paediatrics anki 2 Flashcards
(495 cards)
1
Q
In patients with androgen insensitivity syndrome why don’t female internal organs develop?
A
Testes produce anti-Mullerian hormone-> prevents males from developing upper vagina, uterus, cervix and fallopian tubes
2
Q
How would hormonal tests look in a patient with androgen insensitivity syndrome?
A
Raised LH
Normal/raised FSH
Normal/raised testosterone (for a male)
Raised oestrogen(for a male)
3
Q
How is androgen insensitivity syndrome managed?
A
Specialist MDT: paeds gynae, urology, endo, psych
Counselling-generally raised as female
Bilateral orchidectomy(avoid testicular tumours)
Oestrogen therapy
Vaginal dilators/surgery to create an adequate vaginal length
4
Q
Give some examples of learning disabilities
A
Down’s
ASD and aspergers
Williams
Fragile X
Global developmental delay
Cerebral palsy
5
Q
How do children with fragile X present?
A
Long thin face
Large protruding ears
Intellectual impariment
Macroorchidism
Social anxiety
ASD features
Mitral valve prolapse
6
Q
Name some differentials for fragile X
A
ASD(no physical characteristics)
Down’s
Turner’s
7
Q
How is Fragile X syndrome diagnosed?
A
Genetics-test number of CGC rpeats in FMR1 gen
eCan also be used to detect carriers
8
Q
How is Fragile X syndrome treated?
A
Behavioural therapy->manage social anxiety and ASD features
SALT for communication
Educational support
Medical management for physical complications
9
Q
Name some differential diagnoses for Kawasaki disease?
A
Scarlet fever-high fever, strawberry tongue and sandpaper red rash
Measles
Drug reactions
Juvenile rheumaotid arthritis
Toxic schock syndrome
10
Q
Describe the natural course of Kawasaki disease
A
Acute:
1-2 weeks
Child most unwell with fever, rash and lymphadenopathy
Subacute:
2-4 weeks
Acute sx settle, demasquation and risk of coronary artery aneurysms
Convalescent:
2-4 weeks
Remaining sx settle, coronary arteries may regress
11
Q
How is measles transmitted?
A
Via droplets from nose, mouth or throat of infected patient
12
Q
Describe the typical sequence of symptom onset in patients with measles
A
High fever >40 degrees
Coryzal symtpoms
Conjunctivitis
Koplik spots
Rash
13
Q
Name some differential diagnoses for measles
A
Rubella
Roseola
Scarlet fever
14
Q
How can rubella be differentiated from measles?
A
Rubella often milder and begins on face then spreads
Measles: Koplik spots
15
Q
How long after exposure to measles do symptoms develop?
A
10-14 days post exposure
16
Q
Name some complications of measles
A
Acute otitis media-most common complication
Pneumonia: most common cause of death
Encephalitis: typically 1-2 weeks after onset
17
Q
How is chicken pox spread?
A
Airborne-direct contact with rasj or breathign in particles form infected person’s cough/sneeze
Can be caught from someone with shingles
18
Q
How is chicken pox diagnosed?
A
Clinically
19
Q
How is rubella transmitted?
A
Through respiratory droplets
20
Q
How is rubella diagnosed?
A
Serology
rubella-specific IgM or rise in IgG in acute and convalescent serum samples
21
Q
How is rubella treated?
A
Supportive: antipyretics and analgesia
Isolate individuals to prevent spread, escpecially amongst unvaccinated pregnant women
22
Q
Name some complications of rubella
A
Arthritis
Thrombocytopenia
Encephalitis
Myocarditis
23
Q
How does diptheria damag the body?
A
Diptheria toxin commonly causes a ‘diptheric membrane’ on tonsils cuased by necrotic mucosal cells
System distribution can produce necrosis of myocardial, neural and renal tissue
24
Q
How might a patient with diphtheria present?
A
Recent visitor to Eastern europe/russia/asia
Thick, grey white coating on back of throat and tongue
Fever
Sore throat with ‘diphtheric membrane
‘Bulky cervical lymphadenopathy
Neuritis
Heart block
25
How is a patient diagnosed with diphtheria?
Culture of throat swab-Use tellurite or Loeffler's media
26
How is diphtheria managed?
Intramuscular penicillin
Diphtheria antitoxin
27
How can scalded skin syndrome be differentiated from toxic epidermal necrolysis(TEN)?
Scalded skin syndrome: oral mucosa usually unaffected
28
Name some differential diagnoses for scalded skin syndrome
Toxic Epidermal Necrolysis (TEN): manifests with widespread erythema and necrosis, leading to detachment of the epidermis. It involves mucous membranes, which differentiates it from SSS
S Pemphigus vulgaris: characterised by flaccid blisters and erosions on the skin and mucous membranes; Nikolsky sign is also positive
Bullous Impetigo: typically presents with localized bullae filled with pus, often with surrounding erythema and tenderness
29
How is scalded skin syndrome diagnosed?
Usually clinical
Biopsy can help differentiate from TEN
Cultures: presence of S aureus
30
How is scalded skin syndrome treated?
IV antibiotics: flucloxacillin-inhibits toxin synthesis
Supportive: fluid replacement and pain management
Wound care to prevent secondary infections
31
How does flucloxacillin treat scalded skin syndrome?
Prevents toxin synthesis
32
How do patients with whooping ocugh present?
Spasmodic coughing with a prolonged duration per episode
Inspiratory whooping sound
Rhinorrhoea
Post-tussive vomiting
Apnoeas, especially in infants
33
Name some consequences of persistent coughing in patient with whooping cough
May develop subconjunctival haemorrhages or anoxia leading to syncope or seizures
34
How do infants with whooping cough often present?
Apnoeas
35
How is whooping cough managed?
<6 months: admit
Oral macrolide: clarithromycin, azithromycin etc if cough onset within 21 days
Notify public health
Antibiotic prophylaxis to household contacts
Off school 48hr post abx/21 days from onset of sx
36
How do macroldies help patients with whooping cough?
Don't alter disease course, byt may alleviate symptoms and minimise transmission
37
Name 4 enteroviruses
Coxsackie A
Coxsackie B
Poliovirus
Echorviruses
38
How do enteroviruses spread?
Faeco-oral or droplet transmission
39
How do patients with polio present?
Most commonly asymptomatic
Minor: flu-like, pain, fever fatigure, headache, vomiting
Major: Acute flaccid paralysis-> bulbar paralysis
40
How is polio diagnosed?
Clinical
Lab: stool, throat swab, CSF analysis
41
How is polio managed?
No cure
Supportive: pain relief, ventilation if breathing difficulties etc
Physio: in cases of paralytic polio
Preventative: vaccination
42
Name some complications of polio
Paralysis, disability and deformities
Respiratory issues: from bulbar polio
Post-polio syndrome: years after initial infection-> muscle weakness, fatigue and pain in previously affected muscles
43
Name osme viral causes of meningitis
Enteroviruses
HSV
HIV
44
Describe the typical presentation of a child with fifth disease
Prodrome of mild fever, coryza, diarrhoea
Characteristic bright red rash on cheeks after a few days-can spread to rest of body but rarely involved palms and soles-peaks after a week then fades
45
How is fifth's disease spread
Via respiratory route
46
name some differentials for fifths disease
Rubella: presents with a similar rash, but also includes lymphadenopathy and conjunctivitis
Scarlet fever: presents with a similar rash, but also includes a sore throat and a 'strawberry' tongue
Roseola: presents with a high fever followed by a rash, but the rash is typically non-pruritic and pink in colour
47
How is fifth's disease diagnosed?
Usually clinical
Atypical: serological testing for Parvovirus B19
FBC: low reticuloycte
48
How is pneumonia manged?
At home: analgesia, rest, fluids etc
Hospital: IV fluids and oxygen and antibiotics
49
How is pneumonia in neonates managed?
IV fluids
Oxygen
Broad spectrum antibiotics
50
How is pneumonia in infants managed?
IV fluids
Oxygen
Amoxcicillin/co-amoxiclav if severe
51
How is pneumonia in children aged >5 years managed?
IV fluids
Oxygen
Amoxicillin/erythromycin
52
Name a complication of pneumonia in children
Parapenumonic collapse and empyema
53
How do patients with asthma typically present?
Episodic wheeze that is persistent most days and night
Dry cough
SOB
Symptoms worse at night and early morning
Symptoms have trriggers: exercise, pets, dust, cold air, laughing
Interval symptoms
54
How would you describe a wheeze to a parent?
Whistling in chest when your child breathes out
55
Name some respiratory failure red flags
Drowsiness
Cyanosis
Laboured breathing
Lethargy
Tachycardia
Use of accessory muscles
56
Name some important features to assessing a child presenting with a wheeze
Fever
Weight loss
Apnoea
LOC
CYanosis
O2
Hepatomegaly
Breathing: too breathless to feed, hyperinflation/recession, use of accessory muscles, nasal falring, auscultation/percussion
Heart rate >160bpm
Murmur?
57
Name some causes of a wheeze in children
Asthma
Bronchiolitis
Penumonia
Transient early wheezing
Non atopic wheezing
Cardiac failure
Inhaled foreign body
Aspiration of feeds
Cystic fibrosis
Congenital abnormality of lung, airway and heart
58
How is moderate acute asthma treated?
SABA via spacer, 2-4 puffs
Consider oral prednisolone
Reassure
59
How long do symptoms of croup typically last?
48 hours to 1 week
60
Name some complications of croup
Airway obstruction-> trachea intubation
Otitis media
Dehydration form decreased fluid intake
Superinfection resulting in pneumonia
61
How might a patient with bacterial tracheitis present?
High fever
Toxic
Rapidly progressing into airway obstruction and thick airway secretions
62
How common is bronchiolitis?
Most common serious respiratory infection of infancy
63
Name some causes of bronchiolitis and which is the most common?
RSV-80% of cases
Parainfluenza. rhinovirus, adenovirus, mycoplasma pneumoniae
64
Name some risk factors for bronchiolitis
Breastfeeding for <2 months
Older siblings at nursery/school
Smoke exposure
Chronic lung disease of prematurity
65
How is bronchiolitis diagnosed?
Most clinical
Nasopharyngeal aspirate for RSV culture
CXR
If severe: blood gas analysis, continurous O2 monitoring
66
Name a risk factor for developing bronchiolitis obliterans
Lung transplant recipients
67
If both parents carry the gene for cystic fibrosis, what are the chances the child will have CF?
25%
68
If both parents carry the gene for cystic fibrosis, what are the chances the child will be a carrier?
50%
69
If both parents carry the gene for cystic fibrosis, what are the chances the child won't have CF or be a carrier?
25%
70
If 1/25 people in UK have CF mutation, what are the cahnces of having a child with CF?
1/2500
1/25 x 1/25 x 1/4
71
How do neonates with cystic fibrosis typically present?
Meconium ileus due to viscous meconium
Failure to thrive
72
How do infants and toddlers with CF typically present?
Salty sweat
Faltering growth
Chest infection
Malabsorption
73
How do older children with CF present?
Delayed onset of puberty
Chest infections
Malabsorption
74
How is CF diagnosed?
Screening: neonatal blood spot test: high immunoreactive trypsinogen
Sweat test: high chloride
Genetic testing
75
How is CF managed?
Daily chest physio to clear mucus and prevent pneumonia
Prophylactic antibiotics, bronchodilators and meds to thin secretions
Regular immunisations-> influenza, penumococcla vaccines
Pancreatic enzyme replacement(Creon) and fat soluble vitamin supplementation (ADEK)
Bilateral lung transplant in end stage pulmonary disease
76
Name some complications of cystic fibrosis
Malabsorption and diabetes due to decreased pancreatic enzyme function
Liver failure
Chest infections-> pneumothoraz and life threatening haemoptysis
77
How does CF cause liver failure?
Mucus blocks bile ducts-> bile can't leave liver
78
How common is acute epiglottitis?
Rare now due to HiB vaccine
79
How do patients with acute epiglottitis present?
Rapid onset and increase in respiratory difficulties
High fever, generally very unwell/toxic
Minimal/absent cough
Soft inspiratory stridorIntesne throat pain
DROOLING
TRIPOD POSITION->leant forward, extending neck, open mouth
80
Name some differentials for acute epiglottitis
Croup
Peritonsillar abscess
Bacterial tracheitis
81
How do patients with a viral induced wheeze present?
Viral illness for 1-2 days preceding onset
SOB
Signs of respiratory distress
Expiratory wheeze throughout the chest
82
How is multiple trigger wheeze treated?
Trial ICS/LTRA for 4-8 weeks
83
How do patients with otitis media typically present?
Otalgia(ear pain)
Fever
Hearing loss
Recent URTI symptoms
Discharge
84
Name some differential diagnoses for otitis media?
URTI
Mastoiditis
Otitis externa
Foreign body
85
How is otitis media managed?
Self-resolving: usually no antibiotics needed, simple analgesia
If no improvement after 3 days: can start antibiotics
In severe cases admit to hospital and antibiotics
86
Name some complications of otitis media
Chronic OM
Tympanic membrane perforation
Meningitis
Mastoiditis
Facial nerve palsy
Labyrinthitis
87
How can otitis media be prevented?
Avoid passive smoking
Avoid flat/supine feeding
88
How do patients with glue ear typically present?
Hearing loss in affected ear
89
How is glue ear diagnosed?
Otoscopy-> dull tympanic membrane with air bubbles or visible fluid level(can look normal), retracted eardrum
90
Name some of the risk factors for periorbital cellulitis
Male
Previous sinus infection
Recent eyelid injury
91
How do patients with periorbital cellulitis present?
Acute onset of red, swollen, painful eye, fever
Eryhtema and oedema of eyelids-> can spread to surrounding skin
Partial/complete ptosis of eye due to swelling
Orbital signs ABSENT(no pain/restriction on movement, proptosis, chemosis etc)
92
Name some differentials for periorbital cellulitis
Orbital cellulitis
Allergic reactions
93
How is periorbital cellulitis managed?
Referral to secondary care assessment
Oral antibiotics usually enough->empirical co-amoxiclav/cefotaxime
May require admission for observation
94
Name some causes of a squint
Idiopathic-most common
Hydrocephalus
Cerebral palsy
Space occupying lesion(retinoblastoma)
Trauma
95
Name some differential diagnoses for impetigo?
Eczema herpeticum
HSV infection
Contact dermatitis
Ringworm
96
How is impetigo diagnosed?
Usually clinically
Skin swab for mc+s in certain cases like recurrent infections or treatment resistant cases
97
Name some complications of impetigo
Sepsis
Glomerulonephritis
Deeper soft tissue infection-cellulitis
Scarring
Post strep glomerulonephritis
Scarlet fever
Staphyloccocus scalded skin syndrome
98
Name some differentials for toxic shock syndrome
Meningococcal scepticaemia
Stevens-Johnson syndrome
Kawasaki disease
99
How is suspected toxic shock syndrome investigated?
Sepsis 6
Throat/wound swabs
100
How is scarlet fever spread?
Via respiratory route-> inhaling or ingesting droplets or direct contact with nose and throat discharge
101
How is scarlet fever diagnosed?
Throat swab
DONT wait for results to start antibiotic treatment
102
Describe the treament of scarlet fever
Oral phenoxymethylpenicillin for 10 days
Azithromycin for penicillin allergy
notifiable disease-report to public health
Keep off school
103
How long do patients with scarlet fever need to stay off school?
Until 24 hours after commencing antibiotics
104
Name some complications of scarlet fever
Rheumatic fever
Post strep glomerulonephritis
Otitis media-most common
Invasive complications-meningitis, bactaraemia etc
105
How does the ductus venosus close?
Immediately after birth-> umbilical cord clamped and no blood flow->closes and becomes ligamentim venosum
106
How does the ductus arteriosus close?
Prostalgandins usually keep it open
Increased blood oxygenation-> drop in circulating prostaglandins->closes
Becomes ligamentum arteriosum
107
How does the foramen ovale close?
First breath->alveoli expand-> decrease pulmonary resistance in right atrium
Left atrial pressure->right atrial pressure->squashes septum and closesSealed shut after a few weeks-> fossa ovalis
108
Name some differentials for an ejection-systolic murmur
Aortic stenosis
Pulmonary stenosis
Hypertrophic obstructive cardiomyopathy
109
Name some causes/risk factors for a patent ductus arteriosus(PDA)
Genetics/related to rubella
Prematurity
110
How might a patent ductus arterious present in a newborn?
Incidentally in neworn exam with murmur
SOB
Difficulty feeding
Poor weight gain
Lower respiratory tract infections
111
In patients with a PDA that don;t present in childhood, how might they present in adulthood?
With heart failure later in life
112
How is a PDA diagnosed?
Echo
Left to right shunt
Hypertrophy of right, left or both ventricles
113
How are patients with PDA's managed?
Often close soon after birth
Indomethacin/ibuprofen-inhibits prostaglanding synthesis so closes connection
If other CHD that needs surgery-> prostaglandin E1 to keep duct open until after surgical repair
114
How do NSAIDS work to treat PDA's?
Inhibit prostaglandin synthesis (helps maintain ductal patency)
115
How might a patient with an atrial septal defect present?
Childhood:
SOB
Difficulty feeding
Poor weight gain
Lower respiratory tract infections
Asymptomatic->antenatal scans
Adulthood:
Dsypnoea
Heart failure
Stroke
116
How are atrial septal defects managed
Small: watch and wait
Surgery: transvenous catheter closure or open heart surgery
Medical: anticoagulants like aspiring, warfirin and NOACs
117
How are patients with critical coarctation of the aorta managed at birth?
Prostaglandin E used to keep ductus arteriosus open while waiting for surgery
Surgery to correct coarctation and ligate ductus arteriosus
118
How are VSDs diagnosed?
Typically through antenatal scans or newborn baby check
Can be asymptomatic and present later in life
119
How are VSD's managed?
Small and asx: watch and wait, may close spontaneously
Surgically: transvenous catheter closure via femoral vein or open heart surgery
120
How does the VSD contribute to the tetralogy of fallot?
Blood can flow between ventricles
121
How does the overriding aorta contribute to tetralogy of fallot?
When right ventricle contracts, aorta is in direction of travel of that blood, greated proportion of deoxygentated blood enters aorta
122
How does stenosis of the pulmonary valve contribute to tetralogy of fallot?
Greater resistance against flow of blood from right ventricle
Blood flows through VSD and into aorta instead of pulmonary vessels
Due to overriding aorta and pulmonary stenosis-> blood is shunted from right to left->cyanosis
123
How can positional changes improve circulation in tet spells?
Older children: squat
Younger children: Bring knees to chest
Increases systemic vascular resistance so encourages blood to enter pulmonary vessels
124
How is tetralogy of fallot managed in neonates?
Prostaglandin infusion to maintain ductus arteriosus: allows blood to flow from aorta back to pulmonary arteries
Total surgical repair-mortality around 5%
125
How does sodium bicarbonate help treat a tet spell?
Buffers any metbaolic acidosis
126
How is transposition of the great arteries diagnosed?
Fetal US-most are picked up antenatally
Echo
CXR-egg on side
127
Describe the treatment of transposition of the great arteries
Prostaglandin E infusion-maintain ductus arteriosus
Balloon septostomy
Definitive: open heart surgery using bypass-arterial switch
128
How is Ebstein's anomaly treated?
Treat arrhythmias and heart failure
Prophylactic antibiotics to prevent infective endocarditis
Surgical correction: definitive
129
How is congenital aortic valve stenosis diagnosed and monitored?
Echo: GS
Monitoring: echo, ECG, exercise testing
130
Desrcibe the treatment for congenital aortic valve stenosis
Percutaneous balloon aortic valvoplasty
Surgical aortic valvotomy
Valve replacement
131
Name some complications that can aride from congenital aortic valve stenosis
Left ventricular outflow tract obstruction
Heart failure
Ventricular arrhythmia
Bacterial endocarditis
Sudden death-on exertion
132
How is congenital pulmonary valve stenosis diagnosed?
Echo
133
Name some possible causes of nocturnal enuresis
Diabetes-> excessive urination
UTI's->urgency/frequency
Constipation->compressess bladder
134
How can haemolytic uraemic syndrome be classified?
Secondary/typical
Primary/atypical
135
Name a differential diagnosis for haemolytic uraemic syndrome and explain how they can be dfferentiated?
Thrombotic thrombocytopenic purpura(TTP)
TTP will include symptoms of fever and neurological changes
136
How is typical haemolytic anaemia managed?
Supportive-> fluids, blood transfusions and dialysis if needed
NO antibiotics
137
How is atypical haemolytic uraemic syndrome managed?
Referral to specialist
Treatment with eculizumab(monoclonal antibody)
Plasma exchange may be used in severe cases with no diarrhoea
NO antibiotics
138
How does eculizumab treat haemolytic uraemic syndrome?
Monoclonal antibody-> inhibits the terminal complement pathway
139
How should urine samples be collected in children with a suspected UTI?
Clean catch
Non contaminated collection pad/catheter sample/suprapubic aspiration
140
Name some complications of a UTI
Renal scarring and CKD
Sepsis
141
How does vesicoureteric reflux result in recurrent UTI's?
Backwards flow carries bacteria up to the kidneys
142
Give 3 causes of a vesicoureteric reflux
Shortened intravesical ureter
Impoperly functioning valve where ureter joins bladder
Neurological disorder affecting the bladder
143
Name some complicaiton of vesicoureteric reflux
Recurrent UTI's
Pyelonephritis
Renal scarring and UTI's
Hypertension
144
Describe the grading of vesicoureteric reflux
Grade 1: Incomplete filling upper urinary tract without dilatation
Grade 2: Complete filling +/- slight dilatation
Grade 3: Balloomed calyces
Grade 4: Megaureter
Grade 5: + hydronephrosis
145
Name some conditions Wilms' tumour is associated with
Beckwith-Wiedemann syndrome
WAGR syndrome(Wilms', aniridia, GU anomalies, mental retardation)
Denys-Drash syndrome: WT1 gene on CH 11
146
Name some differential diagnoses for a Wilms' tumour
Neuroblastoma
Mesoblastic nephroma
Renal cell carcinoma->rare in children
147
Name one poor prognostic factor in a patients with Wilms' tumour
Associations with other genetic conditions
148
Name some risk factors for cryptorchidism
Family history
Small for gestational age
Prematurity
Low brith weight
Maternal smoking in pregnancy
149
Name some conditions associated with cryptorchidism
Cerebral palsy
Wilms' tumour
Abdominal wall defects
150
How is cryptorchidism diagnosed?
Cinical-physical exam in a supine position
151
How might a patient with cryptorchidism present?
Malpositioned/absent testes/testis
Palpable cryptorchid testis(unable to be pulled into scrotum/returns to higher position after pulling)
Non-palpable testis
Testicular asymmetry/scrotal hyperplasia
152
Name some differential diagnoses for cryptorchidism
Rretractile testis
Intersex conditions
153
How would a teenager presenting with cryptorchidism be managed?
Orchidectomy
Due to a higher risk of malignancy-Sertoli cells degrade after 2 years
154
Name some complications of hypospadias
Difficulty directing urination
Cosmetic and psychological reasons
Sexual dysfunction
155
Name some complications of phimosis/paraphimosis
Recurrent balanoposthitis/UTI's
Venous congestion, oedema and ischaemia of glans penis
156
Name some primary causes of nephrotic syndrome
Minimal change disease
Focal segmental glomerulonephropathy
Membranous nephropathy
157
How does nephrotic syndrome result in an increased risk of thrombosis?
Decreased antithrombin 3, proteins c+s and increase in fibrinogen
158
How doe nephrotic syndrome result in lower thyroxine?
Decreased thyroxine binding globulin-> lowers total(not free) thyroxine
159
Name some complications of nephrotic syndrome
Hypovolaemia->oedema and hypotension
Thrombosis->kiedney leak clotting factorsInfection-> kidenys leak Ig's and steroid use
Acute/renal failure
160
Name 2 drugs that can cause minimal change disease
NSAIDs
Rifampicin
161
Name some causes of nephritic syndrome
AI:
SLE or Henoch Schonlein purpura
Infections:
post strep
Goodpasture's disease
IgA nephropathy(Berger's)
Rapidly progressing glomerulonephritis
Membranoproliferative glomerulonpehritis
162
Describe the typical presentation of a patient with IgA nephropathy
Gross/microscopic haematuria occuring 12-72 hours after an URTI or GI infection
Mild proteinuria
Hypertension
163
Name some differential diagnoses for IgA nephropathy
Post strep glomerulonephritis(weeks post infection not days, IgA deposition)
Henoch Schonlein purpura-> same except systemic IgA complex deposition instead of just kidneys
164
Name some markers of good prognosis and poorer prognosis of patient with IgA nephropathy
Good: frank haematuria
Poor: male, proteinuria, hypertension, smoking, hyperlipidaemia
165
Name some differential diagnoses for post strep glomerulonephritis
IgA nephropathy
166
Name a complication of post strep glomerulonephritis
CKD
Rapidly progressing glomerulonephritis
167
Goodpastures disease: symptoms, cause,and treatment
Symptoms: pulmonary and alveoli haemorrhage
Cause: Anti-GBM antibody deposition
Treatment: Steroids and plasma exchange
168
Name some causes of rapidly progressinve glomerulonephritis
Goodpasture's
IgA nephropathy
Henoch Schonlein Purpura
Lupus nephritis
Wegener's granulomatosis
169
Describe the treatment of rapidly progressive GN
Corticosteroids and cyclophosphamide->induce remission
Plasmapharesis->anti GBM disease and severe ANCA associated vasculitis
Supportive: BP control, diet changes, manage fluid overload/electrolyte imbalances
Renal replacement therapy may be required
170
How can hypogonadism be classified?
Primary: testicular failure
Secondary: hypothalamic or pituitary disorders
171
Give some examples of primary hypogonadism
Klinefelter syndrome
Orchitis
Testicular trauma/torsion
Chemo/radioation
172
Give some examples of secondary hypogonadism
Kallmannm syndrome
Pituitary adenomas
Hyperprolactinoma
Anorexia
Opioid use
Glucocorticoid use
HIV/AIDS
Haemochromatosis
173
Name some differential diagnoses for hypogonadism
Depression
Thyroid disorders
CFS
174
How might hormone levels seem different in those with Klinefelter syndrome?
Elevated gonadotrophin levels(FSH, LH etc)
Low testosterone
175
How is Klinefelter diagnosed?
Karyotyping-chromosomal analysis
Hormones will also show high gonadotrophin levels and low testosterone
176
Describe the treatment of Klinefelter syndrome
Testosterone injections-improve many symptoms
Advanced IVF techniques-> fertility options
Breast reduction for cosmesis
MDT input: SALT, OT, physio, educational support
177
How is Turner's syndrome diagnosed?
Pre-natally: amniocentesis or chorionic villus sampling(CVS)
Definitive: karyotyping after birth
178
Give some features of Down's syndrome that aren't on the face
Hypotonia
Pronounced sandal gap
Learning difficulties
Short stature
Congenital heart defects
duodenal atresia
Hirschsprung's disease
179
Name some cardiac complications of Down's sydnrome
Endocardial cushion defect
VSD(30%)
Secundum atrial septul defect
Tetralogy of fallot
Isolated PDA
180
Name some later complications of Down's syndrome
Subfertility
Learning difficultires
ALL
Alzheimer's
Repeated respiratory infections
Antlantoaxial instability-avoid trampolines
Hypothyroidism
Visual problems: myopia, strabismus, cataracts
181
How can Down's syndrome be diagnosed?
Antenatal screening: between 10-14 weeks
Combined test: 10-14 weeks: US and maternal bloods
Triple test: 14-20 weeks: maternal blood tests
Quadruple test: 14-20 weeks
182
Give some examples of muscular dystrophies
Duchenne muscular dystrophy
Beckers muscular dystrophy
Myotonic musclar dystrophy
183
If a mother is a carrier for Duchenne muscular dystrophy and has a child, what it the likelihood that the child will be a carrier or have the condition?
If female: 50% chance of being a carrier
If male: 50% chance of having condiiton
184
How is Duchenne muscular dystrophy managed?
Mostly supportive
Oral steroids can slow the progression of muscle weakness
Creatine supplementation can slightly improve muscle stength
185
How is Becker's muscular dystrophy different to duchenne muscular dystrophy?
Dystrophiin gene less severely affected and maintains some function, symptoms appear later(8-12 years), some patients need wheelchairs in late 20s/30s, others can walk into adulthood
186
How is William's syndrome diagnosed?
FISH studies(fluorescence in situ hybridization)
187
Desrcibe the epidemiology of rickets
More common in regions of asia and Africa
Asia: lack of sunlight and low vegetable and meat diets
Africa: darker skin pigmentation and reduced vitamin D synthesis
188
Name some predisposing features to rickets
Dietary deficiency of calcium, e.g. in developing countries
Prolonged breastfeeding
Unsupplemented cow's milk formula
Lack of sunlight
189
Name some differential diagnoses for transient synovitis
Septic arthritis
Ostemyelitis
190
How is transient synovitis diagnosed?
Often clinical diagnosis
Normal basic observations
Normal blood tests with no raised WCC or inflammatory markers
USS: may show effusion, X-ray normal
Joint aspirate: if done should be no bacteria present
191
How cam mosteomyelitis be classified?
Haematogenous spread: commonly occurs in children, spreads from elsewhere(bactaraemia)
Non-haematogneous spread: spreads from adjacent soft tissues/from firect injury/trauma to bone
192
Name some risk factors for haematogenous osteomyelitis
Sickle cell anaemia
IVDU
Immunosuppresion
Infective endocarditis
193
Name some differentials for osteomyelitis
Septic arthritis
Ewing sarcoma
Cellulitis
Gout
194
Name some risk factors for developing septic arthritis?
Pre-existing joint diseases like rheumatoid arthritis
CKD
Immunosuppresive states
Prosthetic joints
195
Name some complications of septic arthritis
Osteomyelitis
Chronic arthritis
Ankylosis
196
Name some differential diagnoses fro Perthes' disease
Transient synovitis
Septic arthritis
SUFE
JIA
197
Name 2 complications of Perthes' disease
Osteoarthritis
Premature fusion of the growth plates
198
How does the femoral head get displaced in Slipped Upper Femoral Epiphysis
Displaced posterio-inferiorly
199
Name some differentials for the diagnosis of slipped upper femoral epiphysis
Osteoarthritis
Hip fracture
Specit arthritis
200
How is slipped upper femoral epiphysis diagnosed?
AP and lateral(typically frog leg) views are diagnostic: shortened, displaced epiphysis and widened growth plate
Normal blood tests: exclude other causes of joint pain
Technetium bone scam CT, MRI
201
Name some complications of slipped upper femoral epiphysis
Osteoarthritis
Avascular necrosis of the femoral head
Chrondrolysis
Leg length discrepancy
202
How is osgood schlatter diagnosed?
Moslty clinical
Imaging may be used to rule out other conditions or if symptoms persist
203
How is osgood schlatter managed?
Pain control with analgesics and modification of physical activities
NSAIDs for short term relief
Physio; strengthening and stretching exercises for quadriceps or hamstring muscles
If severe: knee brace or cast
204
Name one complication of osgood schlatter
Complete avulsion fracture
Tibial tuberosity is separated from the rest of the tibia-> requires surgical intervention
205
Name some risk factors for developing developmental dysplasia of the hip
5F's
Female(6 times mroe likely)
Firstborn
Family history
Frank breech presentation(buttocks or feet first in the womb)
Fluid(oligohydramnios)
206
How might infants with developmental dysplasia of the hip present?
Limited hip abduction, especially in flexion
Asymmetry of gluteal and thigh skinfold
Apparent limb length discrepancy
207
How might older children with developmental dysplasia of the hip present?
Walking difficulties/limp
Delayed walking
Waddling gait in bilateral cases
208
How is developmental dysplasia of the hips diagnosed?
USS of hips
>4.5 months then x-ray
209
Name a complication of Still's disease
Macrophage activation syndrome(MAS)
Severe activation of the immune system with a massive inflammatory response
210
How might a patient with macrophage activation syndrome present?
Systemically unwell
DIC
Anaemia
Thrombocytopenia
Bleeding
Non-blanching rash
Life-threatening
211
Name some non-infective differentials for a child wiith a fever for >5 days
Still's disease
Kawasaki disease
Rheumatic fever
Leukaemia
212
How is enthesitis diagnosed?
MRI scan-cannot differentiate cause thoguh
213
Name some complications of juvenile idiopathic arthritis
Flexion fractures: PT and splinting
Joint destruction: may need prosthesis
Growth failure: chronic disease and steroid use
Anterior uveitis: visual impairment
214
How is torticollis diagnosed?
Clinically history and exam-distinguish mechanical vs neuropathic pain
215
Name some differential diagnoses for torticollis
Acute disc prolapse
Tonsillitis
Cervical lymphadenopathy
C spine injury
Neurological disorders leading to dystonia
216
Name some redf lag symoptoms in a patient with likely torticollis
Neurological symptoms/signs
Malaise, fever, weight loss, unremitting pain affecting sleep
Hx of violent trauma, neck surgery or risk factors for osteoporosis
217
Name some risk factors for adolescent idiopathic arthritis
Positive family history
Peak adolescent growth spurt
218
How is scoliosis diagnosed?
Clincal exam
Standing x-rays
MRI considered
219
How is discoid meniscus diagnosed?
MRI
220
Name one risk factor for AML
Ionising radiation
221
Name some poor progmostic factors for AML
>60 years
>20% blasts after course of chemo
Cytogenetics: deletions of chromosome 5 or 7
222
How is AML diagnosed?
Bloods: leukocystosis
Blood film: blast cells
Bone marrow biopsy: Auer rods
223
How is AML treated?
Chemo and targeted therapy
Radiotherapy
Bone marrow transplant
Surgery
224
Name some complications of chemotherapy
Failure to treat caancer
Stunted growth and developmetn in children
Infections
Neurotoxicity
Infertility
Secondary malignancy
Cardiotoxicity
Tumour lysis syndrome
225
Name 3 non-blanching lesions and how to differentiate between them
Petechiae: <3mm-caused by burst capillaries
Purpura: 3-10mm
Ecchymosis: >10mm
226
Name some differentials for a non-blanching rash
Leukaemia
Meningococcal scepticaemia
Vasculitis
HSP
ITP
TTP
Traumatic or mechanical(e.g. severe vomiting)
Non-accidental injury
227
How can CML present?
Systemic: weight looss, tiredness, fever, night sweats
SplenomegalyB
leeding
Gout
Hyperleukocytosis: visual disturbance, confusion, priapism, deafness
228
How is CML diagnosed?
Bloods: leukocytosis (particularly raised myeloid cells), anaemia
Bone marrow testing
Genetics: Philadelphia chromosome
229
How is ALL diagnosed?
Leukocytosis on FBC
Blood film and bone marrow: blast cells
Immunophenotyping: differentiate if origin is B or T cell
230
Name some poor prognostic factors for ALL
Age <1yr or >10 years
WCC: >20*10^9CNS disease
Non-caucasian
Male
231
How is CLL diagnosed?
Blood: lymphocytosis, aanaemia, thrombocytopenia
Blood film: Smudge cells(ruptured WBC's)
Immunophenotyping: CD5,19,20,23
232
Name some complications of CLL
Richter's transformation
Anaemia
Hypogamaglobulinaemia-> recurrent infections
Warm AI heamolytic anaemia
233
Give aan example of a genetic condition that can predispose a chidl to brain tumours
Neurofibromatosis
234
Name some differential diagnoses for a paediatric brain tumour
Migraine
Intracranial hypertension
Epilepsy
Meningitis
235
How is a medulloblastoma treated?
Surgical resection and chemo
236
Name some differential diagnoses for pyloric stenosis
Gastroenteritis
GERD
Infantile colic
237
Name a differential diagnosis for mesenteric adenitis
Appendicitis
-Higher grade fever
-Loss of appetite
-Nausea and vomiting
-Elevated WCC
-Focal pain in RLQ
238
How is mesenteric adenitis managed?
Usually self limiting-observation and reassurance
Careful safety netting
Surgical: not usually advised, may be needed if appendicitis can't definitively be ruled out
239
Name some differential diangoses for an intussusception
Gastroenteritis
Appendicitis
Volvulus
Meckel's diverticulum
240
How is intussusception diagnosed?
Abdominal USS: 'target sign'
Can reveal complications
241
How does intestinal malrotation present?
Bilious vomiting, often on the first day of life(with volvulus)
242
Name some differentials for a patient wtih intestinal malrotation
GERD
Pyloric stenosis
Duodenal atresia
Intestinal obstruction
243
How is malrotation diagnosed?
Upper GI contrast study-reveals obstruction point as no contrast will be able to pass
USS
Proximal bowel: corckscrew appearance
244
How is intestinal malrotation managed?
Laparotomy
If volvulus present: Ladd's procedure(includes division of Ladd bands and widening of base of mesentery
Relieve obstruction and correct congenital abnormality
245
Name some risk factors for GORD
Preterm delivery
Neurological disorders
246
Name some red flag symptoms in a child with suspected GORD
Not keeping down feed(pylroic stenosis/obstruciton)
Projectile vomiting
Haematemesis
Abdominal sdistention
Reduced consciousness, bulging fontanelle or neuro signs
Signs of infection
Rash, angioedema, allergic signs
Respiratory symptoms including apneoas
247
Name some complications for GORD
Distress
Failure to thrive
Aspiraiton
Frequent otitis media
Older children: dental erosion
248
If severe complicaiotns and medical treatment is ineffective, what might be considered for a patient with GORD?
Fundoplication
249
Describe what might be found on examination of a patient with appendicitis
Systemic: pyrexia and tachycardiaLocalised tenderness and guarding in RIF
Tenderness over McBurney's point(1/3 frmo ASIS to umbilicus)
Rovsing's sign: RIF pain with palpation of left iliac fossa
Also psoas or obturator sign
250
Name some complications of appendicitis
Local abscess formation
Perforation
Gangrene
Postoperative wound infection
Peritonitis
251
How does appendicitis often present in patients under 4 years olf
More likely to be atypical and present with perforation
252
Name some complications of biliary atresia?
Unsuccessful anastamosis
Progressive liver diease
Cirrhosis with HCC
253
Name some differentials for a febrile convulsion
Meningitis
Encephalitis
Electrolyte imbalances causing seizures
Epilepsy
254
How are febrile convulsions managed?
If first seizure: admit
Source of fever identified and treated if necessary
Parental educations: appropriate use of antipyretics, don't sponge child to cool down
Phone ambulance in future if seizure lasts >5 minutes
If recurrent: benzos may be considered-only on advice of specialist(rectal diazepam or buccal midazolam
255
Name some causes of encopresis
Spina bifida
Hirschprung's
Cerebral palsy
Learning disability
256
How might children with constipation present?
<3 stools/week
Hard stool that are difficult to pass
Rabbit dropping stools
Abdominal pain
Straining resulting in rectal bleeding
Overflow diarrhoea
257
Name some red flags for constipation in children
Not passing meconium within 48hrs of brith(CF/hisrschprung's)
Neuro signs
Ribbon stool
Vomiting
Abnormal anus/lower back/buttocks
FTT
Acute severe abdo pain and bloating
258
Name some complicaitons of constipation in children
Pain
Decreased sensation
Anal fissures
Haemorrhoids
Overflow soiling
Psychosocial morbidity
259
Name some risk factors for developing cerebral palsy
Preterm birth
Low birth weight
Multiple birth
Congenital malformations
260
Name some causes of cerebral palsy
Antenatal:
cerebral malformation
congenital infection(rubells, toxoplamsosis, CMV)
maternal alcohol/smoking use
Maternal thrombotic disorders
(factor 5 leiden)
Intrapartum:
Birth asphyxia
Trauma
Postnatal:
Intraventricular haemorrhage
Meningitis
Head trauma
Hypoglycaemia
Neonatal sepsis and encephalopathy
261
Name some general symptoms of cerebral palsy
Wide variety-delays in reaching developmental milestones, altered tone and weakness
Hand dominance before 18 months
Feeding difficulties
Abdnormal gait
262
Name some associated non-motor symptoms of cerebral palsy
Learning difficulties
Epilepsy
Squints
Hearing impairment
GORD
263
Name some differentials for cerebral palsy
Muscular dystrophies
Metabolic disorders
Hereditary spastic paraplegia
JIA
264
Name some complications of cerebral palsy
Recurrent chest infections->aspiration pneumonias from feeding difficulties
Chornic constipation/incontinence
Visual/hearing impairment
Epilepsy
Behavioural and emotional difficulties
Contractions
GERD
265
Name some differentials for haemolytic disease of the newborn
Spherocytosis
G6PD deficiency
Thalassaemia
266
Howw is haemolytic disease of the newborn managed?
Intrauterine transfusions if severe anaemia detected in fetus
Early delivery if severe
Postnatal: phototherapy, exchange transfusion to manage high bilirubinImmunoglobulin administration to newborn to prevent further haemolysis
Regular follow up to assess for developmetnal issues
267
Name some complications of haemolytic disease of the newborn
Unborn:
Fetal heart failure
Fetal hydrops: fluid retention and swelling
Stillbirth
Newborn:Kernicterus->hearing loss, blindness, vision loss, brain damage, learning difficulties, death
268
Name a complication of a cephalohaematoma
Jaundice
269
How should chest compressions be carried out in children?
100-120/min for children and infants
Depth: at least 1/3 depth of chest(4cm infant, 5cm for child)
Children: lower half of sternum
Infants: 2 thumb encircling technique/2 fingers from one hand
270
Name some causes of acute respiratory distress syndrome
Infection: sepsis, pneumonia
Major trauma
Aspiration
Pancreatitis
Fat embolism
Drowning
Burns
DIC
Transfusion reactions
271
Name some differentials for acute respiratory distress syndrome
Cardiogenic pulmonary oedema
Covid
Bilateral penumonia
Diffuse alveolar haemorrhage
272
How is acute respiratory distress syndrome diagnosed/investigated?
CXR: bilateral alveolar infiltrates without other features of heart failure
Arterial blood gases: severity of hypoxemia
Others;Resp viral swabSputum, blood and urine cultures
Serum amylase: screen for pancreatitis
CT cehst
273
Name some differentials for neonatal respiratory distress syndrome
Transient tachypnoea of the newborn
Meconium aspiraiton syndrome
Pneumonia
274
How is neonatal respiratory distress syndrome diagnosed/investigated?
Usually clinical
CXR: 'ground glass appearance'
Blood gas: hypoxaemia and hypercapnia
275
How can the risk of neonatal respiratory distress syndrome be reduced in premature infants?
Administer glucocorticoids to mother before delivery to enhance surfactant production in the infant
276
Name some complications of neonatal respiratory distress syndrome
R->L shunt through collapsed lung or ductus arteriosus
Ventilator use complications->pneumonia, pneumothorax
Pulmonary/intracranial haemorrhage
Necrotising enterocolitis
Bronchopulmoanry dysplasia
Retinopathy of prematurity
Hearing and other neurological impairments
277
Name some neonatal risk factors for neonatal sepsis
Late pre-term
Low birth weight <2.5kg
Black race independent risk factor for Group B strep-related sepsis
278
How do patients with neonatal sepsis present?
Respiratory distress: grunting, nasal flaring, tachypnoea
Feeding problems
Jaundice
Shock and multi-organ failure
Temperature: not a reliable sign, especiallly in pre-term infants(more likely to be hypothermic)
Seizures
Neurological sx
Discharge from eyes->chlamydia or gonorrhoea
Periumbilical cellulitis
Meningitis: bulging fontanelle, seizures
279
How is neonatal sepsis diagnosed/investigated?
Cultures, FBC, CRP
Blood gases
Urine mc+s if late onset sepsis
LP especially if meningitis concern
CXR advised against unless strong suspicion of chest source
280
In a patient with neonatal sepsis, if concerned about meningitis what antibiotic might you consider adding?
IV cefotaxime annd IV gentamicin
281
In a patient with neonatal sepsis, if concerned about necrotising enterocolitis what antibiotic might you consider adding?
Add metronidazole for anaerobic cover
282
In a patient with neonatal sepsis, if the mother has chorioamnionitis what antibiotic might you consider adding?
IV amoxicillin and IV gentamicin to cover for listeria
283
How is transient tachypnoea of the newborn diagnosed/investigated?
Clinical
CXR: hyperinflation of lungs and fluid in horizontal fissure
284
How is meconium aspiration syndrome diagnosed/investigated?
Mostly clinical
CXR: patchy areas of atelectasis and hyperinflation
ABG
Monitoring of oxygen
CRP, cultures if infection suspected
285
Name some causes of persistent/severe neonatal hypoglycaemia
Preterm birth (<37weeks)
Materal diabetes
IUGR
Hypothermia
Sepsis
Inborn errors of metabolism
Nesidioblastosis
Beckwith-Wiedemann syndrome
286
How is gastroschisis investigated/diagnosed?
Intrauterine USS, MRI
Labs: increased maternal serum alpha fetoprotein
287
Name some risk factors for gastroschisis
Mother's young age
Exposure to alcohol/tobacco
288
Name some ocmplicaitons of gastroschisis
Intestinal inflammation for intrauterine exposure to amniotic fluid
Malabsorption
Infarction of intestinal tube due to compressed blood vessels
Infection
289
Name some conditions associated with exomphalos
Down's syndrome
Edward's
Patau's
Beckwith-Wiedemann syndrome
290
Name some risk factors for exomphalos
Alcohol/tobacco use in pregnancy
SSRIs
Obesity
291
Name some complications of exomphalos
Abdominal cavity malformation
Volvulus
Ischaemic bowel
292
How is exomphalos diagnosed/investigated?
Intrauterine USS
MRI
Bloods: MS
AFP
Amniocentesis
293
How does a staged surgical repair work for exomphalos treatment?
Sac allowed to granulate and peithelialise over weeks/months-> forms shell
As infant grows-> sac contents can fit inside
Shell removed and abdomen closed
294
Name some complications of intestinal atresia
Distention of stomach and duodenum->accumulated fluid
Polyhydramnios(fetus swallows less fluid so more builds up)
Intestinal perforation
Meconium peritonitis
295
Name some of the signs/symptoms of intestinal atresia
Polyhdramnios antenatally
Postnatal: distended abdomen and vomiting
Vomiting may be bilious or non-bilious depending on site of atresia
296
How is duodenal atresia diagnosed/investigated?
Prenatal USS-> detectable in 3rd trimester: dilated fluid-filled stomach adjacent to dilated duodenum
Postnatal XR: double bubble sign
Physical exam in surgery: apple peel shape of intestines
Amniocentesis for Down's
Double bubble sign
297
Describe the treatment of duodenal atresia
Gastric decompression-> remove fluid from stomach
IV fluid compensation
Surgical reattachment of functional portions of intestines->duodenoduodenostomy
298
Name some differentials for oesophageal atresia and tracheo-oesophageal fistula
Congenital diaphragmatic hernia
Duodenal atresia
GORD
299
How is oesophageal atresia diagnosed/investigated?
USS antenatally
CXR: coiled NG tube
Echo and renal USS to check for associateed anomalies
Genetics if needed
300
Name some complications of oesophageal atresia and tracheo-oesophageal fistula
Anastomotic leak or stricture
Poor feeding and failure to thrive
Reccurence of tracheo-oesophageal fistula
Trachemoalacia
Recurrent chest infections and bronchiectasis
GORD
301
Name some differentials for necrotising enterocilitis
Sepsis
Gastroenteritis
Intestinal malrotation with volvulus
Hirschsprung's disease
302
How is necrotising enterocilitis investigaed/diagnosed?
Abdo X-ray
Abdo USS and venous blood gas may also be used
303
Name some preventative strategies for necrotising enterocilitis
Encourage breastfeeding in mothers of prem babies
Delayed cord clamping
Antenatal steroids in pre term labour
Treatment of preterm infants with caffeine citrate to prevent bronchopulmonary dysplasia
304
Name some complications of necrotising enterocilitis
Perforation and peritonitis
Short bowel syndrome
Sepsis and shock
DIC
Abscess formation
305
How are congenital diaphragmatic hernias diagnosed/investigated?
USS in utero
CXR/USS in neonate
Check for other abnormalities including genetics
306
How should bilirubin levels be measures in a neonate?
Transcutaenous first
If elevated serum bilirubin
307
Name some complication of neonatal jaundice
Related to phototherapy-> loose stools and dehydraiton
Kernicterus
308
Name some complications of kernicterus
Damage to nervous system is permanent
Cerebral palsy
Learning difficulties
Deafness
309
Name some complicatons of TORCH infecitons
Pre term birth
Delayed devlopment(IUGR)
Physical malformations
Loss of pregnancy
310
How are TORCH infections transmitted?
To fetus through placenta
During birth from birth canal
Through breast milk
311
Name some general symptoms of TORCH infections
Fever
Lethargy
Cataracts
Jaundice
Reddish-brown spots on skin
Hepatosplenomegaly
Congenital heart disease
Microcephaly
Low birth weight
Hearing loss
Blueberry muffin rash
312
How is CMV transmitted?
Direct contact with infected bodily fluids: saliva, tears, mucus, semen and vaginal fluids
313
How is HSV1 transmitted?
Oral herpes: oral secretions: kissing, sharing utensils, sharing drinks
314
How is HSV 2 transmitted?
STD
315
How is HSV transmitted to a newborn?
Passage through the birth canal
316
Name a consequence of parvovirus B19 in pregnancy
Severe reduction in RBC-anaemia in infected newborn-> hydrops fetalis
317
How might newborns with HIV present?
Low birth weight
Hepatosplenomegaly
Recurrent bacterial infections-> meningitis and pneumonia
318
How are TORCH infections diagnosed?
Prenatal pCR from amniotic fluid: toxoplasmosis, syphilis, B19
CMV: viral culture, IgM, PCR
Rubella: IgM
HSV: viral infections, PCR
319
How is toxoplasmosis treated in pregnancy and infancy?
Pregnancy: spiramycin
Infants: pyrimethamine and sulfadiazine
320
How are VZV and HSV treated in pregnancy/neonatology?
Acyclovir
321
How is treponema pallidum treated in neonates?
Penicillin
322
How is listeriosis investigated/diagnosed?
Blood cultures, CSF cultures
Placental or meconium cultures in neonates
323
How is listeriosis prevented in pregnancy
Avoid potentially contaminated food products
Cultures if unexplained febrile illness or suspicion of infection
324
How might HSV in neonates be diagnosed/investigated?
PCR, virus culture, direct fluorescent testing
MRI brain if suspected encepahlitis
325
How can the risk of bronchopulmonary dysplasia be reduced during pregnancy
GAive corticosteroids-betamethasone for premature labour to help speed up lung development
326
How can the risk of bronchopulmonary dysplasia be reduced once born?
Use CPAP instead of intubation/ventilation
Caffeine to stimulate respiratory effort
Don't over-oxygenate
327
How is bronchopulmonary dysplasia diagnosed?
CXR and oxygen dependency of infant
Ssleep study to assess o2 sats
328
Name some causes of epilepsy in children
Head trauma
Tumours
Infectious diseases
Prenatal injuries
Electrolye disturbances
Developmental disorders
Metabolic disorders
329
How is epilepsy diagnosed/investigated in children?
Refer urgently(<2weeks) for paeds assessment after 1st seizure
EEG-doesn't exclude epilpesy
MRI/CT to rule our structural causes
ECG for cardiac causes
Genome sequencing if onset <2yrs and other features: learning diasbilites etc)
330
Name some complications of epilepsy in children
Mood disorders
Status epilepticus
Sudden unexpected death in epilepsy
Developmental delay/regression
331
How are absence seizures diagnosed?
EEG: 3Hz, generalized, symmetrical
332
How are absence seizures treated?
Ethosuzimide 1st line
333
How is West's syndorme diagnosed?
EEG: hypsarrhythmia
ID underlying cause e.g. tuberous sclerosis, encephalitis etc
334
Describe the treatment of West's syndrome
Vigabatrin 1st line
Poor prognosis
335
How is Dravet's syndrome diagnosed?
Genetic testing
336
Name some causes of global developmental delay
Down's
Fragile X
Rett's syndrome
Metabolic disorders
Prematurity
337
Name 2 red flags when it comes to development
Developmental arrest: initially normal, stops gianing further skills
Developmental regression
338
Name some behaviours that might prompt a referral for developmental delay
Doesn't smile at 10 weeks
Hand preference before 12 month
sCan't sit unsupported at 12 months
Can't walk at 18 months
339
Name some causes of gross motor delay
CP
Ataxia
Myopathy and muscular dystrophy
Spina bifida
Visual impairment
340
Name some causes of fine motor delay
visual impariments(cataracts, retinoblastoma, ambylopia)
Dyspraxia
CP
341
Name some causes of social, emotional and behavioural delay
ASD
Neglect
Genetics: Down's etc
Hearing impairment
342
Name some causes of speech delay
Global delay-mchearing impairment
Chronic otitis media with effusion
Environment-lack of stimulus
ASD
Bilingual households
343
Name some key gross motor milestones
6-8 months: sits without support
12-15 months: walks unsupported
2 yrs: runs
3-4 yrs: hops on one leg
344
Name some general fine motor and vision milestones
Newborn: fix and follow face/light
3 mths: reaches for object
6 mths: palmar grasp, passes objects between hands
9-12 months: pincer grip
345
Name some differentials for retinoblastoma
Congenital cataracts
TORCH infection
Congenital rubella-characteristic 'salt and pepper' appearance
346
How is retinoblastoma investigated/diagnosed?
Ophthalmic exam under general anaesthesia:
dilated fundus exam and UDD B scan(mass-> characteristic)
MIR-> spread
LP/bone marrow biopsy-> if suspicion of extraocular invasion
Genetics
347
Name some conditionas associated with an increased risk of neroblastoma
Turner;s
Hirschsprung's
NF1
Congenital central hypoventilation syndrome
348
How is neuroblastoma diagnosed/investigated?
Urine catecholamines-> sensitive and specific: high levels of vanillymandelic acid(noradrenaline breakdown product) and homovanillic acid(adrenaline)
Bloods: pancytopenia, serum catecholamines, LFT's, LDH
Imaging: abdo USS, if mass: CT/MRI abdomen
Bone scan
Biopsy
349
Name some differentials for neuroblastoma
Wilms' tumour
Rhabdomyosarcoma
Phaeochromocytoma
Other neural crest tumours
350
Name one condition associated with hepatoblastoma
Beckweth-Wiedemann syndrome
351
How is hepatoblastoma investigated/diagnosed?
AFP: tumour marker
CXR to check for spread
USS
CT/MRI for staging and metastasis
Biopsy
352
Name some differentials for osteosarcoma
Ewing sarcoma: elevated ESR and LDH
Chondrosarcoma
Lymphoma of bone
353
How is osteosarcoma investigated/diagnosed?
Urgent XR in 25 hrs if child/young person has unexplained bone swelling/pain
-if positive x ray: 48 hour specialist assessment
X-ray: new bony growth and periosteal reaction causing sunburnt appearance
Full body CT: metastasis
Definitive: biopsy
354
Name some poor prognostic factors for osteosarcoma
Primary metastasis
Axial/prominent extremity tumour site
Large tumor volume
High serum ALP or LDH
355
How can Ewing's sarcoma be classified?
Low grade restricted to hard coating of bone(A) or local tissues(B)
High grade tissue restricted to hard coating of bone (A) or extending to local tissues(B)
Low or high grade tumour whcih has metastasised
356
Name some differentials for Ewing's sarcoma
Osteosarcoma
Osetomyelitis
Lymphoma
357
How is Ewing's sarcoma diagnosed/investigated?
48 hr Xray if young person with unexplained bone swelling/pain->48 hr assessment if positive
Bloods: FBC and LDH
Xray: onion skin appearance of bone destruction with layers of periosteal bone formation
CT/MRI/PETBone biopsy
358
Name some poor prognostic factors for Ewing's sarcoma
Large tumour burden
High lDH levels
Multiple bony metastasis
Axial localisation age >5yrs
Poor resposne to pre-op chemo
359
Name some risk factors for Hodgkin's lymphoma
EBV
HIV
Immunosuppression
Smoking
360
How is Hodgkin's lymphoma diagnosed/investigated?
Normocytic anaemia, neutrophilia, thrombocytosis, eosinophilia
Raised ESR and LDH
Lymph node biopsy: Reed Sternberg cells cells-diagnostic
CT/PET to stage disease
361
Name some conditions associated with an increased risk of brain tumours
Neurofibromatosis
Li-Fraumeni syndrome
Familial adenomatous syndrome
Gorli syndrome
362
How are brain tumours in children diagnosed/investigated?
Any child with newly abnormal cerebellar or neurologic function URGENT referral(<48hrs) for suspected brain cancer
MRI/CT to visualise space-occupying lesions
LP&Biopsy
363
Name some commplicaitons of paediatric brain tumours
GH deficiency
Cognitive decline
Subsequent brain tumour(risk increased due to radiotherapy)
Osteoporosis and poor mineral density
364
Name some differentials for von Willebrand's disease
Haemophilia-> mc bleeding into joints and muscles
365
How is von Willebrand's disease diagnosed/investigated?
Prolonged bleeding time and APTT
Normal PT and TT
Normal platelet count
Vin willebrand factor level and assay to confirm
366
Name some causes of microcytic anaemia in children
Iron deficiency-mc
Thalassaemia
Lead posioning
367
Name some causes of macrocytic anaemia in children
Vit B12/folate dficiency
368
Describe the treatment of IDA in children
Iron supplements+ diet advice
Vit B12 and folate if needed
Transfusions if severe
Tx underlying disease
369
How is alpha thalassaemia diagnosed/investigated?
FBC: microcytic anaemia
Hb electrophoresis-> can be normal, DNA analysis needed to make diagnosis
370
How is beta thalassaemia minor investigated/diagnosed?
Microcytosis with only mild anaemia
Blood filmd-target cells and basophilic stippling
Increased RBC
DIAGNOSTIC: Hb electrophoresis: raised HbA2
Ferritin normal/high
371
How is beta thalassaemia najor investigated/diagnosed?
Profound microcytic anaemia
Increased reticulocytes
Blood film: marked anisopoikilocytosis, target cells and nucelated RBCs
Methyl blue stains: RBC inclusions with precipitated alpha globin
Electrophoresis-> HbA2 and HbF raised
HbA2 normal or mildly elevated
372
Name some complications of beta thalassaemia major
Cardiomyopathy/arrhthymia/failure-AF in older patients
Acute bacterial sepsisrisk increased post splenectomyliver cirrhosis, portal hypertension
Endocrine dysfunction: hypocalcaemia with tetany due to hypoparathyroidismIron overload
Death->usually due to undiagnosed heart failure
373
How can iron overload be prevented?
Iron chelating agents: desferrioxamine/deferiprone/deferasirox
374
Name some differentials for sickle cell anaemia
Thalassaemia
G6PD deficiency
Haemoglobin C-variant which doesn't cause sx unlesss combined with HbS variant
375
How is sickle cell disease diagnosed/investigated
Diagnostic: Hb electrophoresis
CBC: anaemia
Blood smear: ID sickle shaped cells
376
How is fanconi anaemia diagnosed/investigated?
CBC, bone marrow
Chromosome DEB assay
Chromosomal breakage test positive
Cytometric flow analysis
377
How is fanconi anaemia treated?
Growth factors(G-CSF)
Androgen therapy
Transfusions
Stem cell transplant
Screen and monitor for malignancies
Family support, genetic counselling
378
Name some complications of fanconi anaemia
Neutropenia-> life-threatening infections
Malignancies: myelogenous leukaemias, myelodysplastic syndromes etc
Endocirne derangements
Congenital anomalies
379
Name some differentials for haemophilia
Von Willebrand Disease
Factor deficiencies
Platelet disorders
Hamatological malignancies
Vasculitis
380
How is haemophilia investigated/diagnosed?
Prolonged APTT with normal bleeding time, PT and thrombine time
Diagnostic: factor 8/9 assay
vWF antigen normal
381
Name a complication of Haemophilia A
Up to 1/3 of boys with haemophilia A will develop antibodies to factor 8 tx: worsens bleeding and complicates therapy
382
Name some differentials for ITP
Aplastic anaemia
Leukaemia
TTP
383
How is ITP diagnosed/investigated?
FBC: isolated thrombocytopenia
Blood film
Inflammatory markers
Bone marrow biopsy-only done if atypical features
384
Name some complications of ITP in children
Significant bleeds(3%)
Intracranial haemorrhage(1/300)
Typically occur when plt counts <20 + have pre-existing vascular abnormalities
385
Name some causes of TTP
Post-infection: urinary, GI
Pregnancy
Drugs: ciclosporin, OCP, penicillin, clopidogrel, aciclovir
Tumours
SLE
HIV
386
How is TTP investigated/diagnosed?
Diagnostic: Low ADAMST13 activity
Urine dpistick: haematuria, non-nephrotic range proteinuria
FBC: normocytic anaemia, thrombocytopenia and raised neutrophil
U&;E: raised urea and creatinine
Clotting normal
Blood film: reticulocytes(secondary to haemolysis) and schistocytes(fragmented RBCs)
D-dimer raised
387
Name some differentials for testicular torsion
Epididymo-orchitis
Trauma
Inguinal hernia
388
How is testicular torsion diagnosed/investigated?
Clinical
Doppler USS->reduced/absent blood flow to affected testicle-'whirlpool' sign
Urinalysis: rule out infection/UTI
Shouldn't delay treatment to wait for investigations
389
Name some complications of testicular torsion
Testicular necrosis
Impaired fertility
Contralateral testicular torsion in 40% of cases without bilateral fixation
390
How does testicular torsion present in neonates?
Paainless scrotal swelling whcih does not transilluminate
391
Give some examples of primary sexual characteristics
Men: penis, scrotum, testes
Women: vulva, vagina uterus, ovaries
392
Give some examples of secondary sexual characteristics
Men: facial hair, testicle/penile enlargement
Women: Pubic hair, breast development, widening of hips
393
How can precocious puberty be classified?
Gonadotrophin-dependent precocious puberty(GDPP)
Gonadotrophin independent precocious puberty(GIPP)
394
Name some causes of gonadotrophin-dependent precocious puberty(GDPP)
Idiopathic(>90% of cases)
Brian tumours
Cranial radiotherapy
Structural brain damage: hydrocephalus, meningitis, traumatic head injury
395
Name some causes of gonadotrophin-independent precocious puberty
Gonadal tumours
Adrenal/liver tumours
Congenital adrenal hyperplasia
396
Name some differentials for precocious puberty
Thryoid disorders
Growth hormone excess(acromegaly etc)
McCue-Albright syndrome
397
How is precocious puberty diagnosed/investigated?
Measure oestradiol/testosterone levels, adrenal androgens, TFTs and HCG
Brain MRI
Pelvic USS-> ovarian cysts/pathology
Hand and wrist X-rays for bone ageIntra-abdominal imaging if adrenal/hepatic tumour suspected
MRI brain and GnRH stimulation test dependent on initial investigation results
398
Name some complications of precocious puberty
Accelerated skeletal development and premature fusion of bone growth plates-> reduced final adult height
Psychological wellbeing
399
How do patients with Kallmann's syndrome present?
Typical: boy with delayed puberty and anosmia(no smell)
Hypogonadism, cryptorchidism
Low sex hormone levels
LFF/FSH low/normal
Normal/above-average height
Cleft lip/palate and visual/hearing defects also seen in some patients
400
Name some differentials for congenital adrenal hyperplasia
Adrenocortical tumour
PCOS
Hypothyroidism
Addison's disease
401
How is congenital adrenal hyperplasia investigated/diagnosed?
Bloods: 17-hydroxyprogesterone and ACTH elevated in CAH+ cortisol low
ACTH stimulation testing: gold standard
Genetic testing-to ID specific enzyme too
Imaging: USS to assess internal organs if ambiguous genitalia
Not currently routinely screened for
402
Name some complications of congenital adrenal hyperplasia
Growth suppression(premature epiphyseal closure-> high concentration of sex steroids)
Metabolic syndrome(diabetes, obesity, htn)Infertility
403
How is obesity defined in children?
BMI >98th centile for their age and sex
Overweight: >91st centile
404
Name some causes of obesity in children
Growth hormone deficiency
Endocrine:
Hypothyroidism,
Cushing's
Down's
Genetics:
Prader-Willi
Medications: steroids
405
Name some consequences of obesity in childhood
Orthopaedic problems: SUFE,, blount's disease, MSK pain
Psychological consequences: poor self-steem, bullying
Sleep apnoea
Benign intracranial htn
Long term: Increased risk of T2DM, htn, ischaemic heart disease
406
Name some risk factors for congenital hypothyroidism
Medication use during pregnancy-e.g. carbimazole
Maternal advanced age
Fhx of thyroid disease
Low birth weight
Pre-term birth
Multiple pregnancies
407
Name some differentials for congenital hypothyroidism
Down's syndrome
Congenital metabolic disorders
408
How is congenital hypothyroidism diagnosed/investigated?
Newborn screening: TSH>20mU/L
Elevated TSH and decreased free T4
Imaging: Thyroid USS/radionuclide scan to ID thyroid dysgenesis
Hearing assessment
409
Name some complications of congenital hypothyroidism
Irreversible intellectual disability
Sx of hyperthyroidism due to over-replacement of levothyroxine: wt loss, heat intolerance, tachycardia, diarrhoea, palpitations
410
How is pica investigated/diagnosed?
FBC: check for anaemiaIron studies
Serum zinc levels
Lead level
Abdo x-ray: ingested foreign objects or GI obstruction
USS/CT if obstruction/perforation suspected
Psych evaluation
411
Name some complications of pica
Nutritional deficiencies
GI complications: obstruction, perforation, intestinal parasites
Dental problems
Toxicity: lead poisoning etc
Infections
412
Name a risk factor for eczema
Fhx of atopy(asthma, hayfever)
413
How can eczema be classified?
Atopic eczema
Allergic contact dermatitis
Irritant contact dermatitis
Seborrheic dermatitis
Venous eczema
Asteatotic dermatitis
Erythrodermic eczema
Pompholyx eczema
414
How is eczema diagnosed?
Usually clinical
Patch test: if allergic contact dermatitis
Swabs: if concerned about infection
Bloods: if concerned about infection-total IgE and raised eosiniphils
415
How can eczema be classified in order of severity
Mild: areas of dry skin and infrequent itching
Moderate: dry skin, frequent itching and erythema
Severe: widespread, incessant itching and erythema
Infected: weeping, crusted, pustules, fever or malaise
416
Name some complications of eczema
Scratching: poor sleep, poor mood, bacterial infection risk
Psycho-social: insecurities, avoid certain activities like swimming
Eczema herpeticum
417
How is eczema herpeticum diagnosed?
Swab and Tzanck test
418
How is eczema herpeticum treated?
IV aciclovir
Often given concomitantly with antibiotics as concomitant bacterial infection common and difficult to exclude clinically
419
Name some causes of Stevens Johnson syndrome
Beta lactams: penicillins and cephalosporins
Sulphonamides
Lamotrigine, carbamazepine, phenytoin
Allpurinol
NSAIDs
OCP
Infectious: HSV, EBV, influenza, hepatitis
420
Name some differentials for Steven-Johnson syndrome
Erythema multiforme
Drug rash with eosinophilia and systemic sx(DRESS)
421
How is Steven-Johnson syndrome diagnosed?
Usually clinical
Skin biopsy->necrotic keratinocytes and a sparse lymphocytic infiltrate
422
Name some differentials for allergic rhinitis
Sinusitis
Nasal polyps
Deviated nasal septum
Common cold
423
How is allergic rhinitis diagnosed?
Clinical
Skin prick or blood tests for specific IgE antibodies to ID allergen
424
Name some causes of rashes in children
Septicaemia
Slapped cheek
Hand foot and mouth
Measles
Urrticaria
Chickenpox
Roseola
Rubella
425
Name some differentials for urticaria
Dermatitis
Drug eruptionsE
rythema multiforme
Vasculitis
AI disorders
426
How is urticaria diagnosed/investigated?
Clinical-thorough history and exam
Allergy testing
Bloods: FBC, LFT, TFT, ESR, CRP: rule out underlying systemic diseases
Urinalysis if suspected vasculitis
Skin biopsy
Sx diaries: establish triggers and timings
427
Name some complications of urticaria
Resp compromise in severe cases of angioedema involving upper airway
Psych distress and decreased QOL
SE's from longterm meds
428
Name some different kinds of birth marks
Salmon patches/stork-marks
Haemangiomas/strawberry marks
Port wine stains
Cafe-au-lait spots
Blue-grey spots
Congenital moles/naevi
429
How can anaphylaxis be investigated/diagnosed?
Serum mast cell tryptase: peak 1 hr post anaphylaxis, remain high for 6 hours
Shouldn't delay treatment
430
Name some investigations used to iagnose/assess rheumatic fever
ECG-prolonged PR
Bloods: FBC, CRP, ESR, cultures
Proof of recent strep infection
CXR-heart failure
Echo-valvular abnormalities
431
Name some complications of rheumatic fever
Mitral stenosis-isolated is mc
Mitral regurg
Mixed mitral stenosis and regurgitation
Aortic regurgitation
Aortic stenosis
Tricuspid regurg/stenosis
432
Name some differentials for paediatric heart failure
Asthma
Pneumonia
GORD
Anaemia
433
How can infective endocarditis be classified?
Acute: Up to 6 weeks
Subacute: 6 weeks-3 months
Chronic: >3 months
434
Name some non-infective causes of infective endocarditis
Marantic endocarditis(malignany-pancreatic cancer)
Libman-Sacks endocarditis(SLE)
435
Name some of the symptoms of infective endocarditis
Diverse and variable-can be rapid progression or chronically/non-specific
Fever-mc
Night sweats
Anorexia
Weight loss
Myalgia
Headache
Arthralgia
Abdo pain
Cough
Pleuritic pain
436
Name some differentials for infective endocarditis
Non-infectious endocarditis
Rheumatic fever
437
How is infective endocarditis diagnosed?
Modified Duke criteria
2 major OR one major and 3 minor OR all 5 minor
438
How can you remember the Duke criteria?
BE FIVE PM
Major:
Blood cultures
Evidence of endocardial involvement on echo
Minor:
Fever
Immunological phenomena
Vascular phenomena
Echo
Predisposing features
Microbiological evidence
439
Name some indications for surgery in patients with infective endocarditis
Haemodynamic instability
Severe heart failure
Severe sepsis
Valve obstruction
infected prosthetic valve
Persistent bactaraemia
Repeated emboli
Aortic root abscess-> PR prolongation on ECG
440
Name some complications of infective endocarditis
Acute valvular insufficiency causing heart failure
Neurological sx: stroke, abscess, haemorrhage
Embolic complications-> infarctions of kidneys, spleen or lung
Inffections: osteomyelitis, septic arthritis
441
How is congenital heart block diagnosed?
Prenatal scans: fetal bradycardia
ECG: complete dissociation between P waves(atrial contraction) and QRS complexes(ventricular contraction)
442
Name some complications of congenital heart block
Fetal hydrops and intrauterine death
Heart failure
443
Name some red flag features when considering a diagnosis of IBS
Rectal bleeding
Unexplained/unintentional weight loss
Fhx of bowel or ovarian cancer
Onset after 60 years
444
Name some differentials for IBS
IBD
Coeliac
Colorectal cancer
445
Name some parasitic causes of gastroenteritis
Cryptosporidium
Entamoeba histlytica
Giardia intestinalis
Schistosoma
446
Name some differentials for gastroenteritis
Food poisoningIBS
IBD
Peptic ulcer disease
Bowel obstruction
447
How is gastroenteritis diagnosed/investigates?
Clinical
BP
Stool cultures: if immunocompromied, recently travelled abroad, mucus/blood in stool
Urine dip for blood/protein: haemolytic uraemic syndrome
Bloods and blood cultures
Stool cultures if not improving after 7 days
448
How is gastroenteritis caused by salmonella/shigella treated?
Ciprofloxacin
449
How is gastroenteritis caused by campylobacter treated?
Macrolide like erythromycin
450
How is gastroenteritis caused by cholera treated?
Tetracycline
451
How should the spread of gastroenteritis be prevented?
Children off school until 48 hours after last episode of vomiting/diarrhoea
Shouldn't swim in swimmin gpools for 2 weeks after
452
Name some risk factors for developing dehydration in patients with gastroenteritis
<1yr
Low brith weight/malnutrition
24 hours: > 2 vomits or >5 diarrhoeal stoolsUnable to tolerate fluids
453
Name some complications of gastroenteritis
Dehydration
Lactose intolerance following resolution of gastroenteritis episode
Haemolytic uraemic syndrome
454
Name some risk factors for Crohn's disease
Family history
Smoking : 3 times increased risk
Diets high in refined carbs and fats
455
How is Crohn's disease diagnosed?
Faecal calprotectin: raised
Colonoscopy with biopsy-diagnostic
Anaemia, raised ESR/CRP, thrombocytosis, haematinics and iron studies
Transmural inflammation seen on imaging(MRI)
456
Name some complications of Crohn's disease
Fistulas
Strictures
Abscesses
Malabsorption
Perforation
Nutritional deficiencies
Increased risk of colon cancer
Osteoporosis
Intestinal obstruction and toxic megacolon
457
Name some differentials for Ulcerative colitis
Crohn's
Infectious colitis
Ischaemic colitis
458
How is Ulcerative colitis diagnosed/investigated?
Faecal calprotectin
Bloods: raised ESR/CRP, anaemia and raised WCC
Long standing UC: Lead pipe colon on abdo x ray
Colonosopy, barium energy and biopsy
459
Name some indications for urgeent surgery in a patient with Ulcerative colitis
Acute fulminant UC
Toxic megacolon with little improvement after 48-72 hours
Sx worsening despite IV steroids
460
Name some acute complications of Ulcerative colitis
Toxi megacolon
Massive lower GI haemorrhage
461
Name some long-term complications of Ulcerative colitis
Colorectal cancer
Cholangiocarcinoma
Colonic strictures->large bowel obstruction
462
Name 3 things gluten is found in
Wheat
Rye
Barley
463
Name some risk factors for coeliac disease
Family history
HLA-DQ2 allele
Co-existing AI conditions
464
Name some differentials for coeliac disease
IBS
IBD
Lactose intolerance
465
How is coeliac disease diagnosed?
Anti TTG IgA antibody and total IgA levels, IgA EMA antibodies
GS: OGD with jejunal biopsy: subtotal villous atrophy
466
Name osme complications of coeliac disease
Anaemia(iron, B12 or folate deficiency)
Hyposplenism
Osteoporosis
Enteropathy associated T cell lymphoma(EATL)
467
How can undernutrition be classified?
Wasting-low weight for height
Stunting: low height for age
Underweight: low weight for age(can be due to stunting wasting or both)
Micronutrient-related malnutrition: iron, vitamin A or iodine
468
Name some differentials for malnutrition in children
Specific genetics: Prader-Willi/Turner
Infectious diseases
Coeliac
469
How might malnutrition be assessed in a child?
Accurate measurement of height and weight plotted on growth charts
Bloods to check for anaemia and specific deficiencies
Tests to check for specific organic causes
470
Name some complications of malnutrition
More frequent/severe infections
Poor wound healing
Failure to thrive
Reduced muscle mass
Poor bone health-rickets/osteoporosis
Reduced cognition
Leading cause of mortality in children<5yrs globally
471
How can FTT be classified?
Organic-medical illness
Non-organic: psycho-social
472
Name some causes of organic FTT
GI: GERD, malabsorption like coeliac
Metabolic: thryoid disorders
Chronic: congenital heart disease, CF
473
Name some differentials for FTTQ
UTI-common
Laryngomalacia
Pyloric stenosis
CF
474
How should FTT be assessed/investigated?
Growth parameters-growht chart
Physical signs of malnutrition-muscle wasint, SC fat loss, brittle hair
Developmental assessment
Investigations for underlying dx: bloods, coeliac screen etc
475
How do patients with Hirschsprung's disease present?
Neonatal: failure/delayed passage of meconium, vomiting
Older children: tx resistant constipation, abdominal distention, poor weight gain
476
How is Hirschsprung's disease investigated/diagnosed?
Abdo x-ray
Rectal biopsy: gold standard
477
Name some differentials for Meckel's diverticulum
Gastroenteritis
Appendicitis
IBD
Intestinal obstruction
478
How is Meckel's diverticulum investigated/diagnosed?
Technetium-99m scan-ID ectopic gastric mucose(if stable)
CT can show intususseption
Ix should not delay tx-dx can be made operatively
479
Name some features indication a Meckel's diverticulum is high risk
Longer than 2cm or narrow neck/fibrotic tissue
Ectopic gastric tissue
Inflamed diverticulum
480
Name some complications for Meckel's diverticulum
Haemorrhage
Intussusception
Obstruction
Ulceration and perforation
481
Describe the symtpoms of toddler's diarrhoea
Stools vary in consistency
Often contain undigested food
>3 loose stools per day
482
How can cow's milk protein intolerance be classified?
Immediate:
IgE mediation: CMPA(allergy)
Delayed: non-IgE mediated(CMPI(intolerance)
483
How is cow's milk protein intolerance diagnosed/investigated?
Eliminate cow's milk protein from diet for 2-6 weeks and reintroduce-monitor symptoms
Skin prick test
Specific IgE testing
484
Name some differentials for cow's milk protein intolerance
Lactose intolerance
GERD
Eosinophilic oesophagitis
485
How is a choledochal cyst diagnosed?
Abdo USS scan-> dilated bile duct
MRCP/ERCP
486
How is a choledochal cyst treated?
Surgical removal of cyst and gallbaldder
Liver biopsy at same time to check for damage
487
Name some complications of a choledochal cyst
Liver fibrosis/cirrhosis
Cholangitis
Pancreatitis
Cancer of bile ducts
488
Name some complications of neonatal hepatitis
If untreated for >6 months risk of chronic liver disease->hepatic cirrhosis-> liver failure
489
How is neonatal hepatitis investigated/diagnosed?
USS: check bile ducts for obstruction and correct development
Liver biopsy: multinucelated giant cells
Bloods: high serum bilirubin
490
How can hernias be classified?
Location of hernia
Status of bowel
491
Describe the types of hernias when classed by location
Umbilical
Epigastric
Inguinal
492
Name some risk factors for hernias in children
Low birth weight and prematurity
Family history
Being male-especially inguinal hernias
Connective tissue disorders
493
How are strangulated hernias investigated/diagnosed?
Clinically when reducible
USS typically first line-rule out causes of acute abdomen
CT for signs of ischaemia
Bloods for signs of infection
494
Name some complications of a hernia
Recurrence of hernia
Stranguled-> bowel ischaemia, necrosis , perforation and sepsis
495
