Category Archives: General paediatrics

Familial Mediterranean Fever

General paediatrics, Immunology, Rheumatology

Short attacks of fever, usually lasting 1-3 days, recurring at varying intervals (periodic), cf Behcet’s.

Most children develop severe abdominal pain with the episodes, due to sterile peritonitis.

Pleuritis, leading to chest pain, arthritis, myalgia and skin rashes may also occur.

Most cases are from Arabic Turkish, Armenian or Jewish background. Inheritance is autosomal recessive. The gene has been cloned and four mutations have been identified.

Colchicine is the treatment of choice. Some patients may develop amyloidosis; certain mutations are at higher risk.



Behcet’s syndrome

General paediatrics, Genetics, Immunology

Recurrent fever and aphthous stomatitis, mostly. However, there is no regular periodicity of the symptoms, and episodes of fever may last for weeks.

Traditionally associated with Mediterranean or Eurasia but in UK mostly white Caucasian.

Other features –

  • arthritis,
  • genital ulcers,
  • iridocyclitis and optic neuritis, even blindness
  • skin rashes (classically erythema nodosum or pustulosis),
  • disabling vascular (thrombosis, superficial phlebitis) and central nervous system complications may occur.

BPSU study found 1 case every 2 weeks in the UK. Median age of onset was 6yrs – but diagnosis 11yrs!

Colchicine as regular preventive treatment, else immunosuppressive treatment. Topical steroids or short courses oral steroids.

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]