Paediatrics Flashcards
What are some common viral causes of resp infections?
- RSV (respiratory syncytial virus
- Rhinovirus
- Influenza
- Metapneumovirus
- Adenovirus
What are some common bacterial causes of resp infections?
- Mycoplasma pneumoniae
- Bordetella pertussis
- Moraxella catarrhalis
- Haemophilus Influenza
- Strep Pneumonia
What are some risk factors for resp infections?
- Parental smoking
- Poor socioeconomic status
- Poor nutrition
- Male
- Immunodeficiency
- Underlying condition
Give 3 URTis and state what they can cause.
URTis and what they cause
- Coryza (cold)
- Sore throat (pharyngitis, tonsillitis)
- Acute otitis Media
- Sinusitis
Causes
- Difficulty feeding
- Febrile convulsions
- Asthma exacerbations
What is the Centor Criteria?
Set of Criteria to determine the likelihood of a sore throat being bacterial.
- Tonsillar exudate
- Tender anterior cervical lymphadenopathy
- Fever
- Absence of cough
3+ = Strep infection needing Abx
What is Whooping Cough?
Acute highly contagious resp infection transmitted by resp droplets . Co-infection with RSV is common.
What is the cause of Whooping Cough?
Caused by Bordetella pertussis, gram neg coccobacillus cultured on bordet gengou agar.
How long do symptoms last and what are the two stages of Pertussis?
Symptoms last 6-8 weeks.
Catarrhal stage
Paroxysmal coughing
What are the symptoms in the catarrhal stage?
- Malaise
- Conjunctivitis
- Nasal discharge
- Sore throat
- Dry cough
- Mild fever
What are the symptoms in the paroxysmal coughing stage?
Dry hacking cough that is worse at night and after feeding
Coughing followed by the characteristic whoop - inspiration against the closed epiglottis.
What can be complications of whooping cough?
Post cough – vomiting, apnoea,cyanosis
Subconjunctival haemorrhage/anoxia can be brought on by coughing fits seizures and syncope
What investigations would be appropriate in Whooping cough?
- PCR via nasal swabs
- Lymphocytosis common
- Nasopharyngeal swabs
- Test for anti-pertussis IgG
- Culture is the gold standard.
What is the management of Whooping Cough?
Hospitalised if over 6 months –> risk of apnoea
10-14 days incubation
Marcolides 1st line - Azithromycin or clarithromycin or erythromycin
Erythromycin for pregnant women
Off school for 48 hrs after Abx start
What is Acute Epiglottitis?
Life threatening emergency due to high risk of resp obstruction.
What is the cause of Acute Epiglottitis?
Haemophilus influenza Type B (Hib)
Hib immunisation - 99% reduction in cases, most common in ages 2-7yrs
What are the symptoms of Acute Epiglottitis?
Intense swelling of epiglottis Very acute onset Drooling Stridor High fever Dysphagia and speech difficulty due to pain Minimal cough
What investigations should be ordered for acute epiglottitis?
- Laryngoscopy
- Lateral neck x-ray
- FBC
- Blood cultures/swab of epiglottis.
What should you never do when suspecting an obstruction of the resp tract/acute epigglottits?
Do not upset or cannulate
Do not examine throat with spatula or lie them down.
What is Croup?
Laryngotracheobronchitis.
Mucosal inflammation and increased secretions that affect the airway. Can cause dangerous oedema in the subglottic area which may narrow the trachea.
What are some viral causes of croup?
Parainfluenza 1,2,3 (most common)
RSV
Influenza
Metapneumovirus
Most common in the autumn time – 6 months to 6yrs with a peak incidence at 2yrs.
How does Croup present?
- Barking cough (worse at night)
- Harsh stridor
- Hoarseness
- Preceding nonspecific viral URTI
- Coryza, fever, cough
What are some signs of severe Croup?
- Cyanosis
- Rising HR/RR
- Restlessness
- Altered consciousness
What investigations can diagnose Croup?
Most diagnosed clinically
X-ray signs –> Posterior-anterior view = subglottic narrowing = steeple sign
How should you manage Croup?
CKS recommend giving a single dose of oral dexamethasone (0.15mg/kg) to all children regardless of severity
Prednisolone is an alternative if dexamethasone is not available
Emergency – high flow oxygen + nebulised adrenaline.
When should a child be admitted to hospital?
Should be admitted if they have mod/severe croup. Other factors include if they are less than 6months old or have known upper airway abnormalities.
What is Bacterial Tracheitis?
Inflammation of the Trachea due to a bacterial infection.
How does Bacterial Tracheitis present?
Pseudomembranous croup – uncommon but very similar to severe croup but presents with
High fever Appears toxic Tracheal tenderness Rapidly progressive airway obstruction – can’t be cleared by coughing Severe stridor
What is the cause of Bacterial Tracheitis?
S aureus, strep A, haemophilus
What investigations should be ordered in bacterial tracheitis?
Requires direct vision of exudates or pseudo membranes on trachea
X-ray indicates subglottic narrowing
FBC/WCC/ESR
Blood cultures
How should you treat Bacterial Tracheitis?
Stabilise airway
Treat with IV abx
How would a child with a tracheal obstruction be?
immobile, upright with an open mouth to optimise airway.
What is the common cold?
Viral URT affecting the nose, throat, sinuses and larynx.
What are some symptoms of the common cold?
- Clear/ mucopurulent nasal discharge and blockage
- Coughing
- Headache
- Sneezing
- Fever
- Sore throat.
What are some common pathogens that cause the common cold?
- Rhinoviruses
- Coronaviruses
- RSV
What is the treatment of the common cold?
- Paracetamol
- Ibuprofen
What is the management of Acute Epiglottitis?
IV Abx – fetotaxime
Intubate
Tracheostomy may be needed if complete obstruction
What is Tonsilitis?
Form of pharyngitis where there is intense inflammation of the tonsils with often purulent exudate.
What are the symptoms of Tonsilitis?
- Sore throat/ scratchy voice/ Dysphagia
- White or yellow coating/patches on the tonsils
- Fever
- Red swollen tonsils
- Lymphadenopathy in the neck
- Bad breath
- Stomach ache/headache
Give 2 risk factors of Tonsilitis?
young age and frequent exposure to germs
What are the causes of tonsilitis?
- Group a beta-haemolytic strep
- Contact with infected people
What investigations should you order in tonsilitis?
- Throat culture
- Rapid streptococcal antigen test
- WBC
- Serological testing for streptococci
What is a complication of Tonsilitis?
Quinsy - Peritonsillar abscess
What are the symptoms of Quinsy?
Sore throat, dysphagia, uvula deviation, trismus (lockjaw)
What is Toxoplasmosis?
Disease from infection of toxoplasma gondii parasite.
What are the causes of Toxoplasmosis?
- Infected cat faeces
- Raw Meat
- Mother to child transmission
What are the symptoms of Toxoplasmosis?
Causes microcephaly, fits and sensorineural deafness
Eye infections
Headaches, confusion.
Flu like symptoms in most people –> headache, fever, fatigue, aches
Signs –> Cerebral calcification, microcephaly/hydrocephaly, chorioretinitis, cerebral palsy.
What investigations should be ordered to diagnose toxoplasmosis?
Diagnosed by serology –>95% asymptomatic
How should you treat toxoplasmosis?
Pyrimethamine
Sulphadiazine
Spiramycin
What is Rubella?
Notifiable disease.
An RNA virus (Rubivirus togaviridae) transmitted as droplets with an incubation period of 14-21 days.
Infectious for up to 5 days before and 5 days after start of rash
What is the prodrome/symptoms of Rubella?
- Lethargy
- Low grade fever (less than 38.9)
- Headache
- Mild conjunctivitis
- Anorexia
- Rash
- Aching joints – especially in women.
- Suboccipital lymphadenopathy
What is the rash like?
Initially pink discrete macular rash that coalesce starting behind the ear and face then spreading the entire body.
What are some differential diagnoses of Rubella?
- Contact dermatitis
- Erythema multiforme/drug allergy
- Measles
- Scarlet fever
- Kawasaki disease
What are the diagnostic tests for Rubella?
PCR testing
FBC shows low WBC with increased proportion of Lymphocytes and thrombocytopenia
What is the treatment for Rubella?
Vaccine
Antipyretics for fever
Pregnant women may be given hyperimmune globulin if they continue their pregnancy.
What can Rubella do to the development of a foetus in the following periods?
1-4 weeks
4-8 weeks
8-12 weeks
1-4 weeks - eye anomaly (70%)
4-8 weeks - cardiac abnormality (40%)
8-12 weeks - deafness (30%)
What is Measles?
Notifiable disease
Acute viral infection caused by single stranded RNA morbillivirus from the paramyxovirus family
What is the incubation period of measles?
How long is the person infectious for?
Incubation period of 7-12 days and spread through resp droplets
Infectious from prodrome until 4 days after the rash of measles appear.
What are the risk factors of Measles?
travelling internationally, being unvaccinated, Vit A deficiency (worse complications)
What are the differential diagnoses of Measles?
Rubella, Parvovirus B19, Enterovirus, Scarlet fever
What is the prodrome of Measles?
Days of the 4 C’s - Cough, Coryza, Conjuncitivits, Cranky
+ Koplik’s spot on palate – small red spots each with a bluish white speck in the centre
What is the clinical presentation of measles?
Rash for at least 3 days
Fever for at least one day (often over 40) and at least one of
o Cough
o Corzya
o Conjunctivitis
What is the Measles Rash like?
First seen on forehead, neck and behind ears, spreads to limb/trunk over ¾ days and then fades after 3-4 days and leaves behind brown discolouration.
What is the diagnostic tests for measles?
- Igm + IgG positive
- Salivary swab or serum sample for measles specific immunoglobulin taken within 6 weeks of onset
- RNA detection in salivary swabs
What are some complications of Measles?
More common if <5 yrs or >20 years
Otitis media
Croup/tracheitis
Pneumonia – most common cause of measles death
Encephalitis/pneumonia in older patients
Pregnancy – Increased risk of miscarriage, prematurity and low birth weight.
What is the treatment for Measles?
Paracetamol/ibuprofen and fluids
What is encephalitis?
Inflammation of the Brain.
What are some infective causes of encephalitis?
HSV, Mumps, varicella zoster, rabies, parvovirus, immunocompromised, influenza, TB, Toxoplasmosis, and malaria
What are some of the clinical signs of encephalitis?
- Flu like prodrome
- Reduced consciousness
- Change in behaviour
- Vomiting
- Fits/seizures
- Fever/lethargy
What investigations should you order for encephalitis?
- LP, PCR
- Bloods
- Stool for enteroviruses
- Urine
What does a LP look like in Encephalitis?
- Lymphocytosis
- Raised protein
- Normal glucose
What is the management of Encephalitis?
HSE – Herpes simplex encephalitis – most treatable – acyclovir
What is Kawasaki’s disease?
Idiopathic systemic vasculitis that most commonly effects children between 6 months and 5 years
What is a major complication of Kawasakis disease?
Coronary Artery Aneurysm
What is the Clinical Presentation of Kawasaki’s disease?
MyHEART
Mucosal involvement – inflamed dry lips/strawberry tongue
Hand and feet swelling Eyes – bilateral conjuctivits Lymphadenopathy (cervical) Rash Temp – >5 days of fever
What are the 3 phases of Kawasaki’s disease?
Acute febrile 1-2 weeks
- Fever + 4 of criteria (MyHEART)
Subacute – remission of fever (4-6 weeks)
- Development of Coronary artery aneurysms
Convalescent (6-12 weeks)
- Resolution of clinical signs + normalisation of inflammatory markers
What is the differential diagnosis of Kawasaki’s disease?
- Measles, Rubella, Parvovirus B19
- Infectious mononucleosis/glandular fever
- Scarlet Fever
What investigations should you order for Kawasakis disease?
- Increased ESR + CRP
- WWC
- Platelets
- AST
- A1-Antitrypsin
- Bilirubin
Echo is essential to reveal dilation and aneurysms of coronary arteries.
What is the management of Kawasaki’s disease?
Aspirin
IV immunoglobulins
Treatment is to reduce the risk of aneurysms and thrombosis, follow up echo 6 weeks later to check for aneurysms.
Treatment for permanent inflammation –> Infliximab (anti-TNF)
What is Chicken Pox?
Highly infectious disease caused by varicella zoster (VZV)
What can VZV reactivation cause in adults?
Reaction of VZV leads to herpes zoster (shingles) in the posterior root ganglia.
What are some of the risk factors for chicken pox?
Immunocompromised, Older age, Steroid use, Malignancy
What is the pathophysiology of Chicken Pox?
Virus enters through URT viraemia after 4-6 days
Infective from 4 days prior to rash until all lesions have scabbed (day 5)
Droplet spread - 95% of adults have been infected and immunity is life long
What is the clinical presentation of Chicken Pox?
Temp 38-39
Headache,malaise
Crops of vesicles (itchy)
Vesicles are usually found on the head, neck and trunk, very sparse on the limbs
What is the cycle of a vesicle?
- Macule
- Papule
- Vesicle
- Ulcer
- Crust
In chickenpox what does redness around a lesion indicate?
Redness around the lesion suggests bacterial superinfection
What are some of the differential diagnoses of chicken pox?
Shingles – only one dermatome Patient with vesicles at different stages of evolution in one dermatome distribution
Generalized herpes zoster/simplex
Dermatitis herpetiformis
Impetigo
What are the diagnostic tests for chicken pox?
Clinical – fluorescent antibody tests – for IgM and IgG
What are some complications of chicken pox?
- Pneumonia
- Encephalitis
- Dissemiated haemorrhage chickenpox
- Secondary bacterial infection of the lesions
- Arthritis, nephritis, pancreatitis
What is the appropriate management for Chickenpox?
- Calamine lotion
- Antivaricella – zoister immunoglobulin
- Acyclovir (If severe/at risk of complications)
- Flucloxacillin in bacterial superinfection
- 5 days off school for kids
What is anaphylaxis?
Severe life threatening hypersensitivity reaction of sudden onset
What may anaphylaxis be brought on by?
- Foods
- Insect sting
- Drugs
- Latex
- Exercise
- Inhaled allergens
Nuts is the main cause in adults.
What are the symptoms of anaphylaxis?
Skin reactions – hives, itching and flushed or pale skin.
Hypotension and a weak rapid pulse.
Constriction of airways and a swollen tongue or throat - wheeze and difficulty breathing.
N+V/diarrhoea.
Dizziness or fainting.
What is the management of anaphylaxis?
ABCDE
IM Adrenaline
- Under 6 months – 0.15mg
- 6 months to 6 years – 0.15mg
- 6-12 Years – 0.3mg
- Over 12 years – 0.5mg
Antihistamine Hydrocortisone Salbutamol if wheeze High flow O2 and IV fluids Monitor pulse oximetry, ECG and BP
What investigations could confirm anaphylaxis?
Clinical symptoms + presentation
Serum tryptase levels can remain elevated for up to 12 hrs after an attack.
What investigations can be used to diagnose anaphylaxis?
Clinical symptoms + presentation
Serum tryptase levels can remain elevated for up to 12 hrs after an attack.
What is Scarlet Fever?
Notifiable disease – endotoxin mediated disease arising from a bacterial infection by an erythrogenic toxin producing strain of –> Strep pyogenes – group A haemolytic streptococci
What is the epidemiology of scarlet fever?
87% under 10 years old and unusual under 2 years.
What is the prodrome for scarlet fever?
- Sore throat + tonsillitis
- Fever
- Headache
- Vomiting and abdo pain
- Myalgia
What is the clinical presentation of scarlet fever?
- Strawberry tongue
- Acute onset sore throat and ever then rash 24-48 hours after
- Scarlatiniform rash – typically appears first on chest, axilla and behind ears
o Later on the trunk and legs - Around the mouth (circumoral)
What is the rash like in Scarlet fever?
Red, pin prick blanching rash which is Sandpaper/rough like
What are some differential diagnoses for scarlet fever?
- Other viral exanthema
- Infectious mononucleosis (often cause is ebv)
- Toxic shock syndrome
- Kawasaki disease
What investigations can be diagnostic in scarlet fever?
Clinical features
Throat swab - should be taken but antibiotic treatment not delayed
Antigen detection kits
Strep antibody tests
What are some of the complications caused by scarlet fever?
- Syndehnhams chorea
- Ottits media
- Rheumatic fever
- Glomerulonephritis
What is the treatment for Scarlet Fever?
Penicillin/azithromycin (if allergic) for 10 days then rest fluids para/ibuprofen
Can return to school 24 hours after starting abx.
What is Coxsackie’s disease (Hand foot and mouth)?
Viral illness commonly causing lesions involving the hands, feet, and mouth.
Transmitted faeco-orally.
What is the cause of? Coxsackie’s disease?
Coxsackievirus A16 and Enterovirus 71
What is the epidemiology of Coxsackie’s disease?
Common in infants younger than 10 - outbreak common in nurseries, schools and childcare settings
What is the prodrome of Coxsackie’s disease?
- Fever
- Malaise
- Loss of appetite
- Sore mouth/throat
- Cough
- Abdo pain
What are the mouth lesions like in Coxsackie’s disease?
On buccal mucosa, tongue, or hard palate
Begin as macular lesions that progress to vesicles which then erode
Yellow ulcers surrounded by red haloes
What are the skin lesions like in Coxsackie’s disease?
Palm, soles and between fingers and toes
Erythematous macules but rapidly progress to grey vesicles with an erythematous base
Can also appear on trunk, thighs, buttocks and genitalia
What are some of the differential diagnoses of Coxsackie’s disease?
- Herpes simplex/zoster
- Chicken pox
- Kawasaki’s disease
What are the investigations for diagnosing Coxsackies disease?
- PCR
- Clinical diagnosis
- Swab of lesions
What is the management of Coxsackie’s disease?
- Fluid intake, soft diet + para/ibuprofen
- If mouth is very painful, topic agents e.g. lidocaine oral gel
- Stay off school until better
What is Turner’s syndrome?
Chromosomal disorder affecting 1 in 2500 females, caused by the presence of only one X chromosome or the deletion of the short arm in one of the X chromosomes.
What happens to females with Turners syndrome?
Almost all affected infertile and many girls experience short stature and ovarian failure
What does Turners syndrome increase the risk of?
- CHD
- Renal malformations
- Hearing loss
- Osteoporosis
- Obesity
- Diabetes
- Atherogenic lipid profile
Turners Syndrome
What is the clinical presentation of a newborn?
- Lymphoedema
- Cardiac/renal abnormalities
- Coarctation, absence of kidney
Turners Syndrome
What is the clinical presentation of an infant?
Short stature, webbed neck
Broad chest/widely spaced nipples
Bicuspid aortic valve 15% and coarctation of the aorta 10%
High arched palate
Recurrent otitis media/hearing loss
Behavioural issues
Turners Syndrome
What is the clinical presentation of an adolescent?
- Gonodal dysgenesis
- Absent/incomplete puberty
- Amenorrhoea
- Impaired growth
What AI conditions is Turners syndrome associated with?
Thyroid, Diabetes, Coeliac, Crohns
What are the diagnostic tests for Turners syndrome?
Can be diagnosed by amniocentesis or Chorionic villous sampling
Chromosomal analysis
What is the treatment for Turners Syndrome?
Treat complications and monitor AI associations
Short stature – recombinant Human growth hormone
Oestrogen (12years) to initiate puberty and prevent osteoporosis
What is Prader Willi Syndrome?
First human disorder attributed to genomic imprinting. Usually caused by a deletion in a paternal gene, opposite to Angelman’s.
What are some of the Key Features seen in Prader Willi, what would you expect to see in infancy and in adolescence?
Key Features - hypotonia, hypogonadism, obesity/hyperphagia.
Infant – hypotonia and development delay
Adolescence – obesity, learning and behavioural difficulties especially with food
What is the cause of Prader Willi Syndrome?
Absence of the active Prader Willi gene on the longarm of chromosome 15
—> Deletion in the paternally inherited chromosome 15 (70%) or maternal uniparental disomy 15
What is the infant presentation of Prader Willi Syndrome?
- Usually, blue eyes blond hair
- Hypotonia at birth
- Failure to thrive
- Genital hypoplasia
- Delayed motor milestones
What is the adolescent presentation of Prader Willi Syndrome?
- Hyperphagia – always hungry obesity
- Short stature
- Behavioural issues
- Low IQ
Usually have hyperphagia due to elevated levels of ghrelin
What is the treatment of Prader Willi Syndrome?
- Growth hormone
- Anti-psychotics – olanzapine, haloperidol
- Fluoxetine and SSRI’s are sometimes effective
What is Angelmans syndrome and how is it caused?
Genetic imprinting disorder due to maternal deletion of chromosome 15
Opposite to Prader Willi
What is the clinical presentation of Angelmans syndrome?
- Developmental delay
- Motor milestones delayed
- Speech impairment
- Behavioural signs
- Ataxia
- Strabismus
- Drooling
- Fascination with water
- Epilepsy 90%
- Microcephaly
What are the behavioural signs of angelmans syndrome?
- Short attention span
- Laughter and happiness/excited
- Laughs at most stimuli
- Hand flapping common
- Tendency to pinch/grab/bite
- Fascination with water
What are the facial features of Angelmans syndrome?
- Microcephaly
- Flat occiput
- Prominent mandible
- Wide mouth
- Wide space teeth
- Drooling/tongue thrusting
How is the diagnosis of Angelmans syndrome made?
Chromosomal analysis
V similar to autism
Fluorescence in situ hybridisation (FISH) - detects 80-85% of all deletions
What is the appropriate treatment of Angelmans syndrome?
Behavioural modification programmes Speech therapy Physiotherapy Parental education Anti-convulsant for epilepsy – valproate/clonazepam
What is Sinusitis?
Inflammation of the mucous membranes of the paranasal sinuses.
What is the usual causes of Sinusitis?
Most common infectious agents – Streptococcus pneumoniae, Haemophilus Influenzae and rhinoviruses
What are the features in Sinusitis?
Facial Pain –> typically frontal pressure pain which is worse when bending forward
Nasal discharge – usually thick and purulent
Nasal Obstruction
Pyrexia
How would you normally diagnose Sinusitis?
Normally just clinical examination/features
Allergy testing may be done if the aetiology is believed to be allergies.
Imaging not common but CT will show the sinuses.
What is the appropriate management of Sinusitis and how is most of it managed?
Treat conservatively with mild analgesia like paracetamol +ibuprofen
Intranasal corticosteroids to be considered if symptoms present for over 10 days.
Oral antibiotics not usually required but may be given if severe
o First line – phenoxymethylpenicillin
o Or Co-Amoxiclav if very systemically unwell
Avoid antihistamines as they may thicken secretions
What is Erythema Infectiosum?
Slapped Cheek Syndrome
What are the prodrome symptoms of erythema infectiosum and how long do they last for?
They last around a week:
Mild
Headache rhinitis, sore throat, fever, malaise
Then 1 week of symptom free
What follows the prodrome of Erythema Infectiosum?
7-10 days of no symptoms after prodrome
Classic slapped cheek rash
1-4 days after facial rash, erythematous macular morbilliform rash develops on the limbs
Arthralgia
What is the differential diagnosis of Erythema Infectiosum?
Rubella
Measles
Scarlet fever
EBV
What are some diagnostic tests to diagnose Erythema Infectiosum?
Most is made on clinical grounds – suspect it if biphasic illness and facial rash
Adults 25-50% are asymptomatic.
B19 specific IgM indicates current or recent infection
B19 specific IgG indicates immunity
PCR
What are some complications of Erythema Infectiosum?
Parvovirus B19 suppresses erythropoiesis for about a week so can cause anaemia
Affects pregnant woman and is hard to distinguish between rubella.
What is the management of Erythema Infectiosum in bairns and pregnant women?
Simple Analgesia – paracetamol/ibuprofen –> conservative treatment.
No longer infectious once the rash has developed
Make sure no contact with immunocompromised or pregnant women through prodrome.
Pregnant women
Can affect an unborn baby in the first 20 weeks of pregnancy –> woman should have maternal IgM and IgG checked.
What is Henoch Schonlein Purpura?
HSP is an IgA mediated AI hypersensitivity vasculitis of childhood. It is usually seen in children following an infection –> Affects skin, joint, gut and kidneys
What are some risk factors for HSP?
- Infections (Group A strep, mycoplasma and EBV)
- Vaccinations
- Exposure to allergens, cold, pesticides
- Insect bite
What is the clinical presentation of HSP?
What rash is normal?
Palpable purpuric rash (with localised oedema) over buttocks and extensor surfaces of arms and legs
Fever
Abdo pain/symptoms
Renal involvement – features of IgA nephropathy – haematuria/renal failure.
Polyarthritis
What is the prognosis of HSP?
Usually excellent, HSP is usually a self-limiting condition. 1/3 will relapse.
Relapses usually milder.
Prognosis better if no renal problems.
What is the diagnostic tests involved in HSP?
Clinical features
Urinalysis – protein/haematuria if kidney damage suspected
Raised ESR, Serum IgA, WCC
Anti-streptolysin O titrates increased (36%) – detect group A strep
What is the management of HSP?
Analgesia for arthralgia - Paracetamol
Treatment of nephropathy is generally supportive.
Corticosteroids for severe symptoms like abdo pain/kidney damage
What is Klinefelter’s syndrome?
Associated with karotype 47XXY - the chief genetic cause of hypogonadism
What is the clinical presentation of Klinefelter’s syndrome?
Gynaecomastia Infertility Taller than average Small testes/penis Delayed/absent puberty Less body hair, broader hips, longer legs
What are some things associated with Klinefelter’s syndrome?
psychosocial issues, learning disability, AI disease, osteoporosis, Decreased sexual maturation
Lifespan is normal - arm span may be longer than normal length.
What is the management of Klinefelter’s syndrome?
- Androgen therapy
- Mastectomy – gynaecomastia
What is Impetigo?
Superficial bacterial skin infection
What are the clinical features of impetigo?
Fever
Very contagious and Incubation period is 4-10 days
Well defined lesions starting around nose and face with honey/golden coloured crusts on erythematous base
What are the causes of Impetigo?
Primary infection - Staph aureus or Strep pyogenes
Can also be a complication of an existing condition – eczema, scabies or insect bites.
How can you diagnose Impetigo?
Usually clinical features
Can swab the exudate of a moist or deroofed blister for culture
What is the appropriate management of Impetigo?
First line NICE – Hydrogen peroxide 1% cream for those not systematically unwell or at high risk of complications
If unsuitable abx - short course for 5 days.
Topical antibiotic creams – Topical Fusidic acid or mupirocin if resistance is suspected
Severe disease – oral flucloxacillin or erythromycin if penicillin allergic
How long should a person be excluded from school with impetigo?
Children should be excluded from school until lesions are crusted and healed or 48 hrs after Abx treatment has started.
What is Down Syndrome?
A genetic condition caused by Trisomy 21. It causes a large amount of systemic complications and has several characteristic facial features.
What are two risk factors for Down Syndrome?
Family history
Older maternal age- >40 increases risk of non-disjunction
What Facial Features are associated with Down Syndrome?
- Epicanthic folds
- Protruding tongue
- Small low set ears
- Flat occiput + facial profile
- High arched palate
What are some of the Complications associated with Down Syndrome?
Think
GI Eyes Cardio Ears Orthopaedic Endocrine Neuro Haematological
Cardio – VSD/TOF (40/50%)
GI – Atresia’s, Hirschsprung’s, pyloric stenosis, Meckel’s diverticulum
Eyes – Brushfield spots, cataracts, nystagmus, strabismus
Ears – 90% have hearing loss – sensorineural and conducive
Orthopaedic – Hypotonia, short stature, single palmar crease, sandal gap deformity
Endocrine - hypothyroid
Neuro – Learning difficulties, low IQ, seizures, dementia (Alzheimer’s)
Haematological – 12x greater risk of infections due to impaired cellular immunity, increase risk of AML, ALL and polycythaemia
Describe the testing for Down Syndrome at:
11-13 weeks
Antenatal testing – Combined test is now standard and is done between 11-13 weeks.
Nuchal Translucency measurement + serum B-HCG + pregnancy associated plasma protein A
Down’s is suggested by – Elevated B-HCG, decreased PAPP-A and thickened nuchal translucency
Trisomy 18 (Edwards) and 13 (Patau) give similar results but PAPP-A tends to be lower.
Describe the testing for Down Syndrome at 15-20 weeks.
If women book later in pregnancy 15-20 weeks then they should be offered the triple/quadruple test
triple test: alpha-fetoprotein, unconjugated oestriol, human chorionic gonadotrophin
quadruple test: alpha-fetoprotein, unconjugated oestriol, human chorionic gonadotrophin and inhibin-A
What is Childhood disability and what are two examples?
Physical or mental impairment preventing them going about their daily life
- Downs
- Cerebral palsy
What are the postural reflexes?
- Parachute
- Positive support
- Landau
- Neck/head righting reflexes
- Lateral propping
What does a persistence of primitive reflexes and lack of postural reflexes indicate?
Hallmark of motor neuron abnormality in the infant.
What are the primitive reflexes?
Primitive reflexes
A Tonic neck reflex
Moro reflex
Landau reflex
Plantar/palmar grasp reflex
Parachute reflex
Positive support reflex
Rooting reflex
Stepping reflex
Trunk incurvation
A M L PPPP R S T
What is the Tonic Neck Flex?
How long does it last for?
Baby supine, turn head to one side and hold jaw on shoulder
Arms/legs the heads turned to will extend and the opposite will flex
Until 6 months
What is the Moro Reflex?
How long does it last for?
Hold baby supine and abruptly lower the body about 2 feet
Arms will abduct/extend, and legs will flex
Lasts until 2 months
What is the Landau reflex?
Suspend baby prone
Head will lift and the spine will straighten
lasts from 0-6 months
What is the Plantar Reflex?
Touch hand/soles and baby will grasp/curl toes.
Until 9-12 months
What is the parachute reflex?
Suspend baby prone and slowly lower the head towards a surface
Arms and legs will extend in a protective fashion
8 months onwards
What is the positive support reflex?
Hold baby upright until feet touch the surface
Hips, knees, and ankles will extend and partially bear weight for 20/30 seconds
0-6 months
What is the sucking and rooting reflex?
Stroke perioral skin at corner of the mouth
Mouth will open and baby will turn head towards stimulus and suck
Until 4 months
What is the stepping reflex and when should it be seen?
- Hold baby upright with one sole on table top
- Hip and knee will flex and other footstep forward
- Birth – variable (6weeks)
What is Trunk Incurvation/galant reflex?
Support baby prone and stroke one side of the back
Spine will curve towards the stimulated side
Lasts 0-2 months.
What is Patau Syndrome?
Severe physical and mental congenital abnormalities due to Trisomy 13
What is the presentation of Patau Syndrome?
Key feature – microcephalic, small eyes, cleft lift/palate, and scalp lesions
- Congenital heart defects
- IUGR and low BW
- Polydactyl and rocker bottom feet
- Severe learning difficulties
- Cleft lip palate
Holoprosencephaly – Brain doesn’t divide into two halves
What are the facial features of Patau Syndrome?
Cleft lip and palate
Hypotelorism (reduced distance between the eyes)
Microphthalmia
What is the prognosis of Patau Syndrome?
- Prognosis is bad – average survival is 2.5 days
- 50% live longer than one week
- 5-10% live longer than one year
What is Steven-Johnson Syndrome?
Severe systemic reaction affecting the skin and mucosa that is almost always caused by a drug reaction.
What are some causative drugs of Steven-Johnsons Syndrome?
Sulphonamides
Allopurinol
Anti-epileptics – Lamotrigine, carbamazepine, phenytoin
Penicillin
NSAIDs
OCP
What is the presentation of Steven-Johnson Syndrome?
Painful erythematous macules, severe mucosal ulceration
Early flu like symptoms – cough, red eyes, sore throat, tender pink skin
Fever
What is the diagnosis of steven-johnson syndrome?
Symptoms + clinical history
Biopsy
What is the appropriate management of Steven-Johnson syndrome?
Triggering medication stopped
Hospitalisation for treatment
Treat the infection
Antihistamines, IVIG or Corticosteroids for hypersensitivity response
Hydration, wound care and analgesia.
What is Edwards syndrome?
Trisomy 18 – 80% are female – severe psychomotor + growth retardation in those that survive the 1st year of life.
What are some risk factors for Edwards syndrome?
- Advancing maternal age
- Family history
- Being female
How can you diagnose Edwards syndrome?
Confirmed by karyotyping
Ultrasound for nuchal translucency
Prenatal sonogram – suggestive is shows polyhydramnios
Serum markers – first trimester – HCG and PAPP-A down
Serum markers – second – AFP and unconjugated estriol down
Inhibin A typically normal or down.
What is the key features of Edwards Syndrome?
micrognathia, low set ears, rocker bottom feet, overlapping of fingers
What are some skeletal abnormalities associated with Edwards syndrome?
- Typical hand feature
- Radial + thumb aplasia
- Short sternum – nipples look widely spread
- Rocker bottom feet -flat feet
- Microcephaly/microstomia
What are some craniofacial abnormalities associated with Edwards Syndrome?
- Odd low set ears
- Micrognathia (small jaw)
- Prominent occiput
What is the typical hand posture in Edwards Syndrome?
- Fingers cannot be extended
- Index overrides middle finger
- 5th finger overriding the 4th finger
What are some further complications that someone with Edwards Syndrome may suffer from?
Think;
GI Cardiac Risk of developing tumours Infection Pulmonary
GI issues – oesophageal Atresia and omphalocele
Congenital heart defects – Septal defects & PDA
Risk of developing wilms tumour (nephroblastoma)
Frequent infections
Breathing problems due to pulmonary hypoplasia
What is Neurofibromatosis?
Neurofibromatosis – AD disorder that encompasses NF1, NF2 and Schwannomatosis
What is NF1, NF2 and Schwannomatosis?
NF1 – More common and caused by a defect to the NF1 gene-skin lesions
NF2 – Central form with CNS tumours rather than skin lesions
- Inherited schwannomas, typically bilaterally, also meningiomas and ependymomas
Schwannomatosis – Recently recognised form, characterised by multiple non cutaneous schwannomas which is a histologically benign nerve sheath tumour
What is the cause of NF1?
Gene mutation on chromosome 17 which encodes neurofibromin
Affects 1 in 4000.
What is the diagnostic criteria of NF1?
2 or more of:
6+ café-au-lait spots (>5mm in kids and >15mm in adults)
2 or more neurofibromas
Freckling of skin folds
Optic glioma
Lisch nodules (clumps of pigment in the eyes)
Boney abnormalities (sphenoid dysplasia – absence of bone around eyes)
Parent or sibling with NF1
What is the clinical presentation of NF1?
- Café-au-lait spots
- Freckling in skin folds
- Neurofibromas
- Lisch nodules
- Short stature and macrocephaly
What are some complications of Neurofibromatosis?
- Mild learning difficulties
- Nerve root compression from neurofibromas
- Increased risk of malignancies e.g. optic glioma
What is the treatment of Neurofibromatosis?
Intervene appropriate where tumours produce pressure symptoms or indicate malignant change - Possible surgery
Physiotherapy
Psychotherapy
What is the cause of Neurofibromatosis type 2?
Gene mutation on chromosome 22 and affects 1 in 100,000
What is the presentation of Neurofibromatosis Type 2?
45% have hearing issues
Schwannomas bilaterally, especially vestibular nerve (cranial/spinal)
Meningiomas/ependymomas
Presents generally in 20s
What investigations can be used to diagnose Neurofibromatosis?
- Examination + symptoms
- Biopsy
- MRI, x-ray and CT scans
- Blood tests – genetic testing
What is Otitis Media?
Infection of the middle ear due to short, horizontal eustachian tubes and mucal discharge almost always from the middle ear.
What is the pathophysiology of Otitis Media?
Viral URTIs precede Otitis Media but most infections are secondary to bacterial infection:
Strep Pneumonaie, Haemophilus Influenzae and Moraxella catarrhalis
Viral URTIs are thought to disturb the nasopharyngeal microbiome, introducing bacteria.
What is the epidemiology of Otitis Media?
Incredibly common in children with around half of children having 3 or more episodes by year 3.
What are the symptoms of Otitis Media?
- Rapid onset ear pain – bulging of the tympanic membrane
- Pyrexia – 50%
- Recent viral URTI symptoms are common
- Otorrhoea – discharge from the ear
What is the biggest cause of hearing loss in bairns?
Otitis media with effusion or glue ear
What is some of the criteria to diagnose Otitis Media?
Acute onset of symptoms – otalgia or ear tugging
Presence of middle ear infection – bulging of tympanic
Inflammation of the tympanic membrane
What are some possible otoscopy findings in Otitis Media?
Bulging tympanic membrane – loss of light reflex
Opacification of erythema of the tympanic membrane
Perforation with purulent otorrhea
Decreased mobility if using a pneumatic otoscope
What is the usual management of Otitis Media?
Usually self limiting
Give analgesia
If criteria met - 5-7 day course of amoxicillin or if allergic - erythromycin or clarithromycin.
What is the criteria for giving antibiotics in Otitis Media?
Symptoms lasting more than 4 days or not improving
Systemically unwell but not requiring admission
Immunocompromise or high risk complications secondary to heart, lung, kidney, liver, NM disease
Younger than 2 years old with bilateral otitis media
Otitis media with perforation/discharge in canal.
What is Toxic Shock Syndrome?
A severe systemic reaction to staphylococcal exotoxins which acts as a super antigen and can cause organ dysfunction can be released from any infection site.
What can cause Toxic shock syndrome?
Staph exotoxins e.g. Staph Aureus
What is the presentation of Toxic Shock Syndrome?
- Dizziness, fainting, Breathing problems
- Flu like symptoms – headache, feeling cold, fatigued, aching body, sore throat
- Fever >39 degrees
- Hypotensive
- Diffuse erythematous, macular rash
Involvement of three or more organ systems e.g. Gastroenteritis, mucous membrane erythema, renal failure, hepatitis, thrombocytopenia, CNS involvement (confusion).
What is the management of Toxic Shock Syndrome?
- Intensive care if severe
- Removal of infection focus e.g. tampon
- IV fluids
- ABX – ceftriaxone + clindamycin
What is Autism?
Neurodevelopmental disorder that includes a range of possible impairments in social interaction, repetitive behaviour, and communication.
The presence of abnormal or impaired development that is manifest before the age of 3
What is the Epidemiology of Autism?
Prevalence 1-2%, ASD is seen 3-4x as much in boys and around 50% have an intellectual disability
What are 3 characteristics of abnormal functioning in autism?
- Reciprocal social interaction
- Impairment of language and communication
- Restricted repetitive behaviour
What are some signs of abnormal functioning in autism?
- Communication problems
- Social interaction issues
- Social imagination issues
- Sensory issues
What are some social interaction issues some children may display?
Overly friendly/shy
Struggles to understand social roles
Often no desire to interact with others
Touches inappropriately, plays alone, poor eye contact, finds it hard to take turns
What are some social imagination issues children may display?
- Struggles with change
- Obsessions/rituals
- Repetitive with play
- Unable to play or write imaginatively
What are some communication difficulties that a child with autism might display?
Repeats speech
Disordered language
Poor non-verbal communication
No social awareness, unable to start up or keep a convo
What are some associated conditions with autism?
- Epilepsy around 20%
- Visual and hearing impairment
- Mental health (ADHD, depression and anxiety)
What are some treatments for autism?
Education and games to encourage social communication
Visual aids and timetables
Parenting workshops and school liaison as well as family support & counselling
What is the pharmacological management of Autism?
Methylphenidate – ADHD
Antipsychotic drugs e.g. risperidone – useful to treat self-injury, aggression
SSRIs – reduce repetitive stereotyped behaviour, anxiety and aggression.
Melatonin for sleep difficulties
What is Asperger’s Syndrome?
Pervasive development disorder which lies within the autistic spectrum
Boys 8:1 girls
How is Asperger’s different to autism?
Lack of delayed cognition and language
Above average intelligence
More likely to seek social interaction and share activities/friendships
What is the clinical presentation of Aspergers?
- Obsessed with complex subjects
- Concrete thinking
- Pedantic
- Normal speech
- Clumsiness
- Solitary but socially aware
- Poor sleep patterns
