All posts by admin

PFAPA

General paediatrics, Immunology, Infectious disease

=periodic fever, aphthous stomatitis, pharyngitis, adenitis.

Fever every 4-6 weeks (periodic). Neutrophil count normal, cf cyclical neutropenia.

Besides mouth ulcers, sore throat and cervical lymphadenopathy, headache, musty smell (!), abdo pain.

Affected children continue to grow normally, are well between attacks, and do not suffer long-term sequelae.

Treatment with steroids or with cimetidine has been effective, and some children have had no further attacks following tonsillectomy (which suggests some relationship with strep infection but not clear).

Cyclical neutropenia

General paediatrics, Haem/Oncology, Immunology

=elastase defect.

Regular pattern of fever (periodic), approximately three-weekly, perhaps associated with malaise, periodontitis, aphthous ulceration, impetigo, sore throat and enlarged lymph glands.

But by the time the child presents, the neutrophil count may have returned to normal (although unlikely to be high).

Check FBC twice weekly for 4-6 weeks to demonstrate the fluctuation of the neutrophil (and monocyte) count.

Important not to miss, as children can develop severe bacterial sepsis while neutropaenic (mortality rate of up to 10%).

Management

Need antimicrobial prophylaxis, and possibly GCSF.

Differential is PFAPA (periodic fever, aphthous stomatitis, pharyngitis, adenitis)



Periodic fever

General paediatrics, Immunology, Infectious disease
Infectious causes
Mycobacteria (TB and non-tuberculous disease)
Borrelia
Leptospira
Streptobacillus moniliformis (rat bite fever)
Hepatitis B
Orbivirus
Rickettsea (typhus)
Entamoeba histolytica
Others
Cyclical neutropoenia
PFAPA
Behcet’s
Hyper IgD (HIDS)
Familial Mediterranean fever
Familial Hibernian fever/TRAPS
Cryopyrin disorder

Periodic fevers are defined as uniform periods of fever that recur regularly in individuals who are healthy between attacks. Parents may organize life eg holidays around expected attacks and don’t have any concerns otherwise cf child with recurrent respiratory and gastrointestinal infections after starting nursery who “always has something”.

Recurrent bacterial infections esp recurrent/chronic pneumonia or otitis media may indicate a humoral immune defect. Similarly, recurrent documented viral or fungal infections may indicate a cell mediated immune defect.

Tick borne encephalitis

General paediatrics, Infectious disease

Arbovirus, spread by ticks, big problem in forested regions of Europe and vaccine available.

In Scotland, “Louping ill” is tick born encephalitis affecting sheep – v rarely humans too.

Since 2019, 3 cases of TBE in England (virus had been found in ticks in Southern England before), and recently 1 in Scotland. Patient had a dozen or so ticks that were only removed after a day.

Lyme disease is the other important tick borne infection.

Psoas abscess

General paediatrics, Surgical

Insidious, no specific signs/symptoms so often delayed diagnosis. Pain in region of lower back or hip, fever. Often 10+ days later that becomes more obvious.

Usually caused by haematogenous spread, but may be due to local suppuration.

Blood tests are not very helpful!  WCC/CRP/ESR non-specifically high.  CK is rarely raised!  Blood cultures often positive.

MRI is investigation of choice as ultrasound is only 60% sensitive.

Rx IV antibiotics for min 5/7 then complete 3-6/52 oral.  Large abscesses will require surgical drainage (open or ultrasound guided).  No reported sequelae but can be complicated by iliac thrombophlebitis followed by pulmonary emboli (akin to Lemierre’s disease).

Appendicitis

General paediatrics, Surgical

Classic history in less than 60% of cases! Retrocaecal in 15% so hip pain (psoas irritation), flank or right upper quadrant pain/symptoms. A deep appendix tip can give rectal pain especially on defaecation, plus diarrhoea, dysuria!

Under 6 with 48+hr symptoms are likely to have appendicitis.

Periumbilical pain due to T10 innervation, then localises to RIF as serosa involved. But can be suprapubic if appendix lies medially, or flank pain if lateral.

Vomiting at start unusual except retrocaecal, tends to start later.

Fever low grade or absent.

Under 5 can just present with diffuse pain and peritonitis as omentum under developed, so fails to contain. Higher risk of delayed diagnosis, perforation.

To check for psoas irritation, hyperextend hip (lie on side). For obturator, flex hip and internally rotate.

Speed bump sign good positive predictive sign!

Investigations

WCC/CRP poor sens/spec especially in first 24hrs.

USS – hyperechoic mesenteric fat, fluid collection, local dilated loop suspicious if appendix cannot be seen. 90-95% sens/spec.

Management

2020 World Society of Emergency Surgery Jerusalem guidelines.

Alvarado score or paediatric appendicitis score can be used to stratify risk, in conjunction with white cell count and CRP.

Low risk can be discharged with safety net advice. Otherwise, ultrasound recommended.

If uncomplicated and no appendicolith, medical treatment with antibiotics recommended after discussion of risks.

Eosinophilic oesophagitis

Gastro, General paediatrics

=EOE, but in the US EE.

In Danish study, incidence tripled between 2011 and 2018…

Boys predominate!  Young kids non specific (aversion, FTT, vomiting), older may have pain, food bolus impaction. 

70% atopic. Besides eosinophils histologically (>15/hpf), “cat scratch furrowing”, exudates, strictures on endoscopy (“trachealization”).

High dose omeprazole 2-3mg/kg (max 80mg) in split doses (before scope, 8/52).  Then Budesonide syrup (nebules broken open, mixed with linctus), nil orally for 30 mins after.  Some reports of adrenal insufficiency with this regimen.

Elemental diet? Usually Milk free effective, else 2-6 food elimination (80% effective – milk, egg, wheat, soya, nuts, fish).  4 weeks at a time. Re-introduce 1 food per 2/52.  Use SPT to guide, as often positive even if not aware of type 1 reactions! 

Most experience in infants is with amino acid formulas, not clear if extensively hydrolysed would be ok or not.

Generally symptoms recur at 5-6/7, if they are going to.   Not practical to repeat endoscopy after each food but symptoms can settle without microscopic remission.  Egg allergy can get worse with exclusion so shorter time or ignore?

[Diana Flynn]

Orbital cellulitis

General paediatrics, Infectious disease, Surgical

Potentially serious infection of the eye.

Chandler classification describes the potential sequence of events:

  • Preseptal (periorbital) cellulitis, in other words, anterior to the eye. Usually caused by skin organisms entering via superficial trauma
  • Orbital cellulitis – surrounding the eye
  • Subperiosteal orbital abscess – penetration into bone of orbit
  • Orbital abscess
  • Cavernous sinus thrombosis

In older children, more likely to start with sinusitis, then eroding through into orbit. Differentiating between these types is difficult without imaging.

Different organisms cf skin commensals of preseptal cellulitis eg Haemophilus, streptococci including pneumococcus, anaerobes.

Often no organism is obtained, which adds to the difficulty of giving evidence based guidance. Multiple bugs not uncommon. Hence a variety of different guidelines, generally of poor quality.

In a large US review of 220 children and young adults, 98% were investigated by CT. High rate of steroid use – previous studies have suggested better outcomes, but no obvious benefit in terms of treatment success here. Various antibiotic regimens, various durations. More treatment failures if treated for more than 3 weeks but these will be the most severe/complex cases.

Management

Jointly managed by ophthalmology, ENT and paediatrics. Ophthalmology are best at performing eye movement assessment, but it is ENT who tend to do any surgery (usually endoscopic sinus surgery).

Red flags:

  • Severe proptosis,
  • worsening visual acuity,
  • elevated intraocular pressure,
  • colour indiscrimination,
  • intracranial involvement,
  • inability to perform a reliable serial ophthalmologic examination,
  • poor response to a trial of intravenous antibiotics for 24 to 48 hours

These are indications for surgery.

The size of any subperiosteal abscess on CT is a new prognostic factor: diameter >10mm and volumes ≥500mm3 (although volume measurements not routinely reported) are thought typically to require immediate surgical intervention, with the remainder going to surgery only in the event of clinical deterioration, lack of clinical improvement after 48 hours of antibiotics, or worsening abscess on imaging.

Treatment duration – most people would agree to IV treatment until clear improvement, followed by oral antibiotics for a total of 14 days.

Hereditary haemorrhagic telangiectasia

Dermatology, General paediatrics, Genetics, Surgical

=Osler-Weber-Rendu disease. Autosomal dominant with high penetrance. 

Not a problem in early life.  Usually presents with recurrent nose bleeds.  Red spots on lips, tongue and fingertips, not so obvious in young children. But potential for GI and pulmonary haemorrhage, pulmonary/liver/brain AVMs.  Migraine common.

Iron deficiency a problem, of course!

Life expectancy normal if assessed and screened for pulmonary AVMs (check sats!?).

No restrictions on physical activity unless pulmonary AVM (scuba diving)

No coagulation disorder but antiplatelet and anticoagulant medicines should only be prescribed after weighing risks and benefits.

For refractory bleeding, bevacizumab or thalidomide (anti-angiogenic drugs) can be considered.

Screening for AVMs done from age 16 (refer neurosurgery for brain AVM screening). Annual full blood count.

Beware nasogastric interventions! (Put alert on hospital records)

European guidance at www.doi.org/10.1016/j.ejmg.2021.104370