Paediatrics Flashcards
1
Q
80% of CF cases in UK are due to what
A
Mutation in delta508 on long arm of chr7
2
Q
What organisms can colonise CF patients?
A
Staphylococcus aureus
Pseudomonas aeruginosa
Burkholderia cepacia
Aspergillus
3
Q
What is the site of origin of stridor?
A
Extrathoracic
4
Q
What is the site of origin of wheeze?
A
Intrathoracic
5
Q
Stridor
A
Predominantly inspiratory - indicates obstruction to airflow in the extrathoracic airways down to the level of the thoracic inlet
6
Q
What do you do if a case of whooping cough is suspected?
A
Prescribe oral azithromycin within first 21 days of symptoms and inform public health England
7
Q
Complications of bordatella pertussis
A
subconjunctival haemorrhage
pneumonia
bronchiectasis
seizures
8
Q
Mx for GOR
A
- 30 degree position during feeds
- Infant sleep on back
- Small and mode frequent feeds, ensure no overfeeding
- Trial of thickened formula OR trial of alginate eg gaviscon
- Trial of PPI or H2RA if refusal of feeds, faltering growth or distressed behaviour
- Metoclopromide in specialist care
9
Q
Side effects of anti-epileptics Valproate Lamotrigine Vigabatrin Levetiracetam Carbamazepine
A
Valproate - weight gain, hair loss, rarely liver failure
Lamotrigine - rash
Vigabatrin - restriction of visual fields, sedation, behavioural disturbance
Levetiracetam - anorexia
Carbamazepine - visual disturbance
10
Q
A 10-year-old boy is brought to the paediatric outpatient department for a review of his height. He was found to be on the 0.4th centile and his mid-parental height is the 98th centile. He also has widely spaced nipples, wide carrying angle, hypogonadism, pulmonary stenosis and developmental delay. What is the most likely diagnosis?
A
Noonans syndrome
11
Q
Gain of function mutation in MAPK pathway (PTPN11) causes which condition
A
Noonan’s syndrome
12
Q
What problem with the arms is seen in 50% of Noonan’s syndrome patients?
A
Cubitus valgus
13
Q
Turners syndrome is associated with an increased likelihood of which GI condition
A
Coeliac disease
14
Q
Cardiac associations with DS
A
AVSD, ventricular septal defect, tetralogy of fallot
15
Q
GI associations with DS
A
Duodenal atresia, Hirschprung’s disease
16
Q
Endocrine associations with DS
A
Hypothyroidism, Addison’s disease, T1DM
17
Q
Ocular problems associated with DS
A
Cataracts
18
Q
Malignancy associated with DS
A
Leukaemia
19
Q
Musculoskeletal problems associated with DS
A
Atlanto-axial instability
20
Q
What are DS patients at risk of later in life
A
Dementia
21
Q
Treatment of status epilepticus
A
IV Phenytoin
22
Q
Treatment for seizures in the community lasting more than 5mins
A
Buccal midazolam
23
Q
How to treat febrile seizures?
A
If meningitis is excluded (need to ensure if first febrile convulsion under 12mths), then likely to be viral, so dress the child lightly and give regular anti-pyretics.
24
Q
Diagnostic for absence epilepsy on EEG
A
Three spike waves per second in all leads
25
Presentation of temporal epilepsy
Warning aura or sensation, impaired conciousness or unresponsiveness and a focal seizure which may spread to become generalised tonic clonic
26
Presentation of Wolff-Parkinson white syndrome
Spontaneous onset re-entry tachycardia or SVT which may lead to dizziness, SOB and sometimes fainting. (ECG shows delta wave).
27
Presentation of MILD hypoxic ischaemic injury in a neonate
Irritability, startle responses, poor feeding, hyperventilation
28
Presentation of MODERATE hypoxic ischaemic injury in a neonate
Features of mild +++ altered tone or reduced movement and seizure activity
29
Hypoglycaemia in a neonate - range?
<2.5mmol/L
30
Multiple sclerosis presentation
Neurology consistent with multiple lesions eg arm/leg weakness (but can switch sides), diplopia, urinary incontinence, nerve palsy.
31
MRI findings - multiple sclerosis
multiple, hyperintense, inflammatory, white matter lesions
32
MRI findings - tuberous sclerosis
Subependymal calcifications and hypointense white matter lesions or tubers
33
Parvolex =
NAC
34
Slow-relaxing reflexes may be a sign of
systemic illness eg hypothyroidism or LMN diseases eg GBS
35
Features of UMN lesions
Increased reflexes
Increased tone
Upgoing plantars
Decreased power
36
Signs of raised ICP
Headache
Morning vomiting
Sunsetting eyes (pressure on CNIII, IV and VI)
Papilloedema
37
Which syndrome is Carbamazepine associated with?
SLE
38
Hypsarrthymia on EEG
chaotic and disorganized brain electrical activity with no recognizable pattern, associated with infantile spasms, west syndrome, tuberous sclerosis
39
Triad of West's syndrome
Hypsarrthymia on EEG
Infantile spasms
Developmental plateau/difficulties
40
Any baby born with a port wine stain in trigeminal region or hair should have?
MRI brain to look for intracranial hemangiomas - they are at risk of epilepsy
41
Management of headache
Rescue eg
Analgesia (paracetamol and NSAIDs)
Antiemetics (prochlorperazine)
Triptans (nasal preparation available for children)
Physical treatments (e.g. cold compress, warm pads, topical forehead balms)
```
Prophylactic eg
Sodium channel blockers (topiramate, valproate)
Beta-blockers (propranolol)
Tricyclics (pizotifen)
Acupuncture
```
Psychosocial Support eg identify stressors and relaxation technique
42
Treatment of a seizure
If lasts >5mins rectal diazepam or buccal midazolam
| - can repeat rectal diazepam once after 5mins if seizure hasn't stopped
43
Carbamazepine can make which type of seizures work
Myoclonic and absence
44
Features of cerebellar disease
```
Dysdiadochokinesia
Dysmetria
Difficulty holding posture
Wide-based gait
Ataxic
```
45
Features of damage to basal ganglia
Difficulty in initiating movement with fluctuating tone
Dystonia or dyskinesia
Chorea
Athetosis
46
Encephalomyelitis
Acute inflammation of spinal cord and brain
47
Gower’s sign
Seen in children with myopathies, need to turn prone to rise from supine position and use legs to push self up
48
What is ophthalmoplegia?
Paralysis or weakness of eye muscles eg seen in myasthenia gravis
49
Abx used fo treatment of bacterial meningitis (normal, allergy to penicillin, anaphylaxis to penicillin)
Ceftriaxone
Allergy -> cefotaxime
Anaphylaxis -> chloramphenicol
50
What is spinal muscular atrophy caused by?
Mutations in the survival motor neurone (SMN1) gene
51
CMT1A mutations account for 70-80% of which type of disease?
Charcot Marie Tooth disease
| = symmetrical, slowly progressive distal muscular wasting
52
Type 1 spinal atrophy is also called
Werdnig-Hoffman disease. AR inheritance. Progressive weakening and wasting of skeletal muscles. Likely to die from resp failure within 12mths.
53
Charcot Marie tooth disease is?
Symmetrical, progressive distal muscular wasting. Caused by mutations in myelin genes.
54
What is dysautonomia and what condition is it associated with?
Malfunction of autonomic nervous system associated with GBS, includes:
- Hypotension, HTN
- Bradycardia, Tachycardia
- Urinary retention
- Ileus
- Loss of sweating
55
How is GBS managed?
Supportive, may need resp support. IVIG or plasma exchange.
56
What infections is Bell's palsy associated with?
HSV or Lyme disease
57
Why do you need to exclude HTN in paeds Bell's palsy cases?
Association with renal failure and coarctation of aorta
58
How does myasthenia gravis present?
Ptosis, Ophthalmoplegia, loss of facial expression, difficulty chewing, generalised (esp. proximal) weakness
59
How does myaesthenia gravis present?
Ptosis, Ophthalmoplegia, loss of facial expression, difficulty chewing, generalised (esp. proximal) weakness
60
What is the tensilon test and for what condition would you do it?
Give IV edrophonium bromide to improve symptoms in myasthenia gravis
61
Management of myasthenia gravis
1. Pyridostigmine, neostigmine (cholinesterase inhibitors)
2. Immunosuppressive therapy
3. Immune-modulating drugs eg prednisolone, azathioprine, mycophenolate mofetil, biologics
4. Thymectomy is indicated if thymoma is present
5. Plasma exchange may be used for crises
62
Heliotrope rash is associated with which condition
Dermatomyositis
63
Presentation of dermatomyositis
Fever + Misery + symmetrical muscle weakness + heliotrope rash (likely to have high creatinine kinase)
64
Management of dermatomyositis
Physiotherapy to prevent contractures
Steroids (2yrs)
Immunosuppressants eg methotrexate, ciclosporin
Risk of cancer
65
Myotonia
Delayed muscle relaxation after sustained muscle contraction
66
Condition caused by triple nucleotide expansion of CTG in DMPK gene
Dystrophia Myotonica type I
| AD inheritance
67
Why might death occur in dystrophia myotonica type I?
Cardiac conduction defects
68
How might dystrophia myotonica type I present?
Hypotonia, feeding/resp difficulties, talipes, oligohydramnios, thin ribs, reduced foetal movements
69
Miller fisher syndrome
A rare, acquired nerve disease characterised by abnormal muscle coordination, paralysis of the eye muscles and absence of the tendon reflexes. Variant of GBS.
70
A triplet repeat in FXN gene causes a lack of what protein and subsequently what disease?
Frataxin protein, Friedreich ataxia
71
Presentation of Friedreich ataxia
o Worsening ataxia and dysarthria
o Distal wasting in the lower limbs
o Absent reflexis
o Pes cavus
o Impairment of joint position and vibration sense (posterior columns affected)
o Extensor plantars (pyramidal involvement)
o Optic atrophy
o Cerebellar component becomes more apparent with age
72
Volume of males testes by puberty
Around 4ml
73
Volume of adult male testes
12.5-19ml
74
Constitutional delay in puberty
Much more common in males. Isolated finding of delay in skeletal growth ie height. May see delayed puberty and growth spurt. Typically seen around puberty.
75
Constitutional delay in puberty
Much more common in males. Isolated finding of delay in skeletal growth ie height.
76
Typical presentation of muscular dystrophy in young child
Clumsy and walk with waddling gait. May cry when standing for long periods of time.
77
What age is a child who builds a tower of 6 blocks, feeds themselves with a spoon and starts to potty train?
18 months
78
What age is a child who feeds themselves with a spoon and starts to potty train?
18 months
79
A child walking unsteadily with 2-3 words is likely to be how old?
12 months
80
A child who scribbles and walks well is likely to be how old?
15 months
81
How old is a child who can build a tower of 8 blocks?
2.5 years
82
Wasted buttocks is a classic sign of which disease in a child?
Coeliac
83
Most common cause of CAH
21-hydroxylase deficiency
84
How can CAH present?
May present with ambiguous genitalia or bilateral undescended testicles. Kids are at risk of a salt-losing adrenal crisis (vomiting, weight loss, floppy unwell infant), typically around 1–3 weeks of age.
85
Presentation of Kleinfelter's
XXY, tall stature, delayed puberty, mild learning difficulties
86
Normal time taken for testes to descend
3 months, most by 6months. Worried after 9months.
87
Obesity
May present with weight AND height above average. May see gynaecomastia with obesity.
88
How to predict height of child? (Predicts adult height of the child ± two standard deviations)
Mean parental height +7cm for boys, -7cm for girls.
89
Recurrent coughs and colds in a child who has speech delay might suggest?
Hearing difficulties eg glue ear
90
How to manage meningococcal septicaemia?
High flow O2 and IV ceftriaxone. Check for dehydration (eg CR time, dry mucous memranes etc) as patient most likely needs IV fluid bolus.
91
Definition of shock
Inadequate perfusion of tissues which is insufficient to meet cellular metabolic needs
92
Why is IM adrenaline given in anaphylaxis?
To prevent the capillary leak of fluid into airway tissues (Otherwise oedema closes the airway off)
93
What is distributive shock?
Rapid shifts in fluid to the interstitium result in intravascular hypovolaemia
94
How does hypovolaemic shock present?
Cold, pale and poorly perfused patient. (usually caused by haemorrhage or dehydration).
95
What is obstructive shock caused by?
Blockage of blood flow from the heart eg cardiac tamponade, fluid in pericardial sac compressing the heart or tension pneumothorax.
96
Paediatric BLS guidelines for CPR
Two inflation breaths per 15 chest compressions. If the child is intubated: continuous inflation breaths about 10-12 per minute and compressions 100-120 per minute
97
Management of status epilepticus
IV phenytoin (don't give more than two doses of barbituates due to respiratory depression risk). If child's epilepsy is managed with phenytoin then give IV phenobarbital instead.
98
Presentation of iron overdose
Two phase illness: 1) early vomiting and diarrhoea due to gastric irritation, may present with haematemesis or malaena. Then period of 24hrs improvement. 2) Then deterioration with liver failure, drowsiness and coma. Liver failure can produce hypoglycaemia and seizures.
99
Presentation of paracetamol overdose
Gastric irritation, Hx child took tablets, Liver failure on day 3-5
100
TCA overdose presentation
Tachycardia, Anticholinergic symptoms (dry mouth, blurred vision, agitation). Shock with seizures or coma. Severe metabolic acidosis (indication for giving IV bicarbonate).
101
Anaphylaxis management
IM adrenaline
- call anaesthetist to open airway
- salbutamol nebs
- IV access to give hydrocortisone and antihistamine
When discharging be aware of possible Type IV hypersensitivity, so send home with two further doses of prednisolone over next 2 days to cover this.
102
Presentation of biliary atresia
Prolonged jaundice in neonate, acholic stools, dark urine
103
Biliary atresia increases the risk of
Liver cirrhosis
104
How can GBS manifest itself?
Sepsis, pneumonia, meningitis, urinary tract infection and septic arthritis
105
Most common pathogens in neonate
group B Streptococcus, E. coli and Listeria monocytogenes
106
What is the genetic cause of Prader Willi syndrome?
Imprinting. To get PW syndrome, there is loss of part of paternal chromosome 15.
107
What are examples of two syndromes do microdeletions cause?
DiGeorge's and Williams'
108
Trisomy 13 =
Patau's
109
Trisomy 18 =
Edward's syndrome
110
What defects do glycogen storage disorders present with?
Liver, Muscle and Cardiac
111
Galactosaemia cause
Deficiency in galactose-1-phosphate uridyl transferase
112
Presentation of galactosaemia
Illness with lactose-containing milks (ie could be seen in exclusively formula fed babies), with vomiting, cataracts and recurrent episodes of E Coli sepsis.
113
How can fructose intolerance present?
Metabolic acidosis and vomiting
114
Presentation of phenylketonuria
Developmental delay when child is older and musty smelling urine (not acute illness)
115
Inheritance of Marfan's syndrome
Autosomal dominant, affects fibrillin gene. (Connective tissue disorder affecting musc, ocular and cardiac systems).
116
Hypophosphataemic rickets
X-linked dominant condition, can present with genu varum and short stature
117
Phenylketonuria inheritance
Autosomal recessive
118
Phenylketonuria presentation and cause
Metabolic condition resulting in defect in enzyme phenylalanine hydroxylase. If undetected can present with musty smelling urine, seizures, microcephaly and learning difficulties.
119
What are patients with oculocutaneous albinism at higher risk of?
Defects in melanin production so higher risk of skin malignancy
120
Both DMD and Becker's are due to defects in which gene?
Dystrophin
121
Features of Down Syndrome
Dysmorphic facies eg low set ears, epicanthic folds, protruding tongue, flattened nasal bridge, single palmar crease, sandal gap toes
122
Management of salt losing crisis in CAH
IV dextrose and IV hydrocortisone
123
What is haematochezia?
Passage of fresh blood through anus (usually with stools)
124
What is pneumatosis intestinalis? What is it a sign for?
Gas cysts in the bowel wall. Sign for NEC
125
What are the 3 key radiographical findings for NEC?
- Intestinal dilation
- Portal venous gas
- Pneumatosis intestinalis
126
Pneumonitis - what is it?
Occurs as part of meconium aspiration syndrome - is due to irritation to the lung caused by chemicals in meconium
127
What congenital conditions are associated with cleft palate?
DS or DiGeorge's syndrome
128
VACTERL association?
```
Vertebral
Anal imperforation
Cardiac
Tracheo-oesophageal fistula
Renal and Limb abnormalities
```
129
What is CHARGE syndrome?
```
Colomba
Heart defects
Atresia choanae
Retardation of growth and development
Genitourinary abnormalities
Ear abnormalities syndrome
```
130
What in the history would suggest incoordinated swallowing reflex?
Concern about the neurological or neuromuscular status
131
A term baby is awaiting his discharge check when you are called to see him at 10 hours of age. His mother reports that he has turned a dusky colour and is not
as alert as he has been. On examination he has central cyanosis, pulse 150bpm regular, and both brachial and femoral pulses are palpable. He has normal heart
sounds with no murmur. His oxygen saturations are 65per cent in air. What is the most likely underlying diagnosis?
Transposition of the great arteries
132
What needs to co-exist/occur for compatibility of life with transposition of the great arteries?
A mixing defect eg VSD, ASD, persistent ductus arteriosus. (NB: when managing these patients, give prostaglandin infusion to keep duct open then perform surgery)
133
Complication of gastroschisis
Dehydration, hypothermia, electrolyte losses
134
What are infants of diabetic mothers at risk of?
Congenital malformation eg if glucose control was poor around conception, post-natally hypoglycaemia and macrosomia
135
What is gastroschisis?
Herniation of bowel through a defect in the anterior abdominal wall of the developing foetus (NB: if with membrane then called exomphalos)
136
Causes of asymmetrical IUGR
Placental insufficiency eg late in pregnancy insult like maternal diabetes or preeclampsia
137
Causes of symmetrical IUGR
Chromosomal anomaly
Maternal smoking
Congenital infection
Maternal alcohol use
138
How to manage croup?
Give oral dexamethasone
| If complication eg heart disease, BPD, neuromusc disorders, immunodeficiency etc present then admit to ward
139
Common cause of croup
Parainfluenza virus
140
Causative organism in epiglotittis
Haemophilus influenzae type B
141
Epiglottitis management
Don't touch child, leave with parent, secure airway
142
Pertussis management
Oral azithromycin (doesn't affect course of disease though) + can go back to sch AFTER 48HRS on the abx
143
Pertussis management
Oral azithromycin (doesn't affect course of disease though) + can go back to sch AFTER 48HRS on the abx (or 3wks after symptoms if child doesn't qualify for Abx)
144
What is the centor criteria used for?
To know whether to prescribe Abx in tonsillitis or not. Need score of 3/4/5
145
Jenny, a 3yr old girl, was at a village fete. She suddenly developed swollen cheeks and lips and a widespread urticarial rash. She is rushed to the nearby GP surgery. How do you treat her?
IM adrenaline, 150mcg. (as 150mcg if <6yrs)
If doesn't resolve, repeat after 5mins.
Then do IV fluid challenge, chlorpheniramine and hydrocortisone.
146
What reflex is lost in testicular torsion?
Cremasteric reflex
147
What sign to do with the testes suggests epididymo-orchitis over testicular torsion?
Pain relived on elevation of affected testis
148
Presentation of pyloric stenosis
Projectile vomiting, 1 month year old, more common in males (vomit will be normal milky colour). Child may be lethargic, pass less urine and stool. Child may often be hungry after the vomit.
149
What is there usually a history of in patients who present with NEC at term?
Birth asphyxia or
| Severe growth restriction.
150
What is the pathological process of Coeliac disease?
Villous atrophy of the small intestine
| and corresponding malabsorption and malnutrition
151
Wasting of the buttocks is a sign of
Coeliac disease
152
Kayser–Fleischer and (at least 5) spider naevi are a sign of what disease?
Wilson's disease
153
What is the inheritance of Wilson's disease?
Autosomal recessive
154
What are some red flags for a constipation history?
```
Growth failure
A history of delayed passage of meconium
Distended abdomen with vomiting
Anal pathology
Neurological complications affecting the lower limbs
```
155
Management of chronic constipation (NICE guidelines)
1) maintenance therapy (medical bowel disimpaction with non-stimulant laxatives) with polyethene glycol
++++ encourage pt to increase fluid intake, dietary fibre and exercise
++++ behavioural management eg star charts once stool is softer to help avoid toilet avoidance
Continue medication at maintenance dose for several weeks after regular bowel habit is established – this may take several months
2) Add a stimulant laxative if that doesn't work
156
Swelling in the groin which is associated with a tense abdomen in a vomiting baby?
Incarcerated inguinal hernia (needs urgent surgical management)
157
Abdominal distention + stained nasogastric aspirates in a premature infant =
NEC
158
Treatment of umbilical hernias in paeds
None, they will self resolve
159
A 5-year-old girl is brought to accident and emergency with a 24-hour history of vomiting and diarrhoea and now her eyes and skin have gone very yellow. She has been taking oral rehydration salts and is still passing urine. She is normally healthy and there is no family history of jaundice. On examination her heart rate is 130 and respiratory rate is 26. She is alert, warm and well perfused. The chest is clear, heart sounds are normal
and the abdomen is soft with a 2cm liver edge. What is the diagnosis and what should the management be?
Hepatitis A
- Take bloods to test for liver function, hepatitis and U&Es; inform the Health Protection Agency and discharge home with follow-up to review results
(she is not dehydrated so doesn't need IV fluids and is well enough to go home and not infect other patients)
160
What are some common autoimmune diseases that T1DM patients suffer from?
Coeliac
Graves'
(screen for them yearly)
161
Antibodies in autoimmune hepatitis
ASMA (70%) and ANA (80%)
162
Presentation fo autoimmune hepatitis
Women, aged 10-30, usually presents with chronic liver failure or acute hepatitis
163
Presentation of mesenteric adenitis
Diagnosis of exclusion, may see 1/2 day Hx of vomiting, abdominal pain and fever. Preceding viral illness. ==> Enlarged mesenteric glands on USS
164
Causes of PR bleeding
Constipation with anal fissure
Intussuception
Meckel's diverticulum
Bacterial gastroenteritis
165
Toddler's diarrhoea
Likely due to intestinal immaturity, usually resolves by 5. History should be relatively normal.
166
A younger child with IBD is more likely to have...
Crohn's disease
167
Mouth ulcers are associated with which IBD
Crohn's disease
168
Associations of UC
Erythema nodosum
Pyoderma gangrenosum
Arthritis
Spondylitis
169
Histology finding of Crohn's
Non-caseating granuloma and full thickness lesions.
170
What is choanal atresia?
Congenital blockage of the nasal airway which
| presents with newborn cyanosis and respiratory distress, as infants are obligate nose breathers.
171
Most common cause of non-passing of meconium
Meconium plug syndrome - manage with anal stimulation with glycerine chip
172
Presentation of cow's milk protein intolerance
Worsening eczema, vomiting and diarrhoea, failure to thrive, irritability, colic
173
Hyper IgE syndrome
= Job's syndrome
| AD immunodeficiency associated with severe eczema and skin boils
174
Wiskott–Aldrich syndrome
X-linked recessive disorder associated with thrombocytopenia, eczema and lymphopenia
175
Hypochloraemic metabolic alkalosis with low plasma sodium and potassium
Pyloric stenosis vomiting
176
O/E a olive shaped mass in the RUQ suggests?
Pyloric stenosis
177
What would you see on abdominal USS for pyloric stenosis?
Increase in pyloric muscle thickness, increase in transverse diameter
178
What procedure fixes a pyloric stenosis?
Ramstedt pyloromyotomy (cut made in longitudinal and circular muscles of pylorus)
179
Management of pyloric stenosis
1. IV fluid resuscitation
- Essential to correct the fluid and electrolyte disturbance before surgery
- Provide at 1.5 x maintenance rate with 5% dextrose + 0.45% saline
2. Ramstedt pyloromyotomy
- Cut in longitudinal and circular muscles of the pylorus
180
What is McBurney's point tenderness?
Guarding in the RIF, indicates appendicitis (may be absent if appendix is retrocaecal)
181
Management of appendicitis
1. NBM from time of diagnosis
2. IV fluids should be started
3. Admit
4. Appendicectomy
182
Most common cause of gastroenteritis in developed countries
Rotavirus
183
Most common bacterial cause of gastroenteritis in developed countries
Campylobacter jejuni
184
Prozotoan causes of gastroenteritis
Cryptosporidium
| Giardia
185
Normal presentation of Hirschsprungs
Neonatal period, failure to pass meconium within 24hr, vomiting (bile stained) + abdo distention.
Occasionally can present with severe, life threatening H enterocolitis = usually due to C difficile
If later in life - chronic constipation (and growth failure)
186
Findings on full-thickness rectal biopsy in Hirschsprungs
Absence of ganglion cells + large ACh-esterase (+) nerve trunks
187
Management of Hirschsprungs
Bowel irrigation + anorectal pullthrough
188
Non-caseating epithelioid cell granulomata on histology
Crohn's
189
What is the most common cardiac abnormality in Turner’s syndrome?
Bicuspid aortic valve (aortic stenosis is 2nd)
190
Which IBD does smoking make worse?
Crohn's
191
Treatment for UC
o Colectomy with an ileostomy or ileojejunal pouch
192
What is the MOST COMMON cause of intestinal obstruction in infants after the neonatal period?
Intussusception
193
What is Meckel's diverticulum?
Ileal remnant of the omphalomesenteric duct
194
For what is a Ladd procedure performed?
Intestinal malrotation eg Volvulus etc: involves detorting the bowel and surgically dividing the Ladd bands
195
Acrodermatitis enteropathica
Autosomal recessive metabolic disorder characterised by the malabsorption of Zinc resulting in diarrhoea, inflammatory rash around the mouth +/- anus and hair loss.
196
What are the risks of not adhering to a gluten free diet in Coeliac disease?
1) Micronutrient deficiency, esp osteopaenia
| 2) Bowel cancer, especially small bowel lymphoma
197
What type of malignancy are patients with Coeliac disease at risk of?
Small bowel lymphoma
198
What products are removed from the diet in Coeliac disease?
Wheat, Barley, Rye
199
What is the Marsh criteria used for?
Grading of small intestine tissue histologically in Coeliac
200
What are inguinal hernias usually caused by?
A persistent processus vaginalis
201
What is the difference between an obstructed vs a strangulated hernia?
Both are irreducible, but the blood supply is compromised in strangulated hernias vs not compromised in obstructed hernias
202
Treatment of umbilical hernias
If <1.5cm then most spontaneously resolve (80%), if not then after 4-5years surgical repair due to incarceration risk
If >1.5cm then unlikely to spontaneously repair --> elective repair at 2-3years
203
What are some signs of hepatic dysfunction?
```
§ Coagulopathy(PT>20s) not correctable with vitamin K
§ Hypoglycaemia
§ Hypoalbuminaemia
§ Increasing bilirubin
§ Hyperammonaemia
§ High lactate
§ Electrolyte disturbance
```
204
How to treat cerebral oedema?
Fluid restriction and mannitol (3% saline)
205
What tests are used to look for H pylori?
CLO test and C-13 breath test
206
Investigations for suspected H pylori
CLO and C-13 breath test - looks for urease release from the Bac
Gastric antral biopsies
Stool testing for H pylori
207
What eradication therapy can be used for detected H pylori? (nb: not peptic ulceration)
Metronidazole + Amoxicillin OR Clarithromycin
208
What are symptoms of functional dyspepsia?
```
Epigastric pain
Early satiety
Bloating
Post-prandial vomiting
Delayed gastric emptying (due to gastric dysmotility)
```
209
Rose spots indicate which infection
Salmonella typhoid
210
What are some complications of CMV Infection discovered during pregnancy?
Hearing loss,Low-birth-weight, hydrocephalus, Microcephaly, seizures
211
Which part of the bowel does Crohn's commonly affect?
Terminal ileum
212
Possible primary causes of constipation
- Hirschsprung disease
- Lower spinal cord problems
- Anorectal abnormalities
- Hypothyroidism
- Coeliac disease
- Hypercalcaemia
213
What is Apley's criteria?
If recurrent abdo pain is peri-umbilical, doesn't wake the child up from sleep, lasts no more than a few hours and has not been present for a considerable period of time then no Ix are necessary + non-organic cause is more likely.
214
What are the most common causes of meningitis in the UK?
Streptococcus pneumoniae
| Neisseria meningitidis
215
If meningitis is caused by the classic bacteria ie strep pneu. or neisseria menin. then what results would you expect on an LP?
Raised WCC
Normal protein
Glucose <2/3 of serum glucose
216
What is the causative organism likely for meningitis in the immunosuppressed? eg co-exisiting HIV infection
Cryptococcus neoformans
217
Parasaetemia levels in malaria?
<1% mild, 1-2% moderate, >2% esp higher warrants careful observation
218
When should you perform a splenectomy in malaria?
If there is evidence of a ruptured spleen eg hypovolaemic shock and peritonism
219
Features of kawasaki disease
Fever, bilateral non-purulent conjunctivitis, red fingers/toes, swollen lymph nodes, dry/cracked lips, rash (blanching, erythematous, confluent). (can have cardiac involvement in form of coronary artery aneurysms)
220
What should one consider if there are petechial spots in the presence of fever and clinical signs of shock?
Meningococcal sepsis (commence IV ceftriaxone immediately and consider the need for a fluid bolus)
221
How does scarlet fever present?
Sandpaper rash, STRAWBERRY TONGUE, erythematous mucous membranes, high fever, swollen lymph nodes, sore throat
222
What are the complications of periorbital cellulitis?
```
Visual loss
Abscess
Septicaemia
Orbital cellulitis
**Meningitis** (spread to CSF around optic nerve)
```
223
Presentation of lymphoma
Enlarged lymph node, increasing in size, dry cough/prolonged fever/night sweats/weight loss, reduction in appetite, CXR may show mediastinal mass
224
What should one consider if there are petechial spots in the presence of fever and clinical signs of shock?
Meningococcal sepsis
225
Definition of juvenile idiopathic arthritis
6 weeks of joint pain and swelling which persists after other diagnoses have been excluded
226
What is the most common congenital infection acquired in pregnancy?
CMV
227
What are mothers routinely screened for in early pregnancy?
Rubella
HIV
Syphilis
Hepatitis B
228
Which congenital infection is associated with congenital heart defects>
Rubella
229
Rose spots may indicate which type of infection
Salmonella typhi eg Typhoid
230
What is late complement deficiency and what illness does it usually cause?
Deficiency of C5-C9. It is typically characterised by meningitis due to often recurrent meningococcal infections eg N. meningitidis.
231
Whats the difference between a simple and a complex seizure?
Simple <5mins, self-resolving
| Complex >15mins, requires medical treatment
232
What is DiGeorge syndrome caused by?
22q11 deletion
233
What is Wiskott/Aldrich syndrome?
X-linked recessive disease: involves microthrombocytopenia, atopic dermatitis and immunodeficiency resulting in recurrent infections
234
What is late complement deficiency and what illness does it usually cause?
Deficiency of C5-C9. It is typically characterised by meningitis due to often recurrent meningococcal infections.
235
In what situation would you give Adrenaline IV?
Cardiac arrest protocol (give IV or through endotracheal tube)
236
Why do you have to admit and observe a child who has had an anaphylactic reaction?
There is a biphasic response - second reaction may occur 6-12hrs later despite no contact with the allergen
237
What is erythema multiforme?
Rash described with target lesions with a surrounding red ring. Can be caused by drugs eg penicillin or sulphonamides, infection eg atypical pneumonia or idiopathic
238
Features of DiGeorge's syndrome?
```
Cleft palate
Aortic arch and other cardiac abnormalities eg tetralogy of fallot/VSD
Thymic hypoplasia
Typical facial features
Hypocalcaemia
```
239
What are the likely immune test results for SCID patients?
Low B cells
Low T cells
Low immunoglobulins
240
Presentation of cow's milk protein intolerance
Diarrhoea (can be bloody) upon introduction to cow's milk based formula or breast milk if mother drinks/eats dairy products. also associated with eczema on the face
241
How does fructose intolerance present?
```
Vomiting
Hypoglycaemia
Failure to thrive
Hepatomegaly
Jaundice
Renal complications
Severe metabolic acidosis
```
242
Features of DiGeorge's syndrome?
```
Cleft palate
Aortic arch and other cardiac abnormalities
Thymic hypoplasia
Typical facial features
Hypocalcaemia
```
243
What is ELISA used for?
Detection of known proteins eg autoantibodies or bacterial/viral detection
244
What are the two most important complications of eczema?
Cellulitis -> bacterial superinfection (Gram + cocci eg staph and strep)
Eczema herpeticum --> (HSV)
245
Causative organisms bacterial meningitis in 1mth-6yr olds
NHS
Neisseria meningitidis
Haemophilus influenzae
Streptococcus pneumoniae
246
Patients who are immunocompromised eg on steroids or chemo are at risk of infections caused by which organisms?
Mycobacterium tuberculosis
| Pneumocystis jiroveci
247
What does a septic screen include?
```
Blood culture
FBC including differential WCC
Acute phase proteins (e.g. CRP)
Urine sample
If indicated:
CXR, LP, Rapid antigen screen on blood/CSF/urine, Meningococcal and pneumococcal PCR on blood/CSF, PCR for viruses in CSF (especially HSV and enteroviruses)
```
248
Causative organisms for bacterial meningitis in neonates-3mth year olds
GEL
Group B Strep
E. Coli
Listeria monocytogenes
249
Causative organisms bacterial meningitis in 1mth-6yr olds
NHS
Neisseria meningitidis
Haemophilus influenzae
Streptococcus pneumoniae
250
To whom is prophylactic treatment given for bacterial meningitis?
Rifampicin or ciprofloxacin given to ALL household contacts for meningococcal meningitis or H.influenzae infection
Household contacts of patients with group C meningococcal meningitis should be vaccinated with the meningococcal group C vaccine
251
What type of drug should NOT be used in meningococcal septicaemia?
Steroids
252
What organisms are associated with the complication of subdural effusion in meningitis?
H. influenzae
| Pneumococcal meningitis
253
Complications of meningitis
1. Hearing impairment
2. Local vasculitis: focal neuro deficits or cranial nerve palsies
3. Local cerebral infarction: focal or multifocal seizures, later on epilepsy
4. Subdural effusion
5. Hydrocephalus
6. Cerebral abscess
254
To whom is prophylactic treatment given for bacterial meningitis?
Rifampicin or ciprofloxacin given to ALL household contacts for meningococcal meningitis or H.influenzae infection
255
Viral causes of meningitis
o Enteroviruses
o EBV
o Adenoviruses
o Mumps
256
Causative organism in Lyme disease meningitis
Borrelia burgdorferi
257
Risk factors for early onset neonatal sepsis
* Prolonged or premature rupture of membranes
| * Chorioamnionitis (mother has fever during labour)
258
What is a complication of toxoplasmosis ?
Chorioretinitis
259
Most common pathogen causing late onset neonatal sepsis?
Coagulase negative staph
260
Risk factors for late onset neonatal sepsis
* Indwelling central venous catheters for parenteral nutrition
* Invasive procedures that break skin barrier
* Tracheal tubes
261
Risk factors for early onset neonatal sepsis
* Prolonged or premature rupture of membranes
| * Chorioamnionitis (mother has fever during labour)
262
What is the choice of aminoglycoside in the UK and for what pathogen class is it used?
Gentamicin
| Gram negatives
263
What are the investigations for food allergy?
IgE mediated:
1) Clinical investigation
2) Skin prick tests
3) Patch testing
4) IgE antibodies
Non-IgE mediated:
More based on clinical Hx and observation. Can involve endoscopy + intestinal biopsy if necessary.
If any doubt in both: gold standard = EXCLUSION of relevant food under clinical observation
264
How does IgE mediated food allergy usually present?
Urticaria
Facial swelling
Can progress to anaphylaxis
265
How does non-IgE mediated food allergy usually present?
Diarrhoea
Vomiting
Abdominal swelling
Faltering growth (if left for a long time)
266
What is food protein induced enterocolitis syndrome?
Results from non-IgE mediated food allergy causing blood in the stools due to proctitis in the first few weeks of life or severe vomiting which can lead to shock
267
Management of cow's milk allergy
1. Consider referral to secondary care for skin prick/specific IgE antibody blood test
2. Strict cow's milk elimination diet for at least 6mths, until child is 9-12mths old (if breast fed then mum avoid dairy, if formula then use hypoallergenic kind, if older children then no dairy)
3) Regularly monitor growth + consider reassessing for tolerance + 'Milk ladder' for reintroduction
268
Most effective treatment for allergic rhinitis
Intranasal corticosteroid
269
What to do with ANY FEBRILE CHILD with a purpuric rash ?
Treat immediately with
IM penicillin OR
IV 3rd generation cephalosporin
THEN ADMIT TO HOSPITAL
270
What tool can be used to help identify urticaria severity?
Urticaria Activity Score (UAS7)
271
Children who are at risk of streptococcal infections (e.g. due to hyposplenism due to SCD or something like nephrotic syndrome) should be given what?
Daily prophylactic penicillin to prevent infection
272
What are examples of some streptococcal infections that are immune mediated?
Post-streptococcal glomerulonephritis
| Rheumatic fever
273
Since the meningitis vaccine in the UK, what are most cases caused by?
Group B Meningococci
274
Children who are at risk of streptococcal infections (e.g. due to hyposplenism) should be given what?
Daily prophylactic penicillin to prevent infection
275
What are examples of some streptococcal infections that are immune mediated?
Post-streptococcal glomerulonephirtis
| Rheumatic fever
276
What is the management of impetigo?
Advice: usually heals without scarring, stop sch until lesions crusted/dried over.
Medical:
topical > topical fusidic acid 3-4day for 7days
oral >flucloxacillin 4/day for 7days
Bullous: oral flucloxacillin or clarithromycin/erythromycin
277
What is Nikolsky's Sign?
Areas of epidermis will separate on gentle pressure, leaving denuded areas of skin
278
Treatment of staphylococcal scalded skin syndrome
IV antibiotics (flucloxacillin)
Analgesia
Monitoring hydration and fluid balance
279
What are the human herpes viruses?
```
HSV1
HSV2
VZV
CMV
EBV
HHV-6
HHV-7
HHV-8
```
280
What prevention can be used for primary VZV in immunocompromised patients?
• Human varicella zoster immunoglobulin if they come into contact with VZV eg pregnant mother not exposed in contact with child exposed etc
281
What treatment should be considered for chickenpox and when?
Oral acyclovir 800 mg 5/day for 7 days
- Within 24hrs onset of the rash
- If the chickenpox is severe
282
What are three serious complications of chicken pox?
Secondary bacterial infection
Encephalitis
Purpura fulminans
283
What prevention can be used for primary VZV in immunocompromised patients?
• Human varicella zoster immunoglobulin if they come into contact with VZV eg pregnant mother not exposed to child
284
What treatment should be considered for chickenpox and when?
Oral aciclovir 800 mg 5/day for 7 days
- Within 24hrs onset of the rash
- If the chickenpox is severe
285
What does EBV have a tropism for?
B lymphocytes and epithelial cells of the oropharynx
286
What medication should be avoided in children with EBV?
Ampicillin and amoxicillin (can cause a florid maculopapualr rash)
287
Signs of severe anaemia
```
Impaired consciousness
Pallor --> severe anaemia
Acidotic breathing
Resp distress
Hypoglycaemia
Prostration
```
288
What are the thick and thin blood smears used for in malaria?
Thick for diagnosis
| Thin for species identification
289
Chloroquine should not be used for which type of malaria
Falciparum due to widespread resistance
290
First line treatment for uncomplicated Plasmodium falciparum malaria
ACT- artemisinin combination therapy
291
In the Indian subcontinent, what medication are most cases fo typhoid resistant to?
Ciprofloxacin. So use ceftriaxone or azithromycin instead (or combo of both if no response)
292
What malaria drug should NOT be given to children <12yrs?
Doxycyline
293
What are some complications of malaria?
```
Cerebral malaria
ARDS
Coagulopathy + spotaneous bleeding + splenic rupture
Septicaemia
Severe anaemia
Metabolic acidosis, hypoglycaemia
Jaundice
Nephrotic syndrome, AKI
```
294
What infectious cause is suggestive of these blood results?
- Increase in Hct
- Rapid decrease in pct count
- Leukopenia
+ raised AST/ALT
Dengue fever
295
What is dengue?
Arboviral infection transmitted by Aedes genus of mosquito
296
When does dengue shock syndrome occur?
When a previously infected child is infected with a different strain of the virus. A partially effective host response augments the severity of infection by causing capillary leak syndrome, hypotension and haemorrhagic complications.
297
What infectious cause is suggestive of these blood results?
- Increase in Hct
- Rapid decrease in pct count
- Leukopenia
Dengue fever
298
How can parvovirus B19 be transmitted?
Resp secretions
Vertical transmission
Infected blood products
299
What can parvovirus B19 precipitate in children with chronic haemolytic anaemias?
Aplastic crisis
300
What effect can parvovirus B19 have on foetuses?
Rarely, foetal hydrops + death due to severe anaemia
301
Coxsackie A16 causes
Hand, foot and mouth disease
302
- Low-grade fever
- Painful oral ulcers
- Vesicles on the hands and feet
What condition?
Hand, foot and mouth disease
303
Most common cause of viral meningitis in developed countries
Enteroviruses
304
Most common complication of measles
Otitis media
305
Most serious complication of measles
Subacute panencephalitis / encephalitis
306
Clinical signs of rubella
Maculopapular rash, begins on face and spreads to whole body (often first sign of infection)
307
Cardinal features of Kawasaki disease
```
CRASH and Burn
Conjunctivitis
Rash
Adenopathy (usually cervical)
Strawberry tongue
Hand (swelling/erythema of hands and feet)
Burn (fever)
```
308
Why should TB never be diagnosed on CXR alone in HIV+ children?
Risk of confusing it with lymphoid interstitial pneumonitis
309
What stains can be used to identify TB?
Ziehl Neelsen or Auramine stains
310
What is the tuberculin skin test (TST)?
Inject purified protein derivative intradermally into the forearm and observing 48-72 hours later --> measure the induration in millimetres (beware result may be because of past BCG not necessarily had infection)
311
How should a TST of 5+mm be considered?
≥5 mm considered positive in situation of HIV infection, contact with infectious TB case within past 2 years, fibrotic opacities on chest x-ray consistent with untreated but healed TB, severely immunosuppressed patients (e.g., organ transplant, tumour necrosis factor-alpha-blocker, prednisolone ≥15 mg/day for 1 month or longer)
≥10 mm considered positive in situation of TST conversion within 2 years, medical or social conditions associated with increased risk of progression to active TB (e.g., diabetes, malnutrition, cigarette smoking, alcohol consumption >3 drinks/day, intravenous drug users, leukaemia, lymphoma, head and neck cancer, lung cancer, chronic renal failure), recent immigrants from countries with high prevalence of TB, residents and employees of high-risk congregate settings (e.g., nursing homes, prisons), TB laboratory personnel
≥15 mm considered positive in people with no risk factors for TB
312
What is the treatment for tuberculosis?
RIPE and key worker for all +ve individuals:
Rifampicin + Isoniazid (6months)
Pyrazinamide + Ethambutol (2 months)
If adolescent - give pyridoxine (vitB6) weekly to prevent peripheral neuropathy due to isoniazid
If TB meningitis - give dexamethsone
Then do screening/contact tracing
313
What is the prevention/contact tracing procedure for TB in the UK?
o UK RECOMMENDATION: BCG is given at birth for high-risk groups (but never HIV+ or immunocompromised individuals)
o As most children are infected by a household contact, it is important to screen other family members
o NICE GUIDELINES: children < 2 years who had close contact with a sputum smear positive pulmonary TB person should be started on prophylactic isoniazid
• If TST and IGRA are negative at 6 weeks, isoniazid should be discontinued and BCG should be given
314
What test should be performed in a patient with Pneumocystic jirovecii pneumonia?
HIV test
315
What prophylaxis is given to HIV + patients and which patients qualify for this?
PCP prohylaxis of co-trimoxazole
- infants
- older ppl with lower CD4+ cell counts
316
Erythema migrans suggests
Lyme disease, caused by Borrelia burgdorferi
317
What is X-linked agammaglobulinaemia caused by?
Abnormal Tyrosine Kinase gene, essential for B-cell maturation - leads to B-cell/antibody defects
318
SPUR infections are indicative of what?
```
Primary immunodeficient
(Severe, prolonged, unusual, recurrent infections)
```
319
How do immunodeficiencies tend to present?
Prolonged or recurrent diarrhoea, faltering growth, recurrent infections eg pneumonia, severe infections eg meningitis, osteomyelitis, recurrent warts, candidiasis, complications following live vaccinations eg disseminated BCG etc
320
Treatment of emergency asthma attack (in hospital)
1) 10 puffs of salbutamol via spacer
2) Oral prednisolone
3) Salbutamol and atrovent nebuliser (can be oxygen driven if sats are low) - try max 3 doses of salbutamol and one of Atrovent
4) MgSO4
5) Consider IV salbutamol or aminophylline
6) Consider intubation and ventilation
321
What are some complications of primary ciliary dyskinesia (kartagener's syndrome)?
- Sinusitis
- Otitis media
- Infertility
- Bronchiectasis
- Dextrocardia +/- situs inversus (cilia are necessary for determination of sites of internal organs during development)
322
How is chronic lung disease defined?
Oxygen requirement at 36 weeks corrected gestation or 28 days post-term
323
What may be seen in a neonate with CF?
Meconium ileus
| Prolonged jaundice
324
Where are foreign bodies most likely to get lodged in the lung?
Right middle lobe - terminal one of three branches of right main bronchus, which is widest, shortest + most vertical of the bronchi.
325
What is the most common congenital heart defect?
VSD - accounts for 1/3 of them (Second is patent ductus arteriosus)
326
What are some signs of congenital heart disease?
Respiratory distress with feeds
Cyanosis
Hepatomegaly (+ potentially splenomegaly as a result of back-pressure secondary to right-sided heart failure)
Sweating with feeds
327
What score is used to determine the severity of croup?
Westley score
=2 is mild - barking cough but no stridor at rest
3-5 is moderate easily heard stridor but few other signs
6-11 is severe - obvious stridor and chest wall indrawing
=/>12 - impending respiratory failure, cough and stridor may not be prominent at this stage anymore
328
What is the most common cause of congenital heart disease in DS?
Atrioventricular septal defect
329
What is the most common congenital heart defect?
VSD - accounts for 1/3 of them
330
What are some signs of congenital heart disease?
Respiratory distress with feeds
Cyanosis
Hepatomegaly
Sweating with feeds
331
How do loop diuretics work and give an example of one?
Furosemide/Frusemider
| Inhibition Na reabsorption in ascending limb of loop of henle
332
What type of shunt do ventricular septal defects produce?
Left to right - hence the child will NOT be cyanosed unless left untreated - Eisenmengers syndrome then develops in teenage years - pul HTN results in Right to left shunt + cyanosis
333
How do loop diuretics work and give an example of one?
Furosemide/Frusemider
| Inhibition Na reabsorption
334
What type of shunt do ventricular septal defects produce?
Left to right - hence the child will NOT be cyanosed.
335
What cardiac defects are associated with down syndrome?
Atrioventricular septal defect
VSD
ASD
Tetralogy of fallot
336
When should indomethacin be used in children?
To close the ductus arteriosus if child has significant resulting respiratory distress or impaired systemic oxygen delivery
(it inhibits prostaglandin production)
337
What congenital heart conditions will cause a baby to go blue on day2/3 and why?
Closure of ductus arteriosus into ligamentum arteriosum means circulation of blood from left-right shunting into systemic circulation can no longer continue
- Tetralogy of fallot
- Pulmonary atresia
- Tricuspid atresia
- Transposition of the great arteries
- Total anomalous pulmonary venous drainage
338
When should indomethacin be used in children?
To close the ductus arteriosus if child has significant resulting respiratory distress or impaired systemic oxygen delivery
339
What is the most appropriate diagnosis in a child eg 7yrs who presents with intercurrent illness, increased HR eg 180bpm? Child may be pale + sweaty but alert. RR may be increased.
SVT
340
What is suggestive of a delta wave and short PR interval on ECG?
Wolff-Parkinson-White syndrome
341
Management of a SVT in a child
1) If child alert: Vagal manoeuvres eg blow a syringe like a balloon, put head in ice, unilateral carotid massage
2) Adenosine
3) Sedated synchronized cardioversion
342
When should non-synchronized cardioversion be used?
Ventricular fibrillation
Ventricular tachycardia
(in all other situations it should be synchronised, otherwise the shock may land on QRS complex which can put a patient into VF)
343
Inflammation of the BCG scar is common in what condition?
Kawasaki's disease
344
What is Ebstein's anomaly?
Abnormal tricuspid valve + hypoplastic right ventricle + pulmonary stenosis
345
What CHD would not allow a child to develop to their teens if left untreated?
Ebstein's anomaly
| Tetralogy of fallot
346
Investigation for renal artery stenosis
Abdominal ultrasound with doppler
347
Discrepancy of BP between arms, radio-femoral delay and systolic murmur heard in the aortic area is suggestive of what?
Coarctation of the aorta
348
Investigation for renal artery stenosis
Abdominal ultrasound with renal doppler
349
Which of these is NOT a sign of cardiac insufficiency?
A) Scattered wheeze on auscultation of the chest
B) Central cyanosis
C) Sacral oedema
D) Tachypnoea with the apex beat palpable in the 7th ICS just lateral to the mid-clavicular line
E) Hepatomegaly
Cardiac insufficiency = heart failure
Central cyanosis is not a feature
350
Why does hepatomegaly occur in heart failure?
Back pressure in the venous system leading to congestion in the portal vein
351
A low rumbling murmur heard above the nipple line with a normal echocardiogram suggests?
Venous hum murmur, normal in children
352
What may be seen on an ECG of a patient with secundum ASD?
RBBB
| Right axis deviation
353
What may be seen on an ECG of a patient with partial AVSD?
Superior axis
354
Continuous murmur below the left clavicle in a baby suggests?
Patent ductus arteriosus
355
What do the following radiology signs suggest?
- Boot shaped heart
- Small heart
- Pulmonary artery bay
- Decreased pulmonary vascular markings
- Up-tilted apex
ToF
356
Steeple sign
PA view of a child with croup shows subglottal narrowing
357
When is methylphenidate prescribed?
For ADHD, given as first line on a 6 week trial basis. Acts as dopamine/NA reuptake inhibitor. SEs of stunted growth, abdo pain, nausea and dyspepsia. Potentially cardiotoxic.
358
What is more likely to present at birth - ToF or TGA?
TGA. ToF presents at 1-2mths.
359
What are Salam attacks?
repeated flexion and extension movements seen in infants suggestive of infantile spasms. Confirm diagnosis on ecg by looking for hysarrythmia
360
Presentation of west’s syndrome
=infantile spasms, usually presents in first 4-8 months of life. ECG shows hypsarrythmia. CT demonstrates diffuse or localised brain disease in 70% (e.g. tuberous sclerosis)
361
Football sign and Rigler sign may be positive in what condition?
NEC
Football sign - air outlining falciform ligament
Rigler sign - air inside and outside of bowel wall
362
What does Balloon atrial septostomy do?
Can be used to encourage mixing of blood in the heart in Transposition of the Great arteries, by breaking the foramen ovale flap.
363
How does a complete AVSD present?
Cyanosis at birth or heart failure after 2-3wks. Usually picked up on antenatal USS.
NO MURMUR
364
If a murmur is heard in tetralogy of fallot, what will it be?
Loud, harsh ejection systolic murmur
365
What do the following radiology signs suggest?
- Boot shaped heart
- Small heart
- Pulmonary artery bay
- Decreased pulmonary vascular markings
- Up-tilted apex
ToF
366
What does Balloon atrial septostomy do?
Can be used to encourage mixing of blood in the heart in Transposition of the Great arteries, by breaking the foramen ovale flap
367
How does a complete AVSD present?
Cyanosis at birth or heart failure after 2-3wks. Usually picked up on antenatal USS.
368
Features of DiGeorge syndrome
```
Chr22q11.2 microdeletion
Hypocalcemia
Absence of thymus
Immunodeficiency
Palatal defects
```
369
A carotid thrill is always present in which cardiac condition?
Aortic stenosis
370
Transcatheter balloon dilatation can be used for which conditions?
Aortic or pulmonary valve stenosis
371
What are the indications for exchange transfusion?
Acute chest syndrome
Stroke
Priapism
372
Features of DiGeorge syndrome
Chr22q11.2 microdeletion
Hypocalcemia
Absence of thymus
Immunodeficiency
373
Auer rods are suggestive of which diagnosis?
Acute myeloid leukaemia
374
What can painful crises be triggered by in SCD?
Cold weather
Infection
Dehydration
Hypoxia
375
What are the indications for exchange transfusion?
Sickle cell crisis
Stroke
Priapism
376
What is the inheritance of vWF disease?
Types 1 and 2 - Autosomal dominant
| Type 3 - Autosomal recessive
377
How does HUS present?
AKI - raised urea and creatinine
Haemolytic anaemia - low Hb
Thrombocytopenia - low platelets
Secondary to E.Coli or Shigella gastroenteritis so Hx of exposure ie child went to petting farm + child may have diarrhoea etc
378
What are the causes of clubbing?
```
CF
Bronchiectasis
Cyanotic congenital heart disease
IBD
Liver cirrhosis
```
379
What are some long term complications of childhood cancer/ cancer treatment?
- Educational difficulties (due to time missed off school or hearing/seeing difficulties due to malignancy or Tx)
- Infertility
- Growth problems
- Blood malignancies eg leukaemias and lymphomas
380
What is the inheritance of vWF disease?
Autosomal dominant
381
How does HUS present?
AKI - raised urea and creatinine
Haemolytic anaemia - low Hb
Thrombocytopenia - low platelets
382
Prolonged breastfeeding and lack of weening may cause what blood results in a child?
Abnormal iron/haem studies ie
- Low Hb
- Low ferritin
- Low MCV
- Normal B12 and folate
383
What is the normal blood volume for healthy term infants?
80ml/kg
384
A 1-year-old infant has an intake of iron of about
8mg/day
385
Causes of microcytic anaemia
Iron deficiency anaemia
Beta thalassemia trait
Anaemia of chronic disease
386
Raised HbA2 is suggestive of what condition?
B-thalassemia trait. There may also be raised HbF.
387
Management of hereditary spherocytosis
Largely supportive
- Blood transfusion
- Folic acid supplements
- Splenectomy + Vaccination for encapsulated bacteria eg H influenzae, Strep pneu., Men C
- Cholecystectomy
- Pneumococcal prophylaxis (Oral pen)
388
Who gets G6PD?
Mostly boys - it is X-linked recessive (although can rarely happen in girls)
389
Why would hydroxycarbamide be given to SCD patients?
Stimulates HbF production (NB: hydroxycarbamide = hydroxyurea)
390
Raised HbA2 is suggestive of what condition?
B-thalassemia trait
391
Indications for an unilateral undescended testicle at 8 weeks
If the testis is undescended by 3 months of age, the child should be referred to a paediatric surgeon and seen before 6 months of age. Orchiplexy often done around 1 Year.
392
What are some of the causes of aplastic anaemia?
Can be acquired or inherited eg
- Drugs (sulphonamides, chemotherapy)
- Viruses (hepatitis)
- Toxins (benzene)
- Idiopathic
- Fanconi's anaemia
- Shwachman-Diamond syndrome
393
Neonates have lower levels of all clotting factors except...
Factor 8 and fibrinogen
394
Bilateral undescended testes need
urgent review within 24hr by senior paediatrician
395
What should be avoided in patients with haemophilia and vWF disease?
IM injections
Aspirin
NSAIDs
396
What may be useful to give in Haemophilia A?
Desmopressin - stimulates release of endogenous factor 8 and von willebrand
397
Why are patients with vWF disease also deficient in factor 8?
One of the roles vWF plays is to act as a carrier protein for factor 8, protecting it from inactivation and clearance
398
What other conditions is T1DM associated with?
Addison's
| Coeliac
399
What would the triple test results be for Downs Syndrome?
Low AFP, estriol, high hCG (and inhibin-A if quadruple test)
400
What would the triple test results be for Edwards Syndrome?
Low AFP, estriol, hCG
401
What would the triple test results be for NTDs?
High AFP
402
What would the results be for a T21 foetus in combined test?
NT high
hCG high
PAPP-a
403
Management of hyperthyroidism
Carbimazole or propylthiouracil (usually given for around 2years)
- Beta-blockers can be used symptomatically
Other options include
- Radioiodine
- Surgery
404
Management of hypocalcaemia
```
ACUTE
- IV Ca gluconate
CHRONIC
- Oral Ca
- High doses Vit D analogues
```
405
What ECG change may be seen with hypercalcaemia?
Shortened QT interval
406
Management of hypercalcaemia
Rehydration - IV NaCl
IV bisphosphonates eg zoledronic acid
IV diuretics
407
Biochemical presentation of a salt losing crisis/addison's
LOW Na
HIGH K
Metabolic acidosis
Hypoglycaemia
408
Cause of achondroplasia
Mutation in fibroblast growth factor 3
409
What are the classic facts of Kallman syndrome?
Deficiency of LHRH
| Inability to smell
410
What is global developmental delay?
Delay in acquisition of at least 2 domains of development
411
Form of spastic cerebral palsy that affects arms over legs
Hemiplegia
412
Form of spastic cerebral palsy that affects legs over arms
Diplegia
413
Presentation of cerebral palsy
```
Floopiness
Feeding difficulties
Hand preference before 1 yr
Poor trunk control
Spasticity
Speech impairment
Delayed motor milestones
May have evident signs depending on type ie increased tone/brisk reflexes if spastic or choreic movements if dyskinetic
```
414
What are most cases of ataxic cerebral palsy determined by?
Genetically determined
415
What is dorsal rhizotomy?
Some of nerve roots of spinal cord are cut to reduce spasticity
416
What is baclofen?
Muscle relaxant and anti-spasmodic
417
If urethral obstruction is suspected in a child, what examination should be performed?
MCUG
418
Should you start Abx in a child with neg nitrites but leucocyte exterase positive?
NO, only if strong suspicion of UTI/other confirmatory tests. NB: you would start Abx if nitrites positive but leukocyte esterase neg.
419
Management for enuresis before 5years
1) Reassure parents likely to resolve
2) Ensure easy access to toilet
3) Encourage bladder emptying before bed
4) Consider positive reward system
420
Management of enuresis after 5years
1) If infrequent eg 2x week, reassure
2) Enuresis alarm + positive reward system
3) Desmopressin (ensure no fluid intake 1hr before, can also be used for short term control)
421
What is the normal protein-to-creatinine ratio ?
< 20 mg/mmol
422
What is a common, benign cause of proteinuria?
Orthostatic proteinuria
423
What is usually the earliest sign of nephrotic syndrome?
Peri-orbital oedema
424
Examples of steroid sparing agents
Cyclophosphamide
Tacrolimus
Ciclosporin A
Mycophenolate mofetil
425
What accounts for 70-90% of nephrotic syndrome in childhood?
Minimal change disease
426
What are the findings for renal biopsy below in minimal change disease?
LM:
Immunoflorescence:
ECM:
LM: minimal change
Immunofloresence: Occasional IgM in mesangium
ECM: effacement of podocyte foot processes
427
What are the findings for renal biopsy below in membranous nephropathy?
LM: thickening of capillary walls
ImmunoF: IgG and C3
ECM: thickening of GBM
428
What result needs to be seen under a microscope for haematuria to be confirmed?
> 10 red blood cells per high-power field
429
Key features of Alport's syndrome
- Hearing loss
- Eye problems
- Renal disease (haematuria)
430
Indications for a renal biopsy
Significant persistent proteinuria
Recurrent macroscopic haematuria
Renal function is abnormal
Complement levels are persistently abnormal
431
If a patient presented with haematuria and haemoptysis, what diagnosis may you suspect?
Goodpasture's disease, caused by anti-GBM antibodies
432
Two tests that can aid in diagnosing a post-strep acute nephritis
Anti-streptolysin O titre
| Anti-DNAse B titre
433
What antibody is diagnostic for these vasculitides PAN, MPA, Wegener's?
(c-)ANCA
434
What are the 3 key points for managing vasculitides?
1. Corticosteroids
2. Plasma exchange
3. IV Cyclophosphamide
435
Anti-ds-DNA and low C3/4 levels indicate?
SLE
436
What is the distribution of eczema in a child <18mths?
Trunk, flexure-SPARING, cheeks
437
What are the most common type of renal stone for children?
Phosphate, associated with infection (Proteus)
438
Definition of oliguria
<0.5ml/kg/hr
439
Consider referral for renal replacement therapy if any of the following are not responding to therapy
1) Hyperkalaemia
2) Fluid overload and pulmonary oedema
3) Acidosis
4) Uraemia (eg pericarditis, encephalopathy)
440
If there are ECG changes due to hyperkalaemia, what is the management?
IV calcium gluconate
| Otherwise, can give salbutamol (nebs or IV), ca exchange resin, glucose and insulin, dietary restriction, dialysis
441
What are the most common causes of acute renal failure in the UK?
HUS
| Acute tubular acidosis
442
What is the triad of HUS?
1) Acute renal failure
2) MAHA
3) Thrombocytopaenia
443
What drugs are currently given to achieve immunosuppression in children with transplanted kidneys?
Tacrolimus
Mycophenolate mofetil
Prednisolone
444
What does a septic screen include?
Blood culture, urine cultures,
| cerebrospinal fluid cultures, chest x-ray and C-reactive protein
445
How do you manage a child that has a high blood pressure reading in GP?
Repeat on 3 separate occasions (manually), if still high start investigations and refer to paediatric nephrologist.
446
What is the treatment of choice for malignant HTN?
Sodium nitroprusside
447
What is HUS caused by?
Verocytotoxin produced by E Coli O157 and Shigella gastroenteritis
448
HSP involves what key 4 features?
1) Purpuric rash on extensor surfaces
2) Arthralgia
3) Abdominal pain
4) Renal involvement - haematuria
449
Causes of post-renal AKI?
Ureteric stones
Bladder outflow obstruction
Neuropathic bladder
450
Posterior urethral valves are diagnosed with
Micturating cystourethrogram
451
What medication is given to renal transplant patients?
Septrin
Immunosuppression eg Tacrolimus, Mycophenolate mofetil, Cyclosporin
If impaired growth - Consider need for GH
EPO recombinant
DON"T GIVE NSAIDS - nephrotoxic
452
Presentation of autosomal recessive kidney disease
Presents in childhood
- Pulmonary hypoplasia -> respiratory distress
- Bilateral renal masses
- congenital hepatic fibrosis
- Pulmonary HTN
453
A 5-day-old baby is brought to see the GP because she has had a rash for the past 3 days which started on her chest, is spreading to her face and getting worse. On
examination she handles well and is alert. There is an erythematous rash on her face, torso and right arm with little pustules. What is the most likely diagnosis?
Erythema toxicum
454
What distribution does the rash present in for Sturge Weber syndrome?
Port-wine naevus, trigeminal distribution
455
Causes of petechiae in the superior vena cava distribution
Strangulation
Coughing
Vomiting
(later two due to pressure)
456
Casuses of erythema nodosum
```
NO
Drugs eg Abx - sulphonamides, amoxicillin
Oral contraceptives
Sarcoidosis
Ulcerative colitis, Crohn's, Behcet's
Micro: HepC, TB, Strep, EBV
```
457
What is molluscum contagiosum caused by?
Pox virus
458
What eye problems can excess steroids cause?
Steroids
459
What conditions can be diagnosed using FISH?
DiGeorge's
Cri du chat
Williams'
460
What cardiac defects are Turner's syndrome patients liable to getting?
Coarctation of the aorta
| Aortic stenosis
461
What cardiac valve problem can marfan's patients get?
Mitral valve prolapse
462
What test is important in an Addisonian crisis which will help determine your management?
Renal function tests
- Help identify hyperkalaemia and hyponatraemia
Need to most likely give
IV hydrocortisone and IV dextrose
463
What test is important in an Addisonian crisis which will help determine your management?
Renal function tests
- Help identify hyperkalaemia and hyponatraemia
Need to most likely give
IV hydrocortisone and IV dextrose
464
What is the management of hydrocele?
If <2yrs then observation, should resolve spontaneously
If 2-11yrs then Open repair, laparoscopic exploration, bilateral repair, if abdominal then surgery through abdominal incision
If >11yrs and familial --> removal of tunica vaginalis, observe if idiopathic, surgery if necessary
465
What side of the body are varicocele more likely?
LEFT (left gonadal and left adrenal veins drain directly into left renal vein, rather than into IVC like right hand side)
466
What is a bell clapper deformity?
A testis that is lying transversely on its attachment to the spermatic cord
467
What is likely to present as testicular torsion but of less severity?
Torsion of testicular appendage - Hydatid of Morgagni
468
What is a bell clapper deformity?
A testis that is lying transversely on its attachment to the spermatic cord
469
What is likely to present as testicular torsion but of less severity?
Torsion of testicular appendage - Hydatid of Morgagni
470
Management of Chalmydia or Gonococcal Epididymo-orchitis
Ceftriaxone +/- doxycycline
471
Neurofibromatosis is associated with increased risk of which cancer?
Glioma
472
HHV8 causes what type of cancer?
Kaposi's sarcoma
473
Increased vanillylamandelic acid and homovanillic acid in the urine suggests
Neuroblastoma (both are catecholamines)
474
What triad suggests non-accidental injury?
Subdural haematoma
Retinal haemorrhages
Encephalopathy
475
Risk factors for non-accidental injury
```
Hx of maltreatment
Mental health problems
Domestic violence
Drug or alcohol abuse
Disability or long-term chronic illness
```
476
Consequences of smoking during pregnancy
Increased risk of IUGR
Low BW
Placental abruption
Miscarriage
477
What are the 4 most common congenital infections?
```
TORCH
TOxoplasmosis
Rubella
Cytomegalovirus
Herpes Simplex Virus
```
478
t(8;11) is associated with which type of malignancy?
Burkitt's lymphoma
479
HTLV-1 is associated with what malignancy?
Non-Hodgkin, adult T-cell lymphoma
480
t(11;14) is associated with which type of malignancy?
Mantle cell non-hodgkin's lymphoma
481
What are the three types of aggressive, B cell, Non-Hodgkin's lymphoma?
1. Burkitt's (8;11)
2. Mantle cell (11;14)
3. Diffuse large B cell
482
What are the three types of indolent, B cell, Non-Hodgkin's lymphoma?
1. Follicular
2. Marginal zone
3. Small lymphocytic
483
Popcorn cells under the microscope suggest what malignancy?
Nodular Hodgkin's lymphoma, lymphocyte predominant
484
What are the four types of classical Hodgkin's lymphoma?
1. Nodular sclerosis
2. Mixed cellularity
3. Lymphocyte rich
4. Lymphocyte depleted
485
What malignancy involves lacunar cells?
Hodgkin's lymphoma, classical, nodular sclerosis (most often seen in young women)
486
How does neuroblastoma often present in children? especially in children >2yrs?
Abdominal mass
| In children >2years, presentation is often due to metastases ie bone pain, bone marrow suppression, malaise
487
High urine catecholamine metabolites (VMA and HVA) is suggestive of what?
Neuroblastoma
488
What should a MIBG scan be performed for?
Neuroblastoma - check for mets (can also be used as therapeutic intervention as targeted radiotherapy)
489
MOST COMMON type of soft tissue sarcoma in childhood
Rhabdomyosarcoma
490
What is the inheritance of retinoblastomas?
All bilateral retinoblastomas are hereditary, 20% of unilateral are hereditary
491
How can a retinoblastoma be identified on fundoscopy?
White pupillary reflex replaces red reflex
492
What is a skin manifestation of systemic langerhans cell histiocytosis?
Seborrhoiec rash, can be confused with eczema or seborrhoeic dermatitis
493
If the baby is clinically well, gestational age > 38 weeks and >24 hours old with a bilirubin level that is within 50 micromol/L of the phototherapy threshold what do you do?
Repeat bilirubin measurements
within 18hr if risk factors for neonatal jaundice
within 24hr if no risk factors
494
What are the risk factors for neonatal jaundice?
Visible jaundice within 24hr of birth
Gestational age <38wks
Previous sibling with neonatal jaundice requiring phototherapy
Exclusive breast feeding
495
How should phototherapy be given/what is the process?
Repeat serum bilirubin 4-6hrs after starting, then every 6-12 hours
Stop once serum bilirubin is 50+micromol/L under the threshold
Check for rebound hyperbilirubinaemia 12-18hours after stopping
Encourage short breaks (30mins) for feeding, cuddling, changing nappies etc
496
When should you consider intensified phototherapy?
If serum bilirubin level is rising rapidly (>8.5micromol/L/hr)
If serum bilirubin is within 50micromol/L of threshold for exchange transfusion after 72+hrs after birth
If not responding to phototherapy within 6hrs
497
Assessment of underlying disease in jaundice
```
Transcutaneous/serum bilirubin
FBC and blood film
Blood group
Haemocrit
LFTs
Coombs test
Blood G6PD levels
Septic screen if indicated
Did mum receive anti-D immunoglobulin?
```
498
What is the harm in high bilirubin levels in a baby?
```
Kernicterus = deposition of bilirubin in basal ganglia
Can present as tetra
- auditory neuropathy
- neuromotor symptoms
- oculomotor paresis of upwards gaze
- enamel dysplasia
```
499
Top investigation for diagnosing biliary atresia?
Cholangiogram (TIBIDA)
500
Procedure for biliary atresia
Ideally perform within 60days, KASAI HEPATOPORTOENTEROSTOMY
| - ligate biliary ducts and directly join part of duodenum to porta hepatis of liver
501
Why may ursodeoxycolic acid be given to patients after a kasai hepatoportoenterostomy?
Promotes bile flow
502
What are some of the complications of biliary atresia?
Growth failure
Portal HTN
Cholangitis
Ascites
503
What is a choledochal cyst? How are they detected and treated?
Cystic dilatation of extrahepatic biliary system
Check with USS or MRCP
To treat need to surgically excise with a roux-e-y anastamosis
504
What are some of the features of alagille syndrome?
```
Triangular facies
Butterfly vertebrae
CHD esp peripheral pulmonary stenosis
Eye abnormalities
Renal tubular disorders
```
505
Why does alpha-1 anti-trypsin deficiency lead to emphysema?
Alpha-1 antitrypsin usually neutralises neutrophil elastase. Treat similarly to COPD ie inhaled bronchodilators, ICS, pulmonary rehabilitation and vaccination
506
What are some of the features of galactosaemia?
Liver failure, cataracts, developmental delay
507
What can happen if people with galactosaemia get gram negative sepsis?
Rapidly fatal shock with haemorrhage, DIC
508
What can you measure in red cells to diagnose galactosaemia?
Galactose-1-phosphate-uridyl transferase
509
What can result from prolonged parenteral nutrition
Neonatal hepatitis
510
What happens to coagulation in hepatitis?
It remains normal
511
How can hepatitis A be detected?
Anti-Hep A IgM Abs
512
IgM HBcAb indicates?
Acute infection with hepatitis B virus
513
HBsAg indicates?
Ongoing infection with hepatitis B (surface antigen detection)
514
What percentage of children go on to develop chronic HBV liver disease?
- 30-50% of asymptomatic carrier children will develop chronic HBV liver disease which may progress to cirrhosis
515
What virus does hepatitis D depend on?
Hepatitis B
516
What do 50-70% of chronic hepatitis D sufferers get?
Cirrhosis
517
What is seronegative hepatitis?
When a viral hepatitis is suspected but not identified
518
Who can get severe illness from hepatitis E?
Pregnant women can get fulminant hepatic failure
519
What are the CATS guidelines for liver failure?
INR>/=1.5 + encephalopathy
OR
INR>/=2 w/t encephalopathy but due to liver cause NOT correctable by IV vit K
520
What is fulminant liver failure?
onset of hepatic encephalopathy and coagulopathy within 8wks of onset of liver disease in the absence of any pre-exisiting liver disease in any form
521
Management of acute liver failure
Early referral to a national paediatric liver centre
Key: maintain blood glucose, prevent coagulopathy, sepsis and cerebral oedema
Initial management:
- High flow oxygen
- Secure airway
- Venous access (ideally femoral central access for high conc IV dextrose)
- Prevent coagulopathy: IV vitamin K 2-10 mg, H2 blocking drugs/PPIs
- Maintain blood glucose 4-8 mmol/l (IV dextrose)
- Maintenance 0.9% NaCl + 10% dextrose (fluid restrict to 2/3 maintenance)
- NG tube
- Neuro observations prevent cerebral oedema by fluid restriction and mannitol diuresis
- Prevent sepsis: Broad spec antibiotics and antifungals and parenteral high dose aciclovir in neonates
- N-acetylcysteine in paracetamol poisoning
522
What are some of the findings in autoimmune hepatitis/PSC?
- high total serum protein
- hypergammaglobulinaemia
- autoAbs
- low C4
biopsy --> typical histology
523
What can be used to treat autoimmune hepatitis and Primary sclerosing cholangitis?
AH: Pred + Azathioprine
PSC: Ursodeoxycholic acid
524
What are some of the hepatic consequences of CF?
Hepatic steatosis
| Progressive biliary fibrosis
525
What is wilson's disease?
Autosomal recessive condition in which a basic gene defect results in reduced synthesis of caeruloplasmin (copper-binding protein) and defective copper excretion of copper in the bile --> leads to build up in liver, brain, kidney and cornea
526
A 15 year old presents with increasing aggression and decline in school performance. Her mum has noticed a slight speech impediment. O/E the doctor notices a slight tremor in the right hand and incoordination in pass-pointing. The legs also looked slightly bowed. What is the likely diagnosis?
Wilson's disease
| can get deposits in brain causing parkinsonian type symptoms, renal deposits, haemolytic anaemia and rickets
527
o Low serum caeruloplasmin
o Low serum copper
o Increased urinary copper excretion
===
Wilsons
528
How is a diagnosis of Wilson's disease confirmed?
Elevated hepatic copper on biopsy
OR
Gene mutation identified
529
Mx of wilsons
1) Zinc (blocks intestinal copper absorption)
2) Trientine (increases urinary copper excretion)
3) Pyridoxine (vitamin B6)
530
Why would Pyridoxine (vitamin B6) be given in Wilsons disease?
Prevent peripheral neuropathy
531
What drug can be given to improve bile flow?
Ursodeoxycholic acid
532
What medication can be given to aid pruritis in liver disease?
* Phenobarbital (stimulates bile flow)
* Cholestyramine (bile salt resin to absorb bile salts)
* Ursodeoxycholic acid (oral bile acid that solubilises the bile)
* Rifampicin (enzyme inducer)
533
What is the finding of plasma ammonium in hepatic encephalopathy?
Likely to be elevated
534
What diet may you put a patient on with hepatic encephalopathy?
Low protein - reduce nitrogenous load
535
What are some features of chronic liver disease?
* Jaundice
* Palmar/plantar erythema
* Telangiectasia
* Spider naevi
* Malnutrition
* Hypotonia
* Portal hypertension (caput medusae, splenomegaly)
536
How is acute oesophageal varices managed?
Blood transfusions and H2 antagonists or omeprazole
537
How do you manage ascites?
Na and fluid restriction
| Diuretics
538
If undiagnosed fever, abdominal pain, tenderness or an unexplained deterioration in hepatic or renal function what needs to be excluded?
Spontaneous bacterial peritonitis
539
What should be done if spontaneous bacterial peritonitis is suspected?
o Diagnostic paracentesis should be performed and sent for WCC, differential and culture
o More than 250 neutrophils/mm3 is diagnostic of spontaneous bacterial peritonitis
Treat with broad spec Abx
540
What is the management for cow's milk protein allergy or intolerance?
If formula fed:
- extensive hydrolysed formula (eHF) milk (first line replacement) if mild/moderate symptoms
- amino acid based formula if severe CMPA or no response to extensive hydrolysed formula
If breast fed:
- continue breast feeding
- eliminate cow's milk protein from maternal diet + consider providing mum Ca replacement
- use eHF once breast feeding stops until 1yrs old and for at least 6mths
541
What are three suggestive features of developmental problems?
doesn't smile at 10 weeks
cannot sit unsupported at 12 months
cannot walk at 18 months
542
In what direction is the neck of the femur displaced in SCFE?
Anterolaterally
| Superiorly
543
A shortened, externally rotated leg is suggestive of what condition?
SCFE
544
What is looked for on a Plain X-ray of the hips in SCFE?
Klein's line intersecting less of the femoral head
545
What direction is displacement of the femoral head epiphysis in SCFE?
Postero-inferiorly
546
When is methlyphenidate indicated and what needs to be monitored during its use?
First line pharm treatment for ADHD - give on 6wk trial basis
CNS stimulant - dopaminine/NA reuptake inhibitor
Can affect growth - monitor height and weight every 6mths
If not tolerated, switch to lisdexamfetamine
547
What are the poor prognostic factors of ALL?
```
age < 2 years or > 10 years
WBC > 20 * 109/l at diagnosis
T or B cell surface markers
non-Caucasian
male sex
```
548
When would you admit a baby for IV glucose therapy?
Give 10% dextrose
| If glucose <1mmol/L or symptomatic hypoglycaemia
549
What can cause neonatal hypoglycaemia?
```
Preterm birth (<37wks)
Maternal Diabtes mellitus
IUGR
Hypothermia
Neonatal sepsis
Inborn errors of metabolism
Nesidioblastosis
Beckwith-Wiedemann Syndrome
```
550
What are some features of hypoglycaemai in a neonate/baby?
May be asymptomatic
Autonomic
- Jittery, irritable
- Tachypnoea
- Pallor
Neuroglycopenic
- Poor feeding/sucking
- Weak cry
- Drowsy
- Hypotonia
- Seizures
Other
- Apnoea
- Hypothermia
551
What are the risk factors for SIDS?
- Prone sleeping
- Parental sleeping
- Bed sharing
- Hyperthermia and head covering
- Prematurity
- Male sex
- Social classes IV and V
552
Early-onset (<72hr) neonatal sepsis in the UK is most commonly caused
GBS or otherwise known as Streptococcus agalactiae
553
What is group a strep also known as and what disease does it cause?
Strep pyogenes
| Scarlet fever
554
What organism is associated with late onset (7-28days) neonatal sepsis?
Staph epidermis
or
Gram neg bac eg Pseudomonas aeruginosa, Klebsiella and Enterobacter, Fungal species
555
What is the incidence of neonatal infection?
8 per 1000 live births
556
What are the risk factors for neonatal sepsis?
- Mother with previous baby with GBS infection who has current GBS colonisation
- Premature <37wks
- Low birth weight (<2.5kg)
- Evidence of maternal chorioamnionitis
557
Presentation of neonatal sepsis
- Respiratory distress
- Tachycardia
- Apnoea
- Jaundice
- Seizures
- Poor or reduced feeding
- Abdominal distention
- Vomiting
558
Investigations for neonatal sepsis
```
Blood culture (try to do 2)
FBC
CRP
Blood gases
Urine microscopy
LP
```
559
First-line regimen for suspected or confirmed neonatal sepsis
IV benzylpenicillin with gentamicin
560
A 28-year-old primiparous woman who is 20 weeks pregnant presents after her foetal anomaly scan. The scan showed polyhydramnios and a midline sac containing bowel. She takes no regular medications and has no significant past medical history. She was planning on having a home birth and would like to know how this will affect her delivery.
Which of these is the most appropriate plan of action for this condition?
Exomphalos
= weakness of abdominal wall leads to protrusion of GI contents
need to perform elective C section to prevent risk of rupture, infection and atresia
561
A 12-year-old female presents to her GP with bilateral knee pain, swelling and stiffness. On examination, a salmon-pink rash is noted on the legs.
What is the most likely diagnosis?
Still's disease aka juvenile idiopathic arthritis, has to be for more than 6wks
```
may also have
pyrexia
lymphadenopathy
arthritis
uveitis
anorexia + weight loss
```
ANA may be positive
562
What is the rigler sign?
double wall on x-ray - pneumoperitoneum
563
What is the only anti-depressant that you can give to children?
Fluoxetine
564
What does a collapsing pulse indicate?
Aortic regurgitation or
| patent ductus arteriosus
565
What pulse is associated with patent ductus arteriosus?
Large volume, bounding, collapsing pulse
566
What congenital heart defect can result in later cyanosis in the lower extremities (=differential cyanosis)?
Patent ductus arteriosus (initially not a cyanotic heart disease)
567
At what age does hand preference emerge?
18 months
568
What is talipes equinovarus?
Congenital club foot, may be noted on newborn examination, can see a rigid foot posture that proves difficult to correct
569
What is pigeon toe?
Condition where the toes turn in while you're walking or running. Most cases resolve by teens but some may need surgery.
570
What is genu varum?
Bowing of legs, genu valgum is opposite (ie knock-knees)
571
What is pes planus?
Flat foot (loss of medial longitudinal arch of the foot)
572
What is transient synovitis of the hip and what causes it?
Inflammation in hip joint, most commonly occurs in pre-pubescent children, causes pain, limp, refusal to bear weight
Associated with decreased internal rotation of the hip
Mx:
NSAIDs + observe -> should improve within 48hrs
573
What is legg-calve-perthes disease? Who gets it? How is managed?
Idiopathic avascular necrosis of the proximal femoral epiphysis
4-8yr olds, M:F 5:1, prognosis better if <6yrs
Can do traction or surgery - aim is to keep femoral head well located in acetabulum
574
In Legg-Calves-Perthes disease, up to 75% of affected patients have some form of what?
Coagulopathy
575
What are the most common causative organisms for septic arthritis and osteomyelitis (coincidentally the same) in
- neonates
- children over 2 years
Neonates: GBS
| Children >2yrs: Staph aureus
576
What are bony spurs?
Grow on the bones of the spine or around the joints, can be seen in osteoarthritis
577
What GI manifestation can children suffering from HSP have?
Tarry stool ie blood in stool
578
"Golf-ball" appearance of the red cells indicates what condition
Inclusion of HbH - indicates alpha thalassemia
579
From what age is a palmar grasp observed?
6 months
580
What are the primitive reflexes?
Moro
Grasp
Rooting
Walking
581
Between what ages is jumping seen?
36 and 48 months
582
What other abnormality is associated with pes planus?
Genu valgum
583
Where are the common sites of osteomyelitus?
Metaphysis of distal femur
| Proximal tibia
584
What are the characteristic findings for osteomyelitis on
- X-ray
- Bone scan
X-ray: subperiosteal bone formation
| Bone scan: hot spots
585
What is the first line treatment of juvenile idiopathic arthritis?
NSAIDs
586
What are the features of tumour lysis syndrome?
- Hyperkalaemia
- Hyperphosphatemia
- Hypocalcaemia
- Hyperuricaemia
587
Which brain tumour in children is benign and associated with solid and cystic elements with calcification?
Cranipharyngioma
588
A boy is recently diagnosed with neuroblastoma. What additional manifestation is he likely to demonstrate on examination?
An abdominal mass
589
On what chromosome are abnormalities linked to wilm's tumour?
11
590
What is erysipelas and what is it caused by?
Form of cellulitis, results in red rash/discolouration over face or more commonly over lower limbs with associated swelling, can spread in superficial cutaneous lymphatics
-> most caused by group A beta-haemolytic strep
591
Flesh coloured, dome shaped lesions
Molluscum contagiosum
592
What drug can be given to those suffering from vWD?
Desmopressin (can increased vWF and factor 8 levels)
593
What is the gold standard investigation for aplastic anaemia?
Bone marrow aspiration
594
Unilateral lymphadenopathy in children is often caused by?
Staph or Strep
595
What accounts for 50% of brain tumours in children and arises from astrocytes?
Glioma
596
"dancing eyes" or jerky eye movements in a cachetic child is characteristic of what?
neuroblastoma
597
X-ray findings of a sunburst appearance in a child with bone pain is characteristic of what?
Osteosarcoma
598
X-ray findings of an onion skin-type appearance in a child with bone pain is characteristic of what?
Ewing's sarcoma
599
What organisms can cause erythema nodosum?
Streptococcus
Mycobacterium tuberculosis
Mycoplasma
600
Green fluorescence under UV light of itchy lesions on the head + a Hx of hair falling out in a child indicates
Tinea capitis
601
How do we define precocious puberty?
Onset before
8 in a girl
9 in a boy
602
How do we define delayed puberty?
No signs of secondary sexual characteristics by 14 years
603
What are the two categories of delayed puberty?
1) Hypogonadotrophic hypogonadism
| 2) Hypergonadotrophic hypogonadism
604
What are streak gonads?
Gonads that don't produce any hormones eg in Swyer syndrome / XY gonadal dysgenesis
605
When does the ductus arteriosus close?
2 days
606
What is the most common cause of croup?
Parainfluenza virus types one and two are responsible for 75% of cases
607
What until Recently was the most common cause of epiglottitis and why has this changed?
Haemophilus influenza type B, we now give the Hib vaccine so other bacterial causes are now more common. Treat with steroids + 3rd gen cephalosporins eg ceftriaxone (or vancomycin/clindamycin) IV
608
Typical presentation of ring worm?
Red patches in the groin and armpits which extends to the trunk
609
Typical presentation of scabies?
Very itchy head face and hands. Red papules and vesicles with evidence of crusting.
610
What is malathion solution used to treat?
Scabies
611
Treatment of strawberry naevus? Complications of the condition?
Cryotherapy or laser, can also use steroids and interferon. Associated with increased bleeding and thrombocytopenia.
612
How long does it take for the pulmonary pressure in a newborn to drop?
It drops over the first 1 to 2 months of life.
613
Most common cause of a middle ear infection?
Streptococcus most commonly causes otitis media
614
Continuous machinery murmur under the left clavicle and bounding pulse suggests well?
Patent ductus arteriosus
615
Injection click and a murmur over the aortic area suggest what? Where can this murmur also be heard?
Aortic stenosis. Neck.
616
A mother brings her son to A&E. She comments that he has been experiencing bouts of coughing which is associated with him going blue. In addition she states that he has been vomiting on occasion. Routine blood investigations demonstrate a lymphocyte count of 60×10 to the nine. What is the most likely diagnosis? And why are the coughing bouts happening? What is this condition Associated with?
Bordetella pertussis. The coughing belts are due to severe necrosis within the pulmonary epithelium. It is associated with pneumonia and seizures.
617
What Kallmann's syndrome?
Lack of GnRH
- delayed/absent puberty
- lack of smell
618
What drug is specifically associated with CHD in newborn?
Lithium
619
What is retinoblastoma? How does it present? How is it managed?
Most common ocular malignancy in children, presents around 18mths, 10% hereditary (AD). Loss of function of reTinoblastoma TSG in chr13. Can present with absence of red reflex, Leukocoria, strabismus and visual problems. Manage via enucleation and consider external beam therapy, chemo and photocoagulation. >90% survive into adulthood.
620
What causes fragile X syndrome and how do patients present?
CGG triplet repeat within the FMRI gene on X chromosome - results in silencing of this part of gene and deficiency in resulting protein FMRP which is needed to form neuronal connections. Children have macropcephaly with long and narrow face, LARGE EARS, macroorchidism, intellectual impairment and commonly associated with ADHD. May also get recurrent otitis media and mitral valve prolapse. Tends to present around the time of puberty.
621
What criteria is used to determine the risk of septic arthritis?
Kocher’s criteria
622
What joints are most affected by septic arthritis?
Hip, knee and ankle
623
A boy with learning difficulties is noted to be extremely friendly and extroverted. He has short for his age and has supravalvular aortic stenosis. What is the diagnosis?
Williams syndrome
624
Autism is a triad of what?
Communication impairment
Impairment of social relationships
Ritualistic behaviour
625
Attention deficit hyperactivity disorder comprises of what three major domains?
Hyperactivity
Inattention
Impulsivity
626
What type of murmur is associated with Turners?
Systolic, loudest over aortic valve
627
A short fourth metacarpal is associated with what genetic condition?
Turners
628
What is the most common renal abnormality in Turner's syndrome?
Horseshoe kidney
629
Hand, foot and mouth disease is most commonly caused by?
Coxsackie A16 and Enterovirus
630
Another telephone her GP following concerns about her daughter. Her daughter has had a temperature of greater than 40° for four days that has settled. But she has developed a pale red-spot-like rash on her body which has spread to her arms, legs and neck. What is the most likely diagnosis?
Roseola infantum. Febrile convulsions are common. Caused by HHV6B
631
A young child is rushed to A&E following a fever for more than five days. On examination you no evidence of a maculopapular rash on the child’s arms and neck. In addition you no evidence of cervical lymphadenopathy and a strawberry like tongue. What is the most likely diagnosis?
Kawasaki’s disease
632
Streptococcus pyogenes is responsible for what condition? How does it present?
Scarlet fever. Presents with lymphadenopathy, fever, Sore throat, strawberry tongue with a white coating, rash which spares the face, Palms and soles and has a sandpaper texture. Treat with penicillin
633
How does slapped cheek syndrome present and what is the cause of it?
starts with a low-grade fever, headache, rash, and cold-like symptoms, such as a runny or stuffy nose. Then symptoms stop and a couple of days later a red rash appears all over the body but most prominently on the cheeks. It is caused by parvovirus b19. The child stops being infectious when the rash appears.
634
What is the Paul Bunnell test?
The Monospot test
635
How is Asperger’s syndrome characterised?
Social impairment without evidence of impaired language
636
What platelet count is a contra indication of performing a lumbar puncture in a child?
Less than 50x10(9)/L
637
What do all children with Kawasaki’s disease need?
Urgent Echo To check for coronary artery aneurysms
638
When should the Hep B vaccine be given to babies born to Hep B positive mothers?
Birth
639
When should the BCG vaccine be given to babies born in TB prevalent areas?
Birth
640
When are the HiB and Men C vaccines given together?
12mths
641
At what stage are both the MMR and pneumococcal vaccine given together?
12 months
MMR - first dose
Pneumococcal - second dose
642
What does the 6 in 1 vaccine include and when are the doses given?
2, 3, 4 months
- Diptheria
- tetanus
- pertussis
- polio
- Hib
- Hep B
643
What condition is associated with bouts of coughing which may result in subsequent bronchopneumonia?
Bordatella pertussis. Treat with azithromycin if they qualify ie <21days etc.
644
How does a temporal lobe seizure present?
Lip smacking and unusual sensation in stomach. May also experience other sensory phenomenon, deja vu or jamais vu.
645
What type of seizure is common in first year of life and associated with flexion spasms typically every 10 seconds?
West’s syndrome
646
At what age should a child demonstrate palmar grasp?
3-6 months
647
At what age should a child demonstrate pincer grasp?
10-18months. Children should also be able to hold pencils and scribble at this age.
648
At what age should a child be able to hold a spoon and transfer food into the mouth?
14months - 2years
649
At what age should children demonstrate polysyllabic babbling?
6-10months. They should also be able to point to objects they want to play with.
650
At what age should a child build a tower of 3-4 bricks?
16-24months
651
Which tumour is associated with jerky eye movements and small blue-coloured lumps in the skin?
Neuroblastoma
652
Wilm’s tumour presents how and is associated with what chromosome abnormality?
Chromosome 11. Presents with abdominal mass and haematuria.
653
What tumour arises from Astrocytes and accounts for over 50% of all childhood brain tumours?
Glioma
654
Which murmur is associated with a harsh pan systolic murmur and splitting of the second heart sound?
VSD
655
What is associated with a loud continuous machinery murmur, best heard under the left clavicle? A collapsing pulse may also be felt.
Patient ductus arteriosus
656
What is associated with a slow rising pulse and an ejection systolic murmur at the apex?
Aortic stenosis
657
A four-year-old boy is reviewed by his GP. On examination there is evidence of white spots on a red coloured background within the boys mouth. What is the most likely diagnosis?
Measles. These are Koplik spots and are a precursor to the development of a rash which is maculopapular in nature.
658
Inflammation of the cerebellum resulting in subsequent ataxia can be caused by what childhood infection?
Chickenpox which is caused by varicella zoster
659
A four-year-old girl is reviewed by her GP who notices the presence of a white left people which does not react to light. What is the most likely diagnosis? How can it be treated?
Retinoblastoma. A tumour of photoreceptor cells associated with gene deletion on chromosome 13. Treatment involves cryotherapy or radiotherapy.
660
What is conjunctivitis mostly caused by and how should it be treated?
Most cases are viral so treated with salt water bathing. If bacterial treat with chloramphenicol eyedrops.
661
What conditions are associated with exomphalos?
Beckwith-Wiedemann syndrome
Down's syndrome
cardiac and kidney malformations
662
In newborns/infants <3mths old what are the causes of meningitis?
GBS
E coli
Listeria
663
In children 3mths-5yrs old what are the causes of meningitis?
Meningococcus
Pneumococcus
H influenzae
664
What Tx should be given to meningitis caused by E Coli?
Cefotaxime
665
What Tx should be given to meningitis caused by Pneumococcus or H influenzae?
Ceftriaxone
666
A 5yo undergoes a routine eye assessment. Slit lamp examination reveals the presence of an irregular right pupil + anterior chamber appears cloudy. What is the most likely diagnosis?
Iritis = anterior uveitis
- Need to treat with Abx
- Risk of glaucoma and cataracts
667
6yr is brought into A&E. Erythema around right eye, right eyed proptosis and reduced eye movements. What the diagnosis and how should it be treated?
Orbital cellulitis. Tx with IV Abx and urgent orbital CT.
668
4yo seen by GP and has excessive blinking/lacrimation of right eye. Boy also has difficulty looking at bright lights. What is diagnosis?
Glaucoma. Tx with surgery.
| Excessive blinking = blepharospasm
669
A child with low set ears, micrognathia, rocker bottom feet has what condition?
Edward's syndrome
670
When should you admit a child with croup?
Moderate or severe croup based on CKS guidelines (eg stridor at rest, wall recessions etc)
- <6mths of age
- Known upper airway abnormalities eg laryngomalacia or down's
- Uncertainty about diagnosis (important differentials include acute epiglottitis, bacterial tracheitis, peritonsillar abscess and foreign body inhalation)
671
What is a loss of function mutation on WT1 gene, chromosome 11 associated with?
Wilm's tumour
672
If there is any concern about baby, how often should APGAR scores be monitored?
APGAR scores are assessed at 1, 5 and 10 minutes of age
673
The most common cause of hypothyroidism in children (juvenile hypothyroidism) in the UK is?
Autoimmune thyroiditis
674
The most common cause of hypothyroidism in children (juvenile hypothyroidism) in the developing world is?
Iodine deficiency
675
What is the most useful investigation to screen for the complications of Kawasaki disease?
Echo - check for coronary artery aneurysms
676
Treatment of Kawasaki's disease
1) High-dose Aspirin (despite Reye's syndrome risk)
2) IVIG
3) Echocardiogram
677
What is the most common cause of acute epiglottitis in an unvaccinated child?
Haemophilus influenzae type B
| Now due to the HiB vaccine its commonly caused by Strep pneumoniae, Strep pyogenes, Staph aureus
678
Scaphoid abdomen in a child with displaced apex beat and decreased air entry
Congenital diaphragmatic hernia
679
In what conditions does malrotation occur in
Exomphalos
Congenital diaphragmatic hernia
Intrinsic duodenal atresia
680
Conditions associated with Hirschprung’s disease?
DS
Neurofibromatosis
MEN2
681
Gold standard for Hirschprung's diagnosis
Rectal biopsy
682
What investigation should be performed once a diagnosis of Kawasaki disease is made and why?
Echocardiogram at time of diagnosis and 6mths after
| - look for coronary artery aneurysms
683
Where should a pulse be taken in an infant vs child during life support?
Infant: brachial or femoral
Child: femoral
684
Risk factors for more severe bronchiolitis
Bronchopulmonary dysplasia
Cystic fibrosis
Congenital heart disease
685
Treatment of kawasaki disease
IVIG
| Aspirin (one of only times in childhood you give due to risk of Reye's syndrome)
686
Treatment of UTI children
<3mths: admit and IV Abx
| >3mths: 1st line trimethoprim, 2nd line: nitrofurantoin, amoxicillin, cefalxein
687
How should children with HSP be monitored long term and why?
Weekly (1-4wks): BP, Urine dipstick
Weekly (5-12wks): fortnightly review BP/Urine dipstick
Month 6 and 12: BP, urine dip
Checking for long term renal damage
688
3-5 day high fever followed by a 2 day maculopapular rash which starts on the chest and spreads to the limbs is suggestive of what diagnosis?
Sixth disease ie Roseola infantum (rash generally occurs as the fever is disappearing)
