Paediatrics👶🏻 Flashcards
What are the features of congenital rubella syndrome?
Congenital deafness, congenital cataracts, congenital heart disease (PDA and pulmonary stenosis) and learning disability
What are the features of congenital varicella syndrome?
Fetal growth restriction, microcephaly, hydrocephalus and learning disability. Scars and significant skin changes in specific dermatomes. Limb hypoplasia and cataracts.
What are the features of congenital cytomegalovirus?
Fetal growth restriction, microcephaly, hair loss, vision loss, learning disability, seizures.
What are the features of congenital toxoplasmosis?
Intracranial calcification, hydrocephalus, chorioretinitis.
What is the aetiology of Turners Syndrome?
XO in which only one sex chromosome is inherited.
Give features of Viral episodic wheeze?
- No interval symptoms
- No history of excess atopy
- Likely to improve with age
- No benefit from regular inhaled steroids
What is epiglottitis caused by?
Haemophilus Influenzae
What is the classic cause of croup?
Parainfluenza virus (BARKING COUGH)
What is the management of croup?
Most cases can be managed at home wth simple supportive treatment.
Oral dexamethasone is very effective. This is usually 150mcg/kg which can be repeated after 12 hours.
How is pneumonia diagnosed?
History of cough and/or difficulty breathing (<14 days) with increased respiratory rate
- <2 months - 60/min
- 2-11 - 50/min
- 11 months - 40/min
What is bronchiolitis caused by usually?
Respiratory synctial virus is the common pathogen in 78-80%
What are the cyanotic congenital heart diseases?
- Tetralogy of Fallot
- Transposition of the great arteries
Describe VSD
Most common congenital heart defect
S&S: tachycardia, tachyopnea, FTT, HF, pansystolic murmur (L lower stern edge)
Mx: Small – will close spontaneously. Large – surgical closure + diuretics
Describe ASD
S&S: commonly none, tachypnea, FTT, wheeze, ejection sytolic murmur (L upper S.E)
Mx: Small – will close spontaneously. Large – surgical closure
Describe PDA
DA connects aorta to pulmonary artery
Term infant normally closes by 1/12.
S&S: tachypnea, FTT, continuous machine like murmur (below L clavicle), bounding pulse
Mx: NSAID’s (indomethacin) or surgical ligation
Describe Tetralogy of Fallot
4 components?
Pulmonary stenosis, VSD, Overriding aorta, RVH
S&S:
Severe cyanosis, hypercyanotic spells on; exercise, crying, defecating,
squatting on exercise, ejection systolic murmur, clubbing of fingers and toes (late)
Mx:
Surgery at 6 months – close VSD, relieve Pul. outract obstruction
Define transposition of the great arteries
Pulmonary artery and Aorta swap
RV –> Aorta –> Around the Body –> RA
LV –> Pulmonary Artery –> Lungs –> LA
Define transposition of the great arteries
Pulmonary artery and Aorta swap
RV –> Aorta –> Around the Body –> RA
LV –> Pulmonary Artery –> Lungs –> LA
S&S:
Often present on day 2 of life (after DA closes) with severe life threatening cyanosis
Mx:
Maintain PDA (prostaglandin infusion), Surgical; atrial sepstostomy and correction
What are the signs of a harmless murmur?
4 S’s
Soft, Systolic, aSymptomatic, L Sternal edge
What is the presentation of acute epiglottitis?
- Sore throat in a septic looking child
- Child unable to speak or swallow (drooling)
- Sitting upright, immobile with open mouth to optimise airway
- Soft inspiratory stridor, increased resp distress, little/no cough
What is the causative pathogen of whooping cough and what is the incubation period?
Bordetella Pertussis
Highly contagious and infectious. Epidemic every 3-4 years
Incubation 10-14 days
What is the management of whooping cough?
< 1month Azithromycin 5days
>1 month Azithromycin/ Erythromycin 7days
School exclusion
What is Palivizumab?
How often is it give and who to?
Monoclonal antibody
IM once per month through autumn and winter
CF, immunocompromised, congenital heart disease, Downs syndrome
What is a life threatening asthma attack in under 5 ?
Sats <92%, silent chest, bradycardic, poor resp effort, altered consciousness, cyanosed
What is a severe asthma attack in over 5 years old?
Sats <92%, PEF <50%, unable to complete sentences, HR >125, RR >30 use of accessory neck muscles
What is the gene defect in cystic fibrosis?
Autosomal recessive defect in CFTR
Codes cAMP regulated chloride channels in cell membranes (chromosome 7)
Commonest AR in Caucasians, 1 in 25 carriers
How do you diagnose cystic fibrosis?
- Guthrie heel prick screening test
- Faecal elastase (low levels)
- Sweat test (Cl ions markedly)
- Gene abnormalities in CFTR protein
What are the signs and symptoms of pyloric stenosis?
Weight loss, FTT, hungry after feeds
Visible gastric peristalsis, palpable abdo mass on feeding
Signs on bloods - Hypokalaemic, hypochloraemic, metabolic alkalosis
What is the management of pyloric stenosis?
Ramstedt’s pyloromyotomy
What are the clinical features of intussusception?
Severe paroxysmal abdominal colic pain
Child draws knees up to chest, becomes pale, screaming in pain
Vomiting – may become billious
Blood and mucous in stool – REDCURRENT JELLY
RLQ abdo mass – SAUSAGE SHAPED
What signs of intussusception would you see on USS Abdo?
Doughnut/target sign
What is the management of intussusception?
Rectal air insufflation
How does Intestinal malrotation present?
Presents day 1-7 of life:
BILLIOUS VOMITING (below ampulla of vater)
Abdo pain
Tenderness (peritonitis/ischaemic bowel)
Bile stained vomit in 1st week of life = Malrotation until proven otherwise!
What is the management of intestinal malrotation?
Ladd’s procedure- rotates bowel anti-clockwise
What is Hirschsprung’s disease?
Absence of ganglionic cells from myenteric plexus of large bowel
Results in a narrow, contracted segment of bowel
75% cases confined to recto-sigmoid
Commonly ileum moves into caecum via ileo-caecal valve
What is the triad of findings in haemolytic uraemic syndrome??
AKI thrombocytopenia and a normocytic anaemia
When do children receive the MMR vaccine?
1 year and 3y4m
When do children receive the HPV vaccine?
12-13y
What is the investigation for ALL?
Blood film and bone marrow biopsy
How does congenital adrenal crisis present?
The symptoms that present and the age at which they become apparent depends on the degree of cortisol and/or aldosterone deficiency.
Boys with severe CAH show symptoms soon after birth, when a baby develops heart rhythm abnormalities, dehydration and vomiting. The levels of minerals (electrolytes) in the body are also affected, particularly showing low salt levels (hyponatraemia) and low blood sugar levels (hypoglycaemia).
What pathogen is involved in Infectious mononucleosis?
EBV in 90% of cases. Less frequent causes include CMV and HHV-6
What are ‘sanctuary sights’ in ALL and where are they?
The testes and CNS are recognised as areas which are protected from chemotherapeutic agents (due to the existence of the blood brain barrier for CNS.
What treatments are available for sickle cells disease?
- Prophylactic penicillin as the vast majority have had a splenectomy
- Stem cell transplantation is a curative treatment but is not often done due to the significant risks involved.
- Hydroxycarbamide is used to prevent vaso-occlusive complications of sickle cell disease.
- Blood transfusions can be used if the patient is suffering from severe anaemia or to reduce the proportion of Hbs.
What is the deficiency in Haemophilia A?
Factor 8
What is the deficiency in Haemophilia B?
Factor 9
What are the clinical features of Kawasaki disease?
Conjunctivitis
Rash
Adenopathy
Strawberry tongue
Hands (palmar erythema, swelling)
Burn (fever >5 days)
CRASH and Burn
What do you use to monitor Hodgkin’s lymphoma?
Positron emission tomography (PET)
What is the most common age group for Perthes disease?
5-10 years
What are some risk factors for developmental dysplasia of the hip?
Females are 6x more likely to have DDH
Breech birth, high birth weight, oligohydramnios, prematurity
What is duodenal atresia associated with?
Down syndrome
What are some clinical features of children with Down Syndrome?
Hypotonia, brushfield spots (increased pigmentation) in the iris, delayed motor milestones, small ears and upslanted palpebral fissures.
Other features include round face, flat occiput, epicanthic folds, protruding tongue, short stature and learning disabilities
What is a common complication of juvenille idiopathic arthritis?
Chronic anterior uveitis is seen in up to 1/3 of children with JIA
What are some recognised complications of chickenpox?
Bacterial superinfection, cerebellitis, DIC, progressive diseminated disease
What are the clinical features of Fragile X syndrome?
learning difficulties, large ears, long thin face, high-arched palate,
marcroorchidism, autism, ADHD hypotonia, mitral valve prolapse
What are the clinical features of Prader-Willi Syndrome?
hypotonia, faltering growth, developmental delay, learning difficulties, facies-almond shaped eyes, narrow bridge of nose, narrowing of forehead at temples, thin upper lip.
What are the clinical features of Noonan syndrome?
mild learning difficulties, short webbed neck, pectus excavatum, short stature,
congenital heart disease, facies- broad forehead, drooping eyelids, wide distance between eyes
What are the clinical features of Williams syndrome?
short stature, congenital heart disease, mild-moderate learning difficulties,
facies- broad forehead, short nose, full cheeks, wide mouth.
What are the clinical features of dermatitis herpetiformis?
Itchy, bullous, rash affecting the extensor surfaces (usually) which arise on reddened skin, lesions grow in a centrifugal pattern
What are the clinical features of Impetigo?
small pustules that develop a honey-coloured crusted plaques, usually on face, no
surrounding erythema, often not itchy.
What are some risk factors for developmental dysplasia of the hip?
Female sex: 6 times greater risk
Breech position
Positive family history
Firstborn children
Oligohydramnios
Birth weight >5kg
Congenital calcaneovalgus foot deformity
Which infants require a routine ultrasound examination for DDH?
- First-degree family history of hip problems in early life
- Breech presentation at or after 36 weeks gestation, irrespective of presentation at birth or mode of delivery
- Multiple pregnancy
What is the management of developmental dysplasia of the hip?
- Most unstable hips will spontaneously stabilise by 3-6 weeks of age
- Pavlik harness (dynamic flexion-abduction orthosis) in children younger than 4-5 months
- Older children may require surgery
What is the surgical management of testicular torsion?
treatment is with urgent surgical exploration
if a torted testis is identified then both testis should be fixed as the condition of bell clapper testis is often bilateral.
What is Ebstein’s anomaly?
Caused by the use of lithium in pregnancy. It occurs when the posterior leaflets of the tricuspid valve are displaced anteriorly towards the apex of the right ventricle.
What is a septic screen?
A septic screen is a set of tests and investigations looking for indications of sepsis or infection.
What is the Sepsis Six?
Give high flow oxygen
Obtain IV/IO access and take blood tests
Blood gas and lactate (+/- FBC, U&E, CRP if able)
Blood glucose – treat hypoglycaemia (2mls/kg 10% glucose)
Blood cultures
Give IV/IO Antibiotics (dependant on local guidelines)
Consider fluid resuscitation and Monitor urine output
Involve senior clinicians early
Consider inotropic support
What is the most likely pathogen of gram- negative diplococci meningitis?
Neisseria Meningitidies
What is the cause of purpura in meningococcal septicaemia?
Rash indicates the infection has caused disseminated intravascular coagulopathy and subcutaneous haemorrhages.
The bacteria produce toxins which travel around the body and cause damage to the blood vessels and organs. As the blood vessels become damaged blood leaks into the surrounding tissue.
What is a close contact of meningitis defined as?
Risk is highest for people that have had close prolonged contact within the 7 days prior to the onset of the illness
What investigations would you do for JIA?
FBC, ESR, CRP, ANA and RF
What initial treatment options would you use in JIA?
NSAIDs such as ibuprofen.
Steroids
What is the treatment for Kawasaki Disease?
IV Ig
High dose aspirin
What blood tests should you do for new diagnosis T1DM?
Baseline bloods (FBC, U&E and a formal lab glucose)
HbA1C
TFT and TPO
Anti-TTG
Insulin antibodies, anti GAD antibodies and islet cell antibodies
What are the most common causes of catastrophic illness in a neonate?
Sepsis
Ductal dependent congenital heart disease
Metabolic disturbance
What is stridor?
Monophonic, low pitched, turbulent sound that can occur during inspiration or expiration
Which patients might receive palivizumab?
Should be used by those at high risk of severe RSV disease
Those with bronchopulmonary dysplasia due to prematurity or chronic lung disease
Those at high risk due to congenital heart disease
Those at high risk due to severe combined immunodeficiency syndrome
What conditions are picked up on newborn screening test?
CF
Sickle cell disease
Congenital hypothyroidism
Inherited metabolic disease
Severe combined immunodeficiency
What type of laxative should you avoid in children?
Stimulant eg Senna
What are the diagnostic criteria for minimal change disease?
- Massive proteinuria (3+/4+ on dipstick or urine protein/creatinine ratio >200mg/mmol)
- Hypoalbuminemia (<20g/l)
- Oedema
When does the moro reflex begin to disappear?
Begins to disappear at 12 weeks with complete disappearance by 6 months
What features would you see on examination for a child with osteogenesis imperfecta?
Hypermobility, Blue sclera, triangular face, short stature