Paediatrics 2 Flashcards
What is eczema?
A skin condition that is caused by defects in the continuity of the the skin barrier leading to inflammation of the skin
Where does eczema usually present?
It usually presents in infancy with dry, red, itchy sore patches of skin over the flexor services
What are the two types of management for eczema?
- Maintenance
- Management of flares
What is key to the maintenance of eczema?
Creating an artificial barrier over the skin to compensate the defective skin barrier
This is done using emollients and they should be used as soap substitutes when washing.
Also avoid breaking down skin barrier with things such as hot baths, scratching or scrubbing skin
What is used to treat flares?
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. Very rarely IV antibiotics or oral steroids might be required in very severe flares.
What are the thin emollients used in eczema?
E45
Diprobase cream
Oilatum cream
Aveeno cream
Cetraben cream
Epaderm cream
What are the thick emollients used in eczema?
50:50 ointment (50% liquid paraffin)
Hydromol ointment
Diprobase ointment
Cetraben ointment
Epaderm ointment
What are the dangers of using steroids in eczema?
They can lead to thinning of the skin which can then make the skin more prone to infection. It can also lead to systemic absorption
The general rule is using the weakest steroid for the shortest period of time to get the skin under control
What is the steroid ladder?
Mild: Hydrocortisone 0.5%, 1% and 2.5%
Moderate: Eumovate (clobetasone butyrate 0.05%)
Potent: Betnovate (betamethasone 0.1%)
Very potent: Dermovate (clobetasol propionate 0.05%)
What is Stephens-Johnson syndrome and toxic epidermal necrolysis (TEN)?
A disproportional immune response which causes epidermal necrosis resulting in blistering and shedding of the top layer of skin.
Typically SJS affects less than 10% of skin and TEN affects more than 10% of skin
Certain HLA subtypes are more at risk of developing it
What are some medications which can cause SJS?
- Anti-epileptics
- Antibiotics
- Allopurinol
- NSAIDs
What are some infections that can cause SJS?
- HSV
- Mycoplasma pneumonia
- CMV
- HIV
What is the presentation of SJS?
- Starts with non-specific symptoms such as fever, cough, sore throat, sore mouth, eyes and itchy skin
- They then develop a purple or red rash that spreads across the skin and starts to blister
- A few days after the blistering starts, the skin starts to break away and shed leaving the raw tissue underneath. Pain, erythema, blistering and shedding can also happen to the lips and mucous membranes. Eyes can become inflamed and ulcerated. It can also affect the urinary tract, lungs and internal organs.
What is the management of SJS?
- Steroids
- Immunoglobulins
- Immunosuppressants
What are the complications of SJS?
Secondary infection: The breaks in the skin can lead to secondary bacterial infection, cellulitis and sepsis.
Permanent skin damage: Skin involvement can lead to scarring and damage to skin, hair, nails, lungs and genitals.
Visual complications: Depending on the severity, eye involvement can range from sore eyes to severe scarring and blindness.
What is allergic rhinitis?
A IgE-mediated type 1 hypersensitivity reaction caused by environmental allergens in the nasal mucosa.
What can cause allergic rhinitis?
Seasonal, for example hay fever
Perennial (year round), for example house dust mite allergy
Occupational, associated with the school or work environment
What are the symptoms of allergic rhinits?
Runny, blocked and itchy nose
Sneezing
Itchy, red and swollen eyes
Allergic rhinitis is associated with a personal or family history of other allergic conditions (atopy).
Diagnosis is usually made based on the history. Skin prick testing can be useful, particularly testing for pollen, animals and house dust mite allergy.
What is the management of allergic rhinitis?
Non-sedating antihistamines include cetirizine, loratadine and fexofenadine
Sedating antihistamines include chlorphenamine (Piriton) and promethazine
Nasal corticosteroid sprays such as fluticasone and mometasone can be taken regularly to suppress local allergic symptoms.
Nasal antihistamines may be a good option for rapid onset symptoms in response to a trigger.
What causes urticaria?
Urticaria are caused the release of histamine and other pro-inflammatory chemicals by mast cells in the skin.
This may be part of an allergic reaction in acute urticaria or an autoimmune reaction in chronic idiopathic urticaria.
What are some causes of acute utricaria?
Allergies to food, medications or animals
Contact with chemicals, latex or stinging nettles
Medications
Viral infections
Insect bites
Dermatographism (rubbing of the skin)
What are the three types of chronic urticaria?
Chronic idiopathic urticaria
Chronic inducible urticaria
Autoimmune urticaria
Describe each type of chronic utricaria?
Chronic idiopathic urticaria describes recurrent episodes of chronic urticaria without a clear underlying cause or trigger.
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
Pressure (dermatographism)
Autoimmune urticaria describes chronic urticaria associated with an underlying autoimmune condition, such as systemic lupus erythematosus.
What is the main treatment for utricaria?
Fexofenadine or oral steroids
What are some specialist treatments for urticaria?
Anti-leukotrienes such as montelukast
Omalizumab, which targets IgE
Cyclosporin
What is the presentation of anaphylaxis?
Urticaria
Itching
Angio-oedema, with swelling around lips and eyes
Abdominal pain
Additional symptoms that indicate anaphylaxis are:
Shortness of breath
Wheeze
Swelling of the larynx, causing stridor
Tachycardia
Light-headedness
Collapse
What is given to treat anaphylaxis after the A-E assessment has been done?
Intramuscular adrenalin, repeated after 5 minutes if required as it has a short half-life
Antihistamines, such as oral chlorphenamine or cetirizine
Steroids, usually intravenous hydrocortisone
What can be measured to confirm anaphylaxis?
Measure serum mast tryptase. It stays in the blood for 6 hours
How do you use an adrenalin auto-injector (epi pen)
Prepare the device by removing the safety cap on the non-needle end. There is a blue cap on EpiPen and a yellow cap on Jext.
Grip the device in a fist with the needle end pointing downwards. The needle end is orange on EpiPen and black on Jext. Do not put your thumb over the end, because if the device is upside down you will inject your thumb with adrenalin and could risk losing it.
Administer the injection by firmly jabbing the device into the outer portion of the mid thigh until the device clicks. This can be done through clothing. EpiPen advise holding it in place for 3 seconds and Jext advise 10 seconds before removing the device.
Remove the device and gently massage the area for 10 seconds.
Phone an emergency ambulance. A second dose may be given (with a new pen) after 5 minutes if required.
What concentration of adrenalin is given in anaphylaxis?
Adrenaline (IM*) 1:1000
What are the different doses of adrenalin used?
- Children older than 12: 500 micrograms
- Children aged 6-12: 300 micrograms
- Children aged 6 months to 6 years: 150 micrograms
What is Kawasaki disease?
It is a systemic, medium-sized vessel vasculitis. It affects young children typically under 5 year. There is no clear cause or trigger
It is more common among Asian children particularly Japanese and Korean and more common in boys
What are the clinical features of Kawasaki disease?
- A persistent high fever for more than 5 days.
- A widespread erythematous maculopapular rash and desquamation on the palms and soles of the feet
What are some other features of Kawasaki’s diease?
Strawberry tongue (red tongue with large papillae)
Cracked lips
Cervical lymphadenopathy
Bilateral conjunctivitis
What are the investigations for Kawasaki’s disease?
- FBC can show anaemia and Leukocytosis and thrombocytosis
- LFT can show hypoalbuminemia and elevated liver enzymes
- Inflammatory markers (ESR) are raised
- Urinalysis can show raised white blood cells without infection
- Echocardiogram can demonstrate coronary artery pathology
What are the 3 phases of Kawasaki disease?
- Acute phase: the rash with the fever and lymphadenopathy 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.
What is the treatment for Kawasaki disease?
- High dose aspirin to reduce the risk of thrombosis
- IV immunoglobulins to reduce the risk of coronary artery aneurysms
Why is aspirin not usually used to treat children?
Because of the risk of Reye’s sydrome
When do symptoms usually appear after exposure to measels?
10-12 days
What are the first symptoms of measels?
Fever, coryzal and conjunctivitis
What is the the diagnostic feature of measels?
Koplik spots, they are greyish white spots on the mouth.
They appear 2 days after the fever if you see them you can diagnose them (pathognomonic)
When does the rash appear in measles and where does it start to show first/
The rash starts on the face, classically behind the ears, 3 – 5 days after the fever. It then spreads to the rest of the body. The rash is an erythematous, macular rash with flat lesions.
How long does measles take to resolve and how long do children need to isolate if they have it?
Measles is self resolving after 7 – 10 days of symptoms. Children should be isolated until 4 days after their symptoms resolve.
Measles is a notifiable disease and all cases need to be reported to public health. 30% of patients with measles develop a complication.
What are the complications of measles?
- Pneumonia
- Diarrhoea
- Dehydration
- Encephalitis
- Meningitis
- Hearing loss
- Vision loss
- Death
When do symptoms appear with rubella?
2 weeks after exposure
What are the symptoms of ubella?
It presents with a milder erythematous macular rash compared with measles. The rash starts on the face and spreads to the rest of the body. The rash classically lasts 3 days.
It can be associated with a mild fever, joint pain and a sore throat. Patients often have enlarged lymph nodes (lymphadenopathy) behind the ears and at the back of the neck.
What is the management of rubella?
Management is supportive and the condition is self limiting. Rubella is a notifiable disease and all cases need to be reported to public health.
Children should stay off school for at least 5 days after the rash appears. Children should avoid pregnant women.
What are the complications of rubella?
- Thrombocytopenia
- Encephalitis
It is also dangerous in pregnancy and can lead to congenital rubella syndrome:
- Deafness
- Blindness
- Congenital heart disease
What causes slapped cheek syndrome?
Parvovirus B19
How does SCS present?
Parvovirus infection starts with mild fever, coryza and non-specific viral symptoms such as muscle aches and lethargy.
After 2 – 5 days the rash appears quite rapidly as a diffuse bright red rash on both cheeks, as though they have “slapped cheeks”.
A few days later a reticular mildly erythematous rash affecting the trunk and limbs appears that can be raised and itchy. Reticular means net-like.
Who is at risk of complications with slapped cheek syndrome?
- Immunocompromised patients
- Pregnant women
- Sickle cell
- Thalassaemia
- Hereditary spherocytosis
Patients with haematological condition will require FBC checking
What are the complications of SCS?
- Aplastic anaemia
- Encephalitis
- Fetal death
- Hepatitis
- Myocarditis
- Nephritis
What causes chickenpox?
Varicella zoster virus
What is the presentation of chickenpox?
Chickenpox is characterised by widespread, erythematous, raised, vesicular (fluid filled), blistering lesions. The rash usually starts on the trunk or face and spreads outwards affecting the whole body over 2 – 5 days. Eventually the lesions scab over, at which point they stop being contagious.
Other symptoms:
Fever is often the first symptom
Itch
General fatigue and malaise
What are the complications of chickenpox?
Bacterial superinfection
Dehydration
Conjunctival lesions
Pneumonia
Encephalitis (presenting as ataxia)
What is the presentation of diptheria?
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 Scaled skin syndrome?
A condition caused by a type of S.aureus bacteria that produces epidermolytic toxins
These toxins are protease enzymes that break down proteins that hold skin cells together
What age usually get SSS?
Children under age of 5 as older children have developed immunity to the toxins
What is the presentation of SSS?
- Patches of erythema of the skin, this causes the skin to look thin and wrinkled
This is followed by the formation of fluid filled blisters called bullae which burst and leave sore skin below
What is a sign that is a positive test for SSS?
Nikolsky sign is where very gentle rubbing of the skin causes it to peel away.
What is the management of SSS?
Iv antibiotics
What is whooping cough?
An upper respiratory tract infection caused by Bordetella pertussis (a gram neg).
It is called whooping cough because the coughing fits are so severe that the child can’t take in any air between coughs
What are some presentations of whooping cough?
More severe coughing fits start after a week or more. These involve sudden and recurring attacks of coughing with cough free periods in between. This is described as a paroxysmal cough.
Coughing fits are severe and keep building until the patient is completely out of breath. Patient typically produces a large, loud inspiratory whoop when the coughing ends.
Patients can cough so hard they faint, vomit or even develop a pneumothorax. Bear in the mind that not all patients will “whoop” and infants with pertussis may present with apnoeas rather than a cough.
What is the initial presentation of whooping cough?
Pertussis typically starts with mild coryzal symptoms, a low grade fever and possibly a mild dry cough
How is whooping cough diagnosed?
A nasal swab with PCR testing or bacterial culture within 2-3 weeks if symptoms
Can be tested for the anti-pertussis toxin immunoglobulin G. This is tested for in the oral fluid of children aged 5 to 16 and in the blood of those aged over 17.
What is the management of whooping cough?
Macrolide antibiotics such as azithromycin, erythromycin and clarithromycin can be beneficial in the early stages (within the first 21 days) or vulnerable patients. Co-trimoxazole is an alternative to macrolides.
Close contacts with an infected patient are given prophylactic antibiotics if they are in a vulnerable group, for example pregnant women, unvaccinated infants or healthcare workers that have contact with children or pregnant women
What are the complications of whooping cough?
The symptoms typically resolve within 8 weeks, however they can last several months. It is also known as the “100-day cough” due to the potential long duration of the cough. A key complication of whooping cough is bronchiectasis.
What is polio?
Poliomyelitis an acute clinical disease caused by a polio virus
It remains endemic in Afghanistan and Pakistan
What are the symptoms of polio?
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 type of bacteria causes TB?
Mycobacterium tuberculosis.
It is an acid-fast bacilli and will be seen using a Zeihl-neelson stain and turn bright red
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 the risk factors for catching TB?
- Close contact with active TB
- Immigrants from areas with high prevalence
- Immunocompromised
- Malnutrition, homelessness, drug users, smokers and alcoholics
What is the BCG vaccine?
Involves an intradermal injection of **live attenuated Mycobacterium bovis bacteria (a close relative of M. tuberculosis that does not cause disease in humans).
The vaccine protects against severe and complicated TB but less against pulmonary TB
What needs to be tested before the BCG vaccine can be given?
he Mantoux test and only given the vaccine if this test is negative. They are also assessed for the possibility of immunosuppression and HIV due to the risks related to a live vaccine.
What is the presentation of TB?
Cough
Haemoptysis (coughing up blood)
Lethargy
Fever or night sweats
Weight loss
Lymphadenopathy
Erythema nodosum (tender, red nodules on the shins caused by inflammation of the subcutaneous fat)
Spinal pain in spinal tuberculosis (also known as Pott’s disease of the spine)
What are the investigations for previous TB infections?
- Mantoux test
- Interferon-gamma release assay
What is the Mantoux test?
he Mantoux test involves injecting tuberculin into the intradermal space on the forearm. Tuberculin is a collection of tuberculosis proteins isolated from the bacteria. It does not contain any live bacteria.
The infection creates a bleb under the skin. After 72 hours, the test is “read”. This involves measuring the induration of the skin at the injection site. An induration of 5mm or more is considered a positive result.
What will a chest x-ray show for TB?
Primary tuberculosis may show patchy consolidation, pleural effusions and hilar lymphadenopathy
Reactivated tuberculosis may show patchy or nodular consolidation with cavitation (gas-filled spaces), typically in the upper zones.
Disseminated miliary tuberculosis gives an appearance of millet seeds uniformly distributed across the lung fields.
What is used to assess the genetic material of a TB sample?
NAAT test
What is the treatment for latent TB?
Isoniazid and rifampicin for 3 months or Isoniazid for 6 months
What is the treatment of active TB?
R – Rifampicin for 6 months
I – Isoniazid for 6 months
P – Pyrazinamide for 2 months
E – Ethambutol for 2 months
What are the side effects of rifampicin?
can cause red/orange discolouration of secretions, such as urine and tears. It is a potent inducer of the cytochrome P450 enzymes and reduces the effects of drugs metabolised by this system, such as the combined contraceptive pill.
What are the side effects of isoniazid?
can cause peripheral neuropathy. Pyridoxine (vitamin B6) is co-prescribed to reduce the risk.
What are the side effects of pyrazinamide?
Pyrazinamide can cause hyperuricaemia (high uric acid levels), resulting in gout and kidney stones.
What are the side effects of ethambutol?
can cause colour blindness and reduced visual acuity.
Outline basic pathophysiology 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 spread to children?
Sexual abuse/unprotected sex
- Mother to child at any stage of pregnancy, birth or breastfeeding (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.
what is the mode of delivery for mothers with HIV?
Will be determined by the viral load of the mother
Normal vaginal is recommended for women with 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
What is the prophylactic treatment for babies at risk of HIV?
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
Can mothers who have HIV breastfeed?
NO
When should children with HIV positive parents be tested?
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 paediatric HIV?
ART to suppress the HIV
ormal 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 is meningitis?
Inflammation of the meninges. They make up the lining of the spinal cord and brain. The inflammation is usually due to a bacterial or viral infection
What is the most common cause of bacterial meningitis in adults and children?
Neisseria meningitidis a gram-negative diplococcus bacteria and streptococcus pneumoniae
What is the most common cause of meningitis in neo-nates?
Group B strep which is contracted form birth
What are the symptoms of meningitis in children?
Fever, neck stiffness, vomiting, headache, photophobia, altered consciousness and seizures.
Can also present with non-blanching rash in meningococcal septicaemia
What does the non-blanching rash indicate in meningitis?
. This rash indicates the infection has caused disseminated intravascular coagulopathy (DIC) and subcutaneous haemorrhages.
What are the presentations of meningitis in neonates?
- Hypotonia
- Poor feeding
- Lethargy
- Hypothermia
- Bulging fontanelle
When is a lumbar puncture indicated in a neonate?
- 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
What are the two tests to look for meningeal irritation?
Kernig’s test
Brudzinski’s test
What is Kernig’s test?
Involves lying the patient on their back, flexing one hip and knee to 90 degrees and then slowly straightening the knee whilst keeping the hip flexed at 90 degrees. This creates a slight stretch in the meninges. Where there is meningitis it will produce spinal pain or resistance to movement.
What is brudzinski’s test?
Involves lying the patient flat on their back and gently using your hands to lift their head and neck off the bed and flex their chin to their chest. In a positive test this causes the patient to involuntarily flex their hips and knees.
How is bacterial meningitis managed in the community?
If they have suspected meningitis and a non blanching rash give IM injection of benzylpenicillin.
What should ideally be performed before starting antibiotics in meningitis?
Ideally a blood culture and a lumbar puncture for cerebrospinal fluid (CSF) should be performed prior to starting antibiotics, however if the patient is acutely unwell antibiotics should not be delayed.
Send blood tests for meningococcal PCR if meningococcal disease is suspected. This tests directly for the meningococcal DNA. It can give a result quicker than blood culture depending on local services, and will still be positive after the bacteria has been treated with antibiotics.
What is the treatment for bacterial meningitis?
Under 3 months: give Cefotaxime plus amoxicillin ( the amoxicillin is to cover listeria)
Above 3 months: Ceftriaxone
Vancomycin should be added if there is a risk of Penicillin resistant pneumococcal infection
What is given to reduce the severity of hearing loss and neurological damage in meningitis?
Dexamethasone given 4 times daily for 4 days
Is bacterial meningitis a notifiable disease?
YES
What is given as post-exposure prophylaxis in meningitis?
Single dose of ciprofloxacin
What can cause viral meningitis?
herpes simplex virus (HSV), enterovirus and varicella zoster virus (VZV)
Where is a lumbar puncture taken from?
L3-L4
What are the differences in the lumbar puncture between viral and bacterial meningitisd?
Appearance= cloudy in bacterial
Protein= High in bacterial
Glucose= Low in bacterial
White cells= Neutrophils in bacterial
White cells= Lymphocytes in viral
What is encephalitis?
It means inflammation of the brain. It can be the result of infective or non-infective causes.
Non-infective causes are autoimmune
What is the most common cause of encephalitis in children?
HSV-1 from cold sores
What is the most common cause of encephalitis in neo-nates?
HSV-2 contracted from genital herpes at birth
What are some other causes of encephalitis?
Varicella zoster virus (VZV) associated with chickenpox,
cytomegalovirus associated with immunodeficiency,
Epstein-Barr virus associated with infectious mononucleosis,
enterovirus, adenovirus and influenza virus
What is the presentation of encephalitis?
- Altered consciousness
- Altered cognition
- Unusual behaviour
- Acute onset of focal neurological symptoms
- Acute onset of focal seizures
- Fever
What are the investigations required to establish a diagnosis of encephalitis?
- Lumbar puncture sending CSF for viral PCR testing
- CT scan if LP contraindicated
- MRI after LP
- 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
What are some contraindications for LP?
- GCS below 9
- Haemodynamically unstable
- Active seizures
- Post-ictal
What is used to treat encephalitis?
- Acyclovir treats herpes simplex virus (HSV) and varicella zoster virus (VZV)
- Ganciclovir treat cytomegalovirus (CMV)
What are the complications of encephalitis?
Lasting fatigue and prolonged recovery
Change in personality or mood
Changes to memory and cognition
Learning disability
Headaches
Chronic pain
Movement disorders
Sensory disturbance
Seizures
Hormonal imbalance
What are the two types of impetigo?
- Bullous
- Non-bullous
What is non bullous impetigo?
occurs around the nose or mouth. The exudate from the lesions dries to form a “golden crust”. They are often unsightly but do not usually cause systemic symptom
What is the treatment for non-bullous impetigo?
- Topical fusidic acid can be used to treat localised non-bullous impetigo
- antiseptic cream (hydrogen peroxide 1% cream) first line rather than antibiotics for localised non-bullous impetigo.
What is bullous impetigo?
- Always caused by S.aureus
- They produce epidermolysis toxins that break down proteins that hold skin cells together
Which group does bullous impetigo typically affect?
Neonates and children under 2
What can happen if the lesions are widespread and severe in bullous impetgio?
Can cause severe infection called staphylococcus scalded skin syndrome
- Treat with flucloxacillin
What are the complications of impetigo?
Cellulitis if the infection gets deeper in the skin
Sepsis
Scarring
Post streptococcal glomerulonephritis
Staphylococcus scalded skin syndrome
Scarlet fever
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?
- 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 toxic shock syndrome?
A severe systemic reaction to staphylococcal exotoxin
It is produced by S.aureus and group A streptococci
What are some causes of TSS?
Leaving tampons in too long, female barrier contraceptives, any break in the skin, nasal packing for nosebleeds
What are the symptoms of TSS/
- fever over 39° C
- hypotension
- diffuse erythematous, macular rash.
What is the treatment of TSS?
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 is scarlet fever?
Associated with a group A streptococcus infection usually tonsillitis
What causes scarlet fever and what is it’s defining feature?
Caused by an exotoxin
It causes a red-pink blotchy macular rash with rough sandpaper skin that starts on the trunk and spreads outwards
What are some other features of scarlet fever?
Fever
Lethargy
Flushed face
Sore throat
**Strawberry tongue*8
Cervical lymphadenopathy
What is the treatment of scarlet fever?
- Pen V for 10 days
It is a notifiable disease and should be reported to public health. Children should be kept off school for 24 hours after starting antibiotics
What are some other conditions associated with strep A infections?
Post-streptococcal glomerulonephritis
Acute rheumatic fever
What causes hand foot and mouth disease?
Coxsackie A virus
What are the symptoms of coxsackie virus?
Incubation period of 3-5 days
viral upper respiratory tract symptoms such as tiredness, sore throat, dry cough and raised temperature. After 1 – 2 days small mouth ulcers appear, followed by blistering red spots across the body.
What are the complications of hand foot and mouth disease?
Dehydration
Bacterial superinfection
Encephalitis
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 is severe combined immunodeficiency (SCID)?
Children have almost no immunity to infections
What is the presentation of SCID?
Persistent severe diarrhoea
Failure to thrive
Opportunistic infections that are more frequent or severe than in healthy children, for example severe and later fatal chickenpox,
Pneumocystis jiroveci pneumonia and cytomegalovirus
Unwell after live vaccinations such as the BCG, MMR and nasal flu vaccine
What are the causes of SCID?
- More than 50% of cases are caused by a mutations in the common gamma chain on the X chromosome that codes for interleukin receptors on T and B cells. This has X-linked recessive inheritance.
- JAC3 gene mutations
- Mutations leading to adenosine deaminase deficiency
What is Omenn syndrome?
Omenn syndrome is a rare cause of SCID. It is the result of a mutation in the recombination-activating gene (RAG 1 or RAG 2) that codes for important proteins in T and B cells. It has autosomal recessive inheritance.
The syndrome is caused by abnormally functioning and deregulated T cells that attack the tissues in the fetus or neonate. This leads the classic features of Omenn syndrome:
A red, scaly, dry rash (erythroderma)
Hair loss (alopecia)
Diarrhoea
Failure to thrive
Lymphadenopathy
Hepatosplenomegaly
What is global development delay?
A child displaying slow development in all domains
What can cause global developmental delay?
- Down’s syndrome
- Fragile X
- Fetal alcohol syndrome
- Rett syndrome
- Metabolic disorders
What can cause gross motor delay?
- Cerebral palsy
- Ataxia
- Myopathy
- Spina bifida
- Visual impairment
What can cause fine motor delay?
- Dyspraxia
- Cerebral palsy
- Muscular dystrophy
- Visual impairment
- Congenital ataxia
What can cause language delay?
- Specific social circumstances, for example exposure to multiple languages or siblings that do all the talking
- Hearing impairment
- Learning disability
- Neglect
- Autism
- Cerebral palsy
What are the gross motor milestones for birth to 1 year?
4 months: Support of their own head
6 months: They can maintain a sitting position but they don’t always have balance
9 months: Sit unsupported, start crawling, they can stand on their legs and bounce when supported
12 months: They can begin cruising walking whilst holding on to furniture
What are the gross motor milestones from 1 year onwards
15 months: Walk unaided.
18 months: Squat and pick things up from the floor.
2 years: Run. Kick a ball.
3 years: Climb stairs one foot at a time. Stand on one leg for a few seconds. Ride a tricycle.
4 years: Hop. Climb and descend stairs like an adult.
What are the fine motor mile stones at 8 weeks and 6 months?
8 weeks: Fixes their eyes on an object 30 centimetres in front of them and makes an attempt to follow it. They show a preference for a face rather than an inanimate object.
6 months: Palmar grasp of objects (wraps thumb and fingers around the object).
What are the fine motor milestones at 9 months, 12 months and 18 months?
9 months: Scissor grasp of objects (squashes it between thumb and forefinger).
12 months: Pincer grasp (with the tip of the thumb and forefinger).
14-18 months: They can clumsily use a spoon to bring food from a bowl to their mouth.
What are the expressive language milestones up until 12 months?
3 months: Cooing noises
6 months: making noises with consonants
9 months: Babies sound more like talking but not saying any words
12 months: Says single words in context, e.g. “Dad-da” or “Hi”
What are the expressive language milestones after 1 year?
18 months: Has around 5 – 10 words
2 years: Combines 2 words. Around 50+ words total.
2.5 years: Combines 3 – 4 words
3 years: Using basic sentences
4 years: Tells stories
What are the repetitive language milestones up to 1 year?
3 months: Recognises parents and familiar voices and gets comfort from these
6 months: Responds to tone of voice
9 months: Listens to speech
12 months: Follows very simple instructions
What are the the repetitive milestones after 1 year?
18 months: 1 key word, for example “show me the spoon”
2 years: 2 key words, for example “show me the spoon and the cup”
3 years: 3 key words, for example “put the spoon under the step”
4 years: 4 key words, for example “put the red spoon under the step”
18 months: Understands nouns, for example “show me the spoon”
2 years: Understands verbs, for example “show me what you eat with”
2.5 years: Understands propositions (plan of action), for example “put the spoon on / under the step”
3 years: Understands adjectives, for example “show me the red brick” and “which one of these is bigger?”
4 years: Follows complex instructions, for example “pick the spoon up, put it under the carpet and go to mummy”
What are the personal and social milestones up to 1 year?
6 weeks: Smiles
3 months: Communicates pleasure
6 months: Curious and engaged with people
9 months: They become cautious and apprehensive with strangers
12 months: Engages with others by pointing and handing objects. Waves bye bye. Claps hands.
What are the personal and social milestones after one year?
18 months: Imitates activities such as using a phone
2 years: Extends interest to others beyond parents, such as waving to strangers. Plays next to but not necessarily with other children (parallel play). Usually dry by day.
3 years: They will seek out other children and plays with them. Bowel control.
4 years: Has best friend. Dry by night. Dresses self. Imaginative play.
What are the red flag developmental milestones?
- Not able to hold an object at 5 months
- Not sitting unsupported at 12 months
- Not standing independently at 18 months
- Not walking at 2 years
- Not running at 2.5 years
- No words at 18 months
- No interest in others at 18 months
What are febrile convulsions?
A type of seizure that occurs in children with a high fever
Between what ages can febrile convulsions occur?
6 months to 5 years
What is a simple febrile convulsion?
Simple febrile convulsions are generalised, tonic clonic seizures. They last less than 15 minutes and only occur once during a single febrile illness.
What is a complex febrile convulsion?
as complex when they consist of partial or focal seizures, last more than 15 minutes or occur multiple times during the same febrile illness.
What is needed to diagnose a febrile convulsion?
Rule out differentials:
- pilepsy
- Meningitis, encephalitis or another neurological infection such as cerebral malaria
- Intracranial space occupying lesions, for example brain tumours or intracranial haemorrhage
- Syncopal episode
- Electrolyte abnormalities
- Trauma (always think about non accidental injury)
What is the management for a febrile convulsion?
- Stay with the child
- Put the child in a safe place, for example on a carpeted floor with a pillow under their head
- Place them in the recovery position and away from potential sources of injury
- Don’t put anything in their mouth
- Call an ambulance if the seizure lasts more than 5 minutes
What is the risk of developing epilepsy if you have a febrile convulsion?
1.8% for the general population
2-7.5% after a simple febrile convulsion
10-20% after a complex febrile convulsion
What is a seizure?
A paroxysmal alteration of neurological function as a result of excessive hypersynchronous discharge of neurons within the brain
What is epilepsy?
A neurological disorder characterised by an increased tendency to have recurrent seizures that are idiopathic and unprovoked.
(>2 episodes more than 24hrs apart)
What are the different causes of seizures?
VITAMIN DE
- Vascular
- Infection
- Trauma
- Autoimmune- SLE
- Metabolic
- Idiopathic
- Neoplasms
- Dementia and drugs (cocaine)
- Eclampsia
What are the causes of epilepsy?
- Genetic
- Structural
- Metabolic- visible neurological abnormalities that predisposeto seizures (e.g. chronic cerebrovascular disease, congenital malformation)
- Immune
- Infectious- a chronic one e.g HIV
- Unknown
What happens in the brain during a seizure?
- Clusters of neurons in the brain become temporarily impaired and start sending put lots of excitatory signals (said to be paroxysmal which means rapid onset). Happen either due to too much excitation glutamate or nor enough inhibition GABA
- It is often noticed by obvious outward signs like jerking, moving and losing consciousness but can also be subjective and only noticed by the person experiencing it like fears or strange smells
What are the different types of seizure?
- Generalised:when both hemispheres are affected always a loss of consciousness
- Focal : when the affected area is limited to one half of the brain or sometimes even smaller like a single lobe can progress to bilateral
What are the different subtypes of generalised seizure?
- Tonic
- Atonic
- Clonic
- Tonic-clonic
- Myoclonic
- Absence
What are the two types of focal seizure?
Simple (without impaired awareness)
Complex (with impaired awareness)
What are the general clinical manifestations of seizures?
-
Prodromal phase:
- Confusion, irritability or mood disturbances
-
Early-ictal phase:
- Aura: warning felt before a seizure. These can include sensory, cognitive, emotional or behaviour changes.
-
Ictal phase:
- Will vary depending on seizure type
-
Post-ictal phase:
- Confused, drowsy and irritable during recovery
What is a tonic, clonic and tonic-clonic seizure?
- Tonic seizure: the muscles become stiff and flexed which will cause the patients to fall backwards
- Clonic seizures: violent muscle contractions (convulsions)
Tonic-clonic: there is loss of consciousness and tonic (muscle tensing) and clonic (muscle jerking episodes). Typically the tonic phase comes before the clonic phase. (tongue biting, incontinence, groaning and irregular breathing.
After the seizure there is a prolongedpost-ictal periodwhere the person is confused, drowsy and feels irritable or depressed.
What is the management for a tonic-clonic seizure?
First line: sodium valproate
Second line: Lamotrigine or carbamazepine
What is an Atonic seizure?
Known as drop attacks. This is where the muscles suddenly relax and become floppy which can cause the patient to fall usually forward.
They don’t usually last longer than 3 minuets. They typically begin in childhood. They may be indicative ofLennox-Gastaut syndrome.
What is the management for an Atonic seizure?
First line: sodium valproate
Second line: Lamotrigine
What is a myoclonic seizure?
- They present as sudden brief muscle contractions like a sudden jump. The patient usually remains awake during the episode.
- They occur in various forms of epilepsy but typically happen in children as part of juvenile myoclonic epilepsy.
What is the management for a myoclonic seizure?
First line: sodium valproate
Other options: lamotrigine, levetiracetam or topiramate
What is an absence seizure?
- 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.
- Common in children. Most patients (> 90%) stop having absence seizures as they get older.
What is the management for a absence seizure?
First line: sodium valproate or ethosuximide
What are infertile spasms?
Known as West syndrome. It is a rare (1 in 4000) disorder starting in infancy at around 6 months of age. It is characterised by clusters of full body spasms. There is a poor prognosis: 1/3 die by age 25, however 1/3 are seizure free.
What is the management for infertile/west syndrome seizures?
Prednisolone
Vigabatrin
What is a simple focal seizure (focal aware seizure)?
- No loss of consciousness
- The patient is aware and awake
- Will have uncontrollable muscle jerking
What is a complex focal seizure (focal impaired awareness seizure)?
- There is loss of consciousness
- Patient is unaware
What is the most common region of the brain affected in a focal seizure?
Temporal lobe
What are the features of a temporal lobe seizure?
They affect hearing, speech, memory and emotions:
- Hallucinations
- Memory flashbacks
- Déjà vu
- Doing strange things on autopilot
Can also include audio symptoms such as buzzing, ringing and vertigo
What are the features of a frontal lobe seizure?
- Motor symptoms: pelvic thrusting, bicycling and tonic posturing
- Bizarre behaviour
- Vocalisations
- Sexual automatisms
What are the features of a parietal focal seizure?
- Paraesthesia
- Visual hallucinations
- Visual illusions
More subjective and difficult to diagnose than other areas
What are the features of a Occipital focal seizure?
- Visual hallucinations
- Transient blindness
- Rapid and forced blinking
- Movement of head or eyes to the opposite side
What is required for a diagnosis of epilepsy?
- Must have had 2 or more seizures more than 24 hours apart
- MRI/CT: examine the hippocampus look for underlying cause
- EEG: 3H2 wave absence
- Bloods: rule out metabolic/infection
What is the treatment for a focal seziure?
Opposite to generalised:
First line: Carbamazepine
Second line: sodium valproate
How does sodium valproate work and what are the side effects of it?
It works by increasing the activity of GABA which has a relaxing effect on the brain:
- Teratogenic don’t give to females of child bearing age
- Liver damage
- Hair loss
- Tremor
How does carbamazepine work and what are the die effects of it?
-
Carbamazepine
- Sodium channel blocker; prevents repetitive and sustained firing of action potentials.
- Agranulocytosis
- Aplastic anaemia
- Induces the P450 system so there are many drug interactions
What is the medical emergency associated with epilepsy?
Status Epilepticus
How do you treat status Status Epilepticus?
ABCDE
Give IV lorazepam 4mg and repeat 10 minuets after if it doesn’t work
If seizure persist then give IV phenobarbital or phenytoin
Outline what is meant by primary and secondary epilepsy
Primary - also known as genetic or idiopathic epilepsy
occur in an otherwise normal person and are due to a genetic predisposition to seizures.
Secondary - due to an underlying abnormality of the brain structure or chemistry formerly called symptomatic epilepsy
What are infantile spasms? When are they most common and what is seen in them?
hese 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 triad seen in West syndrome?
Infantile spasms: These are brief, sudden, and symmetric muscle contractions, typically involving the neck, trunk, and limbs.
Hypsarrhythmia: This refers to a specific pattern seen on electroencephalogram (EEG) recordings. Hypsarrhythmia is often present in infants with West syndrome, but it’s not exclusive to this condition.
Developmental regression or delay
Treat with: Vigabatrin and prednisolone
Eyes will always be open
What is a reflex anoxic seizure?
- Triggered by strong emotion or pain
- Results in reduced perfusion of the brain
- EEG will be normal
- Do ECG
- Most will grow out of it
According to the DSM-5, what is the diagnostic criteria for anorexia nervosa?
A. Restriction of energy intake relative to requirements, leading to a significant low body weight in the context of the age, sex, developmental trajectory, and physical health (less than minimally normal/expected)
B. Intense fear of gaining weight or becoming fat or persistent behaviour that interferes with weight gain.
C. Disturbed by one’s body weight or shape, self-worth influenced by body weight or shape, or persistent lack of recognition of seriousness of low bodyweight.
What are some causes/risk factors for getting anorexia?
Social pressure
Perfectionist character traits
Reversing or halting effects of puberty
Some genetic links
Depression may be a trigger for binges.
Low self-esteem
Occupation and interest (e.g. ballet dancers)
Anxiety disorders
Past or present events:
life difficulties
sexual abuse
physical illness
upsetting events - a death or the break-up of a relationship
important events - marriage or leaving home.
outline the scoff screening questions for food disorders.
do you make yourself Sick because you’re uncomfortably full?
do you worry that you’ve lost Control over how much you eat?
have you recently lost more than 6 kilograms (aboutOne stone) in three months?
do you believe you’re Fat when others say you’re thin?
would you say that Food dominates your life?
What are some clinical signs of anorexia
Dry skin
Lanugo hair - ”peach fuzz” hair on face and trunk
Orange skin and palms
Cold hands and feet
Bradycardia
Drop in BP on standing - or increased fainting
Oedema
Week proximal muscles - squat test
Describe the treatment for anorexia
CBT
Interpersonal therapy
Food diary and regular eating programme – re-establish control of diet, address underlying abnormal cognitions
SSRIs – best one to use is fluoxetine
Outline what is seen in Bulimia Nervosa
the people have a normal body weight, that tends to flucuate
Condition involves binge eating, followed by Purging - inducing vomiting or taking laxatives to prevent the calories being absorbed.
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.
Outlien some common causes of fear/aneitxy for kids of different ages
9 months - 3 years Separation from caregivers, sudden movements, loud noised
3-6 years, animals, dark, monsters
6-12 performance anxiety
12-18 - social anxiety
18 and above - death, illness
What is the most common aniexty disorder for kids under 10? What is needed for diagnosis and what can make it worse
Separation aneixty
Symptoms must persist for more than 4 weeks
Having an ill parent can make it worse
What are some features/reasons of self harm?
Act with intent to hurt self
Includes cutting, burning with ice, hitting self and overdose
No intention to kill self
Associated with suicidal ideas therefore check
May want to release tension, make self feel, others to see distress, subcultural
What are some features/reasons of a suicide attempt?
Act with intent to kill self
Includes overdose, attempted hanging,
Intention includes desire to be dead
Importance to assess severity and whether ongoing
What are some prompts that you should admit some to hospital due to Anorexia Nervosa?
Significant weight Loss
a BMI of less than 70% of the median for your age
Resting bradycardia < 50 bpm
Postural tachycardia > 35 bp
Postural drop in systolic BP > 20
Hypothermia < 35.5 degrees
Severe Abdominal pain
Escalating parental Concern - generally very good guide – usually had months of struggling before presenting to hospital and they have witnessed a significant deterioration in functioning prompting presentation to medical services
The Rapidity of the weight loss is as important as its degree in determining risk
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
What is refeeding syndrome
medical complications that result from fluid and electrolyte shifts as a result of aggressive nutritional rehabilitation
Metabolism in the cells and organs dramatically slows during prolonged periods of malnutrition. As the starved cells start to process glucose, protein and fats again they use up magnesium, potassium and phosphorus. This leads to:
Hypomagnesaemia
Hypokalaemia
Hypophosphataemia
These patients are also at risk of cardiac arrhythmias, heart failure and fluid overload.
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
What is it called when a boy has undescended testes?
Cryptorchidism
What are the risk factors for undescended testes?
- FH
- Low birth weight
- Small for gestational age
- Prematurity
- Maternal smoking
What is the management for undescended testes?
most cases the testes will descend in the first 3 – 6 months.
If they have not descended by 6 months they should be seen by a paediatric urologist. Orchidopexy (surgical correction of undescended testes) should be carried out between 6 and 12 months of age.
What are the risks of having undescended testes?
- Testicular torsion
- Infertility
- Testicular cancer
What is a testicular torsion?
It is the twisting of the spermatic cord with rotation of the tentacle (was autocorrect but thought it’s funny, I’m getting really bored)
What are the risk factors for a testicular torsion?
- Young age
- Bell clapper deformity (what a great name this is for a deformity of the testicle). It’s when the testicle is high riding and it’s horizontal
- Cryptorchidism
- Trauma
What are the signs of a testicular torsion?
- Abnormal lie
- Prehn’s negative pain is not relieved on lifting the ipsilateral testicle
- Absent cremasteric reflex
What are the symptoms of a testicular torsion
- Awful debilitating pain imagine what it would feel like for your testicle to be twisted round and round like a big knot.
- Pain can be intermittent and be brought on by exercise
- Nausea and vomiting
How would you investigate a testicular torsion?
- Imaging should not be considered if testicular torsion is suspected as it will delay surgery! Think of how much pain the poor man must be in don’t wait give him blood back to his testicle
- Surgical exploration: should be performed immediately if there is high clinical suspicion as it allows definitive diagnosis and management. Should be performed within 6 hours to prevent irreversible damage (90% salvageable at 6 hours and 10% salvageable at ≥24 hours)
What are the treatment options for a testicular torsion?
- Bilateral orchiopexy if the testicle is viable. This involves untwisting the testicle and fixing it to scrotal sac. Contralateral one should be fixed as well
- Ipsilateral orchiectomy and contralateral orchiopexy if the testicle is not viable : removal of the affected testis and fixation of the contralateral testis to the scrotal sac to prevent contralateral torsion
What are the complications of a testicular torsion?
- Infertility/ subfertility: torsion for 10-12 hours results in ischaemia and irreversible damage. Orchiectomy results in decreased spermatogenesis
- Pubertal delay:may occur, particularly if bilateral orchiectomy is performed; hormone replacement may be required
What is the prognosis for a testicular torsion?
- Within4-6 hoursof symptoms, the testis can be saved in the majority of cases
- A delay of10-12 hoursor more results in irreversible ischaemia and necrosis
- The testis is salvageable<10% ofcases at≥24 hours
What is precious puberty?
The onset of secondary sexual characteristics before 8 as a girl and 9 as a boy
What are the two types of precocious puberty?
- Gonadotrophin dependant- premature activation of the hypothalamic-pituitary-gonadal axis
The sequence of pubertal development would be normal 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 some causes of gonadotrophin dependant precocious puberty?
- Central malformation or damage: Hydrocephalus, neurofibromatosis
- Acquired: post sepsis, surgery, radiotherapy, trauma
- Brain tumour
What are some causes of gonadotrophin independent precocious
- Congenital adrenal hyperplasia
- Exogenous sex steroids
- Gonadal tumour
- Hypothyroidism
- McCune Albright syndrome- polyostotic fibrous dysplasia
What are some consequences of early puberty?
- Short stature : early onset of puberty means a child loses 2-3 years of typical growth-hormone-dependant growth
Psychological disturbance: child treated as older than their age, deprived of their childhood.
Early menarche: particularly a practical consideration with onset in primary school-age – children where the school isn’t set up for it.
Safeguarding concerns of early development, particularly in vulnerable special educational needs children
How do you treat precocious puberty?
GnRH super-agonists can be given to suppress secretion
Continuous exposure to an agonist such as leuprorelin for several weeks causes pituitary GnRH receptors to become desensitised and no longer responsive, as release needs to be pulsatile
Detect and treat underlying pathology eg MRI scans to find tumour
Reduce rate of skeletal maturation
What are the two types of congenital hypothyroidism?
Thyroid dysgenesis is a developmental abnormality of the thyroid gland. Either it doesn’t develop at all or is poorly formed
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 is the name of the test that can pick up congenital hypothyroidism?
New born blood spot= Guthrie test
- CF
- Congenital hypothyroidism
- Sickle cell disease
6 metabolic diseases e.g. MCADD, phenylketonuria and maple syrup disease etc.
What are some signs and symptoms of congenital hypothyroidism?
- Feeding difficulties
- Lethargy and increased sleeping
- Constipation
- Prolonged jaundice
- Hoarse cry
Describe puberty in girls
- Starts from 8-14 and takes about 4 years to finish
- Development of breast buds
- Pubic hair
- Periods- occurs around 2 years after puberty begins
Describe puberty in boys
9 – 15 in boys. It takes about 4 years from start to finish. Girls have their pubertal growth spurt earlier in puberty than boys.
- Enlargement of testicles
- Penis enlargement
- Darkening of scrotum
- Pubic hair
- Deepening of voice
What is used to determine the pubertal stage?
Tanner staging
What is hypogonadism?
Refers to a lack of sex hormones e.g. oestrogen and testosterone that normally rise prior to puberty
What are the two causes of hypogonadism?
Hypogonadotropic hypogonadism: a deficiency of LH and FSH
Hypergonadotropic hypogonadism: a lack of response to LH and FSH by the gonads (the testes and ovaries)
What is hypogonadotropic hypogonadism?
Where there is a deficiency of LH and FSH leading to a lack of sex hormones.
This means there is nothing stimulating the gonads and they do not respond by producing sex hormones
What can cause Hypogonadotropic Hypogonadism?
- Previous damage to the hypothalamus or pituitary
- GH deficiency
- Hypothyroidism
- Hyperprolactinaemia
- Serious chronic conditions
- Excessive eating or dieting
- Kallman syndrome
What is Hypergonadotropic Hypogonadism?
Hypergonadotropic hypogonadism is where the gonads fail to respond to stimulation from the gonadotrophins (LH and FSH).
There is no negative feedback from the sex hormones (testosterone and oestrogen), therefore the anterior pituitary produces increasing amounts of LH and FSH to try harder to stimulate the gonads. Therefore, you get high gonadotrophins (“hypergonadotropic”) and low sex hormones (“hypogonadism”).
What are the causes of Hypergonadotropic Hypogonadism?
- Previous damage to the gonads
- Congenital absence of the gonads
- Klinefelter’s syndrome (XXXY)
- Turner’s syndrome (XO)
What is 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).
What inheritance pattern is seen in Kallman syndrome?
X linked recessive or dominant.
What are the initial investigations done there if no evidence of pubertal changes by 13 in girls and 14 in boys?
Full blood count and ferritin for anaemia
U&E for chronic kidney disease
Anti-TTG or anti-EMA antibodies for coeliac disease
What are the hormonal tests done if no evidence of pubertal changes by 13 in girls and 14 in boys?
- Early morning FSH and LH
- Thyroid function tests
- Growth hormone testing : Insulin like growth factor 1 is often tested
- Serum prolactin
What imaging can be done if someone hasn’t gone through puberty?
- X-ray of the wrists to assess bone age and inform a diagnosis of constitutional delay
- Pelvic ultrasound
- MRI of brain and assess the olfactory bulbs in Kallman syndrome
What is cogenital adrenal hyperplasia?
A deficiency of the 21 hydroxylase enzyme. This causes underproduction of cortisol and aldosterone and overproduction of androgens
What is the inheritance pattern of CAH?
Autosomal recessive
What is the pathophysiology of CAH?
21 hydroxylase is an enzyme that is used to convert progesterone into aldosterone and cortisol.
Progesterone can also be converted to testosterone but doesn’t require 21 hydroxylase
Therefore due to a deficiency in this enzyme there is extra progesterone that cannot be converted into aldosterone or cortisol and it gets converted into testosterone instead
What is the presentation of CAH in severe cases?
Female patients are born with virilised/ambiguous genitalia and an enlarged clitoris due to high testosterone
They will also present after birth with hyponatraemia hyperkalaemia and hypoglycaemia
Which will give symptoms of:
- Poor feeding
- Vomiting
- Dehydration
- Arrhythmias
What is the presentation of CAH in mild cases in female patients?
- Tall for age
- Facial hair
- Absent periods
- Deep voice
- Early puberty
What is the presentation in mild cases in men with CAH?
- Tall for their age
- Deep voice
- Large penis
- Small testicles
- Early puberty
What is a clue that someone might have CAH?
Skin hyperpigmentation
Hyperpigmentation occurs because the anterior pituitary gland responds to the low levels of cortisol by producing increasing amounts of ACTH. A by product of the production of ACTH is melanocyte simulating hormone. This hormone stimulates the production of melanin (pigment) within skin cells.
What is the cortisol replacement used in CAH?
Hydrocortisone
What is the aldosterone replacement used in CAH?
Fludrocortisone
What is androgen insensitivity syndrome?
Where cells are unable to respond to androgen hormones due to a lack of receptors
What is the inheritance pattern of androgen insensitivity syndrome?
It is X-linked recessive. Therefore patients are genetically male
What is the pathophysiology of androgen insensitivity syndrome?
Due to receptors not responding to testosterone extra androgens are converted into oestrogen
This results in a female phenotype.
However the patients will have testes in the abdomen or inguinal canal and the absence of a uterus, upper vagina, cervix, fallopian tubes and ovaries.
The female internal organs do not develop because the testes produce anti-Mullerian hormone
Patients will be infertile and there is an increased risk of testicular cancer if they are not removed
What is the presentation of androgen insensitivity syndrome?
Can present in infancy with inguinal hernias containing testes but can also present with primary amenorrhoea
Hormone tests will show:
- Raised LH
- Normal FSH
- Raised/normal testosterone
- Raised oestrogen (for a man)
What is the management of androgen insensitivity syndrome?
Bilateral orchidectomy (removal of the testes) to avoid testicular tumours
Oestrogen therapy
Vaginal dilators or vaginal surgery can be used to create an adequate vaginal length
Generally, patients are raised as female, but this is sensitive and tailored to the individual.
What are the 4 main categories of child abuse?
- Physical injury
- Sexual abuse
- Emotional abuse
- Neglect
How does child abuse present?
- Disclosure.
- Injury observed e.g. at school.
- Incidental findings.
What is ketoacidosis?
When the cells in the body have no fuel they think they are starving, they initiate the process of ketogenesis so they have usable fuel.
Over time the glucose and ketone levels get higher, initially the kidneys produce bicarbonate to buffer the ketone acids and maintain a normal PH.
However overtime the ketone acids use up the bicarbonate and the blood starts to become acidic
How does diabetes cause dehydration?
Hyperglycaemia overwhelms the kidneys and glucose starts being filtered into the urine. The glucose in the urine draws water out with it in a process called osmotic diuresis. This causes the patient to urinate a lot (polyuria). This results in severe dehydration.
The dehydration stimulates the thirst centre to tell the patient to drink lots of water. This excessive thirst is called polydipsia.
How does diabetes cause a potassium imbalance?
Insulin normally drive potassium into the cells. Without insulin it is not added and stored in the cells.
This means serum potassium can be high in DKA but can also be normal due to being excreted by the kidneys.
However overall potassium is low in the body, So when treatment starts patients can develop severe hypokalaemia which can lead to fatal arrhythmias
What is the first priority in DKA treatment?
the priority is fluid resuscitation to correct the dehydration, electrolyte disturbance and acidosis.
This is followed by an insulin infusion to allow the cells to start taking up and using glucose and stop producing ketones.
What are the principles of DKA management in children?
Correct dehydration evenly over 48 hours. This will correct the dehydration and dilute the hyperglycaemia and the ketones. Correcting it faster increases the risk of cerebral oedema.
(Give a fluid bolus of 500 mL of normal saline (0.9% sodium chloride) over 10 to 15 minutes if the initial systolic blood pressure (SBP) is <90 mmHg.)
10ml per Kilo
Give a fixed rate insulin infusion. This allows cells to start using glucose again. This in turn switches off the production of ketones.
What is another complication of DKA in children?
Cerebral oedema
This is because dehydration and high blood sugar concentration cause water to move from the intracellular space into the extra
This causes the brain cells to shrink and become dehydrated.
Rapid correction of this dehydration and hyperglycaemia can cause a rapid shift which causes the brain to swell and become oedematous leading to brain cell destruction and death
What is the management for cerebral oedema?
Neurological observations (i.e. GCS) should be monitored very closely (e.g. hourly) to look for signs of cerebral oedema. Be concerned when patients being treated for diabetic ketoacidosis develop headaches, altered behaviour, bradycardia or changes to consciousness.
Management options for cerebral oedema are slowing IV fluids, IV mannitol and IV hypertonic saline. These should be guided by an experienced paediatrician.
What are the most common type of brain tumours in childreen?
Astrocytoma- they make up 40%
What are some other types of brain cancers in children?
Medulloblastoma (~20%) – arises in the midline of the posterior fossa. 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.
- Brainstem glioma (6%) – malignant tumours
associated with a very poor prognosis. - Craniopharyngioma (4%) – a developmental
tumour arising from the squamous remnant of
Rathke pouch. It is not truly malignant but is
locally invasive and grows slowly in the suprasellar region.
Are brain tumours in children usually metastatic or primary?
Primary: they are the most common form of solid tumour in children and are the leading cause of childhood cancer death
What is the presentation of a brain tumour in a young child/adolescent?
- Recurrent headache
- Blurred or double vision
- Lethargy
- Deteriorating school performance
- Delayed or arrested puberty
What is the presentation of a brain tumour in a infant?
- Developmental delay
- Progressive increased in head circumference
- Bulging fontanelle
- Lethargy
What are some general presentations of brain tumours?
Persistent or recurrent vomiting
Problems with balance, coordination or walking
Behavioural change
Abnormal eye movements
Seizures (without fever)
Abnormal head position–wry neck, head tilt or
persistent stiff neck
What is the supratentorial tumour found in the cortex?
Astrocytoma
What brain tumour is found in the midline?
Craniopharyngioma
What are the infratentorial brain tumours?
Cerebellar: medulloblastoma, astrocytoma, ependymoma
Brainstem: brainstem glioma
What are the brain tumours that can metastasise to the spinal cord?
Astrocytoma and ependymoma
What are the symptoms of a supratentorial astrocytoma?
- Seizures
- Hemiplegia
- focal neurological signs
have poor survival rates
What are the symptoms of a midline tumour (craniopharyngioma)?
- Visual field loss
- Pituitary failure
have good survival rates but risk of long-term visual impairment
What are the symptoms of cerebellar tumour (medulloblastoma)?
- Truncal ataxia
- Coordination difficulties
- Abnormal eye movements
survival rates are improving with 5-year survival about 50%
Other posterior fossa tumours:
Astrocytoma – cystic, slow growing. Good prognosis following surgery.
Ependymoma – behaves like medulloblastoma
What are the symptoms of a brainstem glioma?
- Cranial nerve defects
- Pyramidal tract signs
- Cerebellar signs
- No raised ICP
Management – palliative radiotherapy
Prognosis – very poor (<10% survival)
Name 3 embryological tumours
Wilm’s tumour.
Neuroblastoma.
Rhabdomyosarcoma.
What is a Wilms tumour?
Originates from embryonal renal tissue and is the most common renal tumour of childhood. Over 80% of patients present before 5 years of age
What are some common features of a Wilms tumour?
Abdominal mass
Haematuria
What are some other features of a Wilms tumour?
Abdominal pain
Anorexia
Anaemia
Hypertension
What are the investigations and management for a Wilms tumour?
Ultrasound/MRI is used to show mass
Children will receive initial chemotherapy followed by delayed nephrectomy after which the tumour ins staged histologically
What is a neuroblastoma?
arise from neural crest tissue in the adrenal medulla and sympathetic nervous system.
It is an unusual tumour in that spontaneous regression can sometimes occur in very young infants
What are the common clinical features of a neuroblastoma?
Most children have an abdominal mass but the tumour can lie anywhere along the sympathetic chain from neck to pelvis
- Pallor
- Weight loss
- Abdominal mass
- Hepatomegaly
- Bone pain
- Limp
What is a retinoblastoma?
Retinoblastoma is a malignant tumour of retinal cells
Retinoblastoma susceptibility gene is on chromosome 13
What is the inheritance pattern of a retinoblastoma?
Autosomal dominant but with incomplete penetrance
Can also be sporadic. All bilateral tumours are hereditary, as are
about 20% of unilateral cases
What are the signs of a retinoblastoma?
- Loss of red reflex
- Pain around the eye
- Poor vision
- Squint
What is the treatment of a retinoblastoma?
Laser therapy
What is the most common cancer of the bone?
Osteosarcoma and usually presents in adolescents and younger adults
What is the most common bone for cancer to occur?
The femur.
Also tibia and humorous
What are the signs of osteosarcoma?
Bone pain worse at night time
Bone swelling
What would an X-ray of an osteosarcoma show?
Poorly defined lesion in the bone with destruction of normal bone and a fluffy appearance
What might a blood test show with an osteosarcoma?
Raised ALP
Give differentials for Children with abdominal distension/mass
Hepatoblastoma
Wilms tumour
Neuroblastoma
Lymphoma/leukaemia
Sarcoma
Constipation
Enlarged kidneys – polycystic disease
What is a hepatoblastoma?
A malignant liver cancer composed of tissue resembling Fetal liver cells, mature liver cells or bile duct cells
Outline some classic presentations of children with cancer
Localised masses
Lymphadenopathy
Organomegaly
Bone marrow infiltration - recurrent illness
Airway obstruction from lymphadenopathy
What other presenting features would make you concerned about lymphadenopathy?
Enlarging node without clear infective cause
Persistently enlarged node
Unusual site e.g. supraclavicular
If have associated symptoms and signs
Fever, weight loss, enlarged liver/spleen
If CXR abnormal
What are the most common types of leukaemia in children?
Acute lymphoblastic leukaemia (ALL) is the most common in children
Acute myeloid leukaemia (AML) is the next most common
Chronic myeloid leukaemia (CML) is rare
What are the peak ages for ALL and AML?
ALL 2-3 years
AML under 2 years
Describe the pathophysiology of ALL?
Malignant changes in a lymphocyte precursor cell, causing acute proliferation of a single type of lymphocyte usually B-lymphocytes
This leads them to replacing the other cell types and causes pancytopenia
What are the risk factors for leukaemia?
- Abdominal x-ray during pregnancy
- Down’s syndrome
- Kleinfelter syndrome
- Noonan syndrome
- Fanconi’s anaemia
What are some symptoms of leuakaemia?
- Fever
- Weight loss
- Night sweats
- Pallor
- Petechiae and abdominal bruising
- Abdominal pain
- Generalised lymphadenopathy
- Unexplained or persistent bone or joint pain
- Hepatosplenomegaly
What will investigations show for ALL?
Need FBC within 48 hours
- Will show anaemia, leukopenia, thrombocytopenia and a high number of abnormal WBCs
- Blood film can show: Blast cells
- Bone marrow biopsy: if 20% of cells in sample are lymphoblast this is indicative of ALL
- Lymph node biopsy
What is the treatment for acute myeloid leukaemia and acute lymphoid leukaemia?
Radiotherapy
Bone marrow transplant
Surgery
Also give **allopurinol to prevent tumour lysis syndrome
What is tumour lysis syndrome? What can it lead to?
Tumour lysis syndrome is caused by the release of uric acid from cells that are being destroyed by chemotherapy.
The uric acid can form crystals in the interstitial tissue and tubules of the kidneys and causes acute kidney injury.
What are some complications of chemotherapy?
- Stunted growth and development
- Immunodeficiency and infections
- Neurotoxicity
- Infertility
- Secondary malignancy
- Cardio toxicity
