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Fabry’s disease

Cardiology, General paediatrics, Neurology, Renal

Alpha-galactosidase defect, one of the lysosomal storage disorders, with accumulation in various tissues.

X-linked but females get disease, so not correct to call them carriers.

Classically, “pain attacks”, affecting the extremities. In the abdomen, can mimic appendicitis. Due to accumulation in nerves. Since nothing to really see on examination, easily misdiagnosed as functional.

Other features:

  • Renal impairment and failure.
  • Angiokeratomas – a more specific feature, but not always present, and seen in other lysosomal disorders.
  • Corneal changes
  • Cerebrovascular and cardiac problems

[Omim]

Campylobacter

Gastro, General paediatrics, Infectious disease

Common cause of bloody diarrhoea. As with other causes of bloody diarrhea, often associated with fever and abdominal cramps.

Usually self resolving within a week. Antibiotics help if symptoms severe enough.

Excretion continues for a number of weeks, although risk of spreading infection after diarrhoea has settled of course much less, assuming decent hygiene.

Chronic excretion can occur with continuous symptoms rarely, certainly in immunosuppressed patients. Asymptomatic carriers exist, although seems to be more common in developing countries (so malnutrition probably a factor) and reinfection can also occur, of course.

About 1 in 1000 cases develop Guillain Barre syndrome after the infection. Inflammatory bowel disease seems more common after campylobacter infection?

Liver Function Tests

Clinical, Common, General paediatrics

Bilirubin needs to be around 60 to see visible jaundice. Isolated high bilirubin could be haemolysis or Gilbert syndrome.

AST is less specific than ALT – also produced in kidney, brain etc. But perhaps changes more quickly than ALT. Most important other source of AST and ALT is muscle – so check CK too, especially if bilirubin normal. Myopathies, viral myositis, muscular dystrophy can all present with “abnormal LFTs”.

Gamma GT is also found in other tissues so not 100% specific but typically suggests cholestasis or other biliary problem (together with alkaline phosphatase).

Alkaline phosphatase also produced in bone, so look at calcium, phosphate and vitamin D as well as signs of rickets or renal disease. Most common cause of isolated high alkaline phosphatase is benign transient hyperphosphatasaemia. There is a rare inherited disease of bone/tooth mineralisation, hypophosphatasia, where levels of ALP are abnormally low;  more commonly though, goes high or low depending on current growth. Low ALP is associated with severe chronic illness, malnutrition, or EDTA/citrate contamination, magnesium/zinc deficiency, coeliac disease, oestrogen use and hypothyroidism.

Falling transaminases can be ominous in situation of bilirubin, albumin, coagulation deteriorating…

Asthma and Obesity

Common, General paediatrics, Respiratory

Obesity can mimic asthma, it affects respiratory symptoms and lung mechanics, but it can also overlap of course. Asthma is more often diagnosed in obese (misdiagnosed?). Maternal obesity (and gestational weight gain) in pregnancy. Each BMI increase of 1kg/m2 increases risk by 2-3%!

Obesity is one of the factors associated with fatal asthma attacks (but note socioeconomic confounding).

Weight reduction leads to improved lung function, health status, symptoms and morbidity in adults. Not yet proven in adolescents.

Slightly increased risk of acute asthma attacks in obese adults and school age children.

Osteogenesis imperfecta

General paediatrics, Orthopaedic

Recurrent fractures, often with minimal trauma, family history. Joint and bone pain can be an issue even without fractures.

No single test for osteogenesis imperfecta.  Clues might be deformities, short stature, hypermobility and poor dentition.

Type 1 is most mild, no deformities. Type 2 lethal in early life, antenatal scan may show chest wall abnormality and respiratory failure often at birth.

Type 3 is severe, with fractures in the womb or during birth. Short stature, deformities marked.

Type 4 variable, may only be diagnosed later in life. Type 5 associated with excessive callus formation.

Bisphosphonate infusions are used for the most severely affected. Otherwise, management revolves around:

  • Fracture and pain management
  • Aids eg wheelchairs
  • Physiotherapy, esp if immobile due to fractures

Epstein Barr virus

Common, General paediatrics, Infectious disease

One of the Herpes virus family, and like other herpesviruses (herpes, varicella) becomes latent in the body after infection, in the case of EBV in B-lymphocytes. Immune system has developed specific strategies over the course of human evolution to control it – hence specific immunodeficiencies such as Duncan’s syndrome where EBV appears to be the only infection that becomes problematic (even catastrophic).

Associated with a number of tumours, including non-Hodgkin’s lymphoma, Burkitt Lymphoma (especially in Africa), nasopharyngeal carcinoma.

In most children, a mild febrile illness, with lymphadenopathy (“glandular fever” or infectious mononucleosis), sore throat (can be severe). Failure to improve with antibiotics is a clue! Peak age for severe presentations is teenagers – “kissing disease” (sexually transmitted!? Edinburgh students study found lower rates if routine barrier methods used). Prolonged incubation period of 30-50 days!

Classically rash triggered by amoxicillin (which is why amoxicillin isn’t recommended for sore throats, but rash can be seen with penicillin too) – maculopapular, sometimes petechial and/or urticarial, which is rather more suggestive.

On examination, hepatosplenomegaly can be seen.

Diagnosis

Blood film characteristically shows atypical lymphocytosis. Monospot test (for “heterophile” antibodies, against horse blood cells, characteristic of EBV) only 70-90% sensitive, even worse under 4yrs of age. May also be negative if done too early. Also prone to false positives although this is rare (lymphoma, hepatitis).

Serology is a bit complicated – anti VCA (viral capsid antigen) IgM comes up first, IgG follows after 2-4 weeks then persists for life. Anti EA (early antigen) IgG is an unusual one which comes up quickly and then disappears after 3-6 months. EBNA (ENV nuclear antigen) only comes up after a few months. There are false negatives (usually because illness resolves before any antibodies appear) and false positives.

If important to know, do PCR.

Mild hepatitis and cholestasis pretty common. So can be confused with autoimmune hepatitis, especially since both can give positive IM tests.

Rarer features are dacrocystitis, pneumonia, myocarditis, low platelets and neutrophils, interstitial nephritis, encephalitis. Haemophagocytic syndrome. 20x higher risk of Guillain Barre syndrome after EBV.

Severe illness in boys suggests XLP.

Management

Supportive.

Splenic rupture after EBV has been reported but is very rare. Advice usually given to avoid contact sports. In ultrasound studies, peak spleen size is typically noted within the first 2 weeks of illness, but may extend to 3.5 weeks. The majority of spleen injuries occur within the first 21 days of illness and are exceedingly rare at >28 days, so one month avoidance probably sufficient.

A minority develop chronic fatigue type symptoms.

[Sports health 2014]

Anaemia

General paediatrics, Haem/Oncology, Nutrition

Like many things, low red cell count can be problem of production, loss or destruction.

So causes include:

  • Bone marrow failure or infiltration (leukaemia, Fanconi’s, Blackfan Diamond, erythrovirus/parvovirus)
  • Nose bleeds, gastrointestinal losses eg Meckel’s, gastritis, heavy periods
  • Haemolysis eg G6PD deficiency, hypersplenism, autoimmune
  • Iron, folate or B12 deficiency

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)
  • Renal function – haemolytic uraemic syndrome (usually with diarrhoea and bloody stools, but not always)

Iron is found in red meat, pulses, green leafy vegetables, wholemeal bread, nuts, dried fruit, fortified breakfast cereals.

Polycythaemia

General paediatrics, Haem/Oncology

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]

Hypertension

Cardiology, Endocrinology, General paediatrics, OPD, Renal

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.

Long list of causes, so follow the clues.

Family history important, of course.

Examination

So needs thorough history and examination, including:

  • Fundi
  • Bruits, radiofemoral delay
  • Neck for goitre

Complications

Consider then end organ effects –

  • Proteinuria, high creatinine
  • Retinopathy
  • Left ventricular hypertrophy, cardiac failure
  • Abnormal tone and reflexes, cranial nerve deficits if severe

Management

Depends on how high, whether other risk factors (diabetes, chronic kidney disease), symptoms and evidence of end organ damage.

Initially low salt diet, weight loss (if obese).  Remember other morbidities related to obesity.

Acute hypertension might need frusomide and/or nifedipine.

Long term treatment is only going to be started if no improvement with lifestyle measures. Target BP depends on risk factors, as above.

[2016 European Society for Hypertension guidelines]

Meningococcal disease

Emergency medicine, General paediatrics, Infectious disease

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.