Paediatric Common Conditions 4 Flashcards
What is Phenylketonuria (PKU)?
an autosomal recessive condition caused by a disorder of phenylalanine metabolism
usually due to defect in phenylalanine hydroxylase, an enzyme which converts phenylalanine to tyrosine
What features does PKU present with?
usually presents by 6 months e.g. with developmental delay
child classically has fair hair and blue eyes
learning difficulties
seizures, typically infantile spasms
eczema
‘musty’ odour to urine and sweat
How can PKU be diagnosed?
Guthrie test: the ‘heel-prick’ test done at 5-9 days of life - also looks for other biochemical disorders such as hypothyroidism
hyperphenylalaninaemia
phenylpyruvic acid in urine
What is phimosis? How should it be managed?
a non-retractile foreskin and/or ballooning during micturition
child under 2 = expectant approach should be taken in case this is physiological phimosis which will resolve in time
child over 2 + recurrent balanoposthitis or urinary tract infection = intervention
Give some signs of pneumonia in children
Tachypnoea (raised respiratory rate)
Tachycardia (raised heart rate)
Hypoxia (low oxygen)
Hypotension (shock)
Fever
Confusion
What might you hear on examination of the chest in a child with pneumonia?
Bronchial breath sounds : harsh breath sounds that are equally loud on inspiration and expiration, caused by consolidation of the lung tissue around the airway
Focal coarse crackles : caused by air passing through sputum similar to using a straw to blow into a drink
Dullness to percussion: due to lung tissue collapse and/or consolidation
What is the most likely causative agent of a bacterial pneumonia in children?
What are the other causes?
streptococcus pneumoniae
Group A strep (e.g. Streptococcus pyogenes)
Group B strep: often contracted during birth as it often colonises the vagina
Staphylococcus aureus: typical chest xray findings of pneumatocoeles (round air filled cavities) and consolidations in multiple lobes
Haemophilus influenza : particularly affects pre-vaccinated or unvaccinated children
Mycoplasma pneumonia: atypical bacteria with extra-pulmonary manifestations (e.g. erythema multiforme)
What are the viral causes of pneumonia in kids?
Respiratory syncytial virus (RSV) is the most common viral cause
Parainfluenza virus
Influenza virus
How should pneumonia be managed in children?
Amoxicillin is first-line
Macrolides (e.g. erythromycin) may be added if there is no response to first line therapy / if mycoplasma or chlamydia is suspected
pneumonia associated with influenza =co-amoxiclav
How can you investigate children with recurrent LRTIs?
FBC- WCC
Serum immunoglobulins
Test IgG to previous vaccines (i.e. pneumococcus and haemophilus) -some patients are unable to convert IgM to IgG, and therefore cannot form long term immunity
Sweat test for CF
HIV test
CXR to screen for any structural abnormality in the chest or scarring from the infections
What is Prader-Willi syndrome?
associated with the absence of the active Prader-Willi gene on the long arm of chromosome 15
Features:
hypotonia during infancy
dysmorphic features, short stature
hypogonadism and infertility
learning difficulties
childhood obesity
behavioural problems in adolescence
What is episodic viral wheeze? How should it be managed?
only wheezes when has a viral URTI and is symptom free inbetween episodes
Mx:
first-line is treatment with SABA (e.g. salbutamol) or anticholinergic via a spacer
next step is intermittent leukotriene receptor antagonist (montelukast), intermittent ICS, or both
What is multiple trigger wheeze? How should it be managed?
as well as viral URTIs, other factors appear to trigger the wheeze such as exercise, allergens and cigarette smoke
Mx: trial of either ICS or a leukotriene receptor antagonist (montelukast), typically for 4-8 weeks
parents should stop smoking
What is precocious puberty?
‘development of secondary sexual characteristics before 8 years in females and 9 years in males’
more common in females
How can precocious puberty be classified?
- Gonadotrophin dependent (‘central’, ‘true’)
due to premature activation of the hypothalamic-pituitary-gonadal axis
FSH & LH raised - Gonadotrophin independent (‘pseudo’, ‘false’)
due to excess sex hormones
FSH & LH low
Signs of puberty in males?
first sign is testicular growth at around 12 years of age (range = 10-15 years)
testicular volume > 4 ml indicates onset of puberty
maximum height spurt at 14
Signs of puberty in females?
first sign is breast development (thelarche) at around 11.5 years of age (range = 9-13 years)
height spurt reaches its maximum early in puberty (at 12) before menarche
menarche at 13 (11-15)
Pulmonary hypoplasia is a term used for newborn infants with underdeveloped lungs. What can cause it?
oligohydramnios
congenital diaphragmatic hernia
Pyloric stenosis is caused by hypertrophy of the circular muscles of the pylorus. What features does it present with?
‘projectile’ vomiting, typically 30 minutes after a feed
constipation and dehydration may also be present
a palpable mass may be present in the upper abdomen
hypochloraemic, hypokalaemic alkalosis due to persistent vomiting
What is a reflex anoxic seizure?
a syncopal episode (or presyncope) that occurs in response to pain or emotional stimuli, occurs in children aged 6months - 3 years
Typical features
child goes very pale
falls to floor
rapid recovery
What is the most common ocular malignancy found in children?
Retinoblastoma
How does retinoblastoma present?
autosomal dominant
absence of red-reflex, replaced by a white pupil (leukocoria) - the most common presenting symptom
strabismus
visual problems
How can retinoblastoma be managed?
enucleation
external beam radiation therapy
chemotherapy and photocoagulation
Rickets is a term that describes inadequately mineralised bone in developing and growing bones, usually due to Vitamin D deficiency.
What are the predisposing factors?
dietary deficiency of calcium e.g. in developing countries
prolonged breastfeeding
unsupplemented cow’s milk formula
lack of sunlight
How may Rickets present?
aching bones and joints
lower limb abnormalities:
in toddlers genu varum (bow legs)
in older children - genu valgum (knock knees)
‘rickety rosary’ - swelling at the costochondral junction
kyphoscoliosis
craniotabes - soft skull bones in early life
Harrison’s sulcus
How can Rickets be investigated and managed?
Investigations:
low vitamin D levels
reduced serum calcium - symptoms may results from hypocalcaemia
raised ALP
Management:
oral vitamin D
What is Roseola infantum? Features?
sixth disease
common disease of infancy caused by the human herpes virus 6 (HHV6)
Features:
high fever: lasting a few days, followed later by a
maculopapular rash
Nagayama spots: papular enanthem on the uvula and soft palate
diarrhoea and cough commonly seen
What is Scarlet fever?
Reaction to Group A haemolytic strep (usually strep pyogenes)
typically presents with:
fever: typically lasts 24 to 48 hours
malaise, headache, nausea/vomiting
sore throat
‘strawberry’ tongue
rough sandpaper rash
Describe the Scarlet fever rash
rough sandpaper like rash
‘pinhead’, appears first on the torso and spares the palms and soles
more prominent in flexures
How should Scarlet Fever be investigated and managed?
a throat swab is normally taken but antibiotic treatment should be commenced immediately, rather than waiting for the results
Management:
oral penicillin V for 10 days
penicillin allergy = azithromycin
children can return to school 24 hours after commencing antibiotics
notifiable disease
