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
