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Paeds Cards Flashcards

1
Q

What investigation is not clinically useful in children <3 months with a UTI?

A

Urine Dipstick.

Urine MCS is needed.

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2
Q

What should you always do if a child <3 months presents with a fever?

A

Admit them.

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3
Q

What investigations should you carry out in a child <5 years p/w a fever?

A

FBC
Blood Cultures
Urine Cultures
CRP

Consider a Lumbar Puncture

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4
Q

Why would you always consider a LP in a febrile child <5 years, but not always in adults?

A

Children have a weaker Blood Brain Barrier, so are more susceptible to CNS infections.

E.g, meningitis, meningococcal septicaemia, encephalitis

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5
Q

What extra investigations may you do for a child presenting with:
- Diarrhoea
- Abdominal Pain
- Productive Cough

A
  • Stool sample
  • Stool sample/CRP/Lactate
  • Sputum sample
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6
Q

Why is it important to complete a full course of IV Cefuroxime prior to swapping to Trimethoprim?

A

To prevent drug resistances developing.

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7
Q

What investigations should you consider in a young child with recurrent UTIs?

A

Blood glucose levels/HbA1c
US Kidneys (1st)
MCUG (Micturating Cystogram) (Gold standard)

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8
Q

Why would it be necessary to perform a US Kidneys in a child with recurrent UTIs?

A

To check for a pyelonephritis, ureteroceles or kidney damage

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9
Q

What is a Micturating Cystogram (MCUG)?

A

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.

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10
Q

What common, congenital urinary tract abnormality may be found using a MCUG?

A

Vesicoureteral reflux

  • The retrograde flow of urine from the bladder to the ureters +/- kidneys during micturition, through a faulty vesicoureteric junction.
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11
Q

What may a MCUG show in an infant with Vesicoureteral reflux?

A

MCUG showing bilateral ureteroceles, with strictures within the ureters

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12
Q

How does Vesicoureteral reflux cause damage?

A

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.

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13
Q

How common is Vesicoureteral reflux in a healthy child?

A

The prevalence is estimated to be between 0.4%-2% in the general population

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14
Q

How common is Vesicoureteral Reflux in children with recurrent UTIs?

A

The prevalence can reach 30% in some populations.

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15
Q

How may a fever affect a child with epilepsy?

A

Increased number of fits and/or increased fit intensity.

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16
Q

Is osteomyelitis more common in adults or children? and why is this thought to be?

A

Children (especially 5 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

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17
Q

What is a common cause of osteomyelitis in adults?

A

Trauma with an open fracture.

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18
Q

What is differential diagnosis for osteomyelitis?

A

Septic Arthritis

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19
Q

What is the minimum time length of treatment for osteomyelitis?

A

Six weeks

A switch from IV to PO can be made, if PO can be maintained with good compliance

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20
Q

Why might PO Abx compliance be an issue in young children?

A

PO Abx don’t taste nice, so it can be hard to make children take it.

OPAT is an alternative option.

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21
Q

What is OPAT? (antibiotic treatment option)

A

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.

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22
Q

How may a child with meningitis present?

A

Fever
(semi-)comatose
Purple rash on skin

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23
Q

What is the name of the rash often present in meningitis?

A

A purple, non-blanching rash

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24
Q

What is the difference between petechiae and purpura?

A

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.

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25
What causes a non-blanching rash in meningitis?
DIC
26
What is the first line treatment for suspected bacterial meningitis or meningococcal sepsis?
IV Cefotaxime
27
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.
28
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)
29
When should treatment be started for suspected meningitis?
Immediately
30
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.
31
What must you do after confirming a diagnosis of meningitis?
Inform the local Health Protection Unit (PHE)
32
What other infections must be reported to PHE?
All meningitis, all invasive meningococcal and all encephalitis.
33
How many a child with pneumonia present?
Normally fit and well Febrile SoB
34
If a blood culture shows bacterial growth in a suspected pneumonia, what should the next investigation be?
CXR
35
From what week of pregnancy is a birth no longer classed as premature?
37 weeks.
36
What may a 'gush of fluid vaginally' signify at 20 weeks of pregnancy?
Prelabour rupture of membranes (PROM)
37
What is the chance of delivery following membrane rupture at 20 weeks gestation?
50% chance of delivery in the next 7 days.
38
What is a common complication of membrane rupture?
Chorioamnionitis
39
What is Chorioamnionitis?
Bacterial infection of the: Chorion, Amnion, Or amniotic fluid around the fetus (Or all of the above)
40
What are symptoms of Chorioamnionitis?
Maternal fever Maternal or fetal tachycardia Pelvic soreness Cervical drainage Foul smelling amniotic fluid.
41
How can the risk of chorioamnionitis be reduced following PROM?
Erythromycin for 10 days.
42
From what age are premature babies resuscitated?
22 weeks
43
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.
44
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.
45
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
46
Approximately what percentage of newborn infants require admission for neonatal care?
10%
47
Approximately what percentage of newborns require full intensive care?
3%
48
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
49
How can the heartbeat of a fetus be easily checked?
Auscultation
50
How can fetal bloodflow be assessed?
Doppler US
51
What is classed as a very low birth weight?
<1500g
52
What is classed as extremely low birth weight?
<1000g
53
What is classed as incredibly low birth weight?
<750g
54
What is the purpose of surfactant?
Allows breathing without alveolar collapse using water tension.
55
Where is surfactant stored until birth?
Type II Pneumocytes.
56
From what week does alveolar development occur?
Week 24, exponentially.
57
When does Alveolar development stop?
From birth, regardless of term length.
58
What is a common pulmonary condition in prematurely-born people?
Chronic lung disease of prematurity.
59
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.
60
From when is surfactant produced?
It begins around 26 weeks.
61
Where is surfactant produced?
The endoplasmic reticulum of type II pneumocytes.
62
What is a common mode of death in infants <24 weeks premature?
Respiratory Distress Syndrome. Lack of alveolar gaseous exchange facilities.
63
What can worsen lung damage in neonates?
High dose oxygen Sepsis Ventilation
64
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.
65
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.
66
When does the brainstem become myelinated?
32-34 weeks
67
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.
68
What can worsen apnoea of prematurity?
Sepsis.
69
How can Apnoea of prematurity be treated?
NCPAP Respiratory stimulants (analeptic drugs) - Under expert supervision in hospital only.
70
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.
71
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
72
What can be a cause of an overly enlarged skull in newborns?
Ventricular Haemorrhage.
73
What percentage of babies <32 weeks have small ventricular bleeds?
Around 14%
74
What percentage of babies <32 weeks have large ventricular bleeds?
Around 6% White opacities on the scans indicate blood.
75
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 can be around 40mls, so having a large bleed of even only 10mls will remove a 1/4 of the total circulating volume, leaving the baby extremely anaemic and with sufficient blood for organ perfusion in the early stages of life.
76
What percentage of babies have a normal brain US <32 weeks?
80%
77
What is a relatively uncommon finding in babies brains at <32 weeks?
Cystic Periventricular Leukomalacia ~5%
78
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.
79
What is the optimal method of newborn feeding?
Breastfeeding.
80
Why are premature babies support with IV fluids and parental nutrition instead of breastfeading?
The ability to suck and swallow starts from 32-34
81
Why are high levels of UNconjugated bilirubin dangerous in neonates?
It causes Kernicterus.
82
What can cause high levels of UNconjugated bilirubin in neonates?
Haemolysis Prematurity Sepsis Dehydration Hypothyroid Various Metabolic disease
83
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 :)
84
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.
85
Are high levels of conjugated bilirubin in neonates a worry?
No
86
What can cause high levels of conjugated bilirubin in neonates?
Prolonged parenteral nutrition, Sepsis NEC Anatomical issues
87
When does jaundice in a neonate need to be investigated?
If it lasts longer than 3 weeks.
88
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.
89
What is the most common gastrointestinal emergency in newborns?
Necrotising enterocolitis (NEC)
90
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
91
What can cause NEC?
Inflammation of the bowel in response to infection Disruption of bloodflow to the bowel
92
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.
93
What can reduce the incidence of NEC?
Breastfeeding/Breast milk
94
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.
95
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.
96
What is a potential complication of Hyperoxic insult in premature infants?
Retinopathy of prematurity
97
What can retinopathy of prematurity lead to?
Retinal haemorrhage -> retinal detatchment -> Blindness (reason Stevie Wonder is blind)
98
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.
99
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
100
Describe the epidemiology of ADHD.
5% of school aged children M:F = 4:1
101
Describe the aetiology of ADHD.
Genetic and environmental. Neuroanatomical and neurochemical factors. CNS insults e.g. FAS or premature.
102
ADHD core behaviours: give 3 signs of hyperactivity.
Fidgety. Talkative. Noisy. Can’t remain seated.
103
ADHD core behaviours: give 3 signs of impulsivity.
Blurts out answers. Interrupts. Difficulty waiting turns. When older, pregnancy and drug use.
104
ADHD core behaviours: give 3 signs of inattention.
Easily distracted. Not listening. Mind wandering. Struggling at school. Forgetful. Organisational problems.
105
Describe the treatment for ADHD.
Education. Parenting programmes and school support. Medications e.g. methylphenidate
106
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.
107
Describe the epidemiology of ASD.
1% prevalence. Boys>girls.
108
Give 4 signs of ASD.
Communication problems. Social interaction difficulties. Social imagination difficulties. Sensory issues.
109
What proportion of <16yrs have epilepsy?
1/200 0.5%
110
What percentage of all school aged children have epilepsy?
0.7-0.8%
111
What is the misdiagnosis rate of epilepsy in children?
30%
112
What percentage of kids with epilepsy have well controlled epilepsy?
70%~
113
What percentage of kids with epilepsy have continuing seizures despite treatment?
25-30%
114
What percentage of kids with epilepsy have significant seizures that affect daily life and function
~5%
115
Give an example of a CVS cause of a non-epileptic seizure in young children.
Reflex Anoxic Seizures (RAS)
116
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.
117
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.
118
How common is RAS?
~8/1000 children, 4% of seizures <5yrs.
119
How may a <3months old present with a UTI?
Fever Irritable
120
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)
121
What congenital renal abnormalities may you find on an US/MCUG?
Horseshoe kidney Duplex kidney
122
What is a horse shoe kidney?
Where 'both' kidneys are connected in the shape of a horseshoe
123
What is a duplex renal defect?
An extra ureter coming from a kidney.
124
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.
125
What is the most common cause of nephrotic syndrome in children?
Minimal change disease (/nephropathy)
126
What is the most common cause of nephrotic syndrome in adults?
Membranous glomerulo-nephropathy.
127
What is IgA GN associated with?
Henoch-schonlein purpura (HSP) (IgA vasculitis)
128
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.
129
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).
130
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
131
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.
132
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)
133
What do you initially do in children <2 yrs which you are concerned about growth?
Calculate the BMI and centile
134
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
135
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
136
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?)
137
What can result in faltering growth?
Energy balance mismatch
138
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
139
Give 3 examples of not enough food in in children.
Ineffective feeding Feeding aversion Physical disorders affecting feeding
140
Give examples of ineffective feeding in children.
Ineffective suckling Ineffective bottle feeding Poor feeding patterns/routines being used
141
Give 2 examples of causes for feeding aversion in children.
Gastroesophageal reflux (Common) Dental carries History of abuse by feeder
142
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.
143
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.
144
Is reflux in an infant worrying?
No - most will grow out of it as their GI tract develops.
145
How can dental carries cause feeding aversion?
The same as reflux, except the pain is caused by food in the mouth touching sensitive dental carries.
146
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.
147
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.
148
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
149
What is the most common cause of iron deficiency anaemia in children.
Drinking lots of cows milk.
150
Is all coeliac disease damaging to infants?
No - 'Coeliac Icerberg'
151
What is cow milk protein allergy?
An allergic response to a protein in cows milk causing: Rash on face Irritated Pruritus Vomiting Lip/tongue swelling Iron deficiency anaemia
152
What alternative can be used in cows milk protein allergy?
Pasteurised milk instead of formula (amino acids formula if symptoms persist) Nutragen
153
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)
154
Give an example of an inflammatory cause of faltering growth.
Crohn's disease
155
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
156
Give 3 causes of abnormal growth control.
RARE CAUSES Growth hormone pathologies Thyroid dysfunction Psychosocial influence
157
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
158
What is the most important hormone for growth of neonates (<28days)?
Thyroid hormone
159
What can low thyroid hormones in neonates cause?
Cretinism - 'to be a cretin' Congenital iodine deficiency syndrome - CIDS
160
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.
161
How may an infant with cretinism present?
Lethargy Feeding difficulties Constipation and jaundice Impaired physical and mental development Periorbital oedema
162
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
163
What is a sign of hypochondroplasia/achondroplasia?
Short limbs
164
What may long legs and a short back be a sign of in a child?
Delayed puberty.
165
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.
166
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.
167
What are growth charts?
A graph where you can plot length, weight, age and familial stature facts.
168
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
169
What may a familial short stature indicate?
The child is likely to grow into a small build (be short)
170
How may a constitutional delay in puberty/growth affect height?
Likely to have a late growth spurt.
171
What is height velocity?
The rate at which heigh increases. Heigh velocity = change in height/years between measurements
172
Describe the Hypothalamic - Pituitary Axis (HPA).
173
When is puberty considered to have started in males?
When a testicular volume of 4mls is reached.
174
When is puberty considered to have started in females?
Thelarche - Beginning of breast development (breast bud noted/palpable, enlargement of areola)
175
How can hypogonadism be categorised?
Primary - problem arising in the gonads Secondary - problem arising in the pituitary Tertiary - problem arising in the hypothalamus
176
Give two examples of primary hypogonadism.
Klinefelter's syndrome Turner's syndrome
177
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
178
What is a possible complication of gynaecomastia in Klinefelter's syndrome?
A 20-fold increased risk of breast cancer.
179
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
180
How else may primary hypogonadism be described?
Hypergonadotrophin hypogonadism High GnRH low sex hormones
181
Give some examples of secondary/tertiary hypogonadism.
Intracranial tumours (eg pituitary) Chemo/radio therapy Prader Willi syndrome Trauma Malnutrition Marijuana
182
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
183
Is 'true' precocious puberty a problem?
No
184
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.
185
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
186
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.
187
Give some common ectopic sources sites of sex hormones.
Pineal gland Mediastinum Liver Retroperitoneum Adrenals
188
What may a positive pregnancy test in males be a sign of?
hCG secreting tumours!!
189
What is bone age a marker of?
Skeletal maturity
190
What can delayed bone age be a sign of?
GH deficiency
191
What can advanced bone age be a sign of?
Precocious puberty
192
What is the biggest exertion for babies?
Coordinating breathing with feeding. - their equivalent of a jog "Are they panting/sweaty/SoB when feeding?"
193
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
194
What are two common neurological problems in children?
Migraines/headaches Epilepsy
195
What are cerebral palsies?
A Group of developmental disorders of movement and posture.
196
Give four ways movement and tone can be affected in cerebral palsies.
Spastic Ataxic Hypotonic Dystonic
197
Give 3 groups that cerebral palsies can be categorised into which describe the distribution of the palsy.
Monoplegic Hemiplegic Quadraplegic
198
What can vary between people with a cerebral palsy?
The severity.
199
What is a common co-morbidity in cerebral palsies?
Epilepsy.
200
Can cerebral palsies progress?
Yes - The palsy can 'progress' with age as new functions cannot be obtained unlike in people without cerebral palsies.
201
What is a rare but life threatening complication of a dystonic cerebral palsy?
Status dystonicus (niche)
202
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)
203
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
204
What can intrathecal baclofen be used to manage in adults?
MS
205
How many swallowing issues in a cerebral palsy be managed?
PICC line to PN/TPN
206
How many over production of secretions in cerebral palsies be managed?
Injection of Botulinum toxins (BoTox) into the salivary glands.
207
What are the 3 areas in the aetiology of cerebral palsy?
Pre-natal Peri-natal Post-natal
208
What period of life are cerebral palsies most likely to occur?
Between 24 weeks gestation and birth (peri-natal)
209
Give 3 Pre-natal causes of cerebral palsy.
Preterm birth Infections Genetic components
210
Give 3 Peri-natal causes of cerebral palsy.
Amnionitis Meningitis Encephalitis
211
Give 3 post-natal causes of cerebral palsy.
Stroke Traumatic Brain Injury Hypoxic Ischaemic Encephalopathy
212
What are the 4 main areas of focus in cerebral palsy management?
Musculoskeletal Management Medical Management Surgical Management Feeding Management
213
Give 3 methods of MSK management in cerebral palsy.
Positioning/posturing training Splinting joints/limbs Casting joints/limbs
214
Give 3 methods of medical management in cerebral palsy.
Anticholinergics - spasm control Diazepams - spasm control Botulinum toxins - excessive secretion production Baclofen - severe spasticity management
215
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
216
Give 2 methods of feeding management in cerebral palsy.
Nutritional assessment with dieticians PEG feeding
217
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
218
Give four types of seizures.
Focal Asbcent Myoclonic Tonic clonic
219
What is rolandic epilepsy?
The most common focal onset of epilepsy Facial or perioral onset with secondary generalisation EEG shows centroltemporal region spikes
220
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.
221
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
222
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
223
How can a headache be classified?
Acute or chronic.
224
Give causes of an acute headache.
Common: - Illness with fever - Meningitis - Trauma Rare: - SAH bleed - Intracranial AVMs - Space occupying lesions, tumours
225
Give causes of chronic headaches.
Common: - Tension - Migraine - Poor lifestyle (lack of sleep, increased screen time, stress etc)
226
What are Red Flags for headaches?
New, sudden onset Thunderclap/worst ever Young child <7yrs Neurological symptoms Hx of developmental delay
227
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
228
Give 2 examples of Dystrophinopathies.
Duchenes Muscular Dystrophy (DMD) Beckers
229
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.
230
What sign may be seen in dystrophinopathies?
Gower's sign - climbing up themselves.
231
What treatments are available for DMD?
Corticosteroids Supportive treatment Atalauren (restores ability to synthesise dystrophin) Gene therapy in the future.
232
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.
233
What is chorea?
A movement disorder/dyskinesia characterized by rapid, jerky involuntary movements.
234
What is Sydenham's chorea?
An autoimmune chorea caused by group A streptococcus infection (rheumatic fever) Sometimes called rheumatic chorea.
235
What is a classic feature of Sydenham's chorea?
Milkmaid grip.
236
What can cause chorea?
Vascular disease of the basal ganglia.
237
What is diabetes?
A chronic, metabolic disease characterised by elevated blood glucose.
238
Describe the normal function of the pancreas and liver in the homeostasis of glucose.
239
Give 5 types of diabetes.
Type 1 Type 2 Gestational diabetes MODY Neonatal LADA (latent autoimmune diabetes in adults (type 1 1/2)
240
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.
241
What is the estimated prevalence of Type 1 diabetes?
204.5/100 000 (Eng+wales)
242
What ages are the two peaks of incidence of Type 1 Diabetes?
4-5yr olds 10-11yr olds
243
What are the common presenting symptoms of Type 1 diabetes?
Polyuria Polydipsia Weight loss Tiredness (4Ts - toilet, thirsty, tired, thinner)
244
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.
245
What are some risk factors for type 1 (And LADA) diabetes?
FHx Genetics Geography and environment Age (young)
246
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.
247
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).
248
What are common co-morbidities often found at diagnosis of T2DM?
HTN (44%) Kidney disease (25%).
249
What is a possible finding in obese children that is associated with diabetes?
Acanthosis Nigrans - a sign of insulin resistance development.
250
Give 4 risk factors for childhood type 2 diabetes.
Obesity Non-white ethnicity Deprivation More common in girls
251
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)
252
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.
253
What is the HbA1c range for pre-diabetes?
42-48mmol/mol
254
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.
255
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)
256
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
257
How may someone present in DKA?
Confused/decreased GCS Acute abdomen pain Kussmaul breathing Clinically dehydrated N+V Hyperventilation - compensation attempt
258
What are the life threatening complications of DKA?
Cerebral oedema Shock Hypokalemia Aspiration (N+V with hyperventilation and Ks breathing increases risk) Thrombus
259
How can the life threatening complications of DKA develop?
260
What is classed as SEVERE DKA?
pH < 7.1 OR Plasma bicarbonate <5mmol/l
261
What is the management for T2DM?
Lifestyle changes to improve prognosis - activity, sleep Diet changes - calorie/carb reduction, weight loss Metformin +/- insulin therapy Consideration of GLP-1 agonists: - Liraglutide (>10yrs) - Semaglutide (>18yrs)
262
What 2 types of symptoms may someone in hypoglycaemia present with? Give examples
Autonomic: - Irritable - Hungry - Shaky/sweaty - Palpitations Neuroglycopenic: - Confused/drowsy - Hearing/visual problems - Headache - Slurred speech/unusual behaviour - Coma/seizures
263
What is the management for someone in hypoglycaemia?
Check blood glucose to confirm: - If able to swallow, then glucose tablets/food with high rapid absorbable sugars eg lucozade - If unable to swallow, glucose gel on gums Check blood glucose again in 15mins Follow with long acting carbs
264
What percentage of GP consultations are ENT related in winter months?
50%
265
Which embryological layer does the pinna (external ear) develop from?
The mesoderm - 6 hillocks of His
266
What is the function of the pinna?
For determining the direction of sound, and concentrating mid-range sound into the ear canal (Voice is a midrange sound)
267
What is an anaplastologist?
Someone who makes maxillo-facial protheses.
268
Why is the eardrum hard to appreciate on an otoscope?
The eardrum is 3D, not flat like it is shown on an otoscope The eardrum sits at an angle.
269
What 3 main areas of the tympanic membrane should you be able to visualise and describe?
Cone of light Malleus Maybe Incus
270
Give 5 visible congenital abnormalities of the ear.
Anosia - no ear Microtia - an ear, but varying degrees of malformation Pre-auricular sinus Accessory auricles Prominent ears
271
How many grades of microtia are there?
4
272
Are pre-auricular sinuses dangerous?
Harmless, if you have them bilaterally the child may have Branchio-oto-renal syndrome (niche)
273
Are accessory auricles dangerous?
No - body just tried to grow 'extra ear(s)'
274
Are prominent ears dangerous?
No - although they can cause psychological damage to children about their appearance.
275
What could outer or middle ear issues cause?
Conductive hearing loss - Problems getting sound through the ear into the cochlear
276
What could inner ear issues cause?
Sensorial hearing loss - Problems processing sound
277
Name a middle ear abnormalities that could cause varying degrees of conductive hearing loss.
Abnormal ossicles. - Disruption of sound amplification mechanisms Can be present in craniofacial syndromes
278
What can a malformed inner ear cause?
Profound sensorial hearing loss. (dont need examples) egs Scheibe (cochleosaccular) dysplasia Mondini (cochlear) dysplasia Bing-Siebenmann (vestibulocochlear) dysplasia Michel aplasia (complete labyrinthine aplasia) Very niche
279
What is Otitis Externa?
A painful, inflammed EAM +/- Pinna involvement (outer ear infection) Treated with microsuction and topical antibiotics
280
What is Otitis Media?
An infection of the fluid in the middle ear (secreted normally from respiratory epithelium goblet cells). It will affect ~90% of children at some point. It is often painless, but can be suddenly painful if perforation of tympanic membrane. Normally self-limiting.
281
What is the usual cause of Otitis Media?
Eustachian tube dysfunction.
282
What is the function of the Eustachian tube?
Regulate air pressure behind the ear drum.
283
Name an antibiotic that is Ototoxic (to inner ear).
Gentamycin
284
What is gentazone?
Gentamycin + steroid
285
When is Otitis Media considered chronic?
Otitis media effusion (OME) persistant >3/12
286
What is a potential complication of chronic otitis media?
Mastoiditis
287
What is chronic otitis media effusion also known as?
Glue ear
288
What are 4 causes of a chronically discharging ear?
Perforation (dry vs active) Retraction pockets Chronic supparative otitis media Cholesteatoma
289
What is a cholesteatoma?
An abnormal skin cell growth usually found in the middle ear (can be in the mastoid)
290
What are the symptoms of a cholesteatoma?
Repeat infections Offensive discharge Perforation White material on the tympanic membrane (keratin).
291
What is the treatment for a cholesteatoma?
Surgical fix - removal
292
What are the risks of an untreated cholesteatoma?
It can become infected and erode into nearby structures. - Deafness (cochlear/inner ear erosion - permanent) - Facial nerve palsy (erodes into nearby facial nerve - permanent) - Intracranial abscesses (erosion upwards into cranium through ethmoid plate or from mastoid - treatable but usually cause permanent damage)
293
What does cholesteatoma literally mean?
Greasy tumour
294
What % of cholesteatomas are congenital/acquired
90% acquired - usually in the ear canal 10% congenital - can benignly sit behind the eardrum until it becomes infected and begins eroding.
295
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
296
What does the white arrow point to?
A perforation of the tympanic membrane (subtotal)
297
How may the ear look in mastoiditis?
Bulging outwards and downwards facing Very painful Abscess on the mastoid visible.
298
How many attempts should you have at removing an ear/nose foreign body?
One attempt - if child is cooperative, cooperative parent, good lighting and equipment.
299
What foreign body in the ears, nose or throat is an ENT surgical emergency?
Button batteries. Will erode through nearby structures rapidly. Intracranially if in the ears or nose. Into the mediastinum, heart, lungs or aorta if in the throat.
300
Are babies obligate nasal or oral breathers?
Nasal
301
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.
302
How may choanal atresia present in a neonate
Cyclical cyanosis immediately after birth. Born -> cant breathe as blocked -> turns blue and starts crying -> breathes through mouth whilst crying -> turns pink and stops crying -> goes blue again -> repeats.
303
What is epistaxis?
Nosebleed
304
What % of <15yr olds will have had a nosebleed?
80%
305
Why are recurrent nosebleeds common in children?
The nose is richly supplied with blood, especially at the front (Little's area/Kiesselbach's plexus) where most nose bleeds occur from. Usually because children overly pick their nose, which can cause bleeding, inflammation and more bleeding.
306
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.
307
What is a periorbital complication of an URTI?
Periorbital cellulitis -> an emergency, painful and swollen eye. Can cause proptosis.
308
What is proptosis?
A swollen, bulging eye.
309
What may a child with proptosis experience?
Red colour vision. Caused by optic nerve compromise due to increasing pressure compressing the optic nerve artery And obvs pain
310
What does stridor indicate?
That 75% of the airway is likely blocked/compromised
311
How can stridor be classified?
Expiratory - bronchi problem Inspiratory - laryngeal problem Biphasic - Sub-glottis/tracheal problem
312
What is laryngomalacia?
A birth defect characterised by softening and inward collapse of the larynx of inspiration. Normally harmless - usually have a normal sounding voice but may have stridor worse on feeding or exertion and general noisy breathing.
313
What is acute epiglottitis?
A medical emergency - Infection/inflammation of the epiglottis
314
What is the most common causative agent of acute epiglottitis?
Haemophilus influenzae B (HiB)
315
Why is acute epiglottitis rare nowadays?
Due to the extremely affective HiB vaccine.
316
What is the management of acute epiglottitis?
DO NOT AGITATE OR STRESS THE CHILD - It can lead to adrenaline and bronchocollapse - death Calmly take to theatre/calmy tracheostomy.
317
How may acute epiglottitis present?
Very suddenly unwell, drooling, stridor More common in age 2-5yrs May be 'banana-ing' - abnormal arching back to try and breathe. They look like they are dying - they are...
318
What is Croup?
Laryngotracheobronchitis Common, usually low grade fever and not very unwell May have stridor due to larynx narrowing
319
What usually causes Croup?
Parainfluenza virus types 1 and 2
320
What is sleep apnoea?
Cessation of breathing + desaturations
321
What can cause sleep apnoea in children?
Large tonsils or adenoids
322
How may children with sleep apnoea present?
Snoring/stertor Restless Sweaty Poor eaters - fine drinking Failure to thrive Behavioural problems - hyperactivity, tiredness
323
What is the definitive treatment for tonsil/adenoid caused sleep apnoea in children?
Adenotonsillectomy
324
What is the safest way to remove an airway foreign body?
Rigid ventilating bronchoscope.
325
What is the difference between vomiting and regurgitation?
Vomiting is classically accompanied by retching, requiring effort and often quite forceful. Regurgitation has no retching, is not forceful and requires no effort. Often seen as small amounts that dribble out from the mouth.
326
What is cyclical vomiting syndrome?
2-3 days of N+V every fews weeks/months with no obvious cause. Generally just unwell, may help sitting in the dark
327
What is classed as infrequent stool passing?
<2x per week
328
What is meconium?
The earliest stool passed in an infant. Composed of nutrients absorbed in utero. Often green/black and tar like.
329
When should a neonate pass meconium?
Within 48hrs of birth.
330
What can help a neonate to naturally pass meconium?
Breastfeeding in the first days of life - colostrum has a natural laxative effect
331
What is colostrum?
The first form of breastmilk that is released from the mammary glands after giving birth. It is nutrient dense and high in antibodies. Yellow/gold in colour.
332
What may be given if a child is failing to pass meconium?
Fybogel
333
What is fybogel?
A stool bulking laxative that encourages peristalsis?
334
What may failure to pass meconium in <48hrs be an early sign of?
Meconium ileus
335
What is meconium ileues?
Bowel obstruction caused by meconium pellets and the ileocaecal valve.
336
How can meconium ileus be diagnosed?
Failure to pass meconium, contrast enema to image. The contrast can also help to move the meconium and release the obstruction.
337
Give 4 common causes of bowel obstruction in children.
Intussusception Meconium ileus Volvulus Hirschprung's disease Malrotation
338
Give some causes of acute diarrhoea.
Mostly viral - Norovirus, rotavirus Bacterial - C. difficile Parasitic - Giardia All can cause acute gastroenteritis.
339
When should acute diarrhoea be investigated?
If septicaemia is suspected, or there is blood in the stool.
340
Which Ig do babies not produce much of?
IgG - maternal transfer in breastmilk They usually make IgM, with little IgA
341
What is the prevalence of anxiety disorders in teenagers?
16%
342
What are 3 long-term risks of Anorexia Nervosa/starvation?
- Osteoporosis & increased fracture risk - Stunted growth and pubertal delay - Neurocognitive delay in development
343
What is refeeding syndrome?
A life-threatening shift of electrolytes and fluids following rapid nutritional intake after a prolonged period of malnutrition or starvation
344
What are some signs for admission in patients with Anorexia Nervosa/starvation?
Resting bradycardia <50bpm Postural tachycardia (PoTS) Postural syst BP drop >20 Hypothermia <35.5 Severe abdo pain Escalating parental concerns
345
What is postural tachycardia syndrome (PoTS)?
Where the heart rate rapidly increases after getting up from sitting or lying. Causes dizziness, syncope, chest pain and fatigue.
346
What are some short term complications of Anorexia Nervosa/starvation?
Cardiac: - loss of heart muscle and impaired cardiac reserve (bradycardia, PoTS, Hypothermia: - core temp <35.5 (Heat conservation reduced due to impaired cutaneous vasoconstriction/impaired increase in metab rate in the cold) Gut: - abdo discomfort (constipation, bloating, reduced gastric emptying/motility, impaired enzyme secretion) - abdo pain (pancreatitis, superior mesenteric artery syndrome)
347
What is superior mesenteric artery syndrome?
Compression of the duodenum between the aorta and overlying superior mesenteric artery, causing ischaemia. (rare) Excruciating, stabbing abdominal worse after eating.
348
What is anaemia?
A condition in which there is a deficiency of red cells or of haemoglobin in the blood to meet the bodys requirements. NOT a diagnosis - anaemia caused by ...
349
What is a normal birth Hb range?
149-237 (g/L)
350
Describe the pathogenesis of anaemia.
Blood loss: - acute haemorrhage - chronic bleeding -> iron deficiency Decreased production: - nutrient deficiencies (iron, B12, B9) - bone marrow failure (DBA, TEC) - infiltrative disease (acute leukaemia, neuroblastoma, lymphoma) Increased consumption: - Acquired (immune, drugs, parasitic, MAHA) - Inherited (membranopathies, enzymopathies)
351
Why is MCV clinically useful?
You can classify anaemia as: Macrocytic, Normocytic, Microcytic, Helps to diagnose the cause of the anaemia.
352
What does MCV mean on a FBC?
Mean corpuscular volume.
353
Give 3 causes of microcytic anaemia.
Iron deficiency (uptake vs chronic bleeding) Thalassaemia Lead toxicity
354
Give 3 causes of normocytic anaemia.
Acute blood loss Haemolysis (enzy/memb) Bone marrow infiltration
355
Give 3 causes of macrocytic anaemia.
Megaloblastic anaemia (b12/B9 deficiency) Hypothyroidism Aplastic anaemia (stop producing enough new rbcs) Normal newborn (body grows quicker than rbc nos. can keep up)
356
What is the most common cause of anaemia in the young?
Iron deficiency anaemia.
357
Give 3 things that can cause iron deficiency anaemia in the young.
Prematurity - most of the maternal iron transport occurs at the end of term Drinking cows milk over breast milk (not absorbed as well as breast milk, so less nutritional uptake) PICA
358
What is PICA?
An eating disorder characterised by a tendency to eat substances that provide no nutritional value, eg soil, chalk, hair, paper etc
359
How is iron deficiency anaemia treated?
Oral iron supplements (6mg/kg/day) Reticulocytosis occurs in 72hrs, the bodies iron stores are completely replenished in 3 months
360
What are reticulocytes?
Immature red blood cells
361
What further test can help to diagnose a cause of anaemia?
Blood film
362
What condition has bite cells found on blood film?
G6PD deficiency
363
What is G6PD deficiency?
An x-linked condition, thus primarily affecting males. A deficiency of an enzyme necessary for healthy and proper function of rbc regulation. The deficiency causes premature breakdown of red blood cells.
364
How may someone with G6PD deficiency present?
Anaemic Jaundiced Dark urine Fatigue
365
What is a common side effect of taking iron supplements?
Constipation
366
Describe the causes of haemolytic anaemias.
Intracorpuscular: - Haemoglobinopathies, enzymopathies, membranopathies Extracorpuscular: - Autoimmune - Fragmentation - Hypersplenism - Plasma factors
367
Give examples of haemolytic anaemia presentations.
Hydrops fetalis Neonatal hyperbilirubinaemia Neonatal ascites Splenomegaly Aplastic crisis Leg ulcers
368
Give 2 causes of severe anaemia at birth.
Haemolytic disease of the newborn. Bleeding (umbilical cord/internal haemorrhage)
369
What is haemolytic disease of the newborn?
Rh -ve mother, previously sensitised to Rh +ve Transplacental passage of anti-Rh +ve antibodies Haemolysis of Rh +ve fetal cells -> Jaundice & anaemia
370
What can trigger sporadic haemolysis in G6PD deficiency?
Drugs Fever Acidosis ... Fava beans
371
What is the commonest hereditary haemolytic anaemia in Europeans?
Hereditary Spherocytosis. (membranopathy) Typically autosomal dominant, but no FHx in 25%
372
What does this blood film show?
Sickle cells
373
What is sickle cell disease?
The most common serious genetic disorder in England affecting >1/2000 live births. Autosomal recessive A substitution of valine for glutamic acid on the beta haemoglobin chain, causing sickle haemoglobin (HbS) (Haemoglobinopathy)
374
Describe the pathophysiology of sickle cell disease.
HbS polymerises when deoxygenated, leading it to change shape to a sickle shape. Occlusion of the microvascular circulation occurs as the sickle cells are unable to flex to pass through the vessels. This causes vascular damage, infarcts and pain. It leads to a shortened survival of RBCs leading to haemolysis.
375
How may sickle cell present?
Dactylitis Acute chest syndrome Splenic sequestration (spleen bulging as full of blood, causes abdo distension and splenomegaly, spleen can rupture and lead to massive haemorrhage.
376
How can HbSS be diagnosed?
Blood film Sickle solubility test HPLC (baso mass spec - each Hb chain variant has a different Mr)
377
At what age does sickle cell disease first present and why?
2-4 months Fetal haemoglobin is produced until this time, which is used in the formation of RBCs instead of HbB. Once the a2y2 RBCs begin to die, they are replaced with a2b2 RBCs, leading to sickle cell diseae/trait
378
What is the difference between sickle cell disease and sickle cell trait?
Sickle cell disease is homozygous for the HbS gene, leading to a shorten life expectancy and symptomatic disease. Sickle cell trait is heterozygous (HbB & HbS), so they can live a normal, asymptomatic life. They are a carrier for the HbS gene.
379
What are some potential complications of HbSS?
Chronic ankle ulceration Priapism Avascular necrosis Gallstones Enuresis (bedwetting) Stroke
380
What is thalassemia?
Haemoglobinopathies. Can be alpha/beta and major or minor eg, alpha-thalassemia major = both alpha Hb genes are mutated -> two abnormal HbA per cell - largely incompatible with life, present from utero beta-thalassemia = one beta Hb gene is mutated -> one abnormal HbB per cell - can live almost asymptomatic, a carrier for the HbB thal. gene.
381
What factors affect haemostasis?
Platelets - number of - function of Coagulation factors Vascular integrity
382
What is thrombocytopenia?
Low platelets
383
What can cause thrombocytopenia?
Increased platelet destruction (immune) - ITP - Secondary to infection (HIV, hep., CMV) - Drugs (valproate, cipro, ibuprofen) Increased platelet destruction (non-immune) - Microangiopathic (TTP, HUS) - Drugs Decreased platelet production - Ineffective thrombopoeisis (B12/9/sev iron def) - Infiltration (leukaemia) - Bone marrow failure (aplastic anaemia) Disorder of platelet pooling - Hypersplenism Pseudothrombocytopenia - Platelet activation during venepuncture (false low)
384
What is ITP?
Immune thrombocytopenic purpura The most common immunological thrombocytopenia. Diagnosis of exclusion - well child, acute onset and no concerning features in history and normal exam (bruising/petechia expected)
385
What are coagulopathies?
Various errors/disorders in the clotting cascade
386
Name two bleeding disorders.
Haemophilia (A/B) Von Willebrand factor disease (vWF)
387
What is the most common inherited bleeding disorder?
Von Willebrand factor disease
388
What are the 3 types of vWF disease?
Type 1: Make some, but not enough Type 2: Make loads, but doesn't work Type 3: Make none at all
389
What are the normal functions of VWF?
Mediates the adherence of platelets at sites of endothelial damage, helping to form the platelet plug Binds and transports FVIII, protecting it from degradation.
390
How does VWF disease present?
Easy bruising Epistaxis Menorrhagia Mucosal bleeding Following surgery or trauma
391
How may VWF disease show on a clotting screen?
Often prolonged APTT (not always... due to type etc)
392
How can VWF disease by managed?
TXA (tranexamic acid - acute, an antifibrinolytic) (IV) Desmopressin (elevates FVIII and VWF levels by causing release from endothelial stores) Given IV, IM or nasally
393
What are two cons of using desmopressin to treat VWF disease?
It affects serum sodium It stimulates the release of reserve FVIII and VWF, the more it is used the less is stored in reserve, so it loses its effectivity with repeated use
394
What is haemophillia?
A deficiency of Factor VIII/IX X-linked recessive, only affects boys Characterised by prolonged bleeding, muscle bleeds and joint bleeds (can lead to arthritis and deformity) Prolonged APTT
395
How can bleeding be managed in Haemophilia?
TXA Factor concentrate Emicizumab (recombinant humanised bispecific mab, mimicking the co-factor of activated FVIII) - baso replaces the missing FVIII so clotting cascade no longer interrupted.
396
Errors in which part of the clotting cascade cause a prolonged APTT?
The intrinsic pathway
397
Errors in which part of the clotting cascade cause a prolonged PT?
The extrinsic pathway
398
Why do VWF disease and Haemophilia cause a prolonged APTT?
They are genetic conditions affecting the intrinsic pathway.
399
What Factor is affected in haemophilia A?
Factor VIII
400
What factor is affected in haemophilia B?
Factor IX
401
What proportion of children develop cancer each year?
1/8000
402
What type of cancers are very rare in children?
Carcinomas
403
What age group is leukaemia more common in?
Young children
404
Name 3 embryonal tumours that are very rare in adults.
Wilms Neuroblastoma Rhabdomyosarcoma
405
Name two types of genes, which if they have the correct mutation, can increase the susceptibility of developing cancer.
Oncogenes - should be 'off', if activated, can cause cells designated for apoptosis to survive and proliferate instead. Tumour suppressor genes - should be 'on', they regulate cell division and replication, if damaged can have impaired function and allow excessive cell reproduction.
406
What is the peak age incidence of bone tumours and lymphomas?
Early adolescence to early adulthood. They can usually remain dormant for years until they are triggered to rapidly grow.
407
What can trigger bone tumours and lymphomas to rapidly grow?
Puberty, Infection, Growth spurts
408
How may acute leukaemia present?
Fever, Fatigue, Frequent infection, Lymphadenopathy, Organomegaly (liver/spleen) Anaemia, Bruising/petechia Bone or joint pain.
409
What investigations can be used in suspected ALL?
Blood film Serum chemistry CXR Bone marrow aspirate LP
410
What are 3 problems which can be associated with a localised mass?
Airway obstruction from lymphadenopathy Pulmonary oedema Ascites
411
How may CNS tumours present?
Headaches - often worse lying down Vomiting - early morning Papilloedema Squint Nystagmus/Ataxia/DANISH etc Personality/behavioural change
412
What does this MRI head show?
A mass/lesion in the central cerebellum, just posterior to the medulla. (Medulloblastoma)
413
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.
414
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
415
How can CNS tumours be managed?
Surgery - Resection if possible - VP shunt to control intracranial pressure Chemotherapy - single agent/combination Radiotherapy - malignant tumours in older children
416
How common is lymphadenopathy in childhood?
Common, (up to 50%) Mostly self-limiting and benign.
417
What does this axial CT abdomen segment show? What may be seen/found clinically?
A large right sided mass Abdominal distension? Palpable mass?
418
What does this axial CT head segment show? What may be seen/found clinically?
A mass in the right orbit, behind the eye. Proptosis
419
What does this axial CT chest segment show?
Two bilateral masses in the posterior chest
420
What is Wilms tumour?
A rare embryonal kidney tumour (nephroblastoma) affecting mainly children. Can present with abdo pain, swelling, palpable mass, haematuria, fever, N/V, constipation
421
How are Wilms tumours managed?
Chemotherapy - prior to surgery and after surgery Surgery - nephrectomy - If bilateral, then partial nephrectomy of both kidneys. Radiotherapy - If there is residual abdominal/pulmonary disease.
422
How may a retinoblastoma present?
Loss of red reflex +/- squint
423
What are potential late effects of cancer treatment in children?
Endocrine - growth and development Intellectual impairment Cardiac toxicity Renal toxicity Fertility problems Psychological
424
Describe a wheeze/asthma cough.
Dry cough
425
Describe a Cystic fibrosis cough.
Wet, productive cough.
426
What are some causes of recurrent wheeze in children?
Persistent infantile wheeze: - small airways/smoking household/viruses Viral episodic wheeze: - no interval symptoms/URTI triggered Asthma (multiple trigger wheeze) - persistent symptoms/atopic/FHx
427
What are some other causes of wheeze in children?
CF CLDN (chronic lung disease of prematurity) Tracheo-bronchomalacia Ciliary dyskinesia GO reflux Chronic aspiration Immune deficiency Persistent bacterial bronchitis (PBB)
428
What is tracheo-bronchomalacia?
'floppy airways' The cartilage in the airways responsible for holding the airway open is flaccid, tracheal collapse can occur when breathing in It normally presents with stridor (trachea) but can present with wheeze if severe (broncho affected)
429
What is ciliary dyskinesia?
Improper 'wafting' of cilia, often related to GH issues
430
What can cause chronic aspiration?
Reflux? Unsafe swallow?
431
What is Persistent bacterial bronchitis (PBB)
A 'stubborn' infection Common cause of continuous wet cough in children
432
What is the acute asthma management?
AB(CDE) A - Airway patent? O2 sats? - 15L O2 B - Breathing? resp rate high? - beta agonist (salbutamol nebulisers) + Prednisolone 1mg/kg IV salbutamol bolus?
433
Name 3 ICS used in the prevention of asthma.
Beclomethasone Budesonide Fluticasone
434
Name 2 types of medications used as 'relievers' in asthma control.
Short acting Beta 2 agonists - salbutamol - terbutaline Ipratropium bromide - white inhaler
435
Name two long acting Beta 2 agonists.
Salmeterol Formoterol
436
Name one leukotriene receptor antagonist.
Montelukast
437
Give 5 factors which may contribute to failure to respond to treatment in asthma.
Adherence/compliance (1) Bad disease (5) Choice of drugs/devices (4) Diagnosis (2) Environment (3) (ABCDE) (no. = importance)
438
What are some potential effects of long-term ICS use in children?
Might cause a brief slowing of growth (will catchup) Adrenal suppression (rare, usually on high dose) Unsure of affect on bone development
439
What colour is bile?
Yellow/gold when in the gallbladder Turns green when interacts with stomach acid
440
How can diabetes in pregnancy affect the bowels of a neonate?
They can develop a smaller colon, leading to troubles opening the bowels.
441
What is pyloric stenosis?
Gradual hypertrophy of the pyloric sphincter muscle within 3 months of birth (usually). -> Progressive projectile vomiting.
442
What examination finding may be present in pyloric stenosis?
A small, moveable, palpable mass in the abdomen, feels like an olive.
443
Why may you have a metabolic alkalosis in pyloric stenosis?
2 reasons: - Acid lost due to persistent vomiting -> alkalotic - A high bicarb - it is secreted in the 1st and 2nd part of the duodenum to neutralise stomach acid as it passes through the pylorus. As nothing/very little can pass through the pylorus, less of the bicarb reacts so it stays in the intestines where it is absorbed into the blood further along in the intestines.
444
What is intussusception?
Telescoping of the bowel into itself. Typically it is the terminal ileum into the caecum and colon. May find a palpable mass in the right flank - where the intussusception occurs, and an empty RIF where the bowel and caecum should be.
445
How may a child with intussusception present?
Crying child Red currant/black jelly like stools
446
How can an intussusception be managed?
Contrast enema. Contrast passes through the colon and pushes the intestines back into place (Un-telescoping?). It can also then be used to take imagine of the bowel.
447
Why may the bowel look cyanotic in intussusception?
Due to the increased pressure in the bowel, it can place pressure on the arteries and veins supplying that area of bowel -> decreased bloodflow -> cyanosis
448
When should the testes descend through the inguinal canal?
~week 30 gestation
449
Are inguinal hernias more common in boys or girls?
Boys As the testes descend through the inguinal canal the internal ring should close, however this may not happen and bowel can extend into the internal ring.
450
What is a possible complication of an inguinal hernia?
Incarceration
451
What are the peak incidences of testicular torsion?
<6 months and teenagers Any significant testicular pain needs to be investigated.
452
What is the timeframe to treat testicular torsion?
<6hrs. The testicle may be unsavable after this time.
453
Why do children with appendicitis often perforate before being diagnosed?
Appendicitis in <5yr olds is hard to diagnose as it often does not present typically and can be easily missed, leading to perforation.
454
What is oesophageal atresia?
Improper formation of the oesophagus. It often abnormally fuses with the trachea and creates tracheosophageal fistulas .
455
What is duodenal atresia?
Improper formation of the duodenum causing a blockage. It is often due to an abnormal membrane covering the duodenal lumen. Double bubble sign on XRAY
456
What is intestinal atresia?
Abnormal formation of the intestines due to vascular compromise. Vascular compromise in utero can lead to segments of bowel which fail to develop, leading to extremely narrow bowel between segments of normal vasculature, or complete lack of bowel formation (SB or LB)
457
What does the myenteric plexus control?
Peristalsis
458
What is Hirschprung's Disease?
A neurogastric malformation. The myenteric plexus develops top down, beginning at the mouth and development ending at the rectum. If the development of the myenteric plexus stops early, this causes aganglionic bowel distal to this point, causing the inability to peristalse thus bowel obstruction. It is very rare to affect abovethe rectum/.
459
When does Hirschprung's disease usually present?
Within 2-3 days of birth (around time of expected passage of meconium)
460
How can Hirschprung's disease be treated?
A manual washout/decompression of the bowel and ileostomy formation to rest the proximal bowel. Eventually this ileostomy can be pulled through to form an anastomosis with the rectum
461
What can Hirschprung's disease greatly increase the risk of developing?
NEC - the lack of movement in the bowel creates an easy area for infection to develop and thrive
462
What is the treatment for NEC?
Strong, broad IV Abx NBM - bowel rest Resection of dead bowel + stoma where the bowel is most proximally healthy. Stoma reversal and anastomosis possible after atleast 6 weeks of bowel rest.
463
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.
464
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
465
Why must you wait (sometimes for up to years) to repair gastroschisis and exomphalos?
Because the intestines developed outside of the abdomen, there is no physical space to put the intestines back in the body straight away, so you must wait for the abdomen to grow so that there is enough room. Repairing early can cause renal failure as you risk compressing the renal arteries.
466
What are congenital diaphragmatic hernias?
Congenital hernias in the diaphragm... Can have any intrabdominal organs in the thorax - normally more superior ones though. 80% occur on the left side. Can have the entire intestines in the chest if the majority of the diaphragm is absent.
467
What are the potential pulmonary complications of congenital diaphragmatic hernias?
The presence of intrabdominal organs in the thorax can compress the lungs, causing lung hypoplasia and the development of small lungs in utero. The intestines can be moved and the hernia repaired, but the lungs will not develop more.
468
What is phimosis?
A tight, non-retractable foreskin. Normally normal, nothing to worry about Only a concern if there is scarring to the foreskin
469
What is hypospadias?
A congenital condition where the urethral opening is on the ventral side of penis, not the tip. There is normally lack of ventral scrotum, abnormal meatus positioning and an abnormal urethral opening. Not a major issue, usually on psychosocial issues. Can be repaired, but 1/4 have significant complications following repair.
470
What are posterior urethral valves?
A congenital abnormalities where there are valves in the urethra, causing backflow of urine into the bladder and dilatation of the ureters and kidney damage in utero. ~1/3 will need a renal transplant around 20yrs old.
471
What is the definitive treatment of posterior urethral valves?
Cystoscopy to cut away the valves. May need future renal transplant.
472
What is Dietl's crisis
An intermittent PUJ obstruction, often associated with an aberrant vessel to the lower lobe of the kidney. Characterised by: - HTN/headache - Pain/acute abdomen - Abnormal vessel pressing on the PUJ.
473
How are umbilical hernias managed in children?
Normally conservatively - watch and wait 95% resolve spontaneously on their own. Low risk of incarceration. May be surgically repaired around 4-5yrs old if still not closed or problematic.
474
What is omphalitis?
Infection of the umbilical region.
475
What are omphalomesenteric duct remnants?
Failure of complete closure of the omphalomesenteric duct (embryological connection between yolk sac and intestines), leading to small communications between the umbilicus and the bowel. A cause of bowel obstruction if bowel gets trapped on remnant duct.
476
What are uracal duct remenants?
Where the uracus fails to fully close, leaving small communications between the bladder and umbilicus.
477
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.
478
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.
479
What are the embryological remnants of the umbilical vein and ductus venosus?
Umbilical vein: Round ligament of the liver (ligamentum teres hepatis) Ductus venosus: ligamentum venosum
480
What can an absent ductus venosus lead to?
Blood flow directly into the LA or portal vein in utero Can cause hydrops fetalis.
481
What can a patent ductus venosus cause?
(RARE) Liver dysfunction as 50% of blood will continue to bypass the liver. Encephalopathy with hyperammonia, hypoxemia, galactosemia
482
Can the ligamentum venosum reopen in later life?
Yes - uncommon Cirrhosis can cause high portal hypertension, which could place enough pressure on the round ligament and ligamentum venosum to recanalise the structures.
483
What 3 broad categories can congenital heart defects be separated into?
Holes/connections Narrowings Complex
484
Give 3 types of abnormal holes/connections in CHD.
Ventricular septal defects (VSD) Atrial septal defects (ASD) Atrioventricular septal defects (AVSD)
485
Are VSDs or ASDs more common?
VSDs (3-4/1000 live births) ASD (1-2/1000 live births)
486
What are VSDs?
Defects in the interventricular septum. Increased blood flow towards the lungs, may cause pulmonary hypertension. L -> R shunt in the ventricles.
487
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
488
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.
489
Name 3 types of Atrial septal defects.
Ostium Secundum Ostium Primum Sinus Venous ASD
490
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.
491
How may an AVSD present?
Poor feeding, failure to thrive, tachypnoea An active precordium, thrill, gallop rhythm, hepatomegaly and oedema on examination. A murmur may be present, but due to valvular regurgitation rather than septal defects.
492
What is the ductus arteriosus?
An embryological connection between the trunk of the pulmonary and the proximal descending aorta.
493
What is the embryological remnant of the ductus arteriosus?
Ligamentum arteriosus.
494
What is a patent ductus arteriosus.
Failure of the ductus arteriosus to close antenatally. Most common in premature infants (60% cases), all premature infants will have a PDA as it will not close.
495
How may a patent ductus arteriosus present?
Poor feeding, failure to thrive, tachypnoea. Classically have a continuous machinery sounding murmur in the pulmonary area. Often have a bounding pulse.
496
What is the foramen ovale?
A normal connection between the two atria in utero, allowing oxygenated maternal blood to bypass the lungs.
497
What is the embryological remnant of the foramen ovale?
Fossa ovalis
498
What is a patent foramen ovale?
Failure of the foramen ovale to close. The severity depends on the size of the opening and are often asymptomatic.
499
How may a patent foramen ovale present in adults?
Stroke, following venous thromboembolism that passes through the PFA and into the arterial circulation.
500
Is a patent foramen ovale an atrial-septal defect?
No, technically. An ASD occurs when the interatrial septum fails to grow. An PFO is where a normal foramen fails to close, where the atrial septum has grown normally.
501
Give 3 examples of stenoses/narrowings in CHD.
Coarctation of the Aorta Aortic stenosis Pulmonary stenosis
502
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
503
How may coarctation of the aorta present?
Babies will present in shock, collapse and acidotic around 1 week of age. They will have weak femoral pulses but normal brachial pulses. They will have a BP discrepancy between the upper and lower limbs so four limb BPs must be checked.
504
Why does coarctation of the aorta present around 1 week after birth?
Due to closure of the ductus arteriosus at this point. The DA allows blood to bypass the narrowing of the aorta and allows oxygenated blood to circulate. A patent ductus arteriosus is protective in this condition.
505
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.
506
What is aortic stenosis?
Narrowing of the aortic valve. Will have weak pulses, a palpable thrill in the suprasternal region and carotid area. An ejection systolic murmur in the aortic area.
507
How can the presentation of aortic stenosis change in a critical case vs severe case?
Critical: - Acute newborn in shock, collapse and acidosis Severe: - Fatigue, failure to thrive, syncope/collapse
508
What is pulmonary stenosis?
Narrowing of the pulmonary valve. An ejection systolic murmur can be heard loudest in the left sternal border and may radiate to the back. It is not as detrimental to life as AS, may be SoB if severe and may be blue.
509
What are two common (relatively) cyanotic heart conditions?
Transposition of the great arteries Tetralogy of Fallot's
510
What is transposition of the great arteries?
Where the aorta is connected to the RV and the pulmonary artery to the LV. This circulation is not compatible with life. They can be born alive due to shunts, but will collapse when these close. VSDs/ASDs may allow mixing of blood and life, but they will be cyanotic. The only treatment is an emergency surgical switch arterial switch
511
What is dinoprostone (prostin)?
A drug which can maintain the patency of the ductus arteriosus in neonates. In adult women it is also used for cervical ripening and induction of labour at term.
512
What is tetralogy of fallot?
VSD Overriding Aorta - Aorta lies over the VSD, instead of the LV, receives a mix of blood from both ventricles Infundibular stenosis - Pulmonary stenosis - the infundibulum is the area of the RV where the PA arises from RV hypertrophy - Caused due to increased strain to pump past PA stenosis
513
How may an infant with Tetralogy of Fallot present?
Blue or pink, depending on RV outflow due to pressure from stenosis. Murmur - from PA stenosis, not the VSD as it is usually so large there is no pressure gradient Failure to thrive Cyanotic spells: - Muscle spasms can cause patent foramina/ducts to close temporarily leading to cyanosis, limp and floppiness
514
What is a limp?
An asymmetric gait, deviating from the normal, age-appropriate gait pattern
515
What are red flags in a limp?
Unable to weight bear Fever/systemic illness Severe pain: - Worsening limp+pain - Waking at night from pain Redness, swelling, stiffness Weight loss, anorexia
516
What are some causes of a limp in <3yrs old?
Septic arthritis/osteomyelitis Fracture/soft tissue injury Developmental dysplasia of the hip Toddler fracture Non accidental injury
517
What are some causes of a limp in >3yrs old?
Transient synovitis Septic arthritis/osteomyelitis (most commonly occurs <4yrs but can occur in older children) Fracture/soft tissue injury Perthes disease
518
What are common causes of limping in children in all ages?
Obvious injuries to the leg or foot: - sprain, blister, cut, bruise, broken bone etc...
519
How may septic arthritis present?
Fever >38.5 Inability to weight bear Warm, painful swelling of the joint
520
How can septic arthritis be diagnosed?
Clinical picture, Joint aspiration + MCS FBC - raised WCC >12 CRP >20
521
What is the modified Kocher's criteria?
A tool to work out the likelihood of septic arthritis
522
What is transient synovitis (of the hip)?
Inflammation of synovial membrane (of the hip). Typically an acute onset following a recent viral infection, with no systemic upset No pain at rest and can be managed with oral analgesia
523
What is developmental dysplasia of the hip
A condition where the femoral head sits loosely in the acetabulum, due to an abnormally formed acetabulum. It is more common in girls, firstborns, with FHx of childhood hip problems and babies born in breach position. The hip can regularly and easily dislocate.
524
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.
525
What is Perthe's disease?
Rare (1/9000) It occurs when the blood supply to the femoral head becomes disrupted, causing avascular necrosis and weakening/collapse of the femoral head. It can cause deformity of the femoral head and sometimes secondary changes to the shape of the hip joint. It can resolve itself after a few years, but deformity is likely permanent.
526
What does this X-Ray show?
Destruction of the femoral head, likely due to avascular necrosis and collapse.
527
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.
528
What is a rare cause of a limp in children?
Bone tumours. Codman triangle may be seen on X-ray
529
What is Juvenile Idiopathic Arthritis?
Persistent joint swelling lasting at least 6 weeks which onsets before the 16th birthday with no identifiable underlying cause.
530
What does oligoarticular mean?
Less or equal to 4 joints involved
531
What is uveitis?
Inflammation of the middle layer of the eye, uvea or uveal tract.
532
What are some symptoms of uveitis?
Eye pain - usually a dull ache around the eye, worse on focusing Eye redness Photophobia Blurred or cloudy vision Floaters - small shapes moving across your vision Loss of the ability to see objects in the peripheral vision
533
What is acute uveitis?
Uveitis that develops quickly and improves within 3 months
534
What is recurrent uveitis?
Where there are repeated episodes of inflammation separated by gaps of several months
535
What is chronic uveitis?
Where the inflammation lasts longer and returns within 3 months of treatment.
536
How can uveitis be classified?
Anterior: uveitis in the front of the eye (pain, redness) - most common, 3/4 cases Intermediate: uveitis in the middle eye (floaters, blurred vision) Posterior: uveitis at the back of the eye (vision problems)
537
How can uveitis be treated?
Steroid eye drops (anterior) Steroid injections/tablets (middle/posterior)
538
What is psoriasis?
An inflammatory disease of the skin. Dry, red skin lesions (plaques) covered with silvery scales.
539
What is psoriatic arthritis?
Joint pain, stiffness and swelling in a person with existing or newly presenting psoriatic plaque lesions.
540
What are some symptoms of psoriatic arthritis?
Dactylitis Spondylitis/sacroiliitis Uveitis Enthesitis Nail changes.
541
What is dactylitis?
Swelling of a digit (toe/finger)
542
What is enthesitis?
Inflammation of the enthesis, where the tendons join the bone
543
What is spondylitis?
Pain and swelling in the joints of the spine.
544
What nail changes may be seen in psoriatic arthritis?
Pitting Onycholysis Crumbling
545
What allele is psoriatic arthritis associated with?
HLAB27
546
What does polyarticular mean?
5 or more joints affected.
547
What joints are most commonly affected in oligoarticular JIA?
The weight bearing joints of the lower limbs Knee, hip
548
What joints are most commonly affected in polyarticular JIA?
The small joints of the hands, wrist and feet.
549
What may you look for on a genomic test?
Chromosomal deletion or duplication (CGH) Translocation (karyotype) Single gene change (panel, genome)
550
What is CGH in genetic testing?
Comparative Genomic Hybridisation Can detect deletion or duplication of single exons Its main indication is intellectual disability/physical malformations
551
What types of variants can you have in genetic diseases?
Single nucleotide variants Missense (one amino acid swapped for another) Loss of function (to the gene, STOP, frameshifts etc) Splice site variants Short trinucleotide repeats
552
What are the 3 types of single gene disorders?
Autosomal dominant disorders Autosomal recessive disorders X-Linked disorders
553
What do these chromosomes show?
47, XY, +21 A male with downs syndrome
554
What is Turner's syndrome? And what are some associated complications?
45,X - a missing X chromosome, can only occur in females Neonatal: lymphoedema Cardiac: Coarctation of the aorta Fertility: dysplastic ovaries (risk of malignancy)
555
What is Klinefelters syndrome? and what are some characteristics of this condition?
46, XXY - an extra X chromosome, only affects males Delayed puberty Can be tall and slim due to delayed puberty Azoospermia Often incidentally diagnosed when investigating males for infertility
556
What is variable penetrance?
The % of individuals carrying a genetic variant who manifest a disease
557
What is age related penetrance?
The % of individuals who develop a given genetic disease at different ages.
558
What is variable expressivity?
Different phenotypes expressed by different people with the same genetic disease.
559
What is cystic fibrosis? And what are some associated complications?
Missense mutation of the CFTR gene on chromosome 7 - hundreds of missense mutations possible, they vary between ethnicities Prenatal: hyper echoic bowel Neonatal: Meconium ileus Postnatal: Bronchiectasis, exocrine pancreas
560
What is Prader-Willi syndrome?
Neonatal hypotonia and poor feeding Moderate mental delay Hyperphagia and obesity Small genitalia Caused by a deletion in the paternally inherited chromosome 15, or maternal uniparental disomy
561
What is Angelmans syndrome?
'Happy puppet', unprovoked laughing/clapping Microcephaly Mental delay Seizures Ataxia with broad based gait Caused by a deletion in the maternally inherited chromosome 15 or paternal uniparental disomy
562
What is uniparental disomy?
When a person receives two copies of a chromosome or part of a chromosome from one parent, and no copy from the other.
563
Name 3 autosomal dominant conditions.
Huntington's disease Marfans syndrome Familial hypercholesterolemia Achondroplasia
564
Name 3 autosomal recessive conditions.
Sickle cell disease Cystic fibrosis Tay-sachs disease.
565
Name 3 X-linked recessive conditions.
Haemophilia Duchenne Muscular Dystrophy Becker Muscular Dystrophy Red-green colour blindness - daltonism (~7-10% men)
566
How do DMD and BMD differ genetically?
DMD: Out of frame deletion in the Dystrophin gene BMD: In-frame deletion in the Dystrophin gene.

John's 3a Cards (11 decks)

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