Selected Notes paeds 3 Flashcards
(487 cards)
What is androgen insensitivity syndrome?
X linked recessive condition due to end organ resistance to testosterone causing genotypically male children(46XY) to have a female phenotype
What causes androgen insensitivity syndrome?
Mutation in the <b><i>androgen receptor gene</i></b><span> on the </span><b><i>X chromosome<font><span>-> extra androgens converted into oestrogen-> female secondary characteristics</span></font></i></b>
What is partial androgen insensitivity syndrome?
Cells have a partial response to androgens<br></br>
What are patient with androgen insensitivity syndrome at increased risk of and why?
Testicular cancer due to undescended testes
What causes Fragile X syndrome?
<ul><li>Genetics</li><li>Mutation in FMR1 gene located on the X chromosome</li></ul>
What is Kawasaki disease?
System, medium sized vasculitis that predominantly affects children
What is a key feature of kawasaki disease?
<ul><li>Persisten high grade fever (>39 degrees) for more than 5 days</li></ul>
What are the typical skin findings you might see in a patient with Kawasaki disease?
<ul><li>Widespread ethythematous maculopapular rash and desquamation (skin peeling) on palms and soles</li></ul>
What investigations might be done to diagnose a child with suspected Kawasaki disease?
<ul><li>Typically clinical diagnosis</li><li>FBC: anaemia, leukocytosis and thrombocytosis</li><li>LFT's: hypoalbuminaemia and elevated liver enzymes</li><li>HIGH ESR, may have other raised inflammatory markers</li><li>Urinalysis: raised WC without infection</li><li>Echo: coronary artery pathologu</li></ul>
What is the main complication of Kawasaki’s disease?
<ul><li>Coronary artery aneurysm-monitor with echos</li></ul>
What is measles?
<ul><li>Highly contagious disease caused by the measles morbillvirus</li></ul>
What are Koplik spots?
<ul><li>Small grey discolourations of the muscoal membranes in the mouth, characteristic of measles</li><li><br></br></li></ul>
What investigations should be done for suspected measles?
<ol><li>Measles specific IgM and IgG serology(ELISA) within a few days of rash onset</li><li>Measles RNA detection by PCR</li></ol>
What is chicken pox and what is it caused by?
<span>acute infectious disease caused by the varicella-zoster virus (VZV), a member of the human herpes virus family. <br></br></span>HHV3
What is the incubation period of chicken pox?
10-21 days
What is the infectivity period of someone with chicken pox?
<ul><li>4 days before rash until 5 days after rash appears</li></ul>
What are the clinical features of chicken pox?
<ul><li>Fever initially</li><li>Itchy rash which starts on head/trunk and spreads. Begins as a macular then papular then vesicular</li><li>Mild fever, fatigue, loss of appetite and general discomfort</li></ul>
What are some differential diagnoses for chicken pox?
<ul><li>Herpes simplex</li><li>Hand, foot and mouth disease</li><li>Scabies</li></ul>
What is the most common complication of chicken pox?
<ul><li>Secondary bacterial infeciton of the lesions due to scratching</li></ul>
What can secondary bacterial infection of chickenpox rash result in?
<ul><li>Invasive group A streptococcal soft tissue infection-> necrotizing fascitis</li></ul>
What are some complications of chicken pox?
<ul><li>Secondary bacterial skin infections due to scratching</li><li>Pneumonia (more common in adults)</li><li>Encephalitis (rare)</li><li>Reye's syndrome (a severe complication, primarily in children)</li><li>Congenital varicella syndrome (if infection occurs during early pregnancy)</li><li>Reactivation of the virus as herpes zoster (shingles) later in life</li></ul>
What is Reye’s syndrome?
<ul><li>Rare but serious condition that affects children and teenagers recovering from a viral infection</li><li>Swelling in liver and brain->vomiting, confusion, seizures and LOC</li></ul>
What is rubella caused by?
<ul><li>Rubella togavirus</li></ul>
What is the incubation period for rubella?
<ul><li>14-21 days</li></ul>
- Cataracts
- Deaffness
- Patent ductus arteriosus
- Brain damage
- Gram positive bacterium Corynobacterium diphtaeriae
- Grey, pseudomembran on posterior pharyngeal wall
- Severe desquamating rash that primarily affects infants
- Production of {{c1::exfoliative exotoxin}} by {{c2::Staph aureus}}
- Splits {{c3::epidermis}} in the {{c4::granular layer}}, scpecifically targeting {{c5::desmoglein 1}}
- Bordatella pertussis-gram negative bacterium
- Viral infection symtpoms, last 1-2 weeks
- Cough increases in severity, 2-8 weeks
- Cough subsides over weeks to months
- Forced inspiration agaist a closed glottis
- Usually worse at night and after feeing
- Bronchiolitis: Characterised by cough, wheezing, and shortness of breath, with or without fever. More common in children less than two years of age.
- Asthma: Symptoms include recurrent episodes of wheezing, coughing, chest tightness, and shortness of breath.
- Pneumonia: Presents with cough, fever, and difficulty breathing. In severe cases, cyanosis may occur.
- Foreign body aspiration: May cause sudden onset of coughing, choking, and wheezing. In some cases, symptoms may be less acute, mimicking other conditions.
- Complete blood count: May show leukocytosis with lymphocytosis.
- Polymerase chain reaction (PCR) testing: Highly sensitive and specific test for diagnosis.
- Culture of nasopharyngeal swab: Gold standard but less sensitive than PCR.
- Paroxysmal cough
- Inspiratory whoop
- Post-tussive vomiting
- Undiagnosed apnoeic attackes in young infants
- Subconjunctival heamorrhage
- Pneumonia
- Bronchiectasis
- Seizures
- Group B strep-usually acquired at birth
- E.Coli and other gram negative organisms
- Listeria monocytogenes
- Neisseria meningitidis
- Strep pneumoniea
- H.influenzae
- Neisseria meningitidis
- Streptococcus pneumoniea
- Cryptococcus neoformans
- Focal neurological signs
- Papilloedema
- Significant bulging of the fontanelle
- DIC/meningococcal sepcitcaemia
- Signs of cerebral herniation
- Blood cultures and PCR for meningococcus
- NOT LP
- Encephalitis: Characterized by altered mental status, fever, and early seizures. However, unlike meningitis, it primarily involves the brain parenchyma rather than the meninges.
- Subarachnoid hemorrhage: Presents with a sudden, severe headache ("worst headache of life"), nausea, vomiting, and loss of consciousness. However, fever and neck stiffness, common in meningitis, are usually absent.
- Fifth disease
- Eryhtema infectiosum
- Parvovirus B19
- Erythroid progenitor cells->haematological complications
- Tends to go by itself, byt can be retriggered by heat,f ever, sunlight or a warm bath for some time after
- Can affect unborn baby in first 20 weeks
- Check IgM and IgG(maternal)
- Red cell aplasia-aplastic crisis especially unvulnerable groups(sickle cell, hereditary spherocytosis)
- Severe foetal anaemia
- Cardiomyopathy
- Mycobacterium tuberculosis
- Localised chest and abdominal pain
- Neck pain-> signs of pleural irritation
- Tachypnoea, nasal flaring, chest indrawing, hypoxia
- Dullness on percussion, decreased breath sounds, bronchial breathing
- End-inspiratory respiratory coarse crackles
- Wheeze and hyperinflation->viral infection
- CXR: consolidation, parapneumonic effusion, empyema
- Nasopharyngeal aspirate in younger children to ID viral causes
- Common, long term inflammatory disease of the airways characterised by reversible airway obstruction and bronchospasm
- Spriometry
- FeNO levels
- PEFR to look at day to day variability and diurnal variability
- CXR to rule out other causes
- Skin prick testing for allergens->atopy and identify triggers
- Leukotriene receptor antagonist
- Montelukaus
- O2>92%
- Peak flow: >50% predicted
- No symptoms of severe asthma
- Also called laryngotracheobronchitis
- Inflammation and swelling of larynx, trachea and bronchi leading to partial obstruction or the upper airway.
- Particularly leads to oedema of the subglottic area resulting in narrowing of the trachea
- Parainfluenza virus
- Parainfluenza virus
- Adenovirus
- Influenza
- RSV
- Bacterial causes are less common but more severe
- 1-4 days history of non-specific rinorrhoea, fever and barking cough
- Worse at night
- Stridor
- Tachypnoea
- Descreased bilateral air entry
- Costal recession
- FBC, CRP, U&Es
- Viral PCR to ID virus
- CXR: 'steeple sign' and excludes foreign body aspiration as differential
- Epiglottitis->no barking cough
- Foreign body aspiration
- Bacterial tracheitis-> high fever, severe respiratory distress
- Asthma
- Viral infection of the bronchioles that causes inflammation and congestion
- 1-9 months
- Respiratory rate >60
- Clinical dehydration
- Apnoea
- Repsiratory rate >70
- Central cyanosis
- SPO2<92%
- Palvizumab vaccine
- Bronchiolitis obliterans(popcorn lung)
- CXR
- CT
- Biopsy
- Pulmonary function tests
- <FEV1
- Progressive, autosomal recessive disorder that cuases persistent lung infections and limits the ability to breathe over time
- Caucasians-1/25 people in UK have mutation
- Rapidly progressing infection that leads to inflammation of the epiglottis and adjacent tissue-> blockage of upper airway-> death
- Haemophilius Influenzae type B
- DO NOT EXAMINE THROAT-> risk of triggering airway obstruction
- Involve senior clinicians-> direct visualisation of inflamed epiglottis-done using laryngoscopy after securing airway
- X-ray-> lateral: thumb sign, posterior: anterior steeple
- Cultures: ID causative organism
- Asthma
- ~< 3 years
- <3 years
- No history of atopy
- Only occurs during viral infections
- Episodic wheeze: symptoms of viral URTI, symptom free between events
- Multiple trigger wheeze: URTI and other factors trigger wheeze
- Infection of the middle ear
- S.pneumoniae, H.influenzae, heamolytic streptococcus
- RSV, corona, denovirus, rhinovirus
- Acute otitis media
- Acute otitis media with effusion(becomes chronic)
- Chronic otitis media
- Chronic secretory otitis media(glue ear)
- Chronic suppurative otitis media
- Clinical->physical exam of tympanic membrane through otoscopy
- Tympanometry(pressure)
- Assess presence of systemic illness
- <3 months and temperature >38 degrees
- Suspected complications-> meningitis, mastoiditis, facial nerve palsy etc
- Systemically unwell or increased risk of complication
- Amoxicillin for 5-7 days
- If no imrpovement: co-amoxiclav
- Glue ear
- Infection and inflammation or the middle ear resulting in the accumulation of lfuid
- Hearing loss, speech and language delays, bheavioural issues due to blockage of the eustachian tube
- Infection of the soft tissues anterior to the orbital septum-includes eyelids, skin and SC tissue of face, NOT contents of orbit
Life threatening: usually bacterial sinusitis
- Periorbital: doesn't affect the contents of orbit, just the soft tissues
- Orbital: affects the muscls of orbit
- S.aureus
- S.epidermis
- Streptococci and anaerobic bacteria
- S.pyogenes
- Clinical exam
- Bloods-> raised inflammatory markers
- Swabs of discharge
- Contrast CT of sinus and orbits-> differentiate between preseptal.orbital
- Squint
- Misalignment of the eyes-> images on retine don't mathc-> diplopia
Paralytic squints
- Imbalance in extra ocular muscles (convergent>divergent)
- Paralysis in at least 1 extraocular muscle-> rare
- Affected eye becomes increasingly passive and loses function compared to other eye
- Outward positioned squint(towards ear)
- Downward movign affected eye
- Upward moving affeced eye
- Inspection
- Eye movemebts
- Visual acuity
- Fundoscopu-> look for red reflex to rule out retinal pathology
- Hirschberg's test
- Cover test
- S.aureus
- S.pyogenes
- Infants
- School age children

- Bullous-causing large blisters
- Non-bullous-Causing sores
- S. aureus ALWAYS
- Group A haemolytic strep-S.pyogenes
- 2-4 days
- Ductus venosus
- Foramen ovale
- Ductus arteriosus
- Connects umbilical vein to inferior vena cava
- Bypass liver
- Between right atrium and left atrium
- Blood bypasses the right ventricle and pulmonary circulation
- Pulmonary artery with aorta
- Blood bypasses pulmonary circulation
- Ligamentim venosum
- Ligamentum arteriosum
- Fossa ovalis
- Fast blood flow through areas of the ehart during systole
- Soft
- Short
- Systolic
- Symptomless
- Situation dependent-> quieter with standing, only appears when ill or feverish
- ECG
- CXR
- Echo
- Mitral regurgitation
- Tricuspid regurgitation
- VSD
- Allows deoxygenated blood fromm the right side of the heart into the left so it enters systemic circulation
- Pulmonary pressure increases beyond the systemic pressure
- Blood flows from right to left across the defect causing cyanosis
- Pressure in {{c1::aorta}} higher than in {{c2::pulmonary vessels}}-> blood flows from aorta to pulmonary artery
- {{c3::Left to right}} shunt-> increased {{c4::pulmonary vessel}} pressure-> {{c5::pulmonary hypertension}}-> Right sided heart strain and {{c6::right ventricular hypertrophy }}
- Increased blood returning to left side leads to {{c7::left ventricular hypertrophy}}
- Ostium secondum
- Patent foramen ovale
- Ostium primum-leads to AV wall defect
- Stroke-VTE
- AF/atrial flutter
- Pulmonary hypertension and right heart failure
- Eisenmenger syndrome
- Closure of aortic and pulmonary valves at slighlty different times
- Second heart sound split does not change with inspiration or expiration
- Turner's
- Bicuspid aortic valve
- Berry aneurysms
- Neurofibromatosis
- Down's syndrome
- Turner's syndrome
- Poor feeding
- Dyspnoea
- Tachypnoea
- Failure to thrive
- Infective endocarditis-use antibiotic prophylaxis
- VSD
- Overriding aorta
- Pulmonary valve stenosis
- RVH
- Entrance to aorta(aortic valve) is placed further to the right than normal, above the VSD
- Increased strain on muscular wall of the right ventricle as it attempts to pump blood against the resistance of the left ventricle
- Rubella
- Increased maternal age
- Alcohol consumption in pregnancy
- Diabetic mother
- Echo with doppler flow studies
- CXR: boot shaped heart
- Cyanosis
- Clubbing
- Poor feeding
- Ejection systolic murmur heard loudest at the pulmonary area
- Heart failure symptoms
- Tet spells
- Intermittent episodes where the right to left shunt becomes temporarily worsened, precipitating a cyanotic episode
- Happens when pulmonary vascular resistance increases or systemic resistance decreases, blood pumps from right ventricle to aorta and bypassess lungs
- Waking
- Physical exertion
- Crying
- Reduced consciousness
- Cyanosis
- Shortness of breath
- Loud single S2
- Prominent RV impulse
- 'Egg on side' appearance on CXR
- Congenital heart condition where the tricuspid valve is set lower int he right side of the heart, causing a bigger right atrium and a smaller right ventricle
- Exposure to lithium in pregnancy
- Patent foramen ovale and atrial septal defect
- Wolff-Parkinson White syndrome
- Gallop rhythm on auscultation-addition of 3rd and 4th heart sounds
- Hepatomegaly
- Prominent 'a' wave in distended jugular venous pulse
- Tricuspid regurg->pansystolic murmur worse on inspiration
- RBBB-> widely split S1 and S2
- Narrow aortic valve that restricts blood flow through the left ventricle into the aorta
- Crescendo decrescendo ejection systolic murmur(2nd IC, Right, radiates to carotids)
- Ejeciton click
- Palpable thrill
- Slow rising pulse and narrow pulse pressure
- Leaflets of pulmonary valve develop abnormally, becoming thickened or fused-> narrow openign between RV and pulmonary artery
- Tetralogy of Fallot
- William syndrome
- Noonan syndrome
- Congenital rubella syndrome
- Ejection systolic murmur heard loudest at 2nd IC L sternal border(pulmonary area)
- Palpable thrill-pulmonary area
- Right ventricular heave due to RVH
- Raised JVP and giant a waves
- Child has never achieved continence before
- Child has been dry for at least 6 months before
- Detailed history, exam and urine disptick
- Might also consider: renal US, urine osmolality etc to check for other causes
- Renal limited form of thrombotic microagniopathy
- Shiga toxin producing E.Coli
- Also pneumococcal infection, HIV, SLE
- Complement dysregulation
- FBC: Hg<8, negative Coombs test, thrombocytopenia, high platelets
- Fragmented blood film-schistocytes and helmet cells
- U%E's: AKI-high urea and creatinine
- Stool culture: evidence of STEC infection, PCR for Shiga toxins
- Normal coagulation studies
- Infection in any area of the urinary tract->kidneys, ureters, bladder, urethra
- Urine disptick-leukocytes and nitrites
- Culture using appropriately collected urine
- US KUB
- Voiding cystourethrogram(VCUG) or nuclear cystogram(visualise refluz of urine from bladder)
- Usually doesn't cross the midline
- Can be bilateral in <5% of cases
- Palpable abdominal mass
- Abdominal distention
- Painless haematuria
- Hypertesnion
- Flank pain
- Systemic: anorexia, fever
- Metastases- 20% to the lung
- Lung
- CT chest, abdo, pelvis
- Renal biopsy-> definitive
1) Tumour confined to kidney
2)Extrarenal spread but resectable
3) Extensive abdominal disease
4)Distant metastases
5) Bilateral metastases
- Good: 80-90% cure rate
- Lowers risk of infertility
- Undescended testes-> 40 times as likely to develop seminomas
- Allows testes to be examined for cancers
- Avoid testicular torsion
- Cosmesis
- Higher the testes in the abdomen the higher the risk fo developing seminomas
- Congenital abnormality where the urethra is abnormally located on the ventral(underside) of the penis
- Distal ventral side
- Cryptorchidism(10%)
- Inguinal hernia
- Should not be circumcised-> foreskin used in procedure
- Non-retractable foreskin with associated scarring that will not resolve spontaneously
- Normal in infants and young children
- Foreskin can't return to original position after being retracted
- Clinical syndrome that arises due to increase permeability of serum proteins through a damaged basement membrane in the renal glomerulus
- Proteinuria(>3g/24hr)
- Hypoalbuminaemia(<30g/L)
- Oedema
- Minimal change disease
- Membranous nephropathy
- Diabetes
- SLE
- Amyloidosis
- Infections: HIV/Hep B/C
- Drugs: NSAIDs
- Urine disptick-> proteinuria and check for microscopic haematuria
- MSU-> exclude UTI
- Urine analysis-> increased ACR ratio
- Renal biopsy if atypical presentation
- FBC/coag screen/U&Es
- Urine dipstick and analysis: proetinuria, haematuria, exclude UTI
- Bloods: Low albumin, high cholesterol
- Kidney biopsy and microscopy
- Haematuria(either microscopic or macroscopic)
- Oliguria
- Proteinuria
- Fluid retention and oedema(less severe than in nephrotic)
- Hypertension
- IgA nephropathy
- Aged 20-30 years
- Urinalysis and MC+S: blood/protein
- GS: renal biopsy and immunofluorescence-> diffuse mesangial IgA immune complex deposition
- Serum IgA levels high in about 50%
- Alcoholic cirrhosis
- Coeliac disease/dermatitis herpetiformis
- Henoch-Schonlein purpura
- Children more than adulta
- Specific strains of Group A beta haemolytic streptococci
- Urinalysis: blood and maybe protein
- Urine microscopy: dysmorphic RBCs(bleeding from glomerulus)
- FBC: raised WCC
- U&E's: AKI
- Ig's
- Complements: low C3
- Antibodies: raised anti-streptolysin and DNAase B
- GS: renal biopsy
- Oliguria
- Haematuria
- Proteinuria
- Hypertension
- Oedema
- Loss of appetite
- Subtype of glomerulonephritis that progresses to end stage renal failure in weeks to months
- Endocrine disorder where the testes produce insufficient sex hormones, particularly testosterone
- Obesity
- Chronic medical conditions: T2DM, HIV
- Genetic disorders
- Treatments for prostate cancer
- Age
- Male
- Infertility
- Osteoporosis
- Gynaecomastia
- Usual bloods
- Bone profile
- Fasting lipids and glucose
- PSA
- Oestrogen, testosterone, sex hormone binding globulin, LH, FSH
- Prolactin
- TSH, T3, T4
- Cortisol
- MRI of pituitary
- CXR
- DEXA scan
- Karyotyping
- Male as additional X chromosome: 47XXY
- Breast cancer(compared ot other males but risk still low)
- Osteoporosis
- Diabetes
- Anxiety and depression
- Bicuspid aortic valve(15%)
- Coarctation of the aorta(5-10%)
- Recurrent otitis media
- Recurrent UTI
- Coarctation of aorta
- Hypothyroidism
- Hypertension
- Diabetes
- Osteoporosis
- Specific learnign difficulties
- Increased incidence of AI conditions like AI thyroiditis and Crohn's
- Genetic condition resulting from the presence of 3 copis of chromosome 21 instead of 2
- Trisomy 21
- Gamete non-disjunction-mc, associated with increasing maternal age
- Robertsonian translocation-4%
- Mosaic Down syndrome-lc
- 1st line and most accurate
- US: nuchal translucency(Down's: >6mm)
- Maternal bloods: B-HCG(higher), pregnancy associated plasma protein A(lower)
- Chorionic villus sampling(CVS): US guided biopsy of placental tissue-done before 15 weeks
- Amniocentesis-> US guided aspiration of amniotic fluid(done later on)
- Blood test from mother, will contrain fragments of DNA and some will come fromplacental tissue and represent fetal DNA-> analysed to detect Down's
- Micrognathia(lower jaw smaller than normal)
- Low-set ears
- Rocker bottom feet
- Overlapping of fingers
- Trisomy 18
- Trisomy 13
- Microcephaly
- Small eyes
- Polydactyly
- Scalp lesions
- Born with cleft palate
- Large testicles after puberty
- Autism
- Seizures
- ADHD
- Hypermobility
- Learnign difficulties
- Macrocephaly
- Long face
- Large ears
- Macro-orchidism
- Similar features, Treacher-Collins is autosomal dominant so will have family history
- Umbrella term for genetic conditions that cause gradual weakening and wasting of muscles
- Gower's sing
- Due to proximal muscle weakness: will use hands on legs to help them stand up
- X-Linked recessive
- X-Linked recessive disorder in the dystrophin gene
- Dystrophin genes reqquired for normal muscular function
- Creatine kinase: raised
- Genetic testing: now replaced muscle biopsy for a definitive diagnosis
- Genetic disorder that usually presents in adulthood
- Genetic condition caused by loss of function of UBE3A gene, specifically the gene inherited by the mother
- Can be caused by a deletion on chromosome 15 or where 2 copies of chromosome 15 come from the father with no copy from the mother.
- Genetic condition caused by the loss of functional genes on the proximmal arm of chromosome 15
- Can be due to a deletion or when both copies are inherited from the mother
- Prader Willi if gene deleted from father
- Angelman if gene deleted from mother
- ''Male Turner's'
- Autosomal dominant associated with a normal karyotype-> defect in gene on chromosome 12
- Congenital heart disease: pulmonary valve stenosis, hypertropic cardiomyopathy, ASD
- Cryptochordism
- Learning disability
- Lymphoedema
- Bleeding disorders
- Increased risk of leukaemia and neuroblastoma
- Supravalvular aortic stenosis
- ADHD
- Hypertenison
- Hypercalcaemia
- Genetic disorder primarily affecting the body's pruduction of collagen, resulting in bone fragility and fractures
- Genetic testing: COL1A1 and COL1A2 genes
- Imaging: x-rays to ID fractures and assess bone density
- Audiology evaluatyions
- NORMAL calcium, phosphate, parathyroid and ALP
- Often clinical diagnosis
- Paediatric skeletal disorder(osteomalacia in adults) caused by a deficiency or impaired metabolism of vitamin D, calcium or phosphate, resultss in an inability to mineralise the bone matrix of growing bone causing soft and deformed bones
- Low vitamin D
- Reduced serum calcium
- Raised alklaine phosphatase
- Raised PTH
- X-ray: osteopneia-bones look more radiolucent)
- Also look for other patholoyg: FBC, inflammatory markers, Kidney, liver, thyroid function tests, malabsorption screening and autoimmune screening
- Infection of the bone that can be acute or chronic caused by bacterial or fungal pathogens
- Also coagulase negative staphylococci
- SSalmonella species
- Definitive: bone biopsy
- MRI: gold standard imaging-bone marrow oedema
- Raissed inflammatory markers, cultures etc
- Infection of the synvial fluid in the joint, typically caused by bacterial or viral pathogen
- Joint aspiration for MSU: aspirate will be turbid and yellls
- Bloods: raised ESR and CRP and WCC
- Cultures: ID causative organisms
- Imaging: x-ray
- Fever >38.5 degrees
- Non-weight bearing
- Raised ESR
- Raised WCC
- Degenerative condition caused by avascular necrosis of the femoral head in children, specifically the femoral epiphysis
- AKA Slipped capital femoral epiphysis-hip disorder in adolescennts where the head of the femur is displaced along the growth plate
- Sex: male in 80% of cases
- Age: adolescents ae 8-15 years(12 yrs average in M, 11 year averag ein F)
- Obesity
- Endocrine disorders: hypothyroidism and hypogonadism
- Ehtnicity: Afro-Caribbean and hispanic populations
- Self limited condiitons characterised by inflammatin and stress induced injury of the tibial tuberosity at the insertion point of the patellar tendon
- Congenital abnormality of the hip joint in whcih the femoral head and the socket of the pelvis(acetabulum) don't articulate properly
- Newborn baby check
- 6 week baby check
- 1st degree family history of hip problems in early life
- Breech presentation >=36 weeks gestation, irresepctive of presentaiton at birth or mode of delivery
- Multiple pregnancy
- Can be systemic onseet(Still's)
- Polyarthritis
- Oligoarthritis
- Enthesitis related
- Juvenile psoriatic
- ANA and RF: typically negative
- Raised inflammatory markers: CRP, ESR, platelets, ferritin
- Low ESR
- Idiopathic inflammatory arthritis in >=5 joints
- Pauciarticular JIA
- Monoarthirits-usually larger joints, often knee or ankles
- Paediatric version of seronegative spondyloarthropathies
- Ankylosing spondylitis, psoriatic arthirtis, reactive arthritis, IBD related arthritis
- Inflammatory arthritis and enthesitis
- Inflammation of insertino pount when tendon inserts into bone
- Can be caused by traumatic stress or AI inflammatory process
- HLAB27
- Sudden onset of severe or unilateral pain
- Restricted/painful neck movements
- Diffuse tenderness on involved side with palpable spasms
- Structural spinal deformity characterised by decompensation of the normal verterbral alignment during rapid skeletal growth in otherwise healthy children
- Lateral meniscus shaped like a disk, variation of normal meniscus
- Can be more prone to injury as is more likely to get stuck in the knee or tear
- Meniscal tear
- Acute myeloid
- Acute lymphoblastic
- Chronic myeloid
- Chronic lymphocytic
- Impaired cell differentiation resulting in large numbers of malignant precurose cells in the bone marrow
- Excess proliferation of mature malignant cells but cell differentiation is unaffected
- Arises from myeloid precurose cell, such as the cells that produce neutrophilsSS(common myeloid progenitor)
- Arises from a lymphoid precursor such as a B or T cell
- Down's sndrome
- AML
- Myelodysplastic syndrome
- Older adults
- t(15,17)
- translocation
- Myeloproliferative disorder like polycythaemia rubra vera or myelofibrosis
- Results from chemicals released when cells are destroyed by chemotherapy
- High uric acid-> AKI (crystals in interstitial space aand tubules of kidneys)
- Hyperkalaemia-> cardiac arrhythmias
- High phosphate-> hypocalcaemia
- Release of cytokines can cause systemic inflammation
- Associated with Auer rods
- Can arise from a myeloproliferative disorder
- 3 phases including long chronic phase
- Associated with Philadelphia chromosome
- 40-50yrs
- 60-70yrs??
- Chronic
- Accelerated
- Blast
- Often asymptomatic
- Pateints diagnosed from incidental finding of raised WCC
- Can last years before progressing
- Abnormal blast cells take up 10-20% of bone marrow and blood cells
- More symptomatic-> anaemia, throombocytopenia and immunodeficiency
- >20% blast cells in the blood
- Sever symtpoms include pancytopenia
- Often fatal
- t(9:22)
- >95% of CML
- Also called BCR-ABL
- 4-5 yrs
- Affects on of lymphocyte precurosr cells causing acute proliferation of one type of lymphcyte,, most commonly B lymphocyte
- Excessive accumulation of these cells replaces other types in bone marrow-> pancytopenia
- Most common leukaemia in children
- Associated with Down's syndrome
- Associated with haemolytic anaemia
- Richter's transformation
- Smudge cells
- >60 years
- Occurs when leukamia cells enter lymph node and change into high grade, fast growin non-Hodgkiin's lymphoma
- MRI/CT
- LP
- Biopsy
- Metastatic brain cancer
- Pilocytic astrocytoma
- Aggressive paediatric brain tumour
- Around 20 months
- raised urinary vanillylmandelic acid (VMA) and homovanillic acid (HVA) levels
- calcification may be seen on abdominal x-ray
- biopsy
- Pyloric sphincter(circular muscle at the base of the stomach controlling gastric emptying into small intestine) becomes hypertrophied-> narrowing of gastric outlet and gastric outlet obstruction
- 2-8 weeks
- Hypochloremic hypokalemic metabolic alkalosis
- Dehydration
- Abdo USS: Visualise hypertrophic pyloric sphincter
- Length: >16-18 mm and thickness >3-4 mm
- Inflammatory condition that involves the lymph nodes in the abdmone and can mimic appendicitis
- FBC: no raised wcc or inflammatory markers
- USS abdomen: enlarged mesenteric lymoh nodes and normal appendix(if visualised)
- Invagination(telescoping) of a segment of the proximal bowel into a distal bowel segment
- Ileum passing into caecum through ileocaecal valve
- Primarily infants: peaks 3 months-2 years
- Viral infections: predisopse
- Lymphoid hyperplasia: e/g/ lymphomas
- Meckel's diverticulum: 'lead point' for intussusception
- Polyps
- Cystic fibrosis
- Hneoch Schonlein purpura
- Boys affected twice as often as girls
- Congenital abnormality where the midgut undergoes abnormal rotation and fixation during embryogenesis making is susceptble to volvulus
- Exomphalos
- Congenital diaphragmatic hernia
- Intrinsic duodenal atresia
- GORD
- Immaturity of the lower oesophageal sphincter allowing contents to pass freely into oesophaguse from stomach
- 'Normal' and can have overlap with normal physiological processes)
- Initial dull, vague discomfort: irritation of visceral afferent nerve fibres from T8-T10
- Transition from visceral to somatic pain as inflammation affects parietal peritoneum covering the abdominal wall
- Parietal peritoneum supplied by somatic afferent nerve fibres from T10-L1: moves to RIF
- VBG: lactate
- Pregnancy test
- Urine dip: leukocytes
- FBC, CRP, LFTS, U&
- CXR: rulee out perforation
- CT abdo pelvis/USS of RIF-usually only used if doubt about diagnosis
- Rare but seriosu conditions where bile ducts in newborn's liver undergo fibrosis and destruction-> can be fatal
Type 1: {{c1::proximal ducts patent, common duct obliterated}}
Type 2: {{c2::Atresia of cystic duct and cystic structures found in porta hepatis}}
Type 3: {{c3::Atresia of left andd right ducts to the level of the porta hepatis}}

- Jaundice
- hepato and splenomeglay
- Abnormal gorwth
- Cardiac murmus
- Abnormally high conjucated bilirubin, total may be normal
- LFTs: high AFTS
- Alpha 1 antitrypsin: other causes of neonatal cholestasis
- Sweat chloride test: CF
- USSS
- Liver biopsy
- Type of seizure that occus in association with a fever, without evidence of intracranial infection or defined cause
- Typically short lived(15 minutes) and tonic-clonic
- Bloods to rule out infection
- LP if CNS infeciton suspected
- EEG if recurrent or neuro deficits
- 1/3
- Age <18 months at onset
- Fever: <39 degrees
- Short duration of fever before seizure
- Family history of febrile convulsions
- Idiopathic/dietary-low fibre, dehydration, psychosocial issues
- Hirschprung's
- CF
- Sexual abuse
- CMPA
- Hypothyroidism
- Spinal cord elsions
- Intestinal obstruction
- Anal stenosis
- Faecal incontinence
- Permanent, non-progressive movement disorders that occur due to damage to a child's CNS
- Spastic-mc
- Dyskinetic
- Ataxic
- Mixed
- Basal ganglia and substantia nigra
- Cerebellar pathways
- MRI-visualise extent and nature of brain lesions
- Genetics to rule out differentials/underlying genetic disorder
- Immunological condition thata rises when a rhesus negative mother becomes sensitised to the rhesus positive blood cells of her baby whilst in utero
- Direct antiglobulin test(DAT)
- USS to check for fetal oedema
- LFT's to check for complications
- Swelling on the newborns head-> typically develops several hours after delivery
- Bleeding between the periosteum and skull
- Oedema to the scalp at the presenting part of the head, typically the vertex
- Mechanical trauma of initial portion of the scalp pushing through the cervix
- Secondary due to use of ventouse delivery
- Infections of the GU tract, surgical wounds, urinary tract and breast that develop after the first 24 hours and on any two of the first 10 days postpartum
- Used to assess the health of a newborn abby
- Appearance
- Pulse
- Grimace
- Activity
- Respiration
- Acute lung damage leading to non-cardiogenic pulmonary oedema(increased permeability of alveolar capillaries leading to fluid acculumaltion in the alveoli)
- Berlin criteria-all of:
- Acute onset(<1 week)
- CXR-> bilateral opacities
- Decreased ratio of arterial to inspired oxygen concentrations(Pa02/FiO2)<=300
- AKA hyaline membrane disease
- Life-threatening condition primarily affectinng premature infants characterised by deficient production of surfactant
- Lowers the surface tension within alveoli
- Deficiency: increased surface tenssion and subsequent alveoli colllapse-> respiratory distress
- Phospholipid containing fluid produced by type 2 pneumocytes in the lungs
- Premature babies
- Maternal diabetes
- Low birth weight
- Multiple pregnancies
- Male
- Delivery via C section without maternal labour
- Family hisitory of NRDS
- Severe systemic infection occuring in infants <90 days old
- Early onset: <72 hours post birth
- Late onset: >72 hours
- Often ascending infections from the maternal genital tract or transplacental infections
- Usually organisms in hospital environemnt orr infant's intestinal flora
- Multiple pregnancies witth sibling with suspected/confirmed infections
- Evidence of GBS in previous baby or current pregnancy
- Premature birth
- Rupture of membranes >18 hours for pre-term babies or >24 hours for term babies
- Maternal temp >38
- Suspected/confirmed maternal sepsis
- Chorioamnionitis
- Group B strep
- E.
- Occurs when a newborn aspirates meconium into the lungs prior to birth-> neonatal morbidity
- Post dates pregnancy: >40 weeks
- Prolonged/difficult labour
- Choriomanionitis
- Pre-eclampsia
- Hypertension in pregnancy
- Oligohydramnios
- Maternal infection
- Placental insufficiency
- Intrauterine growth infection
- <2.6mmol/L
- Congenital defect in the anterior abdominal wall just lateral to the umbilical cord
- Gastroschisis: abdominal contents slip outside without a sac
- Omphalocele: abdominal contents protrude into peritoneal sac
- AKA exomphalos
- Abdminal contents prortude through the anterior abdominal wall but are covered in an amniotic sac formed by amniotic membrane and peritoneum

- Congenital malformation resulting in closed/absent part of small/large intestine
- Down's syndrome
- Congenital GI abnormality where the oesophagus doesn't connect with lower oesophagus and stomach
- Often coincides with traceho-oesophageal fistula

- Connection between the oesophagus and trachea
- Coloboma
- Heart defects
- Atresia choenae
- Retarded development
- Genital hypolpasia
- Ear abnormalities
- Polyhydramnios
- Repsiratory distress
- Distended abdomen
- Choking/swallowing problems, difficulty feeding, excess saliva, 'TOF' cough
- Difficulty in passing an NG tube
- Severe GI disease that primarily affects premature infants. Necrosis of intestine due to ischaemia and infection-> perforatin of the bowel
- Premature
- Low birth weight
- Non-breast milk feeds
- Sepsis
- Acute hypoxia
- Poor intestinal perfusion
- Congenital heart disease
- Intrauterine growth restriction
- Maternal drug use and HIV status
- Incomplete formation of the diaphragm that allows herniation of abdominal viscera into the thorax-> pulmonary hypoplasia and hypertension
- Left-sided posterolateral Bochdalek hernia
- Only around 50% survive
- Yellowing of skin and eyes due to an accumulation of bilirubin, a by product of RBC breakdown
- Rhesus haemolytic disease
- ABO incompatibility
- Hereditary spherocytosis
- G6PD deficiency
- Congenital infections-TORCH screen
- Sepsis
- Physiological
- Breast milk jaundice
- Dehydration
- Infeciton including sepsis
- Haemolysis
- Bruising
- Polycthaemia
- Physiological jaundice
- Biliary atresia
- Hypothyroidism
- Neonatal hepatitis
- UTI
- Prematurity
- Congenital infections-CMV, toxoplasmsosi
- Relative polycythaemia
- Shorter RBC span compared to adults
- Less effective hepatic bilirubin metyabolism in the first few days of life
- Conjugated and unconjugated bilirubin-most important
- Coombs' test(direct antiglobulin)
- TFTs, FBC, blood film
- Urine for MC+S and reducing sugars
- U&Es and LFTs
- Serious complication of untreated jaundice-> excess bilirubin damages brain, especially basal ganglia
- Jaundice
- Irritability
- Vomiting
- Hypotonia then hypertonia
- Generally less responsive, floppy baby not feeding
- Infection of developing fetus or newborn that can occur in utero, during delivery or after birth, caused by any one of infectious organisms
- Toxoplasma gondii
- other: treponema pallidum, VZV, parvovirus B19, HIV
- Rubella
- CMV
- HSV
- Syphilis-can pass through placenta and spread through birth canal
- Fetal death
- Congenital syphilis: craniofacial malformations, rash, deafness
- Infeciton caused by bacterium listeria monocytogenes, foodborne
- Immunocompromised
- Pregnant women
- Isolated cleft lip
- Isolated cleft palate
- Combined cleft lip and palate-mc

- Maternal antiepileptic use
- Seizures
- Encephalitis
- Hepatitis
- Sepsis
- AKA chronic lung disease of prematurity
- Usually affects premature babies-> respiratory distress
- Intubation and ventilation
- Sleep deprivation
- Playing video games/watching TV
- West syndrome/infantile spasms
- Child absence epilepsy
- Lennox-Gastaut syndrome
- Benign rolandic epilepsy/BECTS
- Juvenile myoclonic epilepsy(Janz syndrome)
- Panayiotopoulos syndrome
- Dravet's syndrome
- Severe myoclonic epilepsy typically onsets in infancy in an otherwise healthy infant
- Excellent prognosis
- Usually resolved by adolescence
- Dealy of at least 2 milestones in a child under the age of 5yrs
- 3 mths: tree-turns towards sound
- 6 tmsh: double syllables 'adah'
- 9 mths: mama dada
- 12-15: 2-6 words, commands
- 2.5: 200 words
- 3: short sentences, 'what and who'
- 4: 'why, when how'
- Rare, malignant tumour of the retina that predmoninanly affects shildren under 5yrs
- Retinoblastoma
- Osteosarcoma
- Soft tissue sarcomas
- Urgent referral(<2ww) in children with absent red reflex
- Malignant tumour of the liver which usually occurs in young children(1-2yrs)
- Malignant neoplasm derived from primitive transformed cells of mesenchymal origin that exhibit osteoblastic differentiation and produce malignant osteoid
- Hx of radiaiton or chemo
- Genetics: Li-Fraumeni syndrome, retinoblastoma
- Other bone conditions; chronic osteomyelitis
- Malignant, small round-cell tumour that primarily involves the bone but can arise n soft tissues
- EWS-GLI1 fusion gene
- Malignant proliferation of lymphocytes which accumulate in lymph nodes or other organs
- Characterised byb presence of Redd-Steinberg cellss
- EBV
- HIV
- Immunosuppression
- Smoking
- Normally promotes platelet adhesion to damaged endothelium
- Stabilises clotting factor 8
- Type 1: partial reduction in vWF-80%
- Type 2: abnormal form of vWF
- Type 3: total lack of vWF(autosomal recessive)
- Congenital hypoothyroidism
- Sickle cell
- CF
- Phenylketonuria
- MCADD
- Maple syrup urine isease MSUD
- Isovaleric acidaemia
- Glutaric aciduria type 1
- Homocystinuria
- FBC: MCV, Hb, RBC, MCH
- WCC+ platelets-> signs of bone marrow failure
- Reticulocyte count->asssess boen marrow response
- Iron studies: ferritin low-IDA
- Blood film
- Coombs-autoimmune haemolytic anaemia
- CITB12 and folate
- Genetics
- Fatigue
- Pallor
- Tachycardia
- SOB
- IDA: pica(crave non-food substances like soil)
- Systolic murmur and gallop rhythm
- Splenomegaly and jaundice if haemolytic aanemia
- Group of inherited disorders characterised by abnormal Hb production
- Severity of syndrome proportional to number of absent/abnormal genes
- Alpha thalassaemia: defect in 4 genes for alpha-globin
- Beta thalassaemia: defect in 2 genes for beta-globin
- Autosomal recessive
- Risk of iron overload toxicity
- Iron builds up in heart, joints, liver and endocrinee glands-> death from cardiac failure
- Autosomal recessive condition thatresults in synthesis of an abnormal haemoglobin chain: HbS
- Bloods: FBC, U%Es, LFTs, culture
- CXR: infecitons and acute chest syndrome
- CT/MRI if suspected vaso-occlusive crisis or ischaemic stroke
- Rare autosomal recessive condition that causes bone marrow failure, macrocytic normochromic anaemia and pancytopenia
- X linked recessive inherited bleeding disorders
- A: deficiency in clotting factor 8
- B: deficiency in clotting factor 9
- Autoimmune condition characterised by a reduction in circulating platelets.
- Urological emergency characterised by the twisting of testicle around the spermatic cord due to inadequate attachement of tissues within the scrotum-> obstruced blood flow to affected testicle-> testicular necrosis
- Bell-Clapper deformity
- Undesended testicle
- Trauma
- Prior intermittent torsion
- Testicular tumour
- Primary: inborn characteristics present at birth
- Secondary: Develop during puberty
- Onset of secondary sexual characteristics before the age of 8 in females and 9 in males(earleir than normal age of puberty onset)
- First stage of pubic hair development
- Gonadotrophin release from intracranial lesion
- Gonadal tumour
- Adrenal cause(tumour or adrenal hyperplasia)
- Cause of delayed puberty secondary to hypogonadotrophic hypogonadism
- Group of autosomal recessive disorders characterised by impaired steroid hormone synthesis within the adrenal cortex due to enzyme defects
- Higher levels of deprivation
- Parental obesity
- Low levels of exercise and high caloric diet
- Female
- Asian children
- Taller children
- Paediatric endocrine disorder characterised by insufficient production of thyroid hormones at birth-> can cause irreversible cognitive impairment
- Craving to eat non-food items >2yrs
- Chronic inflammatory disorder of the skin characterised by dermatitis with resultant spongiotic change in the epidermis
- Dermatological emergency-> disseminated HSV in a patient with eczema
- Occurs when a patient is first infected with HSV
- Severe systemic reaction affecting the skin and mucosa-almost always caused by a drug reactiob
- Immune complex mediatede hypersensitivity disorder
- Inflammatory condition affecting the nasal mucosa-> becomes sensitized to allergens
- Deeper form of urticaria with swelling in the dermis and submucosal or SC tissue
- Lasts for >6 weeks
- Allergens(food, medications, insect stings)
- Physical stimuli(pressure, cold, heeat)
- Infections
- AI processes
- Stress and emotional factors
- Genetics
- Coloured marks ont he skin that are present at birth or soon afterwards
- Acute and severe type 1 hypersensitivity reaction -severe, life-threatening
- Animals: insect stings
- Foods: nuts(mc), shellfish, fish, eggs, milk
- Medications: abx, IV contrast media, NSAIDs
- Jones criteria
- Evidence of recent strep infection+ 2 major criteria OR 1 major with 2 minor
- Erythema marginatum
- Sydenham's chorea
- Polyarthritis
- Carditis and valvulitis
- SC nodules
- Oxygen sats(pre-ductal and post-ductal-before/after reaching ductus arteriosus of aorta)
- Bloods: FBC, U&ES, LFTS, CRP, TFT, bone profile, BNP
- CXR and echo
- ECG
- Exercise stress test if old enough
- Infection of inner surface of heart(endocardium), usually the valves
- Previous episode of endocarditis
- Age >60yrs
- Male
- IVDU
- Poor dental care
- Prosthetic valve
- Congenital heart disease
- Valve disease
- Intravascular devices
- S.aureus
- Especially in IVDU
- Strep viridans
- Coagulase negative staphylococci: Staph epidermis
- Strep bovis
- Consider colonoscopy and biopsy in these patients
- Haemophilus
- Actinobacillus
- Cardiobacterium
- Eikenella
- Kingella
- Febrile
- Cachectic
- Clubbing
- Splenomegaly
- Murmur: fever + new murmur is IE until proben otherwise
- Bradycardia: aortic root abscess tracks down to AVN causing heart block
- Septic emboli: abdo pain due ot splenic infarct/abscess, stroke, gangrene
- Janeway lesions
- Splinter haemorrhages
- Osler's nodes-painful pulp infarcs on ends of fingers
- Roth spots-retinal haemorrhages
- Glomerulonephritos
- ECG-prolonged PR interval
- Urine dip-> haematuria-glomerulonephritis
- Bloods-raised inflammatory markers, normocytic anaemia
- Cultures: at least 3 at different times and sites
- Echo: transthoracic echo
- CT CAP: evidence of septic emboli
- Flucloxacillin
- Vancomycin and rifampicin
- Benxylpenicillin
- Vancomycin and gentamicin
- Ceftriaxone
- Type of cardiac arrhythmia in which there is complete dissociation between atrial and ventricular contractioins
- Bundle branch block
- Vasovagal syncope
- Seizure disorders
- Orthostatic hypotension
- Common, chronic GI disorder characterised by abdo pain/discomfort with altered bowel habits without any identifiable structural/biochemical abnormalities
- FBC, ESR, CRP
- Coeliac screen
- Faecal calprotectin
- Inflammation of GI tract predominanly involving stomahc and small intestine characterised by diarrhoea and vomiting
- Rotavirus-mc in infants
- Norovirus-mc in all infants
- Adenovirus
- Crohn's: non-bloody diarrhoea, mouth to anus, inflammation of all layers, Goblet cfells, granulomas, bowel obstruction, fistulae
- UC: blood diarrhoes, ileocaecal valve to rectum, continuous disease, no inflammation beyond submucose, crypt abscesses
- Chronic relapsic remitting inflammatory bowel disease-> transmural granulomatous inflammation which can affect any part of the GI tract
- Truelove and Witt's criteria
- Panproctocolectomy with permanent end ileostomy
- Colectomy with temporary end ileostomy(3 mths later can be reversed)
- Primary sclerosing cholangitis: monitor LFTs yearly
- Inflammatory pseudopolyps
- Increased risk of VTE
- T cell mediated inflammatory AI disease disease that affects the small bowe
- Pallor-> anaemia
- Short stature
- Wasted buttocks
- Vitamin deficiency signs like bruising
- Dermatitis herpetiformis
- Villous atrophy
- Crypt hyperplasia
- Increased intraepithelial T-lymphcoytes
- Wt loss due to poor oral intake/infectious disease
- Organic causes: coeliac, IBD or T1DM
- Poor socioeconomic conditioner
- Poor maternal health
- Frequent infections
- Inappropriate feeding
- Poor diet
- Parasitic infections
- Organic: coeliac and IBD
- Excess energy consumption relative to energy expenditure
- Kwashiorkor
- Marasmus
- Oedema and hepatomegaly due to low protein intake with adequate oral intake

- Significant wasting due to low energy and protein intake

- Insufficient weight gian or inappropriate growthin infants and children
- Manifestation of underlying medical and social issues
- Congenital diverticulum of the small intestine

- 2:1 M:F ratio
- Typically 2 inches long
- 2 feet proximal to caecum
- 2% of population
- Meckel's diverticulum
- Very common and benign set of symptoms of unknown cause
- <3 months old
- Swelling/dilatation of the bile ducts
- Usually common bile duct and hepatic ducts, rarely intrahepatic ducts
- Inflammation of live in newborns(1-2 mths post birth)
- Protrusion of an internal organ through its containing wall(usually abdominal wall)
- Reducible hernia
- Strangulated hernia
- Incarcerated hernia
- Low birth weight and prematurity
- Family history
- Being male-especially inguinal hernias
- Connective tissue disorders