Paediatrics Flashcards
Name 11 common paediatric genetic conditions?
type of abnormality?- chromosome
presenting features?
Cri du Chat syndrome- chromosome 5p deletion, cat-like cry, poor feeding/weight gain, learning difficulty, hypertelorism
Patau syndrome- caused by trisomy 13, cleft lip/ palate, microcephaly, polydactyl
Edwards syndrome- trisomy 18, low set ears, micrognathia, rocker bottom feet
Prader Willi syndrome- deletion in PATERNAL copy 15q-11-13, hypotonia, hypogonadism, obesity
William’s syndrome- chromosome 7 deletion, short stature, learning difficulties, extroverted, aortic stenosis
Fragile X syndrome- trinucleotide repeat of X-chromosome, macrocephaly, large ears, high arched palate, long thin face, macroorchidism (testes larger than normal for the age)
Noonan syndrome- autosomal dominant, webbed neck, short stature pulmonary stenosis, pectus excavatum (ribs grow inwards)
Turner’s syndrome- 45XO/ 45X (only have 1 X-chromosome, affects girls only), short stature, wide spaced nipples, primary amenorrhoea (NEVER experienced menstruation), shield test
Down’s syndrome- trisomy 21, single palmar crease, short neck, round face and flat nasal bridge, protruding tongue, brush-field eye spots
Klinefelter syndrome- 47XXY (males with an extra X-chromosome), increased oestrogen levels, gynaecomastia, tall/ slim, reduced muscle bulk, hypogonadism, > risk of oesteopersis/ breast cancer
DiGeorge syndrome- chromosome 22 deletion, tetralogy of Fallot, long face and small teeth, broad nose, cleft palate
Common causes of limp in a child?
‘STOP LIMPING’
S- septic arthritis
T- toddler’s fracture
O- Osteomyelitis
P- perthes disease
L- limb length discrepency
I- inflammation (reactive arthritis, JIV)
M- malignancy
P- pyomyositis
I- iliopsoas abscess
N- neurological
G- gastrointestinal/ genitourinary
Trauma/ non-accidental injury
Slipped femoral epiphysis
What are the 4 signs of tetralogy of Fallot?
VROP
v- ventricular septal defect
r- right ventricular hypertrophy
o- overriding aorta
p- pulmonary stenosis
what is RSV?
causes?
pathophysiology?
transmission?
Respiratory syncytial virus
Most common cause of bronchiolitis (affects bronchioles LRTI)
-Infants <6 months at greatest risk in winter months
-Transmitted via respiratory droplets (cough, sneeze)
-Causes more than one cell to merge together – hence syncytial virus
-Infected cells eventually die leading to inflammation -> bronchiolitis -> increased mucus production -> oedema in bronchioles -> restricts airflow
Symptoms of RSV?
RSV management?
Symptoms:
Mild: cough, fever, sore throat
Severe- wheezing, SOB, hypoxia
Management: mostly self-limiting and needs conservative treatment
Moderate/ severe- oxygen support
Vaccine now available
Outline the childhood vaccine timeline
-Type of vaccine
-Age at which they get the vaccine
8 weeks
12 weeks
16 weeks
1 year
2+ years
3 years and 4 months
8 weeks: 6 in 1, MenB, Rotavirus
12 weeks: 6 in 1, Pneumococcal and Rotavirus
16 weeks: 6 in 1, MenB
1 year: Hib/ MenC, MMR, Pneumococcal, MenB
2 years: Flu (annual)
3 years and 4 months: MMR, 4 in 1 pre-school booster
Causes of non-blanching rash in children (4)
Meningococcal septicaemia
Idiopathic thrombocytopenia (ITP)
HSP
Leukaemia
Viral rashes in children (3) and the virus it is caused by?
Measles- rubeola
Mumps- paramyxovirus
Hand, foot and mouth disease- coxsackie virus
Vesicular and pustular rashes (2) and organism caused by?
Varicella zoster (VZV)
Impetigo (S. aureus, group A strep)
Name 5 infantile rashes
Nappy rash
Molluscum contangiosum
Erythema Toxicum
Candidiasis
Congenital dermal melanocytosis
How does KAWASAKI disease present?
Signs and sx
Investigations
Complications
Management
High persistent fever >5 days
Widespread erythematous maculopapular rash
Skin peeling of hand/ feet
Swollen neck lymphs
Dry cracked lips
Red/ bumpy/ swollen tongue-> strawberry
Painful hands/ feet
Red eyes
Bloods: FBC, U+Es, CRP (anaemia, leucocytosis, thrombocytopenia)
Urinalysis
ECHO: Coronary artery aneurysm
Complications: coronary artery aneurysm, leaky valves, pericardial effusion
Management:
Admission
IVIG (immunoglobulins) -> reduce risk of coronary artery complications
Aspirin -> reduce thrombocytosis (contraindicated in <16s other than those with Kawasaki)
Prednisolone -> reduce vessel inflammation
Investigations and management for Scarlett fever?
Clinical diagnosis with throat swab for culture
Phenoxymethylpenicillin (10 days)
Regular Fluids
Chlorphenamine -> itchiness
Symptoms of ITP?
How is ITP diagnosed?
Management of ITP?
Easy bruising
Rash
Bleeding from the gums or nose
Blood in urine / stools
Heavy menstrual flow in post-menarche females
Investigations:
Full blood count will show low platelets (thrombocytopenia) + blood films
Clotting screen
Management:
Children usually improve without treatment
Intervention not usually required unless very low platelet count or excessive bleeding
Avoid aspirin and NSAIDS and IM injections
Discuss with haematology
What is HSP?
Symptoms?
Investigations?
Managaement?
A small blood vessel vasculitis is characterised by the deposition of IgA immune complexes causing inflammation.
Symptoms:
Abdominal pain
May result in blood in the stool
Arthralgia affecting the knees and ankles
Proteinuria / haematuria due to vasculitis in the kidneys
Hypertension
Investigations:
Urinalysis to monitor kidney function
BP monitoring
Mainly diagnosed clinically
Management:
No specific treatment – analgesia for joint pain
Steroids may be needed for severe symptoms
What is Meningococcal Septicaemia?
Symptoms?
Investigations?
Management?
Complications?
Blood infection of the bacteria Neisseria Meningitidis bacteria
SIGNS & SYMPTOMS:
Fever
Respiratory distress
Reduced level of consciousness
High-pitched cry
If meningococcal disease (MenSep + Meningitis): May present with signs of meningism (photophobia, neck stiffness, headache)
Non-blanching petechial rash. If the dots are larger they are called purpura.
Any part of the body may be affected but it commonly affects the trunk and limbs
Investigations:
Bloods- FBC, U+Es, LFT, CRP
Blood cultures
Urinalysis + cultures
LP unless contraindicated
Management:
Antibiotics
< 3 months: IV amoxicillin (or ampicillin) + IV cefotaxime
> 3 months: IV cefotaxime (or ceftriaxone)
Steroids not recommended
Fluids- to treat shock
Cerebral monitoring
List 5 contraindications for an LP in Meningitis in children ?
For patients with meningococcal septicaemia a lumbar puncture is contraindicated - blood cultures and PCR for meningococcus should be obtained.
Contraindication to lumbar puncture (any signs of raised ICP)
-focal neurological signs
-papilloedema
-significant bulging of the fontanelle
-disseminated intravascular coagulation
-signs of cerebral herniation
Symptoms of Leukaemia?
Investigations?
Management?
Complications?
SIGNS & SYMPTOMS:
Increased susceptibility to infection
Easy bruising
Bleeding
Non-blanching rash
Joint pain – bone invasion
DIAGNOSIS:
Full blood count showing pancytopenia
Blood film
Bone marrow biopsy
COMPLICATIONS:
Neutropenic sepsis
Anaemia – shortness of breath, fatigue
Can be fatal
MANAGEMENT:
Consult with haemoncology for management (chemotherapy, stem cell transplant)
Management for impetigo?
Fusidic acid cream
-7 days under 12 years
-5-10 days for 12-17 years
School exclusion
children should be excluded from school until the lesions are crusted and healed or 48 hours after commencing antibiotic treatment
What is erythema toxicum?
Rash that only affects new-borns and presents in the first few days of birth.
Sometimes referred to as baby acne.
SIGNS AND SYMPTOMS
-Can be on a baby’s face, arms, legs and torso.
Looks like small, filled spots and often gets mistaken for being filled with pus, but there is no infection.
No management required and goes away within a week/ weeks
What is CONGENITAL DERMAL MELANOCYTOSIS (MONGOLION BLUE SPOT)?
-Flat blue/blue-grey birthmark that can appear at birth but also in the first few weeks after birth.
-Very common in children of Asian, middle Eastern, Mediterranean or African background.
Very rare in children of white European background but can happen.
-Melanocytes produce melanin (makes skin pigment) which is also responsible for hair and eye colour. These cells remain in the dermis at birth but continue to produce melanin which appears as a blue/blue-grey colour through the skin.
Diagnosis:
Exclude safeguarding concerns
Management:
No managament
Can last until 10 years old or later into adulthood
Management for nappy rash?
Complications of nappy rashes?
MANAGEMENT:
Antifungal creams or ointments which can be obtained over the counter, typically Clotrimazole 10% (Canesten) 2-3 times a day.
COMPLICATIONS:
-Can develop into oral thrush and Nystatin is given.
-Pain is quite a common complication.
-A secondary bacterial infection can happen in some babies and needs to be treated accordingly
What is eczema herpeticum?
Symptoms?
Investigations?
Management?
Complications?
Complication of Atopic Eczema caused by a specific infection. -Caused by the Herpes Simplex Virus (HSV) signs appear 5-12 days after infection
SIGNS AND SYMPTOMS
Unwell, swollen lymph nodes, temperatures, weeping blisters and sores.
May present septic.
Investigations:
Viral culture
Abs staining
PCR
Blood smear
Bacterial swabs MC&S
MANAGEMENT
-Classed as a dermatological emergency prompt management is needed.
-Aciclovir IV every 8 hours for 14 days or orally 5 times a day for 5 days.
Swabs
Ophthalmology review if it is near their eyes.
Complications:
Contagious
Avoid pregnant and immunocompromised people
Cellulitis
Impetigo
What is Perthes disease?
Causes
Symptoms
Investigations
Management
Complications
Avascular necrosis of the femoral head
>boys 5-10 years old
Causes: genetics, vascular anomalies, trauma
Symptoms:
-hip pain: develops -progressively over a few weeks
-limp
-stiffness and reduced range of hip movement
-x-ray: early changes include widening of joint space, later changes include decreased femoral head size/flattening
Investigations:
x-ray
technetium bone scan or MRI if normal x-ray and symptoms persist
Complications:
osteoarthritis
premature fusion of the growth plates
Management:
Rest
Cast/ braces
Surgery
Causes of seizures? 7
Epilepsy
Febrile convulsions
Stoke/ ICH
SOL
Autoimmune- cerebral vasculitis
Trauma/ head injury/ NAI
Toxins- meds, drugs, overdose
Metabolic- hypoglycaemia, DKA, electrolyte abnormalities
Hepatic encephalopathy
Wernickes and Korsakoffs encephalopathy