Flashcards in Paeds endo, musc, neuro, misc Deck (283)
What is the most common cause of CAH?
Recall the signs and symptoms of CAH
Virilisation of external genitalia
What is the best initial investigation to do when there are ambiguous genitalia?
What is the confirmatory investigation used to diagnose CAH?
Raised plasma 17-alpha-hydroxyprogesterone - cannot do in a newborn
What sodium and potassium levels are seen in a salt losing crisis?
What is the surgical management option for CAH?
For girls there is corrective surgery at early puberty to make the genitalia look more female
What is the medical management for CAH?
Lifelong hydrocortisone and fludrocortisone
How should a salt-losing crisis be managed?
IV hydrocortisone, IV saline, IV dextrose
What is the 'classical triad' of symptoms in DM?
Polydipsia, polyuria, weight loss
Recall the diagnostic criteria for DM
1. Symptoms + fasting >7 OR random >11.1
2. No symptoms + fatsing >7 AND random >11.1
3. No symptoms + OGTT >11.1
4. HbA1c > 6.5%
What OGTT result is considered 'impaired' glucose tolerance?
What fasting glucose result is considered 'impaired' glucose tolerance?
Recall the 1st and 2nd line options for insulin therapy
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)
Recall the names of 2 types of long acting insulin
Recall the names of 3 types of short acting insulin
Lispro, apart, glulisine
Why should site of SC insulin injection be regularly rotated in T1DM?
Avoidance of lipohypertrophy
What should cap glucose be when fasting and after meals?
After meals: 5-9
When does annual monitoring for retinopathy/ nephropathy/ neuropathy begin?
How is DKA managed?
1. 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
2. After 1-2 hours, start insulin therapy - infuse at 0.05-0.1 units/kg/hour
What are the symptoms of HHS?
Weakness, leg cramps, visual disturbances
What is the best option for oral monotherapy in T2DM?
What medications can be added for tx-resistant T2DM?
Sulphonylureas (eg glibenclamide)
Alpha-glucosidase inhibitors (eg acarbose)
Recall the 2 possible biochemical definitions of DKA
1. Acidosis + bicarb <15
2. pH <7.3 + ketones >3
How is DKA biochemically classified as mild/ mod/ severe?
Mild = pH <7.3, mod = <7.2. sev = <7.1
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
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:
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)
Recall the % fluid deficit that correlates to each severity of DKA
Mild = 5%
Mod = 7%
Sev = 10%
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
When should insulin therapy be started in DKA?
After 1-2 hours of IV fluid replacement
How should insulin dose be calculated?
0.05-0.1 units/ kg/ hour
When should dextrose therapy be started in DKA?
When glucose is <14mmol/L
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)
What is the most common cause of delayed puberty in boys?
CDGP (constitutional delay of growth and puberty)
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
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
Recall 3 causes of Constitutional Delay of Growth and Puberty
Psychiatric (eg depression/ AN)
Recall some causes of hypogonadotrophic hypogonadism
Hypothalamopituitary disorders: panhypopituitarism, intercranial tumours
Kallman's syndrome, PWS
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
How can delayed puberty be staged in boys vs girls?
Boys: Prader's orchidometer
Girls: Tanner's staging
What non-gonadotrophin hormones are important to measure as part of initial investigation of delayed puberty?
Recall 2 important imaging tests that may be done in investigation of delayed puberty?
Bone age (from wrist x ray)
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
How should primary testicular/ ovarian failure be treated?
Boys: regular testosterone injections
Girls: oestrogen replacement gradually
What are the age parameters for 'early normal' vs precocious puberty?
Early normal: girls = 8-10, boys = 9-12
Precocious: girls = <8, boys = <9
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
What is premature thelarce?
Isolated breast development before 8 years
What does BL enlargement of the testicles indicate before puberty?
Gonadotrophin-dependent precocious puberty (intercranial lesion, ie optic glioma in NF1)
What does UL enlargement of a testicle indicate pre-puberty?
What does small testes and precocious puberty indicate?
Tumour of CAH (adrenal cause)
What is the gold standard investigation for precocious puberty?
GnRH stimulation test
If CAH is suspected, what test should be done?
Urinary 17-OH progesterone
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
What are the 2 most common causes of dwarfism?
What is the phenotype of achondroplasia?
Arms and legs short, normal length thorax
What is the phenotype of hypochondroplasia
Small stature, micromelia (small extremities), large head
What gene mutation is associated with achondroplasia and hypochondroplasia?
FGFR3 - autosomal dominant mutation
Recall some signs and symptoms of osteogenesis imperfecta
Blue sclera, short stature, loose joints, hearing loss, breathing problems
Other than short stature, what are the symptoms of achondroplasia?
Hydrocephalus, depression of nasal bridge, marked lumbar lordosis, trident hands
What X ray findings may be present in achondroplasia?
Chevron deformity: metaphyseal irregularity
Flaring in long bones
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)
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
How should congenital hypothyroidism be investigated and treated in an infant?
Pretty much the same as an adult
What is the most common cause of acquired primary hypothyroidism?
Hashimoto's autoimmune thyroiditis
Recall 2 genetic risk factors for hashimoto's thyroiditis?
What is the prognosis of growth for children with primary hypothyroidism?
Dw they can catch up :-)
What are the signs and symptoms of hyperthyroidism in the foetus?
High CTG trace and foetal goitre on USS
What are the signs and symptoms of hyperthyroidism in the neonate?
Same as adult
What is the medical management of hyperthyroidism?
Carbimazole/ propothiouracil for 2 years
What non-medical management options are there for hyperthyroidism in children?
How is severe obesity, obesity and overweightness defined in children?
Severely obese: 99th centile
Obese: >95th centile
Overweight: 85th-94th centile
What causes impaired skeletal growth in rickets?
Inadequate mineralisation of bone laid down at the epiphyseal growth plates
Recall 3 deficiencies that can cause rickets?
What will an x ray show in Rickets?
Thickened and widened epiphysis
What will be the biochemical picture in rickets?
Reduced calcium and phosphate
Diagnostic = calcium x phosphate <2.4
How can rickets be treated?
Oral vitamin D2
What are the most common causes of fracture in a neonate?
Clavicle - from shoulder dystocia
Humerus/ femur - from breech delivery
What is the prognosis for neonatal fracture?
How old does a child have to be prescribed codeine and morphine?
How should paediatric fractures be managed?
Manipulation and reduction
How old does a child need to be to get a intramedullary nail?
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
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
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
In which age group/ gender is Perthe's most common?
4-8 y/o boys
Recall the signs and symptoms of Perthe's
Insidious presentation: limp, knee pain, hip pain --> limb shortening
What investigations should be done for Perthes?
X ray +/- MRI
What would an x ray show in Perthe's disease?
Increased density of femoral head
What is the roll test?
Patient supine, roll affected hip internally and externally --> guarding or spasm in Perthe's
How is Perthe's managed?
Simple analgesia for pain management<6 years: observation - non-surgical containment using splints>6 years --> surgery
What is Osgood Shlatter Disease?
Osteochondritis (inflammation of the cartilage/ bone) of the patellar tendon insertion at the knee
Recall the most at-risk group for OSD?
10-15y who are physically active
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
What might be seen on X ray in OSD?
Fragmentation of the tibial tubercle and overlying soft tissue swelling
How should OSD be managed?
Simple analgesic packs (intermittent)
Protective knee pads
Reassure - this will resolve over time, but may persist until end of growth spurt
Advise stopping/ reducing all sporting activity
What is chondromalacia patellae?
Anterior knee pain from degeneration of articular cartilage on posterior surface of patella
What is the general cause of chondromalacia patellae?
Overuse in physical activity
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
How should chondromalacia patellae be managed?
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
Recall the signs and symptoms of osteochondritis dissecans?
Pain after exercise - catching, locking and giving way
What is osteomyelitis?
Infection of metaphysis of long bones, commonly the distal femur and proximal tibia
What is the most common pathogen implicated in osteomyelitis?
What is the most common age group affected by osteomyelitis?
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)
Recall the signs and symptoms of osteomyelitis?
Acute onset limb pain, immobile limb, skin swollen, tender and erythematous
What investigations should be done for suspected osteomyelitis?
BCs and FBC
Joint aspiration and MC+S
XR --> MRI of joint (shows soft tissue)
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
What is septic arthritis?
Infectious arthritis of the synovial joint (vs osteomyelitis of bone)
Which joint is affected in 75% of cases of septic arthritis?
What is the usual pathogen implicated in septic arthritis?
Recall the signs and symptoms of septic arthritis
Single joint warm, erythematous, tender, reduced range of movement, infants will hold the limb still
What investigations should be done for septic arthritis?
SAME AS OSTEOMYELITIS
BCs and FBC
Joint aspiration and MC+S
XR --> MRI of joint (shows soft tissue)
How should septic arthritis be managed?
Similar to osteomyelitis but not the same
IV flucloxacillin --> oral
Joint wash out and aspirated to dryness PRN
What is Still's disease?
Persistent joint swelling presenting before 16 years, in the absence of infection/ other defined cause
What are the signs and symptoms of Still's?
May be any number of joints
Gelling (stiffness after periods of rest)
Morning joint stiffness/ pain
Recall some late signs of Still's
Inflammation and bone expansion --> 'knock knees'
Salmon-coloured rash (pathogenomic of systemic Still's)
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
How should Still's be managed?
Corticosteroids (high to low dose)
DMARDs - if disease fails to respond to conventional treatments - methotrexate or sulfalazine
TNF alpha inhibitors if needed
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
What is the former name of reactive arthritis?
What are the most likely causative organisms in reactive arthritis?
Enteric bacteria - salmonella, shigella, campylobacter, yersinia
Recall the signs and symptoms of reactive arthritis
Transient joint swelling (<6 weeks) following an extra-articular infection
Low grade fever
Which joints are most typically affected by reactive arthritis?
What investigations should be done in suspected reactive arthritis?
A diagnosis of exclusion as no positive findings
Bloods (CRP normal or mildly elevated)
How should reactive arthritis be managed?
Self-limting, NSAIDs will do for analgesia
What is SUFE?
Displacement of epiphysis of femoral head posteroinferiorly
Why does SUFE need prompt treatment?
To prevent avascular necrosis
What age group is usually affected by SUFE?
What is the biggest RF for SUFE?
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
What investigations should be done in suspected SUFE?
Hip XR in AP and frog-lateral view (both hips)
How should SUFE be managed?
Surgical internal fixation at growth plate
What is transient synovitis?
Irritable hip - 3-10 years
What age group is affected by transient synovitis?
What is a red flag for urgent hospital assesment in transient synovitis?
Age <3 with an acute limp
What is the cause of transient synovitis?
Viral infection (so causes a low grade fever)
How should transient synovitis be investigated and managed
Clinically - it is self-limiting
What is DDH?
A spectrum of conditions affecting proximal femur and acetabulum - ranging from subluxation to frank dislocation
What is true DDH?
Femoral head has a persistently abnormal relationship with the acetabulum--> abnormal bony development, premature arthritis and significant disability
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
What is the biggest RF for DDH?
Recall the signs and symptoms of DDH
Delayed crawling/ walking - toe-walking
Asymmetrical skin folds
Limb length discrepancy
What age group are the Barlow and Ortolani manoevres appropriate for?
What other investigation can be done alongside B and O manoevres in suspected DDH?
What investigation should be done in children too old for B and O manoevres?
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
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
How should DDH be managed in those >6 months old?
Surgery if conservative measures fail or there is no progress with harness
What is a reflex anoxic seizure?
Episodes of tonic clonic fitting due to cardiac asystole secondary to vagal inhibition
What are the causes of reflex anoxic seizure?
Can be triggered by pain, head trauma, cold food (ice cream), fright, fever
What is a febrile convulsion?
A seizure and fever in the absence of intracranial infection
What is the age group that can be affected by febrile convulsions?
6m to 3y
What are the signs and symptoms of febrile convulsions?
Generalised tonic clonic seizure on background of fever
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
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
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
When should an ambulance be called for febrile convulsion?
1st seizure - of any duration or cause
Seizure lasts >5 mins with no drugs
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
What system is used to classify seizures?
International League Against Epilepsy 2017
What is the correct name for an absence seizure these days?
Generalised non-motor seizure
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
What is the most common form of childhood epilepsy?
Benign Rolandic Epilepsy - myoclonic seizures in a 3-12 year old
What are the 3 different types of myoclonic epilepsy
Benign rolandic (3-12y)
Juvenile myoclonic epilepsy (12-18y)
Progressive myoclonic epilepsy
What is the other name for benign rolandic seizures?
What are the signs and symptoms of benign rolandic epilepsy?
Myoclonic seizures during sleep involving face and UL with hypersalivation
What are the signs and symptoms of juvenile myoclonic epilepsy?
Myoclonic seizures involving upper body just after waking up and beginning after puberty
What is progressive myoclonic epilepsy?
Rare syndromes of combination of myoclonc and tonic-clonic seizures, with patient deteriorating over time
For what type of epilepsy is treatment not usually given?
Benign Rolandic Epilepsy
What type of antiepileptic actually exacerbates myoclonic seizures?
What type of antiepileptic actually exacerbates absence seizures?
What is the 1st line for rescue therapy for prolonged epileptic seizures?
Which antiepleptic drug requires monitoring?
After how long seizure-free can antiepileptic therapy be stopped?
Recall 2 Side effects of valporate
Weight gain, hair loss
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
What is the age range of peak incidence for infantile spasm?
What is an infantile spasm?
Sudden, rapid, tonic contraction of trunk and limb muscles with gradual relaxation over 0.5-2 seconds
What is a 'Salaam' attack?
Head goes down and arms go up in the air
How should West Syndrome be investigated?
EEG - shows hypoarrhythmias
What is the prognosis for West syndrome?
How should West syndrome be managed?
Vigabatrin or corticosteroids
What investigations should be done for vasovagal syncope?
Lying and standing BP with ECG if indicated
FBC (to query anaemia/ bleeding)
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
2 other risk factors
(LOC >5 mins, abnormal drowsiness, >3 episodes of vomiting, high-impact injury, amnesia > 5 mins)
Give 2 signs of tear of the MMA
What are the signs and symptoms of extradural haemorrhage?
Lucid interval followed by deterioration
Potential focal neurology
How should extradural haemorrhage be managed?
Fluid resuscitation to correct hypovolaemia
Evacuation of haematoma and arrest bleeding
What is the cause of subdural haemorrhage?
Tear in vein as it crosses subdural space
What is the main symptom of subdural?
Gradually decreasing GCS
What is often the cause of subdural in infants?
Which infants are most at risk of intraventricular haemorrhage?
Premature babies due to VLBW
What are the 2 main causes of intraventricular haemorrhage in infants?
ECMO in preterm babies with ARDS
Congenital CMV infection
ECMO = extracorporeal membrane oxygenation
Recall the signs and symptoms of intraventricular haemorrhage
Sleepiness and lethargy, apnoea, reduced
Moro reflex, low tone, tense fontanelle
Which investigation is used to diagnose intraventricular haemorrhage in a baby?
How should intraventricular haemorrhage be treated in a baby?
Acetazolamide (to reduce CSF) and LP
Ventriculo-peritoneal shunt if hydrocephalus
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
What are the 2 causes of communicating hydrocephalus?
What are the possible causes of non-communicating hydrocephalus?
Congenital causes: Dandy-Walker malformation or Chiari malformation
Acquired: IVH/ tumour
What is the sunset sign?
Eyes appear to be driven down bilaterally - sign of raised ICP
What are the 2 key investigations for hydrocephalus?
Measurement of head circumference
What is the first line management for hydrocephalus?
What is the second line management for hydrocephalus?
Furosemide - to inhibit CSF production
What % of migraines have aura?
Is migraine likely to be UL or BL?
Could be either
What are the symptoms of cluster headaches?
UL (eyes/ side of face) sharp throbbing pain, causing swelling/ watering inclusters
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
If simple analgesia doesn't work, what is the 2nd line pain med in migraines?
Recall 2 prophylactic medications for migraine
What is Tourette's?
Chronic and multiple tics - starting before 18y old and persisting >1 year
What are the 3 types of tic?
Motor, vocal or phonic
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
What is the first line medication for tic disorder?
Antipsychotics - eg risperidone
What is the inheritance pattern of Duchenne muscular dystrophy?
At what age does duchenne muscular dystrophy present, and at what age can it be diagnosed?
Can be diagnosed at 5y
Which gene is deleted in Duchenne muscular dystrophy?
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
What type of gait is seen in Duchenne muscular dystrophy?
Other than gait, what else is affected in early DMD?
What is Gower's sign?
The need to turn prone to rise - seen in DMD
How is the heart affected by Duchenne muscular dystrophy?
Primary dilated cardiomyopathy
What is elevated in the plasma in Duchenne muscular dystrophy?
CKP (creatine phosphokinase) due to myofibre necrosis
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
- CPAP (due to weakness of intercostals)
- Glucocorticoids (to delay need for wheelchair)
- Cardioprotective drugs
What is the difference between Beck's MD and DMD?
Same signs and symptoms but often less severe and progresses at a slower rate
What is the genetic cause of myotonic muscular dystrophy?
Autosomal dominant trinucleotide repeat disorder
When does myotonic muscular dystrophy present?
20s to 30s
In what way is myotonic muscular dystrophy the reverse of duchenne muscular dystrophy?
It affects small muscles more than large muscles
Which form of MEN is NF1 associated with?
Recall some signs and symptoms of NF1
Café au lait spots
What is tuberous sclerosis?
Rare genetic condition that causes mainly benign tumours to develop in different parts of the body
Recall 3 cutaneous features of tuberous sclerosis
"Ash leaf" patch
Shagreen patches (rough skin on lumbar spine)
Angiofibromata (butterfly facial distribution)
Recall some neurological features of tuberous sclerosis
Intellectual disability (often with ASD)
Why is there a risk of hydrocephalus in tuberous sclerosis?
Development of subependymal giant cell astrocytoma
Which investigations are useful for diagnosing tuberous sclerosis?
What is the layman's term for the haemangioma in Sturge Weber syndrome?
Port wine stain
Where does the haemangiomatous facial lesion present in Sturge Weber Syndrome?
Trigeminal nerve distribution
Recall some signs and symptoms of Sturge Weber Syndrome
How should Sturge Weber Syndrome diagnosis be confirmed?
What are the 3 symptoms that may present via somatisation?
What is Apley's rule?
The further the pain is from the umbilicus, the more likely the pain is of an organic nature
What is the 1st line management for somatisation?
Promote communication between family and children
Pain-coping skills ie relaxation techniques for headaches
What should be done if 1st line treatments for somatisation fail?
Referral to CAMHS
Which type of developmental delay has the best prognosis?
Isolated delay (global has association with syndromes that have poorer prognosis)
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
What is the most likely cause of sticky eyes in a <48 hours neonate?
What is the most likely cause of sticky eyes in a neonate in first 1-2w?
Chlamydia - often co-presents with pneumonia
How should neonatal gonorrhoeal infection be investigated and treated?
Gram stain and culture
3rd gen cephalosporin (eg ceftriaxone)
How should neonatal chlamydia infection be investigated and treated?
Which is more common in children out of hypermetropia and myopia?
What is the cause of Retinopathy of Prematurity?
Vascular proliferation leads to retinal detachment --> fibrosis and blindness
What is the main RF for retinopathy of prematurity?
Uncontrolled use of high concentrations of oxygen
What are the 2 key signs of retinopathy of prematurity?
Unusual eye movements
What is the first line treatment of retinopathy of prematurity?
What is strabismus?
Abnormal alignment of eyes
At what age is strabismus diagnosed?
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)
How should strabismus be managed?
1st line = glasses
2nd line = eye patching
3rd line = eye drops
4th line = eye muscle surgery
Which burn pattern is typical of NAI?
Glove and stocking
Which type of long bone fracture is indicative of NAI?
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
What needs to be ruled out in suspected NAI?
Leukaemia, ITP and haemophilia
What is the definition of SIDS?
Deaths which remain unexplained after a post-mortem
What is the peak age for SIDS?
Recall some important risk factors for SIDS
Prematurity, LBW, male, maternal smoking, microenvironment (pillow, heat)
For how long should parents share a room with baby?
Which organisation provides support for SIDS?
For how long should a child be excluded from school if they have scarlet fever?
24 hours after antibiotics
For how long should a child be excluded from school if they have whooping cough?
48 hours after Abx
For how long should a child be excluded from school if they have measles?
4 days from onset of rash
For how long should a child be excluded from school if they have rubella?
4 days from onset of rash
For how long should a child be excluded from school if they have chickenpox?
Until all lesions crusted over
For how long should a child be excluded from school if they have impetigo?
Until all lesions crusted over
For how long should a child be excluded from school if they have mumps?
5 days from onset of swollen glands
For how long should a child be excluded from school if they have influenza?
When do fontanelle close by?
1 year usually, can be as late as 2
What should be given before buccal midazolam in a fitting child?
What infections are children with DiGeorge syndrome particularly at risk of and why?
No thymus --> no T cells
Give 2 causes of evanescent salmon pink rash
Juvenile idiopathic arthritis
Why shouldn't metoclopramide be given to children?
Can give oculogyric crises
Recall 3 conditions that cause rigors in children?
How should burns be managed medically?
Cover for potential toxic shock syndrome with ceftriaxone and clindamycin
How can the % of Total Burn Surface Area be measured OE?
Hand is 1% as a rough guide
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