Paediatric Common Conditions 2 Flashcards
What is cystic fibrosis?
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
Name some organisms that may colonise CF patients
Staphylococcus aureus
Pseudomonas aeruginosa
Burkholderia cepacia
Aspergillus
How is CF diagnosed?
Sweat test:
patient’s with CF have abnormally high sweat chloride
normal value < 40 mEq/l, CF indicated by > 60 mEq/l
What can cause a false positive sweat test?
malnutrition
adrenal insufficiency
glycogen storage diseases
nephrogenic diabetes insipidus
hypothyroidism, hypoparathyroidism
G6PD
ectodermal dysplasia
What can cause a false negative sweat test?
skin oedema, often due to hypoalbuminaemia/ hypoproteinaemia
What features may CF present with?
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
How can CF be managed?
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
What is the contraindication to lung transplantation in CF?
chronic infection with Burkholderia cepacia
What are the key referral points for developmental delays?
doesn’t smile at 10 weeks
cannot sit unsupported at 12 months
cannot walk at 18 months
What are the common causes of developmental gross motor problems?
variant of normal, cerebral palsy and neuromuscular disorders (e.g. Duchenne muscular dystrophy)
What are the risk factors for developmental dysplasia of the hip? (DDH)
female sex: 6 times greater risk
breech presentation
positive family history
firstborn children
oligohydramnios
birth weight > 5 kg
congenital calcaneovalgus foot deformity
What screening is available for DDH?
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
Outline the Barlow and Ortolani tests
Barlow test: attempts to dislocate an articulated femoral head
Ortolani test: attempts to relocate a dislocated femoral head
How should suspected DDH be investigated in a child > 4.5 months?
X-ray ( as opposed to USS earlier on)
How can DDH be managed?
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
Most common cause of gastroenteritis in the UK?
rotavirus
What is the usual course of D&V in kids?
diarrhoea usually lasts for 5-7 days and stops within 2 weeks
vomiting usually lasts for 1-2 days and stops within 3 days
What are signs of clinical dehydration in children who have had prolonged D&V?
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
What are signs of shock in children who have had prolonged D&V?
Decreased level of consciousness
Cold extremities
Pale or mottled skin
Tachycardia
Tachypnoea
Weak peripheral pulses
Prolonged capillary refill time
Hypotension
Features suggestive of hypernatraemic dehydration:
jittery movements
increased muscle tone
hyperreflexia
convulsions
drowsiness or coma
When should you do a stool culture in children with diarrhoea?
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
How should you manage children with D&V who are becoming dehydrated?
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)
Causes of chronic diarrhoea in infants?
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
Klinefelter’s syndrome is associated with karyotype 47, XXY. What features does it present with?
often taller than average
lack of secondary sexual characteristics
small, firm testes
infertile
gynaecomastia - increased incidence of breast cancer
elevated gonadotrophin levels
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?
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
Give the key clinical features of Down’s syndrome
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
What are the possible cardiac complications of Down’s syndrome?
endocardial cushion defect (most common)
ventricular septal defect
secundum atrial septal defect
tetralogy of Fallot
isolated patent ductus arteriosus
What are the possible complications of Down’s syndrome later in life?
learning difficulties
repeated respiratory infections (+hearing impairment from glue ear)
subfertility
hypothyroidism
acute lymphoblastic leukaemia
atlantoaxial instability
Alzheimer’s disease
What monitoring may be required for children with Down’s syndrome?
Regular thyroid checks (2 yearly)
Echocardiogram to diagnose cardiac defects
Regular audiometry for hearing impairment
Regular eye checks
What is Duchenne muscular dystrophy? How does it present?
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
How can Duchenne muscular dystrophy be investigated and managed?
Investigation:
raised creatinine kinase
genetic testing
Mx: supportive
patients typically survive to around the age of 25-30 years
associated with dilated cardiomyopathy
What is Ebstein’s anomaly ? How does it present?
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
How does eczema present in children?
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
How can eczema be managed in children?
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
What is Epstein’s pearl?
congenital cyst found in the mouth, usually resolves spontaneously
What are febrile convulsions?
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
When are febrile convulsions considered complex?
when they consist of partial or focal seizures, last more than 15 minutes or occur multiple times during the same febrile illness
DDx for febrile convulsions?
Epilepsy
Meningitis, encephalitis
Intracranial SOL, e.g. brain tumours or intracranial haemorrhage
Syncopal episode
Electrolyte abnormalities
Trauma
How should febrile convulsions be managed?
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
How does fetal alcohol syndrome present?
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
What is the commonest cause of vomiting in infancy?
Gastro-oesophageal reflux
Infant < 8 weeks, presents with milky vomits after feeds, often after being laid flat, excessive crying –>
?GORD
How should GORD be managed in infants?
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
Complications of GORD in infants?
distress
failure to thrive
aspiration
frequent otitis media
in older children dental erosion may occur
What is Gastroschisis? Mx?
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
What is omphalocoele?
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
How do growing pains ( benign idiopathic nocturnal limb pains of childhood ) present?
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
What is haemorrhagic disease of the newborn?
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
What organism causes Hand Foot and Mouth Disease? Clinical features? Mx?
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
Criteria for immediate request for CT head (children)?
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
How should head lice be managed?
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
Most common cause of primary headache in children?
Migraine without aura
Diagnostic criteria for paediatric migraine?
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
Mx of paediatric migraine?
ibuprofen
triptans may be used in children >= 12 years but follow-up is required
Diagnostic criteria for tension type headache in children?
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
What is Hirschprung’s Disease?
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
How can Hirschprung’s Disease be investigated and managed?
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
What is Homocystinuria?
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
How can homocystinuria be investigated and managed?
Investigations
increased homocysteine levels in serum and urine
cyanide-nitroprusside test: also positive in cystinuria
Treatment is vitamin B6 (pyridoxine) supplements
What is Hypospadias?
Congenital penile abnormality
Features:
a ventral urethral meatus
a hooded prepuce
chordee (ventral curvature of the penis) in more severe forms
How can Hypospadias be managed?
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
What can cause hypothyroidism in children?
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)
Give some central causes of hypotonia (floppiness)
Down’s syndrome
Prader-Willi syndrome
hypothyroidism
cerebral palsy (hypotonia may precede spasticity)
Give some neurological / muscular causes of hypotonia (floppiness)
spinal muscular atrophy
spina bifida
Guillain-Barre syndrome
myasthenia gravis
muscular dystrophy
myotonic dystrophy
Immune thrombocytopenic purpura (ITP) is an immune-mediated reduction in the platelet count ( type 2 hypersensitivity reaction). How does it present in kids?
typically more acute than in adults and may follow an infection or vaccination
Features:
bruising
petechial or purpuric rash
epistaxis or gingival bleeding
How should ITP in kids be investigated and managed?
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
What is infantile colic?
excessive crying and fussing in an otherwise healthy baby
What are Infantile spasms?
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
How are infantile spasms investigated? Mx?
EEG shows hypsarrhythmia in two-thirds of infants
CT demonstrates diffuse or localised brain disease
Mx: vigabatrin first line
What are the 5 Ss of innocent childhood murmurs?
Soft
Short
Systolic
Symptomless
Situation dependent, particularly if the murmur gets quieter with standing or only appears when the child is unwell or feverish
What innocent childhood murmur is heard as a continuous blowing noise heard just below the clavicles?
Venous hums - Due to the turbulent blood flow in the great veins returning to the heart
What innocent childhood murmur is heard as a low-pitched sound at the lower left sternal edge?
Still’s murmur
Characteristics of an innocent ejection murmur in a child include:
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
What causes S2 splitting on auscultation?
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”.
What is an intraventricular haemorrhage ?
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
What is Intussusception? What features does it present with?
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
How should intussuception be investigated and managed?
Ix: USS: target like mass
Mx: reduction by air insufflation under radiological control , peritonitis = surgery
Jaundice in the first 24 hours is always pathological. What can cause it?
rhesus haemolytic disease
ABO haemolytic disease
hereditary spherocytosis
glucose-6-phosphodehydrogenase
Jaundice in the neonate from 2-14 days is common. What causes it?
usually physiological
more red blood cells, more fragile red blood cells and less developed liver function
What should be done if there are still signs of neonatal jaundice after 14 days ?
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
What can cause prolonged jaundice (over 14 days)?
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
What is kernicterus?
a type of brain damage caused by excessive bilirubin levels - bilirubin can cross the BBB
can cause cerebral palsy, learning disability and deafness.
How do you decide if tx is indicated for neonatal jaundice?
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.
How can neonatal jaundice be managed?
Phototherapy is usually adequate to correct neonatal jaundice. Extremely high levels may require an exchange transfusion.
What is Juvenile idiopathic arthritis (JIA)?
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
How does Still’s disease (systemic JIA) present?
pyrexia
salmon-pink rash
lymphadenopathy
arthritis
uveitis
anorexia and weight loss
How can Still’s disease be investigated?
ANA may be positive, RF usually negative
High fever lasting >5 days, red palms with desquamation and strawberry tongue =
Kawasaki disease - tx is high dose aspirin and IV immunoglobulin
Kawasaki disease is a type of vasculitis which is predominately seen in children.
How does it present?
Major complication?
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
What is the mnemonic to remember sxs of Kawaski disease
CRASH + BURN
Conjunctivitis
Rash
Adenopathy (cervical)
Strawberry tongue
Hands red and peeling
+ BURN (5 days high fever)
How can Kawasaki disease be investigated?
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
How can Kawasaki disease be managed?
High dose aspirin to reduce the risk of thrombosis
IV immunoglobulins to reduce the risk of coronary artery aneurysms
