paediatrics anki 3 Flashcards
1
Q
What is androgen insensitivity syndrome?
A
X linked recessive condition due to end organ resistance to testosterone causing genotypically male children(46XY) to have a female phenotype
2
Q
What causes androgen insensitivity syndrome?
A
Mutation in the androgen receptor gene on the X chromosome-> extra androgens converted into oestrogen-> female secondary characteristics
3
Q
What is partial androgen insensitivity syndrome?
A
Cells have a partial response to androgens
4
Q
What are patient with androgen insensitivity syndrome at increased risk of and why?
A
Testicular cancer due to undescended testes
5
Q
What causes Fragile X syndrome?
A
Genetics
Mutation in FMR1 gene located on the X chromosome
6
Q
What is Kawasaki disease?
A
System, medium sized vasculitis that predominantly affects children
7
Q
What is a key feature of kawasaki disease?
A
Persistent high grade fever (>39 degrees) for more than 5 days
8
Q
What are the typical skin findings you might see in a patient with Kawasaki disease?
A
Widespread ethythematous maculopapular rash and desquamation (skin peeling) on palms and soles
9
Q
What investigations might be done to diagnose a child with suspected Kawasaki disease?
A
Typically clinical diagnosis
FBC: anaemia, leukocytosis and thrombocytosis
LFT’s: hypoalbuminaemia and elevated liver enzymes
HIGH ESR, may have other raised inflammatory markers
Urinalysis: raised WC without infection
Echo: coronary artery pathology
10
Q
What is the main complication of Kawasaki’s disease?
A
Coronary artery aneurysm-monitor with echos
11
Q
What is measles?
A
Highly contagious disease caused by the measles morbillvirus
12
Q
What are Koplik spots?
A
Small grey discolourations of the muscoal membranes in the mouth, characteristic of measles
13
Q
What investigations should be done for suspected measles?
A
Measles specific IgM and IgG serology(ELISA) within a few days of rash onset
Measles RNA detection by PCR
14
Q
What is chicken pox and what is it caused by?
A
acute infectious disease caused by the varicella-zoster virus (VZV), a member of the human herpes virus family
HHV3
15
Q
What is the incubation period of chicken pox?
A
10-21 days
16
Q
What is the infectivity period of someone with chicken pox?
A
4 days before rash until 5 days after rash appears
17
Q
What are the clinical features of chicken pox?
A
Fever initiallyItchy rash which starts on head/trunk and spreads.
Begins as a macular then papular then vesicular
Mild fever, fatigue, loss of appetite and general discomfort
18
Q
What are some differential diagnoses for chicken pox?
A
Herpes simplex
Hand, foot and mouth disease
Scabies
19
Q
What is the most common complication of chicken pox?
A
Secondary bacterial infeciton of the lesions due to scratching
20
Q
What can secondary bacterial infection of chickenpox rash result in?
A
Invasive group A streptococcal soft tissue infection->necrotizing fascitis
21
Q
What are some complications of chicken pox?
A
Secondary bacterial skin infections due to scratching
Pneumonia (more common in adults)
Encephalitis (rare)
Reye’s syndrome (a severe complication, primarily in children)
Congenital varicella syndrome (if infection occurs during early pregnancy)
Reactivation of the virus as herpes zoster (shingles) later in life
22
Q
What is Reye’s syndrome?
A
Rare but serious condition that affects children and teenagers recovering from a viral infection
Swelling in liver and brain->vomiting, confusion, seizures and LOC
23
Q
What is rubella caused by?
A
Rubella togavirus
24
Q
What is the incubation period for rubella?
A
14-21 days
25
What is the main complication that can arise from rubella in unvaccinated pregnant women?
Congenital rubella syndrome-fetal anomalies such as:
Cataracts
Deafness
Patent ductus arteriosus
Brain damage
26
What causes diphtheria?
Gram positive bacterium Corynobacterium diphtaeriae
27
What does a sore throat with a diphtheric membrane look like?
Grey, pseudomembran on posterior pharyngeal wall
28
What is scalded skin syndrome?
Severe desquamating rash that primarily affects infants
29
Describe the pathophysiology of staphylococcal scalded skin syndrome
Production of exfoliative toxin by S.aureus
Splits epidermis in the granular layer specifically targeting desmoglein 1
30
What causes whooping cough?
Bordatella pertussis-gram negative bacterium
31
What are the different phases of whooping cough?
Catarrhal phase:
Viral infection symtpoms, last 1-2 weeks
Paroxysmal phase:
Cough increases in severity, 2-8 weeks
Convalescent phase:
Cough subsides over weeks to months
32
What causes the inspiratory whoop in whooping cough?
Forced inspiration agaist a closed glottis
33
What factors might make coughing bouts worse in patients with whooping cough?
Usually worse at night and after feeing
34
What are some differential diagnoses for whooping cough
Bronchiolitis
Asthma
Pneumonia
Foreign body aspiration
35
What investigations might be done in a patient with whooping cough?
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.
36
What is the diagnostic criteria for whooping cough?
Acute cough that has lasted at least 14 days and >=1 of:
Paroxysmal coughInspiratory whoop
Post-tussive vomiting
Undiagnosed apnoeic attacks in young infants
37
What are some ocmplications of whooping cough
Subconjunctival heamorrhage
Pneumonia
Bronchiectasis
Seizures
38
What are the most common causes of meningitis in neonates to 3 month olds?
Group B strep-usually acquired at birth
E.Coli and other gram negative organisms
Listeria monocytogenes
39
What are the most common causative organisms of meningitis in 1 month to 6 year old?
Neisseria meningitidis
Strep pneumoniea
H.influenzae
40
What are the most common causative organisms of meningitis in children over 6 years old?
Neisseria meningitidis
Streptococcus pneumoniea
41
What is the most common fungal causative organism of meningitis?
Cryptococcus neoformans
42
What are some contraindications to doing a LP?
Signs of raised ICP:
Focal neurological signs
Papilloedema
Significant bulging of the fontanelle
DIC/meningococcal sepcitcaemia
Signs of cerebral herniation
43
What investigation should be done in patients with meningococcal scepticaemia?
Blood cultures and PCR for meningococcus
NOT LP
44
What are some differential diagnoses for meningitis?
Encephalitis
Subarachnoid hemorrhage
45
What antibiotic prophylaxis is given to contacts of those with meningitis?
Ciprofloxacin
46
What is slapped cheek syndrome also known as?
Fifth disease
Erythema infectiosum
47
What causes Fifth disease?
Parvovirus B19
48
What does the parvovirus B19 target and what does this cause?
Erythroid progenitor cells->haematological complications
49
What happens to the slapped cheek rash over time?
Tends to go by itself, byt can be retriggered by heat,f ever, sunlight or a warm bath for some time after
50
What advice should a pregnant woman be given if exposed to fifthe disease?
Can affect unborn baby in first 20 weeks
Check IgM and IgG(maternal)
51
What complications might arise from Fifth's disease?
Red cell aplasia-aplastic crisis especially in vulnerable groups(sickle cell, hereditary spherocytosis)
Severe foetal anaemia
Cardiomyopathy
52
What is pneumonia?
Infection of the lower respiratory tract and lung parenchyma resulting in consolidation and impaired gas exchange
53
What is an important cause of penumonia that should be considered in all ages?
Mycobacterium tuberculosis
54
What are the symptoms of pneumonia in children that point towards a bacterial infection?
Localised chest and abdominal pain
Neck pain-> signs of pleural irritation
55
Name some signs of pneumonia in children?
Tachypnoea, nasal flaring, chest indrawing, hypoxia
Dullness on percussion, decreased breath sounds, bronchial breathing
End-inspiratory respiratory coarse crackles
Wheeze and hyperinflation->viral infection
56
What investigations might be done to diagnose pneumonia in children?
CXR: consolidation, parapneumonic effusion, empyema
Nasopharyngeal aspirate in younger children to ID viral causes
57
What is asthma?
Common, long term inflammatory disease of the airways characterised by reversible airway obstruction and bronchospasm
58
What investigations might be used to diagnose asthma?
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
59
What is an LTRA and give an example
Leukotriene receptor antagonist
Montelukaust
60
What are the features of moderate acute asthma?
O2>92%
Peak flow: >50% predicted
No symptoms of severe asthma
61
What is croup?
Also called laryngotracheobronchitis
Inflammation and swelling of larynx, trachea and bronchi leading to partial obstruction or the upper airway.
Oedema of the subglottic area resulting in narrowing of the trachea
62
What is the most common cause of croup?
Parainfluenza virus
63
What are some causes of croup?
Parainfluenza virus
Adenovirus
Influenza
RSV
Bacterial causes are less common but more severe
64
What are some of the broad features of croup?
1-4 days history of non-specific rinorrhoea, fever and barking cough
Worse at night
Stridor
Tachypnoea
Descreased bilateral air entry
Costal recession
65
What investigations might be used to diagnose croup?
FBC, CRP, U&Es
Viral PCR to ID virus
CXR: 'steeple sign' and excludes foreign body aspiration as differential
66
What are some differentials for croup?
Epiglottitis
Foreign body aspiration
Bacterial tracheitis
Asthma
67
What age group is most likely to be admitted for croup and why?
<12 months as they already have a narrower airway
68
What is the treatment for bacterial tracheitis?
IV antibiotics
Intubation and ventilation if required
69
What is bronchiolitis?
Viral infection of the bronchioles that causes inflammation and congestion
70
What age group does bronchiolitis mostly affect?
1-9 months
71
What are the indications for a non-urgen admission in a patient with bronchiolitis?
Respiratory rate >60
Clinical dehydration
72
What are the indications for an urgent admission in a patient with bronchiolitis?
Apnoea
Repsiratory rate >70
Central cyanosis
SPO2<92%
73
What is the prophylaxis for bronchiolitis?
Palivizumab vaccine
74
What is the main complication of bronchiolitis?
Bronchiolitis obliterans(popcorn lung)
75
What investigations might be done in patients with suspected bronchiolitis obliterans?
CXR
CT
Biopsy
Pulmonary function tests
FEV1
76
What is cyctic fibrosis?
Progressive, autosomal recessive disorder that cuases persistent lung infections and limits the ability to breathe over time
77
What group of people is cystic fibrosis most common in?
Caucasians-1/25 people in UK have mutation
78
What is acute epiglottitis?
Rapidly progressing infection that leads to inflammation of the epiglottis and adjacent tissue-> blockage of upper airway->death
79
What age is most affected by acute epiglottitis?
Age 1-6 years
80
What causes acute epiglottitis?
Haemophilius Influenzae type B
81
What investigations might be done in a patient with suspected acute epiglottitis?
DO NOT EXAMINE THROAT-> risk of triggering airway obstructionInvolve 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
82
What condition can viral induced wheeze in childhood put you at higher risk of in later life?
Asthma
83
What age group is most affected by viral induced wheeze?
<3 years
84
What is the difference between viral induced wheeze and asthma?
Viral induced wheeze
<3 years
No history of atopy
Only occurs during viral infections
85
What is the difference between an episodic wheeze and a mutliple trigger wheeze?
Episodic wheeze: symptoms of viral URTI, symptom free between events
Multiple trigger wheeze: URTI and other factors trigger wheeze
86
What is otitis media?
Infection of the middle ear
87
What causes otitis media?
Most commonly bacteria:
S.pneumoniae, H.influenzae, heamolytic streptococcus
Viruses:RSV, corona, denovirus, rhinovirus
88
What are the different types of otitis media?
Acute otitis media
Acute otitis media with effusion(becomes chronic)
Chronic otitis media
Chronic secretory otitis media(glue ear)
Chronic suppurative otitis media
89
What investigations might be done in a patient with suspected glue ear?
Clinical->physical exam of tympanic membrane through otoscopy
Tympanometry(pressure)
Assess presence of systemic illness
90
What are the indications for admitting a patietn with otitis media to hospital?
<3 months and temperature >38 degrees
Suspected complications->meningitis, mastoiditis, facial nerve palsy etc
Systemically unwell or increased risk of complication
91
What antibiotics are used to treat otitis media?
Amoxicillin for 5-7 days
If no improvement: co-amoxiclav
92
What is otitis media with effusion?
Glue ear
Infection and inflammation or the middle ear resulting in the accumulation of fluid
93
What can otitis media with effusion result in?
Hearing loss, speech and language delays, bheavioural issues due to blockage of the eustachian tube
94
What is periorbital cellulitis?
Infection of the soft tissues anterior to the orbital septum-includes eyelids, skin and SC tissue of face, NOT contents of orbit
95
What is orbital cellulitis?
Serious infection of the soft tissues behind the orbital septum
Life threatening: usually bacterial sinusitis
96
What is the difference between periorbital cellulitis and orbital cellulitis?
Periorbital: doesn't affect the contents of orbit, just the soft tissues
Orbital: affects the muscls of orbit
97
What causes periorbital cellulitis?
Infection spreads from nearby sites, most commonly sinusitis or RTI's
S.aureus
S.epidermis
Streptococci and anaerobic bacteria
S.pyogenes
98
What investigations might be used to diagnose periorbital cellulitis?
Clinical exam
Bloods-> raised inflammatory markers
Swabs of discharge
Contrast CT of sinus and orbits->differentiate between preseptal.orbital
99
What is strabismus?
Squint
Misalignment of the eyes->images on retina don't match-> diplopia
100
What are the 2 types of squint?
Concomitant squints
Paralytic squints
101
What are concomitant squints?
Imbalance in extra ocular muscles (convergent>divergent)
102
What are paralytic squints?
Paralysis in at least 1 extraocular muscle-> rare
103
What is ambylopia?
Affected eye becomes increasingly passive and loses function compared to other eye
104
What is esotropia?
Inward positioned squint(affected eye towards nose)
105
What is exotropia?
Outward positioned squint(towards ear)
106
What is hypotropia?
Downward movign affected eye
107
What is hypertropia?
Upward moving affeced eye
108
What investigations might be done to diagnose a squint?
Inspection
Eye movemebts
Visual acuity
Fundoscopu-> look for red reflex to rule out retinal pathology
Hirschberg's test
Cover test
109
What is impetigo?
highly contagious superficial epidermal infection of the skin primarily caused by Staphylococcal and Streptococcal bacteria.
110
What are the most common causes of impetigo?
S.aureus
S.pyogenes
111
What age group(s) does impetigo most commonly affect?
Infants
School age children
112
What are the different types of impetigo?
Bullous-causing large blisters
Non-bullous-Causing sores
113
What bacteria causes bullous impetigo
S. aureus ALWAYS
114
Should children with impetigoe be kept off school?
Yes-until lesions are crusted/healed OR 48 hours after commencing antibiotic treatment
115
What causes scarlet fever?
Group A haemolytic strep-S.pyogenes
116
What is the incubation period of scarlet fever
2-4 days
117
What are the 3 shunts in fetal circulation?
Ductus venosus
Foramen ovale
Ductus arteriosus
118
What does the ductus venosus connect and what does it bypass?
Connects umbilical vein to inferior vena cava
Bypass liver
119
What does the foramen ovale connect and what is bypassed because of it?
Between right atrium and left atrium
Blood bypasses the right ventricle and pulmonary circulation
120
What does the ductus arteriosus connect and what does it bypass?
Pulmonary artery with aorta
Blood bypasses pulmonary circulation
121
What does the ductus venosus become?
Ligamentim venosum
122
What does the ductus arteriosus become when it closes?
Ligamentum arteriosum
123
What does the foramen ovale become?
Fossa ovalis
124
What group are innocent murmus most common in?
Children
125
What causes innocent murmurs?
Fast blood flow through areas of the ehart during systole
126
What are the features of an innocent murmur?
Soft
Short
Systolic
Symptomless
Situation dependent-> quieter with standing, only appears when ill or feverish
127
What investigations owuld be done in a patient with a murmur?
ECG
CXR
Echo
128
What are the differentials of a pan-systolic murmur?
Mitral regurgitation
Tricuspid regurgitation
VSD
129
What causes cyanotic heart disease?
Right to left shunt
Allows deoxygenated blood from the right side of the heart into the left so it enters systemic circulation
130
What is Eisenmenger syndrome?
Pulmonary pressure increases beyond the systemic pressure
Blood flows from right to left across the defect causing cyanosis
131
Describe the pathophysiology of PDA
Presure in aorta>pulmonary vessels-> left to right shunt
Increased pulmonary vessel pressure-> pulmonary hypertension-> right sided heart strain and RVH
Increased blood returning to left side-> LVH
132
What are the different types of atrial spetal defects?
Ostium secondum
Patent foramen ovale
Ostium primum-leads to AV wall defect
133
What are some complications of an atrial spetal defect?
Stroke-VTE
AF/atrial flutter
Pulmonary hypertension and right heart failure
Eisenmenger syndrome
134
What is splitting of the second heart sound?
Closure of aortic and pulmonary valves at slighlty different times
135
What is meant by a fixed split?
Second heart sound split does not change with inspiration or expiration
136
What conditions is coarctation of the aorta associated with?
Turner's
Bicuspid aortic valve
Berry aneurysms
Neurofibromatosis
137
What conditions are coarctation of the aorta commonly associated with?
Down's syndrome
Turner's syndrome
138
Name some symptoms of a VSD in a neonate
Poor feeding
Dyspnoea
Tachypnoea
Failure to thrive
139
What are patients with VSDs at increased risk of?
Infective endocarditis-use antibiotic prophylaxis
140
What are the 4 coexisting pathologies in tetralogy of fallot?
VSD
Overriding aorta
Pulmonary valve stenosis
RVH
141
What is meant by 'overriding aorta'?
Entrance to aorta(aortic valve) is placed further to the right than normal, above the VSD
142
What causes right ventricular hypertrophy in tetralogy of fallot?
Increased strain on muscular wall of the right ventricle as it attempts to pump blood against the resistance of the left ventricle
143
Name some risk factors for tetralogy of fallot
Rubella
Increased maternal age
Alcohol consumption in pregnancy
Diabetic mother
144
What investigations are used to diagnose tetralogy of fallot?
Echo with doppler flow studies
CXR: boot shaped heart
145
Name some symptoms of tetralogy of fallot
Cyanosis
Clubbing
Poor feeding
Ejection systolic murmur heard loudest at the pulmonary area
Heart failure symptoms
Tet spells
146
What are 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
147
Name some things that can trigger tet spells
Waking
Physical exertion
Crying
148
What can severe tet spells result in?
Reduced consciousness
Cyanosis
Shortness of breath
149
Name the signs of transposition of the great arteries
Loud single S2
Prominent RV impulse'Egg on side' appearance on CXR
150
What is Ebstein's anomaly?
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
151
What is Ebstein's anomaly associated with?
Exposure to lithium in pregnancy
Patent foramen ovale and atrial septal defect
Wolff-Parkinson White syndrome
152
Name the signs of Ebstein's anomaly
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
153
What is congenital aortic valve stenosis?
Narrow aortic valve that restricts blood flow through the left ventricle into the aorta
154
Name some signs of congenital aortic valve stenosis
Crescendo decrescendo ejection systolic murmur(2nd IC, Right, radiates to carotids)
Ejeciton click
Palpable thrill
Slow rising pulse and narrow pulse pressure
155
What is congenital pulmonary valve stenosis?
Leaflets of pulmonary valve develop abnormally, becoming thickened or fused-> narrow openign between RV and pulmonary artery
156
What conditions is congenital pulmonary valve stenosis associated with?
Tetralogy of Fallot
William syndrome
Noonan syndrome
Congenital rubella syndrome
157
Name the signs of congenital pulmonary valve stenosis
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
158
Until what age is nocturnal enuresis considered normal until?
5 years
159
What is primary nocturnal enuresis?
Child has never achieved continence before
160
What is secondary nocturnal enuresis?
Child has been dry for at least 6 months before
161
What investigations might be done in a patient with nocturnal enuresis?
Detailed history, exam and urine disptick
Might also consider: renal US, urine osmolality etc to check for other causes
162
What is haemolytic uraemic syndrome?
Renal limited form of thrombotic microagniopathy
163
What causes secondary/typical haemolytic uraemic syndrome?
Shiga toxin producing E.Coli
Also pneumococcal infection, HIV, SLE
164
What causes primary/typical haemolytic uraemic syndrome?
Complement dysregulation
165
What investigations might be done in a patient with suspectted haemolytic uraemic syndrome?
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
166
What is a urinary tract infections?
Infection in any area of the urinary tract->kidneys, ureters, bladder, urethra
167
What investigations should be done for a suspected UTI?
Urine disptick-leukocytes and nitrites
Culture using appropriately collected urine
168
What investigations are done to diagnose vesicoureteric reflux
US KUB
Voiding cystourethrogram(VCUG) or nuclear cystogram(visualise refluz of urine from bladder)
169
What is the most common presenting symptoms of Wilms' tumour
Palpable abdominal mass
Usually doesn't cross the midline
Can be bilateral in <5% of cases
170
Name some symptoms of Wilms' tumour
Palpable abdominal mass
Abdominal distention
Painless haematuria
Hypertension
Flank pain
Systemic: anorexia, feverMetastases- 20% to the lung
171
What is the most common site for a Wilms' tumour to metastasize to?
Lung
172
What investigations should be done in a patient with suspected Wilms' tumour?
Unexplained large abdominal mass->REVIEW by paediatrician within 48hours
CT chest, abdo, pelvis
Renal biopsy-> definitive
173
Describe the staging of Wilms' tumour
1) Tumour confined to kidney
2)Extrarenal spread but resectable
3)Extensive abdominal disease
4)Distant metastases
5)Bilateral metastases
174
What is the prognosis for a Wilms' tumour
Good: 80-90% cure rate
175
What is cryptorchidism?
Undescended testes-one or both are not present within the dependent portion of the scrotal sac by 3 months
176
What is the difference between cryptorchidism and retractile testis
Retractile testis can be manipulated into scrotum and are sometimes there
177
What is included in an orchidopexy
Inguinal exploration, mobilisation of testis and implantation into a dartos pouch
178
What are the reasons for operating on a patient with cryptorchidism
Lowers risk of infertility
Undescended testes-> 40 times as likely to develop seminomas
Allows testes to be examined for cancers
Avoid testicular torsion
Cosmesis
179
What indicates higher risk for developing seminomas in a patient with cryptorchidism
Higher the testes in the abdomen the higher the risk for developing seminomas
180
What is hypospadias?
Congenital abnormality where the urethra is abnormally located on the ventral(underside) of the penis
181
What is the most common place for the urethra to be located in a patient with hypospadias
Distal ventral side
182
What conditions is hypospadias associated with?
Cryptorchidism(10%)
Inguinal hernia
183
What is the most important thing to remember in a patient with hypospadias prior to having corrective surgery?
Should not be circumcised-> foreskin used in procedure
184
What is phimosis?
Non-retractable foreskin with associated scarring that will not resolve spontaneously
Normal in infants and young children
185
What is paraphimosis?
Foreskin can't return to original position after being retracted
186
What is nephrotic syndrome?
Clinical syndrome that arises due to increase permeability of serum proteins through a damaged basement membrane in the renal glomerulus
187
What is the classic triad of nephrotic syndrome?
Proteinuria(>3g/24hr)
Hypoalbuminaemia(<30g/L)
Oedema
Also hyperlipidaemia and lipiduria
188
What is the most common cause of nephrotic syndrome in children?
Minimal change disease
189
What is the most common cause of nephrotic syndrome in adults?
Membranous nephropathy
190
Name some secondary causes of nephrotic syndrome
Diabetes
SLE
Amyloidosis
Infections: HIV/Hep B/C
Drugs: NSAIDs
191
What investigations would be done in a patient with nephrotic syndrome?
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
192
What age group does minimal change disease usually affect?
1-8 years
193
What investigations might be done in a patient with minimal change disease?
Urine dipstick and analysis: proetinuria, haematuria, exclude UTI
Bloods: Low albumin, high cholesterol
Kidney biopsy and microscopy
194
What are the key features of nephritic syndrome
Haematuria(either microscopic or macroscopic)
Oliguria
Proteinuria
Fluid retention and oedema(less severe than in nephrotic)
Hypertension
195
What is the most common cause of primary glomerulonephritis?
IgA nephropathy
196
What age groupd is IgA nephropathy most commonly seen in?
Aged 20-30 years
197
What investigations might be done in a patient with suspected IgA nephropathy?
Urinalysis and MC+S: blood/protein
GS: renal biopsy and immunofluorescence->diffuse mesangial IgA immune complex deposition
Serum IgA levels high in about 50%
198
What conditions are associated with IgA nephropathy?
Alcoholic cirrhosis
Coeliac disease/dermatitis herpetiformis
Henoch-Schonlein purpura
199
What is post strep glomerulonephritis?
Immune complex mediated GN that typically occurs 1-3 week after a streptococcla URTI
200
What group of people is post strep glomerulonephritis most commonly seen in?
Children more than adulta
201
What causes post strep glomerulonephritis?
Specific strains of Group A beta haemolytic streptococci
202
What investigations might be done in a patient with post strep glomerulonephritis
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
203
Name some symptoms of rapidly progressive glomerulonephritis
Oliguria
Haematuria
Proteinuria
Hypertension
Oedema
Loss of appetite
204
What is rapidly progressive glomerulonephritis?
Subtype of glomerulonephritis that progresses to end stage renal failure in weeks to months
205
What is hypogonadism?
Endocrine disorder where the testes produce insufficient sex hormones, particularly testosterone
206
Name some risk factors for hypogonadism
Obesity
Chronic medical conditions: T2DM, HIV
Genetic disorders
Treatments for prostate cancer
Age
Male
207
What health issues is hypogonadism associated with?
Infertility
Osteoporosis
Gynaecomastia
208
What investigations might be done in a patient with hypogonadism?
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
209
What is Klinefelter syndrome?
Male has additional X chromosome: 47XXY
Can rarely also be 48XXXY or 49XXXXY-more severe
210
What conditions are people with Klinefelter syndrome more at risk of?
Breast cancer(compared ot other males but risk still low)
Osteoporosis
Diabetes
Anxiety and depression
211
What is the most common renal abnormality in patients with Turner's syndrome?
Horseshoe kidney
212
What cardiology conditions are associated with Turner's syndrome?
Bicuspid aortic valve(15%)
Coarctation of the aorta(5-10%)
213
What conditions are associated with Turner's syndrome?
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
214
What is Down's syndrome?
Genetic condition resulting from the presence of 3 copies of chromosome 21 instead of 2
Trisomy 21
215
What are the 3 main genetic mechanisms responsible for Down's syndrome?
Gamete non-disjunction-mc, associated with increasing maternal age
Robertsonian translocation-4%
Mosaic Down syndrome-lc
216
What is the combined test? (Down's syndrome screening)
1st line and most accurate
US: nuchal translucency(Down's: >6mm)
Maternal bloods: B-HCG(higher), pregnancy associated plasma protein A(lower)
217
What are women offered if their antenatal screenign comes back with a >1/150 chance of having a baby with Down's syndrome?
Chorionic villus sampling(CVS): US guided biopsy of placental tissue-done before 15 weeks
Amniocentesis-> US guided aspiration of amniotic fluid(done later on)
218
What is non-invasive prenatal testing(Down's syndrome)?
Blood test from mother, will contrain fragments of DNA and some will come from placental tissue and represent fetal DNA->analysed to detect Down's
219
What are the key features of Edward's syndrome?
Micrognathia(lower jaw smaller than normal)
Low-set ears
Rocker bottom feet
Overlapping of fingers
220
What is Edward's syndrome?
Trisomy 18
221
What is Patau's syndrome?
Trisomy 13
222
What are the key features of Patau syndrome?
Microcephaly
Small eyes
Polydactyly
Scalp lesions
Born with cleft palate
Large testicles after puberty
Autism
Seizures
ADHD
Hypermobility
223
What are the features of Fragile X?
Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism
224
What is the difference between Pierre-robin syndrome and Treacher-Collins syndrome?
Similar features, Treacher-Collins is autosomal dominant so will have family history
225
What is meany by 'muscular dystrophy'?
Umbrella term for genetic conditions that cause gradual weakening and wasting of muscles
226
What is the main clinical exam finding in a patient with muscular dystrophy and why?
Gower's sign
Due to proximal muscle weakness: will use hands on legs to help them stand up
227
What is the inheritance of Duchenne Muscular dystrophy?
X-Linked recessive
228
What causes Duchenne Muscular Dystrophy?
X-Linked recessive disorder in the dystrophin gene
Dystrophin genes required for normal muscular function
229
What investigatinos are done to diagnose Ducehnne msuclar dystrophy?
Creatine kinase: raised
Genetic testing: now replaced muscle biopsy for a definitive diagnosis
230
What is myotonic dystrophy?
Genetic disorder that usually presents in adulthood
231
What is Angelman syndrome?
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.
232
What is Prader willi syndrome?
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
233
What is the difference in inheritance between prader willi syndrome and angelman's syndrome?
Prader Willi if gene deleted from father
Angelman if gene deleted from mother
234
What is Noonan syndrome?
''Male Turner's
Autosomal dominant associated with a normal karyotype->defect in gene on chromosome 12
235
What conditions are associated with Noonan syndrome?
Congenital heart disease: pulmonary valve stenosis, hypertropic cardiomyopathy, ASD
Cryptochordism
Learning disability
LymphoedemaBleeding disorders
Increased risk of leukaemia and neuroblastoma
236
What conditions are associated with William's syndrome?
Supravalvular aortic stenosis
ADHD
Hypertenison
Hypercalcaemia
237
What is osteogenesis imperfecta?
Genetic disorder primarily affecting the body's pruduction of collagen, resulting in bone fragility and fractures
238
What investigations might be done to diagnose osteogenesis imperfecta?
Genetic testing: COL1A1 and COL1A2 genes
Imaging: x-rays to ID fractures and assess bone density
Audiology evaluations
NORMAL calcium, phosphate, parathyroid and ALP
Often clinical diagnosis
239
What is Ricket's?
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
240
What investigations might be done in a patient with suspected rickeets?
Low vitamin D
Reduced serum calcium
Raised alkaline phosphatase
Raised PTH
X-ray: osteopenia-bones look more radiolucent)
Also look for other pathology: FBC, inflammatory markers, Kidney, liver, thyroid function tests, malabsorption screening and autoimmune screening
241
What is osteomyelitis?
Infection of the bone that can be acute or chronic caused by bacterial or fungal pathogens
242
What are the most common causative organisms of osteomyelitis?
S. aureus most commonly
Also coagulase negative staphylococci
243
What is the most common cause of osteomyelitis in patients with sickle cell?
Salmonella species
244
What investigations might be done in a patient with osteomyelitis?
Definitive: bone biopsy
MRI: gold standard imaging-bone marrow oedema
Raised inflammatory markers, cultures etc
245
Wha is septic arthritis?
Infection of the synovial fluid in the joint, typically caused by bacterial or viral pathogen
246
What investigations are used to diagnose septic arthritis?
Joint aspiration for MSU: aspirate will be turbid and yellls
Bloods: raised ESR and CRP and WCC
Cultures: ID causative organismsImaging: x-ray
247
What is the Kocher criteria for diagnosing septic arthritis?
Fever >38.5 degrees
Non-weight bearing
Raised ESR
Raised WCC
248
What is Perthes' disease?
Degenerative condition caused by avascular necrosis of the femoral head in children, specifically the femoral epiphysis
249
What is Slipped Upper Femoral Epiphysis?
AKA Slipped capital femoral epiphysis-hip disorder in adolescennts where the head of the femur is displaced along the growth plate
250
Name some risk factors for Slipped Upper Femoral Epiphysis
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
251
What is osgood schlatter disease?
Self limited condiitons characterised by inflammatin and stress induced injury of the tibial tuberosity at the insertion point of the patellar tendon
252
What is developmental dysplasia of the hip?
Congenital abnormality of the hip joint in whcih the femoral head and the socket of the pelvis(acetabulum) don't articulate properly
253
Wen is screening for developmental dysplasia of the hips done?
Newborn baby check
6 week baby check
254
What infants require a routine US for developmental dysplasia of the hips?
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
255
What is juvenile idiopathic arthritis?
Arthritis occurs in someone <16 and lasts >6 weeks
Can be systemic onset(Still's)
Polyarthritis
Oligoarthritis
Enthesitis related
Juvenile psoriatic
256
What investigations might be done in a patient with Still's disease?
ANA and RF: typically negative
Raised inflammatory markers: CRP, ESR, platelets, ferritin
257
What is a key investigation finding in a patient with macrophage activation syndrome
Low ESR
258
What is polyarticular JIA?
Idiopathic inflammatory arthritis in >=5 joints
259
What is oligoarticular JIA?
Pauciarticular JIA
Monoarthirits-usually larger joints, often knee or ankles
260
What is enthesitis relateed JIA?
Paediatric version of seronegative spondyloarthropathies
Ankylosing spondylitis, psoriatic arthirtis, reactive arthritis, IBD related arthritis
Inflammatory arthritis and enthesitis
261
What is enthesitis?
Inflammation of insertino pount when tendon inserts into bone
Can be caused by traumatic stress or AI inflammatory process
262
What gene is associated bwith enthesitis relateed arthritis?
HLAB27
263
Name some typical features of torticollis
Sudden onset of severe or unilateral pain
Restricted/painful neck movements
Diffuse tenderness on involved side with palpable spasms
264
What is adolescent idiopathic scoliiosis?
Structural spinal deformity characterised by decompensation of the normal verterbral alignment during rapid skeletal growth in otherwise healthy children
265
What is discoid meniscus?
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
266
What condition is associated with discoid meniscus?
Meniscal tear
267
What are the 4 types of leukamia?
Acute myeloid
Acute lymphoblastic
Chronic myeloid
Chronic lymphocytic
268
What causes acute lymphoid leukaemia?
Impaired cell differentiation resulting in large numbers of malignant precurose cells in the bone marrow
269
What causes chronic leukaemia?
Excess proliferation of mature malignant cells but cell differentiation is unaffected
270
What causes myeloid leukaemia?
Arises from myeloid precurose cell, such as the cells that produce neutrophilsSS(common myeloid progenitor)
271
What causes lymphocitic anaemia?
Arises from a lymphoid precursor such as a B or T cell
272
What condition is associated with ALL?
Down's sndrome
273
What is the most common form of acute leukaemia in adults?
AML
274
What is AML commonly associated with?
Myelodysplastic syndrome
275
What demographic is usually affected by AML?
Older adults
276
What genetic change is associated with AML?
t(15,17)translocation
277
What can AML result from?
Myeloproliferative disorder like polycythaemia rubra vera or myelofibrosis
278
What causes tumour lysis syndrome?
Results from chemicals released when cells are destroyed by chemotherapy
279
What does uric acid result in?
High uric acid-> AKI (crystals in interstitial space and tubules of kidneys)
Hyperkalaemia-> cardiac arrhythmias
High phosphate-> hypocalcemia
Release of cytokines can cause systemic inflammation
280
What are the key things to remember about AML
Associated with Auer rods
Can arise from a myeloproliferative disorder
281
What are the key things to remmeber about CML?
3 phases including long chronic phase
Associated with Philadelphia chromosome
282
What age groups is most commonly affected by CML?
40-50yrs
60-70yrs??
283
What are the 3 phases of CML?
Chronic
Accelerated
Blast
284
What happens in the chronic phase of AML?
Often asymptomatic
Pateints diagnosed from incidental finding of raised WCC
Can last years before progressing
285
What happens in the accelerated phase of CML?
Abnormal blast cells take up 10-20% of bone marrow and blood cells
More symptomatic-> anaemia, thrombocytopenia and immunodeficiency
286
What happens in the blast phase of CML?
>20% blast cells in the blood
Sever symtpoms include pancytopenia
Often fatal
287
What is the philadelphia chromosome?
t(9:22) >95% of CML
Also called BCR-ABL
288
What age gruop is most commonly affcetd by ALL?
4-5 yrs
289
What causes ALL?
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
290
What are the key things to remember about ALL
Most common leukaemia in children
Associated with Down's syndrome
291
What are the key things to remember about CLL?
Associated with haemolytic anaemia
Richter's transformation
Smudge cells
292
What age groups is most commonly affected by CLL?
>60 years
293
What is Richter's transformation?
Occurs when leukamia cells enter lymph node and change into high grade, fast growin non-Hodgkiin's lymphoma
294
What investigations might be done to diagnose a paediatric brain tumour?
MRI/CT
LP
Biopsy
295
What is the most common form of brain tumours in the general population?
Metastatic brain cancer
296
What is the most common primary brain tumour in children?
Pilocytic astrocytoma
297
What is a medulloblastoma?
Aggressive paediatric brain tumour
298
What is the median age of onset for a neuroblastoma?
Around 20 months
299
What investigations might be done in a patient with a suspected neuroblastoma?
raised urinary vanillylmandelic acid (VMA) and homovanillic acid (HVA) levels
calcification may be seen on abdominal x-raybiopsy
300
What is pyloric stenosis?
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
301
What age group is most commonly affected by pyloric stenosis?
2-8 weeks
302
What are the complications of pyloric stenosis?
Hypochloremic hypokalemic metabolic alkalosis
Dehydration
303
What investigations are used to diagnose pyloric stenosis?
Abdo USS: Visualise hypertrophic pyloric sphincter
Length: >16-18 mm and thickness >3-4 mm
304
What is mesenteric adenitis?
Inflammatory condition that involves the lymph nodes in the abdmone and can mimic appendicitis
305
What investigations might be done in a patient with mesenteric adenitis?
FBC: no raised wcc or inflammatory markers
USS abdomen: enlarged mesenteric lymoh nodes and normal appendix(if visualised)
306
What is Intussusception
Invagination(telescoping) of a segment of the proximal bowel into a distal bowel segment
307
What is the most common site in which intussusception happens?
Ileum passing into caecum through ileocaecal valve
308
What age group is most commonly affected by intussusception
Primarily infants: peaks 3 months-2 years
309
Name some risk factors for intussusception
Viral infections: predisopse
Lymphoid hyperplasia: e/g/ lymphomas
Meckel's diverticulum: 'lead point' for intussusception
Polyps
Cystic fibrosis
Hneoch Schonlein purpura
310
What gender is more commonly affected by intussusception?
Boys affected twice as often as girls
311
What is intestinal malrotation?
Congenital abnormality where the midgut undergoes abnormal rotation and fixation during embryogenesis making is susceptble to volvulus
312
What conditions does intestinal malrotation occur in?
Exomphalos
Congenital diaphragmatic hernia
Intrinsic duodenal atresia
313
What is the msot common cause of vomiting in children and why?
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)
314
What causes the progressing pain in patients with appendicitis?
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
315
What investigations should be done in a patient with suspected appendicitis?
VBG: lactate
Pregnancy test
Urine dip: leukocytes
FBC, CRP, LFTS, U&Es
CXR: rulee out perforation
CT abdo pelvis/USS of RIF-usually only used if doubt about diagnosis
316
What is biliary atresia?
Rare but seriosu conditions where bile ducts in newborn's liver undergo fibrosis and destruction-> can be fatal
317
Describe the different types of biliary atresia
1. Proximal ducts patent, common duct obliterated
2. Atresia of cystic duct and cystic structures found in porta hepatis
3. Atresia of left and right ducts to level of porta heaptis
318
Name some signs of biliary atresia
Jaundicehepato and splenomeglay
Abnormal growth
Cardiac murmurs
319
What investigations might be done in a patient with biliary atresia?
Abnormally high conjucated bilirubin, total may be normal
LFTs: high AFTS
Alpha 1 antitrypsin: other causes of neonatal cholestasis
Sweat chloride test: CF
USS
Liver biopsy
320
What are febrile convlusions?
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
321
What investigations might be done in a child with a suspected febrile convlusion
Bloods to rule out infection
LP if CNS infeciton suspected
EEG if recurrent or neuro deficits
322
What is the overall risk of further febrile convulsion?
36894
323
What are some risk factors for further febrile seizures?
Age <18 months at onset
Fever: <39 degrees
Short duration of fever before seizure
Family history of febrile convulsions
324
What is the most common cause of constipation in children?
Idiopathic/dietary-low fibre, dehydration, psychosocial issues
325
Name some secondary causes of constipation in children
Hirschprung's
CF
Sexual abuse
CMPA
Hypothyroidism
Spinal cord lesions
Intestinal obstruction
Anal stenosis
326
What is encopresis?
Faecal incontinence
327
What is cerebral palsy?
Permanent, non-progressive movement disorders that occur due to damage to a child's CNS
328
What are the subtypes of cerebral palsy
Spastic-mc
Dyskinetic
Ataxic
Mixed
329
What areas of the CNS are damamged in dyskinetic cerebral palsy?
Basal ganglia and substantia nigra
330
What areas of the CNS are damaged in ataxic cerebral palsy?
Cerebellar pathways
331
What investigations might be done in a child with suspected cerebral palsy?
MRI-visualise extent and nature of brain lesions
Genetics to rule out differentials/underlying genetic disorder
332
What is haemolytic disease of the newborn?
Immunological condition thata rises when a rhesus negative mother becomes sensitised to the rhesus positive blood cells of her baby whilst in utero
333
What investigations might be used in haemolytic disease of the newborn
Direct antiglobulin test(DAT)
USS to check for fetal oedema
LFT's to check for complications
334
What is a cephalohaemata?
Swelling on the newborns head->typically develops several hours after delivery
335
What causes a cephalohaematoma?
Bleeding between the periosteum and skull
336
What is caput succedaneum?
Oedema to the scalp at the presenting part of the head, typically the vertex
337
What causes caput seccedaneum?
Mechanical trauma of initial portion of the scalp pushing through the cervix
Secondary due to use of ventouse delivery
338
What are postpartum/puerperal infections?
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
339
What is the APGAR scor?
Used to assess the health of a newborn abby
340
What are the ccomponents of the APGAR score?
Appearance
Pulse
Grimace
Activity
Respiration
341
What is acute respiratory distress syndrome?
Acute lung damage leading to non-cardiogenic pulmonary oedema(increased permeability of alveolar capillaries leading to fluid acculumaltion in the alveoli)
342
What criteria is used to determine if a patient has ARDS?
Berlin criteria-all of:
Acute onset(<1 week)
CXR->bilateral opacities
Decreased ratio of arterial to inspired oxygen concentrations(Pa02/FiO2)<=300
343
What is neonatal respiratory distress syndrome?
AKA hyaline membrane disease
Life-threatening condition primarily affecting premature infants characterised by deficient production of surfactant
344
What does surfactant do?
Lowers the surface tension within alveoli
Deficiency: increased surface tension and subsequent alveoli colllapse-> respiratory distress
345
What is surfactant?
Phospholipid containing fluid produced by type 2 pneumocytes in the lungs
346
Name some risk factors for neonatal respiratory distress syndrome
Premature babies
Maternal diabetes
Low birth weight
Multiple pregnancies
Male
Delivery via C section without maternal labour
Family hisitory of NRDS
347
What is neonatal sepsis?
Severe systemic infection occuring in infants <90 days old
Early onset: <72 hours post birth
Late onset: >72 hours
348
What causes early onset neonatal sepsis?
Often ascending infections from the maternal genital tract or transplacental infections
349
What causes late onset neonatal sepsis
Usually organisms in hospital environemnt orr infant's intestinal flora
350
Name some risk factors that increase the likelihood of early-onset neonatal sepsis
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
351
What are the most common causes of early neonatal sepsis
Group B strepE.
352
What is meconium aspiration syndrome?
Occurs when a newborn aspirates meconium into the lungs prior to birth-> neonatal morbidity
353
Name some risk factors for meconium aspiration syndrome
Post dates pregnancy: >40 weeks
Prolonged/difficult labour
Choriomanionitis
Pre-eclampsia
Hypertension in pregnancy
Oligohydramnios
Maternal infection
Placental insufficiency
Intrauterine growth infection
354
What is the general figure used to suggest neonatal hypoglycaemia?
<2.6mmol/L
355
What is gastroschisis?
Congenital defect in the anterior abdominal wall just lateral to the umbilical cord
356
What is the main difference between gastroschisis and omphalocele?
Gastroschisis: abdominal contents slip outside without a sac
Omphalocele: abdominal contents protrude into peritoneal sac
357
What is an omphalocele?
AKA exomphalos
Abdminal contents protrude through the anterior abdominal wall but are covered in an amniotic sac formed by amniotic membrane and peritoneum
358
What is intestinal atresia?
Congenital malformation resulting in closed/absent part of small/large intestine
359
What condition is duodenal atresia strongly associated with?
Down's syndrome
360
What is oesophageal atresia?
Congenital GI abnormality where the oesophagus doesn't connect with lower oesophagus and stomach
Often coincides with traceho-oesophageal fistula
361
What is a tracheo-oesophageal fistula?
Connection between the oesophagus and trachea
362
What is CHARGE syndrome?
Coloboma
Heart defects
Atresia choenae
Retarded development
Genital hypolpasi
aEar abnormalities
363
Name some signs and symptoms of oesophageal atresia and tracheo-oesophageal fistula
Antenatal:
Polyhydramnios
Postnatal:
Repsiratory distress
Distended abdomen
Choking/swallowing problems, difficulty feeding, excess saliva, 'TOF' cough
Difficulty in passing an NG tube
364
What is necrotising enterocilitis?
Severe GI disease that primarily affects premature infants.
Necrosis of intestine due to ischaemia and infection-> perforatin of the bowel
365
Name somr risk factors for necrotising enterocilitis
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
366
What is a congenital diaphragmatic hernia?
Incomplete formation of the diaphragm that allows herniation of abdominal viscera into the thorax-> pulmonary hypoplasia and hypertension
367
What is the most common type of congenital diaphragmatic hernia
Left-sided posterolateral Bochdalek hernia
368
What is the prognosis for congenital diaphragmatic hernia
Only around 50% survive
369
What is jaundice?
Yellowing of skin and eyes due to an accumulation of bilirubin, a by product of RBC breakdown
370
Name the causes of jaundice in the first 24 hours post birth
Rhesus haemolytic disease
ABO incompatibility
Hereditary spherocytosis
G6PD deficiency
Congenital infections-TORCH screen
Sepsis
371
Name the causes of jaundice in the 2-14 days post birth period
Physiological
Breast milk jaundice
Dehydration
Infeciton including sepsis
Haemolysis
Bruising
Polycthaemia
372
Name the causes of prolonged jaundice(>14 days/21 if preterm)
Physiological jaundice
Biliary atresia
Hypothyroidism
Neonatal hepatitis
UTI
Prematurity
Congenital infections-CMV, toxoplasmsosi
373
What causes physiological jaundice?
Relative polycythaemia
Shorter RBC span compared to adults
Less effective hepatic bilirubin metyabolism in the first few days of life
374
What is a jaundice screen?
Conjugated and unconjugated bilirubin-most important
Coombs' test(direct antiglobulin)
TFTs, FBC, blood film
Urine for MC+S and reducing sugarsU&Es and LFTs
375
What is kernicterus?
Serious complication of untreated jaundice-> excess bilirubin damages brain, especially basal ganglia
376
Name some symptoms of kernicterus
Jaundice
Irritability
Vomiting
Hypotonia then hypertonia
Generally less responsive, floppy baby not feeding
377
What is a TORCH infection?
Infection of developing fetus or newborn that can occur in utero, during delivery or after birth, caused by any one of infectious organisms
378
What does TORCH stand for?
Toxoplasma gondiiother: treponema pallidum, VZV, parvovirus B19, HIV
Rubella
CMV
HSV
379
What effect does treponema pallidum have on infants?
Syphilis-can pass through placenta and spread through birth canal
Fetal death
Congenital syphilis: craniofacial malformations, rash, deafness
380
What is listeriosis?
Infeciton caused by bacterium listeria monocytogenes, foodborne
381
What groups of people is listeriosis dangerous for?
Immunocompromised
Pregnant women
382
What are the commonest variants of cleft lip/palate?
Isolated cleft lip
Isolated cleft palate
Combined cleft lip and palate-mc
383
What is a major risk factor for developing cleft lip/palate
Maternal antiepileptic use
384
Name some symptoms of disseminated HSV in a neonate
Seizures
Encephalitis
Hepatitis
Sepsis
385
What is bronchopulmonary dysplasia?
AKA chronic lung disease of prematurity
Usually affects premature babies-> respiratory distress
386
What do babies with bronchopulmonary dysplasia typically require at birth
Intubation and ventilation
387
Name some triggers of seizures in children with established epilepsy
Sleep deprivation
Playing video games/watching TV
388
What are the different classifications of epilepsy in children?
West syndrome/infantile spasms
Child absence epilepsy
Lennox-Gastaut syndrome
Benign rolandic epilepsy/BECTS
Juvenile myoclonic epilepsy(Janz syndrome)
Panayiotopoulos syndrome
Dravet's syndrome
389
What is Dravet's syndrome?
Severe myoclonic-> epilepsy typically onsets in infancy in an otherwise healthy infant
390
What is the prognosis like for benign rolandic epilepsy?
Excellent prognosis
Usually resolved by adolescence
391
What is global developmental delay?
Dealy of at least 2 milestones in a child under the age of 5yrs
392
Name some soeech and hearing developmental milestones
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'
393
What is a retinoblastoma?
Rare, malignant tumour of the retina that predmoninanly affects shildren under 5yrs
394
What cancers are linked to mutaitons in the RB1 gene?
Retinoblastoma
Osteosarcoma
Soft tissue sarcomas
395
What is the NICE referral criteria for retinoblastoma?
Urgent referral(<2ww) in children with absent red reflex
396
What is hepatoblastoma?
Malignant tumour of the liver which usually occurs in young children(1-2yrs)
397
What is osteosarcoma?
Malignant neoplasm derived from primitive transformed cells of mesenchymal origin that exhibit osteoblastic differentiation and produce malignant osteoid
398
Name some risk factors for osteosarcoma
Hx of radiaiton or chemo
Genetics: Li-Fraumeni syndrome, retinoblastoma
Other bone conditions; chronic osteomyelitis
399
What is Ewing's sarcoma?
Malignant, small round-cell tumour that primarily involves the bone but can arise n soft tissues
400
What gene is associated with Ewing's sarcoma
EWS-GLI1 fusion gene
401
What is Hodgkin's lymphoma?
Malignant proliferation of lymphocytes which accumulate in lymph nodes or other organs
Characterised byb presence of Redd-Steinberg cellss
402
What is the role of the von Willebrand factor?
Normally promotes platelet adhesion to damaged endothelium
Stabilises clotting factor 8
403
What are the types of von Willebrand's disease?
Type 1: partial reduction in vWF-80%
Type 2: abnormal form of vWF
Type 3: total lack of vWF(autosomal recessive)
404
What conditions are screened for in the neonatal blood spot?
Congenital hypoothyroidism
Sickle cell
CF
Phenylketonuria
MCADD
Maple syrup urine disease MSUD
Isovaleric acidaemia
Glutaric aciduria type 1
Homocystinuria
405
What investigations might be used in a child with anaemia?
FBC: MCV, Hb, RBC, MCH
WCC+ platelets->signs of bone marrow failure
Reticulocyte count->asssess bone marrow response
Iron studies: ferritin low-IDA
Blood film
Coombs-autoimmune haemolytic anaemia
CIT
B12 and folate
Genetics
406
Name some signs and symptoms of anaemia in children
Fatigue
Pallor
Tachycardia
SOB
IDA: pica(crave non-food substances like soil)
Systolic murmur and gallop rhythm
Splenomegaly and jaundice if haemolytic aanemia
407
What is thalassaemia?
Group of inherited disorders characterised by abnormal Hb production
Severity of syndrome proportional to number of absent/abnormal genes
408
What are the 2 types of thalassaemia?
Alpha thalassaemia: defect in 4 genes for alpha-globin
Beta thalassaemia: defect in 2 genes for beta-globin
409
What is the inheritance of beta thalassaemia?
Autosomal recessive
410
What is the problem with regular iron transfusions as a tx for beta thalassaemia?
Risk of iron overload toxicity
Iron builds up in heart, joints, liver and endocrinee glands-> death from cardiac failure
411
What is sickle cell disease?
Autosomal recessive condition thatresults in synthesis of an abnormal haemoglobin chain: HbS
412
What investigations might be used in an acute sickle cell crisis?
Bloods: FBC, U&Es, LFTs, culture
CXR: infections and acute chest syndrome
CT/MRI if suspected vaso-occlusive crisis or ischaemic stroke
413
What is fanconi anaemia?
Rare autosomal recessive condition that causes bone marrow failure, macrocytic normochromic anaemia and pancytopenia
414
What is haemophilia?
X linked recessive inherited bleeding disorders
415
What is the difference between haemophilia A and B?
A: deficiency in clotting factor 8
B: deficiency in clotting factor 9
416
What is immune thrombocytopenic purpura?(ITP)
Autoimmune condition characterised by a reduction in circulating platelets
417
What is testicular torsion?
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
418
Name some risk factors for testicular torsion
Bell-Clapper deformity
Undesended testicle
Trauma
Prior intermittent torsion
Testicular tumour
419
What is the different between primary and secondary sexual characteristics?
Primary: inborn characteristics present at birth
Secondary: Develop during puberty
420
What is precocious puberty?
Onset of secondary sexual characteristics before the age of 8 in females and 9 in males(earleir than normal age of puberty onset)
421
What is adrenarche?
First stage of pubic hair development
422
What causes bilateral testicular enlargement in males with precocious puberty?
Gonadotrophin release from intracranial lesion
423
What causes unilateral testicular enlargement in males with precocious puberty?
Gonadal tumour
424
What causes small testes in males with precocious puberty?
Adrenal cause(tumour or adrenal hyperplasia)
425
What is Kallmann's syndrome?
Cause of delayed puberty secondary to hypogonadotrophic hypogonadism
426
What is congenital adrenal hyperplasia?
Group of autosomal recessive disorders characterised by impaired steroid hormone synthesis within the adrenal cortex due to enzyme defects
427
Name some risk factors for obesity in children
Higher levels of deprivation
Parental obesity
Low levels of exercise and high caloric diet
Female
Asian children
Taller children
428
What is congenital hypothyroidism?
Paediatric endocrine disorder characterised by insufficient production of thyroid hormones at birth-> can cause irreversible cognitive impairment
429
What is pica?
Craving to eat non-food items >2yrs
430
What is eczema?
Chronic inflammatory disorder of the skin characterised by dermatitis with resultant spongiotic change in the epidermis
431
What is eczema herpeticum?
Dermatological emergency-> disseminated HSV in a patient with eczema
Occurs when a patient is first infected with HSV
432
What is Stevens-Johnson syndrome?
Severe systemic reaction affecting the skin and mucosa-almost always caused by a drug reaction
Immune complex mediated hypersensitivity disorder
433
What is allergic rhinitis?
Inflammatory condition affecting the nasal mucosa-> becomes sensitized to allergens
434
What is angio-oedema?
Deeper form of urticaria with swelling in the dermis and submucosal or SC tissue
435
What is chronic urticaria?
Lasts for >6 weeks
436
Name some risk factors/triggers for urticaria
Allergens(food, medications, insect stings)
Physical stimuli(pressure, cold, heat)
Infections
AI processes
Stress and emotional factors
Genetics
437
What are birth marks?
Coloured marks ont he skin that are present at birth or soon afterwards
438
What is anaphylaxis?
Acute and severe type 1 hypersensitivity reaction -severe, life-threatening
439
Name some triggers for anaphylaxis
Animals: insect stings
Foods: nuts(mc), shellfish, fish, eggs, milk
Medications: abx, IV contrast media, NSAIDs
440
What criteria is used to diagnose rheumatic fever?
Jones criteria
Evidence of recent strep infection+ 2 major criteria OR 1 major with 2 minor
441
What are the major criteria for rheumatic fever
Erythema marginatum
Sydenham's chorea
Polyarthritis
Carditis and valvulitis
SC nodules
442
What investigations might be done for paediatric heart failure
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
443
What is infective endocarditis?
Infection of inner surface of heart(endocardium), usually the valves
444
Name some risk factors for infective endocarditis
Previous episode of endocarditis
Age >60yrs
Male
IVDU
Poor dental care
Prosthetic valve
Congenital heart disease
Valve disease
Intravascular devices
445
What is the most common cause of infective endocarditis?
S.aureus
Especially in IVDU
446
What is the most common causative organism of infective endocarditis in ppatient siwth poor dental hygiene?
Strep viridans
447
What is the most common causative organism of infective endocarditis in patients with prosthetic valve disease?
Coagulase negative staphylococci: Staph epidermis
448
What is the most likely casuative organism for infective endocarditis in patients with colorectal cancer?
Strep bovis
Consider colonoscopy and biopsy in these patients
449
What are the culture negative causes of infective endocarditis
HACEK organisms
Haemophilus
Actinobacillus
Cardiobacterium
Eikenella
Kingella
450
Name some signs of infective endocarditis
Systemic:
Febrile
Cachectic
Clubbing
Splenomegaly
Cardiac:
Murmur: fever + new murmur is IE until proben otherwise
Bradycardia: aortic root abscess tracks down to AVN causing heart block
Vascular phenomena:
Septic emboli: abdo pain due ot splenic infarct/abscess, stroke, gangrene
Janeway lesions
Immunological:
Splinter hemorrhages
Osler's nodes-painful pulp infarcs on ends of fingers
Roth spots-retinal hemorrhages
Glomerulonephritos
451
What investigations might be used to assess for infective endocarditis
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
452
What abx are used for the treatment of infective endocarditis caused by S aureus?
Flucloxacillin
Vancomycin and rifampicin
453
What abx are used for the treatment of infective endocarditis caused by S viridans?
Benxylpenicillin
Vancomycin and gentamicin
454
What abx are used for the treatment of infective endocarditis caused by HACEK organisms?
Ceftriaxone
455
What is congenital heart block
Type of cardiac arrhythmia in which there is complete dissociation between atrial and ventricular contractioins
456
Name somee differentials for congenital heart block
Bundle branch block
Vasovagal syncope
Seizure disorders
Orthostatic hypotension
457
What is IBS?
Common, chronic GI disorder characterised by abdo pain/discomfort with altered bowel habits without any identifiable structural/biochemical abnormalities
458
What investigations might be done in a patient with suspected IBS
FBC, ESR, CRP
Coeliac screen
Faecal calprotectin
459
What is gastroenteritis?
Inflammation of GI tract predominanly involving stomahc and small intestine characterised by diarrhoea and vomiting
460
Name some viral causes of gastroenteritis
Rotavirus-mc in infants
Norovirus-mc in all infants
Adenovirus
461
What are the key differences between Crohn's and UC?
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
462
What is Crohn's disease?
Chronic relapsic remitting inflammatory bowel disease->transmural granulomatous inflammation which can affect any part of the GI tract
463
What criteria is used to assess the severity of Ulcerative colitis
Truelove and Witt's criteria
464
Name some surgical options for Ulcerative colitis patients
Panproctocolectomy with permanent end ileostomy
Colectomy with temporary end ileostomy(3 mths later can be reversed)
465
Name some varibale term complications for Ulcerative colitis
Primary sclerosing cholangitis: monitor LFTs yearly
Inflammatory pseudopolyps
Increased risk of VTE
466
What is coeliac disease?
T cell mediated inflammatory AI disease disease that affects the small bowe
467
Name some signs of coeliac disease in children
Pallor-> anaemia
Short stature
Wasted buttocks
Vitamin deficiency signs like bruising
Dermatitis herpetiformis
468
Name some things that might be seen on a jejunal biopsy in a patient with coeliac disease
Villous atrophy
Crypt hyperplasia
Increased intraepithelial T-lymphcoytes
469
Name the causes of malnutrition due to wasting
Wt loss due to poor oral intake/infectious disease
Organic causes: coeliac, IBD or T1DM
470
Name the causes of malnutrition due to stunting
Poor socioeconomic conditioner
Poor maternal health
Frequent infections
Inappropriate feeding
471
Name the causes of malnutrition due to nutrition deficiencies
Poor diet
Parasitic infections
Organic: coeliac and IBD
472
Name the causes of malnutrition due to overnutrition
Excess energy consumption relative to energy expenditure
473
What are the 2 forms of protein-energy malnutrition?
Kwashiorkor
Marasmus
474
What is kwashiorkor?
Oedema and hepatomegaly due to low protein intake with adequate oral intake
475
What is marasmus?
Significant wasting due to low energy and protein intake
476
What is failure to thrive?
Insufficient weight gian or inappropriate growthin infants and children
Manifestation of underlying medical and social issues
477
What is Meckel's diverticulum?
Congenital diverticulum of the small intestine
478
What is the rule of 2's Meckel's diverticulum
2:1 M:F ratio
Typically 2 inches long
2 feet proximal to caecum2% of population
479
What is the most common cause of painless massive GI bleed in those between 1-2 yrs old
Meckel's diverticulum
480
What is infantile colic?
Very common and benign set of symptoms of unknown cause
481
What age is usually aggected by infantile colic?
<3 months old
482
What is a choledochal cyst?
Swelling/dilatation of the bile ducts
Usually common bile duct and hepatic ducts, rarely intrahepatic ducts
483
What is neonatal hepatitis?
Inflammation of live in newborns(1-2 mths post birth)
484
What is a hernia?
Protrusion of an internal organ through its containing wall(usually abdominal wall)
485
What are the types of hernias based on status of bowel?
Reducible hernia
Strangulated hernia
Incarcerated hernia
486
