paeds Flashcards
what is MODY?
Maturity-onset diabetes of the young (MODY)
characterised by the development of type 2 diabetes mellitus in patients < 25 years old
autosomal dominant
what sort of diet show someone with CF be on?
high calorie and high fat woth pancreatic enzyme supplmentation for every meal
what is a poor diagnosis of congential diagmphragmic hernia? (CDH)
if the liver has herniated into the chest
lung to head ratio, a ration>1 is good
is that a chance that CHD can reoccur?
yes
which side of the chest is CHD more common on?
left
85% of cases occur on the left, 13% on the right and 2% bilaterally.
what are the risk factors of CHD?
ulmonary hypertension, rather than systemic hypertension, is a risk of CDH.
There is increased risk where there is a positive family history in a sibling.
what can CHD cause?
pulmonary hypoplasia and hypertension which causes respiratory distress shortly after birth.
what is the survuval rate of CHD?
Only around 50% of newborns with CDH survive despite modern medical intervention.
Transient synovitis
Acute onset
Usually accompanies viral infections, but the child is well or has a mild fever
More common in boys, aged 2-12 years
Septic arthritis/osteomyelitis
Unwell child, high fever
Juvenile idiopathic arthritis
Limp may be painless
Development dysplasia of the hip (DDH)
a discrepancy between the skin creases behind the right and left hips
risk factors: female sex: 6 times greater risk breech presentation positive family history firstborn children oligohydramnios birth weight > 5 kg congenital calcaneovalgus foot deformity
Perthes disease
More common at 4-8 years
Due to avascular necrosis of the femoral head
Slipped upper femoral epiphysis
10-15 years - Displacement of the femoral head epiphysis postero-inferiorly.
Knee pain
what is epistaxis?
acute hemorrhage from the nostril, nasal cavity, or nasopharynx
what are the causes of epistaxis?
nose picking (most common cause)
foreign body
upper respiratory tract infection
allergic rhinitis
is epistaxis common in under 2s?
it is recommend referring children under the age of 2 years as epistaxis is rare in this age group and may be secondary to trauma or bleeding disorders.
what is Kawasaki disease?
a type of vasculitis which is predominately seen in children
features of Kawasaki disease?
high-grade fever which lasts for > 5 days. Fever is characteristically resistant to antipyretics
conjunctival injection
bright red, cracked lips
strawberry tongue
cervical lymphadenopathy
red palms of the hands and the soles of the feet which later peel
what is ther management of Kawasaki disease?
high-dose aspirin*
intravenous immunoglobulin
echocardiogram (no radiation) (rather than angiography) is used as the initial screening test for coronary artery aneurysms
what is a cause of neonatal hypotonia?
Prader-Willi
neonatal sepsis
spinal muscular atrophy (Werdnig-Hoffman disease)
hypothyroidism
age of child from newborn to a toddler
newborn=till one day 1-7 days = early neonate 7-28 days late neonate 28 days-1year = infant 1-3 yar = toddler
what is haemophilia A?
X-linked recessive so only affects the male
need two ‘affected’ x chromosomes to get it.
nots on x linked recessive
In X-linked recessive inheritance only males are affected.
An exception to this seen in examinations are patients with Turner’s syndrome, who are affected due to only having one X chromosome.
X-linked recessive disorders are transmitted by heterozygote females (carriers) and male-to-male transmission is not seen. Affected males can only have unaffected sons and carrier daughters.
Each male child of a heterozygous female carrier has a 50% chance of being affected whilst each female child of a heterozygous female carrier has a 50% chance of being a carrier.
The possibility of an affected father having children with a heterozygous female carrier is generally speaking extremely rare. However, in certain Afro-Caribbean communities G6PD deficiency is relatively common and homozygous females with clinical manifestations of the enzyme defect are seen.
features of intussusception?
paroxysmal abdominal colic pain
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
treatment of intussuception?
the majority of children can be treated with reduction by air insufflation under radiological control, which is now widely used first-line compared to the traditional barium enema
if this fails, or the child has signs of peritonitis, surgery is performed
asthema management in childern over than 5?
SABA–>ICS–>LTRA–>LABA
what is MART?
form of combined ICS and LABA treatment in which a single inhaler, containing both ICS and a fast-acting LABA, is used for both daily maintenance therapy and the relief of symptoms as required
MART is only available for ICS and LABA combinations in which the LABA has a fast-acting component (for example, formoterol)
What is transient tachypnoea of the newborn?
Transient tachypnoea of the newborn (TTN) is the commonest cause of respiratory distress in the newborn period. It is caused by delayed resorption of fluid in the lungs. No cynosis
what us the cause of transietn tachypnoea of the newborn?
common following Caesarean sections, possibly due to the lung fluid not being ‘squeezed out’ during the passage through the birth canal
investigation and managemnet og TTN?
Chest x-ray may show hyperinflation of the lungs and fluid in the horizontal fissure
Supplementary oxygen may be required to maintain oxygen saturations. Transient tachypnoea of the newborn usually settles within 1-2 days
are childron with Down’s prone to snorking?
yes, sleep apnoea
This is due to the low muscle tone in the upper airways and large tongue/adenoids. There is also an increased risk of obesity which in people with Down’s syndrome which is another predisposing factor to snoring.
causes of snoring in children?
obesity nasal problems: polyps, deviated septum, hypertrophic nasal turbinates recurrent tonsillitis Down's syndrome hypothyroidism
what is Ebstein’s anomaly?
when the posterior leaflets of the tricuspid valve are displaced anteriorly towards the apex of the right ventricle
what murmurs are heard in Ebstein’s anomaly?
tricuspid regurgitation (pan-systolic murmur) and tricuspid stenosis (mid-diastolic murmur).
does Ebstein’s anomaly cause right atrium enlargement?
yes
what causes Ebstein’s anomaly?
lithium use in pregnancy
what is Hischprung’s dosease?
a congenital abnormality causing the absence of ganglionic cells in the mycenteric and submucosal plexuses.
what are the symptons of Hirschprung’s?
delayed passage of meconium (> 2 days after birth), abdominal distension and bilious vomiting.
treatment of hirschprung’s?
daily rectal washouts
anorectal pull-through
what is the definitive investigation of Hirschprung’s?
rectal biopsy
Malrotation
High caecum at the midline
Feature in exomphalos, congenital diaphragmatic hernia, intrinsic duodenal atresia
May be complicated by the development of volvulus, an infant with volvulus may have bile stained vomiting
Diagnosis is made by upper GI contrast study and USS
Treatment is by laparotomy, if volvulus is present (or at high risk of occurring then a Ladd’s procedure is performed
Intussusception
Telescoping bowel
Proximal to or at the level of, ileocaecal valve
6-9 months of age
Colicky pain, diarrhoea and vomiting, sausage-shaped mass, red jelly stool.
Treatment: reduction with air insufflation
Pyloric stenosis
M>F
5-10% Family history in parents
Projectile non bile stained vomiting at 4-6 weeks of life
Diagnosis is made by test feed or USS
Treatment: Ramstedt pyloromyotomy (open or laparoscopic)
Hirschsprung’s disease
Absence of ganglion cells from myenteric and submucosal plexuses
Occurs in 1/5000 births
Full-thickness rectal biopsy for diagnosis
Delayed passage of meconium and abdominal distension
Treatment is with rectal washouts initially, after that an anorectal pull through procedure
Oesophageal atresia
Associated with tracheo-oesophageal fistula and polyhydramnios
May present with choking and cyanotic spells following aspiration
VACTERL associations
Meconium ileus
Usually delayed passage of meconium and abdominal distension
The majority have cystic fibrosis
X-Rays will not show a fluid level as the meconium is viscid, PR contrast studies may dislodge meconium plugs and be therapeutic
Infants who do not respond to PR contrast and NG N-acetyl cysteine will require surgery to remove the plugs
Biliary atresia
Jaundice > 14 days
Increased conjugated bilirubin
Urgent Kasai procedure
Necrotising enterocolitis
Prematurity is the main risk factor
Early features include abdominal distension and passage of bloody stools
X-Rays may show pneumatosis intestinalis and evidence of free air
Increased risk when empirical antibiotics are given to infants beyond 5 days
Treatment is with total gut rest and TPN, babies with perforations will require laparotomy
what is the classic presentation of primary amenorrhoea?
androgen insensitivity
what is androgen insensitivity?
This is a genetic disorder that makes XY fetuses insensitive (unresponsive) to androgens (male hormones). Instead, they are born looking externally like normal girls
Would Non-Hodgkin’s lymphom give groin swelling?
yes
Disorders of sex hormones?
Klinefelter’s syndrome
Klinefelter’s syndrome is associated with karyotype 47, XXY
Features often taller than average lack of secondary sexual characteristics small, firm testes infertile gynaecomastia - increased incidence of breast cancer elevated gonadotrophin levels
Diagnosis is by chromosomal analysis
Kallman’s syndrome
Kallman’s syndrome is a recognised cause of delayed puberty secondary to hypogonadotrophic hypogonadism. It is usually inherited as an X-linked recessive trait. Kallman’s syndrome is thought to be caused by failure of GnRH-secreting neurons to migrate to the hypothalamus.
The clue given in many questions is lack of smell (anosmia) in a boy with delayed puberty
Features
‘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
Cleft lip/palate and visual/hearing defects are also seen in some patients
Androgen insensitivity syndrome
Androgen insensitivity syndrome is an X-linked recessive condition due to end-organ resistance to testosterone causing genotypically male children (46XY) to have a female phenotype. Complete androgen insensitivity syndrome is the new term for testicular feminisation syndrome
Features
‘primary amenorrhoea’
undescended testes causing groin swellings
breast development may occur as a result of conversion of testosterone to oestradiol
Diagnosis
buccal smear or chromosomal analysis to reveal 46XY genotype
Management
counselling - raise child as female
bilateral orchidectomy (increased risk of testicular cancer due to undescended testes)
oestrogen therapy
what is rotavirus vaccine?
an oral, live attenuated vaccine
2 doses for babies aged 8 and 12 weeks
what is the rotavirue vaccine a risk of?
intussusception
treatment of pneumonia in children?
Amoxicillin is first-line for all children with pneumonia
Macrolides (erythromycin) may be added if there is no response to first line therapy
Macrolides should be used if mycoplasma or chlamydia is suspected
In pneumonia associated with influenza, co-amoxiclav is recommended
cerebral palsy
defined as a disorder of movement and posture due to a non-progressive lesion of the motor pathways in the developing brain.
causes of cerebral palsy?
antenatal (80%): e.g. cerebral malformation and congenital infection (rubella, toxoplasmosis, CMV)
intrapartum (10%): birth asphyxia/trauma
postnatal (10%): intraventricular haemorrhage, meningitis, head-trauma
features of cerebral palsy?
abnormal tone early infancy
delayed motor milestones
abnormal gait
feeding difficultie.
other motor problems associated with cerebral palsy?
learning difficult
squint
epilepsy
hearing impariment
management of cerebral palsy?
multidisciplinary apparoach
diazepam (oral) and intrathecal baclofen
head lice
Diagnosis
fine-toothed combing of wet or dry hair
Management
treatment is only indicated if living lice are found
a choice of treatments should be offered - malathion, wet combing, dimeticone, isopropyl myristate and cyclomethicone
School exclusion is not advised for children with head lice
Roseloa infantum
Roseola infantum is caused by Herpes virus 6. It is characterised by a 3-5 day high fever followed by a 2 day maculopapular rash which starts on the chest and spreads to the limbs. This generally occurs as the fever is disappearing.
febrile convulsions occur in around 10-15%
HHV6 infection
aseptic meningitis
hepatitis
Roseloa infantum
Plagiocephaly
parallelogram shaped head
the incidence of plagiocephaly has increased over the past decade. This may be due to the success of the ‘Back to Sleep’ campaign
Craniosynostosis
premature fusion of skull bones
Acute lymphoblastic leukaemia
Acute lymphoblastic leukaemia (ALL) is the most common malignancy affecting children and accounts for 80% of childhood leukaemias. The peak incidence is at around 2-5 years of age and boys are affected slightly more commonly than girls
Features may be divided into those predictable by bone marrow failure:
anaemia: lethargy and pallor
neutropaenia: frequent or severe infections
thrombocytopenia: easy bruising, petechiae
And other features
bone pain (secondary to bone marrow infiltration)
splenomegaly
hepatomegaly
fever is present in up to 50% of new cases (representing infection or constitutional symptom)
testicular swelling
what is genetic anticipATION?
The signs and symptoms of some genetic conditions tend to become more severe and appear at an earlier age as the disorder is passed from one generation to the next.
what disease have genetic anticipation?
Huntington’s and Myotonic dystrophy
Fragile X (CGG) Huntington's (CAG) myotonic dystrophy (CTG)
spinocerebellar ataxia
spinobulbar muscular atrophy
dentatorubral pallidoluysian atrophy
Duchenne muscular dystrophy is an X-linked recessive condition.
Marfan syndrome is an autosomal dominant condition.
Homocystinuria is inherited in an autosomal recessive manner.
Trisomy 21 is due to an extra copy of chromosome 21. This can occur due to non-disjunction at meiosis, Robertsonian translocation or mosaicism.
Duchenne muscular dystrophy is an X-linked recessive condition.
Marfan syndrome is an autosomal dominant condition.
Homocystinuria is inherited in an autosomal recessive manner.
croup
Epidemiology
peak incidence at 6 months - 3 years
more common in autumn
Parainfluenza viruses account for the majority of cases.
Features stridor barking cough (worse at night) fever coryzal symptoms
Management
CKS recommend giving a single dose of oral dexamethasone (0.15mg/kg) to all children regardless of severity
prednisolone is an alternative if dexamethasone is not available
Emergency treatment
high-flow oxygen
nebulised adrenaline
Nocturnal enuresis
The majority of children achieve day and night time continence by 3 or 4 years of age. Enuresis may be defined as the ‘involuntary discharge of urine by day or night or both, in a child aged 5 years or older, in the absence of congenital or acquired defects of the nervous system or urinary tract’
Look for possible underlying causes/triggers (e.g. Constipation, diabetes mellitus, UTI if recent onset)
desmopressin may be used first-line for children over the age 7 years, particularly if short-term control is needed or an enuresis alarm has been ineffective/is not acceptable to the family
new born hearing test
Otoacoustic emission test
if abnormal then use Auditory Brainstem Response test
distraction test is carried out at 6-9 months
Slipped capital femoral epiphysis?
classically seen in obese boys. It is also is known as slipped upper femoral epiphysis. Common in adolescence.
Features
hip, groin, medial thigh or knee pain
loss of internal rotation of the leg in flexion
bilateral slip in 20% of cases
Investigation
AP and lateral (typically frog-leg) views are diagnostic
Management
internal fixation: typically a single cannulated screw placed in the center of the epiphysis
Seborrhoeic dermatitis
Seborrhoeic dermatitis is a relatively common skin disorder seen in children. It typically affects the scalp (‘Cradle cap’), nappy area, face and limb flexures.
Cradle cap is an early sign which may develop in the first few weeks of life. It is characterised by an erythematous rash with coarse yellow scales.
Management depends on severity
mild-moderate: baby shampoo and baby oils
severe: mild topical steroids e.g. 1% hydrocortisone
CF , can cause pancreatic insufficiency
Cystic fibrosis (CF) can give rise to pancreatic insufficiency and consequently steatorrhoea caused by gastrointestinal malabsorption of fats. CF also classically affects the lungs resulting in persistent pulmonary infections. While the majority of new cystic fibrosis (CF) diagnoses are detected very early in life in the UK (via newborn screening), there is a small percentage of children, adolescents and adults who receive a late diagnosis.
It is also important to remember that not all countries test for CF as part of their neonatal screening program. For example, in Germany, only approximately 15% of neonates are tested for cystic fibrosis in regional research programs and voluntary early-detection program.
Although type 1 diabetes mellitus is more commonly seen in patients with coeliac disease (due to the auto-immune nature of both conditions), the recurrent chest infections would not be typical of coeliac disease.
features of CF in children?
neonatal period (around 20%): meconium ileus, less commonly prolonged jaundice
recurrent chest infections (40%)
malabsorption (30%): steatorrhoea, failure to thrive
other features (10%): liver disease
Paediatric basic life support
Compression:Ventilation ratios
Adults 30:2
Paeds 15:2
Neonates 3:1
neonatal respiratory distress syndrome (NRDS)
Prematurity is the major risk factor for NRDS. Caesarean section is the major risk factor for tachypnoea of the newborn (TTN). Meconium staining is the major risk factor for aspiration pneumonia.
Neonates with NRDS usually present with respiratory distress shortly after birth which usually worsens over the next few days. In contrast, TTN usually presents with tachypnoea shortly after birth and often fully resolves within the first day of life. A chest radiograph can be useful. In NRDS the characteristic features are a diffuse ground glass lungs with low volumes and a bell-shaped thorax. In TTN the CXR depicts a heart failure type pattern (e.g. interstitial oedema and pleural effusions) but key distinguishing features from congenital heart disease are a normal heart size and rapid resolution of the failure type pattern within days.
Meconium staining is the major risk factor for?
aspiration pneumonia
round glass apearance on x-ray?
Neonates with NRDS
Hirschsprung’s disease
is a congenital bowel disease, which is five times more likely to occur in boys than girls. and associated with downs.
It usually presents with bilious vomiting, abdominal distension, constipation and failure to pass meconium in the first 48 hours.
Hirschsprung disease may not present until childhood or adolescence. Colon biopsy demonstrates an aganglionic segment of bowel.
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
puberty in girls
Boobs, Pubes, Grow, Flow
first sign is breast development 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)
there is an increase of only about 4% of height following menarche
when is asthema life-theratening?
SpO2 <92% PEF <33% best or predicted Silent chest Poor respiratory effort Agitation Altered consciousness Cyanosis
bronchiolitis
A lower respiratory tract infection commonly caused by respiratory syncytial virus
epidemiology of bronchiolitis?
most common cause of a serious lower respiratory tract infection in < 1yr olds (90% are 1-9 months, with a peak incidence of 3-6 months).
Maternal IgG
provides protection to newborns against RSV
higher incidence in winter
features of bronchiolitis
coryzal symptoms (including mild fever) precede:
dry cough
increasing breathlessness
wheezing, fine inspiratory crackles (not always present)
feeding difficulties associated with increasing dyspnoea are often the reason for hospital admission
management of bronchiolitis
humidified oxygen is given via a head box and is typically recommended if the oxygen saturations are persistently < 92%
nasogastric feeding may be needed if children cannot take enough fluid/feed by mouth
suction is sometimes used for excessive upper airway secretions
Maternal anti-epileptic use during pregnancy can cause what?
orofacial clefts
causes of orofacial clefts?
smoking, benzodiazepine use, anti-epileptic use, rubella infection
trisomies 18, 13 and 15
features of patent ductus arteriosus?
left subclavicular thrill
continuous ‘machinery’ murmur
large volume, bounding, collapsing pulse
wide pulse pressure
heaving apex beat
treatment is indomethacin (prostalglandin)
Mx of PDA
indomethacin (inhibits prostaglandin synthesis) closes the connection in the majority of cases
if associated with another congenital heart defect amenable to surgery then prostaglandin E1 is useful to keep the duct open until after surgical repair
Parainfluenza virus : Croup RSV : Bronchiolitis Pseudomonas aeruginosa : pseudomonas Streptococcus pneumoniae : Pneumonia Bordetella pertussis : Whooping cough
fh
features of benign murmur?
may vary with posture localised with no radiation no diastolic component no thrill no added sounds (e.g. clicks) asymptomatic child no other abnormality
what is decompressin?
a synthetic replacement for vasopressin or antidiuretic hormone
Sudden infant death syndrome risk factors?
prone sleeping parental smoking bed sharing hyperthermia and head covering prematurity
suden infant death syndrome protective factors?
breastfeeding
room sharing (but not bed sharing, which is a significant risk factor)
the use of dummies (pacifiers)
features of hypernatraemic dehydration?
jittery movements increased muscle tone hyperreflexia convulsions drowsiness or coma
features of shock?
Decreased level of consciousness
Cold extremities
Pale or mottled skin
Tachycardia Tachypnoea Weak peripheral pulses Prolonged capillary refill time Hypotension
features of dehydration?
Sunken eyes Dry mucous membranes Tachycardia Tachypnoea Normal peripheral pulses Normal capillary refill time Reduced skin turgor Normal blood pressure
5 Ts of cyanotic congenital heart disease?
Tetralogy of fallot Transposition of great vessels (TGA) Tricuspid atresia Total anomalous pulmonary venous return Truncus arteriosus
The most likely cause for constipation developing at this age is dietary. It would therefore be useful to provide dietary advice (e.g. increasing fibre and fluid intake). Other lifestyle advice such as increasing activity level should also be provided.
A laxative would also be very useful, and would be indicated due to the progressively worsening constipation. An osmotic laxative should be prescribed initially as the stool is likely to be hard. A stimulant laxative may also be required, but only once the stools are soft.
The frequency at which children open their bowels varies widely, but generally decreases with age from a mean of 3 times per day for infants under 6 months old to once a day after 3 years of age.
Hand, foot and mouth disease
Management
symptomatic treatment only: general advice about hydration and analgesia
reassurance no link to disease in cattle
children do not need to be excluded from school*
Reflex anoxic seizures have a rapid recovery unlike epileptic seizures
Collapse, jerking, stiffness and cyanosis can all occur in both epilepsy and reflex anoxic seizures. Reflex anoxic seizures typically have a quick recovery, where as epileptic seizures typically have a prolonged recovery.
Reflex anoxic seizure describes a syncopal episode (or presyncope) that occurs in response to pain or emotional stimuli. It is thought to be caused by neurally-mediated transient asystole in children with very sensitive vagal cardiac reflexes. It typically occurs in young children aged 6 months to 3 years
Typical features child goes very pale falls to floor secondary anoxic seizures are common rapid recovery
APGAR score
activity pulse grimance appearance reflex
Cow’s milk protein intolerance/allergy
Both immediate (IgE mediated) and delayed (non-IgE mediated) reactions are seen
Features regurgitation and vomiting diarrhoea urticaria, atopic eczema 'colic' symptoms: irritability, crying wheeze, chronic cough rarely angioedema and anaphylaxis may occur
Management
extensive hydrolysed formula (eHF) milk is the first-line replacement formula for infants with mild-moderate symptoms
amino acid-based formula (AAF) in infants with severe CMPA or if no response to eHF
around 10% of infants are also intolerant to soya milk
Whooping cough
caused by the Gram-negative bacterium Bordetella pertussis
Paroxysmal cough.
Inspiratory whoop.
Post-tussive vomiting.
Undiagnosed apnoeic attacks in young infants.
an oral macrolide (e.g. clarithromycin, azithromycin or erythromycin) within the first 21 days of symptoms
A jittery and hypotonic baby
suggest neonatal hypoglycaemia
or
the use of maternal opiates or illicit drug use in pregnancy
Meconium aspiration syndrome
Meconium aspiration syndrome refers to respiratory distress in the newborn as a result of meconium in the trachea. It occurs in the immediate neonatal period. It is more common in post-term deliveries, with rates of up to 44% reported in babies born after 42 weeks. It causes respiratory distress, which can be severe. Higher rates occur where there is a history of maternal hypertension, pre-eclampsia, chorioamnionitis, smoking or substance abuse.
Chest X-ray shows patchy infiltrations and atelectasis
features of Turners symdrom?
short stature
shield chest, widely spaced nipples
webbed neck
bicuspid aortic valve (15%), coarctation of the aorta (5-10%)
primary amenorrhoea
cystic hygroma (often diagnosed prenatally)
high-arched palate
short fourth metacarpal
multiple pigmented naevi
lymphoedema in neonates (especially feet)
gonadotrophin levels will be elevated
hypothyroidism is much more common in Turner’s
horseshoe kidney: the most common renal abnormality in Turner’s syndrome
Precocious puberty
development of secondary sexual characteristics before 8 years in females and 9 years in males’
May be classified into:
- 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
Retinoblastoma
Pathophysiology
autosomal dominant
caused by a loss of function of the retinoblastoma tumour suppressor gene on chromosome 13
around 10% of cases are hereditary
Possible features
absence of red-reflex, replaced by a white pupil (leukocoria) - the most common presenting symptom
strabismus
visual problems
Management
enucleation is not the only option
depending on how advanced the tumour is other options include external beam radiation therapy, chemotherapy and photocoagulation
Prognosis
excellent, with > 90% surviving into adulthood
Caput succedaneum
a subcutaneous, extraperiosteal, collection of fluid that collects as the result of pressure on the baby’s head during delivery.
crosses the suture line
cephalohaematoma
a haemorrhage between the skull and periosteum. Because the swelling is subperiosteal, it’s limited by the boundaries of the baby’s cranial bones.
Focal neurological deficit
is a problem with nerve, spinal cord, or brain function. It affects a specific location, such as the left side of the face, right arm, or even a small area such as the tongue. Speech, vision, and hearing problems are also considered focal neurological deficits.
Juvenile idiopathic arthritis
Joint pain with a salmon-pink rash is characteristic of juvenile idiopathic arthritis
mx: Immunosuppression > biological therapy/methotrexate
- NSAIDS
- Joint injection> first line treatment for oligoarticular JIA (affecting up to 4 joints)
- Cytokine modulators
describes arthritis occurring in someone who is less than 16 years old that lasts for more than 6 weeks. Systemic onset JIA is a type of JIA which is also known as Still’s disease
Features of systemic onset JIA include pyrexia salmon-pink rash lymphadenopathy arthritis uveitis anorexia and weight loss
Investigations
ANA may be positive, especially in oligoarticular JIA
rheumatoid factor is usually negative
croup
Mild croup:
Occasional barking cough with no stridor at rest
No or mild recessions
Well looking child
Moderate croup:
Frequent barking cough and stridor at rest
Recessions at rest
No distress
Severe croup: Prominent inspiratory stridor at rest Marked recessions Distress, agitation or lethargy Tachycardia
Neonatal hypoglycaemia causes?
maternal diabetes mellitus prematurity IUGR hypothermia neonatal sepsis inborn errors of metabolism nesidioblastosis Beckwith-Wiedemann syndrome
normal fetal blood glucose values?
> 2.5 mmol/L
At what age would the average child acquire the ability to sit without support?
6-8 months
Urinary tract infection in children: features, diagnosis and management, UTI
Presentation in childhood depends on age:
infants: poor feeding, vomiting, irritability
younger children: abdominal pain, fever, dysuria
older children: dysuria, frequency, haematuria
features which may suggest an upper UTI include: temperature > 38ºC, loin pain/tenderness
Infants less than 3 months old should be referred immediately to a paediatrician
children aged more than 3 months old with an upper UTI should be considered for admission to hospital. If not admitted oral antibiotics such as cephalosporin or co-amoxiclav should be given for 7-10 days
children aged more than 3 months old with a lower UTI should be treated with oral antibiotics for 3 days according to local guidelines, usually trimethoprim, nitrofurantoin, cephalosporin or amoxicillin. Parents should be asked to bring the children back if they remain unwell after 24-48 hours
antibiotic prophylaxis is not given after the first UTI but should be considered with recurrent UTIs
Chicken pox
Rare complications include
pneumonia
encephalitis (cerebellar involvement may be seen)
disseminated haemorrhagic chickenpox
arthritis, nephritis and pancreatitis may very rarely be seen
Chickenpox is highly infectious spread via the respiratory route can be caught from someone with shingles infectivity = 4 days before rash, until 5 days after the rash first appeared* incubation period = 10-21 days
Management is supportive
keep cool, trim nails
calamine lotion
school exclusion: NICE Clinical Knowledge Summaries state the following: Advise that the most infectious period is 1–2 days before the rash appears, but infectivity continues until all the lesions are dry and have crusted over (usually about 5 days after the onset of the rash).
immunocompromised patients and newborns with peripartum exposure should receive varicella zoster immunoglobulin (VZIG). If chickenpox develops then IV aciclovir should be considered
Cystic fibrosis can cause diabetes mellitus
Out of the options available, only cystic fibrosis can cause the development of diabetes. Cystic fibrosis presents in childhood with respiratory symptoms, but as the disease progresses, further features begin to develop. If the pancreas becomes affected, then diabetes mellitus can develop. It can take time for the pancreas to be affected enough to cause diabetes, which is why children with cystic fibrosis may develop diabetes later in life.
