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>
