Category Archives: General paediatrics

Croup

Common, General paediatrics

Upper respiratory infection (“acute laryngotracheobronchitis”) of young children, typically parainfluenza but can be RSV, enterovirus etc.

Classically barking cough, like a seal, with stridor. Often worse on waking, then settles once the panic has passed.

Mild fever typical. Rarely lasts longer than 24 hours.

Severe will cause increasing respiratory distress, with decreasing volume of stridor until respiratory arrest ensues.

An oxygen requirement implies lower rather than upper airway involvement (so the wrong, or mixed, diagnosis), or impending respiratory arrest.

Management

Supportive, and hands off – upsetting the child will provoke worsening of symptoms.

Paracetamol/difflam spray for the throat.

Recurrent croup

Some kids are prone to recurrent croup. Often strong family history of croup. Smoking doesn’t appear to be a factor!  Appears to be same viruses. Tend to be children with reflux and/or atopy.  [Pediatrics International, 51: 661–665.] [Annals of Otology, Rhinology & Laryngology 2008;117(6):464-69

26% have microlaryngobronchscopy findings suggestive of reflux – a clinical history is not predictive.  91% responded well to anti-reflux treatment.  High rate of recurrence in group with negative findings!  Kubba Journal of Laryngology and Otology 2013;127(5):494-500

Airway abnormalities eg tracheomalacia are common in children with recurrent croup and cannot be ruled out based on history (although biphasic stridor is highly suggestive). Having said that, most of the airway abnormalities will have a history of previous intubation, or are younger than 1 year, or are seen while inpatients, which all suggest pretty severe episodes. [Otolaryngology-Head and Neck Surgery 2011;144(4):596-601]

Foreign bodies, respiratory papillomatosis, double aortic arch reported. 

Benign neonatal sleep myoclonus

Clinical, Common, General paediatrics, Neurology, OPD

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.

[https://doi.org/10.1093/pch/13.8.680]

Legal Highs

Emergency medicine, General paediatrics

Legal highs now illegal! 

=“New psychoactive substances” – no penalty for possession. Generally multiple substances taken simultaneously. Previously sold as herbal incense or “bath salts”. Now online “party pills” etc. Packaging can remain the same but product changed. Mostly from China. 

Drug deaths in Scotland 3x higher than in UK as a whole, and higher than any other EU country. Since NPS are unidentifiable and typically multiple substances taken, it is hard to attribute specific deaths. 72% male. Synthetic Cannabinoids, cathinones (stimulant), phenethylamines (hallucinogenic), benzodiazepines. Can be smoked or ingested.

Toxbase has nicknames, but examples are Black mamba, Exodus, Damnation. 

Cannabinoids can cause tachycardia, long QT and hypokalaemia. For agitation avoid medication if possible else midazolam. Generally 6 hour effect. 

Cathinones snorted or injected as well. Euphoria, intense positive emotion. Dyspnoea, palpitations. Narrow complex arrhythmia. Trismus. Acidosis. Hyperpyrexia. Effects up to 24 hours. Check CK, coagulation, LFTs. 

To treat acidosis, treat everything else! Then phone Toxbase!

Phenylethylamines stimulant as above plus hallucinations. Coronary ischaemia, organ failure. 

Synthetic benzodiazepines tend to have pseudoscientific names. Flumazenil not used as risk of other drugs emerging to cause seizures etc. 

See Serotonin toxicity syndrome for hyperpyrexia, increased muscular activity, autonomic instability.

ALTE/BRUE

Clinical, General paediatrics

BRUE (Brief Resolved Unexplained Event) from AAP 2016, replacing ALTE (apparent life threatening event).  “Life threatening” is unnecessarily anxiety provoking – and subjective for parents. 

“Brief” is by definition less than 1 minute, but typically 20-30 seconds. Only intended for babies under 1yr.

Guidance for “low risk”:

  • >60 days of age
  • >=32/40 gestation or CGA>=45 weeks
  • No CPR by trained practitioner
  • <1min duration
  • First event
  • No concerning features on history/examination

If low risk criteria fulfilled, no investigations are required – consider gas and urinalysis if clinical concern.

Otherwise depends on history and examination. Consider:

  • Bloods including glucose, gas
  • NPA for bugs
  • ECG

Management could then be a period of observation, or discharge home with safety netting.

AAP advises against home cardiorespiratory monitoring given costs and false alarms vs uncertain benefit.

A US study looking at this guidance found that

  • a serious diagnosis was made in 4.0% of cases; about half the time, the diagnosis was made at the time, but the rest of the time only afterwards.
  • The most common serious diagnoses were seizures and airway abnormalities.
  • The chances of finding a serious diagnosis was higher where there was a history of a similar event (obviously), an event duration >1 minute, an “abnormal” medical history (previous hospitalisation, underlying medical problem), and altered responsiveness as a feature of the event. [Peds 2021]

But I’m disappointed there is no mention in the RHC guidance about SIDS prevention advice.

Adverse Childhood Experience

Child protection, General paediatrics, Nutrition, Psychology, Sociology

Associated with range of negative outcomes.

Later lifestyle

Adverse childhood experiences increase probability of smoking in adulthood. Physical harm in Eastern European countries increases the probability of heavy drinking by about 3.4%, but not in other regions. Exposure to child neglect (little understanding) increases the probability of alcohol abuse by 2.7% in Nordic Countries but not other macro-regions. The experience of a poor relationship with parents is a strong predictor of alcohol abuse for the female subsample in Latin countries (2% higher).

While ACE does not appear to have a substantial effect on excess weight in any macro-region, childhood trauma (physical harm) appears to have a major impact on the likelihood of being obese later in life. Obesity has a more obvious impact on chronic illness than poverty, smoking or alcohol.

Muckle-Wells Syndrome

General paediatrics, Genetics, Immunology

A Cryopyrin disorder, found in Northern Europeans. Cryopyrin triggers an IL-1 dominated inflammatory response, and is coded for by the Cold-Induced Autoinflammatory Syndrome 1 (CIAS1) gene, also known as the NLRP3, NALP3 or PYPAF1 gene.

Attacks of periodic fever are very brief eg 1-2 days – apart from fever, an urticarial rash is sometimes seen, limb pain/arthralgia occurs. Abdominal pain and arthritis occur rarely. Sensorineural hearing loss is characteristic.

Amyloidosis affects 25%, which is high cf other periodic syndromes.

Diagnosis is by genetics.

Steroids are often used but benefit is inconsistent; interleukin 1 (IL-1) receptor antagonist Anakinra shows promise.

Familial cold autoinflammatory syndrome (FCAS) is a similar condition, also related to Cryopyrins. Cold induced obviously, but without the deafness, and amyloidosis is rare.

NOMID/CINCA are also related – the names say it all: Neonatal onset multisystem inflammatory disorder, and chronic infantile neurological cutaneous and articular syndrome. Papilloedema and uveitis potentially leading to blindness occur; there is epiphyseal bone formation; hepatosplenomegaly; and a chronic meningitis with deafness. There is no known treatment, sadly.



Hyper IgD Syndrome (HIDS)

General paediatrics, Immunology

Mostly Dutch and French. Not to be confused with Hyper IgE syndrome or Hyper IgM syndrome. Big database in Nijmegen. A genetic syndrome (autosomal recessive, explained by MVK (mevalonate kinase) gene mutations on chromosome 12p – see Omim) with recurrent febrile attacks starting under 1yr of age.

Attacks last 3-7 days, so may or may not be shorter than TRAPS, occur every 4-8 weeks. Features are:

  • Abdo pain, vomiting and diarrhoea (cf constipation of TRAPS)
  • Headache, arthralgia
  • Swollen cervical lymph nodes – v common, cf TRAPS
  • Splenomegaly
  • Non-destructive arthritis

Diagnosis is by finding of high IgD (>100U/ml); most also have high IgA (with or without raised IgG and IgM), which is an important clue.

Increased Mevalonic acid in urine during fever.

Febrile attacks in response to immunizations often reported, so may be another clue.

Attacks tend to diminish with age without completely disappearing; amyloidosis seems to occur only rarely (cf TRAPS). Simvastatin is supposed to help!



Familial Hibernian fever/TRAPS

General paediatrics, Immunology

First described in a family of Irish descent, hence “Hibernian”, now called TRAPS (TNF receptor assoc periodic syndrome), and now described in a wide range of different ethnicities.

Various mutations of TNF-Receptor Super Family 1A (TNFSF1A) seen, on chromosome 12p (same as HIDS but different gene). These mutations are dominant and penetrate poorly, with only a small proportion developing disease.

Onset is typically around 3yrs of age but varies widely. Periodicity also varies widely: typically every 5-6 weeks. Fever for 3 days heralds onset of other symptoms, which then last for usually 5 days or more (cf Familial Mediterranean Fever):

  • centrifugal migratory erythematous rash, often starting as a patch overlying an area of myalgia, but lots of variation
  • Myalgia – quite striking cf HIDS, uniquely can involve face and neck. CK etc are normal, so due to fasciitis not myositis.
  • Arthralgia – but arthritis uncommon, and non-destructive.
  • Abdo pain is extremely common, often with constipation but may progress to bowel obstruction. Many patients have a history of bowel surgery.
  • Eye involvement is characteristic – conjunctivitis, periorbital oedema; uveitis has been described rarely. cf Behcet’s
  • Pleuritis can occur, but chest pain is more usually musculoskeletal.
  • Lymphadenopathy is rarely very prominent, cf HIDS.

About 14% develop amyloidosis.

Diagnosis is mainly clinical. Must have at least 6/12 history of recurrent inflammatory symptoms, with at least one of the above features, episodes must last at least 5/7 on average (even if variable), with response to steroids but not colchicine. Other affected family members will obviously increase your suspicion. Ethnic group does not seem to have any bearing.

Steroids reduce severity but not frequency of attacks. NSAIDS help fever. Etanercept appears to prevent; colchicine does not (hence one of the diagnostic criteria above!). 

[Medicine 2002;81(5):349-68 PMID 12352631]