Paediatrics Flashcards
1
Q
What is pyloric stenosis
A
Hypertrophy (thickening) and therefore narrowing of the pylorus is called pyloric stenosis.
2
Q
Epidemiology of pyloric stenosis
A
M>F
more common in caucasian
Often family history
first borns more commonly affected
3
Q
O/E pyloric stenosis
A
malnourished and dehydrated
depressed fontanelle
observing the abdomen a wave of gastric peristalsis may be seen
firm, round mass can be felt in RUQ like an olive
4
Q
CBG in pyloric stenosis
A
hypochloric (low chloride) metabolic alkalosis as the baby is vomiting the hydrochloric acid from the stomach. The kidneys will then exchange potassium to retain protons to attempt to compensate, leading to a hypokalaemia
5
Q
Mx pyloric stenosis
A
correct any underlying metabolic abnormalities
may require 10-20ml/kg fluid boluses hypovolaemia
Oral feeding should be stopped and a NG tube passed and aspirated at 4 hourly intervals
Blood gases and U+E’s should be checked regularly
6
Q
treatment of pyloric stenosis
A
laparoscopic pyloromyotomy (known as “Ramstedt’s operation“)
7
Q
Causes of Intestinal Obstruction
A
Meconium ileus
Hirschsprung’s disease
Oesophageal atresia
Duodenal atresia
Intussusception
Imperforate anus
Malrotation of the intestines with a volvulus
Strangulated hernia
8
Q
Ventricular septal defect features
A
commonly associated with Down’s Syndrome and Turner’s Syndrome.
pan-systolic murmur more prominently heard at the left lower sternal border in the third and fourth intercostal spaces. There may be a systolic thrill on palpation.
increased risk of infective endocarditis
9
Q
Causes of asymmetrical IUGR
A
Placental insufficiency
Pre-eclampsia
Toxins: smoking, heroin
Chromosomal and congenital abnormalities
10
Q
Causes of symmetrical IUGR
A
Idiopathic
Incorrect dating
Infections: CMV, parvovirus, rubella, syphillis, toxoplasmosis
Malnutrition
Chromosomal and congenital abnormalities
Toxins: alcohol (FAS), cigarettes, heroin
11
Q
Risk Factors SIDS
A
Prematurity
Low birth weight
Smoking during pregnancy
Parental smoking
Male baby (only slightly increased risk)
Co sleeping with adult
Sleeping on soft surface
Sleeping on stomach/front
12
Q
Minimising risk of SIDS
A
Put the baby on their back when not directly supervised
Keep their head uncovered
Place their feet at the foot of the bed
Keep the cot clear
Maintain a comfortable room temperature (16 – 20 ºC)
Avoid smoking
Avoid co-sleeping
13
Q
How does ductus arterioles close
A
Prostaglandins required to keep the ductus arteriosus open.
Increased blood oxygenation causes a drop in circulating prostaglandins. This causes closure of the ductus arteriosus, which becomes the ligamentum arteriosum.
14
Q
How does ductus venous close
A
After birth the ductus venosus stops functioning because the umbilical cord is clamped and there is no blood flow in the umbilical veins.
The ductus venosus structurally closes a few days later and becomes the ligamentum venosum.
15
Q
How does foramen ovale close
A
Adrenaline and cortisol are released in the stress of labour, stimulating respiratory effort.
The first breaths the baby takes expands the alveoli, decreasing the pulmonary vascular resistance.
This causes a fall in pressure in the right atrium.
So the left atrial pressure is greater than the right atrial pressure, which squashes the atrial septum and causes functional closure of the foramen ovale.
This closes and becomes the fossa ovalis.
16
Q
Blood spot card ( Guthrie/heelprick test) tests for
A
My Mum Said Happy Children Get Infinite amount of Chocolate Pancakes
○ Maple Syrup Disease
○ Medium chain acyl-CoA dehydrogenase deficiency
○ Sickle cell disease
○ Homocystinuria
○ Congenital hypothyroidism
○ Glutaric aciduria type 1 (GA1)
○ Isovaleric acidaemia
○ Cystic fibrosis
○ Phenylketonuria
17
Q
What is
Klinefelter syndrome
A
male has an additional X chromosome.appear as normal males until puberty.
XXY
18
Q
What is Marfan syndrome
A
autosomal dominant condition affecting the gene responsible for creating fibrillin (component of connective tissues)
19
Q
What is Fragile X syndrome
A
caused by mutation in the FMR1 on X chromosome
presents with a delay in speech and language development,macrodactyly, macro-orchidism, long face and large ears.
20
Q
What is Prader-Willi Syndrome
A
loss of functional genes on the proximal arm of the chromosome 15 inherited from the father.
Causes Constant insatiable hunger that leads to obesity
21
Q
Down syndrome additional tests
A
FBC: to screen for myeloproliferative disorders (AML,ALL) and polycythaemia
ECHO - congenital heart disease
Red reflex testing: to screen for congenital cataracts
TFTs: to screen for congenital thyroid disease
Hearing assessment: to screen for congenital hearing issues
Radiographic swallowing assessment: performed if feeding difficulties are present to screen for gastrointestinal abnormalities (e.g. duodenal atresia)
22
Q
What is Hirschprung’s disease
A
nerves that control muscles involved in peristalsis to push faeces through ot the rectum are missing from part of the bowel
23
Q
symptoms of Hirschprung’s disease
A
constipation, which cannot be treated using laxatives or softeners
meconium plug
swollen abdomen
vomit green bile
24
Q
Diagnosis Hirschprung’s disease
A
suggested on x-rays
rectal biopsy - lack of ganglion cells
25
Management Hirschprung’s disease
bowel washouts and surgery - pull through operation to remove affected part of bowel
26
What is Oesophageal atresia
The upper part of the oesophagus doesn't connect with the lower oesophagus and stomach
27
Pathophysiology of inguinal hernia
the testicles develop inside the abdomen. Towards the end of pregnancy, each testicle creates a passage (processus vaginalis) as it travels into the scrotum.
If this passage fails to close and is quite wide, the abdominal lining and sometimes bowel can bulge through it
28
What is a hydrocele
produced by fluid in the sac which normally surrounds the testicle. It often presents as painless swelling in the scrotum. especially premature infants.
29
complications of undescended testes
Impaired fertility
Testicular cancer
Torsion
30
Absence of the fundal reflex in children can be due to
congenital cataracts
retinal detachment
vitreous haemorrhage
retinoblastoma.
31
Prolonged jaundice
More than 14 days in full term babies ( 2 weeks)
More than 21 days in premature babies ( 3 weeks)
32
What is kernicterus
brain damage caused by excessive bilirubin levels
ess responsive, floppy, drowsy baby with poor feeding. The damage is permanent, causing cerebral palsy, learning disability
33
What is biliary atresia
congenital condition , section of the bile duct is either narrowed or absent. results in cholestasis, bile cannot be transported from the liver to the bowel. prevents the excretion of conjugated bilirubin.
presents with prolonged conjugated jaundice, pale stools and dark urine.
treated with a portoenterostomy (Kasai procedure)/ liver transplant
34
What is phototherapy
converts unconjugated bilirubin into isomers that can be excreted in the bile and urine without requiring conjugation in the liver.
35
Cardiac defect seen with trisomy 21
Atrio ventricular septal defect
36
Atrial Septal Defect features
mid-systolic
crescendo-decrescendo loudest at the upper left sternal border
fixed split second heart sound
37
Eisenmenger syndrome.
pulmonary pressure is greater than the systemic pressure, the shunt reverses and forms a right to left shunt across the defect, blood bypasses the lungs and the patient becomes cyanotic
polycythaemia as a result
nly definitive treatment is a heart-lung transplant,
38
Ventricular septal defect features
commonly associated with Down’s Syndrome and Turner’s Syndrome
pan-systolic murmur more prominently heard at the left lower sternal border in the third and fourth intercostal spaces.
may be a systolic thrill on palpation
increased risk of infective endocarditis
39
Patent Ductus Arteriosus
ductus arteriosus remains patent after 4 weeks of life.
Connects the pulmonary artery to the descending aort
40
patent ductus arteriosus features
continuous crescendo-decrescendo “machinery” murmur that may continue during the second heart sound
Left subclavicular thrill
Large volume, bounding, collapsing pulse
Wide pulse pressure
PDA does not cause cyanosis.
41
Mx patent ductus arterioles
NSAIDs, these inhibit prostaglandin synthesis which normally help maintain ductal patency
surgical ligation
42
Right to left shunts
Tetralogy of Fallot
Transposition of the great arteries.
Tricuspid atresia
Eisenmenger syndrome
43
Tetralogy of fallot
Ventricular septal defect
Overriding aorta
Pulmonary valve stenosis
Right ventricular hypertrophy
44
Pulmonary stenosis features
ejection systolic murmur loudest at the pulmonary area (second intercostal space, left sternal border).
45
Tet Spells
intermittent symptomatic periods where the right to left shunt becomes temporarily worsened, precipitating a cyanotic episode.
exercise generates co2, vasodilator, causes systemic vasodilation and therefore reduces the systemic vascular resistance,blood will be pumped from the right ventricle to the aorta rather than the pulmonary vessels, bypassing the lungs.
46
tet spell tx
Squatting increases the systemic vascular resistance. Help increase venous return . This encourages blood to enter the pulmonary vessels. Helps to push blood flow from L→ R
o2 if hypoxic
Beta blockers can relax the right ventricle and improve flow to the pulmonary vessels.
IV fluids can increase pre-load
47
Tetraollgy of allot Ix
ECHO and chest xray may show the characteristic “boot shaped” heart due to right ventricular thickening.
48
Tetralogy of fallot mx
In neonates, a prostaglandin infusion can be used to maintain the ductus arteriosus. This allows blood to flow from the aorta back to the pulmonary arteries.
Total surgical repair by open heart surgery is the definitive treatment
49
Epidemiology transposition of great arteries
most likely cyanotic heart defect to presents soon after birth in the newborn
M>F
50
Clinical Presentation transposition of great arteries
often diagnosed during pregnancy with antenatal ultrasound scans
cyanosis at or within a few days of birth.
within a few weeks of life they will develop respiratory distress, tachycardia, poor feeding, poor weight gain and sweating (symptoms of Congestive HF)
Saturations won't rise much despite giving oxygen
loud single S2
Prominent right ventricular heave
51
Mx transposition great arteries
prostaglandin infusion can be used to maintain the ductus arteriosus. This allow blood from the aorta to flow to the pulmonary arteries for oxygenation.
Balloon septostomy involves inserting a catheter into the foramen ovale via the umbilicus, and inflating a balloon to create a large atrial septal defect. This allows blood returning from the lungs (on the left side) to flow to the right side of the heart and out through the aorta to the body.
Open heart surgery is the definitive management
52
What is coarctation of aorta
narrowing of the aortic arch, usually around the ductus arteriosus. often associated with Turners syndrome.
53
Coarctation of aorta features
weak femoral pulses
systolic murmur heard below the left clavicle
Left ventricular heave due to left ventricular hypertrophy
54
Mx coarction
Prostaglandin E is used keep the ductus arteriosus open while waiting for surgery. This allows some blood flow flow through the ductus arteriosus into the systemic circulation distal to the coarctation. Surgery is then performed to correct the coarctation and to ligate the ductus arteriosus. Angioplasty +/- stent with interventional radiology
55
What is Ebstein anomaly
tricuspid valve is set lower in the right side of the heart (towards the apex), causing a bigger right atrium and a smaller right ventricle.
56
Henoch-Schonlein Purpura (HSP) features
Purpura (100%),
Joint pain (75%),
Abdominal pain (50%)
Renal involvement (50%)
57
Kawasaki disease features
Fever last 5 or more days without any other cause
Plus at least 4 out of the following :
Bilateral non-purulent conjunctivitis
Polymorphous rash
Cervical lymphadenopathy
Peripheral peeling / oedema / erythema
Oral mucous membrane changes( eg Strawberry tongue)
CRASH and Burn:
Conjunctivitis
Rash
Adenopathy
Strawberry tongue
Hands and feet redness/peeling
Burn = fever > 5 days
CRASH has 5 letters, hence the 5 day fever
58
treatment of Kawasaki disease
Typically self limiting after 12 days BUT cardiac complications mean treatment required
High dose aspirin to reduce the risk of thrombosis
IV immunoglobulins to reduce the risk of coronary artery aneurysms
59
Reye’s syndrome.
•Rare
•Usually occurs in children between 5 and 14 years of age
•Acute encephalopathy and fatty degeneration of the liver
•Usually follows viral illness, with rapid deterioration
•Overall mortality rate ~ 20%
•Associated with use of aspirin
60
Red flags for constipation
Reported from birth
Failure to pas meconium ( CF/hirschsprung)
Ribbon stools (anal stenosis)
Abdo distension without vomiting
Neurological signs/symptoms
Vomiting (intestinal obstruction or Hirschsprung’s disease)
Abnormal appearance anus/lower back/lower limbs
Failure to thrive (coeliac disease, hypothyroidism or safeguarding)
Acute severe abdominal pain and bloating (obstruction or intussusception)
61
Treatment for volvulus
Ladd’s procedure.
straighten out the twisted bowel and check it for any unhealthy areas.
child’s appendix will also likely be taken out at this time.
62
What is paediatric volvulus
caused by malrotation, bowel does not coil up in the correct position, causes the small intestine to twist around the superior mesenteric artery
63
What is necrotising entercolitis
disorder affecting premature neonates, where part of the bowel becomes necrotic.
presents with bilious vomiting and rectal bleeding.
64
Clinical Presentation NEC
Intolerance to feeds
Vomiting, particularly with green bile
Generally unwell
Distended, tender abdomen
Absent bowel sounds
Blood in stools
65
Mx NEC
NBM
IV fluids
TPN
Abx
NG tube can be inserted to drain fluid and gas from the stomach and intestines.
surgical emergency
66
Intussusception epidemiology
3 months to 3 years
M>F
67
Intussusception features
viral upper respiratory tract infection preceding the illness and will have features of intestinal obstruction
Vomiting, abdominal pain and Redcurrant jelly stool (mucous on blood)
68
O/E Intussusception
RUQ mass on palpation
“sausage-shaped”
USS positive in >95%.
Target sign
69
Mx Intussusception
Resuscitation
radiological air reduction
Therapeutic enemas
Surgical reduction may be necessary if enemas do not work.
70
Meckel diverticulum
occurs in 2% of the population
2% are symptomatic
mostly in children < 2 years
affects males twice as often as females
is located 2 feet proximal to the ileocecal valve,
is ≤ 2 inches long
71
Precocious puberty
child's body begins changing into that of an adult (puberty) too soon. When puberty begins before age 8 in girls and before age 9 in boys
72
Turner syndrome features
female has a single X chromosome or a deletion of the short arm of one of the X chromosomes
Short stature
Webbed neck
widely spaced nipples
73
Perthes disease definition
disruption of blood flow to the femoral head, causing avascular necrosis of the bone. This affects the epiphysis of the femur
also called Legg-Calvé-Perthes disease.
74
Epidemiology of Perthes disease
4 -12 years
M>F
75
Perthes disease Mx
Bed rest
Traction
Crutches
Analgesia
Physiotherapy
Regular x-rays are used to assess healing.
Surgery may be used in severe cases, older children or those that are not healing.
76
Epidemiology of
Development dysplasia of the hip
more common in the left hip, first born children, girls , European origin, those who were breech
77
Babies should have an ultrasound scan of their hip between 4 and 6 weeks old if
doctor, midwife or nurse thinks their hip feels unstable
there have been childhood hip problems in your first degree family (parents, brothers or sisters)
your baby was in the breech position (feet or bottom downwards) in the last month of pregnancy (at or after 36 weeks)
your baby was born in the breech position after 28 weeks of pregnancy
78
Barlow test
Barlow's is Bad (dislocate)
79
ortolani
ORTolani- ORThopaedic doctors relocate joints
80
Mx of developmental dysplasia of the hip
abduction harness (Pavlik harness)
Surgery is required for children with severe DDH and in those >6m with reduction
81
Transient synovitis
It is caused by temporary (transient) irritation and inflammation in the synovial membrane of the joint (synovitis).
82
Epidemiology of transient synovitis
3- 10 years
associated with a recent viral upper respiratory tract infection.
83
Clinical presentation transient synovitis
typically do not have a fever
Limp
Refusal to weight bear
Groin or hip pain or of knee pain
Limited range of motion
84
Mx transient synovitis
exclude septic arthritis
self-limiting, requiring only rest and analgesia, eg NSAIDS and bed rest for up to 6 weeks
improvement in symptoms after 24 – 48 hours
85
What is Juvenile idiopathic arthritis
characterised by onset before 16 years of age and the presence of objective arthritis (in one or more joints) for at least 6 weeks.
86
Epidemiology Juvenile idiopathic arthritis
Age <6 years
Most subtypes are more common in girls.
87
Clinical features of JIA
Joint pain/swelling
fever
Morning stiffness
limp, limited movement
rash ( salmon colour eg on trunk)
anterior uveitis
88
Treatment of JIA
Polyarticular: 5 or more joints
1. DMARD eg methotrexate
Adjuncts: Biological therapy TNF alpha inhibitor eg etanercept, NSAID, corticosteroids
Oligoarticualr/systemic onset : 1. corticosteroid
89
Risk factors for slipped upper femoral epiphysis
puberty, obesity, endocrine disorders, male, African american children, prior radiotherapy
90
Ix Slipped upper femoral epiphysis
Bilateral anterior posterior x rays
abnormal Klein line does not intersect the epiphysis, as the femoral neck has moved proximally and anteriorly relative to the epiphysis
91
Mx slipped upper femoral epiphysis
treated surgically as soon as it is recognised
not to bear weight on the affected hip
92
Mx septic arthritis
ultrasound-guided joint aspiration and possible surgical debridement.
sepsis 6
Flucloxacillin for 4-6 weeks is recommended first line in the BNF for septic arthritis
93
In children and young people the frequent causes of meningitis are
Neisseria meningitidis (meningococcus), streptoccous pneumoniae, haemophilus influenzae type b
94
In neonates (children younger than 28 days), the most common cause of meningitis are
Streptococcus agalactiae (Group B streptococcus),
Escherichia coli, S pneumoniae
Listeria monocytogenes.
95
Management neonatal sepsis
intravenous benzylpenicillin with gentamicin for 7d
96
Assess children with fever for signs of dehydration. Look for:
prolonged capillary refill time
abnormal skin turgor
abnormal respiratory pattern
weak pulse
cool extremities
97
Clinical indicators of possible early-onset neonatal infection
Apnoea
Seizures
Signs of shock
Altered behaviour or responsiveness
Altered muscle tone (for example, floppiness)
Feeding difficulties
Signs of neonatal encephalopathy
Temperature abnormality
Jaundice
Unexplained excessive bleeding
Altered glucose homeostasis
Metabolic acidosis
98
Clinical indicators of possible Late onset neonatal infection
Parent/ care give concern for change in behaviour of neonate
raised RR
Persistent tachycardia/bradycardia
Skin: Mottled or ashen appearance, Cyanosis of skin, lips or tongue . Non-blanching rash of skin
Temp changes
Alterations in feeding pattern, Abdominal distension, Seizures, Bulging fontanelle
99
NICE recommend a lumbar puncture if
Under 1 month presenting with fever
1 to 3 months with fever and are unwell
Under 1 year with unexplained fever and other features of serious illness
100
Contraindications to lumbar puncture
• signs suggesting raised intracranial pressure
(reduced or fluctuating level of consciousness (Glasgow Coma Scale score less than 9 or a drop of 3 or more)
• relative bradycardia and hypertension
• focal neurological signs
• abnormal posture or posturing
• unequal, dilated or poorly responsive pupils
• papilloedema
• abnormal 'doll's eye' movements)
• shock
• extensive or spreading purpura
• after convulsions, until stabilised
• coagulation abnormalities (
platelet count below 100 x 109/litre
receiving anticoagulant therapy)
• local superficial infection at the lumbar puncture site
• respiratory insufficiency
101
Post exposure prophylaxis for meningitis
ciprofloxacin.
102
Medical management of raised ICP
• endotracheal intubation (if GCS<8) , ventilate: Maintain pCO2 4.5-5.5 kPa
• 200 head up position with head in-midline
• Mannitol or hypertonic saline
• Dexamethasone for oedema surrounding SOL
• Catheterise & monitor u/o because distended bladder may aggravate raised ICP
103
Best verbal response GCS scale<4 years
Alert, coos 5
Less than usual words, spontaneous irritable cry 3
Cries only to pain 3
Moans to pain 2
No response to pain 1
104
Treatment of Status epilepticus
Buccal midazolam or IV lorazepam
105
Conditions associated with acute confusional state in childhood:
fever induced delirium
sleep disturbance/parainsomnia
head trauma bleeding
CND infections, inflammations: meningitis, encephalitis, brain abscess
Metabolic: hyponatraemia, hypoglycaemia hyperammonaemia, uraemia, severe acidosis
Intoxication
Epilespy
Migraine
Vascular, raised ICP: CNS tumour, hydrocephalus,AVN malformation
Hypoxia
Hypovolaemia
Septiceamia
Hypertensive encepahtlopty
106
most likely organism to cause croup
parainfluenza virus
107
epidemiology croup
roughly 6 months - 2 years
M>F
108
Tx croup
single dose of oral dexamethasone
109
Mx uti children under 3 months with a fever
should start immediate IV antibiotics (e.g. ceftriaxone) and have a full septic screen, including blood cultures, bloods and lactate. A lumbar puncture should also be considered.
110
children aged more than 3 months old with a lower UTI should be treated with oral antibiotics for
3 days according to local guidelines, usually trimethoprim, nitrofurantoin, cephalosporin or amoxicillin
111
Mx children aged more than 3 months old with an upper UTI
Consider admission
If not admitted oral antibiotics such as cephalosporin or co-amoxiclav should be given for 7-10 days
112
Vesico-Ureteric Reflux (VUR)
urine has a tendency to flow from the bladder back into the ureters. Vesico ureteric reflux which is severe and reaching the kidney can cause pelvicalyceal system dilatation. This predisposes patients to developing upper urinary tract infections and subsequent renal scarring. This is diagnosed using a micturating cystourethrogram (MCUG).
113
Innocent murmurs typical features
Soft
Short
Systolic
Symptomless
Situation dependent (standing/sitting) , particularly if the murmur gets quieter with standing or only appears when the child is unwell or feverish
- S1 & S2 normal
Special tests normal
Sternal depression (i.e. pectus excavatum apparently)
114
Venous hums
innocent ejection murmur Due to the turbulent blood flow in the great veins returning to the heart. Heard as a continuous blowing noise heard just below the clavicles
115
Still's murmur
innocent ejection murmur
Low-pitched sound heard at the lower left sternal edge
116
Duodenal atresia
often shows up on antenatal screening. It present with bilious vomiting hours after birth and after first feed. associated with Down syndrome. Does not present with meconium ileum and bowel distension.
double bubble sign
117
Turner syndrome cardiac associations
bicuspid aortic valve and aortic coarctation.
118
Potters syndrome
describes the typical physical appearance caused by pressure in utero due to oligohydramnios, classically due to bilateral renal agenesis.
Flattened 'parrot-beaked' nose
Recessed chin
Prominent epicanthal folds
Low-set, cartilage-deficient ears (known as 'Potter's ears')
pulmonary hypoplasia.
dry loose skin
clubbed feet
119
Acute Epiglottitis
A rapidly progressive infection causing inflammation of the epiglottis (the flap that covers the trachea) and tissues around the epiglottis that may lead to abrupt blockage of the upper airway and death.
120
Clinical presentation di George syndrome
C- cardiac abnormalities (interrupted aorta, VSD)
A- abnormal face
T- thymic aplasia (low T Cells)
C- cleft palate
H- hypoparathyroidism
22 - 22q11.2 deletion
121
Ventricular septal defect features
pan-systolic murmur more prominently heard at the left lower sternal border in the third and fourth intercostal spaces.
may be a systolic thrill on palpation
increased risk of infective endocarditis
122
Down's syndrome features
caused by trisomy 21
Brushfield spots (white spots at the periphery of the iris)
Prominent epicanthal folds
Flat facial features
A single palmar crease
A sandal gap
Congenital heart disease
learning difficulties increased risk of developing acute lymphoblastic leukaemia and Alzheimer's
hypotonia
123
Edwards syndrome
caused by trisomy 18
Low-set ears
Micrognathia
Microcephaly
Overlapping 4th and 5th fingers
Rocked bottomed feet
Congenital heart disease.
It is rare for children to survive more than a few months of age.
124
Patau's syndrome features
caused by trisomy 13
Holoprosencephaly (failure of the 2 cerebral hemispheres to divide, which might present with only one eye and a nose with a single nostril)
small eyes
Cleft lip and palate
Microcephaly
Polydactyly
Congenital heart disease
It is rare for children with Patau's syndrome to survive more than a few weeks
125
TORCH infections
group of congenital infections that are passed from mother to child at some time during pregnancy, during delivery, or after birth.
Toxoplasma gondii,
other agents (syphilis, hepatitis B)
Rubella
cytomegalovirus (CMV)
herpes simplex virus (HSV)
126
nocturnal enuresis is considered normal until the age of
5
Most children get control of daytime urination by 2 years and nighttime urination by 3 – 4 years.
127
causes of primary nocturnal enuresis
Polyuria
Bladder dysfunction
Failure to wake due to
particularly deep sleep
, underdeveloped bladder signals
Fluid intake prior to bedtime
Psychological distress
Secondary causes such as chronic constipation,uti,LD
128
Bedwetting management
1.advice and reward
2.alarm
3.drugs (desmopressin if >7 y old)
129
Cryptorchidism
congenital absence of one or both testes in the scrotum due to a failure of the testes to descend during development.
130
Difference between Duchenne and Becker's muscular dystrophy
Duchenne's- the dystrophin protein involved in muscle contraction is not expressed. Becker's- the protein is expressed at a low level.
131
Duchennes presentation
- Boys present around 3 – 5 years with weakness in the muscles around their pelvis. - -weakness progressive and eventually all muscles affected.
- waddling gait, language delay, pseudohypertrophy of the calves ( degenerated muscle replaced by fat) , positive Gower’s
- Parents may notice that the child 'slips through their hands' when they pick them up (due to loose muscles in the shoulder).
132
Prognosis duchennes
They are usually wheelchair bound by the time they become a teenager. They have a life expectance of around 25 – 35 years with good management of the cardiac and respiratory complications.
133
Management duchennes
Oral steroids have been shown to slow the progression of muscle weakness by as much as two years. Creatine supplementation can give a slight improvement in muscle strength. Genetic trials are ongoing.
134
Presentation Beckers Muscular Dystrophy
Symptoms only start to appear around 8 – 12 years. Some patient require wheelchairs in their late 20s or 30s . Others able to walk with assistance into later adulthood.
135
Presentation Myotonic dystrophy
presents in adulthood. Typical features are:
Progressive muscle weakness
Prolonged muscle contractions ( eg patient that is unable to let go after shaking someones hand)
Cataracts
Cardiac arrhythmias
136
Presentation Facioscapulohumeral Muscular Dystrophy
presents in childhood with weakness around the face, progressing to the shoulders and arms. A classic initial symptom is sleeping with their eyes slightly open and weakness in pursing their lips. They are unable to blow their cheeks out without air leaking from their mouth.
137
Presentation Oculopharyngeal Muscular Dystrophy
presents in late adulthood . It typically presents with bilateral ptosis, restricted eye movement and swallowing problems.
138
Presentation
Limb-girdle Muscular Dystrophy
teenage years with progressive weakness around the limb girdles (hips and shoulders).
139
Presentation Emery-Dreifuss Muscular Dystrophy
presents in childhood with contractures, most commonly in the elbows and ankles. Contractures are shortening of muscles and tendons that restrict the range of movement in limbs. Patients also suffer with progressive weakness and wasting of muscles
140
three key methods for establishing a CF diagnosis
Newborn blood spot testing - Raised level of immunoreactive trypsinogen
sweat test is the gold standard - Pilocarpine and electric current is applied, swear diagnostic chloride concentration for cystic fibrosis is more than 60mmol/l.
Genetic testing for CFTR gene can be performed during pregnancy by amniocentesis or chorionic villus sampling, or as a blood test after birth
141
Kartagner’s Triad describes the three key features of Primary ciliary dyskinesia
Paranasal sinusitis
Bronchiectasis
Situs Inversus
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Most common CF mutation
genetic mutation of the cystic fibrosis transmembrane conductance regulatory gene on chromosome 7,band q31. 800 mutations exist, the most common is the delta-F508 mutation. Around 1 in 25 are carriers of the mutation and 1 in 2500 children have CF.
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CF symptoms
Meconium ileus
chronic cough, thick mucus, steatorrhoea, ftt
Congenital bilateral absence of the vas deferens
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CF Mx
Chest physiotherapy
Exercise
High calorie diet
CREON tablets to digest fats
Prophylactic flucloxacillin
Bronchodilators
Nebulised DNase for rest secretions
Nebulised hypertonic saline
vaccinations
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Febrile convulsion epidemiology
6m-6y, peak age is around 1y
affects 2-5% of children in Western Europe and the United States
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Aetiology febrile convulsion
Unknown
FHx
Viral infections can trigger eg roseola - human herpes simplex virus 6
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Simple Febrile Convulsions
generalised, tonic clonic seizures.
last less than 15 minutes
Usually occurs on the first day of fever and only occur once during a single febrile illness.
Uneventful recovery from seizure
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Complex Febrile Convulsions
consist of partial or focal seizures
last more than 15 minutes
or occur multiple times during the same febrile illness.
May suffer from Todd’s paresis (rarely)
Febrile status epilepticus – a subgroup of complex febrile seizure where the seizure duration exceeds 30 minutes, or there are multiple seizures lasting a total of 30 minutes without recovery between each one
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Acute management febrile seizure
A-E
monitor
well hydrates
paracetamol/ibuprofen
explanation
If the seizure lasts for >5 minutes give emergency benzodiazepine rescue treatment
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Risk of developing epilepsy after febrile seizure
1.8% for the general population
2-7.5% after a simple febrile convulsion
10-20% after a complex febrile convulsion
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Hypoxic ischaemic encephalopathy
management
supportive care with neonatal resuscitation and ongoing optimal ventilation, circulatory support, nutrition, acid base balance and treatment of seizures.
Babies near or at term considered to have HIE can benefit from therapeutic hypothermia 33-34 degrees
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Short Stature
Definition
height is 2 standard deviations below average height
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Definition Failure to thrive / faltering growth
Weight below 5th percentile for age and sex or
Weight for age curve falls across two major percentile lines or
Weight gain is less than expected
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IUGR
applies to neonates born with clinical features of malnutrition and in-utero growth restriction, irrespective of their birth weight percentile
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Asymmetric IUGR
More common
3rd rimester
Causes: placental insufficiency, pre eclampsia, toxins , chromosomal and congenital abnormalities
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Puberty in Girls
normal sequence is breast bud development, pubic hair development and then menarche.
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Puberty in boys
• testicular enlargement (Tanner stage 2 )
• later growth spurt
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Congenital Adrenal Hyperplasia
congenital deficiency of the 21-hydroxylase enzyme. This causes underproduction of cortisol and aldosterone, and overproduction of androgens from birth. It is a genetic condition inherited in an autosomal recessive pattern.
In severe cases, the neonate is unwell shortly after birth, with electrolyte disturbances and hypoglycaemia. In mild cases, female patients can present later in childhood or at puberty with typical features
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Paediatric syndromes with cardiac involvement
Trisomy 21: Septal defects are most common with atrioventricular septal defects (AVSD) being the most common
Foetal alcohol syndrome: Ventricular septal defect
DiGeorge syndrome: Aortic arch defects
Turner syndrome: Bicuspid aortic valves and coarctation of the aorta
Noonan syndrome: Pulmonary stenosis
Edward's syndrome: Septal defects
Patau syndrome: Dextrocardia
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Noonan syndrome
AD
Short stature
Broad forehead
Downward sloping eyes with ptosis
Hypertelorism (wide space between the eyes)
Prominent nasolabial folds
Low set ears
Webbed neck
Widely spaced nipples
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Infantile umbilical hernia features and management
Symmetrical bulge under the umbilicus
More common in premature and Afro-Caribbean babies
The vast majority resolve without intervention before the age of 4-5 years
Complications are rare
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Congenital inguinal hernia features and management
Indirect hernias resulting from a patent processus vaginalis
More common in premature babies and boys
60% are right sided, 10% are bilaterally
Should be surgically repaired soon after diagnosis as at risk of incarceration
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first line for chronic constipation
Initial treatment of chronic constipation is with a movicol disimpaction regimen
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Angelman syndrome
fascination with water
happy
fair features
wide mouth and widely spaced teeth
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Causes of cerebral palsy
Antenatal - Maternal infections
Intrapartum - trauma , birth asphyxia, preterm
Postnatal - meningitis, severe jaundice, head injury, IVH
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Spastic Cerebral palsy
hypertonia (increased tone) and reduced function resulting from damage to upper motor neurones.
most common type
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Dyskinetic Cerebral palsy
problems controlling muscle tone, with hypertonia and hypotonia, causing athetoid movements and oro-motor problems. This is the result of damage to the basal ganglia.Dyskinetic CP is also known as athetoid CP and extrapyramidal CP
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Ataxic Cerebral Palsy
problems with coordinated movement resulting from damage to the cerebellum.This can result in a tremor, instability, and incoordination.
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Signs and symptoms of cerebral palsy
Failure to meet milestones
Increased/decreased tone, generally or in specific limbs
Hand preference below 18 months
Problems with coordination, speech or walking
Feeding or swallowing problems
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Risk factors for childhood asthma
genetic
environmental: low birth weight, premature, parental smoking
Viral bronchiolitis in early life
atopic disease
allergic sensitisation
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Mx paediatric asthma
1. PRN SABA
2. Corticosteroid if >5y, LTRA If <5y
3. add on LABA or LTRA if >5y
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Mx viral induced wheeze
first-line is treatment with short acting beta 2 agonists (e.g. salbutamol) or anticholinergic via a spacer 10 puffs
next step is intermittent leukotriene receptor antagonist (montelukast), intermittent inhaled corticosteroids, or both
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Anaphylaxis adrenaline dose
Children 6-12 years: 300 microgramsIM (0.3mL)
Children less than 6 years: 150 micrograms im (0.15 ml)
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Bronchiolitis epidemiology
under 2 years of age
175
Bronchiolitis presentation
coryzal prodrome lasting 1 to 3 days, followed by:
persistent cough and
either tachypnoea or chest recession, wheeze/crackles
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William syndrome
deletion of genetic material on one copy of chromosome 7
Broad forehead
Starburst eyes (a star-like pattern on the iris)
Flattened nasal bridge
Long philtrum
Wide mouth with widely spaced teeth
Small chin
Very sociable trusting personality
Mild learning disability
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Mesenteric adenitis
(infection, often viral) triggers the inflammation and swelling in the lymph glands causing tummy pain.
in children <16y
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Cause of whooping cough/pertussis
bordetella pertussis,Gram-negative
179
Infectious mononucleosis/glandular fever epidemiology
common in people aged 15–24 years
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Infectious mononucleosis/glandular fever symptoms
Fever
Sore throat
Fatigue
Lymphadenopathy
Tonsillar enlargement
Spleno/hepatomegaly
usually asymptomatic in children < 3y
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Infectious mononucleosis/glandular fever Ix
FBC, Monospot test ( heterophile ab in immunocompetent adults, EBV seroly in children <12y and who are ic)
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Mx Infectious mononucleosis/glandular fever
usually self limiting, acute illness lasts around 2 – 3 weeks
can have persisting fatigue
avoid alcohol EBV affects liver function
Avoid contact sports due to splenic rupture risk
Limit spread disease avoid kissing etc
When incorrectly treated with antibiotics, and most commonly amoxicillin and ampicillin, patients with EBV can develop a scarring rash
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Eisenmenger syndrome.
pulmonary pressure is greater than the systemic pressure, the shunt reverses and forms a right to left shunt across the ASD, blood bypasses the lungs and the patient becomes cyanotic
