Paediatrics Flashcards
What parameters are measured in the combined test?
Nuchal translucency measurement
Serum B-HCG
Pregnancy-associated plasma protein A (PAPP-A)
When is the combined test performed in pregnancy?
11-13+6 weeks.
What parameters are measured in the quadruple test?
Alpha-feto protein.
Serum B-HCG
Unconjugated oestriol
Inhibin A
When is the combined test performed in pregnancy? Why would a combined test not be offered?
If women book later in pregnancy the quadruple test should be offered between 15 - 20 weeks.
What are trisomy 13, 18 and 21 also known as?
Patau syndrome
Edward syndrome
Down syndrome
What would the results be for a combined test be for Down syndrome?
Increased hCG
Decreased PAPP-A
Thickened nuchal transparency
What would the results be for a combined test be for Edward syndrome?
Increased hCG (lower than that of Down syndrome)
Decreased PAPP-A
Thickened nuchal transparency
What would the results be for a combined test be for Patau syndrome?
Increased hCG (lower than that of Down syndrome)
Decreased PAPP-A
Thickened nuchal transparency
What would the results be for a quadruple test be for Down syndrome?
Decreased alpha-feto protein.
Decreased unconjugated oestriol
Increased Serum B-HCG
Increased inhibin A
What would the results be for a quadruple test be for Edwards syndrome?
Decreased alpha-feto protein.
Decreased unconjugated oestriol
Decreased Serum B-HCG
Normal inhibin A
What would the results be for a quadruple test be for Patau syndrome?
Increased alpha-feto protein.
Normal unconjugated oestriol
Normal Serum B-HCG
Normal inhibin A
What would a result of increased hCG , decreased PAPP-A, thickened nuchal transparency indicate for the combined test?
Down syndrome.
What would a result of moderately increased hCG , decreased PAPP-A, thickened nuchal transparency indicate for the combined test?
Edward syndrome or Patau syndrome.
What would a result of decreased alpha-feto protein, decreased unconjugated oestriol, increased Serum B-HCG, increased inhibin A indicate for the quadruple test?
Down Syndrome
What would a result of decreased alpha-feto protein, decreased unconjugated oestriol, decreased Serum B-HCG, increased inhibin A indicate for the quadruple test?
Edwards syndrome.
What would a result of increased alpha-feto protein, normal unconjugated oestriol, normal Serum B-HCG, normal inhibin A indicate for the quadruple test?
Neural tube defects
What are the classical features of croup?
Cough which is barking and seal-like, with symptoms worse at night.
A cough which is barking and seal-like, with symptoms worse at night would indicate what?
Croup
What is the management for croup?
Single dose of oral dexamethasone regardless of severity.
Second line - Prednisolone
What is the emergency management for croup?
High-flow oxygen and nebulised adrenaline
Why would you never perform a throat examination on a child with suspected croup?
Never perform a throat examination on a patient with croup due to risk of airway obstruction
What sign would be seen on a posterior-anterior chest X-ray of a child with croup?
Subglottic narrowing, commonly called the ‘steeple sign’
What sign would be seen on a lateral chest X-ray of a child with croup?
Swelling of the epiglottis - the ‘thumb sign’
What is the main organism that causes croup?
Parainfluenza virus accounts for the majority of cases of croup
When is croup more common in the year?
Autumn
What is the most likely causative organism of bacterial pneumonia in children?
S .pneumoniae
What is the first line management for childhood pneumonia?
Amoxicillin is first-line for all children with pneumonia
What is the second line management for childhood pneumonia if first line fails?
Macrolides may be added if there is no response to first line therapy
What is the management for childhood pneumonia if there is suspected mycoplasma or chlamydia?
Macrolides should be used if mycoplasma or chlamydia is suspected
If childhood pneumonia is associated with influenza, what is the alternative first line management?
In pneumonia associated with influenza, co-amoxiclav is recommended
When should a child be admitted to hospital if they have croup?
Any signs of increased work of breathing
Under 3 months of age
Known upper airway abnormalities
Uncertainty about diagnosis
What are the classical features of bronchiolitis?
A history of poor feeding, cough and fever and the patient’s examination findings such as crackles, wheezing and increased respiratory effort.
A history of poor feeding, cough and fever and the patient’s examination findings such as crackles, wheezing and increased respiratory effort would indicate what?
Bronchiolitis
What is the most common cause of stridor in infants?
Laryngomalacia - due to a floppy epiglottis which folds into the airway on inspiration.
What is the management for laryngomalacia in infants?
This is normally a self-limiting condition, but if the stridor becomes severe with signs of respiratory distress, or if there is failure to thrive (due to poor feeding), then surgery is recommended to improve the airway.
What is the inheritance pattern of Kallman’s syndrome?
X-linked recessive
What is Kallman’s syndrome?
A recognised cause of delayed puberty secondary to hypogonadotropic hypogonadism.
What would the typical presentation be for a patient with Kallman’s syndrome?
Delayed puberty with hypogonadism present.
Anosmia and typically above average height.
A presentation of delayed puberty, with hypogonadism. As well as anosmia and typically above average heigh would most likely indicate what?
Kallman’s syndrome
What signs/symptoms ‘may’ be present in a patient with Kallman’s syndrome?
Cleft lip / palette and visual / hearing defects.
What would you expect to see in a patient’s blood results with Kallman’s syndrome?
Low FSH, low LH, low Testosterone.
Low FSH, low LH, and low testosterone would indicate what?
Kallman’s syndrome
What is the management of Kallman’s syndrome?
Testosterone supplementation
What type of hypersensitivity reaction is asthma?
Type 1 hypersensitivity
Why is diagnosis of asthma in children difficult?
It is common for young children to wheeze when they develop a virus (‘viral-induced wheeze’)
Patient with asthma may also suffer from what conditions?
Other IgE-mediated atopic conditions such as:
Atopic dermatitis (eczema)
Allergic rhinitis (hay fever)
What are asthma patients most likely allergic to? What else will they have?
Aspirin
Will most likely have nasal polyps if this is the case
What are the features of asthma?
Cough - worse at night
Dyspnoea
Expiratory wheeze
Reduced peak expiratory flow rate
What is FEV1?
Forced expiratory volume - volume that has been exhaled at the end of the first second of forced expiration
What is FCV?
Forced vital capacity - volume that has been exhaled after a maximal expiration following a full inspiration
What are the typical spirometry results in asthma?
FEV1 - significantly reduced
FVC - normal
FEV1% (FEV1/FVC) < 70%
What are the investigations for asthma?
Spirometry - First line
Fractional exhaled Nitric Oxide
Chest X-ray (in smokers)
What is the first line management for asthma? What is the side effect?
Salbutamol
Tremor
What type of drug is salbutamol, what is the mechanism of action?
Short-acting-beta agonist (SABA). Relaxing the smooth muscle of airways
What is the additional second line management for asthma?
Inhaled corticosteroids
What is the additional third line management for asthma?
Leukotriene receptor antagonist (LTRA) - Montelukast
Give some examples of inhaled corticosteroids in asthma? What are the side effects?
Beclometasone dipropionate
Fluticasone propionate
Oral candidiasis
Stunted growth in children
What is the fourth-line management for asthma?
Monteleukast - Leukotriene receptor antagonist
What is the fourth-line management for asthma?
Salmetrol
What type of drug is salmetrol, what is the mechanism of action?
Long-acting beta-agonist
They work by relaxing the smooth muscle of airways
What would the assessment of a severe asthma attack show in children?
SpO2 < 92%
PEF - 33-50%
Too breathless to talk or feed
Use of accessory neck muscles
HR - >125 (>5 years), >140 (1-5 years)
RR - >30 (>5 years), >40 (1/5 years)
What would the assessment of a life-threatening asthma attack show in children?
SpO2 <92%
PEF - <33%
Silent chest
Poor respiratory effort
Agitation
Altered consciousness
Cyanosis
What is the management for mild-moderate acute asthma in children?
Beta-2-agonist via a spacer (>3 years use close fitting mask)
1 puff every 30-60 seconds. Max 10 puffs
If no symptom control refer to hospital
Steroid therapy for 3-5 days
2-5 years - 20mg prednisolone OD
>5 years - 30-40mg prednisolone OD
Define bronchiolitis?
Bronchiolitis is a condition characterised by acute bronchiolar inflammation
What is the pathogen which causes bronchiolitis?
Respiratory syncytial virus (80%)
Rhinovirus (20%)
What is the investigation of choice for bronchiolitis?
Immunofluorescence of nasopharyngeal secretions may show RSV
What is the management for bronchiolitis?
If SpO2 persistently >92% - humidified oxygen
Accessory:
NG feeding
Suction of secretions
What would classify a patient as high-risk in bronchiolitis?
Bronchopulmonary dysplasia (e.g. Premature)
Congenital heart disease
Cystic fibrosis
What is the causative agent of acute epiglottitis?
Acute epiglottitis is rare but serious infection caused by Haemophilus influenzae type B
What signs would be shown on an X-ray for acute epiglottitis?
Lateral view - swelling of epiglottis - ‘thumb’ sign
Posterior-anterior view - subglottic narrowing - ‘steeple’ sign
Thumb sign and steeple sign on an X-ray would be suggestive of what?
Acute epiglottitis
What should you not do in acute epiglottitis?
Do NOT examine throat due to risk of acute airway obstruction
Diagnosis is made by direct visualisation but this should only be done by senior staff who are able to intubate if necessary
What is the management for acute epiglottitis?
Oxygen
IV antibiotics - Ceftriaxone
Patient may need intubated
What is the inheritance pattern of cystic fibrosis? What gene is involved?
Autosomal recessive
Cystic fibrosis transmembrane conductance regulator gene (CFTR), which codes a cAMP-regulated chloride channel
What organisms may colonise cystic fibrosis patients?
Staphylococcus aureus
Pseudomonas aeruginosa
Burkholderia cepacia
Aspergillus
What are the features of cystic fibrosis?
Neonatal - Meconium illness, jaundice (20%)
Recurrent chest infection (40%)
Steatorrhoea, failure to thrive (30%)
Liver disease (10%)
What is the diagnostic test for cystic fibrosis?
Guthrie test (‘heel prick) for screening
Sweat test - sweat chloride > 60 mEq/l (normal < 40 mEq/l)
What is the most common cause of a false negative sweat test?
skin oedema, often due to hypoalbuminaemia/ hypoproteinaemia secondary to pancreatic exocrine insufficiency
What is the management for cystic fibrosis?
Lung physiotherapy
High calorie, high fat diet
Vitamin supplementation
Pancreatic enzyme supplements taken with meals
Lung transplant
In what patients is a lung transplant contraindicated for cystic fibrosis?
Chronic infection with Burkholderia cepacia
What are most otitis media infections caused by?
URTI precedes otitis media.
Streptococcus pneumonaie
Haemophilus influenzae
Moraxella catarrhalis
What otoscopy findings would be observed for otitis media?
Bulging tympanic membrane → loss of light reflex
Opacification or erythema of the tympanic membrane
Perforation with purulent otorrhoea
What is the management of otitis media?
Analgesia - NSAIDs and Paracetamol
Antibiotics not routinely offered
What are the exceptions for not giving antibiotics for otitis media?
43210
4: >4days
3: NEWS>3 (systemically unwell)
2: less than 2 + bi(2)laterally
1: (I)mmunocompromised
0 : it looks like a hole (perfOration)
What antibiotic is used for otitis media when indicated?
5-7 days amoxicillin
erythromycin or clarithromycin if allergy
Define glue ear?
Glue ear describes otitis media with an effusion (other terms include serous otitis media)
What is the most common cause of conductive hearing loss?
Glue ear
What is the management for glue ear?
First presentation - watchful waiting for 3 month
Grommets
What are grommets?
Grommets are tiny tubes inserted into thetympanic membraneby an ENT surgeon.
This allows fluid from the middle ear to drain through the tympanic membrane to the ear canal.
Define periorbital cellulitis?
Peri-orbital (also known as pre-septal) cellulitis is inflammation and infection of the superficial eyelid
What organisms cause preorbital cellulitis?
Staphylococcus aureus
Staphylococcus epidermidis
Streptococcusspecies
Define squint (strabismus)?
Squint (strabismus) is characterised by misalignment of the visual axes. Squints may be divided into concomitant (common) and paralytic (rare).
What is concominant squint?
Misalignment of the visual axis due to imbalance in extraocular muscles
Convergent is more common than divergent
What is paralytic squint?
Misalignment of the visual axis due to paralysis of extraocular muscles
What is the management for squint (strabismus)?
Referral to secondary care - eye patches may help prevent amblyopia
What is amblyopia?
The brain fails to fully process inputs from one eye and over time favours the other eye
Define Kleinfelter syndrome?
Klinefelter syndromeoccurs when amalehas anadditional X chromosome, making them47 XXY.
What are the classical features of Kleinfelter syndrome?
Taller height
Wider hips
Gynaecomastia
Small testicles
Reduced libido
Infertility
What are some of the management options for Kleinfelter syndrome?
Testosterone injections
Breast reduction surgery
Define Turner syndrome?
Turner’s syndrome is a chromosomal disorder caused by either the presence of only one sex chromosome (X) or a deletion of the short arm of one of the X chromosomes.
What are the classical features of Turner’s syndrome?
Short stature
Widely spaced nipples
Webbed neck
Bicuspid aortic valve
Coarctation of the aorta
Primary amenorrhoea
What is the most serious long-term health complication of Turner’s syndrome?
Aortic dilatation and dissection
What autoimmune conditions have an increased incidence in Turner’s syndrome?
Autoimune thyroiditis
Crohn’s disease
What type of genetic disease is fragile X syndrome?
Trinucleotide repeat disorder.
CGG repeats
What is the pathophysiology behind fragile X syndrome?
CGG repeat expansions can lead to DNA hypermethylation and cause reduced production of the fragile X mental retardation protein (FMRP), critical for normal brain development
What is the pattern of inheritance of Duchenne muscular dystrophy?
X-linked recessive inherited disorder in the dystrophin genes required for normal muscular function.
What are the classical features of Duchenne muscular dystrophy?
Progressive proximal muscle weakness from 5 years
Calf pseudohypertrophy
Gower’s sign: child uses arms to stand up from a squatted position
30% of patients have intellectual impairment
What are the investigations for Duchenne muscular dystrophy?
Raised creatinine kinase
Genetic testing is GOLD STANDARD
What is Angelman’s syndrome?
Angelman Syndrome is a rare genetic disorder caused by the loss of function of the UBE3A gene which affects normal brain development.
Why are both Angelman’s syndrome and Prader-Willi syndrome considered imprinting disorders?
The paternal copy of the gene is imprinted and usually inactive in the brain so requires a working maternal copy for Asherman’s syndrome.
Prader-Willi syndrome - chromosome 15q11-q13 region is normally paternally inherited as they are inactivated on the maternal chromosome.
What is Noonan syndrome?
Noonan syndrome is an autosomal-dominant inherited disorder which affects the RAS/MAPK pathway
What is William syndrome?
William’s syndrome is an inherited neurodevelopmental disorder caused by a microdeletion on chromosome 7
What are the classic features of William syndrome?
Very sociable personality, the starburst eyes and the wide mouth with a big smile.
What are the associated conditions with William syndrome?
Supravalvular aortic stenosis and hypercalcaemia
Define autism?
A triad of communication impairment + impairment of social relationships + ritualistic behaviour
A triad of communication impairment + impairment of social relationships + ritualistic behaviour would indicate what?
Autism
What is ADHD?
A condition incorporating features relating to inattention and/or hyperactivity/impulsivity that are persistent.
What would some features of inattention be?
Does not follow instructions
Reluctant to engage in mentally-intense tasks
Easily distracted
Finds it difficult to sustain tasks
Finds it difficult to organise tasks or activities
Often forgetful in daily activities
Often loses things necessary for tasks or activities
Often does not seem to listen when spoken to directly
What would some features of hyperactivity be?
Unable to play quietly
Talks excessively
Does not wait their turn easily
Will spontaneously leave their seat when expected to sit
If often ‘on the go’
Often interruptive or intrusive to others
Will answer prematurely, before a question has been finished
Will run and climb in situations where it is not appropriate
What is the first-line management for ADHD?
10 week period of ‘watch and wait’ to observe whether symptoms change or resolve
What are the conditions of providing pharmacological therapy for patients with ADHD?
Used as a last resort, and is only available to those that are aged 5 and over.
What is the first line pharmacological treatment for ADHD in children?
Methylphenidate on a 6 week trial basis
What type of drug is methylphenidate?
It is a CNS stimulant which primarily acts as a dopamine/norepinephrine reuptake inhibitor
What are some side effects of methylphenidate?
Abdominal pain, nausea and dyspepsia.
In children, weight and height should be monitored every 6 months
What are the first line pharmacological agents for ADHD in adults?
Methylphenidate or lisdexamfetamine are first-line options.
Switch between drugs if the other fails
What is the second line pharmacological agent for ADHD in children?
Lisdexamfetamine
What is a third line pharmacological agent for ADHD in children?
Dexamfetamine - only in those who have benefited from lisdexamfetamine, but who can’t tolerate its side effects.
What is a MAJOR side effect of methylphenidate and lisdexamfetamine?
Cardiotoxicity - Perform a baseline ECG before starting treatment, and refer to a cardiologist if there is any significant past medical history or family history, or any doubt or ambiguity.
Is ADHD more common in boys or girls?
Boys by a ratio of 4:1
How many features must a 16 year old have if they are to be diagnosed with ADHD?
Up to 16 years old - 6 features must be present.
How many features must a patient have if they are older than 17 years old, to be diagnosed with ADHD?
Over 17 years old - 5 features must be present.
What is the most common cause of child and adolescent admission to psychiatry wards?
Anorexia nervosa
What is anorexia nervosa?
Anorexia nervosa (AN) is an eating disorder characterised by restriction of caloric intake leading to low body weight, an intense fear of gaining weight, and a body image disturbance
What is first line management for anorexia nervosa in children?
Anorexia focussed family therapy
What is second line management for anorexia nervosa in children?
Individual eating-disorder-focused cognitive behavioural therapy (CBT-ED)
Is first line in adults.
What is bulimia nervosa?
Bulimia nervosa is a type of eating disorder characterised by episodes of binge eating followed by intentional vomiting or other purgative behaviours such as the use of laxatives or diuretics or exercising
What is the management for bulimia nervosa?
Referral for specialist care
Bulimia-nervosa-focused family therapy (FT-BN)
Eating-disorder-focused cognitive behavioural therapy (CBT-ED)
Bulimia-nervosa-focused guided self-help for adults
What pharmacological agent is currently liscensed for bulimia nervosa?
High dose Fluoxetine
What signs may be seen on a patient with bulimia nervosa?
Russel’s sign - calluses on the knuckles or back of the hand due to repeated self induced vomiting
Erosion of teeth
Define acute lymphoblastic leukaemia?
Acute lymphoblastic leukaemia (ALL) is the most common malignancy affecting children and accounts for 80% of childhood leukaemias.
What is the peak incidence age of ALL?
The peak incidence is at around 2-5 years of age.
What are the classical features of ALL?
Anaemia: lethargy and pallor
Neutropaenia: frequent or severe infections
Thrombocytopenia: easy bruising, petechiae
What are the different types of ALL?
Common ALL (75%), CD10 present, pre-B phenotype
T-cell ALL (20%)
B-cell ALL (5%)
What are some management agents for ALL?
Vincristine
Corticosteroids
Anthrayclines
Methotrexate
What is Wilm’s tumour?
Wilms’ tumour aka. nephroblastoma is a specific type of tumour affecting the kidney in children, typically under the age of 5 years
What are the classic features of Wilm’s tumour?
May often present as a mass associated with haematuria
Pyrexia may occur in 50% of patients
Where does Wilm’s tumour often metastasise?
Lungs
What is the management for Wilm’s tumour?
Nephrectomy
Define neuroblastoma?
A malignant tumour arising from the embryological neural crest element of the peripheral sympathetic nervous system
What is the most common site of neuroblastoma?
Neural crest tissue in the adrenal glands
What are some features of neuroblastoma?
Abdominal mass
Pallor, weight loss
Bone pain, limp
Hepatomegaly
What are the investigations for neuroblastoma?
Urinary vanillylmandelic acid (VMA) and homovanillic acid (HVA) levels - both raised
Calcification may be seen on abdominal x-ray
Biopsy
What is retinoblastoma?
Retinoblastoma is the most common ocular malignancy found in children
What is the inheritance pattern of a dysfunctional Rb gene?
Autosomal dominant
What is the pathophysiology behind retineblastoma?
Caused by a loss of function of the retinoblastoma tumour suppressor gene on chromosome 13
What are the possible features of retinoblastoma?
Absence of red-reflex, replaced by a white pupil (leukocoria) - the most common presenting symptom
Strabismus
Visual problems
What are the management options for retinoblastoma?
Enucleation is NOT the only option
Depending on how advanced the tumour is other options include external beam radiation therapy, chemotherapy and photocoagulation
What are the benign bone tumours?
Osteoma
Oestochondroma (exotosis)
Giant cell tumour
Osteoblastoma
What are the malignant bone tumours?
Osteosarcoma
Ewing’s sarcoma
Chondrosarcoma
Define osteoma?
Benign ‘overgrowth’ of bone, most typically occuring on the skull
What is the most common benign bone tumour?
Osteochondroma (exotosis)
Define osteochondroma?
Cartilage-capped bony projection on the external surface of a bone
What is the most common malignant bone tumour?
Osteosarcoma
Define osteosarcoma?
A malignant bone tumour that occurs most frequently in the metaphyseal region of long bones prior to epiphyseal closure, with 40% occuring in the femur, 20% in the tibia, and 10% in the humerus
What would an X-ray of osteosarcoma show?
Codman triangle (from periosteal elevation) and ‘sunburst’ pattern
Codman triangle and ‘sunburst’ pattern on an X-ray would indicate what?
Osteosarcoma
Define Ewing’s sarcoma?
Small round blue cell tumour
Where does Ewing’s sarcoma most commonly arise?
Occurs most frequently in the pelvis and long bones
What would Ewing’s sarcoma show on an X-ray?
Onion skin appearance
Onion skin appearance on an X-ray would indicate what?
Ewing’s sarcoma
Define hepatoblastoma?
Hepatoblastomas are the most common primary malignant liver tumor in pediatric patients
What is the management for hepatoblastoma?
Surgical resection - first line
Cisplatin chemotherapy
Liver transplant
What is the most common primary brain tumour in children?
Pilocytic astrocytoma
What would pilocytic astrocytoma show on histology?
Rosenthal fibres (corkscrew eosinophilic bundles)
Define medulloblastoma?
A medulloblastoma is an aggressive paediatric brain tumour that arises within the infratentorial compartment. It spreads through the CSF system
What is the management for medulloblastoma?
Surgical resection and chemotherapy
What is the most common paediatric supratentorial tumour?
Craniopharyngioma
Define craniopharyngioma?
A solid/cystic tumour of the sellar region that is derived from the remnants of Rathke’s pouch
What is the management of craniopharyngioma?
Surgical resection of tumour
With or without postoperative radiotherapy.
Define epilepsy?
Epilepsy is a common neurological condition characterised by recurrent seizures
How is a seizure classified?
- Where seizures begin in the brain
- Level of awareness during a seizure
- Other features of seizures
What is a focal seizure?
Start in a specific area, on one side of the brain.
The level of awareness can vary in focal seizures.
Can also be either motor or non-motor.
What is a generalised seizure?
Involve networks on both sides of the brain at the onset.
Consciousness lost immediately.
Can be further subdivided into motor (e.g. tonic-clonic) and non-motor (e.g. absence)
What are the different types of generalised seizures?
Tonic-clonic (grand mal)
Tonic
Clonic
Typical absence (petit mal)
Myoclonic
Atonic
What is a focal to bilateral seizure?
Starts on one side of the brain in a specific area before spreading to both lobes
What is a postictal phase in a seizure?
Where the person is confused, drowsy and feels irritable or depressed for around 15 minutes
What is a tonic seizure?
The muscles become stiff and flexed, which can cause the patient to fall, usually backwards
What is an atonic seizure?
Aka drop attacks. The muscles suddenly relax and become floppy, which can cause the patient to fall, usually forward.
What is a clonic seizure?
Clonic seizures: violent muscle contractions (convulsions)
What is a tonic-clonic seizure?
There is loss of consciousness andtonic(muscle tensing) andclonic(muscle jerking) episodes. Typically the tonic phase comes before the clonic phase.
What is a myoclonic seizure?
Short muscle twitches. The patient usually remains awake during the episode.
Typically happen in children as part ofjuvenile myoclonic epilepsy.
What is an absence seizure?
Aka petit mal seizures, impaired awareness or responsiveness. Patient becomes blank and stares into space before returning to normal.
What are the main investigations following a seizure?
Following their first seizure patients generally have both an electroencephalogram (EEG) and neuroimaging (usually a MRI)
What is the management for generalised tonic-clonic seizures in males?
Sodium valproate
What is the management for generalised tonic-clonic seizures in females?
Lamotrigine or levetiracetam
Girls aged under 10 years and who are unlikely to need treatment when they are old enough to have children or women who are unable to have children may be offered sodium valproate first-line
What is the first line management for focal seizures?
Lamotrigine or levetiracetam
What is the second line management for focal seizures?
Carbamazepine, oxcarbazepine or zonisamide
What is the first line management for absence (petit mal) seizures?
Ethosuximide
What is the second line management for absence (petit mal) seizures in males?
Sodium valproate
What is the second line management for absence (petit mal) seizures in females?
Lamotrigine or levetiracetam
What drug may exacerbate absence seizures?
Carbamazepine
What is the management for myoclonic seizures in males?
Sodium valproate
What is the management for myoclonic seizures in females?
Levetiracetam
What is the management for tonic or atonic seizures in males?
Sodium valproate
What is the management for tonic or atonic seizures in females?
Lamotrigine
What is a febrile convulsion?
Febrile convulsions are seizures provoked by fever in otherwise normal children
What is a simple febrile convulsion?
< 15 minutes
Generalised seizure
No reoccurrence
Complete recovery within the hour
What is a complex febrile seizure?
15-30 minutes
Focal seizure
May have repeated seizures
What is febrile status epileptics?
> 30 minutes in duration
What is the management for recurrent febrile convulsions in the community?
Benzodiazepine rescue medication:
Rectal diazepam
Buccal midazolam
What is the management for status epilepticus convulsions in the community?
Benzodiazepine rescue medication:
Rectal diazepam
Buccal midazolam
What is the rescue management for status epilepticus convulsions in a hospital setting?
IV lorazepam
What are the four areas of developmental assessment?
Gross motor
Fine motor
Language delay
Social
Give an overview of measles?
RNA paramyxovirus
Spread via aerosol transmission
Infective from prodromal phase until 4 days after rash starts
What is the incubation period of measles?
10-14 days
What features does the prodromal phase of measles have?
Irritable
Conjunctivitis
Fever
What are the classic features of measles?
Koplik spots before the rash develops (white spots)
Rash - behind ears then whole body
Diarrhoea
Describe the rash seen in measles?
Discrete maculopapular rash becoming blotchy & confluent desquamation that typically spares the palms and soles may occur after a week
What are the investigations for measles?
IgM antibodies detected within a few days of rash onset
What is the management for measles?
Supportive mainly
Admission if immunocompromised or pregnant
Notifiable disease so inform public health
What is the most common complication of measles?
Otitis media
What is the most common form of death in measles?
Pneumonia
What is the management for individuals who have come into contact with measles?
Offer MMR vaccine
Should be given within 72 hours
What is the causative pathogen of chickenpox?
Primary infection with varicella zoster virus
What is the causative pathogen of shingles?
Reactivation of varicella zoster virus from dorsal root ganglion
Give an overview of chickenpox?
Spread via the respiratory route
Can be caught by someone with shingles
infective from 4 days before rash until 5 days after rash appeared
What is the incubation period for chickenpox?
10-21 days
What are the clinical features of chickenpox?
Prodromal phase - fever initially
Itchy, rash starting on head/trunk before spreading.
Systemic upset is usually mild
Describe the rash seen in chickenpox?
Initially macular then papular then vesicular
What is the management for chickenpox?
Keep cool
Trim nails
School exclusion until all lesions are dry and have crusted over
What demographic of patients should receive varicella zoster immunoglobulin (VZIG)?
Immunocompromised patients
Newborns with peripartum exposure
If chickenpox develops = IV aciclovir
What is a common complication of chickenpox? What may increase the risk of this?
Secondary bacterial infection particularly invasive group A streptococcal soft tissue infections may occur resulting in necrotising fasciitis
NSAIDs
Give an overview of rubella?
aka German measles
Togavirus
Outbreaks are more common in winter and spring
Individuals are infectious from 7 days before symptoms to 4 days after rash onset
What is the incubation period for rubella?
14-21 days
What are the features of rubella?
Prodromal phase - low-grade fever
Rash on the face then whole body - fades by day 3-5
Lymphadenopathy
Describe the rash seen in rubella?
Maculopapular
What are some complications of rubella?
Arthritis
Thrombocytopenia
Encephalitis
Myocarditis
What is the rule surrounding the MMR vaccine and pregnancy?
MMR vaccines should not be administered to women known to be pregnant or attempting to become pregnant
What is the management of rubella?
Supportive care - NSAIDs
Notification to public health
Children kept off school for 5 days after rash appears
Give an overview of poliovirus?
Enterovirus
Spread through faeco-oral transmission
What are the features of poliovirus?
Usually asymptomatic.
When symptomatic, the most common presentation is a minor gastrointestinal illness.
What is the management for poliovirus?
Supportive care
What pathogen causes slapped cheek syndrome?
Parovirus B19
What pathogen causes erythema infectiosum?
Parovirus B19
Give an overview of slapped cheek syndrome?
DNA virus
Respiratory route spread
Infectious 3-5 days before rash - therefore no need for school exclusion
What are the features of slapped cheek syndrome?
Rose red rash on cheeks which may spread to the rest of the body
What is the most likely infective cause of an aplastic crisis in sickle-cell disease?
Parovirus B19
What is the investigation for a pregnant mother that has been exposed to parovirus B19?
Maternal IgM and IgG
What is the incubation period of roseola?
5-15 days
Define roseola? What is the causative pathogen?
Roseola infantum is a common disease of infancy caused by the human herpes virus 6 (HHV6)
What are the features of roseola?
High fever: lasting a few days, followed later by a
maculopapular rash
Nagayama spots: papular enanthem on the uvula and soft palate
Febrile convulsions occur in around 10-15%
Diarrhoea and cough
Is school exclusion necessary for roseola?
School exclusion is not needed
What is impetigo and what is the causative pathogen?
Impetigo is a superficial bacterial skin infection usually caused by either Staphylcoccus aureus or Streptococcus pyogenes
Where does impetigo tend to occur on the body?
Areas not covered by clothes:
Face
Flexures
Limbs
What is the incubation period for impetgo?
4 to 10 days
What are the features of impetigo?
Golden crust to the skin
Very contagious
What is the management for non-bullous impetigo?
First line - hydrogen peroxide 1% cream
Topical fusidic acid
What is the management for extensive impetifo?
Oral flucloxacillin
Oral erythromycin if allergy
What is the rule about schooling and impetigo?
Children should be excluded from school until the lesions are crusted and healed
OR
48 hours after commencing antibiotic treatment
What pathogens can cause hand, foot and mouth disease?
Coxsackie virus A16
Enterovirus 71
What are the features of hand, foot and mouth disease?
Mild systemic upset: sore throat, fever
Oral ulcers
Followed later by vesicles on the palms and soles of the feet
What is the management for hand, foot and mouth disease?
Symptomatic treatment only
Children to not need to be excluded from school
What does ART for HIV entail?
A combination of at least three drugs, typically two nucleoside reverse transcriptase inhibitors (NRTI) and either a protease inhibitor (PI) or a non-nucleoside reverse transcriptase inhibitor (NNRTI).
When should ART be commenced for patients with HIV?
Following the 2015 BHIVA guidelines it is now recommended that patients start ART as soon as they have been diagnosed with HIV, rather than waiting until a particular CD4 count, as was previously advocated.
Give some examples of entry inhibitors used in ART? How do they work?
Maraviroc
Enfuvirtide
Prevent HIV-1 from entering and infecting cells.
What is the mechanism of action of the entry inhibitor Maraviroc?
Binds to CCR5, preventing an interaction with gp41
What is the mechanism of action of the entry inhibitor Enfuvirtide?
Binds to gp41, also known as a ‘fusion inhibitor’
Give some examples of NRTIs used in ART?
Zidovudine (AZT)
Abacavir
Emtricitabine
Didanosine
Lamivudine
Stavudine
Zalcitabine
Tenofovir
What are the general side effects of NRTIs?
Peripheral neuropathy
What are the side effects of the NRTI tenofovir?
Renal impairment
Ostesoporosis
What are the side effects of the NRTI zidovudine?
Anaemia
Myopathy
Black nails
What are the side effects of the NRTI didanosine?
Pancreatitis
What are some examples of NNRTIs used in ART?
Nevirapine
Efavirenz
What are the side effects of the NNRTI nevirapine?
P450 enzyme interaction and rashes
What is the side effect of efavirenz?
Rashes
What are some examples of protease inhibitors used in ART?
Indinavir
Nelfinavir
Ritonavir
Saquinavir
What are the side effects of protease inhibitors used in ART?
Diabetes
Hyperlipidaemia
Buffalo hump
Central obesity
P450 enzyme inhibition
What are the side effects of the protease inhibitor indinavir?
Renal stones
Asymptomatic hyperbilirubinaemia
What are the side effects of the protease inhibitor ritonavir?
A potent inhibitor of the P450 system
What is the mechanism of action of integrase inhibitors for ART?
Block the action of integrase, a viral enzyme that inserts the viral genome into the DNA of the host cell
What are some examples of integrase inhibitors used in ART?
Raltegravir
Elvitegravir
Dolutegravir
What is the investigation for HIV infection?
Combination tests (HIV p24 antigen and HIV antibody)
If the combined test is positive it should be repeated to confirm the diagnosis
When should a HIV test be performed after possible exposure?
4 weeks and a repeat test at 12 weeks if negative.
What is the most common cause of oesophagitis in patients with HIV?
Oesophageal candidiasis
What are the features of HIV seroconversion?
Sore throat
Lymphadenopathy
Malaise, myalgia, arthralgia
Diarrhoea
Maculopapular rash
Mouth ulcers
What should happen if a patient with HIV has a CD4 count of < 200/mm³?
All patients with a CD4 count < 200/mm³ should receive PCP prophylaxis
What is the management of pneumocystis jiroveci?
Co-trimoxazole (trimethoprim and sulfamethoxazole)
IV pentamidine in severe cases
What should happen if a patient with HIV has a CD4 count of < 50/mm³?
All patients with a CD4 count < 50/mm³ should receive mycobacterium avium complex prophylaxis
What is the pharmacological prophylaxis management for mycobacterium avian complex?
Azithromycin
What pathogen causes diptheria?
Corynebacterium diphtheriae via endotoxins
Corynebacterium diphtheriae causes which disease?
Diptheria
What is the management for diptheria?
Diptheria antitoxin
Azithromycin and clarithromycin
What is scalded skin syndrome?
A superficial blistering of the skin caused by a type ofstaphylococcus aureusbacteria that producesepidermolytic toxins
What is pertussis and what is the causative pathogen?
Whooping cough (pertussis) is an infectious disease caused by the Gram-negative bacterium Bordetella pertussis
What are the features of pertussis in the catarrhal phase?
URTI symptoms
What are the features of pertussis in the paroxysmal phase?
Cough increases in severity
Worse at night or after feeding
Inspiratory whoop
Infants may have spells of apnoea
What are the features of the convalescent phase in pertussis infection?
Cough will subside over weeks to months
What is the diagnostic criteria for whooping cough?
Acute cough >14 days AND one of following:
Paroxysmal cough
Inspiratory whoop
Post-tussive vomiting
undiagnosed apnoeic attacks in children
What is the management for pertussis?
An oral macrolide (e.g. clarithromycin, azithromycin or erythromycin)
Notify public health
What is scarlet fever?
Scarlet fever is a reaction to erythrogenic toxins produced by Group A haemolytic streptococci (usually Streptococcus pyogenes)
What is the incubation period of scarlet fever?
2-4 days
How is scarlet fever spread?
Via the respiratory route by inhaling or ingesting respiratory droplets or by direct contact with nose and throat discharges, (especially during sneezing and coughing).
What are the features of scarlet fever?
Fever: typically lasts 24 to 48 hours
Malaise, headache, nausea/vomiting
Sore throat
‘Strawberry’ tongue
Rash
Describe the rash seen in scarlet fever?
Fine punctate erythema (‘pinhead’) which generally appears first on the torso and spares the palms and soles
‘Sandpaper’ texture
What is the first line management for scarlet fever?
Penicillin V for 10 days
What is the second line management for scarlet fever?
Azithromycin
What are the rules surrounding scarlet fever and schooling?
Can return to school 24 hours after commencing antibiotics
Public health will need to be informed
What is the most common complication of scarlet fever?
Otitis media
What is toxic shock syndrome?
Staphylococcal toxic shock syndrome describes a severe systemic reaction to staphylococcal exotoxins, the TSST-1 superantigen toxin
What are the features of toxic shock syndrome?
Fever
Hypotension
Rash -> Desquamation
What is the management of toxic shock syndrome?
Clindamycin and benzylpenecillin
What is Kawasaki disease?
Kawasaki disease is a type of vasculitis which is predominately seen in children
What are the features of Kawasaki disease?
High grade fever >5 days
CRASH:
Conjunctival injection
Rash - bright red, cracked lips
Adenopathy - enlarge cervical lymph nodes
Strawberry tongue
Hands and feet rash - later peels
What is the management for Kawasaki disease?
High-dose aspirin
IV imunoglobulins
What is the main complication of Kawasaki disease?
Coronary artery aneurysm therefore an ECHO should be performed
What are the main organisms that cause meningitis in neonates to 3 months old?
Group B Streptococcus: usually acquired from the mother at birth.
E. coli and other Gram -ve organisms
Listeria monocytogenes
What type of organism is E. coli?
Gram negative rod
What type of organism is Listeria monocytogenes?
Gram positive rod
What are the main organisms that cause meningitis in 1 month to 6 year olds?
Neisseria meningitidis (meningococcus)
Streptococcus pneumoniae (pneumococcus)
Haemophilus influenzae
What type of organism is Neisseria meningitidis?
Gram negative diplococci
What type of organism is Streptococcus pneumoniae?
Gram positive diplococci/chain
What type of organism is Haemophillus influenzae?
Gram negative coccobacilli
What are the main organisms that cause meningitis in children over 6 years old?
Neisseria meningitidis (meningococcus)
Streptococcus pneumoniae (pneumococcus)
What are the main features of meningitis?
Headache
Fever
Nausea/vomiting
Photophobia
Drowsiness
Seizures
Neck stiffness
Purpuric rash
What is the management for meningitis for children under 3 months old?
IV amoxicillin (or ampicillin) + IV cefotaxime
What is the management for meningitis for children over 3 months old?
IV cefotaxime (or ceftriaxone)
Who should be offered prophylaxis for meningitis?
Offered to households and close contacts of patients affected with meningococcal meningitis
What is the management for viral meningitis?
Ceftriaxone and aciclovir intravenously
What is the most common cause of viral meningitis in adults?
Non-polio enteroviruses e.g. coxsackie virus, echovirus
What is the most common complication of meningitis?
Sensorineural hearing loss
What is contraindicated in meningococcal septicaemia?
Lumbar puncture
Suspected bacterial meningitis: an LP should be done before IV antibiotics, unless?
Cannot be done within 1 hour
Signs of severe sepsis or a rapidly evolving rash
Significant bleeding risk
Signs of raised intracranial pressure
What are the findings in CSF fluid for bacterial meningitis?
Cloudy
Low glucose (< 1/2 plasma)
High protein
10-5,000 polymorphs/mm³
What are the findings in CSF fluid for viral meningitis?
Clear/cloudy
60-80% of plasma glucose
Normal/raised protein
15-1,000 lymphocytes/mm³
What are the findings in CSF for tuberculosis meningitis?
Slight cloudy, fibrin web
Low glucose (< 1/2 plasma)
High protein
10-1,000 lymphocytes/mm³
CSF fluid for suspected meningitis:
Cloudy
Low glucose (< 1/2 plasma)
High protein
10-5,000 polymorphs/mm³
What type of pathogen is involved?
Bacterial meningitis
CSF fluid for suspected meningitis:
Clear/cloudy
60-80% of plasma glucose
Normal/raised protein
15-1,000 lymphocytes/mm³
What type of pathogen is involved?
Viral meningitis
CSF fluid for suspected meningitis:
Slight cloudy, fibrin web
Low glucose (< 1/2 plasma)
High protein
10-1,000 lymphocytes/mm³
What type of pathogen is involved?
Tuberculosis meningitis
When should dexamethasone NOT be given to children for meningitis?
Under 3 months old
Define encephalitis?
Encephalitis describes inflammation of the brain parenchyma. It mostly affects frontal and temporal lobes
What pathogen typically causes encephalitis?
Herpes simplex 1 (95%)
What is the management for encephalitis?
IV acyclovir
Define cryptorchidism?
A congenital undescended testis is one that has failed to reach the bottom of the scrotum by 3 months of age
What are the reasons for correction of cryptorchidism?
Reduce risk of infertility
Allows the testes to be examined for testicular cancer
Avoid testicular torsion
Cosmetic appearance
What is the management of cryptorchidism?
Orchidopexy at 6- 18 months of age
What is testicular torsion?
Twist of the spermatic cord resulting in testicular ischaemia and necrosis.
What are the features of testicular torsion?
Pain is usually severe and of sudden onset
May be referred to the abdomen
Nausea and vomiting
On examination what would you see for testicular torsion?
Swollen, tender testis retracted upwards. The skin may be reddened
Cremasteric reflex is lost
Elevation of the testis does not ease the pain (Prehn’s sign negative)
What is the management for testicular torsion?
Treatment is with urgent surgical exploration and bilateral orchiopexy (fixated to scrotal sac)
Define precocious puberty?
‘development of secondary sexual characteristics before 8 years in females and 9 years in males’
What are the two types of precocious puberty?
- Gonadotrophin dependent
- Gonadotrophin independent
What is the cause of gonadotrophin dependent precocious puberty?
Due to premature activation of the hypothalamic-pituitary-gonadal axis
FSH & LH raised
What is the cause of gonadotrophin independent precocious puberty?
Due to excess sex hormones
FSH & LH low
How can size of testes indicate the cause of precocious puberty?
Bilateral enlargement = gonadotrophin release from intracranial lesion
Unilateral enlargement = gonadal tumour
Small testes = adrenal cause (tumour or adrenal hyperplasia)
What is primary hypothyroidism?
There is a problem with the thyroid gland itself, for example an autoimmune disorder affecting thyroid tissue
What is secondary hypothyroidism?
Usually due to a disorder with the pituitary gland (e.g.pituitary apoplexy) or a lesion compressing the pituitary gland
What are the general features of hypothyroidism?
Weight gain
Lethargy
Cold intolerance
Constipation
What are the skin features of hypothyroidism?
Dry (anhydrosis), cold, yellowish skin
Non-pitting oedema
Dry, coarse scalp hair, loss of later aspect of eyebrows (Queen Anne’s sign)
What is the gynaecological feature of hypothyroidism?
Menorrhagia
What are the neurological features of hypothyroidism?
Decreased deep tendon reflexes
Carpal tunnel syndrome
What are the features of congenital hypothyroidism?
Prolonged neonatal jaundice
Delayed mental/physical milestones
Short stature
Puffy face
Hypotonia
