Category Archives: General paediatrics

Fabricated and induced illness

Child protection, General paediatrics

Five possible causes for discrepancy between reported and observed symptoms/signs suggested in the RCPCH guidelines:

  1. Exaggeration due to anxiety, poor understanding, lack of knowledge
  2. Carer misperception of child’s illness leading to genuine belief that child is ill
  3. Carer actively promotes sick role by non-treatment or fabrication/falsification or induction of illness (‘true’ FII)
  4. Carer suffers from psychiatric condition which leads them to believe the child is ill
  5. True medical condition

It is important to keep an open mind and to carefully plan appropriate assessments for both medical causes and evidence of maltreatment, without putting the child at further risk of harm.

RCPCH National guidance supports the clinician and team in withholding concerns about FII from the parents at early stage of investiagion. This highlights the main difference in dealing with suspected FII compared to other forms of abuse. Documentation and information sharing need to be handled carefully, as alerting the parents to your concerns may put the child at greater risk of harm – concerns should not be recorded in case notes, parents should not be informed.  Important that team is united.

Gather information about the parents’ background and any known health problems, including some assessment of parenting capacity and risk factors such as domestic violence, mental health issues or drug abuse. This is essential not optional.

Chronology – given multiple attendances for multiple children with different services, helps see overall picture for a family.  Should also include significant events eg moves, bereavements etc.

It is important to feed back your findings to the parents that there appear to be no medical problems and that this is good news.  How family responds to initial assessments and management plans is key to making the diagnosis.

In-patient: clarify nursing ability to supervise 24hrs a day.  Can child leave ward with/without nurse escort?  Who gives medication/food/drink?  Where should notes be kept?

If parents demand a new consultant, you can agree to involve another consultant for a specific medical issue eg asthma/epilepsy.  You should definitely discuss with named doctor.  CAMHS could also be useful for discussing case (and supporting staff, esp if conflicting views)

Disclose to parents – if decision is made to disclose concerns, keep it positive (health of child, etc).  Bring in dad, gran etc if potentially useful.  Don’t confront or challenge, acknowledge how parents and professionals can have different perceptions and responses to a child’s problems.  Present united front, and unambiguous plan.

 

Seborrhoeic dermatitis

Dermatology, General paediatrics

Scaly skin condition in babies, particularly affecting scalp. Red/orange scales, oily, flaky.  Not terribly itchy.

Affects sebaceous (greasy) zones – face, scalp, centre of chest, skin folds (neck, groin).  Often nappy rash. V common (includes dandruff!).  Inside, outside and around ears can be affected.  Eyelids can be affected (blepharitis).

Babies get transient type – cradle cap (scalp) and nappy area, clears after a few months.  In adults, affects face (esp around nose and ears) and can affect chest and upper back. Can lead to hair loss but more usually cosmetic concerns.

Thought to be caused by overgrowth of Malassezia yeast.  Can be severe in HIV.

Differential is psoriasis.  Scales in psoriasis are thicker and whiter – unusual for face to be affected.

Treatment

For cradle cap in babies, usually enough just to use daily mild shampoo and gentle brushing.  Shampoo may make it worse if the diagnosis is actually atopic dermatitis!  Failing that, coconut oil (NOT olive oil, which has potential to damage skin, apparently) or other moisturizer left in overnight or applied just before bath.

For scalp, Zinc pyrithione, selenium or ketoconazole shampoo (but only licensed for older children).  Leave 5-10 mins before rinsing.  Descaling treatment available – coconut oil and salicylic acid, needs hours.

For body, moisturizer, topical steroids+antifungal eg Canesten HC, Trimovate.

For blepharitis, use baby shampoo to lift flakes.

In adults, anti -androgens.

LEAP-On study

Allergy, General paediatrics, Immunology

Follow-up from LEAP study, after both groups (eating and avoiding) told to avoid peanuts for 12 months. The rate of adherence to avoidance in the follow-up study was high (90.4% in the peanut-avoidance group and 69.3% in the peanut-consumption group). Peanut allergy at 72 months was significantly more prevalent among participants in the peanut-avoidance group than among those in the peanut-consumption group (18.6% [52 of 280 participants] vs. 4.8% [13 of 270].

[George du Toit, Gideon Lack in London, DOI: 10.1056/NEJMoa1514209]

Enterovirus

Common, General paediatrics, Infectious disease

Mild: fever +/- rash, hand/foot/mouth, herpangina, pleurodynia, pharyngitis, conjunctivitis, croup.

Serious: meningitis, encephalitis, acute paralysis, neonatal sepsis, myo/pericarditis, hepatitis, chronic infection (immunocompromised).

Meningo-encephalitis in neonates usually associated with other organ involvement. In adolescents headache can be severe and symptoms last several weeks! Early CSF can show around 1000 neutrophils! Prognosis good, although some subtypes with encephalitis highly aggressive eg EV-71 outbreak in Taiwan in assoc with hand/foot/mouth (78 deaths).

Acute flaccid paralysis can occur cf polio. Particularly Enterovirus EV-D68 (also associated with respiratory disease), some clusters.  Increased incidence across Europe including Wales since April 2016.

Neonatal disease can be severe, mimicking bacterial sepsis or HSV. Maternal history is often elusive.

Virus is shed in throat and stool (rectal swab quicker than stool!), can also be detected in CSF, blood and urine.

Role of IVIG is unproven but antibody plays an important role in immune response to EV. Pleconaril in enteroviral meningitis RCT, 38% to 50% improvement in symptoms in the drug-treated group with improvement noted as early as 24 hours after initiation of therapy – no longer available.

[Current Opinion in Pediatrics. 13(1):65-9, 2001]

Human Parechovirus has been described in Japan, Canada and now the Netherlands, causing neonatal sepsis or encephalitis in about 10% of cases where culture suggests enterovirus but PCR is negative. [Clin Infect Dis. 2006 Jan 15;42(2):204-10]

Multiple sclerosis

Genetics, Neurology

Only 3-5% of cases of MS have symptoms before the age of 16. Most have a relapsing-remitting course, particularly in the beginning, typically with one to two relapses per year. The frequency of attacks does seem to predict disease severity and earlier evolution to secondary progressive phase.

Although it takes longer in kids to develop persistent disability, they still develop it at a relatively young age, for example the third or fourth decade of life. That is of course going to have significant effects on life course, including work and family life.

Even at onset, cognitive function is often reduced, which will also affect education and socialisation. So clearly there is interest in disease modifying treatments.

Presentation in younger children often follows an infectious illness. Cognitive impairment is more common relative to older kids.

Investigations

MRI of brain and spine, looking for demyelinating lesions.

Monoclonal bands in CSF.

Treatment

Steroids 10-30mg/kg for 3-5 days effective. No good evidence for IVIG. Where acute life threatening symptoms, plasmapheresis may be effective where steroids fail.

In adults good evidence for interferon Beta in relapsing-remitting disease, IM or SC depending on product, reduces relapse rate and probably slows progression of disability. Glatiramer is a synthetic product with similar effects.

Second line treatments in adults include Natalizumab, mitoxantrone and cyclophosphamide.

Differential diagnosis

  • lysosomal storage disorders,
  • various mitochondrial diseases,
  • other neurometabolic disorders,
  • Krabbe, Metachromatic leukodystrophy, X-linked adrenoleukodystrophy, Fabry, Niemann-Pick C, Chidak-Higashi.  [Clue is in the name, leukodystrophy]

Since these are genetic conditions, essential for management and genetic counselling.

J Weisfeld-Adams http://brain.oxfordjournals.org/content/138/3/517

Mitochondrial inheritance

Genetics

A mother with a mitochondrial DNA gene mutation will pass this abnormal gene to all of her children. The children will all be affected, but with different degrees of severity.

As it is not possible to predict how the children will be affected, this is immensely difficult for planning a family.

Leigh disease

General paediatrics, Genetics, Neurology

Infantile subacute necrotizing encephalopathy.

Clinically heterogenous, lots of different genes.  Can be X-linked, mitochondrial or recessive!!!  Main genetic problem is mitochondrial complex defect, but same disease can be caused by pyruvate dehydrogenase defect (actually a complex of enzymes).

Baby’s initial development may appear normal, although there may be failure to thrive.  Lactate can be raised in serum.  Progressive, often rapid, neurological deterioration including hypotonia, dystonia, seizures.

Lesions (necrotic, gliosis, spongiosis) seen in basal ganglia, brainstem, cerebellum, spinal chord.  CSF lactate and pyruvate may be raised, even if serum normal.

See mitochondrial inheritance.

 

Legume/pulse allergy

Allergy, General paediatrics

Legumes, pulses, beans…  Some terminology first: legumes are plants in family Fabaceae (or Leguminosae).  Pulses are (strictly) those cultivated for DRY seed, as opposed to green beans, broad beans etc that are eaten fresh.  Lentil simply describes shape (“like lens”).  So other examples of legumes are peanut, lupin, tamarind, carob, alfalfa!

Very common cause of food allergy, even excluding peanut! And varies across different cultures, depending on typical pulses used.  Fifth most common cause of food allergy in Spain.  In India, often a trigger of asthma/rhinitis when being boiled.  Cross sensitivity is seen, but not automatic, and hard to predict.

Soya allergy is sometimes seen in highly atopic babies, but otherwise actually pretty rare (except in Japan) – lucky, cause gets into lots of different things eg many breads.  Soya lecithin is a common additive, used to make texture more smooth, but usually only in very small amounts. Fermentation eg soy sauce appears to significantly reduce allergenicity, soya flour also seems less allergenic than soya milk, even though most of the allergens are cupins eg 2s albumin and would therefore be considered heat stable.

Lupin is used in some continental baked goods, for example packaged waffles.  A good proportion of peanut allergic children will be allergic to it too, but as lupin is not found very commonly most will never know or have a problem with it. A few restaurants (in UK and abroad) have lupin in their allergy menus.

A couple of lentil allergens have been identified including a vicilin and a lipid transfer protein.  In my experience pappadoms can often be tolerated – there is certainly evidence that autoclaving for 30 mins can affect binding, but these are only deep fried for a few seconds.

Both the known pea allergens are vicilins, hence cross reactivity with lentil.  Chickpea allergens however are not (one a prolamin, the other a cupin) – still, cross reactivity fairly common.

French beans have an LTP so potentially severe, and potentially fruit allergies too.  Green (mung bean) and red gram are cupins, black gram appears to be something else.

[Clin Rev Allergy Immunol. 45(1):30-46, 2013 Aug]

Thyroid

Endocrinology, General paediatrics

Thyroid issues can be congenital, neonatal, autoimmune, or related to syndromes eg Downs, Digeorge.

Note that thyroid function tests can be affected by intercurrent illness, there is also viral thyroiditis where you might get transient (usually mild) abnormalities.  So borderline results (especially if asymptomatic or other medical issues) usually just need repeated.  If results confusing, do T3.  If normal then abnormal T4 likely to be transient.  If suspicion of evolving problem, do autoantibodies (TPO antibody, Thyroid Receptor Ab (TRab)).  If progressive decline then likely to be emerging autoimmune condition.

All kinds of unusual clinical presentations in thyroid disease, for example:

  • Effusions in hypothyroidism, including pericardial effusions – capillary dysfunction!? Impaired lymphatic drainage?
  • Body pain
  • Precocious puberty (although delayed more typical)