Paeds Flashcards
(244 cards)
1
Q
Which 3 shunts exist in fetal circulation
A
- Ductus venous (umbilical vein - IVC, allows liver bypass)
- Foramen vale (R - L atrium, allows bypass of R ventricle + pulmonary circulation)
- Ductus arteriosus (Pulmonary artery - aorta, allows bypass of pulmonary circulation)
2
Q
What keeps the ductus arteriosus open?
A
Prostaglandins
3
Q
When is surfactant produced?
A
24-28 weeks. Levels are not sufficient until 34weeks gestation.
4
Q
Neonatal mortality rate
A
= Deaths which occur within first 28 days of life following live birth
England + Wales = 2.8 per 1000
Globally = 17 per 1000
Japan + Iceland have lowest rates, Afghanistan, Somalia + Africa have highest rates.
5
Q
Still birth rate
A
= When a foetus is delivered after 24 weeks gestation without any signs of life
In England + Wales = 4.1 per 1000
Globally = 18
Iceland, Andorra + Denmark have lowest
Pakistan, nigeria + chad have highest
6
Q
Perinatal mortality rate definition
A
Deaths occurring within first 6 days of life (including still births)
7
Q
What gestation is classified as pre-term birth + WHO classification
A
< 37 weeks gestation
<28 weeks = extreme preterm
28-32 weeks = very preterm
32 - 37 = Moderate preterm
8
Q
Methods of predicting preterm labour
A
Transvaginal USS of cervic (if >15mm then preterm labour unlikely)
Fetal fibronectin measurement ( <50 means labour is unlikely)
9
Q
Neonatal Resuscitation
A
- Dry + Warm the baby
- Calculate APGAR score - at 1, 5 and 10mins
- Stimulate breathing (Dry baby)
- 2 x cycles of 5 inflation breaths (3s)
- 30s of ventilation breaths
- If no response - Chest compressions if HR <60
- perform these at 3:1 ratio with breaths - IV drugs + Intubation
10
Q
Causes of neonatal respiratory distress syndrome
A
- Prematurity (due to lack of surfactant)
- Meconium aspiration
- Congenital cystic lung disease
- Congenital pneumonia
- Pneumothorax
- Milk aspiration
11
Q
Premature Apnoea
A
= periods where breathing stops spontaneously for >20s or is associated with desaturation/bradycardia
Caused by immaturity of the autonomic nervous system.
12
Q
Management of premature apnoea
A
Monitoring
Tactile stimulation
IV Caffeine
13
Q
Meconium aspiration risk factors
A
Post term babies (>42 weeks)
Pre-eclampsia
Chorioamnionitis
Smoking/substance misuse
14
Q
CXR findings in Meconium aspiration / Respiratory distress syndrome
A
Ground-glass appearance + hyperinflation
15
Q
Meconium stained amniotic fluid indicates what
A
Meconium aspiration
16
Q
Management of meconium aspiration
A
Intubate + Ventilate
If Hypertensive give NO
IV Ampicillin + Gentamicin
17
Q
Management of persistent pulmonary HTN of the newborn
A
Most will need intubation + ventilation + circulatory support
NOS + Sildenafil
18
Q
Signs & Symptoms of neonatal abstinence syndrome
A
CNS: Irritablity + Hypertonia + High pitched cry + seizures
Vasomotor: Yawning + sweating + pyrexia + tachypnoea
GI: Poor feeding + vomitting+ Hypoglycemia
19
Q
Treatment of opiate induced neonatal abstinence syndrome
A
Morphine sulfate
20
Q
Treatment of non-opiate induced neonatal abstinence syndrome
A
Phenobarbitone
21
Q
Neonatal hypoglycaemia in first hour of life
A
Transient + normal
22
Q
What glucose level is considered neonatal hypoglycemia
A
< 2.6mmol/L
23
Q
Causes of persistent neonatal hypoglycaemia
A
- Sepsis
- Hypoxic-ischemic encephalopathy
- Hypothermia
- IUGR / Preterm birth
- Beckwith Wiedemann syndrome (overgrowth disorder)
- GH deficiency
- Congenital adrenal hyperplasia (remember similar to Addison’s syndrome)
24
Q
Symptoms of Neonatal hypoglycaemia
A
Irritability
Tachypnoea
Pallor
Weak cry
Drowsiness / Seizures
Hypothermia
25
Management of neonatal hypoglycaemia
If asymptomatic - encourage regular feeds
If symptomatic or BM v low = IV 10% dextrose
26
Necrotising enterocolitis
Bowel necrosis in premature neonates. A life threatening emergency - leading cause of death in preterm infants
27
Classic Triad in necrotising enterocolitis
Bile stained aspirate
Abdominal distension +/- discolouration
Bloody stools / Bilious vomitting
28
In what timescale does necrotising enterocolitis typically occur
First 10 days of life
29
What ABG finding would occur in necrotising enterocolitis
Metabolic acidosis
30
Gold standard investigation & findings in necrotising enterocolitis
Abdo X ray;
This shows Dilated loops of bowel, bowel wall oedema, gas in the bowel / free gas in peritoneum if perforated.
Football sign - air outlining the falciform ligament
Rigler sign - air inside + outside the bowel
31
Management of necrotising enterocolitis
Similar to bowel obstruction - NBM + IV fluids + NG drainage + immediate referral to surgeons for removal + stoma
32
Which organism most commonly causes neonatal sepsis
Group B streptococcus
33
What are the red flags / Clinical indicators of neonatal sepsis
Maternal sepsis
Seizures
Jaundice
A term baby requiring ventilation after birth
Respiratory distress starting < 4 hours after birth
34
Which antibiotics should be used for GBS neonatal sepsis
Benzypenecillin
35
Which antibiotics should be used for neonatal sepsis caused by E.coli
Gentamicin
36
What screening is there for retinopathy of prematurity
Babies born < 32 weeks or Birth weight < 1.5kg should be screened every 2 weeks
37
Management for Retinopathy of prematurity
Transpupillary laser photocoagulation
38
Neonatal jaundice rules of thumb
< 24hrs of life = Pathological, needs urgent invx
First 10 days of life = normal (due to HbF breakdown) - will be unconjugated
After 2 weeks = pathological
39
Causes of neonatal jaundice
Haemolytic disease of the newborn
Breastmilk jaundice
ABO incompatability
Congenital disease: G6PD deficiency, A1AT def, CF, Gilberts syndrome etc
Sepsis
Neonatal cholestasis
Biliary atresia
Thyroid problems
40
Investigations for Neonatal jaundice
FBC + Blood film
Conjugated / Unconjugated bilirubin levels
Blood type testing of mother + baby
Direct Coombs test - for haemolysis
TFTs
Blood/urine cultures if sepsis is suspected
41
Management of neonatal jaundice
Jaundice should be closely monitored + plotted on the chart.
Photobox therapy (UV therapy) commonly used in unconjugated cause.
42
Kernicterus
Brain damage due to high bilirubin levels.
43
What are the 3 neonatal screening checks
NIPE Newborn exam - in first 72hrs
Heel prick blood spot - day 5-9
Otoacoustic emission hearing test
44
Which 9 conditions are screened for in the heel prick blood spot test
1. Hypothyroidism
2. Haemoglobinopathies
3. Cystic Fibrosis
4. Phenylketonuria
5. Medium chain Acetyl coach dehydrogenase deficiency
6. Maple syrup urine disease
7. Isoclad acidemia
8. GA1
9. Homocystinuria
45
Sweaty foot odour + Seizures in first few days of life
Isovaleric acidemia
46
A health baby which quickly becomes ill with cerebral oedema and Sweet swelling urine + ear wax
Maple syrup urine disease
47
Blonde hair, Blue eyed baby with musty smell, LDs and seizures within 6 weeks of life
Phenylketonuria
48
Acyanotic congenital heart diseases
VSD
ASD
PDA
Pulmonary stenosis
Coarctation of the aorta
Aortic stenosis
49
Cyanotic congenital heart diseases
The T's
Transposition of the great arteries
Tetralogy of fallout
Truncus arteriosus
Tricuspid valve anamolies
Tons of others; Ebstein anomoly
50
ASD murmur
Mid-systolic cresendo-decresendo murmur loudest at the upper left sternal border with fixed split S2
51
Complications of ASD
AF + Atrial flutter
Stroke following DVT
Pulmonary HTN
Eisenmenger syndrome
52
VSD murmur
Pan-systolic murmur heard best at left lower sternal border. May feel systolic thrill.
(MR + TR also cause pan-systolic murmur)
53
PDA murmur
Continuous cresendo-decresendo "machinery" murmur (may not hear S2)
54
Coarctation of the aorta murmur + Clinical signs
Weak femoral pulse +/- Collapsing pulse!!!
Murmur = systolic murmur heard below left clavicle + left scapula
May have underdeveloped L arm and legs.
55
Which syndrome is associated with coarctation of the aorta
Turner's syndrome
56
Management of coarctation of the aorta
Severe cases require surgery - Give prostaglandin E while waiting for surgery to keep the ductus arteriosus open
57
Transposition of the great arteries
Aorta + pulmonary trunk are transposed (R ventricle pumps blood into Aorta + L ventricle into pulmonary vessels).
Only survivable if there is a L --> R shunt (e.g VSD)
CXR shows oval/egg shaped heart + increased pulmonary vasculature.
Management = prostaglandins + surgery
58
Tetralogy of Fallot
Associations = Digeorge syndrome + Chromosome 22 deletions
Causes HF by age 1
Features;
1. VSD
2. Over-riding aorta
3. Pulmonary valve stenosis
4. RVH
Murmur = ejection systolic murmur at pulmonary area
CXR = boot shaped heart
59
Tet spells
Acute transient worsening of R --> L shunt causing a cyanotic episode. Often happens when the child is exerting themselves (e.g crying or walking).
Treatment;
- some pts may squat or bring knees to chest
- Beta blockers
- IV fluids (to inc pre-load)
- Morphine (decrease respiratory drive)
- Phenylephrine infusion
60
Ebstein anomaly
Congenital heart condition where tricuspid valve is lower meaning bigger R atrium + smaller R ventricle.
Associated with wolf Parkinson white syndrome
Features = Gallop rhythm + S3 + S4
CXR = box shaped heart
61
Which drug can cause Ebstein anomaly
Lithium
Common in bipolar mothers
62
Failure or delay (> 24hrs) to pass meconium + Abdo pain + distension
Hirschprung's disease
63
Gold standard investigation for hirschprung's disease
Rectal biopsy - shows absence of ganglions
64
Hirschprung's disease
= colonic aganglionosis
congenital condition where the parasympathetic ganglions of the myenteric/auerbach's plexus are absent in the terminal bowel/rectum resulting in constricted bowel with distension proximally to this.
65
Hirschprung's disease associated conditions
Down's syndrome
Neurofibromatosis
MEN II
Waardenburg (blue eyes, white spots in hair + hearing loss)
66
Eisenmenger syndrome
This is when an ASD/VSD/PDA (L --> R shunt) leads to pulmonary HTN and eventually a R --> L shunt causing cyanosis.
Examination findings;
- Right ventricular heave
- Loud S2
- Raised JVP
- Peripheral oedema
- Cyanosis / Clubbing / SOB / plethoric complexion
+ Signs of underlying defect (ASD/VSD/PDA)
Management = Definitive treatment is heart-lung transplant. Medical management involves Sildenafil for pulmonary HTN or venesection for polycythemia + Prophylaxis of thrombosis / IE
67
Bronchiolitis
--> Inflammation of the bronchioles caused by RSV
Most common in children <1yrs (can't be diagnosed after 2 yrs) & Premature babies are more at risk.
Symptoms;
- Coryzal symptoms
- Signs of respiratory distress
- Dyspnoea / Tachypnoea
- Mild fever
- Wheeze + Crackles on auscultation
Management = Supportive, ensure adequate intake (may need IV fluids or NG tube) + Nasal drops/suctioning + supplementary oxygen.
68
Red flags / When to admit a baby with bronchiolitis
Age < 3 months
Pre-existing condition e.g prematurity, CF, downs syndrome
50-75% less milk intake
Dehydration
RR > 70
O2 sats < 92%
Signs of respiratory distress
Apnoeas
69
What is given as prophylaxis of bronchiolitis in high risk babies?
Palivizumab - monoclonal antibody.
Given to premature babies, those with CHD or existing conditions etc.
Monthly injection
70
Monitoring of children on ventilatory support
Capillary blood gases.
Signs of poor ventilation;
- Rising pC02
- Falling pH (acidosis) / T2RF
71
Signs of respiratory distress in infants
Raised RR
Use of accessory muscles
Intercostal recessions
Subcostal recessions
Nasal flaring
Head bobbing
Tracheal tugging
Cyanosis
Abnormal airway noises
72
What is a focal wheeze indicative of
Foreign body / airways obstruction
(asthma, bronchiolitis and viral wheeze cause a diffuse expiratory wheeze)
73
Viral induced wheeze
Essentially an acute wheezy illness in a child aged 2 - 5 (not bronchiolitis and not asthma).
Pathophys = inflammation/oedema of the small airways causing smooth muscle constriction.
Typically caused by virus (e.g RSV or rhinovirus)
Symptoms = evidence of viral illness, SOB, Respiratory distress + expiratory wheeze heard throughout the chest.
Management = managed the same as acute asthma: Supplementary oxygen + Nebulised salbutamol / ipratropium + Steroids (oral pred/IV hydrocortisone to reduce inflammation)
If severe/no response can try IV magnesium sulphate or IV aminophylline.
74
At what age can asthma be diagnosed in a child
> 5yrs
75
Main differences between viral-induced wheeze + asthma
VIW = Age <5yrs + no history of atopy + occurs only in illness (i.e not triggered by cold weather/exercise etc like asthma)
76
Croup
Acute infective respiratory disease caused by Parainfluenza virus - typically affecting children 6months - 2 years.
Presentation;
- Respiratory distress & Fever
- seal-like 'Barking cough'
- Stridor
- Hoarse voice
Management;
- Supportive treatment
- Oral dexamethasone (v effective) - symptoms should resolve in 48hrs
77
Xray findings in croup
Steeple sign - narrowing below the epiglottis
78
What scoring system can be used to determine the severity of croup?
Westly scale
3-7 = moderate
8-11 = severe
12+ = respiratory distress
79
Epiglottitis
Inflammation of the epiglottis typically caused by Haemophilus influenza type B.
(now less common due to vaccinations)
= can be life threatening as may cause total airway obstruction.
Symptoms;
- Stridor
- Drooling
- Tripod position (kids often sat forward with hands on knees)
- Difficulty / pain when swallowing
- Muffled voice
Management = Keep the child calm. Secure airway (consider intubation if obstruction). Give IV Ceftriaxone + Dexamethasone
80
When is the haemophilia influenza type B vaccination given?
Part of the 6-1 vaccine at 2months, 3 months and 4 months and given as a single vaccine at 12-13months
81
6 in 1 Vaccine
Given at age 2 months, 3 months + 4 months
1. Diptheria
2. Tetanus
3. Whooping cough (pertussis)
4. Polio
5. Hib
6. Hepatitis B
82
Investigation + Findings in epiglottitis
Lateral Xray neck
Characteristic thumbprint sign
83
Complications of epiglottitis
Airways obstruction
Epiglottic abscess
84
Laryngomalacia
Congenital malformation of the larynx causing a partial obstruction on inspiration.
Typically occurs in infants age 6months.
Signs;
- Chronic Inspiratory stridor (may be more prominent when feeding, crying or lying down)
- Swallowing difficulty + choking
*They rarely have respiratory distress as its more chronic so they adjust to the hypoventilation.
Investigation of choice = laryngoscopy
- this shows omega shape (shortened epiglottic folds)
Management = usually resolves with growth. May need tracheostomy or surgery if severe.
85
Whooping cough
= URTI caused by Bordetella pertusisss (gram -ve)
Symptoms;
- starts with Coryzal symptoms and then severe coughing fits start after 7 days.
- cough is worse at night + after feeding
- Vomitting
- Cyanosis
- Large inspiratory 'whoop' at the end of coughing
Diagnosis = Nasopharyngeal swab (if 2-3 weeks after onset) or Anti-pertussis toxin IgG if < 2 weeks
Management = notify PHE.
Supportive care
Macrolide antibiotics (e.g azithromycin) or Co-trimoxazole if in first 21 days or vulnerable patient.
+ prophylactic Abx for close contacts.
86
What is the main complication of whooping cough
Bronchiectasis
87
Pertussis vaccination schedule
Part of the 6 in 1 vaccine given at 8, 12 and 16 weeks.
Also given at age 3-4yrs as the 4in1 booster.
Pregnant women = 16-32 weeks
88
Cystic Fibrosis
Autosomal recessive condition due to delta-F508 mutation on chromosome 7.
Key consequences;
- Thick pancreatic / biliary secreations (blocks ducts + decreases digestive enzymes)
- Thick airway recreations = inc infection
- Bilateral absence of vas deferens in males
89
Clinical Presentation of Cystic fibrosis
1. Often presents with meconium ileus = failure to pass meconium in first 24hrs + abdo distension + vomitting.
2. Recurrent resp infections + thick sputum
3. Failure to thrive
4. Pancreatitis / Steatorrhoea
5. Abdo pain + bloating
6. Child may have a 'salty taste' due to concentrated sodium in sweat
90
Investigations for CF
Bloodspot test (day 5) - often picks it up
Gold standard = sweat test - pilocarpine applied to skin (>60mmol/L chloride is diagnostic)
Genetic testing - GFTR gene
91
Which microorganisms typically colonise in patients with Cystic Fibrosis
Staph aureus
H influenxa
Klebsiella pneumoniae
pseudomonas auerginosa
92
Management of Cystic fibrosis
Supportive = Chest physiotherapy, High calorie diet, Regular vaccinations, Monitoring every 6 months + avoid other CF patients due to infection risk
Medical = Creon + Prophylactic Flucoxacillin, Bronchodilators, Nebulised DNase + Hypertonic saline
*Fertility treatment + genetic counselling also
93
What are the main complications of cystic fibrosis
Infection
Diabetes
Osteoporosis / Vit D deficiency
Liver failure
Pancreatic insufficiency
94
Kartagner's syndrome
= Primary ciliary dyskinesia.
= autosomal recessive condition causing dysfunction of cilia (similar presentation to CF due to resp infections)
Triad of Features;
1. Paranasal sinusitis
2. Bronchiectasis
3. Situs inverts (mirrored organs) / Dextrocardia
Invx = CXR + Ciliated epithelium sample + Semen analysis
95
Signs & Symptoms of asthma
Episodic symptoms + Diurnal variability
Dry cough + wheeze + SOB
History of atopy
Bilateral widespread polyphonic wheeze
Reversibility with bronchodilators
96
Diagnosis / Invx of asthma in children
1st line = Spirometry + reversibility testing (Child >5yrs)
- BDR should improve FEV1 by >12%
If spirometry is normal or reversibility testing is normal despite an obstructive spirometry - 2nd line investigation is FeNO (>35 is diagnostic)
97
Management of asthma in children aged 5-12yrs
1. SABA
2. SABA + Low dose ICS
3. SABA + Low dose ICS + LTRA
4. SABA + Low dose ICS + LABA
5. SABA + MART (ics + laba)
6. SABA + Med dose ICS + LABA
7. Refer - consider high dose ICS or oral theophylline.
98
How to council parents worried about steroid use in their child
Inhaled corticosteroids have been shown to slightly reduce growth velocity. However long term use only equates to a small reduction of adult height of 1cm. Also using low doses prevents this occurrence which is why we only use low doses until asthma is very severe when high doses may need to be considered.
Also the inhaled steroids prevent asthma attacks (which would result in the need for hospitalisation + the use of much higher dose steroids).
Children with asthma are monitored closely and their growth will be monitored to ensure they are growing appropriately.
99
Features of a MODERATE asthma attack
Peak flow >50% of predicted
Able to speak in full sentences
100
Features of a SEVERE asthma attack
Peak flow < 50% of predicted
Unable to complete full sentences
Sats < 92%
Signs of respiratory distress
RR > 30 (>40 if <5yrs)
HR >125 (>140 if <5yrs)
101
Features of a LIFE-THREATENING asthma attack
Peak flow < 33% of predicted
Sats <92%
Exhaustion
Poor respiratory effort
Hypotension
SILENT CHEST!!!
Cyanosis
Altered consciousness
102
Management of severe/life-threatening asthma attack
ABG + CXR are needed!
1. Oxygen!
2. Nebulised Salbutamol 5mg (2.5 if <5yrs)
3. Nebulised Iptratropium bromide (antimuscarinic)
4. Oral prednisolone / IV hydrocortisone
5. IV magnesium sulphate + IV aminophylline can be considered under specialist review.
103
NEAR FATAL asthma
Raised pC02 (indicates exhaustion)
104
Criteria for discharge after acute asthma attack
Stable on discharge meds for 12-24hours (no oxygen or nebz)
Inhaler technique checked + recorded
PEFR >75% best or predicted.
105
Difference between IgE mediated and Non-IgE mediated food allergies
IgE mediated ones have a history of allergic symptoms e.g urticaria, facial swelling, anaphylaxis within 15mins etc. Usually happens on first ingestion of the foot
Non-IgE mediated is typically just GI upset
106
Gold standard investigation for food allergies
Elimination from diet + blind controlled food challenge in hospital.
Skin uric tests + RAST testing can be done but has false +ve's .
107
Cows milk protein allergy
Typically affects kids < 1yrs. (Should grow out of it by age 3)
It is an IgE mediated hypersensitivity to the protein in cows milk (different from lactose intolerance which is mainly GI symptoms).
Sx = Bloating, wind, abdo pain, diarrhoea, vomitting, urticaria, angiodema, cough, wheeze, eczema.
Diagnosis = clinical diagnosis. can do skin prick testing.
Avoid cows milk - if breastfeeding then mum needs to avoid them too. If formula fed then give hydrolysed formula or elemental formula.
Gradually ween back onto it every 6 months
108
Which test can confirm anaphylaxis
Serum mast cell tryptase (must be done within 6hrs of event)
109
Throat examination is contraindicated in which respiratory conditions?
Croup
Epiglottitis
- due to risk of obstruction §
110
Which babies should receive the BCG vaccine
Those born to parents with a history of TB
Those born in country/area with high rates of TB
111
types of Innocent murmur in children
Ejection murmurs
Venous hums
Still's murmur (low pitched sound at left lower sternal border)
112
Features of a benign/innocent ejection murmur
Soft blowing murmur in pulmonary area or short-buzzing murmur in aortic area
may vary with posture
No radiation
no diastolic component
no thrill
no added sounds
asymptomatic
113
Projectile vomitting at 2-7 weeks of age
Pyloric stenosis
114
Pyloric stenosis
Hypertrophy + narrowing of the pyloric sphincter causing ejection of food and projectile vomitting.
Typically presents in first week weeks of life with projectile vomitting in a thin, pale hungry baby.
May feel a round firm mass in the abdomen (like an olive).
115
What would a blood gas show in pyloric stenosis
Metabolic alkalosis (due to removal of acid from the stomach during vomitting)
116
Diagnostic investigation for pyloric stenosis
Abdo USS
117
Management of pyloric stenosis
Laparoscopic pylorotomy (Ramsted's operation)
118
Signs of GORD in a baby
Distress following feeds
chronic cough
hoarse cry
reluctance to feed
poor weight gain
Epigastric pain / bloating
119
Management of GORD in babies
Reassurance + advice (small meals, burping regularly, keep upright after meals)
Gaviscon
Thickened milk/formula
omeprazole if bad
120
Sandifer's syndrome
A rare condition causing brief episodes of abnormal movements associated with GORD in infants.
- Torticollis (neck contraction)
- Dystonia
121
Causes of intestinal obstruction in infants
Meconium ileus
Hirschprung's disease
oesophageal atresia
duodenal atresia
intussuception
Imperforate anus
Volvulus
Hernia
122
Clinical presentation of intestinal obstruction
Bilious vomitting
colicky abdo pain
Abdominal distension
Absolute constipation
Abnormal bowel sounds - initially tinkling + then absent
123
Biliary atresia
Congenital narrowing of the bile duct resulting in cholestasis (conjugated bilirubinemia)
Sx = typically presents shortly after birth with jaundice (suspect in any baby with jaundice lasting >14 days)
Mx = Surgery
124
Intusussception
where the bowel invaginates in on itself leading to obstruction. Typically presents in infants 6months - 2years.
Sx = severe colicky abdo pain & abdo distension. "red currant jelly stool" is classic + may have a RUQ sausage shaped mass.
Invx = Ultrasound (shows a target like mass)
Contrast enema may also be useful
Management = Radiological reduction (using air - like an enema).
Surgical resection if becomes gangrenous or perforated.
125
Features of appendicitis
Abdo pain - initially central then localises to mcburneys point (RIF)
Rosving's sign (LIF palpation reproduces RIF pain)
Abdominal guarding
rebound/percussion tenderness
pain when standing on the right leg.
126
Meckel's diverticulum
Congenital diverticulum of the small intestine.
Rule of 2's;
- occurs in 2% of population
- Is 2ft away from ileocecal valve
- is 2 inches long
The most common cause of painless rectal bleeding in children aged 1-2
imvx = 99 Technetium scan
127
Vaccination schedule
Birth - BCG vaccine if TB risk
2 months - 6 in 1 + PCV + Rotavirus (oral) + men B
3 months - 6 in 1 + PCV + Rotavirus
4 months - 6 in 1 + Men B
12-13 months - Men B + Men C + PCV + Hib + MMR
2 - 8years = Annual flu vaccine
3-4yrs - 4 in 1 + MMR
12-13 years = HPV
13-18yrs = 3 in 1 + Men ACWY
128
Components of the 4 in 1 vaccine
Given at 3 - 4 years (pre-school booster)
1. Diptheria
2. Tetany
3. Polio
4. Whooping cough
129
Components of the 3 in 1 vaccine
Given at 13-18 years (high school booster)
1. Diptheria
2. Tetany
3. Polio
130
Malaria
Mainly caused by plasmodium falciparum - the other types cause a benign malaria
Sickle-cell, G6PD deficiency, Duffy antigen deficiency + HLA-B53 are protective.
Features;
- Acidosis
- Pyrexia > 39
- Severe anemia
Blood film shows Schizonts
131
Complications of malaria infection
Cerebral malaria
Blackwater fever (--> Acute renal failure)
ARDS
Hypoglycemia
DIC
132
Typhoid fever
Caused by salmonella type
It is an enteric fever - producing systemic symptoms
Sx = Sytemic upset (fever, malaise + headache)
Abdo pain
Rose spots (on the trunk)
133
Dengue fever
Viral infection caused by RNA virus - Flavivirus
Spread by the Aedes mosquito
- Common in the carribean!! :(
Features;
- Fever, headache, malaise
- Bone pain + Arthralgia
- Pleuritic chest pain
- Maculopapular rash + haemorrhagic manifestations e.g petechiae, purpura, ecchymosis etc
134
What organisms most commonly cause meningitis
Neisseria meningitidis (meningococcus) = gram -ve diplococcus
Streptococcus pneumoniae (more common in neonates)
135
NICE indications for lumbar puncture / suspected Meningitis
< 1 month with a fever
1-3 months with fever + are unwell
<1 year with unexplained fever + signs of illness
136
Special tests for meningitis
Kernig's - flex one hip + knee to 90 degrees and slowly straighten it - will cause pain or resistance
Brudzinski's = flex chin to chest - will cause involuntary flexion of hips + knees if positive.
137
Management of suspected meningitis in primary care setting
IM or IV benzylpeneckllin + immediate transfer to hospital
138
Management of suspected meningitis in hospital
1. Blood culture + Lumbar puncture
if this cannot be done within 1 hour - start the antibiotics.
Antibiotics;
- if < 3 months = cefotaxime + amoxicillin
- if > 3 months = Cefotaxime/Ceftriaxone + Dexamethasone
Give vancomycin too if recent travel outside of UK or prolonged Abx use
139
Contraindications to Lumbar puncture
Signs suggesting raised ICP (E.G reduced conciosness, Bradycardia + HTN, Neurological signs, Papillodema, pupil signs)
Shock
Extensive purpura
Coagulation abnormalities / thrombocytopenia
DIC
Bulging fontanelles
140
Lumbar puncture findings in Bacterial meningitis
Cloudy appearance
High protein, Low glucose
High WCC (neutrophils mainly)
*Whereas viral would be clear, normal protein + glucose with High Lymphocytes.
141
Most common causes of viral encephalitis
Herpres simplex virus (HSV) - Type 1
or type 2 in neonates
- others = varicella zoster, CMV, EPV, enterovirus
142
Glandular fever
Caused by EBV
'kissing disease' - transmitted by saliva.
Sx = Sore throat, fever, lymphadenopathy, tonsillar enlargement, splenomegaly + Itchy maculopapular rash after taking amoxicillin/cefaosporins
invx = Heterophile antibodes via monospot or paul-hunnell test.
Management = Lasts 2-3 weeks though fatigue may persist for months. Avoid alcohol + contact sports.
Complications = Haemolytic anemia + GN + Thrombocytopenia + Burkitt's lymphoma.
143
Mumps
Incubation - 2-3 weeks
Sx = prodromal flu like illness + parotid swelling + fever + reduced appetite + orchitis
Dx = PCR testing
Management = notify PHE + supportive management
144
Measles
Prodromal flu like illness
Followed by Koplik spots = white spots on buccal mucosa
Then get a discrete maculopapular rash starting on the face + behind the ears.
Diarrhoea
Infective from prodrome until 4 days after the rash.
Dx = IgM antibodies
Management = notify PHE, school exclusion until 4 days after rash.
145
Scarlet fever
Cause = Group A Streptococcus
usually affects children aged 2-6yrs
Sx = Typically a sandpaper type rash (fine, pin head rash over torso, fingers + toes) occuring 1-2 days after tonsillitis. + Strawberry tongue or white coated tongue + fever. Child will be very unwell.
Dx = throat swab
Management = Oral Benzylpeneillin for 10 days and return to school 24hrs after starting.
146
Common complications of scarlet fever
Rheumaic fever (typically 20 days after)
otitis media
glomerulonephritis
147
Complications of meningitis
Sensorineural hearing loss
Seizures
Waterhouse freidrichson syndrome (adrenal infections)
148
Macular rash starting on the trunk and then spreading wider and becoming vesicular is descriptive of which childhood rash
Chickenpox
149
Management of chickenpox
Calamine lotion to prevent scratching the vesicles
School exclusion until all lesions have crusted over
Aciclovir needed in neonates or immunocompromised or pregnant >20wks gestation
150
Hand foot and mouth disease
Caused by Cocksackie A16
Very contagious
Sx = vesicles on palms & soles of feet + Mouth ulcers + Systemic upset.
Management = Reassurance + supportive treatment (no exclusion required)
151
Kawasaki disease diagnostic criteria
Fever > 5 days +
- Bilateral non-purulent conjunctivitis
- Polymorphous rash
- Cervical lymphadenopathy
- Peripheral desquamation (peeling of hands/feet)
- Strawberry tongue
152
Management of kawasaki disease
High dose aspirin
IV immunoglobulin
Echocardiogram is important to screen for any coronary artery aneurysms ( the main complication to watch out for)
153
Roseola infantum
Caused by Human herpes 6 virus
Presents age 6months - 2yrs typically
Features = Child with rash + febrile convulsions!!!
- Maculopapular rash
- Nagayama spots = Spots on uvula + soft palate
154
Steven johnson syndrome
An immune response causing epidermal necrosis leading to blistering + skin shedding.
Common causes = Anti-epileptics, Antibiotics, Allopurinol + NSAIDs + viruses e.g HSV
Management = medical emergency requiring Steroids + Immunosupressants + Immunoglobulins
155
Rubella
Coryzal symptoms followed by a maculopapular rash starting on the face + neck and spreading down body with Cervical lymphadenopathy.
Management = school exclusion for 5 days after onset of rash.
156
Differences between necrotising enterocolitis + intususspetion
whilst both may cause red currant jelly stools, necrotising enterocolitis is typical in neonates (first few weeks of life) whereas intususspetion typically occurs 6months - 2 years.
Also Abdo xray in intususspetion would show intestinal obstruction whereas in necrotising enterocolitis it is more likely to show gas cysts.
157
DDH Risk factors
Structural abnormality of the hips leading to instability and increasing risk of subluxation/dislocation.
Risk factors = Breech presentation (>36 weeks or at birth if 28weeks +) / Multiple pregnancies / Fhx / oligohydramnios / first child / Body weight >5kg / calcaneovalgus foot deformity
158
Screening for DDH and suggestive signs;
Screened for during the NIPE exam and 6-8week baby check using barlow and Ortolani's tests.
Signs;
- Different leg lengths
- Restricted hip abduction
- Difference in knee level when knees and hips are flexed
- Clunking of hips during barlow/ortolani's
- asymetrical skin folds
159
How to perform Barlow / Ortolani's tests
Barlows = apply downward pressure on flexed hips + knees to see for any posterior dislocation.
Ortolani's = Gently abduct the hips whilst applying the downward force to see if any anterior dislocation occurs (or if they sort of clunk back into place)
160
Investigations/diagnosis of DDH
Ultrasound - all children with risk factors or positive examination findings should get this within 6 weeks
161
Management of DDH
1. Pavlik harness - kept on permananetly for 6-8weeks
2. If the harness fails then surgery may be required followed by immobilisation using a spica cast
162
Most common causes of hip pain in children according to age category (0-4yrs, 5-10yrs, 10-16yrs)
0-4yrs = Septic arthritis, DDH or Transient synovitis
5-10yrs = Septic arthritis, Transient synovitis or Perthes disease
10-16yrs = Septic arthritis, Slipped upper femoral epiphysis or Juvenile idiopathic arthritis
163
Red flags of paediatric hip pain
Child < 3yrs
Fever
Waking at night with pain
Weight loss / Anorexia / Night sweats
Fatigue
Morning stiffness
Swollen or Red joint
164
NICE referral criteria in hip pain
Age <3yrs
Age >9 years with restricted ROM
Severe pain
Presence of Red flags
Neurovascular comprimise
inability to weight bear
Suspicion of abuse (e.g delayed presentation or excessive bruising)
165
Perthes disease
= Avascular necrosis of the femoral head
Typically affects children aged 5-12yrs and. ismore common in boys
**Sx;**
* Hip or Groin pain
* Limp
* Restricted ROM
* Referred pain ot the knee
*The main feature to consider is an ABSENCE of trauma (if there is a history of trauma then consider SUFE)
Invx = Xray. If this is normal but pain persists consider doing an MRI
## Footnote
Over time there is revascularisation and healing of the femoral head causing bone remoddeling leading to a soft and deformed femoral head
166
Staging system used in Perthes disease
Caterall staging
## Footnote
Stage 1 = clinical + histological features only
Stage 2 = Sclerosis ? cystic changes but preservation of athe articular surface
Stage 3 = loss of femoral head structural integrity
Stage 4 = loss of acetabular integrity
167
Management of perthes disease
Age <6yrs. =Conservative management - bed rest, analgesia, crutches, reduce risk of damage. May use cast to secure the femoral head in the acetabulum.
Regular Xrays may be used. toassess healing
Surgery may be needed in severe cases or older patients or where there is deformity
168
Cause of hip pain in a 12yr old overweight male.
Slipped upper femoral epiphysis
## Footnote
= this is where the head of the femur is displaced along the growth plate. Typically presents with obese male undergoing a growth spurt and a history of minor trauma. Suspect this when the pain is disproportionate to the level of trauma.
Sign = loss of IR
Ivx = Xray
Management = Internal fixation.
169
Complications of Slipped upper femoral epiphysis
Osteoarthritis
Avascular necrosis
Chondrolysis
Leg length discrepency
170
Transient synovitis
"irritable hip"
Typically affects children aged 2-10yrs
Often associated with a recent viral URTI (no current fever)
Sx = Inability to weight bear
Invx = Xray (increase. inmedial joint space).
*note - if any doubt or any fever present then refer due to risk of septic arthritis
Mx = manage in primary care but if a fever develop smust go to A+E. Follow up in 1 week. (should resolve in 1-2 weeks.)
## Footnote
= temporary irritation/inflammation in the synovial membrane of the joint.
171
Osteomyelitis
Cause = **staph aureus**
Sx = Refusal to weight bear + pain + swelling + tenderness + low grade fever
Invx;
* 1st line Xray but this may be normal so do MRI or bone scan to confirm.
* Bloods show raised CRP, ESR & WBCs
* Blood cultures
* Bone marrow aspiration or biopsy may be needed
Mx = Prolonged antibiotics. Surgery may be required for debridement.
## Footnote
More commin in boys <10yrs. Open bone fracture, recent ortho surgery or immunocomprimised patients are more at risk.
172
Osteosarcoma
Typically pt aged 10-20yrs
Most common in femur, then tibia or humerus.
Sx = persistent bone pain + Worse at night + waking from sleep + bone swelling / palpable mass + restricted ROM.
Invx = Urgent Xray <48hrs for any child presnting withunexplained bone pain or swelling.
Bloods may show raised ALP
CT, MRI, PET scan + biopsy needed for confirmation and staging.
Mx = Often surgical resection or amputation + adjuvant chemotherapy.
## Footnote
= Most common primary malignant bone tumour occruing most frequently in the metaphyseal region of long bones after epihyseal closure.
173
Xray shows Poorly defined bone lesion with a "fluffy appearance", periosteal reaction with a 'sun-burst' look and Codman triangle - what is the diagnosis?
## Footnote
Osteosarcoma - due to destruction or normal bone and irritation of the bone lining.
Small round blue cell tumour in a child with 'onion skin' appearance
## Footnote
Ewing's sarcoma
Occurs most frequently in long bones or the pelvis
Xray shows an onion skin appearance
174
Which paediatric bone cancer is associated with a t(11:22) translocation
Ewing's sarcoma
175
Young child with unusual and recurrent fractures. Their eyes have a blue sclera
Osteogenesis imperfecta
## Footnote
= genetic condition resulting in brittle bones due to a collagen mutation.
Pts will likely have dental problems, ear problems, bowed legs, scoliosis, hypermobility and joint pan. Cannot be cured but vit D supplementation +bisphosphonates are needed to protect bone health.
176
Hypospadius management
Mild cases do not need treatment
Surgery done at 12 months
NOTE - pt with hypospadius cannot have circumcision.
177
Indications + Contraindications for circumcision
Indications;
* Phimosis
* Recurrent balantitis
* Paraphimosis
* Balantitis xerotica obliterans
Contraindications = Hypospadius
178
At what age should an undescended testicle be managed
Consider referring to urology at 3 months of age but don;t do orchidoplexy until 6months of age
However if its bilateral then urgent referall to paeds is needed.
179
Posterior urethral valves
Causes a back pressure + hydronephrosis.
Can be picked up on antenatal scan - as may cause oligohydramnios (leading to lung hypoplasia)
Sx = Recurrent UTI's or hydronephrisis / weak stream or difficulty passing uerine.
INVx = USS abdo + MCUG needed (this can diagnose the extra tissue + reflux)
Mx = observation / temporary catheter / cystoscopy ablation (both diagnostic + therapeutic)
180
What is the best investigation to show reflux of urine
Micturating cystourethrogram
181
Differentiation between syncope & seizure
Syncope;
* Prolonged upright position before event
* **Lightheaded feeling** before
*** Sweating** before event
* Blurring or clouding or vision before event
* **HypOtonia **
* Return of conciosuness shortly after falling
Seizures;
* **Epilepsy aura** (smells, tastes, deja vu) before event
* Head turning / abnormal limb positions
* Tonic clonic activity
* Tongue biting
* Cyanosis
* May have a long duration >5 minutes.
* Prolonged **post-ictal period **
## Footnote
It is important to note than myoclonic jerks can ALSO occur in syncope however the key differentiation is that syncope begins with loss of conciousness and then jerky movements wheras seizures are instant onset of myoclonic jerking.
Also eye involvement can occur in both - syncope is more commonly associated with vertical deviation (eyes rolling back into head) whereas seizures are more horizontal deviation or blank stare.
182
Infantile spasms
Typically occur in children age 6 months
Causes clusters of full body aspsm - starting with neck flexion and then arm extension.
Last a few seconds but can occur up to 50 times.
Pt may have LDs
EEG = Hysparrythmia
183
Which type of childhoood epilepsy shows slow spikes on EEG
Lennox gastaut syndrome
## Footnote
Atypical absence seizures with falls and jerks typically occuring in children aged 1-5yrs.
May be an extension of infantile spasms
Mx = Keto diet
184
Janz syndrome
Juvenile myoclonic epilepsy.
Typical onset - teenage girls.
May only happen with sleep deprivation e.g in the morning.
Daytime abscence.
185
Which epilepsy causes centrotemporal spikes on EEG
Benign rolandic epilepsy
## Footnote
typically occurs in children aged 4-12yrs and may often occur at night!!
Typically partial seizures causing a paraesthesia but can become generalised tonic clonic seizures.
186
Craniosyntosis
Premature fusion of the skull sutures which can result in raised ICP and abnromal head shape.
## Footnote
Sagittal = long and narrow head from front-back
Coronal = Bulging on one side of the forehead
Metopic = pointy triangular forehead
Lamboid = flattening on one side the occiput
187
Plagiocephaly/brachycephaly
Abnromal head shape typically due to position of sleep.
Plagiocephaly = flattening of one area of the babys head
Brachycephaly = flattening of the back of the head.
Mx. =exclude craniosyntosis and then position the baby on rounded side for sleep oto even if out.
188
Duchenne's muscular dystrophy
| Sx + Features + Management
**X linked recessive** condition caused by a mutation in the dystrophin gene.
Sx = typically a** 3-5y/o boy with limb girlde weakness** e.g the pelvis.
* Progressive muscle wasting
* Calf muscle hyperplasia (compensation)
* **Gower's sign **
* 30% have an intellectual disability
Life expectancy = 25-35yrs with good management of cardiac and respiratory complications.
Mx = can give oral steroids + creatinine supplementation to slow muscle weakness.
189
Which muscular dystrophy typically presents at age 8-12yrs
Becker's musclar dystrophy
## Footnote
Presents similarly to duchenne's however the dystrophin gene is less severely affected so symptoms may be more mild
190
Child with facial muscle weakness and wasting/weakness to his shoulders and arms. He typically sleeps with eyes open and pursed lips and is unable to blow his cheecks out.
Fascioscapulohumeral dystrophy
191
Causes of cerebral palsy
Antenatal - Maternal infections / trauma during pregnancy
Perinatal = Birth asyphxia / pre-term birth
Postnatal = meningitis/ severe neonatal jaundice / head injury
192
Types of cerebral palsy
1. Spastic hypertonia = increased tone (due to UMN). Can be monplegic, hemiplegic, diplegic or quadriplegic.
2. Dyskinetic = Hyper & hypotonia (resulting from basal ganglia damage) - abnormal posturing, involuntary movement etc.
3. Ataxia. -due to cerebellar damage
4. Mixed - if all are affected.
193
Clinical presentation of cerebral palsy
Often presents during early development with failure to meet milestones and altered muscle tone.
Having early hand preference (i.e before age 2-4) is often a sign of CP.
May present with cooridination, speech or walking difficulties.
194
What medication can be given to patients with cerebral palsy to reduce spasticity
Baclofen - GABA agonist
195
Spinal muscular atrophy
Rare autosomal recessive condition causing LMN damage = progressive muscular weakness
Type 1 = most severe, early onset + usually die by age 2
Type 2 = most common. Onset within 18months of life. Survival into adulthood but most will never walk
Type 3 = Onset 1yr+. Eventually lose the ability to walk
Type 4 = Onset in 20's.
## Footnote
Causes LMN signs e.g fasicultations, reduced muscle bulk, hypotonia, reduced power and reduced reflexes.
196
Vulvovaginitis
Irritation of the vagina typically in girls aged 3-10yrs.
Cause = wet nappies / use of chemical soaps / tight clothing / poor hygeine / constipation / threadworms etc
Invx = urine dipstick may show leucocytes (in the absence of nitrates this is not a UTI therefore supports vulvovaginitis)
Mx = enocurage good hygeine etc
197
Management of UTI in children
Age <3 months = IV antibiotics (all children <3months with a fever need antibiotics) + Sepsis screen
Age >3 months + systemically well = oral Abx e.g trimethoprim
198
Investigation guidelines for UTI in children
USS;
* All children age <6 months should have a USS within 6 weeks (urgent if atypical)
* Abdo USS for any child with recurrent UTIs
DMSA scan
* 4-6 months after illness in atypical or recurrent UTis to asses for damage
MCUG if suspecting reflux.
199
Shaken baby triad
1. Retinal haemorrhages
2. Subdural haeatomas
3. Encephalopathy
200
Management of nocturnal enuresis
1. Rule out other causes e.g diabetes, UTIs or constipation
2. General advice e.g emtpy bladder before bed, limit fluid intake
3. 1st line = enuresis alarm / behaviour reward systems
4. Desmopressin can be used for short term control e.g sleepovers
201
When should a child be able to dress and undress themselves
Age. 4yrs.
202
If a child cannot sit unsuppported by what age you should refer
12 months
203
Wilm's tumour
Kidney tumour typically affecting children age <5years.
Associations = Beckwith-widemann syndrome (overgrowth) + WAGR syndrome
Sx;
- Consider in any child <5yrs presenting with abdominal mass
- Abdo/flank pain
- Haematuria
- Lethargy
- Fever
- Hypertension
- Weight loss
Diagnosis = Abdo USS
Mx = nephrectomy + adjuvant chemo/radiotherapy
204
Most common type of leukemia in children
Acute lymphoblastic luekemia
205
Severe combined immunodeficiency
a syndrome caused by a number of genetic disorders resulting in absent/dysfunctioning T and B cells.
Presentation;
* Diarrhoea
* Failure to thrive
* opoortunistic infections e.g chickenpoz, pneumocystis jiroveci + CMV - cause a worse response than in normal children
* Illness following live vaccines e.g BCG, MMR and Flu
* omenn syndrome (alopecia - RAG1/RAG2 mutation)
## Footnote
Most. arecaused by mutation in the gamme chain on the X chromosome
206
# Catch 22
DiGeorge syndrome Features
Congenital heart disease (ToF)
Abnormal facies
Thymus gland incompletely developmened (immunocomprimised)
Cleft palate
Hypoparathyroidism (& Hypocalcemia)
22nd chromosome
207
# TINERC
Wiskott aldrich syndrome
Thrombocytopenia
Immunodeficiency
Neutropenia
Eczema
Recurrent infections
Chronic bloody diarrhoea
## Footnote
X linked recessive condition with mutation in the WAS gene = abnormal functioning of T cells
208
Cyanotic baby with no audible mumur, Loud S2 + prominent vetricular pulse
Transposition of the great arteries
209
Definitive diagnostic test for duchennes muscular dystrophy
Genetic testing
210
Management of threadworms
Single dose of mebendazole for the whole household + hygeine advice.
| NOTE. -do not give mebendazole for children <3months
211
Features of a typical UTI
Poor urine flow
Seriously ill
Abdo or pelvic mass
Raised creatinin
septicemia
Failure to respond to antibiotics in 48 hours
infection with non E.coli organisms
212
Features of dyskinetic cerebral palsy
Athetosis - slow writhing movements of distal extremities
Oro-motor problems e.g drroling
Fluctuation in muscle tone - i.e difficulty holding objects
213
Which vaccinations are recommened in pregnancy
Pertussis and Hib (flu)
214
What is the most common cause of ambiguous genitalia in newborns
Congenital adrenal hyperplasia
215
What would an ABG show in pyloric stenosis
Hypochloremic hypokalemic metabolic alkalosis
216
What must be monitored in children taking methylphenidate
Height and weight
217
what organism causes threadworms
enterobirus vermicularis
218
Causes of short stature
* Familial
* Constitutional delay in puberty
* Chronic illness e.g Coeliac
* Syndromes
* Skeletal dysplasias e.g achrondoplasia
* Neglect / Malnutrition
* Endocrine causes e.g hypothyroid, GH deficiency, IGF-1 deficiency, steroid excess
* Methyphenidate use (ADHD)
* Extreme prematurity
219
Growth hormone deficiency
Causes;
* Congenital - problems at the hypothalmus or pituitary e.g GH1 or GHRHR mutations, empty sella syndrome (underdeveloped pituitary) or hypopituitarism. Prader-willi & Turner's syndrome also
* Acquired; Craniopharyngioma, trauma, meningitis, surgery etc
Sx. = Micropenis / Hypoglycemia / Neonatal jaundice
In older children it may persent as poor growth, small stature and delayed puberty.
Invx = Growth homrone stimulation test
MRI brain for pituitary or hypothalamic problems
220
Achondroplasia
Inheritence = autosomal dominant (mutation in FGFR-3 gene)
Signs = Rhizomelia (short limbs) / Macrocephaly + frontal bossing + narrow froamen magnum / bracydactyly / Midface hypoplasia + flattened nasal bridge / Trident hands / Lumbar lordosis
221
When do girls start puberty
8-14yrs
Boys = 9-15yrs
222
Staging system for puberty
Tanner staging
Girls = breast buds - pubic hair - menstruation (2yrs after start of puberty)
Boys = testicular enlargement - penile enlargement - darkening of scrotum - pubic hair - deepening of voice
223
Causes and indications of precocious puberty in boys
= puberty < 9 years
Testicular size gives an indication of the cause;
1. Bilaterally large = intracranial tumour or normal early development
2. Unilaterally large = gonadal tumor
3. small - adrenal cause
224
True precocious puberty vs pseudo precocious pubtery
True = Early activation of the HPG axis. **FSH & LH will be raised **
Pseudo = Due to excess sex hormone. **FSH. &LH will be low **
225
Causes of delayed puberty by height
Short stature;
1. Turner's syndrome
2. Noonans syndrome (male version of turners)
3. Prader-willi
Normal stature;
1. PCOS
2. Androgen insensitivity
3. Kallman syndrome
4. Kleinfelters
226
Androgen insensitivity syndrome
When genotypically males (46XY) have female phenotype
Features = Primary amenorrhoea + undescended testes causing groin swellings / lack of pubic hair
Invx = Buccal smear / chromosome analysis
After puberty tesosterone levels may be midly raised compared to post-pubertal boys.
Management - counselling + bilateral orchidectomy + oestrogen therapy
227
Turners syndrome
Presence of only one X chromosome - 45XO / 45X
Features = Widely spaced nipples / Webbed neck / Short stature / Primary amenorrhoea / High arched palate / Short 4th metacarpal / Multiple naevi
228
Turner's syndrome associated conditions
1. Bicuspid aortic valve / Coarctation of the aorta
2. Cystic hygroma
3. Lymphodema in neonates
4. Hypothyroidism
5. Horseshoe kidney
6. Autoimmune disease eg coeliac
229
Noonan syndrome
Essentially the male noonans. Caused by an autosomal dominant mutation on chromosome 12.
Features = similar to turners (widely spaced nipples short stature, pectus carinatum) +
* Pulmonary stenosis
* Ptosis
* Triangular shaped face
* Low set ears
* Factor XI deficiency
230
Kallman' syndrome
A cause of secondary amenorrhoea due to hypogonadrotropic hypogonadmism. Thought to be due to failure of GnRh secreating neurons to igrate to hypothalamus.
Features = delayed puberty in boys with anosmia. + hypogonadmism/cyrptochoridsm + Low sex hormone levels + low-normal FSH/LH
*Cleft palate + hearing/vision loss also may be seen
Management - tesosterone replacement
## Footnote
Inheritence = X linked recessive
231
Prader-willi syndrome
Microdeletion of **paternal 15q11-13
**
Inhertience = **genetic imprinting** (if gene is deleted from father = prader-willi, if gene deleted from mother = angelmann)
Features = Hypotonia / short stature / hypogonadism / LDs Incurable hunger / dysmorphic features
232
# Think Tom
Kleinfelters
When male has additional X chromosome (47 XXY)
Features. =tall, wide hips , gynaecomastia , small testicles, reduced libido, weak muscles, shyness
233
Hypogonadotropic hypogonadism
Hypogoandism = lack of sex hormones (oestrogen & tesosterone) leading to pubertal delay.
Hypogonadotropic hypogonadism = a deficiency of LH + FSH causing lack of sex hormones.
Cause = usually the result of abnormal hypothalamic/pituitary functioning
* GH deficiency
* Hypothyroidism
* Hyperprolactinemia
* Excessive exercising / dieting
* damage e.g radiotherapy
* Kallman syndrome
234
Hypergonadotropic hypogonadism
= failure of the gonads to respond to stimulation from gonadotropins (High LH/FSH but low oestrogen/testosterone)
Causes =
* Previous damage to gonads e.g testicular torsion, cancer, infections
* Congenital absence of testes or ovaries
* Kleinfelters or Turner's
235
When/how to investigate hypogonadism
When no pubertal changes are seen in girl aged 13 or boy aged 14.
Bloods: FBC, Ferritin, U&E, TFTs, Anti-TTG
Hormonal blood tests = Early monring FSH/LH / GH testing - IGF-1 / Serum prolactim
Genetic testing with microarray - klenifelters/turners
Imaging - Wrist Xray (bone age) + Pelvic ultrasound (ovaries) + Brain MRI (pituitary or olfactory bulbs in kalmans)
236
Marasmus
Severe protein-energy malnutritionin children.
Features = Weight for height <70% / wasted appearance / Skinfold thickness reduced / withdrawn + apathetic
237
Kwashiokor
Severe protein malnutrition
Features = generalised oedema + severe peripheral wasting / flaky paint skin rash + hyperkeratosis + desquamation / distended abdoemn + hepatosplenogaly / stomatitis / sparse hair / hypotension + bradycardia
238
Trisomy 13
Patau's syndrome
## Footnote
Features = IUGR / Microcephaly / Scalp lesions / Cleft palate / Micropthalmia / Polydactyl / absent eyebrows / undescended testes / rockerbottom feet
50% die within 7 days, 90% within infancy.
Associations = structural brain defect, omphalocela, curtis aplasia, severe LDs
239
Edwards syndrome
Trisomy 18
## Footnote
Features = IUGR / Microcephaly / Low set ears / rocker-bottom club feet / overlapping fingers / Prominent occiput
240
Fragile X syndrome
Long-narrow face + large ears / Hypermobility / speech & language delay + ADHD + Autism + Seizures
## Footnote
Cause = X linked recessive mutation of FMR1 chromosome. Normal life expectancy
241
Angelman syndrome
Cause = loss of UBE3A gene
Features = happy demeanor / wide mouth / widely spaced teeth / fascination with water / constant hand flapping / autism
242
Williams syndrome
Chromosome 7 deletion
Features = Starbust eyes / wide mouth with big smile / very socialble
Associated conditions = Supraventricular AS (regular echos) + Hypercalcemia (low calcium diet)
243
Fetal alcohol syndrome features
Features = Microcephaly / hypoplastic upper lip / short palpebral fissures / saddle shaped nose / absent philtrum
244
RED signs on the NICE traffic light system
* Pale, mottled or blue skin
* Unrousable
* Weak or high pitched cry
* Grunting
* RR >60
* Chest indrawing
* reduced skin turgor
* Temp >38
* Signs of meningism or focal neurology.
