In children, one of the most common causes is excessive milk consumption, which appears to lead to a low level colitis. Pica is often the presenting problem.
Investigations
Blood film – Howell Jolly bodies if hypersplenism. Leucoerythroblastic reaction (with immature red cells, as well as immature white cells) can be due to malignancy but can also be due to infection and haemolysis. Spherocytes or other abnormal forms may suggest a hereditary haemolytic condition. Sickle cells in sickle cell disease.
Low MCV suggests lack of iron, but may also be due to thalassaemia.
Reticulocyte count – indicates on going red cell production, may be high if recovering from low production
White cell count and platelets – if low too, suggests bone marrow failure but parvovirus can knock off all cell lines too.
Coagulation – deranged coagulation with low platelets suggests disseminated intravascular coagulation (DIC), usually due to sepsis, but can also reflect haemophagocytosis syndrome (due to sepsis or rheumatological disease)
Polycythemia vera very rare in kids but described from age 7 months! More typically age 5-14yrs.
Haemoglobin range of 15.5 to over 25, with haematocrits from 41-80%. Yet high values often seen in asymptomatic teenagers. Partly this is because pre-pubertal range is different, but lab can’t know pubertal status so will cut off at an arbitrary age. Our lab gives normal up to 18 for adult males and 16.5 for adult females.
Symptoms are headaches, pruritus, dizziness/syncope. Serious complications not uncommon, often part of presentation eg Budd-Chiari syndrome, stroke, haemorrhage. Leukocytosis appears to be associated with higher risk of complications. Thrombocytosis often seen.
Molecular studies available. [Ann Hem 2009 PMID PMID: 19468728]
In children under 10, high BP is usually secondary to an underlying disease or condition. Primary hypertension increasingly recognised in older, obese children.
Do repeated measurements, ideally automated home BP monitoring, before diagnosing hypertension. Check manually as well as with automated device. Beware “white coat effect”, even if not clearly anxious.
Use appropriate cuff size – cuff should cover at least 75% of the upper arm from the acromion to the olecranon (should be sufficient space at the antecubital fossa to apply stethoscope!) . An inappropriately small cuff will overestimate BP.
Gram negative diplococci, causing meningitis and septicaemia. Sometimes bone/joint infection. Neisseria (not meningitidis) responsible for ophthalmia neonatorum.
Main serogroups:
A – responsible for epidemics of meningitis across “Meningitis belt” of Sub-Saharan Africa, until Men A monovalent vaccine introduced in 2010 (still epidemics, but due to other serotypes). Hajj also triggers outbreaks.
B – 4 component vaccine introduced in 2015 to deal with B being the most common cause of invasive meningococcal disease since introduction of MenC vaccine. Based on vaccine developed for New Zealand epidemic.
C – used to be most common cause of invasive meningococcal disease in UK until vaccine introduced. So successful that early dose was dropped from routine schedule, although later resurgence in older children and young people, so teenage booster and university catch up programme introduced.
Clinically, notorious for rapidly evolving, often fatal septicaemia with non blanching rash and limb ischaemia. Curiously, meningococcal meningitis, on the other hand, is the most benign of the various causes of bacterial meningitis. Can be mixed picture, ranging from a few petechial spots only with an otherwise typical meningitis presentation, or else meningococcal septicaemia with neck stiffness, where presence of meningitis is actually a good prognostic sign.
Exquisitely sensitive to antibiotics. Meningitis epidemics in Africa treated with single IM dose ceftriaxone!!! Nasal carriage is the reason for spread, so prophylaxis for close contacts important.
Where to start!? Leaches, blood letting, pretty much everything doctors did in the pre-modern period…
Thalidomide and birth defects, of course. But unforeseen.
X-rays for pregnancy monitoring. Took years before people paid attention to the alarms. X-rays were also used for tinea capitis – not just brain tumours, strokes and ischaemic heart disease about 30% higher too.
Ribavirin (via SPAG machines) for RSV. Not harmful, just useless and expensive.
Iron supplements for preterm babies – increased sepsis.
Evidence that having a peanut allergy has worse quality of life for a family than having diabetes… Mostly due to fear of unexpected severe reaction, and restrictions on social activities particularly eating out, parties and holidays.
Allergic patients can feel embarrassed or even ridiculed for declaring their allergy. Allergy is often mocked in the media (Cobra Kai, the Box Trolls, Peter Rabbit), asthma in particular.
School and nursery are a particular area of concern, whether the right foods will be served, whether teachers or other children might bring allergens into school (food is sometimes used in classes, for example making bird seed balls), whether reactions will be managed appropriately, school trips. Children have died in school (Nasar Ahmed, Mohammed Ismaeel Ashraf).
APPEAL study 2022 – UK & Ireland, peanut allergy – 87% of parents/care-givers (not clear if mums or dads) felt moderately or severely restricted eating out, choosing where to eat (82%), special occasions (76%) and when buying food from a shop (71%). 52% of survey participants reported being bullied because of their allergy. But variable – some feel allergy has minimal impact on their health-related quality of life.
Mums tend to be more concerned by limitations in the child’s own social life, dads seem to care more about limitations in the whole family’s social life. [Stensgaard, Clin Exp Allergy 2017]. Mums are the ones most studied. There probably are significant differences between mums and dads. In some studies, parents overrate their child’s quality of life, but in others (particularly with teenagers) parents can be seen as over anxious. Teenagers tend to take on the perspective of the parent of the same sex.
How bad previous reactions have been, interestingly, does not in itself contribute significantly to quality of life – in some cases, not having ever had a reaction can make families more anxious, because they don’t know what to expect! In one study, having multiple allergies and having an adrenaline pen was associated with worse quality of life. [Protudger, Clin Transl Allergy 2016]
Parents can feel guilty if their child has a reaction, a failure of their duty to protect. Mums can feel guilty about having “caused” their child’s allergy, either through their own medical history or what they ate or didn’t eat in pregnancy (even there is no good evidence for this being a factor).
Better quality of life is seen in allergic families with greater self efficacy for food allergy management, and lower perceived likelihood of a severe reaction [Knibb, Pediatric Allergy & Immunology. 27(5):459-464, August 2016].
APPEAL-1 study
8 European countries, questionnaire study of adults and children with peanut allergy.
Only a minority remembered getting any training in future
emergencies or use of medication, after their initial reaction. There was a low
rate of satisfaction with AAI training!
43% reported bullying, and a third of these described it as
severe.
65% confident in ability to recognize a reaction, but only
45% confident about knowing when to use an AAI and 59% how. 62% say the carry AAI all the time.
25-30% said it was not easy (or rarely easy) to talk to
friends or family about their allergy, although most felt confident talking to
new people about their allergy. Friends and family were generally seen as “believing
there is too much concern over allergy” even though overall they were seen as
having a good awareness and understanding of allergy (cf other people, where
this was seen as the opposite).
Dutch respondents had lowest rates of uncertainty and stress
around activities, and for feeling anxious.
At same time, they had the highest rates of confidence around knowing
when and how to use AAI. France had
highest rate of being made to feel different in a negative way, and feelings of
isolation.
NB – likely to be the most affected families who
participated.
Idea came from Prof Kate Lorig, rheumatologist in US. Trained lay educators had better outcomes than conventional clinic appointments. In 2001, became an NHS programme, aimed at cutting costs of chronic disease.
Technology has aided this massively – see “E-patients“. But of course variations in access to technology and tech literacy.
Survey of UK public found 42% had read online healthcare feedback esp researching treatment, drug, test. Mostly younger female, high income, high internet use. Only 6% of public remember being asked to give feedback on health care experience – ever. 28% of doctors aware of feedback relating to an episode of care they were involved in. This shows a lack of organisational preparedness, given government policy paper for future of data and online services in healthcare.
Patient centred networks not well understood. Can have links to health professionals, but can also be tied to industry/commercial interests, may even be driven by industry. Online resources scored higher with e-patients for convenience, emotional support, empathy, death and dying, in depth medical information, practical help. Specialist physicians rated highest for diagnosis, technical knowledge (just), managing condition after diagnosis. So online resources score highest where medics poorest and vice versa. So combination of both ideal! Also, medics come and go. Some patient groups have published their own research eg GIST group.
But behaviour change, specifically when talking about self-efficacy, is very individual and psychology focussed. Less exploration of social influences, other than focus on peer modelling.
Foucault, of course, was fascinated by how people can become obedient, self governing, and how this is produced by the efforts of “pastoral power”, in a similar way to the Christian church and the process of confession.
Trisha Greenhalgh would say that although collaboration between patient and doctor is important, it’s still just one aspect of a whole system that includes community, material conditions, law/policy, social deprivation, cultural norms etc.
An acute inflammatory demyelinating polyradiculopathy, almost certainly autoimmune since antibodies to ganglioside are often found. Some cases are purely motor, others are mixed motor and sensory. About a quarter follow Campylobacter infection, where there is clear homology between bacterial epitopes and gangliosides. Strongly associated with HIV in the tropics.
Usually gradual onset over a few days but rarely can be over a few hours. Diarrhoeal illness a few weeks previously suggests campylobacter. Presents with pain, numbness, paraesthesiae, weakness. Weakness may initially be proximal or distal (distal alone suggests “withering” axonopathy eg toxin). Facial nerves often affected (see Miller Fisher syndrome, below).
Reflexes usually lost early but sometimes persist. Autonomic features may occur (vagal nerve involvement) eg urinary retention, sinus tachycardia, ileus. The degree of paralysis can be extreme – up to 20% require ventilation.
Gradually worsens, peaks at around 2 weeks (by definition, within 4 weeks). Then there is a variable plateau phase. 20% will have persisting disability; fatigue is common. Myelinopathy usually recovers quite rapidly; axonopathy takes months to years. Neuronopathy is where the dorsal root ganglion cell body itself is damaged, and may never recover. [Am Fam Physician 2020]
The diagnosis is often pretty obvious but investigations should be done to rule out other causes. If purely motor, differential includes hypokalaemia, polio, myasthenia gravis, botulism, acute myopathy.
MRI brain and spinal cord – low threshold! Consider if acute or rapidly progressive, predominantly sensory symptoms (including back pain), predominant sphincter disturbance at presentation, clear sensory or marked motor level. MRI may show enhancing nerves esp cranial nerves, but more usefully excludes:
a spinal lesion (eg prolapsed disc, haemorrhage or tumour)
para-sagittal cerebral lesion, which can present as acute painful flaccid paraparesis
Acute Transverse Myelitis
ADEM
Lumbar puncture – Elevated CSF protein has high PPV but not specific (and may be normal within seven days of onset). Pleocytosis eg >50 cells/mm3 suggests another diagnosis. In children, lumbar puncture is not always necessary to make a definite diagnosis, and should be reserved for cases where the diagnosis is in doubt. Oligoclonal bands present in CSF and plasma.
Nerve conduction studies – may be normal in the first week! Demyelinating pattern. May be useful in children who present with atypical features, normal CSF protein after the first week following presentation or in categorising the subtype of GBS – for example, Acute motor axonal neuropathy (AMAN)
U&E (hypokalaemia)
Creatine kinase (myositis)
Acute and convalescent serum for viral and mycoplasma antibody titres (Mycoplasma pneumoniae, EBV, CMV, Borrelia burgdorferi).
Throat swab; stool microscopy, culture and sensitivities (Campylobacter jejuni)
Antiganglioside antibodies (for example, anti-GQ1b antibodies in Miller-Fisher syndrome)
Monitor respiratory ability with serial peak flows.
Consider also:
Heavy metals and toxins (lead, mercury, arsenic, organophosphates)
Urinary porphyrins
Botulinum toxin identification (stool, serum) (but eyes usually involved)
Diphtheria (but eyes usually involved)
Drug toxicology screen
trial of intravenous edrophonium (Tensilon) and/or oral pyridostigmine (minimum of five days) for myasthenia gravis if investigations have been normal or negative
Enteroviruses incl Poliomyelitis – fever, asymmetry of weakness, lack of sensory involvement, CSF findings and PCR from throat/stool
In endemic regions, tick bite paralysis closely resembles AIDP. Seasonal, affects young children predominantly. CSF protein is usually normal and the electrophysiological studies are consistent with a pre-synaptic defect at the neuromuscular junction rather than a peripheral neuropathy. The patient usually recovers rapidly after removal of the tick but full return of strength may take several weeks. Failure to detect the tick may result in the death of the patient.
The initial progressive phase lasts 10-30 days. If deterioration continues beyond four weeks, the diagnosis of GBS is pretty much excluded – suggests chronic inflammatory polyneuropathy (CIDP). In rapid, aggressive disease complete quadriplegia can develop in 2-5 days; apart from need for respiratory support, autonomic involvement can provoke life-threatening arrhythmias and hypertension. Aspiration pneumonia is another major risk.
Children should be admitted to PICU if they have:
flaccid tetraparesis
severe rapidly progressive course
reduced vital capacity at or below 20 ml/kg
bulbar palsy with symptoms
autonomic cardiovascular instability viz persistent hypertension or labile blood pressure, or arrhythmias.
Plasma exchange is gold standard. Surprisingly, steroids do not appear to have any benefit (cf CIDP), as they can sometimes make things worse or slow the recovery. Perhaps nerve damage at presentation is already programmed/complete? Or do they impair healing? IVIG 0.4g/kg for 5 days (started as soon as possible and ideally within first 2 weeks, although benefit may extend up to 4 weeks) is as effective as plasma exchange (in adults, Cochrane) and probably quicker as well as safer. The conventional dose of immunoglobulin is a total of 2 g/kg, over 3-5 days, whatever protocol that avoids waste best! In kids, 250 ml/kg plasma exchange or roughly a triple-volume exchange probably best.
For pain which is resistant to conventional analgesia, gabapentin and carbamazepine may be useful.
Mortality in childhood GBS is less than 5%. Deaths may be caused by ventilatory failure (rare now), cardiac arrhythmias, dysautonomia and pulmonary embolism. Full recovery within 3-12 months is experienced by 90-95% of children with GBS; that leaves 5-10% with permanent neuro deficits, but most of those tend to have only minor disability.
Subtypes
Miller-Fisher syndrome = ophthalmoplegia with ataxia & absent reflexes. GQ1b antibodies are highly sensitive and specific, found particularly in ocular motor nerves. Beware botulism and diphtheria, which also affect eyes!
“Architecture of medicine” a better metaphor than “art of medicine”, as it has a clear purpose?
So Brutalist medicine: where so intentionally functional that it erects its own barriers. Eg protocols, scoring systems, electronic records that become monuments to themselves. But you can perhaps defend Brutalism’s desire to avoid unnecessary adornments.
[Benjamin Mazer, Yale-New Haven school of medicine]
