A short sweet list.
Acutely, Hand-Foot-Mouth (Coxsackie, or another enterovirus) is the most common. Measles can affect your palms/soles but would be everywhere…
Gianotti-Crosti syndrome typically affects hands.
Kawasaki and Toxic shock prior to desquamation.
Chronically, Scabies, pompholyx (type of eczema), Pustular psoriasis, Secondary syphilis, Janeway lesions (endocarditis).
Typically closes around 12 months of age. Can be bulging (meningitis?), sunken (dehydration), pulsatile (normal!), large (hypothyroidism), small (craniosynostosis). But actually not very predictive of any of these things in isolation.
For example – in Brazilian study of babies with craniosynostosis compared with babies with fontanelle that closed by 6 months, only 36% sensitive for craniosynostosis, and positive predictive value 59%. [https://doi.org/10.1016/j.jped.2021.10.004]
Do not diagnose asthma without objective test.
Feno (if available) >35ppb diagnostic, age 5+. If not diagnostic, measure BDR with spirometry. Diagnose asthma if the FEV1 increase is 12% or more from baseline (or if the FEV1 increase is 10% or more of the predicted normal FEV1).
If spirometer not available, measure PEF twice daily for 2 weeks. Diagnose asthma if PEF variability (expressed as amplitude percentage mean) is 20% or more.
Failing that, either perform skin prick testing to house dust mite or measure total IgE level plus blood eosinophil count. Raised total IgE plus Eos >0.5 considered diagnostic! [Because highlights underlying atopy cf viral wheeze?]
Under 5, prescribe steroids [not just salbutamol!] for 8-12 weeks and review. [No dosage guide for under 5s!?] Then do objective test when they reach 5! If no response, check technique, consider environmental triggers (mould, smoke etc), consider alternative diagnosis, refer.
If making asthma diagnosis, record basis for this in notes.
Suggests stopping after initial trial or else within 12 months, if symptoms settled.
If helps but then symptoms recur, can try moderate ICS dose. After that, 8-12 week trial LTRA.
Uncontrolled = exacerbation requiring oral steroids, or use of SABA 3 days a week or more, or night waking once per week or more.
New section on diagnosis at time of acute presentation!
Refer to a specialist respiratory paediatrician any preschool child with an admission to hospital, or 2 or more emergency department admissions in a 12-month period.
Age 5-11, after low dose ICS, assess ability to manage MART (maintenance and reliever therapy) regimen (none licensed under 12, so would be off label). Start low, go to moderate.
Otherwise would be trial of LRTA, then add LABA, then increase ICS to moderate.
12+, start Anti-inflammatory reliever (AIR) therapy with prn combination ICS/LABA inhaler (only budesonide/formoterol licensed for this). This strategy had lowest rate of severe exacerbations (plus cheaper). If highly symptomatic at presentation could start MART +/- oral steroids with view to stepping down.
If MART required and still symptomatic on moderate dose, check FENO and eosinophil count – refer if either high. Otherwise trial of either a LTRA or a long-acting muscarinic receptor antagonist (LAMA, eg tiotropium).
Beware neuropsychiatric side effects of LTRA/montelukast. Review annually.
Duoresp Spiromax 160/4.5 (powder, 12+) – For MART, 2 inhalations daily in 1-2 divided doses (up to 2 BD); 1 inhalation PRN for relief up to 8 in a day (up to 12 for a limited time but medical assessment recommended).
Symbicort 200/6 (powder, 12+) MART as above. Else AIR – 1 puff PRN, up to 6-8 (up to 12 for limited time).
Symbicort 100/3 MDI 12+ MART – 4 puffs daily in 1-2 divided doses, up to 4 BD. 2 puffs PRN for relief up to 12-16 in a day (max 24)
Wockair 160/4.5 (powder) MART 2 inhalations daily in 1-2 divded doses, up to 2 BD. 1 inhalation PRN up to 6-8 (max 12). Else AIR – as above
House dust mite reduction measures not routinely recommended. Evidence on removal of pets from homes “paradoxical” – no benefit or tolerance if continued presence. If detectable cat antigens without cat, might be benefit to high efficiency vacuum cleaning or additional measures.
Air pollution linked to worse symptoms.
High sodium and low magnesium intake linked to asthma symptoms but poor/no evidence that intervention makes a difference. High intake of fresh fruit and vegetables is associated with less asthma and better pulmonary function but no interventional studies.
Weight loss interventions may help asthma symptoms in overweight/obese, and should be considered, but may require >10% loss for benefit.
Breathing exercises eg Papworth/Buteyko methods can lead to modest improvements in asthma symptoms and quality of life, and reduce bronchodilator requirement, in adults with asthma. Less evidence for effect on lung function or airway inflammation. Insufficient evidence in children.
Monitor asthma symptoms, plus check:
FENO can be considered for monitoring in adults only. Peak flows not routinely indicated for monitoring.
Not much! Separate section on self management. Vaping/smoking. Factors that affect inhaler use eg school/social. Career plans.
A spectrum of disorders where the normal left-right arrangement of organs in the body is disturbed (“errors of lateralisation”).
Situs inversus is complete mirror image arrangement – there are no health consequences as a result (other than iatrogenic eg delayed diagnosis of appendicitis).
Many genetic causes. Primary cilial dyskinesia (Kartagener syndrome) is one.
Heart – IVC can be interrupted, requiring azygos veins to drain lower body vessels back to heart. Many variations of valves and connections seen. Congenital heart block often seen.
Gut – malrotation, biliary atresia
Asplenia or polysplenia.
Horseshoe or dysplastic kidneys.
Dystrophin is largest gene in body – prone to duplications/deletions. Large errors can be picked up quickly on testing. Point mutations (30%) take more sequencing work.
Duchenne MD is X-linked but girls can get symptoms (or develop later dilated cardiomyopathy) due to lyonisation.
Life expectancy was 18-20 yrs but now with steroids and non-invasive ventilation, 40 plus.
Different natural history trajectories identified – makes trials hard, as not comparable…
Becker muscular dystrophy is similar but less severe. Other muscular dystrophies include myotonic dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophies, and congenital muscular dystrophies. Spinal muscular atrophy related. Management of all similar.
Often delayed (average 2.5 years after onset of symptoms), especially if there are developmental issues that perhaps distract from the motor delay problem (mean age 6.6 years if developmental issues, cf 4.9 years if not). Classically delayed motor milestones, frequent falls, abnormal gait, muscle pain; but sometimes speech and language delay, learning difficulty more prominent. Urine/bowel issues. Later difficulty with jumping, running, climbing steps, and rising from the floor.
Leg flexors tend to stay strong cf extensors – leads to lordosis and contractures, and classic posture where weight forward to avoid jack knifing.
Calf hypertrophy classic. Tone and reflexes reduced (cf cerebral palsy).
Gower’s sign – using hands/arms to get up from floor and to standing position
Creatine kinase levels are elevated. Diagnosis is confirmed by genetic testing.
If CK normal, then EMG and muscle biopsy required.
Lung function should be monitored.
Steroids are recommended from diagnosis. Preserves ambulation, respiratory function (delays the need for mechanical ventilation); avoids/delays scoliosis surgery; delays onset of cardiomyopathy; increased survival.
ACE inhibitors recommended to delay onset of cardiomyopathy.
Gene therapy difficult because of size of gene and problem of packing into vector!
Lots of trials. Givinostat approved by FDA – old drug for JIA! – conditional license in UK, early access programme in UK. Vamorolone is steroid, potent but less side effects eg bone/growth – now recommended by NICE (January 2025).
FDA has approved first gene therapy treatment – but have been fatalities and effect over time unclear.
Ataluren – oral – but EMA have withdrawn license due to poor efficacy.
[Zoya Al-Haswani – Heartlands Hospital]
=Heated humidified oxygen.
Turn machine on at least 15 minutes before use (else high flow COLD air, which is not good).
No battery pack, so can’t move for intubation!
Flow rate depends on size of baby – basically 2l/kg/min, or 12l/min from 6kg. Maximum flow is 20 if over 6kg, no scope for increase below that.
Cannulae should not occlude airways else excessive pressure – no more than 50%
Start at 40% FiO2. Increase if saturations below 94%, increase flow if persistent/worsening work of breathing or resp/heart rate.
Response usually within first few hours – if none then likely intubation required.
Hourly for first 4 hours. Blood gas at 2 hours.
Wean FiO2 in steps of 5% every hour.
Once under 30%, wean flow by 2l/min every 2 hours.
Reintroduce feeds if FiO2 below 40%.
Discontinue treatment once flow down to 4.
Classically a cold abscess, usually in the neck. Ingested soil?
Overlying skin can become discoloured, and ultimately fistulation may occur. Child is usually systemically well.
Blood tests are normal. Mantoux testing can be positive due to cross reaction with BCG. Fine needle aspiration may be most appropriate.
Drug treatment needs to be prolonged and recurrence is common.
Surgery can be tricky.
Graves usually 10-20yrs at presentation. 6:1 female. Usually family history of thyroid or other autoimmune disease. Insidious else acute. Palpitations, diarrhoea, heat intolerance, agitation and deteriorating school performance, weight loss.
Tremor, fidgety, hypertension, goitre (diffuse, smooth), bruit, exophthalmos (rare in kids). Storm can be triggered by infection or non-compliance. Hyperpyrexia, tachycardia.
Neonates can get transient hyperthyroidism driven by maternal antibodies – improves after a few months.
Besides Grave disease, other causes of hyperthyroidism are solitary thyroid nodule (adenoma), multinodular goitre, TSH receptor abnormalities.
Besides TSH, do free T4 and T3. FT3 useful (T4 can be normal!) for showing T3 thyrotoxicosis (usually due to toxic nodular hyperthyroidism or early Grave).
Thyroid receptor antibodies usually positive. Do TPO also.
Carbimazole – Usually 24 months total, TFTs normalise within 12/52 and dose can then be reduced. Neutropenia as idiosyncratic side effect (so FBC monitoring not helpful!). If mild stop temporarily. Propylthiouracil second line (liver failure, ANCA vasculitis)
Radio-iodine – avoid <10yrs. Can have storm. Need long term thyroxine.
Surgery – total or near total excision. Risk of malignancy in remnant. Esp large gland. Hypoparathyroidism as transient side effect. Recurrent laryngeal nerve damage. Iodide used pre-operatively to help texture!
Propranolol short term e.g. 3-4 weeks
Block and replace strategy – where you add thyroxine rather than reduce carbimazole? But 2 drugs not 1!
Relapse common, 2/3 within 2yrs, in adults remission unlikely after 2 years but not true in kids.
Malignancy risk higher in Grave regardless of management…
=anal pain.
Rule out anal fissure (may be hard to see but bleeding or sentinel pile are clues, typically caused by constipation), thrombosed haemorrhoid, infection.
After that, functional (see Rome criteria)- often triggered by defaecation or sitting.
Classifed as acute (less than 20 mins – “fugax”) or chronic (greater than 20 mins episodes). Latter thought to be due to paradoxical pelvic floor contraction.
Biofeedback has best evidence but consider tricyclic antidepressants, Botox, and sacral nerve stimulation (!).
2 main groups – monoamine and GABA disorders.
Oculogyric crisis is characteristic! Can be mistaken for seizure.
So epilepsy with poor response to drugs and normal EEG?
Cerebral palsy with progression?