CHILD'S HEALTH 2 - Derm, Infect. Disease, Neuro, Psych, Endo, Onc Flashcards
Outline the pathophysiology of Eczema.
- Filaggrin breaks down to form amino acid pool (used for skin barrier)
- Loss of function mutations in filaggrin gene predispose to breaks in epidermal barrier
So increased exposure and sensitisation to cutaneous antigens, increased eczema risk
Tiny gaps in the skin barrier provide an entrance for irritants, microbes and allergens that create an immune response, resulting in inflammation and the associated symptoms.
Outline the clinical features of eczema
itching (pruritus) is the main symptom, -> results in scratching and exacerbation of the rash
The excoriated areas become erythematous, weeping, and crusted.
Outline some of the treatment options for eczema
The key to maintenance is to create an artificial barrier over the skin to compensate for the defective skin barrier.
This is done using emollients that are as thick and greasy as tolerated, used as often as possible, particularly after washing and before bed.
Flares can be treated with thicker emollients, topical steroids, “wet wraps” (covering affected areas in a thick emollient and applying a wrap to keep moisture locked in overnight) and treating any complications such as bacterial or viral infections.
Give examples of the some of the topical treatments used in eczema
Thin creams:
E45
Diprobase cream
Thick, greasy emollients:
50:50 ointment (50% liquid paraffin)
Hydromol ointment
Diprobase ointment
Steroids - Thicker the skin, stronger the steroid - avoid steroids around eyes face and genitals in children
Mild: Hydrocortisone 0.5%, 1% and 2.5%
Moderate: Eumovate (clobetasone butyrate 0.05%)
Potent: Betnovate (betamethasone 0.1%)
What pathogens can cause skin infections in eczema?
Bacterial - staphylococcus aureus. Treat with flucloxacillin.
Viral - herpes simplex virus (HSV) or varicella zoster virus (VZV). - treat with aciclovir.
What is the presentation of Eczema Herpeticum? (a viral skin infection caused by the herpes simplex virus (HSV) or varicella zoster virus (VZV).
A typical presentation is a patient who suffers with eczema that has developed a widespread, painful, vesicular (sometimes itchy) rash with systemic symptoms such as fever, lethargy, irritability and reduced oral intake.
Pus vesicles can burst leaving punched out ulcers
There will usually be lymphadenopathy (swollen lymph nodes).
What is Stevens-Johnson syndrome? Outline the differentiation between SJS and Toxic Epidermal Necrolysis.
Stevens-Johnson syndrome (SJS) is a Type IV hypersensitivity reaction leads to disproportional immune response causes epidermal necrosis, resulting in blistering and shedding of the top layer of skin
SJS and TEN are a spectrum of the same pathology - Generally, SJS affects less that 10% of body surface area whereas TEN affects more than 10% of body surface area.
name some causes of Stevens-Johnson syndrome
Medications
Anti-epileptics - Carbamazeapine, lamotrigine, Phenytoin
Antibiotics - Penicillins, Ciprofloxacin
Allopurinol
NSAIDs like iburbpfoen
Infections
Herpes simplex
Mycoplasma pneumonia
Cytomegalovirus
HIV
Outline the presentation of SJS.
Starts of non specific - fever, cough, sore throat, sore eyes and itchy skin
develop purple or red rash, that will blister after a few days —-> skin then breaks away and leaves raw tissue underneath
can also happen to the lips and mucous membranes. Eyes can become inflamed and ulcerated. Can affected urinary tract and lungs
Outline the management of SJS
Get to a suitable derm or burns unit!
Good supportive care is essential, including nutritional care, antiseptics, analgesia, and ophthalmology input.
Treatment options include steroids, immunoglobulins and immunosuppressants
What is allergic rhinitis? Name some triggers for it
(Seasonal rhinitis = hayfever)
caused by an IgE-mediated type 1 hypersensitivity reaction. Environmental allergens cause an allergic inflammatory response in the nasal mucosa
Triggers
Tree pollen or grass allergy leads to seasonal symptoms (hay fever)
House dust mites and pets
Mould
What is the management for allergic rhinits?
Avoid the trigger
Oral antihistamines are taken prior to exposure to reduce allergic symptoms:
Non-sedating antihistamines include cetirizine, loratadine and fexofenadine
Sedating antihistamines include chlorphenamine (Piriton) and promethazine
Nasal corticosteroid sprays such as fluticasone and mometasone
What is urticaria? What is it often seen with and why does it happen?
hives. They are small itchy lumps that appear on the skin.
They may be associated with angioedema (swelling of the deeper layers of the skin, caused by a build-up of fluid.) and flushing of the skin
Urticaria are caused the release of histamine and other pro-inflammatory chemicals by mast cells in the skin.
Name some causes of acute urticaria.
Acute urticaria is typically triggered by something that stimulates the mast cells to release histamine. This may be:
Allergies to food, medications or animals
Contact with chemicals, latex or stinging nettles
Medications
Viral infections
Insect bites
Dermatographism (rubbing of the skin)
Name some causes of chronic urticaria.
Chronic inducible urticaria describes episodes of chronic urticaria that can be induced by certain triggers, such as:
Sunlight
Temperature change
Exercise
Strong emotions
Hot or cold weather
Can also be caused by autoimmune conditions eg Lupus
What is the management of urticaria?
Antihistamines are the main treatment for urticaria. Fexofenadine is usually the antihistamine of choice for chronic urticaria. Oral steroids may be considered as a short course for severe flares.
In very problematic cases referral to a specialist may be required to consider treatment with:
Anti-leukotrienes such as montelukast
Omalizumab, which targets IgE
What is the blood test to confirm anaphylaxis?
SERUM MAST CELL TRYPTASE:
Most specific reading for most cell degranulation
Define anaphylaxis
Anaphylaxis a severe, life-threatening, generalised or systemic hypersensitivity reaction. It is characterised by rapidly developing life-threatening airway and/or breathing and/or circulation problems usually associated with skin and mucosal changes
What are some signs/symptoms of anaphylaxis?
o Occurs within minutes and lasts 1-2 hours
o Vasodilation
o Increased vascular permeability
o Bronchoconstriction
o Urticaria (hives)
Tachycardia, Hypotension
Outline what happens in anaphylaxis when a patients primed Mast cells are exposed to the allergen
o The cross-linking of IgE on the cell surfaces causes rapid (mast cell) cellular degranulation and liberation of a number of chemical mediators.
The mediators released by mast cell degranulation include the preformed molecules histamine, protease enzymes, proteoglycans and chemotactic factors.
o Reaction of antigen with IgE on mast cells also stimulates synthesis and release of platelet activating factor (PAF), leukotrienes and prostaglandins.
What are some of the physiological responses to anaphylaxis?
▪ Smooth muscle spasm in the respiratory and GI tracts
▪ Vasodilation
▪ Increased vascular permeability
▪ Stimulation of sensory nerve endings
▪ Increased mucous secretion and bronchial smooth muscle tone, as well as airway oedema
▪ Cardiovascular effects result from decreased vascular tone and capillary leakage. Hypotension, cardiac arrhythmias Tacycardia, syncope and shock can result from intravascular volume loss
What is the Treatment for anaphylactic shock?
ABCDE assessment
IM Adrenaline (1:1000) - (If ineffective then give second IM 1:1000mg Adrenaline Dose as adrenaline has very short half life)
Then
Chlorphenamine - Anti-histamine (H1)
Hydrocortisone - Steroid
What is Kawasaki disease? Who does it most commonly affect?
A systemic vasculitis that affects children.]
It affects young children, typically under 5 years. There is no clear cause or trigger. It is more common in Asian children, particularly Japanese and Korean children. It is also more common in boys
What are some Clinical features of Kawasaki disease?
>5 days fever. - Paracetamol doesn't help And 4/5 of the following: - Conjunctivitis. - Cracked lips/strawberry tongue. - Cervical lymphadenopathy. - Rash - widespread erythematous maculopapular rash - Swollen and red extremities.
TOM TIP: If you come across a child with a fever persisting for more than 5 days, think of Kawasaki disease! A rash, strawberry tongue, lymphadenopathy and conjunctivitis will seal the diagnosis in your exams.
What are some conditions that have similar presenations to Kawasaki disease?
Scarlett fever
Malignancy
Measles
Toxic shock
SJS
What might you see on the blood results in a patient with Kawasaki disease?
High CRP/WCC/ESR. - particulary ESR
Full blood count can show anaemia, leukocytosis and thrombocytosis
Liver function tests can show hypoalbuminemia and elevated liver enzymes
Urinalysis can show raised white blood cells without infection
Echocardiogram can demonstrate coronary artery pathology
High platelet count.
Outline the disease course of Kawaski disease
Acute phase: The child is most unwell with the fever, rash and lymphadenopathy. This lasts 1 – 2 weeks.
Subacute phase: The acute symptoms settle, the desquamation and arthralgia occur and there is a risk of coronary artery aneurysms forming. This lasts 2 – 4 weeks.
Convalescent stage: The remaining symptoms settle, the blood tests slowly return to normal and the coronary aneurysms may regress. This last 2 – 4 weeks.
Do echo when they first come in, and 6 weeks onwards
Describe the treatment for Kawasaki disease.
High dose aspirin to reduce the risk of thrombosis
IV immunoglobulins to reduce the risk of coronary artery aneurysms
follow up with echocardiograms to monitor for evidence of coronary artery aneurysms.
Why do you give high dose aspirin to children with Kawasaki disease?
To prevent thrombosis.
These children have thrombocytosis and so are at risk of thrombosis.
TOM TIP: Kawasaki disease is one of the few scenarios where aspirin is used in children. Aspirin is usually avoided due to the risk of Reye’s syndrome. This is a unique fact that examiners like to test.
Give a potential complication that may develop in children with Kawasaki disease.
Coronary artery aneurysm.
How would you manage a child whom you suspect is a victim of child abuse?
- Thorough history - ensure good documentation, are there any discrepancies?
- Examination - use body charts.
- FBC, clotting, swabs, bone profile, skeletal survey.
- Social services assessment +/- police input.
What is measles, and how is it spread?
What are some complications of measles?
Measles is an acute illness caused by morbillivirus,
Transmitted by respiratory droplets. Incubation
10–18d. Highly contagious:
Complications
otitis media: the most common complication
pneumonia: the most common cause of death
encephalitis: typically occurs 1-2 weeks following the onset of the illness)
What is the presentation of measles?
higher grade fever,
conjunctivitis, coryza, diarrhea, Koplik spots (white spots on the red buccal mucosa, like small grains of sand)
mEAsles - starts behind the EAr
Then generalized, maculopapular rash, classically face/neck->trunk->limbs
passmed - rubELLA - Ella has a beautiful face - spreads from the face
What is the treatment for measles?
Who needs to be notified?
Supportive. Isolate children in hospital. In immunocompromised patients, antiviral drug ribavirin can be used.
Vitamin A, which may modulate the immune
response should be given in low-income countries.
Prevention by immunization is the most successful
strategy for reducing the morbidity and mortality of
measles.
Local Health Protection Team need to be notified, not PHE!
What is chicken pox? How does it spread?
Its the primary infection of the varicella zoster virus - in children
– It is spread via the airways and the rash develops 4 days post infection
What are the symptoms and signs of chicken pox
Symptoms:
– Prodrome of high temperature
Widespread, erythematous, raised, vesicular , blistering lesions.
Eventually the lesions scab over, at which point they have stopped being contagious. The rash usually starts on the trunk or face and spreads outwards affecting the whole body.
– Can lead to secondary bacterial infection of the vesicles
What are the treatments for chicken pox?
Whats a severe complication of chicken pox?
What are the rules for returning to school?
Acute illness with symptoms: Treat with IV acyclovir.
Post-exposure or very early intervention: Consider VZIG, especially if given shortly after exposure but before symptoms develop.
keep cool, trim nails, calamine lotion
immunocompromised patients and newborns should receive varicella zoster immunoglobulin (VZIG).
Do not use NSAIDs ↑ risk of secondary bacterial infection.
Chickenpox school exclusion - until all the lesions are dry and have crusted over (usually about 5 days after the onset of the rash)
Chickenpox is a risk factor for invasive group A streptococcal soft tissue infections such as necrotizing fasciitis
What is shingles? How does it present?
Shingles is uncommon in children. It is caused by
reactivation of latent VZV, causing a vesicular eruption
in the dermatomal distribution of sensory nerves.
It occurs most commonly in the thoracic region, although any dermatome can be affected (Fig. 15.15).
How should you treat shingles? Is it contagious?
Oral aciclovir 1st line
You can’t give shingles to other people. But, other people can catch chickenpox from people with shingles if they haven’t had it before.
What should pregnant women do if they get chicken pox in pregnancy?
Non immune pregnant mothers need to receive varicella zoster IG injection to prevent congenital varicella syndrome. If mum develops chickenpox she will also be treated with aciclovir.
What is Rubella? How is it spread and when is it common?
It is a mild disease in childhood caused by the rubella virus. More common in winter and spring, it is spread by the respiratory route, frequently from a known contact.
The prodrome is usually mild with a low-grade fever or none at all.
What are the signs of a Rubella infection? How is it treated?
The maculopapular rash is often the first sign of infection, appearing initially on the face and then spreading centrifugally to cover the whole body. It fades in 3 days to 5 days.
Lymphadenopathy, particularly the suboccipital and
postauricular nodes, is prominent.
May have low grade fever
There is no effective antiviral treatment, so immunisation is key
When can Rubella be dangerous?
Can lead to Congenital rubella syndrome = caused by maternal infection with the rubella virus during the first 20 weeks of pregnancy.
The risk is highest before ten weeks gestation.
Women planning to get pregnant should ensure they have had the MMR vaccine.
Pregnant women should not receive the MMR vaccination, as this is a live vaccine. Non-immune women should be offered the vaccine after giving birth.
What can congenital rubella syndrome do to a foetus? When is it most dangerous?
Sensorineural deafness (58% of patients)
Eye abnormalities—especially retinopathy, cataract, glaucoma, and microphthalmia (43% of patients)
Congenital heart disease—especially pulmonary artery stenosis and patent ductus arteriosus (50% of patients)
If infection occurs 0–11 weeks after conception, the infant has a 90% risk of being affected
Heart, Ears and Eyes!
What is the presentation of a diptheria infection? What can it be similar to
Usually mild.
Smptoms often develop gradually, beginning with a sore throat and fever.
In severe cases, a grey or white patch develops in the throat, which can block the airway, and create a barking cough similar to what is observed in croup.
May involve lymph node swelling, and can involve skin, eyes and genitals
What is the cause of scalded skin sydrome? How do you treat it?
S. aureus bacteria that produces exfoliative toxins. Toxins are proteases that breakdown the proteins that hold skin cells together.
IV antibiotics (Flucoxacillin)
Topical therapy fusidic acid
Fluid and electrolyte management (consider burns unit)
Analgesia with paracetmol
What is the presentation of scalded skin syndrome?
A child, < 5 years old presents with a sore throat, fever, widespread peeling, erythematous rash.
Nikolsky’s sign – separation of the skin on gentle pressure.
How long can a child return to school after
Scarlet fever
Measles
D and V
Scarlett fever - 24 hours after starting antibiotics
4 days from onset of rash - Measles
Until symptoms have settled for 48 hours - D and V
How long can a child return to school after
Whooping cough
rubella
48 hours after commecing atnbx - whooping couhg
5 days from onset of rash - rubella
What is Roseola infantum? what do you see in it
Roseola infantum (occasionally called sixth disease) is a common disease of infancy caused by the human herpes virus 6 (HHV6).
A coryzal illness with associated high fever that resolves and is followed 1-2 weeks later by an erythematous rash across the trunk and limbs is a classical history of roseola infantum.
The fever is typically rapid onset and can often predispose to febrile convulsions.
normally mild
What is Whooping Cough? What causes the Whooooooooooooop?
Upper respiratory tract infection caused by Bordetella pertussis
(Gram negative aerobic coccobacillus)
The bacteria release toxins in the trachea that stop cilia beating and clearing airways, so the only way to clear debris in lungs to cough loads, ‘whooping’ to inhale inbetween coughing fit
What are the stages of whooping cough presentation?
Catarrhal stage (1-2 weeks):
- Dry, unproductive cough
- Low-grade fever
- Conjunctivitis
- Coryzal symptoms
Paroxysmal stage (1-6 weeks):
- Coughing fits: typically consist of a short expiratory burst followed by an inspiratory gasp, causing the ‘whoop’ sound - Whoop sound caused sharp inhalation of breath during coughing bout
- Post-tussive vomiting
Convalescent stage (lasts up to 6 months):
Gradual improvement in symptoms
What are the investigations of Whooping cough?
Nasopharyngeal swab/aspirate:
Culture/PCR
Anti-pertussis toxin immunoglobulin G (IgG) serology
What is the treatment for Whooping cough?
Notify PHE
Hospital admission if severe
Antibiotics: if Cough Sx is within 21 days
Macrolids - Clarithromycin, Azithromycin
School work absence: highly contagious
Antimicrobial therapy should not routinely be offered to patients after 21 days from onset of cough as by this time the duration of symptoms is unlikely to be reduced.
can return to school 48 hours after antibiotics given
What is Polio? What are some symptoms of it?
Where is it endemic?
Polio is the common name of poliomyelitis, an acute clinical disease caused by a poliovirus.
Remains endemic in Afghanistan and Pakistan (2016).12
Presentation: Incubation 7–10d. Flu-like prodrome in ~25%. Pre-paralytic stage: fever, increased HR, headache, vomiting, neck stiffness,
tremor, limb pain. ~1 in 200 progress to paralytic stage: LMN/bulbar signs ± respiratory failure
What is the morphology of M. TB?
Acid Fast Rod Bacilli
Non motile + non spore forming
Acid fast staining (Zeihl-Neelsen stain.) - Stains red
Doesn’t take up gram stain due to Mycolic acid capsule
Resistant to phagocytic killing.
Slow growing (15-20 hrs)
How does TB lead to the formation of Ghon complexes? (Primary/active TB)
Macrophages struggle to clear TB due to its waxy mycolic acid capsule.
Instead of being broken down and cleared, A focal caseating granuloma typically forms in the lower lobe known as a Ghon focus.
The Ghon focus can then spread to the Hilar Lymph nodes in the lungs, which together form a ghon complex
These ghon complexes can under go fibrosis and calcification, leading to the appearance of ranke complexes on xray
What is latent TB?
- occurs after primary infection, immune system encapsulates sites of infection and stop the progression of the disease.
- Patients remain asymptomatic and the bacteria remains dormant, resulting innegative sputumcultures but apositive Mantoux test.
- These patients arenotinfectious.
- However, if patients areimmunocompromised, the disease can progress or reactivate at a later stage to becomeactive TB.
Outline what happen in secondary TB.
Where in the lung is it most likely to happen and why?
Immunocompromised patients may develop secondary TB when latent TB reactivates
- Patients are infectious.
- Reactivation typically occurs in thelung apexwhere pO2is highest, as mycobacteria are aerobic.
bacteria can spread locally, to form caseating granulomata, or systemically (miliary TB).
Outline what Miliary TB is, and what happens in it.
Miliary TB - Where immune system cannot control the infection and it becomes disseminated
Extrapulmonary TB - where TB infects other areas
What are some general symptoms of active TB?
he clinical features of active TB are often
nonspecific, such as prolonged fever, malaise, anorexia, weight loss, or focal signs of infection (e.g. lymph node swelling in TB lymphadenitis).
What are some screening Tests for TB/diagnosis of latent TB?
Latent Disease - Mantoux Test/tuberculin skin test - can be positive if have had BCG
Interferon Gamma release assay
what would DisseminatedMiliary TB look like on chest xray
Patchy Consolidation
Ghon Complex
Granulomatous Lesions
Hilar Lymphadenopathy - (enlargement)
Pleural Effusion
What is the management of latent TB?
Doesnt necessarily need Tx
If risk of reactivation then:
6 months of isoniazid with pyridoxine
or
3 months of isoniazid, pyridoxine and rifampicin
What is the Treatment for Active TB?
RIPE: Combination Abx for 6-12 months
R – Rifampicin for 6 months
I – Isoniazid for 6 months
P – Pyrazinamide for first 2 months
E – Ethambutol for first 2 months
Pyra zina mide
Etham but ol
Side effects of TB medication - Give some side effects of
Rifampicin
Haematuria
Side effects of TB medication - Give some side effects of Isoniazid
What disease can it also trigger?
Peripheral Neuropahty,
Can also be a trigger for SLE
Side effects of TB medication - Give some side effects of Pyrazinamide
Hepatitis, Also gout, and joint pain
Side effects of TB medication - Give some side effects of Ethambutol
– Eye problems e.g. uveitis
How long should you give each of the TB medications for?
Note RI = 2 months, PE = 6 months
Outline basic pathophysiogy of HIV
The virus enters and destroys the CD4 T helper cells.
Uses reverse transcriptase enzyme to transcribe a piece of complimentary proviral DNA, to make a double strand with the original RNA strand.
This double stranded DNA then pops itself into the DNA of the cell (via integrase enzyme.) , ready to be transcribed into another virus cell, when the old immune cell becomes activated and starts trying to transcribe proteins for the immune response. (sneaky)
How can HIV be spread to children?
Sexual abuse/unprotected sex
Mother to child at any stage of pregnancy, birth or breastfeeding. This is referred to as vertical transmission.
Mucous membrane, blood or open wound exposure to infected blood or bodily fluids. This could be through sharing needles, needle-stick injuries or blood splashed in an eye.
How is the mode of delivery for giving birth determined for mothers with HIV?
Mode of delivery will be determined by the mother viral load:
Normal vaginal delivery is recommended for women with a viral load < 50 copies / ml
Caesarean sections are considered in patients with > 50 copies copies / ml and in all women with > 400 copies / ml
IV zidovudine should be given during the caesarean if the viral load is unknown or there are > 10000 copies / ml
Outline the prophyaltic treatment for babies at risk of HIV. Can HIV postive mothers breastfeed?
Prophylaxis treatment may be given to the baby depending on the mothers viral load:
Low risk babies, where mums viral load is < 50 copies per ml, should be given zidovudine for 4 weeks
High risk babies, where mums viral load is > 50 copies / ml, should be given zidovudine, lamivudine and nevirapine for 4 weeks
No - HIV can be transmitted during breastfeeding, even if the mother’s viral load is undetectable. Breastfeeding is never recommended for mothers with HIV
When should you test in children to HIV postive parents
Twice:
HIV viral load test at 3 months. If this is negative, the child has not contracted HIV during birth and will not develop HIV unless they have further exposure.
HIV antibody test at 24 months. This is to assess whether they have contracted HIV since their 3 month viral load, for example through breast feeding. If the 3 month test is negative and they are not breastfed, this should be negative.
Note that the antibody test can be positive in infants who do not have HIV for up to 18 months of age. This is due to maternal antibodies that have crossed the placenta during pregnancy.
What is the treatment for pediatric HIV?
Antiretroviral therapy (ART) to suppress the HIV infection
Normal childhood vaccines, avoiding or delaying live vaccines if severely immunosuppressed.
Prophylactic co-trimoxazole (Septrin) for children with low CD4 counts, to protect against pneumocystis jirovecii pneumonia (PCP)
Treatment of opportunistic infections
The aim of antiretroviral therapy (ART) is to achieve a normal CD4 count and undetectable viral load
What are the most common bacterial causes of meningitis in neonates?
Escherichia coli
Group B Streptococcus (Streptococcus agalactiae)
Listeria monocytogenes
only group where both Streptococcus Pneumoniae or Neisseria Meningitidis aren’t in the most common top 3
What are the most common bacterial causes of meningitis in infants
Neisseria meningitidis
Haemophilus influenzae (but less common now due to vaccination)
Streptococcus pneumoniae
if in doubt, just say Streptococcus Pneumoniae or Neisseria Meningitidis)
What are the most common bacterial causes of meningitis in young adults
Neisseria meningitidis
Streptococcus pneumoniae
if in doubt, just say Streptococcus Pneumoniae or Neisseria Meningitidis)
What are some signs of Meningitis?
- Kernig’s sign: extension of the knee when hip is flexed at 90 degrees causes neck pain
- Brudzinski sign: severe neck stiffness causes the hips and knees to flex when the neck is flexed
- Petechial or purpuric non-blanching rash: associated with meningococcal disease (N. meningitidis)
- Pyrexia
- Reduced GCS
What are some symptoms of meningitis?
FEVER
HEADACHE
NECK STIFFNESS – ‘MENINGISM’
Might not be able to touch chin to neck
Purpuric rash – only in BACTERIAL meningitis
Non-blanching plupurent rash = meningococcal septicaemia (meningitis caused by N. Menigitidis)
Photophobia and/or phonophobia
Papilloedema – swelling of optic disc on fundoscopy
Usually bilateral
What investigations do you do for meningitis?
INVESTIGATIONS AND TREATMENT SHOULD BE DONE IN PARALLEL
Treat first, investigate later – give IM benzylpenicillin
Assess GCS - if <8 then can’t maintain their own airway, 🡪 intubate
Blood cultures – BEFORE ANTIBIOTICS!!
Lumbar puncture - to obtain CSF - Diagnostic
Head CT – to exclude lesions e.g. tumour
Blood – blood cultures and PCR for S. pneumoniae and N. meningitidis.
Nose and throat swabs – are plated out onto blood and chocolate agar.
Stool – stool PCR can be used to detect enterovirus.
Serology – blood (to detect a convalescent rise in antibody).
When do NICE recommend a lumbar punture as pasrt of the investigations for all children, under
a) 1 month
b) 1- 3 months
c) Under one year
NICE recommends a lumbar puncture as part of the investigations for all children:
Under 1 month presenting with fever
1 to 3 months with fever and are unwell
Under 1 year with unexplained fever and other features of serious illness
As v young kids have a BBB that is far easier to penetrate
What would you see on a Lumbar puncture for someone with bacterial meningitis?
CSF:
Appearance - Cloudy/Turbid
WCC - High neutrophils
Protein - High
Glucose - Low
Culture - bacterial organism
bacteria swimming in the CSF (cloudy) will release proteins (high) and use up the glucose (low). Immune response to bacteria is neutrophils
What would the results of an LP CSF sample analysis look like in Viral meningitis?
CSF:
Appearance - Clear
WCC - High Lymphocytes
Protein - Normal/Mildly raised
Glucose - Normal (2.8–4.2mmol/L., two thirds of blood glucose)
Culture - Negative
Viruses cant be seen (clear) don’t use glucose (normal) but may release a small amount of protein (normal/mild inc). Immune response to viruses are lymphocytes
Where is a lumbar puncture usually taken from?
What are some contraindications for a lumbar puncture?
Between L3/L4
Raised ICP
GCS <9
Focal Neurological signs
coagulopathy
Cardiovascular compromise (bradycardia and HTN),
Infection at the site of LP
What is the treatment for viral Meningitis?
Usually milder and so Supportive Tx
If HSV/VZV infection then Acyclovir
What are some immediate management steps for meningitis in kids
A to E approach, and give O2 if needed
Antibiotics
Bolus fluids, as they are acutely unwell
What is the treatment for bacterial meningitis in a hospital, for those over 3 months and not immunocompromised?
IV dexamethasone, ideally administered before or with the first dose of antibiotics once in hospital. Reduces mortality and likelihood of neurological sequelae.
ceftriaxone : 2 g intravenously every 12 hours
OR
cefotaxime : 2 g intravenously every 6 hours
What is the treatment for bacterial meningitis for those under 3 months?
cefotaxime
– AND –
ampicillin
or
amoxicillin
Cefotaxime is used to avoid complications like bilirubin displacement and biliary sludging, which ceftriaxone can do
NICE advise against giving corticosteroids in children younger than 3 months
What is the treatment for suspected meningitis w/ non-blanching rash present in the community?
Urgent/immediate IM Benzylpenicillin
Prior to immediate transfer to a hospital
What do you do as a GP if a patient presents to you w/ non blanching rash and you suspect meningococcal septicaemia?
What can you offer to families/close contacts of a relative with meningitis?
Give IM benzylpenicillin and do an immediate hospital referral
Can offer close contacts Ciprofloxacin
What are some things that neonates may present with that should make you think of meningitis?
Neonates and babies can present with very non-specific signs and symptoms, such as hypotonia, poor feeding, lethargy, hypothermia and a bulging fontanelle.
Any Fever, unless obvious source - need to rule out meningitis
What is the most common cause of Encephalitis, in
a) Children
b) Neonates
In children the most common cause is herpes simple type 1 (HSV-1) from cold sores.
Neonates it is herpes simplex type 2 (HSV-2) from genital herpes, contracted during birth.
What are some syptoms that children get in Encephalitis?
Altered consciousness
Altered cognition
Unusual behaviour
Acute onset of focal neurological symptoms
Acute onset of focal seizures
Fever
What are some investigations for Encephalitis?
Children with features of encephalitis need some key investigations to establish the diagnosis:
Lumbar puncture, sending cerebrospinal fluid for viral PCR testing
CT scan if a lumbar puncture is contraindicated
MRI scan after the lumbar puncture to visualise the brain in detail
CT - encephalitis will show** temporal lobe changes on CT**
EEG recording can be helpful in mild or ambiguous symptoms but is not always routinely required
Swabs of other areas can help establish the causative organism, such as throat and vesicle swabs
HIV testing is recommended in all patients with encephalitis
Contraindications to a lumbar puncture include a GCS below 9, haemodynamically unstable, active seizures or post-ictal.
What is the management for encephalitis?
Intravenous antiviral medications are used to treat the suspected or confirmed underlying cause:
Aciclovir treats herpes simplex virus (HSV) and varicella zoster virus (VZV)
Ganciclovir treat cytomegalovirus (CMV)
Repeat lumbar puncture is usually performed to ensure successful treatment prior to stopping antivirals
Aciclovir is usually started empirically in suspected encephalitis until results are available. Other viral causes have no effective treatment and management is supportive
Needs to be IV not oral aciclovir.
What is slapped cheek syndrome, and what causes it?
one of several possible manifestations of infection by parvovirus B19.
It typically presents as a rash and is more common in children
Also known as Erythma Infectiosum, or fifth disease
What are some symptoms of slapped cheek syndrdome, and how does it affect the body?
HPV-B19 infects the erythroblastoid red cell precursors
in the bone marrow.
asymptomatic infection – common; about 5% to
10% of preschool children and 65% of adults have
antibodies
* erythema infectiosum – the most common illness,
with a viraemic phase of fever, malaise, headache,
and myalgia followed by a characteristic rash on
the face (slapped-cheek) a week later, progressing
to a maculopapular, ‘lace’-like rash on the trunk
and limbs;
arthralgia or arthritis can be common in adults
When can infection with Human Parvovirus B19/slapped cheek syndrome be particualry dangerous?
What can it lead to?
In Pregnant women, as can be transfered to foetus
Miscarriage or fetal death
Severe fetal anaemia
Hydrops fetalis (fetal heart failure)
Maternal pre-eclampsia-like syndrome
In those with sickle cell anaemia or Thalassaemia - Can send them into a aplastic crisis
Treatment is supportive
What is impetigo? What are the common causes of it?
Impetigo is a superficial bacterial skin infection
Most common cause - staphylococcus aureus, can also be caused by streptococcus pyogenes
What are some signs and symptoms of impetigo? Whats the pathophysiology behind it?
staphylococcus aureus bacteria that produces toxins (exfoliative toxins) that breakdown the proteins that hold skin cells together and cause 1-2 cm fluid filled vesicles to form on the skin.
“golden crust” typically occurring around the nose or mouth
Whats the difference between bullous and non bullous impetigo?
non-bullous impetigo, in which blisters are not present. the less common form, bullous impetigo, in which fluid-filled blisters (bullae) are present.
Bullous is more common in <2 year olds, and almost always caused by staph aureus.
What is the treatment for Bullous and non bullous impetigo?
Non bullous
hydrogen peroxide 1% cream for people who are not systemically unwell or at a high risk of complications.
or, a topical antibiotic:
Fusidic acid 2% (apply three times a day for 5 days)
For more widespread or severe non bullous impetigo, as well as bullous impetigo, use
Oral flucloxacillin
What can bullous impetigo lead to?
Systemic Symptoms,They may be feverish and generally unwell.
In severe infections when the lesions are widespread, it is called staphylococcus scalded skin syndrome.
What are some differences between the presentation of VZV and impetigo?
Impetigo
localized (to face or extremities)
Rarely have systemic symptoms
Mild pruritus seen
crusted lesions/blisters
VZV
Diffuse spread or dermatomal w shingles
Intense pruritis
have systemic symptoms
vesicles are on an erythematous base
What causes nappy rash? How should it be treated?
Nappy rash is skin inflammation, mainly due to a reaction of the skin to urine and poo.
Switching to highly absorbent nappies (disposable gel matrix nappies)
Change the nappy and clean the skin as soon as possible after wetting or soiling
Use water or gentle alcohol free products for cleaning the nappy area
Use a thin layer of barrier cream
Ensure the nappy area is dry before replacing the nappy
Maximise time not wearing a nappy
In nappy rash, breakdown in skin and the warm moist environmentcan lead to added infection with candida (fungus) or bacteria, usually staphylococcus or streptococcus. - What are Signs that would point to a candidal infection rather than simple nappy rash?
Rash extending into the skin folds
Larger red macules
Well demarcated scaly border
Circular pattern to the rash spreading outwards, similar to ringworm
Satellite lesions, which are small similar patches of rash or pustules near the main rash
Check for oral thrush with a white coating on the tongue, as this is likely to indicate a fungal infection in the nappy area.
What is the treatment for candida?
- Treatment topical antifungal (imidazole).
- Cease the use of a barrier cream until the candida has settled
Canesten® cream has been used to treat fungal nappy rash for 25 years.
Active ingredient clotrimazole
cloh trimm azz oll
What is characterized by toxic shock syndrome? What causes it?
A severe systemic reaction to staphylococcal exotoxin.
Toxin-producing S. aureus and group A streptococci
Leaving tampons in too long, female barrier contraceptives, any break in the skin, nasal packing for nose bleeds
characterized by:
* fever over 39° C
* hypotension
* diffuse erythematous, macular rash.
what is the treatment of toxic shock syndrome?
This is an emergency, ABCDE approach.
Oxygen
IV Broad spec Abx + IV IG
IV Fluids
Surgical debridement
Antibiotics often include a third-generation cephalosporin
(such as ceftriaxone) together with clindamycin, which
acts on the bacterial ribosome to switch off toxin production. Intravenous immunoglobulin may be given to neutralize the circulating toxin.
What causes scarlet fever? What ages does it most commonly affect?
Scarlet fever infectious disease caused by Streptococcus pyogenes, a Group A streptococcus
The infection is a type of Group A streptococcal infection (Group A strep). It most commonly affects children between five and 15 years of age
What are some signs and symptoms of scarlet fever
Erythematous ‘pinhead’ Sandpaper rash, spares the face, desquamates around the fingers and toes + ‘Strawberry tongue’
Fever, Malaise, headache, nausea.
Scarlet fever usually follows from a group A streptococcal infection
it is a notifiable disease!
What is the treatment for scarlett fever?
Swab throat
Prescribe a 10-day course of phenoxymethylpenicillin (penicillin V) first-line.
Azithromycin if allergic
Can go back to school one day after starting antibiotics
it is a notifiable disease!
What are some complications of scarlett fever?
Complications: can cause otitis media, rheumatic fever or glomerulonephritis.
What causes hand foot and mouth disease?
Coxsackievirus A16 is the most common cause, and enterovirus 71 is the second-most common cause
What is the presentation seen in Hand foot and mouth disease?
Tiredness, sore throat, cough, temperature
Then small mouth ulcers appear, Then discrete red spots appear on hands, feet and around the mouth, Then spots may blister
mild systemic upset: sore throat, fever
oral ulcers
followed later by vesicles on the palms and soles of the feet
What is the treatment for hand foot and mouth disease?
School exclusion rules?
Diagnosis is made based on the clinical appearance of the rash.
There is no treatment for hand, foot and mouth disease. Management is supportive, with adequate fluid intake and simple analgesia such as paracetamol if required. The rash and illness resolve spontaneously without treatment after a week to 10 days
children do not need to be excluded from school
the HPA recommends that children who are unwell should be kept off school until they feel better
Common birthmarks - outline what a salmon patch and an infantile haemangioma is
Salmon patch - Flat red or pink patches on a baby’s eyelids, neck or forehead at birth.
They’re the most common type of vascular birthmark and occur in around half of all babies.
Infantile Haemangioma - strawberry marks, are raised marks on the skin that are usually red, occur in 5% of birth, more common in girls.
Rapidly increase in size for the first six months before shrinking
Common birthmarks - outline what Port wine stain and cafe au lait spots are
What can multiple cafe au lait spots be a sign of?
Port wine stain - discoloration of the human skin caused by a vascular anomaly (a capillary malformation in the skin). Mikhail Gorbachev famously had one on his forehead
Café au lait spots, = flat, hyperpigmented birthmarks. They are caused by a collection of pigment-producing melanocytes in the epidermis of the skin. Multiple of these birth can be a sign of neurofibromatosis type 1
Common birthmarks - outline what Mongolian spots and congenital melanocytic naevi are
What are Mongolian spots now called?
Mongolian spots - More common in darker-skinned people and usually occur over the lower back or buttocks.
now called congenital dermal melanocytosis
congenital melanocytic naevi - normal moles
What are the primative reflexes? Give examples of some
Primitive reflexes are reflex actions from CNS, seen in normal infants, but not neurologically intact adults, in response to particular stimuli.
These reflexes are suppressed by the development of the frontal lobes as a child transitions normally into child development.
eg Moro, Grasp, and Galant
What is the differences between spasticity and rigidity?
Spasticity: UMN lesion in descending motor pathways (otherwise known as pyramidal tracts). Is force (or velocity) dependent- requires slow and fast passive movement to assess
Most common form of hypertonia in children
Rigidity: increased resistance to passive movement throughout the range of motion , often due to basal ganglia/deep nuclei insult e.g. substantia nigra in Parkinson’s disease
What is the grasp reflex?
. When an object is placed in the infant’s hand and strokes their palm, the fingers will close and they will grasp it with a palmar grasp
What is the moro reflex?
Said to be the only unlearned fear in newborns, a reflex done by a startling baby
It is likely to occur if the infant’s head suddenly shifts position, the temperature changes abruptly, or they are startled by a sudden noise. The legs and head extend while the arms jerk up and out with the palms up and thumbs flexed, then infant pulls his arms and legs in and starts crying
What is the galant reflex?
When the skin along the side of an infant’s back is stroked, the infant will swing towards the side that was stroked.
Why should primitive reflexes disappear?
When do they tend to disappear?
Primitive reflexes should gradually disappear as postural reflexes develop. This essential for good motor development.
If they persist, There may be a sign of CNS dysfunction
Should disappear around 6 months of age
What are the 4 domains of child development?
- Gross motor.
- Fine motor and vision.
- Speech, language and hearing.
- Social interaction and self care skills.
What are some developmental milestones for fine motor and vision?
4 months
Grasp an object
Uses both handsreaches for things, and brings things to mouth**
12 months
scribbles with a crayon,
3 years
Tower of multiple cubes
What are the developmental milestones for gross motor function? 6 months to 9 months
- 6m: chest up with arm support, can sit unsupported.
- 8m: crawling.
- 9m: pulls to stand.
The corrected age of a premature baby is the age minus the number of weeks he/she was born early from 40 weeks
The corrected age is taken into consideration when looking at milestones until the age of 2
What are the developmental milestones for gross motor function? 12 months to five years
- 12m: walking.
- 2 years: walking up stairs.
- 3 years: jumping.
- 4 years: hopping.
- 5 years: rides a bike.
What are the developmental milestones for speech, language and hearing?
9 months Says ‘mama’ and ‘dada’
Understands ‘no’
12 months Knows and responds to own name, can say one word
12-15 months Knows about 2-6 words (Refer at 18 months)
Understands simple commands - ‘give it to mummy’
- 3 years: speech is mainly understandable.
Give some developmental milestones for social and self care, 6 weeks to 12 months
6 weeks
Smiles spontaneously
6 months
Finger feeds
9 months
Waves bye – bye
12 months
Uses spoon/fork
The corrected age of a premature baby is the age minus the number of weeks he/she was born early from 40 weeks
The corrected age is taken into consideration when looking at milestones until the age of 2.
What are the different types of epileptic seizures?
Generalised seizures (affect both hemispheres)
Focal (affect one hemisphere/lobe)
What are the subtypes of generalised seizures?
Tonic Clonic
Absence
Tonic
Myoclonic
Atonic
Subtypes of generalised seizure - define
Tonic
Clonic
Tonic - Clonic
Tonic seizure: the muscles become stiff and flexed, which can cause the patient to fall, usually backwards
Clonic seizures: violent muscle contractions (convulsions).
Tonic-clonic seizures: there is loss of consciousness andtonic(muscle tensing) andclonic(muscle jerking) episodes. Typically the tonic phase comes before the clonic phase. There may be associated tongue biting, incontinence, groaning and irregular breathing.
Subtypes of generalised seizures - define
Myoclonic seizures
Absence seizures
Atonic seizures:
Myoclonic seizures: short muscle twitches. The patient usually remains awake during the episode. levetiracetam is first-line for females
Absence seizures:** impaired awareness or responsiveness, Patient becomes blank and stares into space before returning to normal. Motor abnormalities are either absent or very minor e.g. eyelid flutters or repetitive lip smacking
Atonic seizures:** aka drop attacks. The muscles suddenly relax and become floppy, which can cause the patient to fall, usually forward. These don’t usually last more than 3 minutes
**= common in children
What are the subtypes of Focal Seizures? What parts of the brain do they involve
Simple focal - The Focal region of cortex + NO basal ganglia/thalamus involvement
Complex focal The focal region of cortex + Basal ganglia and thalamus are involved.
What Happens in a Simple Focal Seizure?
No Loss of consciousness
The patient is awake and aware
Will have uncontrollable muscle jerking and may be unable to speak
What are infantile spasms? When are they most common and what is seen in them?
These spasms often manifest as sudden, jerking movements of the arms, legs, or trunk. - arms going out and grimacing They can occur in clusters, with each spasm lasting only a few seconds, but they can happen many times a day.
Infantile spasms can be challenging to diagnose because the spasms themselves may not seem significant at first glance and can be mistaken for normal infant movements.
However, they tend to occur in specific patterns, such as upon waking or when the infant is falling asleep. Additionally, they may be associated with developmental delays or regression
known as/seen in West Syndrome
What is the management of status epilepticus?
ABCDE approach - secure airway and give oxygen.
IV bolus—to stop seizures: eg lorazepam 4mg (in hostpial)
Give 2nd dose of lorazepam if no response after 10–20min
Or Buccal Midazolam, or rectal diazepam (try cannulating a fitting person)
Then Phenytoin if second dose doesn’t work.
Get ITU/Anaesthetist help!!
Status epilepticus: rule out hypoxia and hypoglycaemia before thinking of other causes
May need to keep airway open w NasalPharyngeal tube
What are the different causes of seizures, other than epilepsy?
VITAMIN DE:
Vascular - haemorrhage/infarcts
Infection - Encephalitis
Trauma
Alcohol -(if patient has seizures due to alcohol/alcohol withdrawal, give pabrinex)
Metabolic - Hypocalcaemia, Hypo/hypernatraemia, hypoglycaemia
Idiopathic - Epilepsy
Neoplasms - causing a lesion in brain
Dementia + Drugs (cocaine)
Eclampsia + everything else
Status epilepticus: rule out hypoxia and hypoglycaemia before thinking of other causes
What are some side effects of lamotrigine/what is it associated with?
What are some side effects of Carbamazepine?
Lamotrigine is associated with Stevens-Johnson syndrome, Toxic
Epidermal Necrolysis or Hypersensitivity syndrome. its a dermatological medical emergency, type IV hypersensitivity reaction
High levels of carbamazepine are associated with Blurred vision, nystagmus, unsteadiness and incoordination
Describe the treatment for ASD.
- Education and games to encourage social communication.
- Visual aids and timetables.
- Parenting workshops and school liaison.
Manage Comorbidity
There are no medications available for ASD
Diagnosis should be made by a specialist in autism. This may be a paediatric psychiatrist or paediatrician with an interest in development and behaviour. A diagnosis can be made before the age of 3 years. It involves a detailed history and assessment of the child’s behaviour and communication..
What cardiac changes may you seen in someone with severe Anorexia nervosa
Loss of cardiac muscle and impaired cardiac reserve
Starvation causes loss of cardiac muscle as well as skeletal muscle
A weakened atrophied heart also poses a risk during refeeding due to the risk of precipitation of heart failure and even death
Check U and Es
TFTs
Check potassium
What are some clinical signs of anorexia.
What things are raised in it?
Dry skin
Lanugo hair - ”peach fuzz” hair on face and trunk
Orange skin and palms - carotinaemia
Cold hands and feet
Bradycardia
Drop in BP on standing - or increased fainting
Oedema
Week proximal muscles - squat test
Physical differentials - T1DM, Hyperthyroidism, Malnutrition/abuse, DKA
Anorexia features
most things low
G’s and C’s raised: growth hormone, glucose, salivary glands, cortisol, cholesterol, carotinaemia
What are some complications of anorexia nervoia
Osteroporposis and increased risk of fractures - as period stops so less ostrogen circualing that promotes bone health
Growth stunting and pubertal delay
Neurocognitive
Superior mesenteric artery syndrome
Outline some clinical features of bulimia nervosa
Features of bulimia nervosa:
Alkalosis, due to vomiting hydrochloric acid from the stomach
Hypokalaemia
Erosion of teeth
Swollen salivary glands
Mouth ulcers
Gastro-oesophageal reflux and irritation
Calluses on the knuckles where they have been scraped across the teeth. This is called Russell’s sign.
Look out for the teenage girl with a normal body weight that presents with swelling to the face or under the jaw (salivary glands), calluses on the knuckles and alkalosis on a blood gas. The presenting complaint may be abdominal pain or reflux.
What is a testicular torsion?
Testicular torsion refers to twisting of the spermatic cord with rotation of the testicle. leading to ischaemia and eventually necrosis.
“6 hour window” after onset before damage from ischaemia is irreversible!
What is the most typical presentation seen for someone with testicular torsion?
- Quite common in adolescent boys and young men
- Two peaks; one in the neonatal period and one around puberty, with a peak incidence of 13 to 15 years old
Often triggered by playing sport - ask about this in onset of symptoms
What are some risk factors for getting testicular torsion?
- Young age
- Bell clapper deformity:high riding testicle with a horizontal lie -
- Cryptorchidism:undescended testis increase the risk of torsion and would usually present in the first few months of life
- Trauma:trauma-induced torsion accounts for less than 10% of cases
What is the bell clapper deformity?
Why does it happen
Normally the testicle is fixed posteriorly to the tunica vaginalis.
Bell-clapper deformity is where this fixation is absent. It allows testicle to rotate within tunica and as it rotates it twists the vessels and cuts of its blood supply
What are some signs for testicular torsion?
- Swollen, high-riding and tender testicle: skin may be erythematous
-
Abnormal lie
- Horizontal lie
- Rotated so that epididymis is not in normal posterior position
- Elevated (retracted) testicle
absent cremasteric reflex, and prehns sign negative (Prehns is positive in epididymtis)
in testicular torsion, you have absent cremasteric reflex, and prehns sign negative
What is the cremasteric reflex, and what is prehns sign?
-
Absent cremasteric reflex
- Swipe the superior and inner part of the thigh
- A normal reflex contracts the cremaster muscle, pulling up the ipsilateral testis
Reflexalmost always absent
-
Prehn’s negative:
- Pain isnotrelieved on lifting the ipsilateral testicle, unlike in epididymitis
What is a hydrocele?
Hydrocele refers to a collection of serous fluid between the parietal and visceral layers of the tunica vaginalis (membrane covering the testes).
What is the pathophysiology behind simple and communicating hydrocele?
Simple - overproduction of fluid in the tunica vaginalis
Communicating - processus vaginalis fails to close, allowing peritoneal fluid to communicate freely with the scrotal portion
What is a Epidydimal cyst?
Smooth, extra-testicular, spherical sac of fluid in the head of the epididymis (top of testicle). - also known as a spermatocele
What are the two types precocious puberty? Define what it is
The onset of secondary sexual characteristics before 8 or 9
gonadotrophin dependent (central, ‘true’
precocious puberty) from premature activation of
the hypothalamic–pituitary–gonadal axis.
The sequence of pubertal development would be
normal, described as ‘consonant’
Stimulated LH:FSH ratio > 1
gonadotrophin independent (pseudo, ‘false’
precocious puberty) from excess sex steroids
outside the pituitary gland. The sequence of
pubertal development would be abnormal,
described as ‘dissonant’.
Stimulated LH:FSH ratio < 1
What are the two types of congenital hypothyroidism, and what % of cases do they account for?
Thyroid dysgenesis is a developmental abnormality of the thyroid gland. Either it doesn’t develop at all (agenesis) or it is poorly formed - 85% of cases
Thyroid dyshormogenesis
anatomically normal thyroid gland. An enzymatic defect means the thyroid is unable to produce thyroid hormone normally. This accounts for the remaining 15% of cases
Don’t forget iodine deficiency as well!!, this is still the most common cause of congenital hypothyroidism world wide!
What are some common signs and symptoms of congenital hypothyroidism?
Feeding difficulties
Lethargy and increased sleeping
Constipation
Prolonged jaundice
Hoarse cry
Poor growth
Macroglossia
Myxedema
Large fontanelles
Hypotonia
Bradycardia
Briefly describe the pathophysiology behind Kallman syndrome.
Kallman syndrome is a genetic condition causing hypogonadotropic hypogonadism, resulting in failure to start puberty. It is associated with a reduced or absent sense of smell (anosmia).
Normal physiology - what does Aldosterone do? What stimulates it release?
act on the kidneys to control the balance of salt and water in the blood.
Releasedin response to decreased perfusion at the JGA, so acts on the kidneys to increase sodium and water reabsorption into the blood and increase potassium secretion into the urine.
increase sodium and decrease potassium in the blood.
Its a mineralocorticoid, released in response to Renin, in the Zona Glomerulusa
What does the 21-hydroxylase enzyme responsible for?
21-hydroxylase is the enzyme responsible for converting progesterone into aldosterone and cortisol.
Progesterone is also used to create testosterone, but this conversion does not rely on the 21-hydroxylase enzyme
Outline the pathophysiology behind Congenital adrenal hyperplasia
there is a defect in the 21-hydroxylase enzyme. Therefore, because there is extra progesterone floating about that cannot be converted to aldosterone or cortisol, it gets converted to testosterone instead. The result is a patient with low aldosterone, low cortisol and abnormally high testosterone.
*its a cause of ‘false’ or Gonadotrophin independant precocoious puberty, as FSH:LH is less than one *
What features will neonates shortly after birth present with CAH?
virilised genitalia (in women)
Patients with more severe CAH present shortly after birth with hyponatraemia, hyperkalaemia and hypoglycaemia.
This leads to signs and symptoms:
Poor feeding
Vomiting
Dehydration
Arrhythmias
What happens in complete AIS?
In this situation, the body is completely unresponsive to testosterone.
– This gives external female genitalia and sexual characteristics but male internal reproductive organs. (as female is the default sex)
– These individuals are typically raised as females until puberty and may not even know they have the condition until symptoms start to show at puberty
When the Wolffian ducts are exposed to testosterone during embryogenesis, male sexual differentiation
occurs: the Wolffian duct develops into the rete testis, the ejaculatory ducts, the epididymis, the ductus
deferens and the seminal vesicles. Without the stimulation from androgens, as in androgen insensitivity
syndrome, this development will not occur
What are the symptoms of complete AIS?
Symptoms:
– Primary amenorrhoea –> no periods as these individuals lack a uterus
– Groin masses –> due to undescended testes
At puberty, serum levels of testosterone and LH are elevated.
Conversion of testosterone to oestradiol in the testis and in peripheral
tissues results in normal breast development.
* Pubic and axillary hair development is absent or sparse.
– May look more masculine in their appearance than XX girls
What are the symptoms of partial AIS?
Partial Androgen Insensitivity
This means that the body is partially responsive to testosterone, but less so than in healthy males. These individuals may be raised as males or as females
Symptoms:
– Genitalia may look typically female, typically male, or ambiguous
– Born with male sex characteristics but often infertile and underdeveloped
– Can experience breast enlargement at puberty
What are some signs/Symptoms of Acute Lymphblastic leukaemia?
-Anaemia 🡪 breathlessness, fatigue, pallor
Infection
Hepatosplenomegaly
Peripheral lymphadenopathy (swollen lymph nodes)
CNS involvement 🡪 headache, cranial nerve palsies
Easy bruising
SVC obstruction, dilated superficial chest veins
Bone marrow failure and bone pain
What is tumour lysis syndrome? What can it lead to?
What would you see on U and Es for Tumour lysis syndrome
Tumour lysis syndrome is caused by the release of uric acid from cells that are being destroyed by chemotherapy.
High uric acid
High potassium (hyperkalaemia)
High phosphate
Low calcium (as a result of high phosphate)
The uric acid can form crystals in the interstitial tissue and tubules of the kidneys and causes acute kidney injury.
What does the secretion of glucagon, adrenaline, cortisol, result in? (Type 1 diabetes)
How do they present?
Gluconeogenesis, Glycogenolysis and ketogenesis.
Patients as a result present with ketoacidosis and hyperglycaemia.
Define type 2 diabetes
A progressive disorder defined by deficits in insulin secretion and insulin resistance that lead to abnormal metabolism and related metabolic derangements
Outline the pathophysiology of Type 2 diabetes
Repeated exposure to high levels of Glucose and insulin makes the cells in the body come resistant to insulin.
Over time, the pancreas (specifically the beta cells) becomes fatigued and damaged by producing so much insulin and they start to produce less.
Fasting glucose levels increases
What is the second line treatment for someone with type 2 diabetes?
Medical management: First line: metformin titrated from initially 500mg once daily as tolerated.
Metformin is a “biguanide”. It increases insulin sensitivity and decreases liver production of glucose. It is considered to be “weight neutral” and does not increase or decrease body weight.
Management cardiovascular risks:
An ACE inhibitor or an angiotensin-II receptor antagonist
If an ACE inhibitor is not tolerated, use an angiotensin-II receptor antagonist instead
because metformin only increases insulin sensitivity instead of stimulating more insulin, it’ll rarely cause hypoglycaemia
What does insulin do at muscle and fat cells?
Insulin binds to muscle and fat cells via receptors
Which leads to intracellular glut4 vesicles to go to bind to the plasma membrane, which means that glucose will go and enter the cell via these GLUT4 membranes
Glucose enters the cells
What are the most common brain tumours in children?
Astrocytoma (~40%) – varies from benign to highly
malignant (glioblastoma multiforme). From astrocytes
- Medulloblastoma (~20%) – arises in the midline of
the posterior fossa. (cerebellum) May seed through the CNS via
the CSF and up to 20% have spinal metastases at
diagnosis. - Ependymoma (~8%) – mostly in posterior fossa
where it behaves like medulloblastoma - ependymoma is a tumor that arises from the ependyma, a tissue of the central nervous system. more commonly intracranial in kids
What prompts/red flags that you should scan children for suspected tumours
If also papilloedema, decreased acuity, visual loss
If also other neurological signs (or they develop)
If recurrent and/or early morning
If associated with vomiting
if persistent, more frequent, preceded by headache
If also have short stature / decelerated linear growth
If have symptoms of diabetes insipidus
If age < 3 years
If child has neurofibromatosis (NF1)
Name some of the investigations you’d do for a Wilm’s tumour
The initial investigation is an ultrasound of the abdomen to visualise the kidneys. A CT or MRI scan can be used to stage the tumour. Biopsy to identify the histology is required to make a definitive diagnosis.
Give 2 signs of a neuroblastoma tumour.
- Abdominal mass - often crosses the midline and envelopes major vessels and lymph nodes.
- Symptoms of metastases e.g. bone pain, weight loss, pallor, limp, hepatomegaly.
Give 3 signs of retinoblastoma.
- Loss of red reflex.
- Pain around the eye.
- Poor vision.
- Squint
What are some investigations for an osteosarcoma? What would you see on xray?
Xrays - poorly defined lesion in the bone, with destruction of the normal bone and a “fluffy” appearance.
Will also see periosteal reaction, classically described as a “sun-burst” appearance. There can an associated soft tissue mass.
Blood tests may show a raised alkaline phosphatase (ALP).
Further investigations is used to better define the lesion and stage the cancer:
CT scan
MRI scan
Bone scan
PET scan
Bone biopsy
