Common viral skin infection of children – perfect, umbilicated papules, take a few months to disappear.
Not usually a problem but can be very widespread and can trigger a dermatitis.
Treatment is trickly – you can get Cryotherapy or curettage but might scar.
Antiseptics such as hydrogen peroxide cream or povidone iodine solution may help.
Podophyllotoxin cream? Wart treatments (salicylic acid)?
If actually inflamed, treat in the usual way with mild topical topical corticosteroids.
Chromosome 15q11 related. Results from deletion of paternal copy of imprinted gene (the rare genes where the copy from one parent is turned off by DNA methylation). See also Angelman syndrome (also chromosome 15).
Beware pregnancies with Trisomy 15 where subsequent testing looks like normal diploid…
Classically severe hypotonia at birth, often with mild growth restriction, causing significant feeding difficulties.
Facial appearance characteristic even at birth: high forehead, narrow bifrontal diameter, downturned corners of the mouth, micrognathia, and dysplastic ears. As they age, almond eyes become apparent, face is rather unexpressive of course. Hands are small.
After age 1, ironically, appetite then seems to surge, leading to obesity.
Scottish genomic test directory says test if:
=Avoidant restrictive food intake disorder.
Extreme fussy eating, low appetite, slow eating, rigid eating behaviours eg brand-specific or position of food on plate. Often related to sensory issues (texture, colour, temperature) but also anxiety about potential choking or vomiting (emetophobia). But often food/eating is the only issue.
BPSU study 2024 described 300 cases across the UK. Slightly more boys than girls, 71% white. Comorbidity (anxiety and autism spectrum disorder) common.
Case definition from BPSU was:
If known medical/mental disorder, the severity of eating disturbance should exceed that routinely associated with the particular condition/disorder.
In practice, consider where:
Iron found in:
Vitamin C helps absorption.
See also anaemia.
As with care of other chronic conditions, transition to adult services needs to be planned well ahead of turning 16. Focus and decision making should be more around the young person themselves.
Topics include:
Specific things for epilepsy are:
See https://www.youngepilepsy.org.uk/parents-and-carers/adolescence-and-beyond/transition-to-adult-healthcare and other patient/family support websites.
A type of functional GI disorder. Thought to be similar to migraine – periodic, sudden onset repeated vomiting, but without headache. Then fine for weeks/months.
Can be severe enough to require admission for IV fluids. Even if not, child can be wiped out for days.
Try hot baths or showers.
NASPGHAN consensus guidelines recommend anti-migraine abortive agents if personal/family history of migraine eg Sumatriptan spray/tabs. Potentially worth trying Ondansetron (melts make sense – 5HT3 receptor antagonist). Neurokinin 1 (NK-1) receptor antagonists have anxiolytic and antidepressant properties eg aprepitant – BNFc has doses for children, and SMC have approved for chemotherapy. Comes as sachets or oral capsules.
The sedating antihistamine Promethazine is helpful in some cases and has a lower wide effect profile than perhaps some other anti-sickness medicines.
Electrolyte solutions rather than just water, ideally containing some sugar for energy. These come in gel, bottle or powdered form.
Adults with this condition often use cannabis!
Preventively, trigger avoidance, “supplements”, various “biobehavioural interventions” described.
Preventive drugs include beta blockers, ondansetron/aprepitant (as above), Amitriptyline or Topiramate.
Patient information at Migraine Trust.
=Glucagon-like peptide receptor agonists eg semaglutide.
Indicated as an adjunct to a reduced-calorie diet and increased physical activity for chronic weight management in adults with an initial BMI ≥30 kg/m² (or ≥27 kg/m² with at least one weight-related comorbidity).
NICE recommends as an adjunct to lifestyle measures only when:
NICE recommends using lower BMI thresholds (eg 2.5 kg/m² less) for people from South Asian, Chinese, other Asian, Middle Eastern, Black African or African-Caribbean family backgrounds.
RCT data showed that patients receiving semaglutide lost an average of 6% to 16% of their total body weight compared with controls, when combined with other behavioural modifications. It has also demonstrated cardiovascular benefits: in adults aged 45 and older who have concurrent cardiovascular disease (but no history of diabetes), semaglutide reduces the overall risk of major cardiac events (heart attack, stroke, or cardiovascular death) by 20% at a mean follow-up of 40 months.
Common adverse effects include explosive diarrhoea, nausea, eggy burps, headache, fatigue, and hypoglycaemia in diabetic patients. Contraindicated in history of thyroid medullary cancer or MEN2.
Liraglutide is similar but was inferior in 1 head to head trial. Daily SC injections.
Tirzepatide is a dual glucose-dependent insulinotropic polypeptide and GLP-1 receptor agonist. Weekly SC injections. RCTs showed weight loss of 18-20%. Similar indications and contra-indications.
=Faints, “whitey”. Insufficient blood to the brain, due to immature or hyporesponsive autonomic nervous system control of cardiac output and peripheral vascular tone.
Similar symptoms with POTS but with obvious drop in blood pressure.
Symptoms of light headedness, feeling hot/clammy, dizziness, black spots in vision or tunnel vision (pre-syncopal), potentially followed by collapse, which can be remembered in most cases. Can be brief posturing or clonus due to hypoxia, but only for a few seconds, which freaks everyone out as it looks like an epileptic seizure.
Recovery is fast, within seconds or a minute, once circulation to brain improves – requires that person is left lying on ground and not propped up!
They look pale, feel hot, but once on ground go clammy/sweaty. Heart rate and blood pressure typically low.
Typically fast growing teenagers, but can be anyone. In some, lifelong tendency. You can suffer significant facial trauma from syncope so it’s not trivial, if recurrent can also be disabling with significant psychological co-morbidity. Usually prolonged standing, or standing up after sitting/lying for a while (especially boys going to the toilet for a pee). Other common triggers are physical stimuli (reflex syncope) eg painful procedures, esp immunisation (distinguish from anaphylaxis), cannulation. Some unusual triggers eg hair brushing/combing.
Mostly trivial but potential for injury (eg facial fractures) and can be disabling.
Useful to become aware of triggers, so countermeasures can be tried. But sometimes no warning, which is difficult. Worth asking directly how often symptoms happen, as child might not tell anyone.
Other differentials are epilepsy, arrhythmia. Syncope with exercise is a red flag.
These should all work, probably worth practicing though. And should work within seconds. You hopefully only need to keep doing it for 30-60 seconds. [Krediet, J Appl Physiology 2005 Vol. 99 no. 5, 1697-1703 DOI: 10.1152/japplphysiol.01250.2004] All of the evidence seems to come from the Netherlands! Some evidence for isometric arm/hand exercises, but might be incidental abdominal tensing at same time!
Regular meals/snacks. Avoid big carbohydrate meals though – low GI foods (ie wholegrain/wholemeal) best to avoid big swings in sugar levels. Avoid sugary drinks for the same reason.
Getting hungry is probably bad – have emergency snacks available (oat cakes, nuts, malt loaf, dark chocolate – not high sugar).
Drink plenty – consider increasing to 2-3 litres. Try to drink 1L in the first 2 hours of the day.
Caffeine?
Salt intake may need to be boosted, especially if a “healthy” eater, or losing a lot in sport. Slow salt tablets?
Good cardiovascular fitness.
Could try putting blocks under the foot of the bed to raise it up 2-3 inches! Retrains baroreceptors.
Desmopressin, to increase circulating blood volume?
Beta blockers? Fludrocortisone? See POTS.
Patient/family info at www.stars.org.uk.
Not a great name, as it can persist for up to 6 months!
Large muscle groups, usually limbs but can be face. Can wax and wane with child remaining sleep. Usually bursts lasting seconds, up to a few minutes.
During sleep only, and stops when wakes.
Other normal baby movements include neonatal release phenomena, including tremors (equal amplitude around fixed axis), jitters (recurrent tremor).
Reassuring if baby unbothered by it; baby in first 7 days of life; if it can be suppressed by passive flexion.
Differential would be hypoglycaemia, hypokalaemia; drug withdrawal; HIE or intracranial lesion; myoclonic epilepsy, startle (including hyperekplexia), hyperthyroidism.
“Persistent physical symptoms” preferred term? Chronic pain overlaps.
“Functional disorder” is used for various gastro and neurological problems, preferred by some adults, but needs explained!
Chronic fatigue syndrome and PANDAS are health disorders that appear to have a physical/scientific cause but disputed.
Health anxiety, malingering, or factitious illness, different from a psychological point of view.
Bleed the symptoms dry! [John Stone, Glasgow].
In a 1965 paper by Eliot Slater, more than half of patients diagnosed as having “hysteria” later turned out to have “organic” disease – but John Stone’s study of adult neurology referrals found very few who turned out to have an occult disease.
Louise Stone in Australia has done a lot of work in primary care. She identifies negative feelings and a lack of diagnostic language and frameworks as barriers to managing these patients effectively. The negative feelings (such as frustration, shame and helplessness), are shared between doctors and patients…
Managing your own feelings and frustrations, and finding ways of understanding and managing the therapeutic relationship important.
Let family feel validated for all concerns – at least in the first instance. Helps develop a therapeutic alliance.
Commit to the patient, which includes advocacy and support.
Family response to symptoms?
Explore beliefs, specific worries (eg cancer). May then allow broadening out to more general worries.
Manage uncertainty – including managing the need for a disease name! Not having a predictable outcome is hard.
Harm minimisation. Shift from diagnosis to coping with ongoing symptoms.
Good to offer a tentative preamble to difficult conversations! “This is something we as doctors have to deal with every day – signs and symptoms that are very real, with a real impact on a child/family, but where physical examination and investigations do not offer any clues to what the underlying problem might be…”
Paed psychology if issues mostly seem related to child and this is a new problem; CAMHS if new problem adding to existing child/parent issues.
Can be rewarding in the long term!
[Louise Stone, Aust Fam Physician 2013 Jul;42(7):501-2]