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Transition

Common, General paediatrics, OPD

Jargon for the process of transferring care of child to adult services, or to independent self management.

Paediatricians famously bad at discussing issues such as sex, drugs, alcohol, careers! And famously bad at seeing young people one to one, without parents present!

Raise contraception as soon as puberty comes up in clinic!? But remember that complications of pregnancy probably a bigger issue to discuss!

Ready, steady, go! is RCPCH document on the general principles, whereby you assess readiness for transition, and aim to provide information in an appropriate format (typically in small chunks) and at the right time (young person led). Then ideally one or more joint clinics with adult service, if appropriate.

Hemihypertrophy

General paediatrics, Genetics, Haem/Oncology, Orthopaedic

=Asymmetric overgrowth of one limb, or one side of the body, or just one side of the face.

Can be associated asymmetric overgrowth of internal organs.

Can be an isolated finding (of unknown cause) or associated with syndromes such as Beckwith-Wiedmann, Klippel-Trenaunay-Weber, or McCune-Albright syndromes.

Essentially a cosmetic problem. But increased risk of tumours, including Wilm’s tumour, adrenal cell carcinoma, hepatoblastoma and small bowel sarcoma.

Risk of tumour development in isolated hemihyperplasia is about 1 in 20 or approximately 5%. Given that oldest reported case was 6yrs and shortest interval between tumour presentation and ultrasound was 5 months, suggested that till age of 6 years these children should have abdominal ultrasound scans at three monthly intervals.

Focal epilepsy

General paediatrics, Neurology

As opposed to generalized epilepsy. Potentially associated with a brain lesion (congenital or acquired), but not always. EEG will usually confirm.

Associated with prolonged or focal febrile convulsion – chicken or egg?

See:

Temporal lobe epilepsy

The most common focal epilepsy.  Sense of déjà vu, phantom smells, panic attacks as possible aura symptoms! Talking gibberish, lip smacking, staring, posturing are more obvious.

Treatment

Levetiracetam or Lamotrigine first line, the former (Keppra) can be loaded more quickly though.

Honey in medicine

Allergy, General paediatrics, Infectious disease, Neurology, Nutrition

Contains a range of different sugars, aromatic oils, also pollens and bee proteins. Royal jelly and beeswax related, of course.

High fructose content can cause GI intolerance in some.

Allergic reactions can happen, often unrecognised, mostly due to specific pollens (depending on what flowers the bees feed on), in minority to bee proteins. Commercial honey tends to contain v low amounts of pollen, due to production techniques. IgE test for honey is available, but you may need to skin prick test with the specific honey if negative.

Honey eaten all year round is rumoured to prevent hay fever symptoms because of the pollens it contains, but this has not been proven, although it’s a nice idea related to immunotherapy. Depends on getting the right pollens of course – bees don’t like grass and birch flowers, probably. In some it may just trigger allergy symptoms.

Cross reaction between honey and bee venom is reported, not surprisingly, but not automatic.

Plant toxins can be present in sufficient quantities in honey to cause poisoning eg rhododendrons (some species).

Botulism reported in infants – failure to thrive, hypotonia, cranial nerve palsies. Clostridium and other bacteria cannot grow in honey due to the high sugar content, but spores can be present. So advice is not to give honey to infants.

Coagulation

General paediatrics, Haem/Oncology

Extrinsic pathway triggered by tissue factor on cells outside blood vessels.

Intrinsic pathway triggered by subendothelial surfaces activating factor XII, then XI, then IX.  IX and VIII combination with calcium and platelet membrane phospholipids activates X.

Common pathway then continues, with X combining with V, platelet membrane phospholipids and calcium to convert prothrombin to thrombin.

Thrombin converts fibrinogen to fibrin, to form thrombus.  Factor XIII stabilises clot.

Issues:

  • Vitamin K deficiency: 1:1200 breast fed (low levels), 1: 8500 formula fed. Preventable with single IM dose of Vitamin K. Can present up to 6 months later though typically 3 months.
  • Vitamin K may be affected in babies by maternal medicines eg anti-epileptics, or by liver disease.
  • Disseminated intravascular coagulation especially sepsis. Platelets fall too.
  • Haemophilia
  • Haemophagocytic syndrome (anaemia and other cell lines affected)
  • Thrombophilia

Fanconi anaemia

Genetics, Haem/Oncology

Autosomal recessive condition characterized by severe hypoplasia or aplasia of the bone marrow (so anaemia, low white cells and thrombocytopenia). Clue is congenital hand defect, but lower limb, head/eye/ear/genital abnormalities also common.

Majority also have cafe au lait spots.

It is possible to diagnose Fanconi anemia before bone marrow failure occurs, with potential to find bone marrow match.

Diagnosis is by Chromosomal breakage studies.

Radial dysplasia

General paediatrics, Genetics, Orthopaedic

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.  

Investigations

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

Renal tubular acidosis

General paediatrics, Renal

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

Allergy, General paediatrics

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

Allergy, General paediatrics

Food safety is taught in schools sometimes, and covers food borne illnesses and food hygiene. When it comes to food allergy, there are a few differences – alcohol hand gel, for example, is good for preventing food borne illnesses but does not protect against cross contamination of allergens.

  • Inform family and friends about allergy, and not just on the day you are expecting them to produce safe food
  • Ask about ingredients of unfamiliar food
  • Declare allergy in restaurants, cafés, when ordering take away food (preferably to a real person rather than just via a comment on an app/website, and preferably to the person actually making your food)
  • 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 cross-contamination – this is where traces of a food are spread accidentally from one place to another. This could be on a table or chopping board, it could be a storage container or pan that has already been used for something else, it could be a knife or spoon, a plate, or a person’s hands. The traces may be invisible, and will remain there until cleaned away. So labelling of containers is important, as is cleaning of surfaces, crockery, hands and utensils after food has been touched or prepared (alcohol gel is NOT suitable for removing allergens, just germs)
  • Carry allergy medicines and plan when out of home/school