Paeds Mx 2 Flashcards
1
Q
Bronchiolitis
A
- Bronchiolitis is a condition characterised by acute bronchiolar inflammation. Respiratory syncytial virus (RSV) is the pathogen in 75-80% of cases (adeno/myco)
- It is the most common cause of a serious lower respiratory tract infection in < 1yr olds (90% are 1-9 months, with a peak incidence of 3-6 months).
- Coryza for 3 days -> SOB, DRY cough, WHEEZE
Ix: Pulse Ox is first line. Consider ELISA or rapid-antigen testing (RAP) can identify the causative agent which may be useful in infection control of a cohort in a hospital setting.
Immediate referral to hospital:
- Grunting or severe resp distress, marked chest recession, RR>70
- <92% o2 sats
- Central cyanosis
- Apnoea
- Child looks seriously unwell
Consider hospital referral:
- Signs of dehydration (or 50-75% of normal fluid intake)
- > 60 RR
In hospital:
- Largely supportive (oxygen box if <92% sats), CPAP if impending resp failure
- Consider airway suctioning if secretions disturbing feeding or causing resp distress
- Give fluids by NG if they can’t take by mouth.
Cx: Rarely, this causes permanent damage -> bronchiolitis obliterans
2
Q
Anaphylactic Management
A
ABC
Airways -> check for obstruction
Breathing -> If not breathing commence CPR + notify advance life support.
If they are breathing, do not commence CPR. Check for circulatory collapse signs and angioedema/urticaria.
Place in comfortable position and give IM adrenaline( 1:1000 into anterio-lateral aspect of thigh. Assess response after 5 min. Repeat in 5 min until there is adequate response.
Give high flow oxygen, fluids (20ml/kg crystalloids)
Do not give IV adrenaline if in primary care. IV chlorphenamine 10mg and IV hydrocortisone 200mg.
- = <6 years - 150micrograms (0.15ml)
6-12 years 300 micrograms (0.3ml)
>12 years 500mcg (0.5ml)
CHOAF - chlorpheniramine, hydrocortisone, oxygen, adrenaline and fluids
3
Q
Cyanosis immediate mx
A
• In neonates it is commonly due congenital heart disease
o ABCDE approach
§ Oxygen saturation should be maintained >90%
§ Ventilation e.g. nasal CPAP should be considered
§ Fluids if hypotensive and shock
§ Antibiotics if evidence of sepsis or pneumonia
o Start prostaglandin infusion (5 ng/kg per min) to maintain ductus arteriosus patent.
o If suspected CHD, refer to tertiary care centre immediately
§ Treatment balloon atrial septostomy.
4
Q
Neonatal Resuscitation Guidelines
A
Dry the baby, remove any wet towels and covers and start the clock or note the time
• Within 30s : assess tone, breathing and heart rate
• Within 60s: if gasping or not breathing – open the airway and give 5 inflation breaths
o Consider SpO2 and ECG monitoring
• Re-assess: if no increase in heart rate, look for chest movement
• If chest NOT moving: recheck head position, consider 2-person airway control and other
airway manoeuvres, repeat inflation breaths and look for a response
• If NO increase in heart rate: look for chest movement
• When chest is moving: if heart rate is not detectable or slow (< 60/min) ventilate for 30
seconds
• Reassess heart rate: if still < 60 bpm, start chest compressions with ventilation breaths (3:1)
• Reassess heart rate every 30 seconds: if heart rate is not detectable or slow (< 60/min)
consider venous access and drugs (e.g. atropine)
5
Q
Paediatric BLS
A
Unresponsive -> Shout for help, open airway, if not breathing normally give 5 rescue breaths.
Check for signs of life for 10s. (brachial and radial pulse)
Still no sign of life, start chest compressions 15 then 2 and repeat. (Speed should be 100-120 compression pm rate)
6
Q
High risk
A
Behaviour:
No response to social cues, Appears ill, Does not wake, or if roused does not stay awake, Weak, high-pitched and continuous cry
Tachycardia (different at different ages)
< 60 bpm at any age
Respiratory Rate
§ Tachypnoea (different at different ages), Grunting, Apnoea, SpO2 < 90% on air
Skin: o Mottled or ashen appearance o Cyanosis of the skin, lips or tongue o Non-blanching rash o Aged < 3 months with temperature > 38 degrees o Temperature < 36 degrees
7
Q
Indications and CI for LP
A
Contraindications for LP: signs of raised ICP, focal neurological signs, shock, purpura
o Perform LP in the following children with suspected sepsis:
§ < 1 month
§ 1-3 months who appear unwell
§ 1-3 months with WCC < 5 or > 15 x 109/L
8
Q
Basic prinicipals of shock management
A
Fluid resuscitation 0.9% saline (20ml/kg) or blood if been in an accident. Repeat if there is no improvement. If still no improvement -> PICU and consider:
Tracheal intubation
Invasive monitoring of BP (arterial catheter)
Ionotropic support (increase strength of contractions)
Renal/liver failure support
9
Q
Hypoglycaemia management
A
Initially glucose 10–20 g (o) If necessary this may be repeated after 10–15 minutes. After initial treatment, a snack providing sustained availability of carbohydrate can prevent blood-glucose concentration from falling again.
Hypoglycaemia which causes unconsciousness or seizures is an emergency.
Give IV 10% glucose (maximum dose of 500 mg/kg of bodyweight (5 ml/kg))
If NOT in hospital: IM glucagon or concentrated oral glucose solution (e.g. glucogel). IM glucagon: 500 µg for < 8 years; 1 mg for > 8 years. Seek medical help if blood glucose remains low after 10 mins. Once symptoms improve, give oral complex long-acting carbohydrate.
10
Q
Raised ICP mx
A
Head positioned midline Head end of bed titled by 20-30 degrees Intubation/ventilation Mannitol or 3% saline as osmotic diuretics Maintain normothermia and High BP Extreme: shunt
11
Q
Status Epilepticus Definition
A
A seizure lasting 5* minutes or longer or when successive seizures occur so frequently that the patient does not recover consciousness between them. *new definition
12
Q
Status Epilepticus Mx
A
ABC and DEFG (if glucose under <3mmo/L give glucose IV and recheck blood glucose).
If we don’t vascular access, give a diazepam (PR) or midazolam (buccal) 0.5mg/kg as a trial and aim to get IV access and follow below protocol (only give lorazepam once)l. If you can’t obtain IV access, skip to the PR step.
If you have vascular access, you give lorazepam 0.1mg/kg IV. Repeat in 10 min if no response. If there is still no response in 10 in we give Paraldehyde 0.4ml/kg PR. If there is still no response in 10 min you call for senior help and give phenytoin 18mg/kg IV/IO over 20 min (unless the pt is on oral phenytoin in which case we give phenobarbital 15mg/kg).Call anaesthetist if there is no response in 20min and transfer to PICU for rapid sequence induction with thipoental.
13
Q
ALTE
Ix and Mx
A
Essentially a combination of frightening signs that an neonate might exhibit e.g. choking, colour change, apnoea, alteration in muscle tone etc. It might be due to the presentation of a serious disorder or resolve spontaneously. In most it is brief but you need to carry out thorough investigations and monitor overnight. Parents should be taught resus and will find it helpful to have a follow up from specialist peadiatric nurse.
Ix: Thorough screening in case. ECG -qtc conduction pathway abnormality. EEG. Lactate. U&Es. LP. Ba Swallow.
Lactate.
Aetiology: Infections, Seizures, GOR, Airway obstruction
Uncommonly:
Cardiac arrhythmia, Breath holding, Anaemia, Heavy wrapping, Central hypoventilation syndrome, Cyanotic spells
14
Q
SUDI
A
Sudden unexpected death in infancy. In some cases, a previously undiagnosed congenital abnormality e.g. congenital heart disease will be found at autopsy. Rarely a inherited metabolic disease is identified e.g. MCAD. After 1 month of age, in most instances, SUDI is attributed and classifid SIDS.
15
Q
SIDS
A
Sudden, unexpected death of a young child with no cause found at post mortem. Incidence has dropped dramatically during the last 20 years due to back to sleep campaign where infants are placed on thier back (not side) to sleep, overheating by heavy wrapping is avoided, and they’re placed a the botto mof their cot (so that they dont wriggle down under the blanket and overheat).
16
Q
SIDS risk factor
A
Infant Age 1-6 months, peak at 3 months LBW & preterm Multiple births Boy
Parents: Maternal smoking (doubles risk, if a pack a day risk ↑5x) Low income Overcrowded housing Maternal age <20 Single mother, high maternal parity
17
Q
SIDS Mx
A
Initiate resus unless inappropriate
Pronounce baby dead
Remove endotracheal tube and IO needles but retain venous line for blood culture and toxicology, metabolic screen ±chromosome screen
Urine culture
LP
Nasopharyngeal aspirate
Break news to parents and explain involvement of police and coroner. Allow them to hold the baby.
Police visit home within 24 hours
Postmortem
MDT where SUDI paedaitrician, police, GP ±social worker review informtion and consider neglecct or abuse
F/U and bereavement conselling
18
Q
Laryngomalacia
A
Presents with stridor (exacerbated when cries), afebrile and good weight gain!
Softening (malacia) of larynx, larynx is soft and floppy. Epiglottis is omega-shaped due to weak laryngeal muscle tone. This results in an inspiratory stridor.
This corrects 12-18 months
Ix: Laryngoscopy or Bronchoscopy (looking for omega shape)
Mx: Treatment is rarely required. Surgery sometimes needed where the shortened aryepiglottic folds are cut to correct the omega shape of the epiglottis.
Cx: If a child catches an infection, they can have exacerbation of the stridor and present with respiratory distress (intercurrent infection)
19
Q
Which of these are linked to Fragile X? MV Prolapse Bronchiectasis Supravalvular Aortic Stenosis Type II Diabetes Mellitus Pigmented Gallstones
A
Fragile X syndrome is an X-linked dominant trinucleotide repeat disorder. It is the most common X-linked cause of learning difficulties. It can lead to a range of complications including: mitral valve prolapse, pes planus, autism, memory problems and speech disorders.
(bronchiec- Kartagener’s, supravalvular aortic stenosis is Williams Syndrome)
20
Q
Pertussis Pathogenesis
A
Bordella Pertussis, g-ve coccobacilli.
Releases 3 toxins that helps adhere the bacterium to the epithelium: Filamentous haemaglutinin, pertactin, agglutin. They also paralyse cilia so that they can’t be swept away, using tracheal cytotoxin. The build up of mucous triggers violent coughing fits.
Pertussin Toxin is also released and this helps adhesion to epithelium and causes a T-cell lymphocytosis via trapping them in blood vessels and preventing them from entering infected tissue. This causes the airways to swell up and makes it harder for pt to breathe causing ‘whooping’ sound.
21
Q
Infants with pertussis
A
in infants, cough can be absent but there is apnoea, gasping, cyanosis. Severe hypoxaemia can result in seizures and encelaphathy and secondary pneumonia
22
Q
Pertussis Management
A
- Notify HPU
- Azithromycin within 21d of cough onset.
- Clari if neonate
- Admit if under 6 months
- Erythro if pregnant
- Proph abx to household also
- Return to school 48 hours after abx finish or 21d after symptom onset
NICE: In neonates, infants, and children, prescribe 10 mg/kg (to a maximum of 500 mg) once a day for 3 days.
Admission is not needed unless acutely unwell or neonate
23
Q
Pneumonia organisms
A
- Newborn – organisms from the mother’s genital tract, particularly group B streptococcus, but also Gram-negative enterococci
- Infants and young children – respiratory viruses, particularly RSV, are most common, but bacterial infections include Streptococcus pneumoniae or Haemophilus influenzae. Bordetella pertussis and Chlamydia trachomatis can also cause pneumonia at this age. An infrequent but serious cause is Staphylococcus aureus
- Children over 5 years – Streptococcus pneumoniae, Chlamydia pneumoniae and Mycoplasma pneumoniae,are the main causes.
- At all ages Mycobacterium tuberculosis should be considered.
24
Q
Pneumonia Mx + Admission criteria
A
In CAP, all children tend to be treated with oral amoxicillin 7-14 days as viral can’t be differentiated from bacterial. Children <2 with mild LRTI who’ve had prevenar vaccination do not usually get pneumonia and shouldn’t be given abx, review if sx persist.
Macrolide can be added if sx persist.
Co-amoxiclav is given if pneumonia associated with influenzae.
Only give IV abx if can’t tolerate fluids. (BTS guidelines 2011)
25
What actually is viral induced wheeze?
- Wheeze is VERY common in pre-school children.
- Has been classified into viral induced wheeze (wheeze when you have the viral URTI, wheeze-free between episodes) and multiple trigger wheeze (as well as viral wheeze they have other triggers)
- Viral induced wheeze is not associated with increased risk of asthma, but multiple trigger wheeze is.
- VIW Mx: Episodic only. SABA -> LKRTA and/or ICS ->
- MT Mx: 4-8 week trial of ICS or LKRTA.
10 puffs every 4hrs.
26
Asthma Attack Severity
Moderate - Normal Speech 50-70% PEFR
Severe - 33-50% PEFR. Can't complete sentence in one breath or feed. Accessory muscle use.
Life threatening - <33% PEFR. <92% PaO2. Reduced consc. Exhausiton. Arrthymia. HypOtension. Silent chest.
27
Mx Asthma Attack
Admit if severe/life threatening
- Give Oxygen to any hypoxia pt and aim for 94-98% sats
1. SABA Is first line
Nebulised with oxygen, 2.5mg if 2-5 or 5mg >5 (use MDI if nebuliser not available)
2. Tiotropium Bromide (10mg <2, 20mg if 2-5, 30-40mg >5)
Other: IV Mg sulphate, IV SABA or IV aminophylline but monitor ECG when adminstering.
Should be given to all children with asthma exacerbation
• Oral prednisolone should be given for 3-5 days
• 2-5 years: 20 mg OD
• 5+ years: 30-40 mg OD
28
Foreign body inhalation
C: Back blows (x5), Adomdinal thrust (x5) - not to be done in infants
S: Rigid bronchoscopy (stridor or radio-opaque object seen on CXR) or flexible bronchoscopy done under GA
29
Persistent bacterial bronchitis
o Main organisms: Haemophilus influenzae, Moraxella catarrhalis
o High-dose antibiotics (e.g. co-amoxiclav)
o Physiotherapy
30
Bronchiectasis
Ix: CT scan (best for bronchiectasis), bronchoscopy may be used if a foreign body is suspected
Mx: Exercise and improved nutrition, Airway clearance therapy (postural drainage, percussion, vibration, use of oscillatory devices)
• Inhaled bronchodilator (e.g. salbutamol)
• Inhaled hyperosmolar agent (e.g. hypertonic saline)
• Long-term oral macrolide (azithromycin)
• Lung transplantation or resection of the bronchiectatic areas
31
Different presentations of CF
1. Newborn - meconium ileus due to thick stool (surgical emergenc)
2. Early childhood - Pancreatic insufficiency due to blocked pancreatic duct, causing malnutrition, failure to thrive, steatorrhea, acute pancreatitis and chronic pancreatitis. T2DM secondary to pancreatic failure also occurs.
3. Late childhood - Muco-ciliary action is impaired allowing chronic colonisation of bacteria in lungs- ‘CF exacerbation’- and requires Abx. Commonly: Pseudomonas Aeruginosa, Staph Aureus, Aspergillus and Burkholderia Cepacia.
Chronic infection can cause dilatations in bronchial wall (bronchiectasis)
Irritation through blood vessel causing haemoptysis
Ultimately, respiratory failure
4.Other: Infertility in men, nasal polyps, ABPA, digital clubbing.
32
False positives for CF Ix
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Sweat test False positive:
malnutrition
adrenal insufficiency
glycogen storage diseases
nephrogenic diabetes insipidus
hypothyroidism, hypoparathyroidism
G6PD
ectodermal dysplasia
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too much cl- in sweat due to lack of CFTR so cl- can’t be reabsorbed), false negatives: oedema. Gives an obstructive picture on pulmonary lung function tests.
33
CF Mx
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Mx: Extra calories, replacement of pancreatic enzymes, chest physio to loosen mucous mechanically, inhaler,
N-acetylcysteine (cleaves bonds in mucous proteins),
Dornase alfa (cuts up nucleic acids in mucous to thin it out)
Lumacaftor and Ivacaftor (originally designed for different mutation but are also used to treat delta 508 mutation, luma increases number of CFTR proteins to the csf and Iva potentiates the CFTRs that are already at the surface)
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34
Fanconi Syndrome
Definition: It is a renal tubular disorder characterised by loss of the PCT’s ability to reabsorb metabolites back into the tubular fluid e.g. Go BUPA -> Glucose, Bicarb, Uric acid, Phosphate & Amino acid.
PC: Polyuria, polydipsia, dehydration, Rickets (low phosphate), failure to thrive, failure to reabsorb (alkaline) bicarb results in renal tubular acidosis etc. (hyperchloremic metabolic acidosis).
Other specific transport defects:
Pseudohypoparathyroidism -↑P reabsorp, obesity, depressed nasal bridge, short fingers (2nd, 4th & 5th)
Presenting with Renal calculi (Cystinuria, Hyperuricosuria, Hypercalcuria)
35
AKI definition
Sudden reduction in renal function classed as oliguria (< 0.5ml/kg per hour)
36
Nephrotic Definition
>3.5mg/24hr (proteinuria)
oedema
hypoalbuminaemia
37
AKI Mx
Use fluid balance charts to monitor intake
If there is circulatory overload, restrict fluids and challenge with diuretic.
Metabolic abnormality management:
HyperK-> SABA, Ca gluconate if ECG changes, Glucose and insulin, dietry restriction
HyperP -> Calcium carbonate, dietary restriction
Met acidosis -> Sodium bicarbonate
HUS -> Anti-hypertensives, 50% of kids will need dialysis
Dialysis criteria: FISH. Failure (of conservative mx or multisystem failure); Increased bp or pul oedema; Severe (acidosis, hypo/hypernatraemia), Hyperkalaemia
38
Bullous Impetigo
Hydrogen peroxide 1% cream for those who are systemically well
2nd line Abx Fusidic acid (if resistance suspected use mupirocin 2%)
If widespread offer oral fluclox
39
Eczema treatment steps
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1. Creams
Emollients all the day
Mild - Hydrocortisone
Moderate - Betamethasone Valerate (0.025%)
Severe - Betamethasone valerate (0.1%)
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2nd Line
Topical Tacrolimus
3. Bandages fo lichenified skin
4. Antihistamines 1 month trial (if severe itching, non-sedative e.g. fexofenadine)
5. Fluclox if infected
6. o Acliclovir if herpeticum suspected + immediate referral
40
pediculosis
Itching of scalp or neck. Suboccipital lymphadenopathy.
Identify live lice (on scalp) or empty eggs (whitish oval capsules on hair)
T: direct head to head contact
Cx: There may be secondary bacterial infection over nape (can lead to misdiagnosis of impetigo)
Mx: Wet combing with a fine-tooth comb to remove live lice every 3-4 days for 2 weeks is useful and safe
Dimeticone 4% lotion or aqueous solution of malathion 0.5% is rubbed into the hair and scalp and left on overnight and the hair is shampooed the following morning
Treatment should be repeated a week later
School exclusion is not advised
41
Scabies
Severe itching, worse at night, Hx of family members itching. Presence of burrows, papules and vesicles on soles and palms (babies) or in flexures of fingers, toes, axilla, wrist and belt line (older children/adults). Incubation period is 2-6 weeks. T: Skin to skin and fomites.
Cx: Itching leads to exorcised skin which can cause secondary bacterial infection or urticarial reaction- can mask + delay diagnosis.
Mx: topical insecticide (permethrin 5% cream)
The product should be applied to the whole body from the chin and ears downwards, esp finger flexures and under the nails
Apply to cool, dry skin and allowed to dry before the pt dresses
Permethrin should be washed off after 8-12 hours (malathion should be washed off after 24 hours)
A second application is required, 1 week after the first application
2nd line: malathion aqueous 0.5% (if permethrin is contraindicated/not tolerated)
Treat entire household
Follow Up:
If persists 2-4 weeks after the last treatment, advice to retreat
Treat post-scabietic itch with crotamiton 10% cream (or topical hydrocortisone)
Night-time sedative antihistamine (e.g. chlorphenamine) may help reduce itching and improve sleep
42
Viral warts
Rf: occupations which handle fish, meat, poultry
Mx: Spontaneously resolve in most children within 2 years.
Topical Salicylic acid can be used or cryotherapy if refractory.
Firm, rough nodule which is often keratinised. They disrupt natural skin lines.
43
Ring worm
Tinea capitis (scalp ringworm) causes scaling and patchy alopecia with broken hairs. Examination under filtered UV (Wood’s) light may show bright greenish/yellow fluorescence of the infected hairs with some fungal species.
Rapid diagnosis can be made by microscopic examination of skin scrapings for fungal hyphae. Definitive diagnosis by culture.
Mx:
Keep dry, topical antifungals if mild e.g. clotrimazole, with hydrocortisone 1% cream if needed. If moderate, systemic antifungals e.g. o terbinafine.
Tinea Capitis- Systemic antifungal therapy (e.g. griseofulvin or terbinafine)
Pets who are infected need treatment too.
44
Psoriasis Mx and Complications
Guttate: Reassure that it is usually a self-limiting condition that typically resolves within 3–4 months of onset, and reassure that it is not infectious. If concerned of appearance: emollient and if v severe a potent topical corticosteroid plus a topical vitamin D preparation (both applied once a day, but at different times of day). Urgent referral to dermatologist for phototherapy if more than 10% of body SA is covered. (NICE)
Guttate: Coal tar preparations are useful for plaque psoriasis in > 6 yrs. Dithranol preparations are very effective in resistant plaque psoriasis. Calcipotriol, a vitamin D analogue, is useful for plaque psoriasis in > 6 yrs
Cx: Occasionally, children with chronic psoriasis will develop psoriatic arthritis
45
Viral induced wheeze
1st line SABA
2nd line oral montelukast (LTRA) or inhaled corticosteroids or both
Advise parents to stop smoking
46
Hypotonia causes
An acutely ill child (e.g. septicaemic) may be hypotonic on examination. Hypotonia associated with encephalopathy in the newborn period is most likely caused by hypoxic ischaemic encephalopathy
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Central causes
Down's syndrome
Prader-Willi syndrome
hypothyroidism
cerebral palsy (hypotonia may precede the development of spasticity)
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Neurological and muscular problems
spinal muscular atrophy
spina bifida
Guillain-Barre syndrome
myasthenia gravis
muscular dystrophy
myotonic dystrophy
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47
How to differentiate between clinical shock and dehydration?
pale and cold extremities
prolonged capillary refill time
Tachycardia, tachypnoea, reduce skin turgor, urine output are present in both.
48
Differences between early compensated and late decompensated shock?
Late: Hypotensive, bradycardic, kussmaul breathing, blue extremities and absent (as opposed to reduced) urine output
NB any sign of shock (early/late) requires urgent fluid resus not just maintenance fluids.
49
Disorders that have a trinucelotide repeat expansion
Fragile X and Myotonic Dystrophy were the first disorders discovered to have this inheritance pattern, Huntington, Friedrich’s and cerebellar ataxia are other disorders
50
Myotonic Dystrophy
Type 1: Mutation in DMPK gene on chromosome 19. CTG trinucleotide repeat. This codes for Myotonic Dystrophy Protein kinase, which inhibits myosin phosphatase which is responsible for muscle contraction
Type 2: Mutation in CNBP gene on Chromosome 3. CCTG contains a tetranucleotide repeat. CNBP codes for cellular nucleic acid binding protein which controls the expression of genes in the heart and muscle.
In both types there is repeat expansion due to slipped mispairing by DNA Polymerase. If there is more than double (t1) or triple (t2) number of repeats than normal it can manifest into muscular dystrophy. If there are increased repeats, the pt is in a pre-mutation state of muscular dystrophy.
Myotonia = sustained muscle contraction i.e. difficulty relaxing e.g. difficulty letting go of a handshake.
Type 1: Can either present congenitally as floppy baby, with respiratory difficulty and muscle weakness, quite fatal. Or can present in adulthood with muscle weakness in the face (droopy eyelids and hollow cheeks), arms and legs.
Type 2: Presents with adult onset muscular weakness and is typically milder. There is proximal muscle weakness and weakness in shoulder/arms (meaning that there is a difficulty lifting objects, walking up and down the stairs).
Other: there is an association with cataracts, insulin resistance and cardiomyopathies. There is an association with GC tumours and so be wary of testicular swelling in kids.
Ix: muscle biopsy, EEMG, genetic testing.
Mx: Symptomatic
51
Neurofibromatosis
Type 1 and Type 2
Type 1=
COFFES (2 or more signs needed for diagnosis)
C = Cutaneous manifestations (Neurofibroma (nodules under the skin that are nerve tumours) and cafe au lait [6+ that are >5mm if pre pubescent and >15mm if post puberty])
O = Optic glioma
F= Freckles in axillary
F= First degree relative
E= Eye spots (lisch nodules)
S= Skull lesions (Boney lesions from sphenoid dysplasia)
Type 2 =
Less common
The main manifestation of the condition is the development of bilateral benign brain tumors in the nerve sheath of the cranial nerve VIII, which is the "auditory-vestibular nerve" that transmits sensory information from the inner ear to the brain (schwannoma). Besides, other benign brain and spinal tumors occur
52
Marfan's
Car = Autosomal Dominant
15 necklace = Chromosome 15 fibrillin 1 (FBN1) mutation
Skeletal features: Arachnodactyl, pectus excavatum, scoliosis,
Tall, long fingers, (same as homocysteinuria) but lens subluxed UPWARDS and OUTWARDS (different to homocysteinuria - lens is downwards and inwards)
Hat - Mitral PROLAPSE Sx (mid systolic click, late systolic murmur)
Tree - Aortic Dissection is most common cause of mortality
Mx: Beta blockers and losartan to slow the dilatation
53
Measles
RNA paramyxovirus
spread by droplets
infective from prodrome until 4 days after rash starts
incubation period = 10-14 days
prodrome: irritable, conjunctivitis, fever
Koplik spots (before rash): white spots ('grain of salt') on buccal mucosa
rash: starts behind ears then to whole body, discrete maculopapular rash becoming blotchy & confluent
Ix: IgM
Mx: Supportive, inform PH. If not immunised you can give MMR within 72 hours of exposure.
Complications
otitis media: the most common complication
pneumonia: the most common cause of death
encephalitis: typically occurs 1-2 weeks following the onset of the illness)
subacute sclerosing panencephalitis: very rare, may present 5-10 years following the illness
febrile convulsions
keratoconjunctivitis, corneal ulceration
diarrhoea
increased incidence of appendicitis
myocarditis
54
Scarlet fever cx
Scarlet fever is usually a mild illness but may be complicated by:
otitis media: the most common complication
rheumatic fever: typically occurs 20 days after infection
acute glomerulonephritis: typically occurs 10 days after infection
invasive complications (e.g. bacteraemia, meningitis, necrotizing fasciitis) are rare but may present acutely with life-threatening illness
55
Scarlet fever mx and ix
Diagnosis
a throat swab is normally taken but antibiotic treatment should be commenced immediately, rather than waiting for the results
Management
oral penicillin V for 10 days
patients who have a penicillin allergy should be given azithromycin
children can return to school 24 hours after commencing antibiotics
scarlet fever is a notifiable disease
56
Parvovirus
The illness may consist of a mild feverish illness which is hardly noticeable. However, in others there is a noticeable rash which appears after a few days. The rose-red rash makes the cheeks appear bright red, hence the name ‘slapped cheek syndrome’. The rash may spread to the rest of the body but unlike many other rashes, it only rarely involves the palms and soles.
The child begins to feel better as the rash appears and the rash usually peaks after a week and then fades. The rash is unusual in that for some months afterwards, a warm bath, sunlight, heat or fever will trigger a recurrence of the bright red cheeks and the rash itself. Most children recover and need no specific treatment. School exclusion is unnecessary as the child is not infectious once the rash emerges. In adults, the virus may cause acute arthritis.
57
Consent in children
The family law reform act of 1969 states that 'those over 16 can consent to treatment, but cannot refuse treatment under 18 unless there is one consenting parent, even if the other disagrees'.
at 16 years or older a young person can be treated as an adult and can be presumed to have capacity to decide
under the age of 16 years children may have capacity to decide, depending on their ability to understand what is involved
where a competent child refuses treatment, a person with parental responsibility or the court may authorise investigation or treatment which is in the child's best interests*
Gillick competence is for contraception only
58
Cow's milk allergy
Cow's milk protein intolerance/allergy (CMPI/CMPA) occurs in around 3-6% of all children and typically presents in the first 3 months of life in formula-fed infants, although rarely it is seen in exclusively breastfed infants.
Both immediate (IgE mediated) and delayed (non-IgE mediated) reactions are seen. The term CMPA is usually used for immediate reactions and CMPI for mild-moderate delayed reactions.
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Features
regurgitation and vomiting
diarrhoea
urticaria, atopic eczema
'colic' symptoms: irritability, crying
wheeze, chronic cough
rarely angioedema and anaphylaxis may occur
```
Diagnosis is often clinical (e.g. improvement with cow's milk protein elimination).
Ix: skin prick/patch testing, total IgE and specific IgE (RAST) for cow's milk protein
Management
If severe (e.g. failure to thrive) refer to a paediatrician.
If formula fed:
eHF - extensive hydrolysed formula
AAF - amino acid-based formula infants with severe CMPA or if no response to eHF
If breastfed: eliminate CM and continue breastfeeding, consider prescribing calcium supplements for breastfeeding mothers whose babies have, or are suspected to have, CMPI, to prevent deficiency
CMPI usually resolves in most children by age of 5
59
When do we refer bronchiolitis to hospital?
a respiratory rate of over 60 breaths/minute
difficulty with breastfeeding or inadequate oral fluid intake (50–75% of usual volume, taking account of risk factors [see recommendation 1.3.3] and using clinical judgement)
clinical dehydration.
60
RDS vs PPHTN (Mx, Cx etc) vs TTN vs Pulmonary Hypoplasia
RDS - surfactant defiecinecy
Aet: Prematurity
Ix: Ground glass appearance, indistinct heat borders
Mx: CPAP, pulmonary surfactant via ET if severe
Cx: Pneumothorax (red light will see space not lung)
PPHTN - failure of pulmonary v resistance to fall
Aet: Meconium aspiration, diaphragm hernia, RDS, SSRI use in 3rd term
Ix: Echo to rule out heart stuff
Mx: Mechanical ventilation and circulatory support. Sildenafil (Viagra) is a vasodilator which can be used. ECMO is indicated for severe, reversible cases.
TTN - due to incomplete clearance of fluid in lungs.
Rf: <39 weeks, born via c section without labour (fluid isn’t ‘squeezed out of the lungs’), male
Ix: OE lungs can be clear or crepitations, XR - shows fluid in interlobar fissure (looks like a slug), hyperinflation/hyperexpanded lungs, prominent vasculator. But no major changes.
Mx: resolves up to 2-3d after birth (self limiiting)
Pulmonary Hypoplasia
Completely different condition
Most commonly caused by Congenital Diaphragm herniation (not due to the hernia but alongside it), oligohydramnios (can compress the lung).
61
NEC
Initial symptoms can include feeding intolerance, abdominal distension and bloody stools, which can quickly progress to abdominal discolouration, perforation and peritonitis. Use Bellstaging criteria to stage (more severe sx R. LQ mass, ascites, absent bs, peritonitis)
Ix: Abdominal x-rays are useful when diagnosing necrotising enterocolitis, as they can show:
dilated bowel loops (often asymmetrical in distribution)
bowel wall oedema
pneumatosis intestinalis (intramural gas)
portal venous gas
pneumoperitoneum resulting from perforation
air both inside and outside of the bowel wall (Rigler sign)
air outlining the falciform ligament (football sign)
Mx: Stop oral feeding, broad-spec Abx, parentral nutrition, artificial ventilation. S if bowel perforation/necrosis- exploratory laparotomy, bowel resection and osteomy has a fatality of 50%.
Cx: Those who survive are at risk of short-bowel syndrome (malabsorption due to lack of SI presenting with diarrhoea), parenteral nutrition-associated cholestasis, prolonged neonatal hospitalization, significantly impaired growth, and poor long-term neurodevelopment. As well as failure to thrive
62
Pulmonary Hypoplasia
Diagnosed via fetal MRI, Commonest cause: CDH
Oligohydramnios can also cause it
Rare causes: Diaphragm agenesis, tetralogy of Fallot and osteogenesis imperfecta are all less common causes of pulmonary hypoplasia.
63
A 4-month-old baby girl is reviewed. Four weeks ago you started a trial of alginate therapy (Gaviscon) for frequent regurgitation associated with distress. Unfortunately, this has not resulted in any improvement in the symptoms and her mother now reports she appears to be refusing feeds. There are no other new symptoms such as diarrhoea, rash and she appears to be putting on weight steadily. She continues to be completely bottle fed after her mother stopped breastfeeding at 6 weeks of age. What is the most appropriate next step in management?
Key points: baby is still putting on weight = unlikely to be cow's milk intolerance (although this is still a differential, we would continue with GORD escalation and then look to other diagnoses)
GORD:
C: positioning
M: Food thickeners or alginate therapy
Only if there is continued unexplained feeding difficulties (for example, refusing feeds, gagging or choking)
distressed behaviour or faltering growth would you consider a trial of ranitidine
Prokinetic agents e.g. metoclopramide should only be used with specialist advice
64
Puberty first markers, pubic hair etc in boys and girls
Girls: Breast development is the first sign (8.5 - 12 years) after which there is pubic hair growth and rapid height acceleration almost immediately after. Menarche occurs 2.5 years after the start of puberty.
Boys: testicular enlargement >4ml is the first sign. Pubic hair growth 10-14 yo. Height growth spurt when testicular volume is 12-15ml. Voice breaks ~13yo.
65
What is short stature defined as?
2SD below mean
| Height velocity below 25th centile is abnormal and indicative of growth failure
66
Causes of short stature
1. Constitutional Delay
- FHx of parent of same gender
- Legs may be long compared to back
- Androgen and oestrogen can kick start
2. IUGR
3. Endocrine Hypothyroidism (usually due to AI) ,
GH deficiency
- Bone age markedly delayed
- isolated or panhypopituitarism
- isolated - Trauma, craniopharyngioma, Laron (GHR desensitised), hypothalamic tumour, cranial irradiation
- Steroid excess -> Cushing's
- IGF1 excess
4. Nutritional
5. Psychosocial neglect
6. Syndromic
- Turner's
- Noonan
- Down's
7. Chronic paeds conditions (inflammatory)
- SCA, Asthma, CF, Renal failure, etc.
Extreme Short stature:
Laron syndrome (absolute resistance)
Primordial dwarfism
Idiopathic short stature - defined as not resistant to GH
SHOX mutation (thought to be the causative factor in Turner’s)
67
Short stature investigations
1. Constitutional delay -XR will show some delay in growth
2. IUGR
3. Endocrine - XR will show marked delay in growth, TFTs. GH provocation test, IGF-1, 0900 cortisol and dexamthesasone suppression for cushing's, MRI for cranio
4. Nutritional
5. Psychosocial
6. Syndromic - Karyotype for turner's
7. Chronic condition - FBC for anaemia, Creatine and electrolytes for renal fialure, calcium, phosphate and ALP for bone disorders, endomysial antibodies for coealias, CRP for crohn's
Skeletal survey for skeletal dysplasia or scoliosis
68
Tall stature causes
1. Familial - most common
2. Obesity - puberty is often advanced
3. Secondary - Hyperthyroidism,
Excess sex steroids (PP), Excess adrenal androgen steroids (CAH),
Excess GH (gigantism)
4. Syndromic:
Long-legged tall (Marfan, Homocysteinuria, Kleinfelter)
Sotos syndrome - large head, LDs
5. Proportionate tall stature at birth - Maternal diabetes, hyper insulinism, beckwith syndrome
69
Precocious Puberty, signs, ix and mx
Before 8 in girls, before 9 in boys
It can be due to early activation of the hypothalamic pituitary axis (↑LH ↑FSH) or it can be independent (↓LH ↓FSH due to increased negative feedback). The latter is also known as pseudo/false and is due to excess sex steroids.
Treat PP via gonadotropin suppression (GnRH analogue will initially stimulate and then block it)
Pseudo PP requires treatment of underlying condition e.g. CAH, granulosa cell tumour, leydig cell tumour, exogenous sex steroids
70
Premature Thelarche
Premature Thelarche - isolated breast development due to a likely solitary cyst in the ovary which has cycles.
71
Premature adrenarche
premature hair, spots, body odour, rapid increase in weight. Might develop PCOS later in life. USS of pelvis to exclude PP. A more aggressive course of virilisation would suggest late onset, non-salt losing CAH or adrenal tumour.
72
Disorders of sexual differentiation
(APPEARS MALE) Excessive androgens producing virilisation in a female (commonest cause is CAH)
(APPEARS FEMALE) Inadequate androgen action producing under virilisation in a male, can be due to:
Not having the receptor for androgens (androgen insensitivity syndrome, can be partial or complete) (increased risk of testicular cancer - house episode)
Unable to produce the DHT (imperative for sexual differentiation) (due to 5alpha-reductase deficiency) (5areductase converts the less potent testosterone to DHT- dihydrotestosterone)
Abnormal synthesis of androgen from cholesterol
Gonadotropin insufficiency (PW Syndrome or congenital hypopituitarism, resulting in small penis and cryptorchidism)
Previously known as true hermaphroditism, but now as ovo-testicular disorder of sex developement, the fetus has XX and XY containg cells leading to both testicular and ovarian tissue.
73
CAH
CAH is due to autosomal recessive mutations of enzymes in the adrenal pathways. In 80% of patients there is a deficiency in 21-OHase. This results in shunting of the pathway and increased Androstenedione & DHT, lowered cortisol and aldosterone. This presents with different severities:
Salt losing crisis at birth (males) (severe hypotension, increased renin)
Virilisation of female infants (clitoral hypertrophy, variable fusion of the labia) (or in male there is enlarged scrotum but is rarely identified)
Acne and hirsutism in girls, men can also present with precocious pubert
74
CAH diagnosis and management
Diagnosis:
Raised 17-OH progesterone precursor
Raised ACTH (negative feedback from low coristol)
Salt losing crisis:
Low plasma sodium
High plasma potassium
Met acidosis
Hypoglycaemia
Management:
Corrective surgery for affected females within first year
Salt losing crisis - saline, dextrose and hydrocortisone IV
Long term:
Lifelong glucocorticoids to suppress ACTH
Mineralocorticoids if there is salt loss (fludrocortisone)
Measure bone growth
Additional hormone replacement to cover illness or surgery as they are unable to mount a cortisol response
75
SCFE Risk factors
```
Factors suggesting this include being
male,
aged 10-15,
obese
and an externally rotated leg. (SIRLOIN)
```
Plain X-rays should be requested for all patients with suspected SUFE. The diagnosis can be confirmed and graded if Klein's line (drawn along the superior edge of the femoral neck) intersects less of the femoral head
Mx internal fixation: typically a single cannulated screw placed in the center of the epiphysis
76
CP manifestations cx and mx
```
Possible manifestations include:
abnormal tone early infancy
delayed motor milestones
abnormal gait
feeding difficultie.
```
```
Children with cerebral palsy often have associated non-motor problems such as:
learning difficulties (60%)
epilepsy (30%)
squints (30%)
hearing impairment (20%)
```
as with any child with a chronic condition a multidisciplinary approach is needed
treatments for spasticity include oral diazepam, oral and intrathecal baclofen, botulinum toxin type A, orthopaedic surgery and selective dorsal rhizotomy
anticonvulsants, analgesia as required
77
ADHD Mx
Following presentation, a ten-week 'watch and wait' period should follow to observe whether symptoms change or resolve. If they persist then referral to secondary care is required.
Drug therapy is last resort for 5y+ and severe sx (mild/moderate sx - parents attending education and training programmes.)
fail to respond/ severe:
1st line Methylphenidate on a six-week trial basis.
(It is a CNS stimulant which primarily acts as a dopamine/norepinephrine reuptake inhibitor.)
Side-effects include abdominal pain, nausea and dyspepsia. In children, weight and height should be monitored every 6 months as it causes stunted growth in 10%
If there is inadequate response, switch to lisdexamfetamine;
Dexamfetamine should be started in those who have benefited from lisdexamfetamine, but who can't tolerate its side effects.
78
Constipation Mx
Prior to starting treatment, assess for faecal impaction. (symptoms of severe constipation, overflow soiling
faecal mass palpable in abdomen (digital rectal examination should only be carried out by a specialist))
If no feaceal impaction:
Dietary advice, hydration,
first-line: Movicol Paediatric Plain
add a stimulant laxative if no response
substitute a stimulant laxative if Movicol Paediatric Plain is not tolerated. Add another laxative such as lactulose or docusate if stools are hard
continue medication at maintenance dose for several weeks after regular bowel habit is established, then reduce dose gradually
79
UTI mx
<3 months - referred immediately to a paediatrician
> 3 months old with an upper UTI, consider for admission to hospital. If not admitted oral antibiotics such as cephalosporin or co-amoxiclav should be given for 7-10 days
> 3 months old with a lower UTI should be treated with oral antibiotics for 3 days according to local guidelines, usually trimethoprim, nitrofurantoin, cephalosporin or amoxicillin. Return if unwell after 24-48 hours
Antibiotic prophylaxis is not given after the first UTI but should be considered with recurrent UTIs
If under 6 months and atypical signs -> USS
80
Features of an atypical UTI
```
Features of atypical UTI:
Seriously ill
Poor urine flow
Abdominal or bladder mass
Raised creatinine
Septicaemia
Failure to respond to treatment with suitable antibiotics within 48 hours
Infection with non-E. coli organisms
```
81
MMR CI
- severe immunosuppression (live attenuated)
- allergy to neomycin
- children who have received another live vaccine by injection within 4 weeks
- pregnancy should be avoided for at least 1 month following vaccination
- immunoglobulin therapy within the past 3 months (there may be no immune response to the measles vaccine if antibodies are present)
Adverse effects
malaise, fever and rash may occur after the first dose of MMR. This typically occurs after 5-10 days and lasts around 2-3 days
82
Barter's Syndrome
Bartter's syndrome is an inherited cause (autosomal recessive) of severe hypokalaemia due to defective chloride absorption at the Na+ K+ 2Cl- cotransporter in the ascending loop of Henle. It should be noted that it is associated with normotension (unlike other endocrine causes of hypokalaemia such as Conn's, Cushing's and Liddle's syndrome which are associated with hypertension)
83
Pertussis Ix
per nasal swab culture for Bordetella pertussis - may take several days or weeks to come back
PCR and serology are now increasingly used as their availability becomes more widespread
84
Precocious puberty in boys (how to differentiate between the ddxs)
Bilateral enlargement of testes = central precocious puberty e.g. intracranial lesion releases stimulant e.g. astrocytoma
(NB if history of sexual agression = testoxicosis; idiopathic also fits into bilateral enlargement box)
Unilateral - Gonadal tumour
Small testes - ADRENAL cause (tumour or adrenal hyperplasia)
85
Hand Foot and Mouth disease
Caused by Coxsackie A16 and Enterovirus 71
Mouth features - oral ulcers, blisters, erythematous papules on tongue and hard palate
Erythematous maculopapular lesions on sides of fingers, feet and can be on bum as well
Mx- SYMPTOMATIC only. Keep off school only if unwell., return when feel better
86
Trinucelotide disroders
```
Fragile X (CCG)
Huntington's (CAG)
Myotonic dystrohpy (CTG)
Friedrich's ataxia (GAA)
Many more...
```
87
Lucy is 3 years old and presents with stridor and a spreading rash after returning from a playdate at a friend’s house.
She is given IM adrenaline in the ambulance and presents to A&E 10 minutes later.
She has loud stridor, swollen lips and respiratory distress. Her SATS are 92% on air and she is wheezy.
What is the most appropriate initial management to relieve her symptoms?
REPEAT ADRENALINE UNTIL ADEQUATE RESPONSE.
88
Who are susceptible to candida infections?
* VLBW infants are more likely to get systemic candida infections (they may require fluconazole and nystatin prophylaxis)
* Immunocompromised patients are also more likely to get invasive candidiasis
* Patients on ITU with lots of lines in (e.g. central lines) are also at risk because Candida is very good at forming biofilms and colonising prosthetic material
* Invasive candidiasis is also more common in people receiving TPN
* Immunocompetent people can get candidiasis receiving antibiotic therapy because the antibiotics will kill the commensals
89
Bells palsy
Bell palsy is an acute, unilateral facial nerve palsy
that begins about 2 weeks after a viral infection. The exact pathophysiology
is unknown, but it is thought to be immune or allergic. On the affected
side, the upper and lower face are typically paretic, the mouth droops, and
the patient cannot close the eye. Treatment consists of maintaining mois-
ture to the affected eye (especially at night) to prevent keratitis. Complete,
spontaneous resolution occurs in about 85% of cases, 10% of cases have
mild residual disease, and about 5% of cases do not resolve.
90
What is Ipecac?
The induction of emesis with syrup of ipecac is a very effective method of removing swallowed poisons. It has
been used safely in children as young as 6 months of age. Ipecac should
not be given to a patient who has ingested a corrosive poison, such as
strong acid or alkali, because of the possibility of gastric perforation and
further necrosis of the esophagus. When vomiting imposes a risk of aspi-
ration, as in the case of an obtunded or comatose patient or in the case of
General Pediatrics Answers 37
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impending seizures precipitated by the ingested drug, syrup of ipecac is
contraindicated.
91
The adolescent shown presents with a 14-day history of multiple oval
lesions over her back. The rash began with a single lesion over the lower
abdomen (A); the other lesions developed over the next days (B). These
lesions are slightly pruritic. The likely diagnosis is
Pityriasis rosea is a benign condition that usually presents with a herald patch, a single round or oval
lesion appearing anywhere on the body. Usually about 5 to 10 days after
the appearance of the herald patch, a more diffuse rash involving the upper
extremities and trunk appears. These lesions are oval or round, slightly
raised, and pink to brown in color. The lesion is covered in a fine scale with
some central clearing possible. The rash can appear in the Christmas tree
pattern on the back, identified by the aligning of the long axis of the lesions
with the cutaneous cleavage lines. The rash lasts 2 to 12 weeks and can be
pruritic. This rash is commonly mistaken for tinea corporis, and the con-
sideration of secondary syphilis is important. Treatment is usually unnec-
essary but can consist of topical emollients and oral antihistamines as
needed.
92
Scabies treatment
5% permethrin cream
| (Elimite)—is available and is more often recommended.
93
Brushfield spots
Brushfield spots are a characteristic feature of the chromosomal disorder Down syndrome or trisomy 21.
94
Which metabolic abnormality increases the risk of kernickerterus?
Metabolic acidosis also reduces binding of bilirubin,
95
Describe the signs of intra uterine asphyxia and the potential complications (alongisde how it would present)
The low Apgar scores, meconium staining, and ensuing respiratory distress suggest that asphyxia has occurred.
During a period of asphyxia, the resulting hypoxemia, acidosis, and poor perfusion can damage a neonate’s brain, heart, kidney, liver, and lungs.
The resulting clinical abnormalities include cerebral edema, irritability, seizures, cardiomegaly, heart failure, renal failure, poor liver function, disseminated intravascular coagulopathy, and RDS.
There can be excessively high pulmonary arterial pressure at the same time systemic blood pressure begins to fall, resulting in a persistent right-to-left shunt across a patent ductus arteriosus or foramen ovale.
96
A full-term infant is born after a normal pregnancy; delivery, however,
is complicated by marginal placental separation. At 12 h of age, the child,
although appearing to be in good health, passes a bloody meconium stool.
For determining the cause of the bleeding, which of the following diagnos-
tic procedures should be performed first?
Hematemesis and melena are not uncommon in
the neonatal period, especially if gross placental bleeding has occurred at
the time of delivery. The diagnostic procedure that should be done first is
the Apt test, which differentiates fetal from adult hemoglobin in a bloody
specimen. If the blood in an affected infant’s gastric contents or stool is
maternal in origin, further workup of the infant is obviated.
97
Lyme disease management
DOXYCYCLINE* - uncomplicated over 12+
Amoxicillin if younger
IV Ceftriaxone if carditis/neuro
98
Epiglottits vs bacterial Croup
Epi - ACUTE (hours) - bolt upright, toxic, drools, risk factors such as unvaccinated or travel hx. (Most common Hib is the organism and so is mostly erradicated nowadays), absent cough, soft stridor. Mx: Intubate, Cef and fluid resus.
Bacterial croup - (days) - looks toxic, poor response to neb adrenaline, croupy barking cough. Mx: Intubate, IV Cef and fluclox.
99
```
Annette is a 15-year-old girl who complains of worsening daily occipital headaches. They occur mainly in the mornings and sometimes wake her from sleep. Her mother says she is doing less well at school than previously and has become a difficult and grumpy teenager. She sometimes vomits in the mornings. She has no other medical problems though she is on the oral contraceptive pill.
A- Idiopathic intracranial HTN
B - Migraine
C - Medication side effect
D- Tension headache
E - Raised ICP due to SOL
```
The key in this history is the fact that the headache is in the mornings (ICP) that are progressive (ICP). They are not unilateral (not migraine)
100
Most useful diagnosis for the below case:
Gerald is a 10-year-old boy. He is seen in the special school clinic with his mother, who is just recovering from cataract surgery. He has moderate learning difficulties and is teased because of his marked facial weakness. He is unable to walk long distances. His mother says that he struggles to release things once he grabs them. He has no other medical problems. He has not had any investigations performed.
DNA testing for AD Myotonic Dystrophy
DNA testing for trinucleotide repeat expansion of myotonic dystrophy. The clinical history suggests myotonic dystrophy because of his learning difficulties, myotonia, facial weakness and limb weakness. It was dominantly inherited from his mother, who has cataracts as a result.
101
Olive is a 5-year-old girl who had a myelomeningocele repaired shortly after birth. She uses a wheelchair for mobility. She has a 4-day history of fever, lethargy, vomiting and abdominal pain. She normally opens her bowels twice a week and does intermittent urinary catheterization three times a day with the help of her mother but despite this she is dribbling urine.
Olive had a myelomeningocele that has caused a neurogenic bladder (she has to use catheterization to maintain continence) and neurogenic bowel dysfunction (she is usually constipated). A neurogenic bladder predisposes to developing a urinary tract infection, due to the stagnant urine lying in the bladder. Her symptoms of fever, abdominal pain, vomiting, and urinary incontinence are most likely to be due to a urinary tract infection.
102
How does IVH present?
IVH is a complication that is more common in premature babies
It presents with hydrocephalus, and signs of ICP e.g. vomiting "He has always vomited but this has been getting worse and his mother has noticed his eye movements are not normal."
This results in impairment of drainage and reabsorption of CSF leading to post-haemorrhagic hydrocephalus. The figure shows his large head and sun-setting eyes, which, together with the vomiting, are all clinical features of hydrocephalus. He will also have an increasing head circumference, which will cross centile lines.
103
Complex migraines
```
Neurological phenomena (monoplegia and hemianopia)
It necessitates neuroimaging to exclude a vascular abnormality or structural problem.
Over the next hour, she lost her temporal vision in her right eye and found she only had minimal movement in her right arm. The left side of her mouth was drooping. Her parents were called, who rushed her to hospital. She is now feeling much better, has normal vision and can move her arm, although she has some residual weakness of her mouth. She has no significant medical history except some episodes of abdominal pain as a younger child.
```
104
Management?
Aparna is a 2-year-old girl of Indian ethnicity who lives in the UK. She presents to her general practitioner as she has been unsteady on her feet for a day, having had diarrhoea during the previous week. On examination she is afebrile, has reduced muscle power and tone and no tendon reflexes can be elicited in her lower limbs. She is referred urgently to the paediatric hospital and 6 hours later she is unable to stand and the tendon reflexes in her upper limbs are now absent. She has no other medical problems and has been fully immunized.
IVIG and Plasma exchange
| 85%make a full recovery
105
Brudziski vs Kernig
Kernig’s sign is positive if there is pain on extending the knee. This suggests meningism. To undertake the test, the hip and knee are flexed to 90°. The knee is the extended to 180°. Brudzinski’s sign also indicates meningism; the patient should be lying in a supine position and the sign is positive if there is involuntary lifting of the legs when their head is lifted off the couch
106
Amir is a 5-year-old boy who was born and lives in the UK. His parents are from Pakistan. He presents to the Emergency Department with a high temperature and complains of pain in his right upper arm. This has been present for 2 days and seems to be getting worse. The pain is described as being sharp and gets worse when he moves his arm. He had an abscess on his right finger 2 weeks ago for which he was prescribed oral antibiotics. On examination he has a temperature of 39° C. There is an area of redness and swelling over the right upper arm which is painful when touched or moved. The white cell count and C-reactive protein level are raised.
Diagnosis and organism
Osteomyelitis
Commonly Staph, but can be strep (or salmonella in SCD)
(WRITE A CARD ON THIS)
107
JIAs (+ DDX)
Systemic JIA - oligo or poly arthritis, non-itchy salmon-pink macular rash, often have mild anaemia, leucocytosis (neutrophils) and can have thrombocytosis. ESR very raised!!!
High spiking fevers daily for at least 2 weeks.
DDx - ALL, SLE, HSP, Post strep arthritis, EBV
108
HSP
Henoch–Schönlein purpura is the most common vasculitis of childhood,
- purpuric rash over the lower legs and buttocks, but which can also involve the extensor surface of the elbows.
- arthritis of the ankles or knees
- abdominal pain, haematuria and proteinuria.
Ix: Urinalysis to check for proteinuria or red casts, creatinine to check for renal impairment/failure
Mx: Depends on symptoms. If just joint px -> analgesic.
± severe oedea, severe abdo pain or declining GFR -> corticosteroids.
If the declining GFR has a nephritic picture -> corticosteroids + immunosuppressants e.g. azathioprine
109
Osteogenesis Imperfecta
AD condition
AKA brittle bone disease
It presents with fractures in early childhood and the bones look osteoporotic on X-ray.
The children often have blue sclera but this can be difficult to identify with confidence.
Pts can have hearing loss, breathing problems and problems with the teeth.
Complications may include cervical artery dissection and aortic dissection
110
Mx of the knee problems
OSD - Most resolve with reduced activity and physiotherapy
SCFE- Mx: S- pin internal fixation ASAP due to avascular necrosis
Perthes
C- Casting to keep the femoral head in the socket,
M- NSAIDS,
S - Containment, keeping the femoral head in the socket by reorienting the affected bones (osteotomy) and stabilizing the realignment with screws and plates). Surgery when >50% femoral head necrosis, >8 year diagnosis
Osteomyelitis - IV Abx, If atypical or severe/prolongs, surgical aspiration or decompression of subperiosteal space may be performed.
Septic - IV Abx, joint lavage or surgical drainage.
111
Kocher criteria
```
Tool used to distinuigh septic arthritis from tansient arthritis
KOCHER criteria
WBC>12
non-weight bearning
fever>38.5
ESR>40
If 4 criteria are met = 99% chance
If 3 criteria are met = 93% chance its SA
```
112
Complex Regional Pain syndrome
Flora is likely to have a localized complex regional pain syndrome, which often presents in a single foot or ankle after minor trauma. In addition to severe pain, there may be hyperaesthesia (increased sensitivity to stimuli), allodynia (pain from a stimulus that does not normally produce pain) and the affected part (often a foot or hand) may be cool to touch with swelling and mottling.
113
Chondromalacia patellae
There is softening of the articular cartilage of the patella. It most often affects adolescent females, causing pain when the patella is tightly apposed to the femoral condyles, as in standing up from sitting or on walking up stairs. It is often associated with hypermobility and flat feet, suggesting a biomechanical component to the aetiology.
114
Craig is 5 years old and is complaining that his back hurts. This started about 4 weeks ago and his mother tried to ignore it as there was nothing to see and ibuprofen seemed to help. However, he has now started waking up at night crying out that his back is sore. He has not had a fever. His father suffers from back pain and is off work with it at the moment. On examination he is reluctant to move his back for you but there is no obvious tenderness over his spine and there is mild scoliosis. His neurological examination is normal.
Tumour – osteoid osteoma
Craig may have a benign tumour, an osteoid osteoma. It presents with back pain, which is worse at night. Back pain in young children must be taken seriously, as it is uncommon. Red flag features include a young age, waking at night, fever, weight loss and focal neurological signs. Osteomyelitis of the back can occur and would present with pain but is usually associated with a fever, systemic upset and tenderness over the area.
115
Spondylyolysis
stress fracture of pars interarticularis of the vertebra. Increased risk with certain sporting activities e.g. bowling in cricket or gymnastic. Spondylolisthesis: If the fracture is bilateral, the vertical body can slip forward and this can compress the nerve root. There is pain on spine extension.
116
Zahra is a 4-year-old Asian girl. Her mother is concerned about her leg shape. On examination you notice that on standing, the knees are very widely spaced with the feet held together. On completing the musculoskeletal examination, you notice that she has swollen wrist joints. There is no other medical history of note and she is not on any medications.
This girl has bow legs (genu varum), which would be a common variant of NORMAL UNTIL 3 years of age. The finding of swollen wrists leads to the diagnosis of rickets. This girl should have blood tests to confirm the diagnosis and be started on vitamin D supplementation along with dietary advice and advice regarding increasing sunlight exposure.
117
Rachel, a 2-year-old girl, is seen for a developmental check by the health visitor. She is walking on her own but the health visitor notes that she has flat feet while she is walking. She tries to get Rachel to stand on her tiptoes but she cannot. When she passively extends her big toe an arch is demonstrated.
This is a normal variant of childhood. Toddlers learning to walk usually have flat feet due to flatness of the medial longitudinal arch and the presence of a fat pad, which disappears as the child gets older. An arch can usually be demonstrated on standing on tiptoe, or by passively extending the big toe. Marked flat feet are common in hypermobility. A fixed flat foot, often painful, may indicate a congenital tarsal coalition and requires an orthopaedic opinion. Rachel is unable to stand on her tiptoes, not because of a pathological condition but because children are unable to do so at this age.
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Alliah is a 2½-year-old girl. She is seen in the paediatric outpatient department because her mother is worried about her walking, as she usually walks on tiptoes. She was born by normal vaginal delivery at 37 weeks. She started to walk at 15 months. She never crawled but did bottom shuffle. On examination of her gait she mostly walks and runs on tiptoes, and her mother confirms she has done this ever since she started walking. However, she can walk on her heels if asked to do so. General examination of her legs demonstrates normal tone and reflexes.
Normal variant of childhood
Toe walking is common in young children and may become persistent, usually from habit. The child can walk normally on request.
Children with mild cerebral palsy can present with toe walking but an increase in tone would be found on examination.
In older boys, Duchenne muscular dystrophy should be excluded.
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What is the enzyme deficiency in galactosaemia?
galactosaemia, which is a rare disorder resulting from deficiency of the enzyme galactose-1-phosphate uridyl transferase, which is essential for galactose metabolism. When lactose-containing milk feeds such as breast milk or infant formula are introduced, affected infants feed poorly, vomit, develop jaundice, hepatomegaly and hepatic failure. Management is with a lactose-free and galactose-free diet for life.
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Samina is 12-years-old and has hepatomegaly. She is short for her age, suffers from hypoglycaemia and needs an overnight feed via a nasogastric tube.
What is the most likely diagnosis?
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She has clinical features of the hepatic form of glycogen storage disorder, where enzyme defects prevent the mobilization of glucose from glycogen and gluconeogenesis, resulting in abnormal storage of glycogen in liver.
Aka von Gierke Disease
Presents with hypoglycaemia because glucose can't leave the hepatocytes
• Hepatomegaly
• Nephromegaly
• Hypoglycaemia
• Lactic acidosis
• Neutropaenia
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Terry was born at term and was well at birth. On day 2 of life, he became severely unwell with poor feeding, vomiting, acidosis and encephalopathy. Sepsis and hypoglycaemia were excluded, and an inborn error of metabolism is thought to be the cause as the blood ammonia level is extremely high. Which of the following is the most likely cause?
Urea Cycle Defect
AR
Mx: Remove ammonia (using sodium benzoate or sodium phenylacetate or dialysis)
Reduce ammonia production (low protein diet)
Features:
o Vomiting without diarrhoea
o Respiratory alkalosis
o Hyperammonaemia
o Neurological encephalopathy
DDx: Hyperammnoia is also a feature in the organic acud urias but they present with a metabolic acidosis with an a high anion gap (not lactate). Unusual odour.
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How do we diagnosed MCAD?
Fatty acid oxidation disorder
If MCAD is missing, you are NOT going to produce acetyl-CoA from fatty acids
Acetyl-CoA is necessary in the TCA cycle to produce ketones, which spares glucose
You use fat when you're fasting or between meals, in order to spare your glucose stores
MCAD deficiency is a classic cause of cot death - if a baby can't break down fats, then when they are not feeding they will get massively hypoglycaemic and die
MCAD deficiency is screened by looking measuring C6-C10 Acylcarnitines using tandem MS
Treatment: make sure that the child NEVER becomes hypoglycaemic, and hence never becomes reliant on fats as a source of energy.
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What is the most common childhood leukaemia?
ALL
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Amy is a 2-year-old girl who presents to the outpatient department with a history of developmental regression. She was able to walk but has ‘gone off her legs’ in the last few weeks. Her parents are very worried about her. On further questioning she had been well with no preceding coryzal illness. On examination, she is very unsteady on her feet and her power is reduced in her lower limbs. She has no obvious visual problems and seems able to follow the picture book her mother has brought to clinic.
Truncal ataxia and incoordination are features of medulloblastoma
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Mark, a 3-year-old boy, is currently receiving chemotherapy. His sister has developed the rash shown (chickenpox). Mark is well and does not have a fever.
Mark’s parents are worried and phone the oncology ward for advice.
What information should they be given?
His sister has varicella zoster (chicken pox) infection, and this can be life-threatening in immunocompromised patients. He needs treatment with varicella zoster immunoglobulin unless he is immune. The incubation period for varicella is 14–21 days, so one cannot be reassured by the fact that he is currently well.
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Leukocoria
White papillary reflex (also known as leukocorias) requires urgent ophthalmological assessment as it can be caused by:
* retinoblastoma
* corneal opacity
* congenital cataract (usually presents shortly after birth)
* vitreous opacity
* retinal disease, e.g. retinal detachment
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Brittney, aged 5 years, goes to her optician. She has needed glasses for 4 months but her mother thinks her prescription needs changing as she has been getting progressively worsening headaches. When the optician examines her eyes she finds that when asked to look right, both pupils move right but when asked to look left her left pupil only can not abduct. Both her eyes have a red reflex.
What is the most likely diagnosis?
bilateral VI nerve palsy – she is unable to look to her left or right because of lateral abducens (VI) nerve palsy. She is likely to have a posterior fossa tumour. It is a false localizing sign from raised intracranial pressure.
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Flags for a brain tumour
persistent/recurrent headaches
• persistent/recurrent vomiting
• abnormal balance/walking/coordination
• abnormal eye movements, blurred or double vision
• behaviour change
• seizures
• abnormal head position, e.g. head tilt, wry neck, stiff neck.
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Enuresis milestones
• Most children are dry by day and night by the age of 5 years
o Children are dry by day only by the age of 4 years
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Periorbital cellulitis
Erythematous, tender swelling around eye, unilateral
In young un-immunised children can be due to Hib
Ix: CT scan to assess posterior spread. LP to exclude meningitis.
Mx: IV abx
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Georgio is a 6-year-old, normally healthy boy, who attends the Paediatric Assessment Unit. Three weeks ago he had a diarrhoeal illness lasting 3 days, which was not associated with vomiting and resolved without any treatment. Now he is having episodes of cramping abdominal pains. He has not opened his bowels for a week. He reports that his stools were normal prior to the diarrhoeal illness. He is his normal self between the episodes of abdominal pain. On examination he is a well child, not currently in pain, with an indentable mass in his left iliac fossa. His weight and height are plotted and are found to lie on the 25th centile.
What is the most likely diagnosis?
Constipation with impacted stool
Start with Polyethene glycol and electrolytes
Disimpaction Therapy
o Step 1: Movicol Paediatric Plain (polyethylene glycol + electrolyte) escalating dose for 2 weeks
o Step 2: Add a stimulant laxative (e.g. senna or sodium picosulphate)
• If Movicol is not tolerated: a stimulant laxative (e.g. senna) can be used with lactulose or docusate (stool softeners)
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When do night terrors occur?
Night terrors classically occur about 1–2 hours after falling asleep during the non-REM stage of sleep. The child is often confused, distressed and can appear terrified despite reassurances offered from parents. Unlike nightmares, there is no recollection of events the next day.
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Juvenile Dermatomyositis
A rare diagnosis but one which can present with tiredness and muscle aches. The characteristic findings are an elevated creatinine kinase and a heliotrope rash across the eyelids
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For the last 3 months, Fatima, aged 13 years and born in the UK to parents of Pakistani origin, has complained of difficulty in doing school work, increased tiredness on the slightest exercise, pain in her joints and headaches with tenderness over the top of her head. This began shortly after a febrile illness, associated with a cough and sore throat, which lasted 3 days. She has not attended school for the last 8 weeks. Examination is normal. You plot her height and weight, which are on the 30th and 9th centile, respectively. There are no other medical problems and she is not on any medications.
By definition, this is chronic fatigue syndrome. There are persisting high levels of subjective fatigue. Myalgia, migratory arthralgia and headaches are almost universal
Usually the most successful approach in chronic fatigue syndrome. It consists of a gradual increase in exercise, school work and activities of daily living. Successful therapies include graded exercise tolerance programmes, pacing and cognitive behavioural therapy.
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Olivia is a 2-year-old girl who comes to the general paediatric clinic with her exasperated mother. Olivia throws tantrums whenever her mother asks her to do something that Olivia is reluctant to do. When you ask for an example, Olivia’s mother describes breakfast time that morning, when Olivia screamed and threw her toast across the room when she was asked to stop flicking her yoghurt at her baby brother. Olivia was born at term and has no medical history. What is the best management?
A. Admit to paediatric ward
B. Cognitive behavioural therapy
C. Drug therapy
D. Explanation, advice and reassurance
E. Family therapy
F. Individual or group dynamic psychotherapy
G. Parenting group
H. Referral to a child psychiatrist
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D. Explanation, advice, and reassurance
| This is a normal developmental stage, and needs advice about behaviour management.
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Tia is a 4-year-old Caucasian girl. She is referred to the paediatric ward by her general practitioner as her mother noted that she had a yellow tinge to her eyes since developing an upper respiratory tract infection. She is well in herself and has no history of weight loss. There is no family history of any blood disorders. On examination she was pale and her spleen was enlarged 3 cm below the costal margin.
You perform a full blood count, which reveals:
* Hb (haemoglobin): 60 g/L
* WBC (white blood cell count): 8 × 109/L
* platelet count: 255 × 109/L
* blood film: small red cells
* MCV (mean cell volume): 60 fL (normal: 75–87 fL)
What is the most likely diagnosis?
In hereditary spherocytosis the anaemia is usually mild (Hb 90–110 g/L), but the haemoglobin level may transiently fall during infections. Mild to moderate splenomegaly is common.
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Hba2 range
Normal range is 1.5-3.1%
| >3.5% you would consider beta thalassemia trait
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Neonate presenting with hepatomegaly and severely unwell, what are your priorities?
- Hypoglycaemia?
- Prevent haemorrhage -> FFP/Vit K
- broad spec abx
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Javid is a 5-month-old Asian baby born at term in rural Pakistan. He presents with jaundice. His mother’s blood group is AB rhesus positive. His stool and urine are a normal colour. He is breastfed, although he has not been feeding well. His mother is concerned that this could be due to his constipation. When you examine the infant (Fig. 21.1) you note that he has dry skin and an umbilical hernia and a large tongue.
Hypothyroidism
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A 5-week-old southern Asian male infant born in the UK presents to the Paediatric Assessment Unit with vomiting. He has not gained weight since birth. On examination you find an infant who is jaundiced, lethargic and hypotonic. Cataracts are present.
GALACTOSSAEMIA IS NOT SCREENED FOR IN THE UK
In this very rare disorder infants develop poor feeding, vomiting, jaundice and hepatomegaly when fed milk. Liver failure, cataracts and developmental delay are inevitable if untreated. A rapidly fatal course with shock and disseminated intravascular coagulation, often due to Gram-negative sepsis, may occur. For this reason, galactosaemia is being screened for in some countries (but not the UK).
A bacterial infection (such as a urinary tract infection) would need to be excluded.
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Lee is a 12-year-old Chinese boy who moved with his parents from China 2 years ago. He presents with episodes of vomiting which is blood-stained. On examination he is jaundiced, malnourished and has splenomegaly.
Hepatitis B virus has a high prevalence and carrier rate in the Far East and sub-Saharan Africa. This child probably acquired the infection vertically from his mother or horizontally from another family member. His vomiting blood most likely represents oesophageal varices from portal hypertension. The main clue to hepatitis B is his country of origin.
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How should you give influenza vaccine to kid who is allergic to eggs?
Hospital IM injection
143
Why do large VSDs present with 'sudden' heart failure at 6 weeks?
The pulmonary vascular resistance falls after birth and now flow from left to right across the septal defect is much greater
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John, who is 6 years old, presents to the Emergency Department feeling sick and dizzy. He was brought to hospital by a paramedic crew who were called after he became unwell at school. His heart rate was noted to be very quick, at 260 beats/min and supraventricular tachycardia is diagnosed. He says he can feel his heart beating quickly and looks pale. He is crying, saying he wants his mother.
Which of the following should be undertaken by the attending team
Vagal Stimulation maneouvre (thumb in mouth and blow) ±cold ice pack to the head.
If that doesn't work adenosine -.> dc cardiovert
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Azam, a 5-year-old boy, presents with frequent chest infections. On examination of the chest there are bilateral crackles at the bases. His heart sounds can be heard throughout the praecordium but are louder on the right. His apex beat is palpable on the right.
D. Dextrocardia with situs inversus
The right-sided apex indicates dextrocardia. This may be associated with primary ciliary dyskinesia (Kartagener syndrome), which is likely to be responsible for his frequent respiratory infections. Cilia are required to decide the polarity of an embryo. Without adequate ciliary function, the lateralization of organs occurs randomly and therefore approximately half of children will have dextrocardia with situs inversus (stomach on the right and liver on the left). Isolated dextrocardia with situs solitus (with the stomach and liver in their normal positions) is not a ciliary problem
