Paeds endo, musc, neuro, misc Flashcards
1
Q
What is the most common cause of CAH?
A
21-hydroxylase deficiency
2
Q
Recall the signs and symptoms of CAH
A
Virilisation of external genitalia
Salt-losing crisis
Tall stature
3
Q
What is the best initial investigation to do when there are ambiguous genitalia?
A
USS
4
Q
What is the confirmatory investigation used to diagnose CAH?
A
Raised plasma 17-alpha-hydroxyprogesterone - cannot do in a newborn
5
Q
What sodium and potassium levels are seen in a salt losing crisis?
A
Hyponatraemia, hyperkalaemia
6
Q
What is the surgical management option for CAH?
A
For girls there is corrective surgery at early puberty to make the genitalia look more female
7
Q
What is the medical management for CAH?
A
Lifelong hydrocortisone and fludrocortisone
8
Q
How should a salt-losing crisis be managed?
A
IV hydrocortisone, IV saline, IV dextrose
9
Q
What is the ‘classical triad’ of symptoms in DM?
A
Polydipsia, polyuria, weight loss
10
Q
Recall the diagnostic criteria for DM
A
- Symptoms + fasting >7 OR random >11.1
- No symptoms + fatsing >7 AND random >11.1
- No symptoms + OGTT >11.1
- HbA1c > 6.5%
11
Q
What OGTT result is considered ‘impaired’ glucose tolerance?
A
7.8-11.1
12
Q
What fasting glucose result is considered ‘impaired’ glucose tolerance?
A
6.1-7.0
13
Q
Recall the 1st and 2nd line options for insulin therapy
A
1st line = multiple daily injection basal-bolus: injections of short-acting insulin before meals, with 1 or more separate daily injections of intermediate acting insulin or long acting insulin analogue
2nd line = continuous SC insulin infusion (pump)
14
Q
Recall the names of 2 types of long acting insulin
A
Glargine, determir
15
Q
Recall the names of 3 types of short acting insulin
A
Lispro, apart, glulisine
16
Q
Why should site of SC insulin injection be regularly rotated in T1DM?
A
Avoidance of lipohypertrophy
17
Q
What should cap glucose be when fasting and after meals?
A
Fasting: 4-7
After meals: 5-9
18
Q
When does annual monitoring for retinopathy/ nephropathy/ neuropathy begin?
A
12 years
19
Q
How is DKA managed?
A
- Replace fluids: deficit + maintenance requirement
Deficit volume = weight in kg x 10 x 5% for mild-mod DKA, or 10% for severe DKA
Maintenance volume = LOWER for DKA, due to risk of cerebral oedema
<10kg = 2mls/kg/hr
10-40kg = 1ml/kg/hr
40+kg = 40mls/hr - After 1-2 hours, start insulin therapy - infuse at 0.05-0.1 units/kg/hour
20
Q
What are the symptoms of HHS?
A
Weakness, leg cramps, visual disturbances
N+V
MASSIVE DEHYDRATION
Focal neurology
21
Q
What is the best option for oral monotherapy in T2DM?
A
Metformin (biguanide)
22
Q
What medications can be added for tx-resistant T2DM?
A
Sulphonylureas (eg glibenclamide)
Alpha-glucosidase inhibitors (eg acarbose)
23
Q
Recall the 2 possible biochemical definitions of DKA
A
- Acidosis + bicarb <15
2. pH <7.3 + ketones >3
24
Q
How is DKA biochemically classified as mild/ mod/ severe?
A
Mild = pH <7.3, mod = <7.2. sev = <7.1
25
Recall the volume of fluid resus needed in a DKA emergency?
If shocked: 20mls/kg bolus over 15 mins
If not shocked: 10mls/kg bolus over 60 mins
26
How should fluids be replaced following the initial emergency in DKA?
Fluid deficit = 5% if mild-mod DKA, 10% if severe DKA
Deficit volume = weight x 10 x deficit%
Fluid maintenance in DKA specifically:
<10kg: 2mls/kg/hour
10-40kg: 1ml/kg/hour
40+kg: 40mls/kg/hour
27
What is the maintenance requirement of fluids in non-DKA situations?
First 10kg = 100mls/kg/day (4mls/kg/hour)
Next 10kg = +50mls/kg/day (2mls/kg/hour)
Every kg above 20kg = +20mls/kg/day (1ml/kg/hour)
28
Recall the % fluid deficit that correlates to each severity of DKA
```
Mild = 5%
Mod = 7%
Sev = 10%
```
29
Calculate the fluid requirement of a 20kg boy in DKA, with pH 7.15, who has already received a 10ml/kg bolus (200ml) over 60 mins
Calculation: (deficit x weight x 10) - initial, "shocked" bolus over 48 hours
Deficit if pH = 7.15 = 5% (7 x 20 x 10) = 1000
Initial bolus - 200: 1400-200 = 1200 over 48 hours
1200/48 = 25mls/ hour
Maintenance = (10 x 100) + (10 x 50) = 1500mls over 24 hours
30
When should insulin therapy be started in DKA?
After 1-2 hours of IV fluid replacement
31
How should insulin dose be calculated?
0.05-0.1 units/ kg/ hour
32
When should dextrose therapy be started in DKA?
When glucose is <14mmol/L
33
Recall 2 important possible complications of DKA with their symptoms
Cerebral odoema: Cushing's triad of raised ICP (bradycarida, HTN, irregular breathing)
Hypokalaemia (typically asymptomatic)
34
What is the most common cause of delayed puberty in boys?
CDGP (constitutional delay of growth and puberty)
35
Recall the parameters for referral in growth restriction
If >75th centile, only refer once it drops by >=3 centiles
If 25th-75th centile, only refer once it drops by >=2 centiles
If <25th centile, refer once centile drops by >=1 centiles
36
What is the definition of delayed puberty in males and females?
Males: no testicular development (<4mL) by age of 14 years
Females: no breast development by age 13 years or no period by age 15
37
Recall 3 causes of Constitutional Delay of Growth and Puberty
Chronic disease
Malnutrition
Psychiatric (eg depression/ AN)
38
Recall some causes of hypogonadotrophic hypogonadism
Hypothalamopituitary disorders: panhypopituitarism, intercranial tumours
Kallman's syndrome, PWS
Hypothyroidism (acquired)
39
Recall some causes of hypergonadotrophic hypogonadism (high LH ad FSH)
Congenital: cryptochidism (absence of 1 or both testes from scrotum), Kleinfelter's, Turner's
Acquired: testicular torsion, chemotherapy, infection, trauma, AI
40
How can delayed puberty be staged in boys vs girls?
Boys: Prader's orchidometer
Girls: Tanner's staging
41
What non-gonadotrophin hormones are important to measure as part of initial investigation of delayed puberty?
TSH
| Prolactin
42
Recall 2 important imaging tests that may be done in investigation of delayed puberty?
```
Bone age (from wrist x ray)
MRI brain
```
43
How should CDGP be managed?
1st line: reassure and offer observation - they have a fantastic prognosis
2nd line: short course of sex hormone therapy
Boys: IM testosterone (every 6 weeks for 6 months)
Girls: transdermal oestrogen (6 months) and cyclical progesterone once established
44
How should primary testicular/ ovarian failure be treated?
Boys: regular testosterone injections
Girls: oestrogen replacement gradually
45
What are the age parameters for 'early normal' vs precocious puberty?
Early normal: girls = 8-10, boys = 9-12
Precocious: girls = <8, boys = <9
46
What are the different causes of gonadotrophin-dependent vs gonadotrophin-independent precocious puberty?
Gonadtrophin-DEPENDENT: often idiopathic, but may be due to CNS tumours
Gonadotrophin-INDEPENDENT: gonadal activation independent of HPG- may be due to ovarian (folllicular cyst, granuloma cell tumour, Leydig cell tuour, gonadoblastoma), or testicular pathology
47
What is premature thelarce?
Isolated breast development before 8 years
48
What does BL enlargement of the testicles indicate before puberty?
Gonadotrophin-dependent precocious puberty (intercranial lesion, ie optic glioma in NF1)
49
What does UL enlargement of a testicle indicate pre-puberty?
Gonadal tumour
50
What does small testes and precocious puberty indicate?
Tumour of CAH (adrenal cause)
51
What is the gold standard investigation for precocious puberty?
GnRH stimulation test
52
If CAH is suspected, what test should be done?
Urinary 17-OH progesterone
53
What is the medical treatment for precocious puberty?
GnRH agonist + GH therapy if gonadotrophin-dependent
If gonadotrophin-independent: -
Testotoxicosis: ketoconazole/ cyproterone
CAH: hydrocortisone + GnRH agonist
54
What are the 2 most common causes of dwarfism?
Achondroplasia
Hypochondroplasia
55
What is the phenotype of achondroplasia?
Arms and legs short, normal length thorax
56
What is the phenotype of hypochondroplasia
Small stature, micromelia (small extremities), large head
57
What gene mutation is associated with achondroplasia and hypochondroplasia?
FGFR3 - autosomal dominant mutation
58
Recall some signs and symptoms of osteogenesis imperfecta
Blue sclera, short stature, loose joints, hearing loss, breathing problems
59
Other than short stature, what are the symptoms of achondroplasia?
Hydrocephalus, depression of nasal bridge, marked lumbar lordosis, trident hands
60
What X ray findings may be present in achondroplasia?
Chevron deformity: metaphyseal irregularity
Flaring in long bones
61
Recall 4 possible causes of cogenital hypothyroidism, and whether they are inherited or not
Thyroid gland defects (eg missing, ectopic) - not inherited
Disorder of thyroid hormone metabolism - inherited
Hypothalamopituitary dysfunction (eg tumours, ischaemic damage) - not inherited
Transient hypothyroidism (eg due to maternal carbimazole or Hashimotos, not inherited)
62
Recall some signs and symptoms of congenital hypothyroidism including 3 unique symptoms
Unique: coarse features, macroglossia, umbilical hernia
Others: large fontanelles, low temp, jaundice, hypotonia, pleural effusion, short stature, oedema, etc
63
How should congenital hypothyroidism be investigated and treated in an infant?
Pretty much the same as an adult
64
What is the most common cause of acquired primary hypothyroidism?
Hashimoto's autoimmune thyroiditis
65
Recall 2 genetic risk factors for hashimoto's thyroiditis?
Down's, Turner's
66
What is the prognosis of growth for children with primary hypothyroidism?
Dw they can catch up :-)
67
What are the signs and symptoms of hyperthyroidism in the foetus?
High CTG trace and foetal goitre on USS
68
What are the signs and symptoms of hyperthyroidism in the neonate?
Same as adult
69
What is the medical management of hyperthyroidism?
Carbimazole/ propothiouracil for 2 years
70
What non-medical management options are there for hyperthyroidism in children?
Radioiodine treatment
| Surgery
71
How is severe obesity, obesity and overweightness defined in children?
Severely obese: 99th centile
Obese: >95th centile
Overweight: 85th-94th centile
72
What causes impaired skeletal growth in rickets?
Inadequate mineralisation of bone laid down at the epiphyseal growth plates
73
Recall 3 deficiencies that can cause rickets?
Calcium
Vit D
Phosphate
74
What will an x ray show in Rickets?
Thickened and widened epiphysis
Cupping metaphysis
Bowing diaphysis
75
What will be the biochemical picture in rickets?
Reduced calcium and phosphate
Raised
Diagnostic = calcium x phosphate <2.4
76
How can rickets be treated?
Calcium supplements
| Oral vitamin D2
77
What are the most common causes of fracture in a neonate?
Clavicle - from shoulder dystocia
| Humerus/ femur - from breech delivery
78
What is the prognosis for neonatal fracture?
Great
79
How old does a child have to be prescribed codeine and morphine?
16
80
How should paediatric fractures be managed?
Pain management
| Manipulation and reduction
81
How old does a child need to be to get a intramedullary nail?
4
82
What is the Ottawa ankle rule?
X ray only indicated if:
- Pain in the malleolar zone AND bone tenderness at the posterior edge/ tip of the lateral malleolus OR
- Pain in the malleolar zone AND bone tenderness at the posterior edge/ tip of the MEDIAL malleolus OR
- An inability to bear weight both immediately and in the emergency department for four steps
83
What is the Ottawa knee rule?
X ray only indicated if: age 55+ OR isolated patellar tenderness OR cannot flex to 90 degrees OR an inability to bear weight both immediately and in the ED for 4 steps
84
What is Perthe's disease?
Avascular necrosis of the femoral epiphysis from an interruption of blood supply, followed by revascularisation and reossification over 18-36 months
85
In which age group/ gender is Perthe's most common?
4-8 y/o boys
86
Recall the signs and symptoms of Perthe's
Insidious presentation: limp, knee pain, hip pain --> limb shortening
87
What investigations should be done for Perthes?
X ray +/- MRI
Roll test
88
What would an x ray show in Perthe's disease?
Increased density of femoral head
89
What is the roll test?
Patient supine, roll affected hip internally and externally --> guarding or spasm in Perthe's
90
How is Perthe's managed?
Simple analgesia for pain management<6 years: observation - non-surgical containment using splints>6 years --> surgery
91
What is Osgood Shlatter Disease?
Osteochondritis (inflammation of the cartilage/ bone) of the patellar tendon insertion at the knee
92
Recall the most at-risk group for OSD?
10-15y who are physically active
93
Recall the signs and symptoms of OSD?
Gradual onset knee pain after exercise that is relieved by rest
Localised tenderness and swelling over tibial tuberosity
Hamstring tightness
94
What might be seen on X ray in OSD?
Fragmentation of the tibial tubercle and overlying soft tissue swelling
95
How should OSD be managed?
Simple analgesic packs (intermittent)
Protective knee pads
Stretching
Reassure - this will resolve over time, but may persist until end of growth spurt
Advise stopping/ reducing all sporting activity
96
What is chondromalacia patellae?
Anterior knee pain from degeneration of articular cartilage on posterior surface of patella
97
What is the general cause of chondromalacia patellae?
Overuse in physical activity
98
Recall the signs and symptoms of chondromalacia patellae
Anterior knee pain - exacerbated by movement --> painless passive movement but pain and grating sensation on repeated extension
99
How should chondromalacia patellae be managed?
Physio
100
What is osteochondritis dissecans?
Reduced blood flow causing cracks to form in the articular cartilage and subchondral bone --> avascular necrosis --> fragmentation of bone and cartilage with free movement of fragments --> activity related joint pain
101
Recall the signs and symptoms of osteochondritis dissecans?
Pain after exercise - catching, locking and giving way
102
What is osteomyelitis?
Infection of metaphysis of long bones, commonly the distal femur and proximal tibia
103
What is the most common pathogen implicated in osteomyelitis?
Staph aureus
104
What is the most common age group affected by osteomyelitis?
<5 years
105
How does the presentation of osteomyelitis compare to the presentation of septic arthritis?
Usually chronic in onset and less severe than septic arthritis (over a week rather than a day)
106
Recall the signs and symptoms of osteomyelitis?
Fever
| Acute onset limb pain, immobile limb, skin swollen, tender and erythematous
107
What investigations should be done for suspected osteomyelitis?
Septic screen
BCs and FBC
Joint aspiration and MC+S
XR --> MRI of joint (shows soft tissue)
108
How should acute osteomyelitis be managed?
High dose IV empirical --> narrow spec Abx
1st line is flucloxacillin
Take BCs before staring IV Abx
Change to oral Abx as soon as CRP is back to normal
Surgical debridement may be necessary
109
What is septic arthritis?
Infectious arthritis of the synovial joint (vs osteomyelitis of bone)
110
Which joint is affected in 75% of cases of septic arthritis?
Hip
111
What is the usual pathogen implicated in septic arthritis?
S aureus
112
Recall the signs and symptoms of septic arthritis
Single joint warm, erythematous, tender, reduced range of movement, infants will hold the limb still
113
What investigations should be done for septic arthritis?
```
SAME AS OSTEOMYELITIS
Septic screen
BCs and FBC
Joint aspiration and MC+S
XR --> MRI of joint (shows soft tissue)
```
114
How should septic arthritis be managed?
Similar to osteomyelitis but not the same
IV flucloxacillin --> oral
Joint wash out and aspirated to dryness PRN
115
What is Still's disease?
Persistent joint swelling presenting before 16 years, in the absence of infection/ other defined cause
116
What are the signs and symptoms of Still's?
```
May be any number of joints
Gelling (stiffness after periods of rest)
Intermittent limp
Morning joint stiffness/ pain
Limited movement
```
117
Recall some late signs of Still's
Inflammation and bone expansion --> 'knock knees'
| Salmon-coloured rash (pathogenomic of systemic Still's)
118
What investigations should be done in suspected Still's?
Clinical diagnosis mainly
Bloods + imaging to prove classification and prognostic info
ANA, FBC, RhF, CRP/ESR, anti-CCP
USS/ MRI
119
How should Still's be managed?
```
MDT rheuatology
NSAIDs
Corticosteroids (high to low dose)
DMARDs - if disease fails to respond to conventional treatments - methotrexate or sulfalazine
TNF alpha inhibitors if needed
```
120
What is the prognosis for Still's disease?
Most children can expect good disease control and quality of life
If poor disease control --> anterior uveitis and fractures
121
What is the former name of reactive arthritis?
Reiter's syndrome
122
What are the most likely causative organisms in reactive arthritis?
Enteric bacteria - salmonella, shigella, campylobacter, yersinia
123
Recall the signs and symptoms of reactive arthritis
Transient joint swelling (<6 weeks) following an extra-articular infection
Low grade fever
124
Which joints are most typically affected by reactive arthritis?
Ankles/ knees
125
What investigations should be done in suspected reactive arthritis?
A diagnosis of exclusion as no positive findings
Bloods (CRP normal or mildly elevated)
Normal XR
126
How should reactive arthritis be managed?
Self-limting, NSAIDs will do for analgesia
127
What is SUFE?
Displacement of epiphysis of femoral head posteroinferiorly
128
Why does SUFE need prompt treatment?
To prevent avascular necrosis
129
What age group is usually affected by SUFE?
10-15 years
130
What is the biggest RF for SUFE?
Obesity
131
What are the signs and symptoms of SUFE?
Limp/ hip pain +/- referred to the knee
Insidious or acute onset
"Loss of internal rotation of a flexed hip"
Trendelenburg gait positive
132
What investigations should be done in suspected SUFE?
Hip XR in AP and frog-lateral view (both hips)
133
How should SUFE be managed?
Analgesia, bed-bound
| Surgical internal fixation at growth plate
134
What is transient synovitis?
Irritable hip - 3-10 years
135
What age group is affected by transient synovitis?
3-10 years
136
What is a red flag for urgent hospital assesment in transient synovitis?
Age <3 with an acute limp
137
What is the cause of transient synovitis?
Viral infection (so causes a low grade fever)
138
How should transient synovitis be investigated and managed
Clinically - it is self-limiting
139
What is DDH?
A spectrum of conditions affecting proximal femur and acetabulum - ranging from subluxation to frank dislocation
140
What is true DDH?
Femoral head has a persistently abnormal relationship with the acetabulum--> abnormal bony development, premature arthritis and significant disability
141
What are the 2 manoevres that are key to early detection of DDH?
Barlow - dislocate posteriorly out of the hip
Ortolani - relocate back into acetabulum on hip abduction
142
What is the biggest RF for DDH?
Female
143
Recall the signs and symptoms of DDH
Limp/ abnormal
Delayed crawling/ walking - toe-walking
Asymmetrical skin folds
Limb length discrepancy
144
What age group are the Barlow and Ortolani manoevres appropriate for?
<6 months
145
What other investigation can be done alongside B and O manoevres in suspected DDH?
USS
146
What investigation should be done in children too old for B and O manoevres?
X ray
147
What are the indications for USS neonatally regardless of presentation, and when is this USS done?
Born breech OR FHx pos of DDH
| Done at 6 weeks
148
How should DDH be managed in the newborn?
```
Pavlik harness (most will resolve spontaneously by 3-6w of age)
This keeps hips flexed and abducted
```
149
How should DDH be managed in those >6 months old?
Surgery if conservative measures fail or there is no progress with harness
150
What is a reflex anoxic seizure?
Episodes of tonic clonic fitting due to cardiac asystole secondary to vagal inhibition
151
What are the causes of reflex anoxic seizure?
Can be triggered by pain, head trauma, cold food (ice cream), fright, fever
152
What is a febrile convulsion?
A seizure and fever in the absence of intracranial infection
153
What is the age group that can be affected by febrile convulsions?
6m to 3y
154
What are the signs and symptoms of febrile convulsions?
Generalised tonic clonic seizure on background of fever
155
What is the difference between a simple and complex febrile seizure?
Simple: do not cause brain damage and no increased risk of epilepsy
Complex: focal, <15 mins, repeated in same illness, increased risk of subsequent epilepsy
156
What investigations should be done following a febrile seizure?
Identify and manage the cause of fever
No other main investigations (don't do an EEG)
May potentially want to screen for meningitis/ encephalitis, do a urine MC+S and blood glucose
157
How should febrile convulsion be managed during the seizure?
Protect from injury and do not restrain
If seizure lasts <5 minutes do nothing
If seizure lasts >5 mins and no drugs are available, call an ambulance
If drugs are available: after 5 mins administer PR diazepam OR buccal midazolam
158
When should an ambulance be called for febrile convulsion?
1st seizure - of any duration or cause
Seizure lasts >5 mins with no drugs
Breathing difficuties
159
Which children should be admitted to hospital following a febrile convulsion?
First febrile seizure<18 months old
Diagnostic uncertainty about the cause
Complex febrile seizure
Currently on Abx
160
What system is used to classify seizures?
International League Against Epilepsy 2017
161
What is the correct name for an absence seizure these days?
Generalised non-motor seizure
162
What is the difference in symptoms between tonic-clonic and myoclonic?
Tonic clonic is the big one with violent muscle contractions, eyes rollingback, tongue biting, incontinence and both aura and post-ictal phenomena
Myoclonic = brief arrhythmic muscular jerking movement
163
What is the most common form of childhood epilepsy?
Benign Rolandic Epilepsy - myoclonic seizures in a 3-12 year old
164
What are the 3 different types of myoclonic epilepsy
Benign rolandic (3-12y)
Juvenile myoclonic epilepsy (12-18y)
Progressive myoclonic epilepsy
165
What is the other name for benign rolandic seizures?
Sylvian seizures
166
What are the signs and symptoms of benign rolandic epilepsy?
Myoclonic seizures during sleep involving face and UL with hypersalivation
167
What are the signs and symptoms of juvenile myoclonic epilepsy?
Myoclonic seizures involving upper body just after waking up and beginning after puberty
168
What is progressive myoclonic epilepsy?
Rare syndromes of combination of myoclonc and tonic-clonic seizures, with patient deteriorating over time
169
For what type of epilepsy is treatment not usually given?
Benign Rolandic Epilepsy
170
What type of antiepileptic actually exacerbates myoclonic seizures?
Lamotrigine
171
What type of antiepileptic actually exacerbates absence seizures?
Carbamazapine
172
What is the 1st line for rescue therapy for prolonged epileptic seizures?
Buccal midazolam
173
Which antiepleptic drug requires monitoring?
Carbamazapine
174
After how long seizure-free can antiepileptic therapy be stopped?
2 years
175
Recall 2 Side effects of valporate
Weight gain, hair loss
176
How is status epilepticus defined?
1 seizure lasting >5 mins OR
>2 seizures within a 5 min period without the person returning to normal between them 1 febrile seizures lasting >30 mins
177
What is the age range of peak incidence for infantile spasm?
3-8 months
178
What is an infantile spasm?
Sudden, rapid, tonic contraction of trunk and limb muscles with gradual relaxation over 0.5-2 seconds
179
What is a 'Salaam' attack?
Head goes down and arms go up in the air
180
How should West Syndrome be investigated?
EEG - shows hypoarrhythmias
181
What is the prognosis for West syndrome?
Poor
182
How should West syndrome be managed?
Vigabatrin or corticosteroids
183
What investigations should be done for vasovagal syncope?
Lying and standing BP with ECG if indicated
FBC (to query anaemia/ bleeding)
184
What are the indications for CT head in children?
```
Head injury + at least 1 of:
- suspected NAI
- post-traumatic seizure
- GCS <14
- Suspected skull fracture
- Focal neurology
OR
2 other risk factors
(LOC >5 mins, abnormal drowsiness, >3 episodes of vomiting, high-impact injury, amnesia > 5 mins)
```
185
Give 2 signs of tear of the MMA
Battle sign
| Racoon eyes
186
What are the signs and symptoms of extradural haemorrhage?
Lucid interval followed by deterioration
| Potential focal neurology
187
How should extradural haemorrhage be managed?
Fluid resuscitation to correct hypovolaemia
| Evacuation of haematoma and arrest bleeding
188
What is the cause of subdural haemorrhage?
Tear in vein as it crosses subdural space
189
What is the main symptom of subdural?
Gradually decreasing GCS
190
What is often the cause of subdural in infants?
NAI
191
Which infants are most at risk of intraventricular haemorrhage?
Premature babies due to VLBW
192
What are the 2 main causes of intraventricular haemorrhage in infants?
ECMO in preterm babies with ARDS
Congenital CMV infection
ECMO = extracorporeal membrane oxygenation
193
Recall the signs and symptoms of intraventricular haemorrhage
Sleepiness and lethargy, apnoea, reduced
| Moro reflex, low tone, tense fontanelle
194
Which investigation is used to diagnose intraventricular haemorrhage in a baby?
Trans-fontanelle USS
195
How should intraventricular haemorrhage be treated in a baby?
Fluids
Anticonvulsant
Acetazolamide (to reduce CSF) and LP
Ventriculo-peritoneal shunt if hydrocephalus
196
What is the difference between communicating and non-communicating hydrocephalus?
Communicatig: CSF flow obstructed after it enters the ventricles
Non-communicating: flow of CSF is obstructed WITHIN the ventricles
197
What are the 2 causes of communicating hydrocephalus?
Meningitis
| SAH
198
What are the possible causes of non-communicating hydrocephalus?
Aqueduct stenosis:
Congenital causes: Dandy-Walker malformation or Chiari malformation
Acquired: IVH/ tumour
199
What is the sunset sign?
Eyes appear to be driven down bilaterally - sign of raised ICP
200
What are the 2 key investigations for hydrocephalus?
Cranial USS
| Measurement of head circumference
201
What is the first line management for hydrocephalus?
Ventriculoperitoneal shunt
202
What is the second line management for hydrocephalus?
Furosemide - to inhibit CSF production
203
What % of migraines have aura?
10%
204
Is migraine likely to be UL or BL?
Could be either
205
What are the symptoms of cluster headaches?
UL (eyes/ side of face) sharp throbbing pain, causing swelling/ watering inclusters
206
What are some signs that migraine is secondary to something more sinister?
Visual field defects, gait or cranial nerve abnormalities, growth failure, papilloedema, early morning headache
207
If simple analgesia doesn't work, what is the 2nd line pain med in migraines?
Nasal sumatriptan
208
Recall 2 prophylactic medications for migraine
Topiramate
| Propranolol
209
What is Tourette's?
Chronic and multiple tics - starting before 18y old and persisting >1 year
210
What are the 3 types of tic?
Motor, vocal or phonic
211
Recall 2 therapies that are useful in tics
1. Habit reversal therapy (learn movements to 'compete' with tics)
2. Exposure with response prevention - help the child get used to the unpleasant feeling before a tic so that they can stop the tic occuring
212
What is the first line medication for tic disorder?
Antipsychotics - eg risperidone
213
What is the inheritance pattern of Duchenne muscular dystrophy?
x-linked recessive
214
At what age does duchenne muscular dystrophy present, and at what age can it be diagnosed?
1-3y presentation
| Can be diagnosed at 5y
215
Which gene is deleted in Duchenne muscular dystrophy?
Dystrophin
216
Describe the pathophysiology of duchenne muscular dystrophy?
Dystophin gene connects cytoskeleton to muscle fibres to ECM through membrane
Where deficient --> influx of Ca --> calmodulin breakdown --> excess free radicals --> myofibre necrosis
217
What type of gait is seen in Duchenne muscular dystrophy?
Waddling
218
Other than gait, what else is affected in early DMD?
Language delay
219
What is Gower's sign?
The need to turn prone to rise - seen in DMD
220
How is the heart affected by Duchenne muscular dystrophy?
Primary dilated cardiomyopathy
221
What is elevated in the plasma in Duchenne muscular dystrophy?
CKP (creatine phosphokinase) due to myofibre necrosis
222
How should Duchenne muscular dystrophy be managed?
No cure - often management is to alleviate the symptoms
Physiotherapy to clear lungs and exercise to help prevent contractures
Medical:
- CPAP (due to weakness of intercostals)
- Glucocorticoids (to delay need for wheelchair)
- Cardioprotective drugs
223
What is the difference between Beck's MD and DMD?
Same signs and symptoms but often less severe and progresses at a slower rate
224
What is the genetic cause of myotonic muscular dystrophy?
Autosomal dominant trinucleotide repeat disorder
225
When does myotonic muscular dystrophy present?
20s to 30s
226
In what way is myotonic muscular dystrophy the reverse of duchenne muscular dystrophy?
It affects small muscles more than large muscles
227
Which form of MEN is NF1 associated with?
MEN2
228
Recall some signs and symptoms of NF1
Café au lait spots
Neurofibroma
Axillary freckles
Lisch nodule
229
What is tuberous sclerosis?
Rare genetic condition that causes mainly benign tumours to develop in different parts of the body
230
Recall 3 cutaneous features of tuberous sclerosis
"Ash leaf" patch
Shagreen patches (rough skin on lumbar spine)
Angiofibromata (butterfly facial distribution)
231
Recall some neurological features of tuberous sclerosis
Infantile spasms
Focal epilepsy
Intellectual disability (often with ASD)
232
Why is there a risk of hydrocephalus in tuberous sclerosis?
Development of subependymal giant cell astrocytoma
233
Which investigations are useful for diagnosing tuberous sclerosis?
CT/ MRI
234
What is the layman's term for the haemangioma in Sturge Weber syndrome?
Port wine stain
235
Where does the haemangiomatous facial lesion present in Sturge Weber Syndrome?
Trigeminal nerve distribution
236
Recall some signs and symptoms of Sturge Weber Syndrome
```
Epilepsy
Contralateral hemiplegia
Phaeochromocytoma
Intellectual disability
Glaucoma
```
237
How should Sturge Weber Syndrome diagnosis be confirmed?
MRI
238
What are the 3 symptoms that may present via somatisation?
Abdo pain
Reucrrent headaches
Limb pain
239
What is Apley's rule?
The further the pain is from the umbilicus, the more likely the pain is of an organic nature
240
What is the 1st line management for somatisation?
Promote communication between family and children
| Pain-coping skills ie relaxation techniques for headaches
241
What should be done if 1st line treatments for somatisation fail?
Referral to CAMHS
242
Which type of developmental delay has the best prognosis?
Isolated delay (global has association with syndromes that have poorer prognosis)
243
How does the aetiology of conjunctivitis differ between children and adults?
In adults is usually viral or allergic, in children is more likely to be bacterial
244
What is the most likely cause of sticky eyes in a <48 hours neonate?
Gonorrhoea
245
What is the most likely cause of sticky eyes in a neonate in first 1-2w?
Chlamydia - often co-presents with pneumonia
246
How should neonatal gonorrhoeal infection be investigated and treated?
Gram stain and culture
| 3rd gen cephalosporin (eg ceftriaxone)
247
How should neonatal chlamydia infection be investigated and treated?
Immunofluorescent staining
| Oral erythromycin
248
Which is more common in children out of hypermetropia and myopia?
Hypermetropia
249
What is the cause of Retinopathy of Prematurity?
Vascular proliferation leads to retinal detachment --> fibrosis and blindness
250
What is the main RF for retinopathy of prematurity?
Uncontrolled use of high concentrations of oxygen
251
What are the 2 key signs of retinopathy of prematurity?
Unusual eye movements
| White pupils
252
What is the first line treatment of retinopathy of prematurity?
Laser photocoagulation
253
What is strabismus?
Abnormal alignment of eyes
254
At what age is strabismus diagnosed?
1-4 years
255
What are the 2 types of strabismus?
Non-paralytic (refractive error in one or more eyes)
| Paralytic (squinting eye could be caused by motor nerve paralysis or SOL - 3rd nerve palsy)
256
How should strabismus be managed?
1st line = glasses
2nd line = eye patching
3rd line = eye drops
4th line = eye muscle surgery
257
Which burn pattern is typical of NAI?
Glove and stocking
258
Which type of long bone fracture is indicative of NAI?
Spiral fractures
259
What is the classic triad of features in shaken-baby syndrome?
1. Retinal haemorrhages
2. CT showing brain swelling/ encephalopathy
3. CT showing subdural haematoma
260
What needs to be ruled out in suspected NAI?
Leukaemia, ITP and haemophilia
261
What is the definition of SIDS?
Deaths which remain unexplained after a post-mortem
262
What is the peak age for SIDS?
2-4 months
263
Recall some important risk factors for SIDS
Front-sleeping baby
| Prematurity, LBW, male, maternal smoking, microenvironment (pillow, heat)
264
For how long should parents share a room with baby?
6 months
265
Which organisation provides support for SIDS?
Lullaby Trust
266
For how long should a child be excluded from school if they have scarlet fever?
24 hours after antibiotics
267
For how long should a child be excluded from school if they have whooping cough?
48 hours after Abx
268
For how long should a child be excluded from school if they have measles?
4 days from onset of rash
269
For how long should a child be excluded from school if they have rubella?
4 days from onset of rash
270
For how long should a child be excluded from school if they have chickenpox?
Until all lesions crusted over
271
For how long should a child be excluded from school if they have impetigo?
Until all lesions crusted over
272
For how long should a child be excluded from school if they have mumps?
5 days from onset of swollen glands
273
For how long should a child be excluded from school if they have influenza?
Until recovered
274
When do fontanelle close by?
1 year usually, can be as late as 2
275
What should be given before buccal midazolam in a fitting child?
Oxygen
276
What infections are children with DiGeorge syndrome particularly at risk of and why?
Candidiasis
| No thymus --> no T cells
277
Give 2 causes of evanescent salmon pink rash
Listeriosis (neonate)
| Juvenile idiopathic arthritis
278
Why shouldn't metoclopramide be given to children?
Can give oculogyric crises
279
Recall 3 conditions that cause rigors in children?
Pyelonephritis
Influenza
Malaria
280
How should burns be managed medically?
Cover for potential toxic shock syndrome with ceftriaxone and clindamycin
281
How can the % of Total Burn Surface Area be measured OE?
Hand is 1% as a rough guide
282
Recall the 5 points of the Fraser guidelines
1. YP understands professional's advice
2. YP cannot be persuaded to inform parents
3. YP is likely to begin/ continue having sex regardless of contraception
4. Physical/ mental wellbeing likely to suffer from lack of contraception
5. YP's BI require them
283
What % of children who have a febrile convulsion will have one again?
33-50%
