Paeds (Lectures) Flashcards
What investigation is not clinically useful in children <3 months with a UTI?
Urine Dipstick.
Urine MCS is needed.
What should you always do if a child <3 months presents with a fever?
Admit them.
What investigations should you carry out in a child <5 years p/w a fever?
FBC
Blood Cultures
Urine Cultures
CRP
Consider a Lumbar Puncture
Why would you always consider a LP in a febrile child <5 years, but not always in adults?
Children have a weaker Blood Brain Barrier, so are more susceptible to CNS infections.
E.g, meningitis, meningococcal septicaemia, encephalitis
What extra investigations may you do for a child presenting with:
- Diarrhoea
- Abdominal Pain
- Productive Cough
- Stool sample
- Stool sample/CRP/Lactate
- Sputum sample
Why is it important to complete a full course of IV Cefuroxime prior to swapping to Trimethoprim?
To prevent drug resistances developing.
What investigations should you consider in a young child with recurrent UTIs?
Blood glucose levels/HbA1c
US Kidneys (1st)
MCUG (Micturating Cystogram) (Gold standard)
Why would it be necessary to perform a US Kidneys in a child with recurrent UTIs?
To check for a pyelonephritis, ureteroceles or kidney damage
What is a Micturating Cystogram (MCUG)?
A contrast dye is inserted into the bladder using a catheter. Whilst a XRKUB is taken the catheter is removed, allowing the urination of the contrast. The contrast dye shows any retrograde flow of urine into the bladder, ureters or kidneys.
Or alternatively, shows normal micturition.
What common, congenital urinary tract abnormality may be found using a MCUG?
Vesicoureteral reflux
- The retrograde flow of urine from the bladder to the ureters +/- kidneys during micturition, through a faulty vesicoureteric junction.
What may a MCUG show in an infant with Vesicoureteral reflux?
MCUG showing bilateral ureteroceles, with strictures within the ureters
How does Vesicoureteral reflux cause damage?
The urine that backflows into the ureters becomes stuck after completing urination. The pooling of urine dilates the ureters and causes damage. This can build up over time causing ureteroceles or hydronephrosis. Bacteria colonises the pooled urine and causes UTIs.
How common is Vesicoureteral reflux in a healthy child?
The prevalence is estimated to be between 0.4%-2% in the general population
How common is Vesicoureteral Reflux in children with recurrent UTIs?
The prevalence can reach 30% in some populations.
How may a fever affect a child with epilepsy?
Increased number of fits and/or increased fit intensity.
Is osteomyelitis more common in adults or children? and why is this thought to be?
Children (especially 10 years and under)
In children, the metaphysis is highly vascularised, which can result in the hematogenous seeding of bacteria into the bone from nearby areas of infection.
e.g cellulitis, infected wounds
What is a common cause of osteomyelitis in adults?
Trauma with an open fracture.
What is differential diagnosis for osteomyelitis?
Septic Arthritis
What is the minimum time length of treatment for osteomyelitis?
Six weeks
A switch from IV to PO can be made, if PO can be maintained with good compliance
Why might PO Abx compliance be an issue in young children?
PO Abx don’t taste nice, so it can be hard to make children take it.
OPAT is an alternative option.
What is OPAT? (antibiotic treatment option)
Outpatient parenteral antimicrobial therapy
Patients visit hospital once weekly for an IV dose of antibiotic. Beneficial when long-term Abx courses are required where compliance is an issue.
How may a child with meningitis present?
Fever
(semi-)comatose
Purple rash on skin
What is the name of the rash often present in meningitis?
A purple, non-blanching rash
What is the difference between petechiae and purpura?
They are both types of skin rash caused by bleeding under the skin.
Petechiae are less than 0.5cm in size, purpura are greater than 0.5cm
Petechiae are often flat, whereas purpura are often larger, raised lesions.
What causes a non-blanching rash in meningitis?
DIC
What is the first line treatment for suspected bacterial meningitis or meningococcal sepsis?
IV Cefotaxime
Why is Cefotaxime preferred to Cefuroxime in meningitis, but not in UTIs?
Cefotaxime crosses the Blood Brain Barrier more than Cefuroxime, so is better for treating infections within the CNS.
Therefore, Cefuroxime is a better antibiotic for systemic infections due to this property.
What investigations should be done in suspected meningitis?
Blood cultures
EDTA blood samples for PCR analysis
(EDTA is an anticoagulant helpful in preserving samples for PCR)
Lumbar puncture for CSF analysis (Can be delayed)
When should treatment be started for suspected meningitis?
Immediately
Why may it be necessary to delay a LP?
Raised ICP -> May lead to coning
- Can be indicated by papillodema on fundoscopy
The patient may be too unstable at the time to warrant a LP.
What antibiotics may be given as prophylaxis to family members of someone with meningitis?
Ciprofloxacin or rifampicin
What must you do after confirming a diagnosis of meningitis?
Inform the local Health Protection Unit (PHE)
How many a child with pneumonia present?
Normally fit and well
Febrile
SoB
What other infections must be reported to PHE?
All meningitis, all invasive meningococcal and all encephalitis.
If a blood culture shows bacterial growth in a suspected pneumonia, what should the next investigation be?
CXR
From what week of pregnancy is a birth no longer classed as premature?
37 weeks.
What may a ‘gush of fluid vaginally’ signify at 20 weeks of pregnancy?
Prelabour rupture of membranes (PROM)
What is the chance of delivery following membrane rupture at 20 weeks gestation?
50% chance of delivery in the next 7 days.
What is a common complication of membrane rupture?
Chorioamnionitis
What is Chorioamnionitis?
Bacterial infection of the:
Chorion,
Amnion,
Or amniotic fluid around the fetus
(Or all of the above)
What are symptoms of Chorioamnionitis?
Maternal fever
Maternal or fetal tachycardia
Pelvic soreness
Cervical drainage
Foul smelling amniotic fluid.
How can the risk of chorioamnionitis be reduced following PROM?
Erythromycin for 10 days.
From what age are premature babies resuscitated?
22 weeks
Survival rates in neonates sub 23 weeks are low (30% at Jessops). What intervention can be given in the perinatal period to improve this possibility?
12mg betamethasone, 24hrs apart. Hopefully up to 24 hours before delivery.
What is the trend in the possibility in being discharged alive from the neonatal unit in babies born at 23 weeks?
The more days spent in the NICU, the higher the probability of survival to discharge.
30% of survival on day 1, raising to ~90% by day 50 and almost 100% by day 100.
If given to the mother within 24hrs prebirth, what can be given as neuroprotection to give a 30% reduction in risk of cerebral palsy?
IV MgSO4
Approximately what percentage of newborn infants require admission for neonatal care?
10%
Approximately what percentage of newborns require full intensive care?
3%
What are the 3 mainstays of fetal wellbeing?
Is the fetus moving?
What is the size of the fetus? (steady increase in bump size in comparison to term length)
Heartbeat and fetal bloodflow
How can the heartbeat of a fetus be easily checked?
Auscultation
How can fetal bloodflow be assessed?
Doppler US
What is classed as a very low birth weight?
<1500g
What is classed as extremely low birth weight?
<1000g
What is classed as incredibly low birth weight?
<750g
What is the purpose of surfactant?
Allows breathing without alveolar collapse using water tension.
Where is surfactant stored until birth?
Type II Pneumocytes.
From what week does alveolar development occur?
Week 24, exponentially.
When does Alveolar development stop?
From birth, regardless of term length.
What is a common pulmonary condition in prematurely-born people?
Chronic lung disease of prematurity.
Chronic lung disease is common in people born prematurely, why?
Alveolar development stops from birth, so if a baby is born prematurely then they will not have formed the same number of alveoli as a full term baby. This reduces the surface area for gaseous exchange in the lungs, leading to a chronic lung disease for life.
From when is surfactant produced?
It begins around 26 weeks.
Where is surfactant produced?
The endoplasmic reticulum of type II pneumocytes.
What is a common mode of death in infants <24 weeks premature?
Respiratory Distress Syndrome. Lack of alveolar gaseous exchange facilities.
What can worsen lung damage in neonates?
High dose oxygen
Sepsis
Ventilation
How may Respiratory Distress Syndrome appear on the CXR of a neonate?
Absence of clear heart and diaphragmatic borders.
Diffuse, white opacity in the lung fields.
Why do the lung fields appear with diffuse white opacity in CXRs in Respiratory Distress Syndrome?
There are no/minute amounts of alveoli in the lungs, so there is no place for air in the lungs. Air appears black on an xray, the tissue occupying the space appears white.
When does the brainstem become myelinated?
32-34 weeks
What is a neuro-respiratory complication of being born <32-34 weeks?
Apnoea of prematurity.
It is not uncommon to ‘forget’ to breathe and is frequently associated with bradycardia.
What can worsen apnoea of prematurity?
Sepsis.
How can Apnoea of prematurity be treated?
NCPAP
Respiratory stimulants (analeptic drugs)
- Under expert supervision in hospital only.
Phospodiesterase inhibitors - sildenafil
Give an example of an analeptic drug.
Caffeine citrate - reduces the frequency of neonatal apnoea and the need for mechanical ventilation during the first 7 days of treatment.
What respiratory stimulants can be used to prevent respiratory distress syndrome in neonates.
One cause of RDS in neonates can be due to the birth before surfactant has been made, thus it cannot be released
Pulmonary surfactants derived from animal lungs can be given to prevent and treat RDS
- Beractant
- Poractan alfa
What can be a cause of an overly enlarged skull in newborns?
Ventricular Haemorrhage.
What percentage of babies <32 weeks have small ventricular bleeds?
Around 14%
What percentage of babies <32 weeks have large ventricular bleeds?
Around 6%
White opacities on the scans indicate blood.
Why is a small ventricular bleed not as detrimental as a large ventricular bleed in neonates?
Blood in the ventricles in a neonate only occupies the space that CSF will eventually occupy (not made until 35th week), so its presence is not the issue.
The issue lies with a large volume of blood being present within the ventricle and NOT within the circulating volume.
The total volume of blood in a neonate is 80mls/kg, so having a large bleed of even only 10mls will remove a significant amount of the total circulating volume, leaving the baby extremely anaemic and with sufficient blood for organ perfusion in the early stages of life.
What percentage of babies have a normal brain US <32 weeks?
80%
What is a relatively uncommon finding in babies brains at <32 weeks?
Cystic Periventricular Leukomalacia
~5%
What is Cystic Periventricular Leukomalacia?
The presence of cysts that have developed in the periventricular white matter.
These cysts interrupt the cerebrospinal pathways descending from the primary motor cortex through the internal capsule around the thalamus, an UMN lesion.
The handicap depends on the location and number of cysts - disability can range from monoplegia of a single limb or area to spastic quadraplegia.
What is the optimal method of newborn feeding?
Breastfeeding.
Why are premature babies support with IV fluids and parental nutrition instead of breastfeading?
The ability to suck and swallow starts from 32-34
Why are high levels of UNconjugated bilirubin dangerous in neonates?
It causes Kernicterus.
What can cause high levels of UNconjugated bilirubin in neonates?
Haemolysis
Prematurity
Sepsis
Dehydration
Hypothyroid
Various Metabolic disease
How can high levels of UNconjugated bilirubin be treated?
Phototherapy (blue light, 450nm)
Or exchange transfusions.
Old wives tale used to say ‘if a newborn is born yellow put them on a window ledge in the sun and it will get rid of the yellow and prevent disability. - its true :)
What is Kernicterus?
A brain dysfunction or damage that happens in the perinatal period due to high levels of UNconjugated bilirubin.
It can cause:
Cerebral Palsy,
Hearing and vision loss,
Dental problems,
Intellectual disabilities.
It is rare, but preventable.
Are high levels of conjugated bilirubin in neonates a worry?
No
What can cause high levels of conjugated bilirubin in neonates?
Prolonged parenteral nutrition,
Sepsis
NEC
Anatomical issues
When does jaundice in a neonate need to be investigated?
If it lasts longer than 3 weeks.
What pathological finding can be seen in deceased infants with high UNconjugated bilirubin levels?
Yellow staining of the basal ganglia.
If they had survived, they would have lifelong terrible movement disorders.
What is the most common gastrointestinal emergency in newborns?
Necrotising enterocolitis (NEC)
What is NEC?
A condition characterised by ischaemic necrosis of the bowel, mainly the terminal ileum and colon - although it can affect the whole GI tract - leading to perforation and massive abdominal infection
What can cause NEC?
Inflammation of the bowel in response to infection
Disruption of bloodflow to the bowel
How can NEC be treated?
IV fluids and TPN,
NG to remove stomach contents,
Complete bowel rest to allow the GI tract to heal,
Surgery may be necessary to repair the intestines.
What can reduce the incidence of NEC?
Breastfeeding/Breast milk
Why is sepsis more common the more premature the infant?
Active IgG transfer from the mother occurs in the last 3 months of gestation - The more premature, the less IgG transfer can occur.
Premature infants often have many invasive procedures, increasing the likelihood of infection.
Why might fungal sepsis occur in a premature newborn?
As a result of many courses of antibiotics wiping out normal flora, creating a fungal-friendly environment.
What is a potential complication of Hyperoxic insult in premature infants?
Retinopathy of prematurity
What can retinopathy of prematurity lead to?
Retinal haemorrhage -> retinal detatchment -> Blindness
(reason Stevie Wonder is blind)
Why is blindness as a result of retinopathy of prematurity now rare and largely preventable?
Ophthalmologists routinely screen premature infants for it - anti endothelial growth factor can be injected into the vitreous fluid if it is suspected to prevent abnormal vascular growth in the retina.
What are the 3 core symptoms of ADHD?
Inattention
Impulsivity
Hyperactivity
Many children will have these at times, but persistence that impacts daily life is ADHD
Describe the epidemiology of ADHD.
5% of school aged children
M:F = 4:1
Describe the aetiology of ADHD.
Genetic and environmental.
Neuroanatomical and neurochemical factors.
CNS insults e.g. FAS or premature.
ADHD core behaviours: give 3 signs of hyperactivity.
Fidgety.
Talkative.
Noisy.
Can’t remain seated.
ADHD core behaviours: give 3 signs of impulsivity.
Blurts out answers.
Interrupts.
Difficulty waiting turns.
When older, pregnancy and drug use.
ADHD core behaviours: give 3 signs of inattention.
Easily distracted.
Not listening.
Mind wandering.
Struggling at school.
Forgetful.
Organisational problems.
Describe the treatment for ADHD.
Education.
Parenting programmes and school support.
Medications e.g. methylphenidate
Why is it important to do a cardiac assessment before prescribing medications to help treat a child with ADHD.
Some ADHD medications can affect HR and BP and so it is important to do a cardiac assessment first.
Describe the epidemiology of ASD.
1% prevalence.
Boys>girls.
Give 4 signs of ASD.
Communication problems.
Social interaction difficulties.
Social imagination difficulties.
Sensory issues.
What proportion of <16yrs have epilepsy?
1/200
0.5%
What percentage of all school aged children have epilepsy?
0.7-0.8%
What is the misdiagnosis rate of epilepsy in children?
30%
What percentage of kids with epilepsy have well controlled epilepsy?
70%~
What percentage of kids with epilepsy have continuing seizures despite treatment?
25-30%
What percentage of kids with epilepsy have significant seizures that affect daily life and function
~5%
Give an example of a CVS cause of a non-epileptic seizure in young children.
Reflex Anoxic Seizures (RAS)
What is RAS? (Reflex Anoxic Seizures)
A neurocardiogenic cause of non-epileptic seizures that can occur at any age, but mostly in 6months-2 year olds. A sudden pain or emotional stimulus causes an infant to be ‘shocked’ and start to cry. They start to hold their breath and become anoxic, causing a seizure.
What is the prognosis for RAS?
It is not life threatening as they will begin to breath again shortly after losing consciousness and seizing. Most will grow out of it with age.
How common is RAS?
~8/1000 children, 4% of seizures <5yrs.
How may a <3months old present with a UTI?
Fever
Irritable
How may a urine sample be collected in <3months old?
Cotton wool in nappies to soak up urine (not ideal)
External collection bag (Okay but can leak easily and not easy to attach)
Catheterise and collect a sample (Good)
Suprapubic aspirate (Gold standard - although it is never done, catheter method instead)
What congenital renal abnormalities may you find on an US/MCUG?
Horseshoe kidney
Duplex kidney
What is a horse shoe kidney?
Where ‘both’ kidneys are connected in the shape of a horseshoe
What is a duplex renal defect?
An extra ureter coming from a kidney.
Name a congenital, post-bladder outflow obstruction found in males that can cause urinary reflux.
Congenital (/posterior) intraurethral valve
A membrane found in the urethra of some males than cause narrowing or blockage of the urethra.
What is the most common cause of nephrotic syndrome in children?
Minimal change disease (/nephropathy)
What is the most common cause of nephrotic syndrome in adults?
Membranous glomerulo-nephropathy.
What is IgA GN associated with?
IgA vasculitis - causes IgA deposition in the glomerulus resulting a nephritic syndrome
What is henoch-schonlein purpura?
A skin vasculitis disorder, causing a non-blanching, purpuric rash and IgA deposition around the body (kidneys, joints). More common in children.
What is faltering growth?
Failure to gain adequate weight or achieve adequate growth during infancy or early childhood
A significant interruption in the expected rate of growth compared with other children of similar age/sex (centiles).
What do you do first if suspecting faltering growth?
Weigh the infant/child
Measure their length (birth to 2 yrs)
OR height (>2yrs)
Plot these on the UK WHO growth charts to assess weight change & linear growth over time
Is it common for neonates to lose weight in the early days of life?
Yes - neonates will lose weight in the first days of life and usually stops around 3-4 days of life.
Most infants have returned to their birth weight by 3 weeks of age.
When should you be worried that a newborn has lost too much weight in the early days of life?
More than 10% of their birth weight.
Perform a clinical assessment and history to assess feeding with/w/ direct feeding observation
Further invs only if indicated.
Offer feeding support (appropriatley trained persons)
What do you initially do in children >2 yrs which you are concerned about growth?
Calculate the BMI and BMI centile
Give four medical risk factors for faltering growth.
Congenital abnormalities (cerebral palsy, autism, T21)
Development delay
Gastroesophageal reflux
Low birth weight/prematurity
Poor oral health
Give four psychosocial risk factors for faltering growth.
Disordered feeding techniques
Family stressors
Parental/FHx of abuse/violence in the house
Poor parenting skills
Poverty
Give four potential examination findings of faltering growth.
Dysmorphic appearance (genetic/undiagnosed syndrome)
Oedema (renal/liver disease)
Hair colour/texture (zinc deficiency)
Heart murmur (cardiac defect)
Wasting (neuro, cerebral palsy?)
What can result in faltering growth?
Energy balance mismatch
What are the four main areas causing energy balance mismatches?
Not enough food in
Not enough absorbed
Too much energy used
Abnormal central control of growth/appetite
Give 3 examples of not enough food in in children.
Ineffective feeding
Feeding aversion
Physical disorders affecting feeding
Give examples of ineffective feeding in children.
Ineffective suckling
Ineffective bottle feeding
Poor feeding patterns/routines being used
Physical disorders that affect feeding
Give 2 examples of causes for feeding aversion in children.
Gastroesophageal reflux (Common)
Dental carries
History of abuse by feeder
How can gastroesophageal reflux cause feeding aversion?
It is one of the commonest presentations for <1yr olds.
If the baby feeds on only milk, then reflux is usually not an issue as the stomach contents are quite neutral due to alkaline nature of milk - most infants will have reflux of some form.
If the stomach contents are more acidic with reflux, this causes a burning sensation and pain (heartburn) in the infant.
The infant is unable to communicate this to the parent/feeder, and begins to associate feeding with this pain.
The infant will refuse to feed out of fear of burning pain.
Why is gastroesophageal reflux common in infants?
Like most of the body’s systems in an infant, the GI tract is quite immature at birth, reflux-preventing sphincters may be incompetent and lead to reflux, especially if laying down after feeding or consuming large amounts of food.
Is reflux in an infant worrying?
No - most will grow out of it as their GI tract develops.
How can dental caries cause feeding aversion?
The same as reflux, except the pain is caused by food in the mouth touching sensitive dental carries.
What investigations may be done in feeding aversion?
Upper GI endoscopy - look for congenital abnormalities that could affect feeding
pH studies - pH probes at varying levels of oesophagus to determine if pH is abnormally high due to bad reflux.
What interventions may be used in children with serious concerns of faltering growth?
MDT review
Enteral tube feeding
Gastrostomy
Aim of reversing all interventions as they grow older and become increasingly tolerable of oral intake of solids.
Give four examples of insufficient food absorption in children.
Coeliac disease
Anaemia (iron def, b12/folate - pernicious)
Biliary atresia
Chronic GI conditions (infections, IBS)
Milk protein allergy
Cystic Fibrosis
What is the most common cause of iron deficiency anaemia in children?
Drinking lots of cows milk.
Is all coeliac disease damaging to infants?
No - ‘Coeliac Iceberg’
What is cow milk protein allergy?
An allergic response to a protein in cows milk causing:
Rash on face (eczema)
Irritated
Pruritus
Vomiting
Lip/tongue swelling
Iron deficiency anaemia
What alternative can be used in cows milk protein allergy?
Pasteurised milk instead of formula (amino acids formula if symptoms persist)
Nutragen
Give four examples of too much energy use (Increase metabolism) in faltering growth.
Chronic infections (HIV, TB)
Chronic lung disease of prematurity
Congenital heart disease
Hyperthyroid
Inflammatory conditions (asthma, IBD)
Give an example of an inflammatory cause of faltering growth.
Crohn’s disease
Give some features of Crohn’s disease.
Can affect the whole GI tract
Ulcers (commonly mouth but anywhere in GI tract)
Intermittent loose stools
Weight loss and poor appetite
Raised inflammatory markers
Give 3 causes of abnormal growth control.
RARE CAUSES
Growth hormone pathologies
Thyroid dysfunction
Psychosocial influence
Should you admit infants/children with faltering growth?
Generally, no.
Only admit if acutely unwell or there is a requirement for admission to begin a new treatment plan - eg plan to begin tube feeding
What is the most important hormone for growth of neonates (<28days)?
Thyroid hormone
What can low thyroid hormones in neonates cause?
Cretinism - ‘to be a cretin’
Congenital iodine deficiency syndrome - CIDS
What can cause cretinism?
Congenital iodine deficiency syndrome - CIDS
Low iodine in pregnancy/neonatal dietary iodine causes a lack of thyroxine. Low thyroxine causes the excessive release of TSH, which stimulates the thyroids functions.
How may an infant with cretinism present?
Lethargy
Feeding difficulties
Constipation and jaundice
Impaired physical and mental development
Periorbital oedema
As a child grows, how does its body proportions change?
Body surface area to weight ratio decreases
Limbs grow in size quicker than the body trunk
What is a sign of hypochondroplasia/achondroplasia?
Short limbs
What may long legs and a short back be a sign of in a child?
Delayed puberty.
What is the most likely cause of a sudden increase in head circumference in a neonate?
Abnormal intracranial pressure caused by an intracranial bleed.
The fontanelles and cranial sutures are not yet fixed in a neonate, so a bleed may increase the ICP and push the bones outwards more. This could lead to hydrocephalous in the future and the space occupied by the blood may never shrink.
What should you say at the end of a paeds osce to look smart?
I would also like to plot height, weight and head circumference on an age appropriate growth chart.
What are growth charts?
A graph where you can plot length, weight, age and familial stature facts.
Why are growth charts considered to be flawed?
They are outdated (humans are bigger now than when they were developed)
They are based on white children from the UK
Different charts for boys and girls are used
What may a familial short stature indicate?
The child is likely to grow into a small build (be short)
How may a constitutional delay in puberty/growth affect height?
Likely to have a late growth spurt.
What is height velocity?
The rate at which heigh increases.
Heigh velocity = change in height/years between measurements
Describe the Hypothalamic - Pituitary Axis (HPA).
When is puberty considered to have started in males?
When a testicular volume of 4mls is reached.
When is puberty considered to have started in females?
Thelarche
- Beginning of breast development (breast bud noted/palpable, enlargement of areola)
How can hypogonadism be categorised?
Primary - problem arising in the gonads
Secondary - problem arising in the pituitary
Tertiary - problem arising in the hypothalamus
Give two examples of primary hypogonadism.
Klinefelter’s syndrome
Turner’s syndrome
What is klinefelter’s syndrome, and how may it present?
47 XXY, affecting 1/1000 males (often underrecognised)
Tall stature and osteoporosis,
Azoospermia and gynaecomastia,
Reduced secondary sexual hair
Reduced IQ in 40% of cases
What is a possible complication of gynaecomastia in Klinefelter’s syndrome?
A 20-fold increased risk of breast cancer.
What is Turner’s syndrome, and how may it present?
A syndrome affecting growth and pubertal development.
Short stature, neck webbing, broad chest and small mandible
Oedema of the hands and feet at birth
CVS malformations are common
Renal malformations are common (horseshoe kidney)
Recurrent otitis media is common
How else may primary hypogonadism be described?
Hypergonadotrophin hypogonadism
High GnRH low sex hormones
Give some examples of secondary/tertiary hypogonadism.
Intracranial tumours (eg pituitary)
Chemo/radio therapy
Prader Willi syndrome
Trauma
Malnutrition
Marijuana
What is precocious puberty? (PP)
‘True’ precocious puberty is early puberty (<8yrs female,<9yrs male).
It affects 1/5000-10 000 people.
90% of cases are female
Is ‘true’ precocious puberty a problem?
No
What is precocious pseudopuberty? (PPP)
Gonadtropin-independent production of excess sex hormones.
Often produced from the gonads, the adrenal glands or other ectopic or exogenous sources
THINK neoplasms.
Give two causes of precocious pseudopuberty in females.
Ovarian Cysts - most common
- functioning follicular cysts can secrete oestrogen and can present as premature thelarche. Vaginal bleeding may also occur after cysts degenerate.
Ovarian Tumours (granulosa cell, Sertoli/leydig cell, gonadoblastoma) - granulosa cell most common sex cord tumour in girls, and associated with excess oestrogen production (isosexual PP). Others named can lead to androgen production and contrasexual PP
Give two causes of precocious pseudopuberty in males.
Leydig cell tumours - most common testicular cord-stromal tumour, associated with excess testosterone production - presents in asymmetrical testicular growth and PP betwen 6-10yrs
Human Chorionic Gonadotropin-Secreting (hCG) tumours - excess hCG production from testicular tumours and ectopic sites, leading to PPP in boys.
Give some common ectopic sources sites of sex hormones.
Pineal gland
Mediastinum
Liver
Retroperitoneum
Adrenals
What may a positive pregnancy test in males be a sign of?
hCG secreting tumours!!
What is bone age a marker of?
Skeletal maturity
What can delayed bone age be a sign of?
GH deficiency
What can advanced bone age be a sign of?
Precocious puberty
What is the biggest exertion for babies?
Coordinating breathing with feeding.
- their equivalent of a jog
“Are they panting/sweaty/SoB when feeding?”
What may this growth chart suggest?
Child abuse at home - growth rate normal whilst in care but severely drops when the infant is at home.
Usually seen over age 3
What are two common neurological problems in children?
Migraines/headaches
Epilepsy
What are cerebral palsies?
A Group of developmental disorders of movement and posture.
Give four ways movement and tone can be affected in cerebral palsies.
Spastic
Ataxic
Hypotonic
Dystonic
Give 3 groups that cerebral palsies can be categorised into which describe the distribution of the palsy.
Monoplegic
Hemiplegic
Quadraplegic
What can vary between people with a cerebral palsy?
The severity.
What is a common co-morbidity in cerebral palsies?
Epilepsy.
Can cerebral palsies progress?
Yes - The palsy can ‘progress’ with age as new functions cannot be obtained unlike in people without cerebral palsies.
What is a rare but life threatening complication of a dystonic cerebral palsy?
Status dystonicus (niche)
What is status dystonicus?
A rare but life threatening movement disorder emergency, mainly triggered by infections and medication adjustments.
Characterised by the development of increasingly frequent or continuous severe episodes of generalised dystonic spasms or spasticity.
(widespread and severe muscle contractions, causing abnormal posturing, repetitive twisting motions or both)
(Niche)
How can status dystonicus be managed?
Very rare with few reported cases, so varying treatments used to varying success and failure.
Identify the trigger and adapt current healthcare plans.
IV fluid resuscitation,
Sedation in HDU/ICU is most effective immediate management.
Intrathecal baclofen has been tried to varying levels of success
What can intrathecal baclofen be used to manage in adults?
MS
How many swallowing issues in a cerebral palsy be managed?
PICC line to PN/TPN
How many over production of secretions in cerebral palsies be managed?
Injection of Botulinum toxins (BoTox) into the salivary glands.
What are the 3 areas in the aetiology of cerebral palsy?
Pre-natal
Peri-natal
Post-natal
What period of life are cerebral palsies most likely to occur?
Between 24 weeks gestation and birth (peri-natal)
Give 3 Pre-natal causes of cerebral palsy.
Preterm birth
Infections
Genetic components
Give 3 Peri-natal causes of cerebral palsy.
Amnionitis
Meningitis
Encephalitis
Give 3 post-natal causes of cerebral palsy.
Stroke
Traumatic Brain Injury
Hypoxic Ischaemic Encephalopathy
What are the 4 main areas of focus in cerebral palsy management?
Musculoskeletal Management
Medical Management
Surgical Management
Feeding Management
Give 3 methods of MSK management in cerebral palsy.
Positioning/posturing training
Splinting joints/limbs
Casting joints/limbs
Give 3 methods of medical management in cerebral palsy.
Anticholinergics - spasm control
Diazepams - spasm control
Botulinum toxins - excessive secretion production
Baclofen - severe spasticity management
Give 3 methods of surgical management in cerebral palsy.
Tendon lengthening
Dorsal rhizotomy (selective surgical cutting of problematic nerve roots in the spinal cord)
Intrathecal baclofen pump implantation
Give 2 methods of feeding management in cerebral palsy.
Nutritional assessment with dieticians
PEG feeding
Give 3 examples of cerebral palsy masquerades.
Spinal dysraphism (spina bifida)/occult spinal cord
Segawa disease (GTPCH1-deficient dopa-responsive dystonia (GTPCH1-DRD) - can live a near normal life)
Hereditary spastic paraplegia
Give four types of seizures.
Focal
Asbcent
Myoclonic
Tonic clonic
What is rolandic epilepsy?
The most common focal onset of epilepsy
Facial or perioral onset with secondary generalisation
EEG shows centroltemporal region spikes
What is childhood absence epilepsy?
A brief arrest of speech and activity.
It often has post-ictal confusion, as they do not recall the event.
It could be an explanation for academic failure
EEG may show 3Hz spikes and slow wave activity.
What investigations may be done in an epilepsy work up?
EEG - poor predictive value unless done during an episode
Imaging - required in the absence of obvious aetiology
Karyotyping
Further metabolic and neurometabolic workup
How can epilepsy be managed?
Anti-epileptic drugs (eg sodium valporate, levetiracetam (Keppra), phenytoin, carbamazepine)
Epilepsy surgery - if any area of the brain can be proven to be the exact location causing focal seizures it can be removed if it would improve QoL.
Vagal-nerve stimulation - if patient has an aura it can be activated to abort seizures
Counselling and daily life advice
How can a headache be classified?
Acute or chronic.
Give causes of an acute headache.
Common:
- Illness with fever
- Meningitis
- Trauma
Rare:
- SAH bleed
- Intracranial AVMs
- Space occupying lesions, tumours
Give causes of chronic headaches.
Common:
- Tension
- Migraine
- Poor lifestyle (lack of sleep, increased screen time, stress etc)
What are Red Flags for headaches?
New, sudden onset
Thunderclap/worst ever
Young child <7yrs
Neurological symptoms
Hx of developmental delay
How can headaches be managed?
Lifestyle changes - better sleep, food, fluids, exercise, decrease stress
Pharmacological (mainly migraines) - analgesics, triptans, topiramate, propranolol
Imaging/LP - look for cause/opening pressure of LP
Give 2 examples of Dystrophinopathies.
Duchenes Muscular Dystrophy (DMD)
Beckers
What is DMD?
A progressive degenerative neuromuscular condition
X-linked recessive (Xp21.2) - mutation in the dystrophin gene.
Muscle weakness typically starts from age 2-3yrs.
May have chronic lung disease later in life due to muscle weakening in respiratory muscles.
What sign may be seen in dystrophinopathies?
Gower’s sign - climbing up themselves.
What treatments are available for DMD?
Corticosteroids
Supportive treatment
Atalauren (restores ability to synthesise dystrophin)
Gene therapy in the future.
What is Wilson’s disease?
A movement disorder characterised by a tremoring/worsening hand coordination, caused by abnormal copper retention and deposition in the body.
May have depression or anger outbursts
Kayser-fleischer rings are golden rings visible in the iris, caused by copped deposition.
What is chorea?
A movement disorder/dyskinesia characterized by rapid, jerky involuntary movements.
What is Sydenham’s chorea?
An autoimmune chorea caused by group A streptococcus infection (rheumatic fever)
Sometimes called rheumatic chorea.
What is a classic feature of Sydenham’s chorea?
Milkmaid grip.
What can cause chorea?
Vascular disease of the basal ganglia.
What is diabetes?
A chronic, metabolic disease characterised by elevated blood glucose.
Describe the normal function of the pancreas and liver in the homeostasis of glucose.
Give 5 types of diabetes.
Type 1
Type 2
Gestational diabetes
MODY
Neonatal
LADA (latent autoimmune diabetes in adults (type 1 1/2)
Describe the aetiology of type 1 diabetes.
An autoimmune disease causing destruction of the insulin producing beta cells in the pancreas. Associated with HLA types DR3 and DR4.
What is the estimated prevalence of Type 1 diabetes?
204.5/100 000 (Eng+wales)
What ages are the two peaks of incidence of Type 1 Diabetes?
4-5yr olds
10-11yr olds
What are the common presenting symptoms of Type 1 diabetes?
Polyuria
Polydipsia
Weight loss
Tiredness
(4Ts - toilet, thirsty, tired, thinner)
What time of year are Type 1diabetes (and LADA) presentations most common?
Around christmas.
Lots of social gatherings occur at this time of year and viral infections typically spread more around this time of year.
Viral infection can trigger the autoimmune response that causes diabetes.
What are some risk factors for type 1 (And LADA) diabetes?
FHx
Genetics
Geography and environment
Age (young)
How many T1DM present in an emergency case?
DKA - or may present compensating.
If suspected, the diagnosis shouldn’t be made based on waiting for HbA1c or OGTT.
What is the incidence of T2DM in children?
Low, but rising.
In 2000 there were no recorded cases of T2DM in children, in 2015 there were 0.72/100 000. In 2020/21 973 cases had been reported according to NPDA (national paediatric diabetes audit).
What are common co-morbidities often found at diagnosis of T2DM?
HTN (44%)
Kidney disease (25%).
What is a possible finding in obese children that is associated with diabetes?
Acanthosis Nigrans - a sign of insulin resistance development.
Give 4 risk factors for childhood type 2 diabetes.
Obesity
Non-white ethnicity
Deprivation
More common in girls
What are two diagnostic tests for type 2 diabetes?
Symptoms +:
Random venous plasma glucose >/= 11.1mmol/l, OR
Fasting plasma glucose >/= 7.0mmol/l, OR
Oral glucose tolerance test (OGTT)
Why is HbA1c not a diagnostic test?
A value of 48mmol/mol is the lowest cut off point for diagnosing diabetes. However a value of <48mmol/mol does not exclude diabetes diagnosed using glucose tests.
What is the HbA1c range for pre-diabetes?
42-48mmol/mol
What are pros and cons to continuous glucose monitoring (CGM)?
They are good, but not as good as a finger prick as they measure the glucose levels in surrounding interstitial fluid not the blood.
You can connect your phone and monitor/receive notifications if the glucose levels are high or low.
What is the initial management for T1DM (not in DKA)?
Sub-cut insulin:
- 0.5-0.8 units/kg/day
- ~50% given as long acting insulin
- ~50% as rapid acting for meals (10% breakfast, 20%
for lunch and tea)
What is the treatment for T1DM in acute DKA?
Fluids - must rehydrate
Insulin - ~1-2hrs after fluids, stops ketone production
Monitor glucose levels (hourly) and electrolytes - K+ and ketones - (24hourly)
Maintain a strict fluid balance and have hourly neuro observations.
New diagnosis bloods
How may someone present in DKA?
Confused/decreased GCS
Acute abdomen pain
Kussmaul breathing
Clinically dehydrated
N+V
Hyperventilation - compensation attempt
How can the life threatening complications of DKA develop?
What 3 main areas of the tympanic membrane should you be able to visualise and describe?
Cone of light
Malleus
Maybe Incus
How many grades of microtia are there?
4
Are pre-auricular sinuses dangerous?
Harmless, if you have them bilaterally the child may have Branchio-oto-renal syndrome (niche)
Are accessory auricles dangerous?
No - body just tried to grow ‘extra ear(s)’
What is Otitis Externa?
A painful, inflammed EAM +/- Pinna involvement
(outer ear infection)
Treated with microsuction and topical antibiotics
When is Otitis Media considered chronic?
Otitis media effusion (OME) persistant >3/12
What does the white yellow arrow point to?
Keratin formation on the tympanic membrane - can form on the ear canal walls too - often looks flaky
What does the white arrow point to?
A perforation of the tympanic membrane
(subtotal)
What is choanal atresia?
Failure of the nose to canalise - a membrane may cover one or rarely both nasal canals where it joins the back of the throat.
Bilateral is a neonatal emergency.
What should you suspect until proven otherwise in a teenage boy with persistent, high pressure, unilateral nose bleeds (normally left side)?
Juvenile nasopharyngeal angiofibroma - a benign but locally aggressive vascular tumour of the nasopharynx. It is hormone sensitive, most common in adolescent males.
What is a periorbital complication of an URTI?
Periorbital cellulitis -> an emergency, painful and swollen eye. Can cause proptosis.
What is meconium ileues?
Bowel obstruction caused by meconium pellets and the ileocaecal valve.
What is refeeding syndrome?
A life-threatening shift of electrolytes and fluids following rapid nutritional intake after a prolonged period of malnutrition or starvation
What is PICA?
An eating disorder characterised by a tendency to eat substances that provide no nutritional value,
eg soil, chalk, hair, paper etc
What does this blood film show?
Sickle cells
What does this MRI head show?
A mass/lesion in the central cerebellum, just posterior to the medulla. (Medulloblastoma)
What does this MRI head show?
A mass/lesion in the brain stem. (Pontine glioma)
Very rare (<40cases per year, UK)
Inoperable due to location
Life-limiting.
What does this MRI head show?
A mass/lesion in the right lobe of the cerebellum (Pilocytic astrocytoma)
Can be surgically removed depending on size/location
Usually in the posterior fossa
Benign, slow growing
What does this axial CT abdomen segment show? What may be seen/found clinically?
A large right sided mass
Abdominal distension? Palpable mass?
Adrenal Tumour
What does this axial CT head segment show?
What may be seen/found clinically?
A mass in the right orbit, behind the eye.
Proptosis
Neuroblastoma
What does this axial CT chest segment show?
Two bilateral masses in the posterior chest
How may a retinoblastoma present?
Loss of red reflex +/- squint
What is an Omphalocoele/exomphalos?
Where the intestines develop outside the body, contained within a membranous sack.
(1/5000)
Highly associated with CVS abnormalities.
Poor prognosis.
What is Gastroschisis?
Where the intestines form outside of the body, not enclosed in a membranous sack.
(1/1000)
Better prognosis than exomphalos as there are no associated CVS malformations
Describe the foetal circulation.
Maternal blood from the placenta -> Umbilical vein -> through the liver joins the inferior vena cava via the ductus venosus -> blood enters left atrium.
Some of the blood passes through the foramen ovale in to the right atrium -> RV -> aorta & peripheral circulation
Some of the blood passes into the LV -> pulmonary artery -> ductus arteriosum -> aorta & peripheral circulation
- This way the majority of the blood bypasses the lungs.
One umbilical artery branches from each common iliac artery (2 total) -> umbilical cord -> placenta -> maternal circulation. The umbilical arteries wrap around the umbilical vein.
What is the function of the Ductus Venosus?
It shunts ~1/2 the umbilical vein blood flow directly to the IVC via the left branch of the portal vein. It protects the foetus from from placental over-circulation.
What are VSDs?
Defects in the interventricular septum.
Increased blood flow towards the lungs, may cause pulmonary hypertension.
L -> R shunt in the ventricles.
How may a VSD present?
A pansystolic murmur may be heard best in the lower left sternal edge, radiating to the upper sternal edge and axillae
Poor feeding, failure to thrive, tachypnoea
What are atrial septal defects? (ASD)
Defects in the interatrial septum.
Often asymptomatic in childhood and may close on their own during infancy -> symptoms more common in older children and adults.
An ejection systolic murmur may be heard in the pulmonary area.
Can have surgery to fix and prevent LV stretching.
L -> R shunt
What are Atrioventicular septal defects?
A large defect in the heart involving the interatrial septum and interventricular septum.
A common defect in Trisomy 21
Can lead to more rapidly to pulmonary vascular disease, so all T21 children are screened with an echo.
What is coarctation of the aorta?
Narrowing of the aortic arch, distal to the head and upper limb branches.
A life-ending emergency - surgery is the only fix
What does the blue arrow on this CXR show?
Abnormal contour of the descending aorta, the point of coarctation in this patient. The yellow arow shows the aortic knob, and the green arrow shows the post-stenotic dilatation of the descending aorta.
What is the modified Kocher’s criteria?
A tool to work out the likelihood of septic arthritis
What does this X-Ray show?
A toddlers fracture - a spiral or oblique fracture of the tibia with an intact fibia. A common injury in children learning to walk or run who fall or twist their leg. It is usually a hairline fracture that does not affect the local soft tissues. It heals well and does not affect growth or development.
What does this X-Ray show?
Destruction of the femoral head, likely due to avascular necrosis and collapse.
What is slipped upper femoral epiphysis?
A fracture through the growth plate (physis) resulting in the slippage of femoral head (epiphysis) from the femoral neck.
Often presents with Knee pain and an externally rotated gait
What is a rare cause of a limp in children?
Bone tumours.
Codman triangle may be seen on X-ray
What do these chromosomes show?
47, XY, +21
A male with downs syndrome
