Category Archives: General paediatrics

Radial dysplasia

Spectrum of congenital abnormalities of hand and forearm, from hypoplastic or absent thumb, to short arm with deviated, clubbed hand.

Commonly part of a congenital syndrome, so refer to a clinical geneticist.

  • VACTERL Association,
  • VATER syndrome,
  • Holt-Oram syndrome ( association of cardiopulmonary and limb defects),
  • TAR syndrome (thrombocytopenia-absent radius),
  • Fanconi anaemia.  


  • Spine x-rays,
  • renal ultrasound,
  • complete blood count,
  • echocardiography

Renal tubular acidosis

Leaky tubules, shedding bicarbonate plus other things, leading to acidosis.

  • Type 1 is distal tubule, which does most of the reabsorbing.
  • Type 2 is proximal tubule, so similar but less severe.
  • Type 3 probably just a mixture of types 1 and 2!
  • Type 4 have high rather than low potassium, so clearly not a leakage issue. Related to aldosterone ineffectiveness.

Types 1 and 2 can present with growth failure, else the effects of hypokalaemia (profound muscle weakness) and acidosis (abdominal pain). Type 1 leads to progressive kidney disease, with the associated bone disease (rickets). May also end up with stones. Associated with sickle cell, Ehlers Danlos.

Type 2 usually Fanconi syndrome so leakage of amino acids, phosphate etc. Can be caused by Cystinosis, Wilson’s, hereditary fructose intolerance, poisoning.

Type 4 often related to drugs, but also Addison’s, urinary tract obstruction.

Allergy Plans

People with a food allergy or who have had a previous severe reaction (anaphylaxis) to anything should have a written plan, describing clearly what they should do if they have a reaction.  This should be completed by your doctor or allergy professional.

This plan should be reviewed every year, to check that the names and doses of medicines are correct, and that it includes a blue inhaler if you have one.

The British Society for Allergy and Clinical Immunology (BSACI) and Royal College of Paediatrics and Child Health have published an allergy plan template that can be completed online and printed, with different versions depending on whether you have been prescribed an adrenaline autoinjector, and which one you have.

Your allergy clinic may have their own version. The BSACI one has the advantages of being in colour, it also includes (in very small print) parental authorisation for a school to administer an autoinjector (technically not legally required of course, but might overcome hesitancy), and a comment about having autoinjector in hand luggage on a plan. It also includes a link to the Spare Pens in School website. But it doesn’t emphasize carrying your medication at all times, and doesn’t allow for a second dose of antihistamine unless you vomit the first one.

The plan should list the different signs and symptoms of a reaction, and make it clear which signs and symptoms should alert you to the possibility of a severe reaction.  It should then give clear advice on whether you can give medicine and wait for things to get better or whether you should be using your adrenaline autoinjector (if you have one) and phoning 999.

The plan should ideally stay with your allergy medicines and your child, wherever they go.  You may need copies for other people who help look after your child, for instance grandparents, child minders, nursery and school, after school care. Getting your plan laminated can help it stay legible!

Schools may also want to have a written document that details what extra precautions are necessary in the school environment or on school trips.

Allergy plans are also available from the Epipen and Jext websites, for families who have those adrenaline autoinjector devices.

Safe Food Skills for Allergy

  • Ask about ingredients of unfamiliar food
  • Declare allergy in restaurants, cafés, when ordering take away food (preferably to real person rather than app/website)
  • Inform family and friends about allergy
  • Don’t accept food if unclear what the ingredients are
  • Read ingredients labels #EveryLabelEveryTime
  • Consider the risk of items with “may contain” warnings
  • Appreciate risk of contamination of surfaces/utensils/hands
  • Carry allergy medicines and plan when out of home/school


In neonates and infants, the stretched penile length is at least 2cm in 97% of boys.

Micropenis describes a shorter penis than this, that is otherwise of normal form. Penis needs to be stretched out, and suprapubic fat pad pushed in.

Causes are hypogonadotrophic (Kallman’s syndrome, Laurence-Moon-Biedel-Bart, Prader-Willi) or hypogonadism (anorchia or testicular dysgenesis, Trisomy 21, Noonans, Klinefelter). May be part of more complex syndrome.

Differential is intersex, “buried penis” due to suprapubic fat pad (usually obese), chordee.

Neat trick is to modify a 10ml syringe by cutting off needle end and inserting plunger into cut end. Gives you scale and stretches penis!


Contact dermatitis

Type 4 delayed hypersensitivity seen to a range of things including:

  • Nickel (for example in jewellery, belt buckles, fastenings)
  • Limonene, found in many cleaning products and cosmetics
  • Sodium lauryl sulfate, found in cleaning products and cosmetics
  • Lanolin and other wool products

Mechanism is complicated as metals are clearly not proteins so not identified by HLA class 2 as happens in type 1 allergy. Presumably happens through toll like receptors.

Testing is by patch testing, done by dermatology.

Delayed puberty

Note puberty lines on RCPCH growth charts, for starting puberty (girls 8), delayed beginning (girls 13, boys 14) and completing (girls 16, boys 17).  Delayed completion (especially menses) also needs investigation.  Also a shaded triangle for short boys and girls during this time, to remind that probably ok if puberty not yet started, but potentially a problem if nearly completing.

In girls, rule out Turner’s syndrome.

Otherwise look for evidence of dysmorphism, that might suggest another chromosomal or genetic issue, and evidence for broader pituitary issue (midline facial defects, visual defects, poor growth, child looks younger than their age).

If not central, then must be gonadal issue – check testes, do USS scan to look at ovaries.

Blood tests then to assess pituitary hormones, particularly FSH/LH, plus oestradiol and testosterone.

In girls with amenorrhoea but normal pubertal progression, haematocolpos due to imperforate hymen presents with abdominal pain, urinary retention.

Scarlet Fever

Has Victorian connotations as fatal epidemics of Scarlet fever swept through slums in the pre-antibiotic era.

Group A streptococcus pyogenes is still carried in up to 20% of young children’s throats. Disease peaks in winter and spring (cool conditions, and more time indoors?). Spread easily through saliva.

Scarlet fever (scarlatina is usually used for mild cases) is when an exotoxin is produced, that causes fever and rash. Characteristic features are:

  • Strawberry tongue – progresses from white coated, to red, beefy tongue as coating lifts.
  • Perioral pallor
  • Fiery, widespread rash – rough “sandpaper” feel characteristic
  • Pastia’s lines – lines of petechiae in creases esp wrists, elbows
  • Palatal petechiae (“Forchheimer spots”) – not specific, also measles. 
  • As rash fades, desquamation can occur, particularly on fingers/toes. Should only happen once in lifetime, as antibodies form to toxin!?

No longer notifiable in Scotland, cf England/Wales.

Complications can still be severe of course, as with any group A strep disease:

Benefit of antibiotic treatment just ½ day symptoms! But without treatment would need to exclude from nursery/school for 14 days!!! Else after 24hrs antibiotics.

No resistance to penicillin and low MIC so preferred, although 10 day course needed for clearance from throat, as opposed to clinical improvement. Other antibiotics eg clindamycin may be chosen however if invasive disease.

Allergy and Transition

Although transition is usually meant to describe a process of passing on medical care to an adult service for a chronic condition, with allergy things are a bit different. Firstly, the diagnosis is often made at a very young age and the child may have lived with it for many years before the age where transition processes generally kick in (around 11-13yrs, often coinciding with move to high school), so they may already be very aware of their condition.

Secondly, there is often no need for adult allergy service input, and in some areas eg Eastern Scotland there is no adult allergy service anyway.

The challenge is that young people want independence from their parents, self – determination, at the same time they want to fit in with their peers. It is the developmental task of adolescence to have new experiences (even if they are not as bullet proof as they might imagine), including sexual/intimate relationships. It is normal, indeed appropriate, for them to challenge authority/norms, take risks, experiment, demand rights.

When it comes to allergies, bad eczema may already have affected self-image, self-esteem, caused social isolation.  Asthma may have reduced participation in sports, and has its own negative stereotypes.

It’s sometimes productive to go back in the history, especially where there is a history of anaphylaxis – how much is chronic parental anxiety, how much terror of further reaction. 

Non-judgmental approach important.  Particularly important for a young people to be treated as an individual.  When it comes to risks and safety, key in allergy, it’s all about balance – fear of reaction vs being “normal”.  Requires negotiation.

“I have found the best way to give advice to children is to find out what they want and then advise them to do it.” [Harry Truman]  “When I was a boy of 14, my father was so ignorant I could hardly stand to have the old man around. But when I got to be 21, I was astonished at how much the old man had learned in seven years”. [Mark Twain]

EAACI has 2020 guidance, combined allergy and asthma, by Graham Roberts in Southampton. Key points are:

  • Do you use a structured multidisciplinary transition programme for allergy?
  • Do you use a checklist of skills and knowledge to assess readiness for transition?
  • Do you communicate with your young persons via text or other mobile technology?
  • Do you discuss exams and impact of allergic rhinitis?
  • Have you had any specific teaching or training in transitional care (generic and/or allergy specific)?
  • Do you recommend any specific websites or apps for allergy advice/support?
  • Do you focus consultation on areas where young person says they are not confident?
  • Do you provide (“formulate”)  a personal allergy plan?
  • Do you offer information about any peer-led interventions?
  • Do you discuss exams and impact of allergic rhinitis?
  • Do you recommend any specific websites or apps for allergy advice/support?
  • Do you focus consultation on areas where young person says they are not confident?
  • Do you provide (“formulate”)  a personal allergy plan?
  • Do you identify psychosocial issues, using a tool such as YouthCHAT (online, 8 mins) – includes physical inactivity, eating disorder, problems at home, sexual health etc.
  • Do your friends understand you have an allergy and how to manage an emergency?
  • Do your teachers understand you have an allergy?
  • Do you signpost to high quality online resources?  Do you discuss the role of social media [ie how moderation is desirable, to keep chat positive]
  • [other stuff more relevant probably to asthma]

CYANS is similar, suggesting bite sized topics including:

  1. Do you confirm that they know their diagnosis accurately, and are not avoiding any foods unnecessarily?
  2. Do you discuss specific foods/cuisines that they need to be careful with?
  3. Do you discuss the potential risk from foods labelled “May contain…” or with similar precautionary labels?
  4. Do you discuss experience of food shopping and cooking?
  5. Do you check how confident they feel explaining their allergy to others?
  6. Do you discuss the potential for alcohol to increase the risk of anaphylaxis?
  7. Do you discuss the potential risk from kissing?
  8. Do you present a scenario of an unexpected reaction, to check their understanding of anaphylaxis symptoms and appropriate self management?
  9. Do you see them alone (with parental agreement)?