 weeks</li><li>Consdiier adding oral prednisolone</li><li>Etrasimod</li><li>Oral tacrolimus</li></ul>
Describe the management of acute severe Ulcerative colitis
<ul><li>IV corticosteroids</li><li>Add IV ciclosporin of no improvements in 72 hours</li><li>Trial etrasimod(velsipity)</li><li>Emergency surgery</li></ul>
Describe the epidemiology of coeliac disease
<ul><li>F>M</li><li>Bimodal: infancy or 50-60yrs</li><li>Increased incidence in Irish</li></ul>
Describe the pathophysiology of coeliac disease
<ul><li>Sensitivity to gluten and realted prolamines results in villous atrophy of the lining of the small intestine and results in malabsorption</li></ul>
Describe the symptoms of coeliac disease in children
<div><ul><li>Abdo pain</li><li>Distention</li><li>N+V</li><li>Diarrhoea</li><li>Steatorrhoea</li><li>Fatigue</li><li>Weight loss</li></ul></div>
Describe the management of coeliac disease
<ul><li>Lifelong gluten free diet</li><li>Patient education</li><li>Supplements for deficiencies: iron/vitamins etc</li><li>Regular monitoring to ensure diet adherence and screen for complications</li></ul>
Describe the presentation of a child with malnutrition
<ul><li>Poor growth</li><li>Plateaued weight gain or weight loss</li><li>Difficulties concentrating</li><li>Intellectual disability</li><li>Specific vitamin deficiencies</li></ul>
Describe the management of malnutrition in the uk
<ul><li>Vitamin supplements</li><li>Increase caloric intake with high-energy food and drinks(smoothies, milkshakes, cheese)</li><li>Specific supplements: iron</li></ul>
Describe some signs that might point to non-organic FTT
<ul><li>Nutritional indicators</li><li>Social indicators-signs of neglect(poor hygiene, unattetended medical needs)</li><li>Poor parent-child interactions, parental mh issues</li></ul>
Describe the management of FTT
<ul><li>Stabilisation if severe dehydration/electrolyte imbalances</li><li>Nutritional supprot-dietitian</li><li>Mineral and vitamin supplementation</li><li>Address underlying cause</li><li>Follow up to plot growth chart</li></ul>
Describe the aetiology of Hirschsprung’s disease
<ul><li>Aganglionic segment of bowel due to a developmental failure of the parasympathetic Auerbach and Meissner plexuses</li></ul>
Describe the pathophysiology of Hirschsprung’s disease
<ul><li>Parasympathetic neuroblasts fail to migrate form the neural crest to the distal colon-> developmental failure of parasympathetic Auerbach and Meissner plexuses-> uncoordinated peristalsis-> funcitonal obstruciton</li></ul>
Describe the epidemiology of Hirschsprung’s disease
<ul><li>Rare</li><li>3 x more common in males</li><li><b>Down's syndrome</b></li></ul>
Describe the management of Hirschsprung’s disease
<ul><li>Rectal washouts/bowel irrigation</li><li>Definitive: surgery to affected segment of colon</li></ul>
Describe the pathophysiology of Meckel’s diverticulum
<ul><li>Remnant of vitellointestinal duct which usually disappears around 6th week gestation</li><li>Contains ectopic ileal , gastric or pancreatic mucose</li></ul>
Describe the presentation of a patient with Meckel’s diverticulum
<ul><li>Usually asx</li><li>Painless rectal bleeding-ulceration of adjacent tissue</li><li>Intestinal obstruction</li><li>Intussusception</li><li>Abdominal pain mimicking appendicitis</li></ul>
Describe the management of Meckel’s diverticulum
<ul><li>Laparoscopic surgical resection of diverticulum l if narrow neck/symptomatic using wedge excision or small bowel resection and anastamosis</li></ul>
Describe the management of toddler’s diarrhoea?
<ul><li>Reassurance will go by 6yrs</li><li>4F's:</li><li>Fat-higher fat diets improve: whole milk, cheese, ice cream</li><li>Fruit juice: limit </li><li>Fluid: consider limiting to meal and snack times if drinking too much</li><li>Fibre: not high fibre or low fibre</li></ul>
Describe the symptoms of infantile colic
<ul><li>Bouts of excessive crying and pulling up of legs</li><li>Often worse in evening</li></ul>
Describe the management of infantile colic
<ul><li>Reassurance and supprot for parents</li><li>Advice about feeding positions and environments etc: continue feeding normally</li><li>If concerns about health then further evaluation: poor weight gain, vomiting, fever etc</li></ul>
Describe the epidemiology of cow’s milk protein intolerance
<ul><li>First 3 months </li><li>Formula fed infants</li></ul>
Describe the presentation of infants with cow’s milk protein intolerance
<ul><li>Persistent diarrhoea, vomiting, FTT, abdo pain in first few months of life</li><li>Usually present after introduction of cow's milk to diet</li><li>Abdo pain: may draw up legs if younger</li><li>Diarrhoea: may be bloody/mucus</li><li>Eczema/urticaria</li><li>Immediate IgE mediated: urticaria, angioedema, vomitinfg wheezing within 2 hours of presentation</li></ul>
Describe the management of cow’s milk protein intolerance in a formula fed infant
<ul><li>Extensive hydrolysed formula milk replacement</li><li>Amino acid-based formula as second line</li></ul>
Describe the management of cow’s milk protein intolerance in a breast fed infant
<ol><li>Continue breasteeding</li><li>Eliminate cow's milk protein from maternal diet</li><li>Use extensively hydrolysed formula milk when done breastfeeding until 12 months of age</li></ol>
Describe the epidemiology of choledochal cyst
<ul><li>Rare</li><li>More common in Asian children</li><li>3 x as common in girls</li></ul>
Describe the signs and symptoms of choledochal cyst
<ul><li>Asx-found before birth on antenatal scan</li><li>Triad of abdo pain, jaundice and abdominal mass</li><li>Jaundice-blocking of bile drainage</li><li>Abdo pain</li><li>Cholangitis</li><li>Peritonitis if cyst bursts/leaks</li><li>Pancreatitis</li></ul>
Describe the aetiology of neonatal hepatitis
<ul><li>Viruses: rubella, CMV, hepatitis A/B/C</li><li>Idiopathic-mc</li><li>Genetic: A1AT deficiency</li></ul>
Describe the presentation of neonatal hepatitis
<ul><li>Jaundice</li><li>Pruritus</li><li>Rashes</li><li>Dark urine</li><li>Hepatomeglay</li><li>FTT</li></ul>
Describe the management of neonatal hepatitis
<ul><li>Medical: Ursodeoxycholic acid-increase bile formation</li><li>Surgery: cirrhotic liver disease/liver transplant if severe</li><li>Optimise nutrition and vitamin supplementation</li></ul>
Describe the features of a reducible hernia
<ul><li>Bowel can be reduced back into abdo cavity</li><li>Painless and often asymptomatic</li></ul>
Describe the features of a strangulated hernia
<ul><li>Serious acute medical condition where a hernia compromises blood supply to intestines or abdominal tissues-> ischaemia and necrosis of affected bowel tissue</li><li>Risk of sepsis and bowel perforation</li></ul>
Describe the features of an incarcerated hernia
<ul><li>Blood supply not necessarily compromised</li><li>Presents with abdominal pain and irreducible mass</li></ul>
Describe the features of umbilical hernias
<ul><li>Often due to failure of umbilical ring to close after umbilical cord falls off</li><li>Very common in children</li><li>Often close without intervention</li></ul>
Describe the features of epigastric hernias
<ul><li>Herniation between sternum and umbilicus</li><li>Don't close spontaneously</li><li>Not common in children</li></ul>
Describe the features of inguinal hernias
<ul><li>Protrusion through inguinal canal, entering either the deep inguinal ring(direct) or through weakness in abdominal wall(indirect hernia)</li><li>Indirect due to paten processus vaginalis-common in infants</li><li>Direct rare in infants</li></ul>
Describe the epidemiology of hernias
<ul><li>Common in children</li><li>M>F</li><li>Strangluated more common in adults due to age-related weakening of abdominal wall</li></ul>
Describe the presentaiton of a patient with a strangulated hernia
<ul><li>Severe abdominal pain</li><li>Vomiting</li><li>Hx of intermittent pain, especially when hernia still reducible</li><li>Signs of bowel obstructions: abdo distention, constipation, inability to pass stool/gas</li></ul>
Describe the management of a strangulated hernia
<ul><li>Surgical:</li><li>Release herniated bowel to restore blood flow</li><li>Remove necrotic tissue to prevent sepsis</li><li>Reinforce weakened area of abdo wall with mesh etc</li></ul>
