Paediatrics👶🏻 Flashcards
1
Q
What are the features of congenital rubella syndrome?
A
Congenital deafness, congenital cataracts, congenital heart disease (PDA and pulmonary stenosis) and learning disability
2
Q
What are the features of congenital varicella syndrome?
A
Fetal growth restriction, microcephaly, hydrocephalus and learning disability. Scars and significant skin changes in specific dermatomes. Limb hypoplasia and cataracts.
3
Q
What are the features of congenital cytomegalovirus?
A
Fetal growth restriction, microcephaly, hair loss, vision loss, learning disability, seizures.
4
Q
What are the features of congenital toxoplasmosis?
A
Intracranial calcification, hydrocephalus, chorioretinitis.
5
Q
What is the aetiology of Turners Syndrome?
A
XO in which only one sex chromosome is inherited.
6
Q
Give features of Viral episodic wheeze?
A
- No interval symptoms
- No history of excess atopy
- Likely to improve with age
- No benefit from regular inhaled steroids
7
Q
What is epiglottitis caused by?
A
Haemophilus Influenzae
8
Q
What is the classic cause of croup?
A
Parainfluenza virus (BARKING COUGH)
9
Q
What is the management of croup?
A
Most cases can be managed at home wth simple supportive treatment.
Oral dexamethasone is very effective. This is usually 150mcg/kg which can be repeated after 12 hours.
10
Q
How is pneumonia diagnosed?
A
History of cough and/or difficulty breathing (<14 days) with increased respiratory rate
- <2 months - 60/min
- 2-11 - 50/min
- 11 months - 40/min
11
Q
What is bronchiolitis caused by usually?
A
Respiratory synctial virus is the common pathogen in 78-80%
12
Q
What are the cyanotic congenital heart diseases?
A
- Tetralogy of Fallot
- Transposition of the great arteries
13
Q
Describe VSD
A
Most common congenital heart defect
S&S: tachycardia, tachyopnea, FTT, HF, pansystolic murmur (L lower stern edge)
Mx: Small – will close spontaneously. Large – surgical closure + diuretics
14
Q
Describe ASD
A
S&S: commonly none, tachypnea, FTT, wheeze, ejection sytolic murmur (L upper S.E)
Mx: Small – will close spontaneously. Large – surgical closure
15
Q
Describe PDA
A
DA connects aorta to pulmonary artery
Term infant normally closes by 1/12.
S&S: tachypnea, FTT, continuous machine like murmur (below L clavicle), bounding pulse
Mx: NSAID’s (indomethacin) or surgical ligation
16
Q
Describe Tetralogy of Fallot
A
4 components?
Pulmonary stenosis, VSD, Overriding aorta, RVH
S&S:
Severe cyanosis, hypercyanotic spells on; exercise, crying, defecating,
squatting on exercise, ejection systolic murmur, clubbing of fingers and toes (late)
Mx:
Surgery at 6 months – close VSD, relieve Pul. outract obstruction
17
Q
Define transposition of the great arteries
A
Pulmonary artery and Aorta swap
RV –> Aorta –> Around the Body –> RA
LV –> Pulmonary Artery –> Lungs –> LA
18
Q
Define transposition of the great arteries
A
Pulmonary artery and Aorta swap
RV –> Aorta –> Around the Body –> RA
LV –> Pulmonary Artery –> Lungs –> LA
S&S:
Often present on day 2 of life (after DA closes) with severe life threatening cyanosis
Mx:
Maintain PDA (prostaglandin infusion), Surgical; atrial sepstostomy and correction
19
Q
What are the signs of a harmless murmur?
A
4 S’s
Soft, Systolic, aSymptomatic, L Sternal edge
20
Q
What is the presentation of acute epiglottitis?
A
- Sore throat in a septic looking child
- Child unable to speak or swallow (drooling)
- Sitting upright, immobile with open mouth to optimise airway
- Soft inspiratory stridor, increased resp distress, little/no cough
21
Q
What is the causative pathogen of whooping cough and what is the incubation period?
A
Bordetella Pertussis
Highly contagious and infectious. Epidemic every 3-4 years
Incubation 10-14 days
22
Q
What is the management of whooping cough?
A
< 1month Azithromycin 5days
>1 month Azithromycin/ Erythromycin 7days
School exclusion
23
Q
What is Palivizumab?
How often is it give and who to?
A
Monoclonal antibody
IM once per month through autumn and winter
CF, immunocompromised, congenital heart disease, Downs syndrome
24
Q
What is a life threatening asthma attack in under 5 ?
A
Sats <92%, silent chest, bradycardic, poor resp effort, altered consciousness, cyanosed
25
What is a severe asthma attack in over 5 years old?
Sats <92%, PEF <50%, unable to complete sentences, HR >125, RR >30 use of accessory neck muscles
26
What is the gene defect in cystic fibrosis?
Autosomal recessive defect in CFTR
Codes cAMP regulated chloride channels in cell membranes (chromosome 7)
Commonest AR in Caucasians, 1 in 25 carriers
27
How do you diagnose cystic fibrosis?
- Guthrie heel prick screening test
- Faecal elastase (low levels)
- Sweat test (Cl ions markedly)
- Gene abnormalities in CFTR protein
28
What are the signs and symptoms of pyloric stenosis?
Weight loss, FTT, hungry after feeds
Visible gastric peristalsis, palpable abdo mass on feeding
Signs on bloods - Hypokalaemic, hypochloraemic, metabolic alkalosis
29
What is the management of pyloric stenosis?
Ramstedt's pyloromyotomy
30
What are the clinical features of intussusception?
Severe paroxysmal abdominal colic pain
Child draws knees up to chest, becomes pale, screaming in pain
Vomiting – may become billious
Blood and mucous in stool – REDCURRENT JELLY
RLQ abdo mass – SAUSAGE SHAPED
31
What signs of intussusception would you see on USS Abdo?
Doughnut/target sign
32
What is the management of intussusception?
Rectal air insufflation
33
How does Intestinal malrotation present?
Presents day 1-7 of life:
BILLIOUS VOMITING (below ampulla of vater)
Abdo pain
Tenderness (peritonitis/ischaemic bowel)
Bile stained vomit in 1st week of life = Malrotation until proven otherwise!
34
What is the management of intestinal malrotation?
Ladd's procedure- rotates bowel anti-clockwise
35
What is Hirschsprung's disease?
Absence of ganglionic cells from myenteric plexus of large bowel
Results in a narrow, contracted segment of bowel
75% cases confined to recto-sigmoid
Commonly ileum moves into caecum via ileo-caecal valve
36
What is the triad of findings in haemolytic uraemic syndrome??
AKI thrombocytopenia and a normocytic anaemia
37
When do children receive the MMR vaccine?
1 year and 3y4m
38
When do children receive the HPV vaccine?
12-13y
39
What is the investigation for ALL?
Blood film and bone marrow biopsy
40
How does congenital adrenal crisis present?
The symptoms that present and the age at which they become apparent depends on the degree of cortisol and/or aldosterone deficiency.
Boys with severe CAH show symptoms soon after birth, when a baby develops heart rhythm abnormalities, dehydration and vomiting. The levels of minerals (electrolytes) in the body are also affected, particularly showing low salt levels (hyponatraemia) and low blood sugar levels (hypoglycaemia).
41
What pathogen is involved in Infectious mononucleosis?
EBV in 90% of cases. Less frequent causes include CMV and HHV-6
42
What are 'sanctuary sights' in ALL and where are they?
The testes and CNS are recognised as areas which are protected from chemotherapeutic agents (due to the existence of the blood brain barrier for CNS.
43
What treatments are available for sickle cells disease?
- Prophylactic penicillin as the vast majority have had a splenectomy
- Stem cell transplantation is a curative treatment but is not often done due to the significant risks involved.
- Hydroxycarbamide is used to prevent vaso-occlusive complications of sickle cell disease.
- Blood transfusions can be used if the patient is suffering from severe anaemia or to reduce the proportion of Hbs.
44
What is the deficiency in Haemophilia A?
Factor 8
45
What is the deficiency in Haemophilia B?
Factor 9
46
What are the clinical features of Kawasaki disease?
Conjunctivitis
Rash
Adenopathy
Strawberry tongue
Hands (palmar erythema, swelling)
Burn (fever >5 days)
CRASH and Burn
47
What do you use to monitor Hodgkin's lymphoma?
Positron emission tomography (PET)
48
What is the most common age group for Perthes disease?
5-10 years
49
What are some risk factors for developmental dysplasia of the hip?
Females are 6x more likely to have DDH
Breech birth, high birth weight, oligohydramnios, prematurity
50
What is duodenal atresia associated with?
Down syndrome
51
What are some clinical features of children with Down Syndrome?
Hypotonia, brushfield spots (increased pigmentation) in the iris, delayed motor milestones, small ears and upslanted palpebral fissures.
Other features include round face, flat occiput, epicanthic folds, protruding tongue, short stature and learning disabilities
52
What is a common complication of juvenille idiopathic arthritis?
Chronic anterior uveitis is seen in up to 1/3 of children with JIA
53
What are some recognised complications of chickenpox?
Bacterial superinfection, cerebellitis, DIC, progressive diseminated disease
54
What are the clinical features of Fragile X syndrome?
learning difficulties, large ears, long thin face, high-arched palate,
marcroorchidism, autism, ADHD hypotonia, mitral valve prolapse
55
What are the clinical features of Prader-Willi Syndrome?
hypotonia, faltering growth, developmental delay, learning difficulties, facies-almond shaped eyes, narrow bridge of nose, narrowing of forehead at temples, thin upper lip.
56
What are the clinical features of Noonan syndrome?
mild learning difficulties, short webbed neck, pectus excavatum, short stature,
congenital heart disease, facies- broad forehead, drooping eyelids, wide distance between eyes
57
What are the clinical features of Williams syndrome?
short stature, congenital heart disease, mild-moderate learning difficulties,
facies- broad forehead, short nose, full cheeks, wide mouth.
58
What are the clinical features of dermatitis herpetiformis?
Itchy, bullous, rash affecting the extensor surfaces (usually) which arise on reddened skin, lesions grow in a centrifugal pattern
59
What are the clinical features of Impetigo?
small pustules that develop a honey-coloured crusted plaques, usually on face, no
surrounding erythema, often not itchy.
60
What are some risk factors for developmental dysplasia of the hip?
Female sex: 6 times greater risk
Breech position
Positive family history
Firstborn children
Oligohydramnios
Birth weight >5kg
Congenital calcaneovalgus foot deformity
61
Which infants require a routine ultrasound examination for DDH?
- First-degree family history of hip problems in early life
- Breech presentation at or after 36 weeks gestation, irrespective of presentation at birth or mode of delivery
- Multiple pregnancy
62
What is the management of developmental dysplasia of the hip?
- Most unstable hips will spontaneously stabilise by 3-6 weeks of age
- Pavlik harness (dynamic flexion-abduction orthosis) in children younger than 4-5 months
- Older children may require surgery
63
What is the surgical management of testicular torsion?
treatment is with urgent surgical exploration
if a torted testis is identified then both testis should be fixed as the condition of bell clapper testis is often bilateral.
64
What is Ebstein's anomaly?
Caused by the use of lithium in pregnancy. It occurs when the posterior leaflets of the tricuspid valve are displaced anteriorly towards the apex of the right ventricle.
65
What is a septic screen?
A septic screen is a set of tests and investigations looking for indications of sepsis or infection.
66
What is the Sepsis Six?
Give high flow oxygen
Obtain IV/IO access and take blood tests
Blood gas and lactate (+/- FBC, U&E, CRP if able)
Blood glucose – treat hypoglycaemia (2mls/kg 10% glucose)
Blood cultures
Give IV/IO Antibiotics (dependant on local guidelines)
Consider fluid resuscitation and Monitor urine output
Involve senior clinicians early
Consider inotropic support
67
What is the most likely pathogen of gram- negative diplococci meningitis?
Neisseria Meningitidies
68
What is the cause of purpura in meningococcal septicaemia?
Rash indicates the infection has caused disseminated intravascular coagulopathy and subcutaneous haemorrhages.
The bacteria produce toxins which travel around the body and cause damage to the blood vessels and organs. As the blood vessels become damaged blood leaks into the surrounding tissue.
69
What is a close contact of meningitis defined as?
Risk is highest for people that have had close prolonged contact within the 7 days prior to the onset of the illness
70
What investigations would you do for JIA?
FBC, ESR, CRP, ANA and RF
71
What initial treatment options would you use in JIA?
NSAIDs such as ibuprofen.
Steroids
72
What is the treatment for Kawasaki Disease?
IV Ig
High dose aspirin
73
What blood tests should you do for new diagnosis T1DM?
Baseline bloods (FBC, U&E and a formal lab glucose)
HbA1C
TFT and TPO
Anti-TTG
Insulin antibodies, anti GAD antibodies and islet cell antibodies
74
What are the most common causes of catastrophic illness in a neonate?
Sepsis
Ductal dependent congenital heart disease
Metabolic disturbance
75
What is stridor?
Monophonic, low pitched, turbulent sound that can occur during inspiration or expiration
76
Which patients might receive palivizumab?
Should be used by those at high risk of severe RSV disease
Those with bronchopulmonary dysplasia due to prematurity or chronic lung disease
Those at high risk due to congenital heart disease
Those at high risk due to severe combined immunodeficiency syndrome
77
What conditions are picked up on newborn screening test?
CF
Sickle cell disease
Congenital hypothyroidism
Inherited metabolic disease
Severe combined immunodeficiency
78
What type of laxative should you avoid in children?
Stimulant eg Senna
79
What are the diagnostic criteria for minimal change disease?
1. Massive proteinuria (3+/4+ on dipstick or urine protein/creatinine ratio >200mg/mmol)
2. Hypoalbuminemia (<20g/l)
3. Oedema
80
When does the moro reflex begin to disappear?
Begins to disappear at 12 weeks with complete disappearance by 6 months
81
What features would you see on examination for a child with osteogenesis imperfecta?
Hypermobility, Blue sclera, triangular face, short stature
82
What are the complications of nephrotic syndrome?
Hypercholesterolaemia, Thrombosis, risk of infection, hypovolaemia.
83
What is the prognosis of children with nephrotic syndrome?
1/3 with steroid-sensitive nephrotic syndrome experience frequent relapses, 1/3 experience infrequent relapses and 1/3 experiences no relapses at all
84
What is the most common nephrotic syndrome in children?
Minimal change disease
85
What surgery may be on offer in severe GORD?
Nissen Fundoplication
86
What clinical signs would you see in acute otitis media?
Red, bulging and tender tympanic membrane
87
What sign would you see in otitis media with effusion?
You would see a grey tympanic membrane, loss of cone reflex, visible fluid level behind the tympanic membrane.
88
What is a naevus flammeus caused by and what is another name for this condition?
=Port-wine stain
Caused by a vascular malformation of the capillaries in the dermis
89
How do you diagnose Hirschprung's disease?
Suction rectal biopsy
90
Name some complications of GORD?
Recurrent pulmonary aspiration and Sandifer syndrome
91
What is the first line treatment for a patient under 2 years of age with bilateral acute otitis media?
5 day course of amoxicillin
Clarithromycin is a second line antibiotic if patient is allergic to penicillin
92
If a rectal biopsy shows absence of ganglion cells in the mesenteric plexus what condition does this indicate?
Hirschsprung's disease
93
What is the name of the procedure used to treat Hirschsprung's disease?
Swenson procedure. This removes the section of affected bowel and anastomoses the remaining sections of bowel together.
94
What murmur would you hear with ventricular septal defects?
Pansystolic murder heard loudest at the lower left sternal edge
95
What murmur would you hear with patent ductus arteriosus?
Continuous machinery murmur typically heard at the upper-left sternal border
96
What murmur would you hear with atrial septal defects?
Ejection systolic murmur heard loudest at the upper-left sternal border
97
What is the surgical procedure used to treat volvulus?
Ladd's procedure
98
What is the name of the procedure used to manage cases of biliary atresia?
Kasai procedure
99
What is the inheritance of achondroplasia?
It is an autosomal dominant disorder associated with short stature. In most cases (70%) it occurs as a sporadic mutation.
100
What are the clinical features of achondroplasia?
- Short limbs (rhizomelia) with shortened fingers (brachydactyly)
- Large head with frontal bossing and narrow foramen magnum
- Midface hypoplasia with a flattened nasal bridge
- 'Trident' hands
- Lumbar lordosis
101
In an infant (under 1 year) what pulses would you check in BLS?
Carotid and femoral pulse
102
How long do you wait in stable umbilical hernias in children?
Usually no treatment is required as they typically resolve by 3 years of age. If not they are usually managed ages 4-5 with an elective outpatient surgical repair.
103
At what centile for height should children be reviewed by a paediatrician?
Below 0.4th centile
104
What is the management for mild/moderate seborrhoeic dermatitis?
Baby shampoo and baby oils
105
If a child's asthma is not completely managed by SABA+ low dose ICS what do you do next?
Add in Leukotriene receptor antagonist (LTRA)
106
What is the most common cause of ambiguous genitalia in newborns?
Congenital adrenal hyperplasia
107
What are some features suggestive of hypernatraemic dehydration?
- Jittery movements
- Increased muscle tone
- Hyperreflexia
- Convulsions
- Drowsiness or coma
108
What is the most common cause of death in Measles?
Pneumonia
109
What is the investigation of choice for reflux nephropathy?
Micturating cystography
A DMSA scan may also be performed to look for renal scarring
110
What is Gastroschisis?
A congenital defect in the anterior abdominal wall just lateral to the umbilical cord
111
What is the management for gastroschisis?
- Vaginal delivery may be attempted
- Newborns should go to theatre as soon as possible after delivery e.g. within 4 hours
112
What is exomphalos?
The abdominal contents protrude through the anterior abdominal wall but are covered in an amniotic sac formed by amniotic membrane and peritoneum
113
What is the management for exomphalos?
- Caesarean section is indicated to reduce the risk of sac rupture
- A staged repair may be undertaken as primary closure may be difficult due to lack of space/high intra-abdominal pressure
114
What the most common example of a Robertsonian translocation?
Down syndrome
115
What is DiGeorge syndrome a deletion of and what signs should this result in?
Due to deletion at 22q11
Widely varying clinical effects resulting in congenital defects typically cleft lip and palate, congenital heart problems and sometimes also learning difficulties. There may also be a weakened immune response
116
What is William's Syndrome a deletion of and what clinical features do you get?
7q11
May result in learning difficulties, although individuals are often cheerful and very friendly, especially to strangers. May have abnormal facial appearance
117
What is Cri du chat syndrome a deletion of and what are the clinical features?>
5p
118
What are the resuscitation fluids used in DKA?
Initial 20ml/kg of 0.9% sodium chloride as a bolus (given over 15mins)
119
What changes occur to the fetal circulation within minutes of birth?
- Constriction of the umbilical vessels
- Constriction of the ductus venosus
- Constriction of the ductus arteriosus
- Closure of the foramen ovale
120
What changes occur to the fetal circulation within minutes of birth?
- Constriction of the umbilical vessels
- Constriction of the ductus venosus
- Constriction of the ductus arteriosus
- Closure of the foramen ovale
121
What is the most common cause of pulmonary hypoplasia?
Congenital diaphragmatic hernia
122
When can a child with scarlet fever return to school?
24 hours after commencing antibiotics
123
What does minimal change look like on histology?
Minimal or no histological changes on biopsy
124
What is the most common small vessel vasculitis?
Henoch-Schonlein Purpura which most commonly affects children aged 3-5 years old
125
What is the management of HSP?
-NSAIDs for analgesia and their anti-inflammatory effect
-Antihypertensives may be needed to control blood pressure
-After an episode of HSP, children should have regular urine dips for 12 months to check for renal impairment.
126
What is the management of HSP?
-NSAIDs for analgesia and their anti-inflammatory effect
-Antihypertensives may be needed to control blood pressure
-After an episode of HSP, children should have regular urine dips for 12 months to check for renal impairment.
127
What do you use for tonsillitis if allergic to penicillin?
Erythromycin or clarithromycin
128
What is the pathogen responsible for roseola?
Human herpes virus 6
129
What is the management of roseola?
Supportive
130
How does Ewing's sarcoma present?
It most commonly affects teenages and young adults with the pelvis, thigh bone and shin bone being the most commonly affected areas.
- Bone pain particularly occuring at night
- A mass or swelling
- Restricted movement in a joint
131
How many episodes in a year of tonsillitis do you need to have for tonsillectomy?
Seven or more in a year,
Five or more/year in two years
Three or more episodes/year in three years
132
What happens in a vaso-occlusive crises?
These are a common, painful complication of sickle cell disease.
The sickled red blood cells clump together and occlude vessels, resulting in ischaemia of downstream tissues.
133
What is the Potter sequence?
Potter's sequence describes the typical physical appearance caused by pressure in utero due to oligohydramnios. When it is a result of bilateral renal agenesis, it it called potter syndrome
134
What are the facial signs of Potter syndrome?
- Flattened 'parrot-beaked' nose
- Recessed chin
- Downward epicanthal folds
- Low-set, cartilage-deficient eats (known as Potter's ears)
135
What do you do if you find an intermittent squint at the NIPE?
Refer in still present at 8 weeks of life
136
What is the Paul Bunnell test used for?
It is positive in EBV infection
137
What does the Guthrie test screen for?
- Hypothyroidism
- Phenylketonuria
- Galactosaemia
- Maple syrup urine disease
- Homocystinuria
138
What is the second line treatment for ADHD in school aged children?
Lisdexamfetamine
139
What are the DSM-V 6 criteria for ADHD?
- Five or more symptoms of inattention and/or ≥5 symptoms of hyperactivity/impulsivity must have persisted for ≥6 months to a degree that is inconsistent with the developmental level and negatively impacts social and academic/occupational activities.
- Several symptoms (inattentive or hyperactive/impulsive) were present before the age of 12 years.
- Several symptoms (inattentive or hyperactive/impulsive) must be present in ≥2 settings (eg, at home, school, or work; with friends or relatives; in other activities).
- There is clear evidence that the symptoms interfere with or reduce the quality of social, academic, or occupational functioning.
- Symptoms do not occur exclusively during the course of schizophrenia or another psychotic disorder, and are not better explained by another mental disorder (eg, mood disorder, anxiety disorder, dissociative disorder, personality disorder, substance intoxication, or withdrawal).
140
What is the first line treatment for VIW?
Inhaled Salbutamol
141
What are the common signs and symptoms for NEC?
- Abdominal distension
- Vomiting
- Visible intestine loops lacking peristalsis
- Rectal bleeding
- Lethargy
- Feeding intolerance
142
What would you see on X-Ray for NEC?
- Dilated bowel loops
- Bowel wall oedema
- Pneumotitis Intestinalis
143
What congenital heart defect may be seen in William's Syndrome?
Supravalvular aortic stenosis
144
What is the treatment for a SEVERE exacerbation of asthma?
High flow O2 (if SpO2<94%) Corticosteroids, Nebulised salbutamol and nebulised ipratropium
145
What are the features of the rash seen in meningococcal septicaemia?
Non-blanching purpuric flat rash.
It may start anywhere on the body
146
What are the clinical features of intusussception?
- Paroxysmal episodes of colicky abdominal pain
- Features of intestinal obstruction
- As it is causing obstruction there is distension of the abdomen
147
What is Scarlet fever caused by?
Group A Streptococci
Usually Streptococcus pyogenes
148
What are some of the features of growing pains?
- Never present at the start of the day after the child has woken
- No limp or limitation of physical activity
- Systemically well
- Normal physical examination
- Motor milestones normal
- Symptoms are often intermittent and worse after a day of vigorous activity
149
What is the stepwise pathway for Asthmatic children under 5 years of age?
1) SABA
2) SABA + 8 week trial of paediatric moderate dose ICS (if symptoms resolve change to low dose ICS)
3) SABA + paediatric low-dose ICS + Leukotriene receptor antagonist (LTRA)
4) Stop the LTRA and refer to a paediatric asthma specialist
150
What is the paediatric low dose of ICS?
<= 200 microgrames or budesonide or equivalent
151
What is the paediatric moderate dose of ICS?
200-400 micrograms budesonide or equivalent
152
What is the paediatric high dose of ICS?
> 400 micrograms budesonide or equivalent
153
What is the paediatric high dose of ICS?
> 400 micrograms budesonide or equivalent
154
What is the defect caused in Ebstein's anomaly?
- Tricuspid regurgitation (pan-systolic murmur)
- Tricuspid stenosis (mid-diastolic murmur)
- Also enlargement of the right atrium
155
If there is bilateral testes enlargement in precocious puberty what might this indicate as a cause?
Gonadotrophin release from intracranial lesion
156
If there is unilateral testes enlargement in precocious puberty what might this indicate as a cause?
Gonadal tumour
157
If there are small testes in precocious puberty what might this indicate as a cause?
Adrenal cause either a tumour or adrenal hyperplasia
158
What figure of blood glucose is commonly used for neonatal hypoglycaemia?
<2.6mmol/L§
159
What may persistent/severe hypoglycaemia be caused by?
- preterm birth (< 37 weeks)
- maternal diabetes mellitus
- IUGR
- hypothermia
- neonatal sepsis
- inborn errors of metabolism
- nesidioblastosis
- Beckwith-Wiedemann syndrome
160
What are the autonomic features of neonatal hypoglycaemia?
'Jitteriness", Irritable, tachypnoea, pallor
161
What are the neuroglycopenic features of neonatal hypoglycaemia?
Poor feeding/sucking, weak cry, drowsy, hypotonia, seizures
162
If neonatal hypoglycaemia is asymptomatic how do you manage this?
Encourage normal feeding (either bottle or breast)
Monitor blood glucose
163
If neonatal hypoglycaemia is symptomatic or very low blood glucose how do you manage this?
Admit to the neonatal unit
Intravenous infusion of 10% dextrose
164
What is the definitive management of a slipped capital femoral epiphysis?
Refer to orthopaedics for in situ fixation with a cannulated screw
165
What is the most common cause of pulmonary hypoplasia?
Congenital diaphragmatic hernia
166
What are some risk factors for atopic eczema?
Food allergies. Asthma. FH of atopic diseases
167
How does a varicocele usually present?
Usually asymptomatic but some patients may present with a dull aches.
168
What is a varicocele?
It is a scrotal swelling which occurs due to dilated testicular veins. They occur in 15% of boys usually around puberty and in the left testicle.
169
What are some risk factors for Cerebral Palsy?
Low birth weight, Birth complications (placental abruption etc), Maternal infections, maternal thyroid dysfunction, prematurity.
170
How does maternal infection increase risk of cerebral palsy?
Results in cytokine release which can cause inflammation and damage of the brain.
171
What do you do with a child with croup who does not respond to oral dexamethasone?
Inhaled oxygen and nebulised adrenaline
172
What are the four key drivers for failure to thrive?
1) Inadequate intake
2) Inadequate retention
3) Malabsorption - Such as coeliac disease
4) Increased requirements
173
Where are foreign objects most likely to be found if aspirated?
Right main bronchus
174
What would a child with ASD present like?
Avoids eye contact, change to regime causes stress and stereotypical repetitive movements
175
What drugs do you give for bacterial meningitis in a 4-month old?
IV Ceftriaxone and dexamethasone
176
What drugs do you give for bacterial meningitis in a 3 month old?
IV Cefotaxime and Amoxicillin
177
What is the first line choice of antibiotic for suspected early-onset infection in a neonate?
Use intravenous benzylpenicillin with gentamicin
Benzylpenicillin (dosage of 25mg/kg every 12 hours)
Gentamicin (5mg/kg every 36 hours)
178
If babies have a positive blood culture, how long should you give antibiotics for in neonatal early onset infection?
7 days
179
What are the major causes of non-billious vomiting in infants?
- Pyloric stenosis
- GORD
- Infection (especially UTI and gastroenteritis)
180
What is the first-line investigation for pyloric stenosis?
Ultrasound scan if a mass is not clinically palpable which is around 99% sensitive and specific.
Upper GI contrast XR is an alternative
181
Examples of autosomal dominant inherited conditions?
- Polycystic kidney disease
- Familial hypercholesterolaemia
- Marfan's Syndrome
- Huntington's disease
- BRCA1/BRCA2
182
Examples of autosomal recessive conditions?
- Phenylketonuria
- Haemochromatosis
- Spinal muscular atrophy
- Non-syndromic sensorineural deafness
183
Examples of X-Linked conditions?
- Duchenne and Becker Muscular dystrophy
- Haemophilia
- Fragile X syndrome
- Retinitis Pigmentosa
- Ocular Albinism
184
Examples of mitochondrial disorders?
- MELAS: Mitochondrial encephalopathy, lactic acidosis, stroke like episodes
- MERRF: Myoclonic epilepsy, ragged red fibres
- Mitochondrially inherited DM and deafness
- Leber's hereditary optic atrophy
185
Examples of genomic imprinting?
Prader-Willi Syndrome (caused by deletion of paternally inherited chromosome 15 or maternal uniparental disomy)
Angelman's syndrome
(caused by a deletion in the maternally inherited chromosome 15 or paternal uniparental disomy)
186
Till what age should children be measured lying down?
2 years of age
187
When is Newborn blood spot screening test repeated?
In babies <32 weeks the sample is repeated at day 28 of life. The test should be carried out between day 5 and 8 regardless of medical condition, milk feeding and prematurity.
188
When can regular cow's milk be introduced into a child's diet?
Regular cow's milk should not be introduced before the age of 12 months as it can cause microscopic bleeding leading to iron deficiency.
189
What is the pathophysiology in bronchiolitis?
- Proliferation of goblet cells causing excess mucus production
- IgE reaction causing inflammation
- Bronchial and bronchiolar constriction - Submucosal oedema
190
What drug can be given for severe cases of bronchiolitis?
Ribavirin
191
What is the pathophysiology of Asthma?
Driven by Th2 T cells, allergens arrive at the airway in dendritic cells and cause an exaggerated immune response
- Increased mast cells and eosinophils
- Bronchoconstriction and exudate release
192
What is Congenital adrenal hyperplasia a deficiency of?
21-Hydroxylase
193
What is the Gold standard test for congenital adrenal hyperplasia?
Raised serum 17a-hydroxyprogesterone
194
When are babies born to HIV positive mothers tested?
HIV viral load test at 3 months
HIV antibody test at 24 months
195
What is the inheritance of Von Willebrand's disease and where is the mutation?
Autosomal dominant condition due to mutation of the vWF gene
Deficiency of vWF --> Defective platelet plug
196
What is the management for Von Willebrand's disease?
Desmopressin
Severe = Plasma derived FVIII concentrate
197
What is the pathophysiology of Sickle Cell anaemia?
It is a point mutation of the B-Globin gene --> Valine swapped for glutamine
198
What is a craniopharyngioma?
A developmental tumour arising from the squamous remnant of Rathke pouch
199
What is the karyotype of Klinefelter syndrome?
47, XXY
200
What is the Sillence classification of osteogenesis imperfecta?
● I – mildest
○ Autosomal dominant
○ Blue sclera
○ Presents at preschool age. Hearing deficit in 50%
● II – lethal
○ Autosomal recessive
○ Blue sclera
● III – most severe survivable form
○ Autosomal recessive
○ Normal sclera
○ Fractures at birth, progressively short stature
● IV – moderate severity
○ Autosomal dominant
○ Normal sclera
○ Bowing bones and vertebral fractures, normal hearing.
201
What is the commonest cause of AKI in children?
Haemolytic uraemic syndrome
202
What is osteomyelitis commonly due to ?
Staph Aureus
203
What does RDS look like on CXR?
Ground glass appearance
