Paediatric Common Conditions 2

Question 1

What is cystic fibrosis?

Answer 1

an autosomal recessive disorder causing increased viscosity of secretions

due to a defect in the cystic fibrosis transmembrane conductance regulator gene (CFTR) (usually on chromosome 7) which codes a cAMP-regulated chloride channel

Question 2

Name some organisms that may colonise CF patients

Answer 2

Staphylococcus aureus
Pseudomonas aeruginosa
Burkholderia cepacia
Aspergillus

Question 3

How is CF diagnosed?

Answer 3

Sweat test:
patient’s with CF have abnormally high sweat chloride
normal value < 40 mEq/l, CF indicated by > 60 mEq/l

Question 4

What can cause a false positive sweat test?

Answer 4

malnutrition
adrenal insufficiency
glycogen storage diseases
nephrogenic diabetes insipidus
hypothyroidism, hypoparathyroidism
G6PD
ectodermal dysplasia

Question 5

What can cause a false negative sweat test?

Answer 5

skin oedema, often due to hypoalbuminaemia/ hypoproteinaemia

Question 6

What features may CF present with?

Answer 6

may be diagnosed on newborn blood spot test

failure to pass meconium ( first stool, causes abdo distension and and vomiting)

recurrent lower respiratory tract infections

malabsorption: steatorrhea, failure to thrive

pancreatitis

diabetes mellitus

delayed puberty, infertility / subfertility

Question 7

How can CF be managed?

Answer 7

at least twice daily chest physiotherapy and postural drainage

high calorie diet, including high fat intake

vitamin supplementation
pancreatic enzyme supplements taken with meals

avoid other CF patients and jacuzzis

lung transplantion

Question 8

What is the contraindication to lung transplantation in CF?

Answer 8

chronic infection with Burkholderia cepacia

Question 9

What are the key referral points for developmental delays?

Answer 9

doesn’t smile at 10 weeks
cannot sit unsupported at 12 months
cannot walk at 18 months

Question 10

What are the common causes of developmental gross motor problems?

Answer 10

variant of normal, cerebral palsy and neuromuscular disorders (e.g. Duchenne muscular dystrophy)

Question 11

What are the risk factors for developmental dysplasia of the hip? (DDH)

Answer 11

female sex: 6 times greater risk
breech presentation
positive family history
firstborn children
oligohydramnios
birth weight > 5 kg
congenital calcaneovalgus foot deformity

Question 12

What screening is available for DDH?

Answer 12

Routine USS for:
first-degree family history of hip problems in early life
breech presentation at or after 36 weeks gestation
multiple pregnancy

all infants are screened at both the newborn check and also the six-week baby check using the Barlow and Ortolani tests

Question 13

Outline the Barlow and Ortolani tests

Answer 13

Barlow test: attempts to dislocate an articulated femoral head
Ortolani test: attempts to relocate a dislocated femoral head

Question 14

How should suspected DDH be investigated in a child > 4.5 months?

Answer 14

X-ray ( as opposed to USS earlier on)

Question 15

How can DDH be managed?

Answer 15

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

Question 16

Most common cause of gastroenteritis in the UK?

Answer 16

rotavirus

Question 17

What is the usual course of D&V in kids?

Answer 17

diarrhoea usually lasts for 5-7 days and stops within 2 weeks
vomiting usually lasts for 1-2 days and stops within 3 days

Question 18

What are signs of clinical dehydration in children who have had prolonged D&V?

Answer 18

Appears to be unwell or deteriorating
Decreased urine output
Altered responsiveness (for example, irritable, lethargic)
Sunken eyes
Dry mucous membranes
Tachycardia
Tachypnoea
Reduced skin turgor

Normal peripheral pulses, cap refill and bp

Question 19

What are signs of shock in children who have had prolonged D&V?

Answer 19

Decreased level of consciousness
Cold extremities
Pale or mottled skin
Tachycardia
Tachypnoea
Weak peripheral pulses
Prolonged capillary refill time
Hypotension

Question 20

Features suggestive of hypernatraemic dehydration:

Answer 20

jittery movements
increased muscle tone
hyperreflexia
convulsions
drowsiness or coma

Question 21

When should you do a stool culture in children with diarrhoea?

Answer 21

you suspect septicaemia or
there is blood and/or mucus in the stool or
the child is immunocompromised

consider when:
the child has recently been abroad or
the diarrhoea has not improved by day 7 or
you are uncertain about the diagnosis of gastroenteritis

Question 22

How should you manage children with D&V who are becoming dehydrated?

Answer 22

give 50 ml/kg low osmolarity oral rehydration solution (ORS) solution over 4 hours, plus ORS solution for maintenance, often and in small amounts

continue breastfeeding

consider supplementing with usual fluids (including milk feeds or water, but not fruit juices or carbonated drinks)

Question 23

Causes of chronic diarrhoea in infants?

Answer 23

most common cause in the developed world is cows’ milk intolerance
toddler diarrhoea: stools vary in consistency, often contain undigested food
coeliac disease
post-gastroenteritis lactose intolerance

Question 24

Klinefelter’s syndrome is associated with karyotype 47, XXY. What features does it present with?

Answer 24

often taller than average
lack of secondary sexual characteristics
small, firm testes
infertile
gynaecomastia - increased incidence of breast cancer
elevated gonadotrophin levels

Question 25

Kallman's syndrome is a recognised cause of delayed puberty secondary to hypogonadotrophic hypogonadism. It is usually inherited as an X-linked recessive trait. How does it present?

Answer 25

Exam clue : lack of smell (anosmia) in a boy with delayed puberty 'delayed puberty' hypogonadism, cryptorchidism anosmia sex hormone levels are low LH, FSH levels are inappropriately low/normal patients are typically of normal or above average height

Question 26

Give the key clinical features of Down’s syndrome

Answer 26

face: upslanting palpebral fissures, epicanthic folds, Brushfield spots in iris, protruding tongue, small low-set ears, round/flat face flat occiput single palmar crease, pronounced 'sandal gap' between big and first toe hypotonia congenital heart defects duodenal atresia Hirschsprung's disease

Question 27

What are the possible cardiac complications of Down’s syndrome?

Answer 27

endocardial cushion defect (most common) ventricular septal defect secundum atrial septal defect tetralogy of Fallot isolated patent ductus arteriosus

Question 28

What are the possible complications of Down’s syndrome later in life?

Answer 28

learning difficulties repeated respiratory infections (+hearing impairment from glue ear) subfertility hypothyroidism acute lymphoblastic leukaemia atlantoaxial instability Alzheimer's disease

Question 29

What monitoring may be required for children with Down's syndrome?

Answer 29

Regular thyroid checks (2 yearly) Echocardiogram to diagnose cardiac defects Regular audiometry for hearing impairment Regular eye checks

Question 30

What is Duchenne muscular dystrophy? How does it present?

Answer 30

X-linked recessive inherited disorder in the dystrophin genes required for normal muscular function Features progressive proximal muscle weakness from 5 years calf pseudohypertrophy Gower's sign: child uses arms to stand up from a squatted position

Question 31

How can Duchenne muscular dystrophy be investigated and managed?

Answer 31

Investigation: raised creatinine kinase genetic testing Mx: supportive patients typically survive to around the age of 25-30 years associated with dilated cardiomyopathy

Question 32

What is Ebstein's anomaly ? How does it present?

Answer 32

a congenital heart defect characterised by low insertion of the tricuspid valve resulting in a large atrium and small ventricle 'atrialisation' of the right ventricle Clinical features: cyanosis prominent 'a' wave in the distended JVP hepatomegaly tricuspid regurgitation (pansystolic murmur, worse on inspiration) right bundle branch block → widely split S1 and S2

Question 33

How does eczema present in children?

Answer 33

itchy, erythematous rash in infants the face and trunk are often affected in younger children, eczema often occurs on the extensor surfaces in older children, a more typical distribution is seen, with flexor surfaces affected and the creases of the face and neck

Question 34

How can eczema be managed in children?

Answer 34

avoid irritants simple emollients topical steroids emollient should be applied first followed by waiting at least 30 minutes before applying the topical steroid fingers should not be inserted into pots (bacterial contamination) wet wrapping

Question 35

What is Epstein’s pearl?

Answer 35

congenital cyst found in the mouth, usually resolves spontaneously

Question 36

What are febrile convulsions?

Answer 36

seizures provoked by fever in otherwise normal children typically occur between 6 months and 5 years Clinical features: usually occur early in a viral infection as the temperature rises rapidly seizures are usually brief, lasting less than 5 minutes are most commonly tonic-clonic

Question 37

When are febrile convulsions considered complex?

Answer 37

when they consist of partial or focal seizures, last more than 15 minutes or occur multiple times during the same febrile illness

Question 38

DDx for febrile convulsions?

Answer 38

Epilepsy Meningitis, encephalitis Intracranial SOL, e.g. brain tumours or intracranial haemorrhage Syncopal episode Electrolyte abnormalities Trauma

Question 39

How should febrile convulsions be managed?

Answer 39

children who have had a first seizure OR any features of a complex seizure should be admitted to paediatrics parents should be advised to phone for an ambulance if the seizure lasts > 5 minutes regular antipyretics have not been shown to reduce the chance of a febrile seizure occurring if recurrent then benzodiazepine rescue medication may be considered - rectal diazepam or buccal midazolam

Question 40

How does fetal alcohol syndrome present?

Answer 40

May have signs of alcohol withdrawal at birth short ­palpebral fissure thin vermillion border/hypoplastic upper lip smooth/absent filtrum learning difficulties microcephaly growth retardation epicanthic folds cardiac malformations

Question 41

What is the commonest cause of vomiting in infancy?

Answer 41

Gastro-oesophageal reflux

Question 42

Infant < 8 weeks, presents with milky vomits after feeds, often after being laid flat, excessive crying -->

Answer 42

?GORD

Question 43

How should GORD be managed in infants?

Answer 43

advise regarding position during feeds - 30 degree head-up ensure infant is not being overfed (as per their weight) and consider a trial of smaller and more frequent feeds a trial of thickened formula a trial of alginate therapy e.g. Gaviscon. Alginates should not be used at the same time as thickening agents

Question 44

Complications of GORD in infants?

Answer 44

distress failure to thrive aspiration frequent otitis media in older children dental erosion may occur

Question 45

What is Gastroschisis? Mx?

Answer 45

congenital defect in the anterior abdominal wall just lateral to the umbilical cord. Management: vaginal delivery may be attempted newborns should go to theatre as soon as possible after delivery, e.g. within 4 hours

Question 46

What is omphalocoele?

Answer 46

when the abdominal contents protrude through the anterior abdominal wall but are covered in an amniotic sac formed by amniotic membrane and peritoneum C section is indicated to reduce the risk of sac rupture a staged repair may be used as primary closure may be difficult due to lack of space/high intra-abdominal pressure

Question 47

How do growing pains ( benign idiopathic nocturnal limb pains of childhood ) present?

Answer 47

never present at the start of the day after the child has woken no limp no limitation of physical activity systemically well normal physical examination motor milestones normal symptoms are often intermittent and worse after a day of vigorous activity

Question 48

What is haemorrhagic disease of the newborn?

Answer 48

Vitamin K deficiency = impaired production of clotting factors Breast fed babies more at risk Maternal use of anti epileptics increases risk Now all newborns in the UK are offered vitamin K, either intramuscularly or orally

Question 49

What organism causes Hand Foot and Mouth Disease? Clinical features? Mx?

Answer 49

coxsackie A16 and enterovirus mild systemic upset: sore throat, fever oral ulcers followed later by vesicles on the palms and soles of the feet symptomatic mx reassurance no link to disease in cattle children do not need to be excluded from school

Question 50

Criteria for immediate request for CT head (children)?

Answer 50

LOC (witnessed) or Amnesia (antegrade or retrograde) > 5 minutes Abnormal drowsiness 3 + discrete episodes of vomiting Clinical suspicion of non-accidental injury Post-traumatic seizure w/o hx of epilepsy Dangerous mechanism of injury Suspicion of open or depressed skull injury or tense fontanelle Any sign of basal skull fracture (haemotympanum, panda' eyes, cerebrospinal fluid leakage from the ear or nose, Battle's sign) Focal neurological deficit GCS <14, or for a baby under 1 year < 15 on assessment in ED

Question 51

How should head lice be managed?

Answer 51

treatment is only indicated if living lice are found a choice of treatments should be offered - malathion, wet combing, dimeticone, isopropyl myristate and cyclomethicone household contacts of patients with head lice do not need to be treated unless they are also affected

Question 52

Most common cause of primary headache in children?

Answer 52

Migraine without aura

Question 53

Diagnostic criteria for paediatric migraine?

Answer 53

Headache attack lasting 4-72 hours Headache has at least two of the following four features: bilateral or unilateral (frontal/temporal) location pulsating quality moderate to severe intensity aggravated by routine physical activity At least one of the following accompanies headache: nausea/ vomiting photophobia and phonophobia

Question 54

Mx of paediatric migraine?

Answer 54

ibuprofen triptans may be used in children >= 12 years but follow-up is required

Question 55

Diagnostic criteria for tension type headache in children?

Answer 55

Headache lasting from 30 minutes to 7 days At least two of the following pain characteristics: pressing/tightening (non pulsating) quality mild or moderate intensity (may inhibit but does not prohibit activity) bilateral location no aggravation by routine physical activity Both of the following: no nausea or vomiting photophobia and phonophobia, or one, but not the other is present

Question 56

What is Hirschprung’s Disease?

Answer 56

aganglionic segment of bowel due to a developmental failure of the parasympathetic Auerbach and Meissner plexuses neonatal period : failure or delay to pass meconium older children: constipation, abdominal distension

Question 57

How can Hirschprung’s Disease be investigated and managed?

Answer 57

Ix: abdominal x-ray rectal biopsy: gold standard for diagnosis Mx: initially: rectal washouts/bowel irrigation definitive management: surgery to affected segment of the colon

Question 58

What is Homocystinuria?

Answer 58

rare autosomal recessive disease deficiency of cystathionine beta synthase= elevations in plasma and urine homocysteine concentrations Features: Marfanoid body habitus: arachnodactyly osteoporosis, kyphosis neurological: learning difficulties, seizures severe myopia malar flush, livedo reticularis

Question 59

How can homocystinuria be investigated and managed?

Answer 59

Investigations increased homocysteine levels in serum and urine cyanide-nitroprusside test: also positive in cystinuria Treatment is vitamin B6 (pyridoxine) supplements

Question 60

What is Hypospadias?

Answer 60

Congenital penile abnormality Features: a ventral urethral meatus a hooded prepuce chordee (ventral curvature of the penis) in more severe forms

Question 61

How can Hypospadias be managed?

Answer 61

corrective surgery is typically performed when the child is around 12 months of age it is essential that the child is not circumcised prior to the surgery as the foreskin may be used

Question 62

What can cause hypothyroidism in children?

Answer 62

most common cause of hypothyroidism in children is autoimmune thyroiditis post total-body irradiation (e.g. in a child treated for ALL) iodine deficiency (the most common cause in the developing world)

Question 63

Give some central causes of hypotonia (floppiness)

Answer 63

Down's syndrome Prader-Willi syndrome hypothyroidism cerebral palsy (hypotonia may precede spasticity)

Question 64

Give some neurological / muscular causes of hypotonia (floppiness)

Answer 64

spinal muscular atrophy spina bifida Guillain-Barre syndrome myasthenia gravis muscular dystrophy myotonic dystrophy

Question 65

Immune thrombocytopenic purpura (ITP) is an immune-mediated reduction in the platelet count ( type 2 hypersensitivity reaction). How does it present in kids?

Answer 65

typically more acute than in adults and may follow an infection or vaccination Features: bruising petechial or purpuric rash epistaxis or gingival bleeding

Question 66

How should ITP in kids be investigated and managed?

Answer 66

Investigation FBC- isolated thrombocytopenia blood film bone marrow examinations is only required if there are atypical features e.g. lymph node enlargement/splenomegaly, failure to respond to treatment Management usually, no treatment is required avoid contact sports

Question 67

What is infantile colic?

Answer 67

excessive crying and fussing in an otherwise healthy baby

Question 68

What are Infantile spasms?

Answer 68

Also called West syndrome type of childhood epilepsy which typically presents in the first 4 to 8 months Features characteristic 'salaam' attacks: flexion of the head, trunk and arms followed by extension of the arms this lasts only 1-2 seconds but may be repeated up to 50 times progressive mental handicap, poor prognosis

Question 69

How are infantile spasms investigated? Mx?

Answer 69

EEG shows hypsarrhythmia in two-thirds of infants CT demonstrates diffuse or localised brain disease Mx: vigabatrin first line

Question 70

What are the 5 Ss of innocent childhood murmurs?

Answer 70

Soft Short Systolic Symptomless Situation dependent, particularly if the murmur gets quieter with standing or only appears when the child is unwell or feverish

Question 71

What innocent childhood murmur is heard as a continuous blowing noise heard just below the clavicles?

Answer 71

Venous hums - Due to the turbulent blood flow in the great veins returning to the heart

Question 72

What innocent childhood murmur is heard as a low-pitched sound at the lower left sternal edge?

Answer 72

Still's murmur

Question 73

Characteristics of an innocent ejection murmur in a child include:

Answer 73

soft-blowing murmur in the pulmonary area or short buzzing murmur in the aortic area localised with no radiation no diastolic component no thrill no added sounds (e.g. clicks) asymptomatic child no other abnormality

Question 74

What causes S2 splitting on auscultation?

Answer 74

During inspiration the right side of the heart fills faster as it pulls in blood from the venous system. The increased vol in the RV causes it to take longer to empty during systole, causing a delay in the pulmonary valve closing. When the pulmonary valve closes slightly later than the aortic valve, this causes the second heart sound to be “split”.

Question 75

What is an intraventricular haemorrhage ?

Answer 75

a haemorrhage into the ventricular system of the brain, may occur spontaneously in premature neonates blood may clot and occlude CSF flow, causing hydrocephalus tx is supportive but hydrocephalus and raised ICP are an indication for shunting

Question 76

What is Intussusception? What features does it present with?

Answer 76

invagination of one portion of the bowel into the lumen of the adjacent bowel, most commonly around the ileo-caecal region Features: intermittent, crampy, progressive abdominal pain inconsolable crying during paroxysm the infant will characteristically draw their knees up and turn pale vomiting bloodstained stool - 'red-currant jelly' - is a late sign sausage-shaped mass in the right upper quadrant

Question 77

How should intussuception be investigated and managed?

Answer 77

Ix: USS: target like mass Mx: reduction by air insufflation under radiological control , peritonitis = surgery

Question 78

Jaundice in the first 24 hours is always pathological. What can cause it?

Answer 78

rhesus haemolytic disease ABO haemolytic disease hereditary spherocytosis glucose-6-phosphodehydrogenase

Question 79

Jaundice in the neonate from 2-14 days is common. What causes it?

Answer 79

usually physiological more red blood cells, more fragile red blood cells and less developed liver function

Question 80

What should be done if there are still signs of neonatal jaundice after 14 days ?

Answer 80

a prolonged jaundice screen is performed: urine for MC&S FBC, U&Es and LFTs TFTs conjugated and unconjugated bilirubin: look for biliary atresia Direct antiglobulin test (Coombs' test) Blood film

Question 81

What can cause prolonged jaundice (over 14 days)?

Answer 81

prematurity ( immature liver function) congenital infections e.g. CMV, toxoplasmosis biliary atresia breast milk jaundice (jaundice is more common in breastfed babies) galactosaemia hypothyroidism UTI

Question 82

What is kernicterus?

Answer 82

a type of brain damage caused by excessive bilirubin levels - bilirubin can cross the BBB can cause cerebral palsy, learning disability and deafness.

Question 83

How do you decide if tx is indicated for neonatal jaundice?

Answer 83

treatment threshold charts the age of the baby is plotted on the x-axis and the total bilirubin level on the y-axis. If the total bilirubin reaches the threshold on the chart, they need to be commenced on treatment to lower their bilirubin level.

Question 84

How can neonatal jaundice be managed?

Answer 84

Phototherapy is usually adequate to correct neonatal jaundice. Extremely high levels may require an exchange transfusion.

Question 85

What is Juvenile idiopathic arthritis (JIA)?

Answer 85

arthritis occurring in someone who is less than 16 years old that lasts for more than 6 weeks Systemic onset JIA is also known as Still's disease

Question 86

How does Still's disease (systemic JIA) present?

Answer 86

pyrexia salmon-pink rash lymphadenopathy arthritis uveitis anorexia and weight loss

Question 87

How can Still's disease be investigated?

Answer 87

ANA may be positive, RF usually negative

Question 88

High fever lasting >5 days, red palms with desquamation and strawberry tongue =

Answer 88

Kawasaki disease - tx is high dose aspirin and IV immunoglobulin

Question 89

Kawasaki disease is a type of vasculitis which is predominately seen in children. How does it present? Major complication?

Answer 89

high-grade fever which lasts for > 5 days conjunctival injection bright red, cracked lips strawberry tongue cervical lymphadenopathy red palms of the hands and the soles of the feet which later peel complication : coronary artery aneurysm

Question 90

What is the mnemonic to remember sxs of Kawaski disease

Answer 90

CRASH + BURN Conjunctivitis Rash Adenopathy (cervical) Strawberry tongue Hands red and peeling + BURN (5 days high fever)

Question 91

How can Kawasaki disease be investigated?

Answer 91

FBC: anaemia, leukocytosis and thrombocytosis LFTs: hypoalbuminemia and elevated liver enzymes Inflammatory markers (particularly ESR) are raised Urinalysis can show raised WCC Echocardiogram can demonstrate coronary artery pathology

Question 92

How can Kawasaki disease be managed?

Answer 92

High dose aspirin to reduce the risk of thrombosis IV immunoglobulins to reduce the risk of coronary artery aneurysms