paeds Flashcards
what are the three fetal shunts
ductus venosus, foramen ovale, and ductus arteriosus
ductus venousus shunts
from the umbilical vein to the IVC to bypass the liver
foramen ovale shunts
right atrium to left atrium to bypass right ventricle and pulmonary circulation
ductus arteriosus shunts
the pulmonary artery with the aorta to bypass pulmonary circulation
why does the foramen ovale close?
first breath expands alveoli decreasing pulmonary vascular resistance causes pressure to fall in the right atrium which squashes the atrial septum.
foramen ovale after shutting gradually becomes the
fossa ovalis
what is required to keep the ductus arteriosus open?
prostaglandins
why does the ductus arteriosus close after first breath
increased blood oxygen decreases circulating prostaglandins
after closing the ductus arteriosus forms
ligamentum arteriosum
ductus venosus closes because
of umbilical cord clamping
ductus venosus becomes
ligamentum venosum
innocent murmurs are
systolic flow murmurs
features of an innocent murmur are
soft, short, systolic, asymptomatic, and situation dependent.
red flags for a murmur are
loud, diastolic, louder on standing or systemic features.
investigations for murmurs are
ECG, CXR and echo
pan systolic murmur examples are
mitral regurgitation, tricuspid regurgitation, and ventricular septal defects
ventricular septal defects are heard at the
lower left sternal border
ejection systolic murmurs examples
aortic stenosis, pulmonary stenosis and hypertrophic obstructive cardiomyopathy
hypertrophic obstructive cardiomyopathy is heard at
fourth intercostal space on the left sternal border
negative thoracic breathing during inspiration causes
physiological splitting of the heart sound
atrial septal defect murmur
mid systolic crescendo decrecscendo murmur with a fixed split second heart sound
patent ductus arteriosus murmur
continous crescendo-decrescendo machinery murmur
tetralogy of fallot murmur
ejection systolic murmur due to pulmonary stenosis
cyanotic heart disease pathology
deoxygenated blood in systemic circulation. occurs with a right to left shunt.
heart defects that cause right to left shunt (cyanotic heart disease)
VSD, ASD, PDA, and transposition of the great arteries
risk factors for patent ductus arteriosus (PDA)
rubella or prematurity
left to right shunt increases pressure in the
pulmonary hypertension and causes right heart strain due to increases resistance leading to hypertrophy.
presentation of PDA
SOB, difficulty feeding, poor weight gain, lower respiratory tract infection
management of PDA
monitor with ECHO until 1 as may close conservatively.
surgical management of PDA
trans-catheter or surgical closure.
the separation of the upper chamber of the heart (the atria) during development is by the
two walls that form with the endocardial cushion
the name of the two walls that separate the atria are
septum primum and septum secondum
pulmonary hypertension may lead to what syndrome
Eisenmenger syndrome
most common atrial septal defect is
ostium secondum
types of atrial septal defect are
ostium secondum, patent foramen ovale, ostium primum
27 year old male develops a DVT after post operation that causes a massive stroke but as to the cause, no one is sure. what may you suspect?
lifelong asymptomatic ASD
complications of ASD?
stroke, atrial fibrillation, pulmonary hypertension with right sided heart failure, and eisenmenger syndrome.
presention of ASD in adulthood are
dyspnoea, heart failure or stroke
ASD presentation in childhood
asymptomatic, Shortness of breath
Difficulty feeding
Poor weight gain
Lower respiratory tract infections
management of ASD is
conservative, transverse catheter closeure via femoral vein, open heart surgery or anticoagulants
ventricular septal defects genetic associations
down’s syndrome and turner’s syndrome
symptoms of VSD are
initially asymptomatic but Poor feeding Dyspnoea Tachypnoea Poor feeding Failure to thrive
VSD may be corrected by
transvenous catheter closure via femoral vein or open heart surgery
risk of what infection is likely with a VSD?
infective endocarditis,
bone marrow response to cyanosis in eisenmenger’s syndrome
production of more RBS leading to polycythaemia causing a plethoric complexion.
complication of polycythaemia?
increases likelihood of clots.
pulmonary hypertension examination signs
raised JVP, right ventricular heave, loud P2, peripheral oedema
right to left shunt and chronic hypoxia findings
Cyanosis
Clubbing
Dyspnoea
Plethoric complexion
mortality prognosis in eisenmenger syndrome
reduced life expectancy of 20 years
can you medically reverse eisenmenger syndrome?
no
treatment of eisenmenger syndrome could be through a
heart and lung transplant
eisenmenger syndrome pulmonary hypertension mx
sildenafil
eisenmenger syndrome mx of polycythaemia
venesection
eisenmenger syndrome mx of infective endocarditis
prophylactic antibiotics
aortic coarctation is related to
turner’s syndrome
only indication of aortic coarctation may be
weak femoral pulses
investigation of coarctation may be through
four limb blood pressure, high blood pressure will arise from the limbs supplied before the narrowing
signs of coarctation
systolic murmur below left clavicle, tachypnoea, poor feeding and grey/floppy baby
later in life signs of coarctation
left ventricular heave, underdeveloped limbs
management of coarctation
critical care require prostaglandin with surgery to ligate the ductus arteriosus and correct the coarctation.
the aortic valve is called
the three leaflets are called the aortic sinuses of valsalva
significant aortic stenosis is causes
fatigue, shortness of breath, dizziness and fainting. worse on exertion and likely to present with heart failure.
aortic stenosis ejection systolic murmur may radiate to the
carotids
examination signs of aortic stenosis also includes
ejection click before the murmur, palpable thrill and slow rising pulse with narrow pulse pressure.
gold standard investigation for aortic stenosis is
ECHO
additional Ix for aortic stenosis is
ECGs and exercise testing
treatment for aortic stenosis includes
Percutaneous balloon aortic valvoplasty
Surgical aortic valvotomy
Valve replacement
complication of aortic stenosis is
Left ventricular outflow tract obstruction Heart failure Ventricular arrhythmia Bacterial endocarditis Sudden death
pulmonary valve consists of how many leaflets?
three
pulmonary valve stenosis is associated with
Tetralogy of Fallot
William syndrome
Noonan syndrome
Congenital rubella syndrome
presentation of pulmonary valve stenosis
symptoms of fatigue on exertion, shortness of breath, dizziness and fainting.
signs of pulmonary stenosis includes
ejection systolic murmur, palpable thrill, right ventricular heave and raised JVP with giant a waves.
symptomatic pulmonary stenosis treatment is through
balloon valvuloplasty via venous catheter via femoral vein or open heart surgery.
tetralogy of fallot consists of
Ventricular septal defect (VSD)
Overriding aorta
Pulmonary valve stenosis
Right ventricular hypertrophy
risk factors for tetralogy of fallot
Rubella infection
Increased age of the mother (over 40 years)
Alcohol consumption in pregnancy
Diabetic mother
CXR may show tetralogy of fallot as
a boot shaped heart
severe cases of tetralogy of fallot will cause what before one year?
heart failure
signs and symptoms of tetralogy of fallot
Cyanosis Clubbing Poor feeding Poor weight gain Ejection systolic murmur “Tet spells”
tet spells refer too
temporary worsening of right to left shunt causing a cyanotic episodes
tet spells pathology are
pulmonary vascular resistance increasing or systemic resistance decreasing due to presence of carbon dioxide
why does carbon dioxide causes a decrease in systemic vascular resistance?
vasodilator.
tet episodes may be triggered by?
waking, physical exertion or crying
tet spells initial management
squatting to increase systemic pressure
medical management of tet spell
oxygen, beta blockers, IV fluids, morphine, sodium carbonate and phenylephrine infusion.
management of tetralogy of fallot
prostaglandin infusion to maintain ductus arteriosus, total surgical repair or open heart surgery.
ebsteins anomaly refers too
lower tricuspid valve in right side of heart.
anatomically ebstein’s anomaly causes
large right atrium but small right ventricle
ebsteins anomaly is related to what syndrome
wolff-parkinson-white syndrome
presentation of ebstein’s anomaly is
Evidence of heart failure (e.g. oedema) Gallop rhythm Cyanosis Shortness of breath and tachypnoea Poor feeding Collapse or cardiac arrest
ECG findings for ebsteins anomaly includes
Arrhythmias
Right atrial enlargement
Right bundle branch block
Left axis deviation
medical management of ebsteins anomaly is for
treating arrhythmias and heart failure
transposition of the great vessels anatomically means?
RV pumps into aorta and LV pumps into pulmonary vessels
immediate survival of the baby with transposition of great vessels is through
patent ductus arteriosus, atrial septal defect or ventricular septal defect.
transposition of the great vessels is usually identified through
antenatal ultrasound scans
how may a balloon septostomy assist in transposition of great vessels.
via umbilicus a catheter can open a atrial septal defect
definitive management of transposition of great vessels is
open heart surgery
type 1 diabetes may be triggered by what viruses
Coxsackie B virus and enterovirus.
functions of insulin are
enables glucose entry to the cell, and enable muscle, livers cells to produce glycogen.
insulin is an example of what sort of hormone
anabolic
insulin is produced by
pancreas, beta cells in the islets of langerhan
glucagon is an example of what sort of hormone
catabolic
glucagon is produced by
alpha cells in the islets of langerhan in the pancreas.
glucagon function is
liver to breakdown glycogen via glycogenolysis, and for the liver to convert fats into glucose through gluconeogenesis
ketogenesis occurs through
liver using fatty acids to create water soluble fatty acids
people in ketosis have what smell in their breath?
acetone.
triad of hyperglycaemia is
polyuria, polydispia and weight loss.
other symptoms of hyperglycaemia are
secondary enuresis and recurrent infections.
diagnosis of type 1 diabetes should involve
FBC, renal profile and formal lab glucose, and HbA1c.
additional tests to consider with a type 1 diabetic
blood cultures for infection, thyroid function tests (autoimmune thyroid disease), coeliac disease and insulin antibodies.
insulin injections in the same spot may cause
lipodystrophy
patients with type 1 diabetes usually started on
basal bolus regime
example of basal is
long acting insulin lantus usually given in the evening
example of bolus is
short acting insulin actrapid, usually three times a day according to carb intake.
two types of insulin pump are
tethered or patch
hypoglycaemia symptoms include
unger, tremor, sweating, irritability, dizziness and pallor. More severe hypoglycaemia will lead to reduced consciousness, coma and death
first line for hypoglycaemia is
lucozade
severe hypoglycaemia consider
IV dextrose and intramuscular glucagon.
differentials for a hypoglycaemia episode
hypothyroidism, glycogen storage disorders, growth hormone deficiency, liver cirrhosis, alcohol and fatty acid oxidation defects
common complication of type 1 diabetes in kids are
nocturnal hypoglycaemia
triad of long term complications of chronic hyperglycaemia
macrovascular, microvascular and infection
macrovascular complications of hyperglycaemia
coronary artery disease, diabetic foot, stroke, hypertension.
microvascular complications of hyperglycaemia
peripheral neuropathy, retinopathy, kidney disease (glomerulosclerosis)
monitoring of blood sugars can be through
Hb1Ac every 3-6 months, capillary glucose or FreeStyle libre.
triad of outcome of diabetic ketoacidosis
ketoacidosis, dehydration and potassium imbalance
pathology of acidosis in DKA
ketones increase acid levels, bicarbonate before but eventually run out
pathology of dehydration in DKA
glucose leaks into urine, osmotic diuresis draws water into the urine causing polyuria and results in dehydration
potassium imbalance pathology in DKA
insulin normally drives potassium into cells. leads to arrhythmias.
priority of treatment in DKA is
fluid resus followed by insulin infusion.
DKA complication of treatment is
cerebral oedema
pathology of cerebral oedema via DKA tx
fluid moves to extracellular space in DKA. fluids and insulin cause rapid shift of fluid into intracellular space causing cells to swell.
signs of cerebral oedema
headaches, altered behaviour, bradycardia or changes to consciousness.
management of cerebral oedema in DKA tx
slowing IV fluids, IV mannitol and IV hypertonic saline.
symptoms of DKA
Polyuria Polydipsia Nausea and vomiting Weight loss Acetone smell to their breath Dehydration and subsequent hypotension Altered consciousness sepsis
diagnosis of DKA is
Hyperglycaemia (i.e. blood glucose > 11 mmol/l)
Ketosis (i.e. blood ketones > 3 mmol/l)
Acidosis (i.e. pH < 7.3)
rehydration of DKA should occur over
evenly over 48 hours
principles of treatment for DKA
avoid bolus, treat underlying triggers, avoid hypoglycaemia, add potassium to fluids, monitor for cerebral oedema.
adrenal insufficiency refers too when
adrenal glands do not produce enough steroids particularly cortisol and aldosterone.
addison’s disease refers too
primary adrenal insufficiency of cortisol and aldosterone
common cause of addison’s disease is
autoimmune
secondary adrenal insufficiency refers too
inadequate ACTH
causes of secondary adrenal insufficiency includes
damage to pituitary, congenital, infection, surgery, RT or loss of blood.
tertiary adrenal insufficiency refers too
inadequate CRH release by the hypothalamus
cause of tertiary adrenal insufficiency is
sudden withdrawal or exogenous long term steroids (>3 weeks)
features of adrenal insufficiency in babies
Lethargy Vomiting Poor feeding Hypoglycaemia Jaundice Failure to thrive
features of adrenal insufficiency in children
Nausea and vomiting Poor weight gain or weight loss Reduced appetite (anorexia) Abdominal pain Muscle weakness or cramps Developmental delay or poor academic performance Bronze hyperpigmentation
investigations for adrenal insufficiency
U&Es (hyponatraemia and hyperkalaemia) and blood glucose (hypoglycaemia) as well as cortisol, ACTH, aldosterone and renin levels
addison’s disease specific hormone levels
Low cortisol
High ACTH
Low aldosterone
High renin
secondary adrenal insufficiency hormone levels.
Low cortisol
Low ACTH
Normal aldosterone
Normal renin
what specific test can be performed to confirm adrenal insufficiency
short synacthen test
short synacthen testing involves
baseline cortisol measure, injection then measure 30 and 60 minutes post.
short synacthen test is a failure when
cortisol fails to rise less than double the baseline confirming addison’s disease.
glucocorticoid replacement for adrenal insufficiency is
hydrocortisone (cortisol)
mineralcorticoid hormone replacement for adrenal insufficiency is
fludrocortisone (aldosterone)
daily monitoring post adrenal insufficiency involves
Growth and development Blood pressure U&Es Glucose Bone profile Vitamin D
sick day rules for adrenal insufficiency involves
dose of steroid increased and more regularly, blood glucose monitoring, vomiting and diarrhoea involves IM injection of steroid likely.
Addisonian crisis presentation
Reduced consciousness
Hypotension
Hypoglycaemia, hyponatraemia and hyperkalaemia
management of addisonian crisis involves
I.V. hydrocortisone, intense monitoring of electrolytes, fluid and blood sugars with I.V. resus.
congenital adrenal hyperplasia is the deficiency in the
21-hydroxylase enzyme
congenital adrenal hyperplasia effects hormones how?
nderproduction of cortisol and aldosterone and overproduction of androgens
congenital adrenal hyperplasia genetic pattern is
autosomal recessive
mineralcorticoid hormone is released in response to what and for what function?
renin, to control the balance of salt and water in the blood
aldosterone acts on the kidney to
increase sodium reabsorption into the blood and increase potassium secretion into the urine. Therefore, aldosterone acts to increase sodium and decrease potassium in the blood.
21-hydroxylase is the enzyme responsible for
converting progesterone into aldosterone and cortisol.
growth hormone stimulates the release of
insulin-like growth factor 1 (IGF-1) by the liver,
empty sella syndrome refers too
under developed pituitary gland.
neonate presentation of growth hormone deficiency
Micropenis (in males)
Hypoglycaemia
Severe jaundice
older infants present with what? for GH deficiency
Poor growth, usually stopping or severely slowing from age 2-3
Short stature
Slow development of movement and strength
Delayed puberty
growth hormone stimulation test involves measuring the response to
glucagon as well as insulin, arginine and clonidine.
other investigations for growth hormone deficiency
thyroid and adrenal insufficiency, MRI brain, genetic testing, x-ray or DEXa
associated genetic conditions for GH deficiency include
Turner syndrome and Prader–Willi syndrome
Tx for GH deficiency is
Daily subcutaneous injections of growth hormone (somatropin)
two causes of congenital hypothyroidism are
dysgensis (underdeveloped gland thyroid gland) or dyshormonogenesis.
screening for congenital hypothyroidism is through
newborn blood spot screening test.
symptoms of congenital hypothyroidism include
Prolonged neonatal jaundice Poor feeding Constipation Increased sleeping Reduced activity Slow growth and development
commonest cause of acquired hypothyroidism is
autoimmune thyroiditis known as hashimoto’s thyroiditis
autoimmune thyroiditis/ hashimoto’s thyroiditis pathology
antithyroid peroxidase (anti-TPO) and antithyroglobulin antibodies .
hashimoto’s thyroiditis is associated with
type 1 diabetes and coeliac disease.
symptoms of hashimoto’s thyroiditis are
Fatigue and low energy Poor growth Weight gain Poor school performance Constipation Dry skin and hair loss
follow up investigations of hashimoto’s thyroiditis include
thyroid function blood tests (TSH, T3 and T4), thyroid ultrasound and thyroid antibodies.
treatment for hashimoto’s thyroiditis
levothyroxine.
commonest cause of bronchiolitis
respiratory syncytial virus RSV
bronchiolitis commonly occurs in children aged
under 1 year
why does RSV not affect adults in the same way as young kids?
proportional size of the airways
presentation of bronchiolitis
coryzal symptoms, dyspnoea, tachypnoea, poor feeding, mild fever, apnoeas, wheeze and crackles.
signs of bronchiolitis
raised respiratory rate, accessory muscles (SCM, abdominal), intercostal and subcostal recessions, nasal flaring, head bobbing, tracheal tugging, cyanosis and abnormal airway nosies.
wheezing is causes by
narrowed airways usually on expiration
grunting is caused by
exhaling with a partially closed glottis to increase end expiratory pressure.
stridor is caused by
obstruction of upper airway
RSV typical course
chesty symptoms day 1-2.
onset of coryzal symptoms with peak being day 3/4.
recovery over week 2 - 3.
reasons to admit for bronchiolitis
under 3 months old, prexisitng condition, down’s syndrome, prematurity, respiratory rate >70, oxygen sats <92%, severe respiratory distress.
management of bronchiolitis
adequate intake via NG tube or IV fluids, saline nasal drops, supplementary oxygen.
ventilatory support for bronchiolitis includes
high flow humidified oxygen, continuous positive airway pressure, intubation and ventilation
why is high flow humidified oxygen helpful outside oxygenation?
provides end expiratory pressure.
how can you assess ventilation?
rising pCO2, falling pH and respiratory acidosis all signs of poor ventilation.
prevention of bronchiolitis may be managed through?
Palivizumab a monoclonal antibody given with monthly injections. passive protection.
who is in the high risk group for RSV?
congenital heart disease or premature babies.
viruses that commonly cause a viral induced wheeze?
RSV or rhinovirus
Poiseuille’s law dictates
hat flow rate is proportional to the radius of the tube to the power of four.
features that differentiate a viral induced wheeze to asthma are
before 3 years old, not history of atopy and only occurs during infection.
presentation of viral wheeze is
Shortness of breath
Signs of respiratory distress
Expiratory wheeze throughout the chest
focal wheeze indicates
focal airway obstruction
acute asthma presentation
Progressively worsening shortness of breath
Signs of respiratory distress
Fast respiratory rate (tachypnoea)
Expiratory wheeze on auscultation heard throughout the chest
The chest can sound “tight” on auscultation, with reduced air entry
moderate acute asthma signs
peak flow >50% and normal speech
severe acute asthma signs
peak flow <50%, sats <92%, unable to complete sentences in one breath, respiratory distress, hear rate (>140 in 1-5yrs, >125>5yrs), RR (>40 1-5yrs, >30 in >5yrs)
life threatening asthma signs
peak flow <33%, sats <92%, exhaustion and poor respiratory effort, hypotension, silent chest, cyanosis, altered consciousness.
staples of management of virally induced wheeze or acute asthma are
supplementary oxygen, bronchodilators, steroids and antibiotics.
bronchodilators for acute asthma are
salbutamol (Beta 2 agonist), ipratropium bromide (anti-muscarinic), IV magnesium sulphate, IV aminophylline
moderate to severe asthma stepwise progression
- salbutamol
- nebuliser salbutamol/ipratropium bromide
- oral prednisolone
- IV hydrocortisone
- IV magnesium sulphate
- IV salbutamol
- IV aminophylline
salbutomal dosage for moderate to severe asthma
10 puffs every 2 hours
oral prednisone loading dose
1mg per kg of body weight once a day for 3 days.
high doses of salbutamol should make you consider the levels of
potassium as they absorbed into cells
post acute asthma steps to consider
Finish the course of steroids if these were started (typically 3 days total)
Provide safety-net information about when to return to hospital or seek help
Provide an individualised written asthma action plan
asthma is a
chronic inflammatory airway disease leading to variable airway obstruction.
asthma is one atopic condition, what are other examples, perhaps in the family history?
allergies, eczema, asthma, hay fever
presentation of asthma
Episodic symptoms intermittent exacerbations
Diurnal variability, t
Dry cough with wheeze and shortness of breath
Typical triggers
Bilateral widespread “polyphonic” wheeze
Symptoms improve with bronchodilator
investigations for asthma may include
spirometry, direct bronchial challenge with histamine or methacholine, fractional exhaled nitric oxide, peak flow variability
chronic asthma therapy <5yrs
- SABA
- Add a low dose corticosteroid inhaler or a leukotriene antagonist (i.e. oral montelukast)
- Add the other option from step 2.
- Refer to a specialist.
medical therapy for chronic asthma 5-12 years
- Start a SABA as req.
- low dose corticosteroid inhaler
- LABA
- corticosteroid inhaler to a medium dose.
- Consider adding:
Oral leukotriene receptor antagonist (e.g. montelukast)
Oral theophylline - corticosteroid to a high dose.
- Referral to a specialist.
therapy for chronic asthma >12 years
- SABA
- low dose corticosteroid
- LABA
- increase corticosteroid dose, trial LAMA, monteleukast, theophylline etc.
- increase corticosteroid dose.
- oral steroids.
does inhaled corticosteroids effect growth?
effect dose dependent hence the need for good asthma control and regular reviews
MDI spacer cleaning tips
once a month, avoid scrubbing and air dry.
pneumonia on a cxr presents with
consolidation
presentation of pneumonia is
Cough (typically wet and productive) High fever (> 38.5ºC) Tachypnoea Tachycardia Increased work of breathing Lethargy Delirium
general signs of pneumonia include
Tachypnoea (raised respiratory rate) Tachycardia (raised heart rate) Hypoxia (low oxygen) Hypotension (shock) Fever Confusion
chest signs of pneumonia include
bronchial breathing, focal coarse crackles, dullness to percussion
most common cause of bacterial pneumonia
streptococcus pneumonia
staphylococcus aureus signs on CXr with pneumonia
pneumatocoeles (round air filled cavities) and consolidations in multiple lobes.
what bacteria may effect unvaccinated or pre vaccinated children with pneumonia
group B strep and haemophilus influenza
mycoplasma pneumonia presentation of pneumonia
extra-pulmonary manifestations (e.g. erythema multiforme).
commonest viral cause of pneumonia include
RSV the most common
other viruses that may cause pneumonia
parainfluenza, and influenza
ix for pneumonia
CXR, sputum cultures, throat swab,viral PCR
Tx for pneumonia first line antibiotic is
amoxicillin
what may be used to treat atypical pneumonia or as alternative to penicillin?
macrolides
examples of macrolides include
erythromycin, clarithromycin or azithromycin
additional tests in recurrent respiratory tract infection
sweat test, serum immunoglobulins, IgG, sweat test and HIV, FBC and CXR
croup commonly effects what age group?
6 months to 2 years
croup causes
barking cough due to oedema in the larynx
classic cause of croup is
parainfluenza virus
croup used to be caused by
diptheria
diptheria croup can lead to
epiglottitis
presentation of croup
Increased work of breathing “Barking” cough, occurring in clusters of coughing episodes Hoarse voice Stridor Low grade fever
what treatment is very effective for croup
single dose 150 mcg/kg of oral dexamethasone.
severe croup may require.
Oxygen
Nebulised budesonide
Nebulised adrenalin
Intubation and ventilation
epiglottitis is typically caused by
haemophilus influenza type B.
presentation of epiglottis
Patient presenting with a sore throat and stridor Drooling Tripod position, sat forward with a hand on each knee High fever Difficulty or painful swallowing Muffled voice Scared and quiet child Septic and unwell appearance
lateral X-ray of epiglottis reveals
thumbprint sign
treatment of epiglottitis is
securing the airway (intubation, tracheostomy, ITU) with IV antibiotics (ceftriaxone) and steroids (dexamethasone)
common complication of epiglottitis is
abscess
laryngomalacia is a condition that refers too
the supraglottis larynx flops
causing partial airway obstruction
in laryngomalcia the aryepiglottic folds are
shortened causing an omega shape
laryngomalacia presentation is with
harsh whistling sound; inspiratory stridor
management of laryngomalacia is through
child development (grow out of it)
whooping cough is caused by
bordetella pertussis
bordella pertussis is what type of bacteria?
gram negative
is there a vaccination for pertussis?
yes
presentation of pertussis ?
mild coryzal symptoms, low grade fever, severe coughing fits post 1 week (paroxysmal cough) with inspiratory whoop post fit.
complications of coughing fits from whooping cough?
pneumothorax, faint or vomit. long term risk of bronchiectasis
infants may present differently with pertussis with instead
apnoeas
diagnosis of whooping cough is with
nasopharyngeal swab, PCR or bacterial culture.
management of whooping cough requires
supportive care and notifying public health. macrolide antibiotics and prophylactic antibiotics for contacts.
chronic lung disease of prematurity is also known as
bronchopulmonary dysplasia
chronic lung disease of prematurity occurs usually with those born before
28 weeks gestation
those born with chronic lung disease of prematurity usually require
oxygen therapy or intubation and ventilation at birth
Dx of chronic lung disease of prematurity
CXR
chronic lung disease of prematurity features
Low oxygen saturations Increased work of breathing Poor feeding and weight gain Crackles and wheezes on chest auscultation Increased susceptibility to infection
chronic lung disease of prematurity prevention is through
corticosteroids prior to birth, post caffeine, not over oxygenating and CPAP
CF is what sort of genetic condition?
autosomal recessive.
CF is a mutation of the
cystic fibrosis transmembrane conductance regulatory gene on chromosome 7
CF common mutation is the
delta-F508
CFTR gene in Cf codes for
cellular channels, particularly a type of chloride channel
fraction for carriers are
1/25
fraction of kids born with CF is
1/2500
consequences of CF includes
Thick pancreatic and biliary secretions, Low volume thick airway secretions, Congenital bilateral absence of the vas deferens
what pancreatic enzyme is missing in CF
pancreatic lipase
both parents are healthy, one sibling has cystic fibrosis and a second child does not have the disease, what is the likelihood of the second child being a carrier?
two in three.
CF is screened for at birth using
newborn bloodspot test.
first sign of CF is
Meconium ileus (thick and sticky bowel obstruction)
symptoms of CF are
Chronic cough Thick sputum production Recurrent respiratory tract infections (steatorrhoea) Abdominal pain and bloating child tastes particularly salty sweat (failure to thrive)
signs of CF
Low weight or height on growth charts Nasal polyps Finger clubbing Crackles and wheezes on auscultation Abdominal distention
during pregnancy CF may be tested for through
amniocentesis or chorionic villous sampling
sweat test requires
pilocarpine application and electrodes, then measure chloride concentration.
sweat test diagnostic point
> 60 mmol/l
key colonisers in CF is
staph aureus and pseudomonas
Staph aureus in CF is prevented with
prophylactic flucloxacillin
Pseudomonas in Cf can be attempted to treat with
long term nebulised antibiotics such as tobramycin or Oral ciprofloxacin
management of Cf includes
Chest PT, exercise, high calorie diet, CREON tablets (enzyme replacement), flucloxacillin, bronchodilators, nebulised DNase and hypertonic saline and vaccinations
other treatments for Cf include
organ transplant, fertility treatment and genetic counselling.
patients with CF may require monitoring for
diabetes, osteoporosis, vitamin D deficiency and liver failure.
life expectancy median in Cf is
47 years
kartagner’s syndrome refers too
primary ciliary dyskinesia
primary ciliary dyskinesia genetic spread is
autosomal recessive
key risk factor for primary ciliary dyskinesia is
consanguinity
kartagner’s triad is
Paranasal sinusitis
Bronchiectasis
Situs Inversus
situs inversus refers too
internal (visceral) organs are mirrored inside the body
when only the heart is reversed it is called
dextrocardia
Dx of primary ciliary dyskinesia is
sample of the ciliated epithelium via nasal brushing or bronchoscopy.
Mx of primary ciliary dyskinesia is through
daily physiotherapy, a high calorie diet and antibiotics.
medical causes of abdominal pain
Constipation is also very common Urinary tract infection Coeliac disease Inflammatory bowel disease Irritable bowel syndrome Mesenteric adenitis Abdominal migraine Pyelonephritis Henoch-Schonlein purpura Tonsilitis Diabetic ketoacidosis Infantile colic
common causes of abdominal pain in girls
Dysmenorrhea (period pain) Mittelschmerz (ovulation pain) Ectopic pregnancy Pelvic inflammatory disease Ovarian torsion Pregnancy
surgical causes of pain in kids
appendicitis
intussuception
bowel obstruction
testicular torsion
red flags of abdominal pain
Persistent or bilious vomiting Severe chronic diarrhoea Fever Rectal bleeding Weight loss or faltering growth Dysphagia (difficulty swallowing) Nighttime pain Abdominal tenderness
abdominal migraine refers too
episodes of central abdominal pain lasting more than 1 hour but with normal examination
abdominal migraine presentation
Nausea and vomiting Anorexia Pallor Headache Photophobia Aura
treatment of acute abdominal migraine
Low stimulus environment (quiet, dark room)
Paracetamol
Ibuprofen
Sumatriptan
main preventative drug for abdominal migraine is
Pizotifen
Pizotifen is
serotonin agonist
secondary causes of constipation include
Hirschsprung’s disease, cystic fibrosis or hypothyroidism.
encopresis refers too
faecal incontinence
signs of constipation
abdominal pain, overflow soiling, straining painful stool and retentive posturing.
faecal incontinence is no pathological until over the age of
4 years
faecal impaction (rectally retained faeces) leads too
desensitisation of the rectum.
red flags for constipation
not passing meconium, neuro signs, vomiting, ribbon stools, abnormal anus or buttocks, failure to thrive or pain and bloating.
nice recommends for constipation
laxatives, high fibre diet, hydration, disimpaction regime and bowel diary.
first line laxative in constipation is
movicol
signs of a problematic reflux include
Chronic cough Hoarse cry Distress, crying or unsettled after feeding Reluctance to feed Pneumonia Poor weight gain
red flags for vomiting include
not keeping down any feed, projectile vomiting, bile stained, haematemesis, abdominal distension, reduced consciousness, respiratory symptoms, blood in stools, rash, angiodema, signs of allergy, apnoeas and infection.
practical advice for reflux is
Small, frequent meals
Burping regularly to help milk settle
Not over-feeding
Keep the baby upright after feeding
problematic cases of reflux can be treated with
Gaviscon mixed with feeds
Thickened milk or formula (specific anti-reflux formulas are available)
Ranitidine
Omeprazole
severe causes of reflux may require
barium meal and endoscopy and rarely Surgical fundoplication
Sandifer’s Syndrome refers too
brief episodes of abnormal movements associated with gastro-oesophageal reflux
key features of sandifer’s syndrome is
torticollis and dystonia
torticollis refers too
forceful contraction of the neck muscles causing twisting of the neck
dystonia refers too
abnormal muscle contractions causing twisting movements, arching of the back or unusual postures
West syndrome refers too
infantile spasms
features of pyloric stenosis are
failure to thrive, projectile vomiting, firm mass “large olive”, visible peristalsis
blood gas analysis of pyloric stenosis will reveal
hypochloric (low chloride) metabolic alkalosis
Dx of pyloric stenosis is through
abdominal US
treatment of pyloric stenosis is
laparoscopic pyloromyotomy (known as “Ramstedt’s operation“)
viral causes of diarrhoea include
rotavirus and norovirus
what virus causes subacute diarrhoea?
adenovirus
what bacteria produces shiga toxin
E. coli 0157 and shigella
shiga toxin from E. coli 0157 may cause
haemolytic uraemic syndrome
commonest cause of traveller’s diarhroea is
campylobacter jejuni
campylobacter is what sort of bacteria?
curved or spiral gram negative
spread of campylobacter is through
Raw or improperly cooked poultry
Untreated water
Unpasteurised milk
symptoms of campylobacter is
Abdominal cramps
Diarrhoea often with blood
Vomiting
Fever
incubation of campylobacter is
2-5 days
antibiotic choices for campylobacter are
azithromycin or ciprofloxacin.
antibiotic treatment for shigella is
azithromycin or ciprofloxacin.
shigella causes
bloody diarrhoea, abdominal cramps and fever for usually 1 week
salmonella incubation is for
12 hours to 3 days
symptoms of salmonella is
diarrhoea that can be associated with mucus or blood, abdominal pain and vomiting.
severe cases of salmonella treatment should be guided by
stool culture
patient develops symptoms of gastroenteritis soon after eating leftover fried rice that has been left at room temperature. It has a short incubation period after eating the rice before symptoms occur, and they recover within 24 hours. what was the causitive bacteria?
bacillus cereus
bacillus cereus type of bacteria?
gram positive rod
bacillus cereus toxin is called
cereulide
symptoms of bacillus cereus are
abdominal cramping and vomiting within 5 hours of ingestion and watery diarrhoea
Yersinia is an example of what sort of bacteria?
gram negative bacillus
what animal is a key carrier of yersinia
pigs
yersinia symptoms in children are
watery or bloody diarrhoea, abdominal pain, fever and lymphadenopathy.
older children with yersinia entercolitica may present with
ight sided abdominal pain due mesenteric lymphadenitis (inflammation in the intestinal lymph nodes) and fever.
Staph aureus can produce what type of toxin?
enterotoxin.
giardia lamblia is a
microscopic parasite
giardia lamblia lives in the
small intestine of mammals
giardia lamblia spreads via the
faecal oral transmission
diagnosis and treatment of giardia lamblia is via
stool microscopy and metronidazole.
principles of gastroenteritis management
barrier nursing, infection control, fluid challenge or rehydration solutions
post gastroenteritis complications include
Lactose intolerance
Irritable bowel syndrome
Reactive arthritis
Guillain–Barré syndrome
coeliac disease refers to
an autoimmune condition triggered by exposure to gluten
coeliac auto antibodies target
epithelial cells of the intestine
key coeliac antibodies to remember are
anti-tissue transglutaminase (anti-TTG) and anti-endomysial (anti-EMA).
coeliac disease particularly causes atrophy and inflammation of the
intestinal villi of the jejunum
symptoms of coeliac disease may include
Failure to thrive in young children Diarrhoea Fatigue Weight loss Mouth ulcers Anaemia secondary to iron, B12 or folate deficiency Dermatitis herpetiformis
genetic association with coeliac disease is
HLA-DQ2 gene
what type of antibody is anti-TTG and anti-EMA
IgA
diagnostic gold standard of coeliac disease is through
biopsy of the jejenum revealing crypt hypertrophy and villous atrophy
features of Crohn’s disease
N – No blood or mucus (these are less common in Crohns.)
E – Entire GI tract
S – “Skip lesions” on endoscopy
T – Terminal ileum most affected and Transmural (full thickness) inflammation
S – Smoking is a risk factor (don’t set the nest on fire)
features of ulcerative colitis
C – Continuous inflammation L – Limited to colon and rectum O – Only superficial mucosa affected S – Smoking is protective E – Excrete blood and mucus U – Use aminosalicylates P – Primary sclerosing cholangitis
presentation of IBD is
perfuse diarrhoea, abdominal pain, bleeding, weight loss or anaemia. They may be systemically unwell during flares, with fevers, malaise and dehydration.
extra intestinal manifestations of IBD include
Finger clubbing Erythema nodosum Pyoderma gangrenosum Episcleritis and iritis Inflammatory arthritis Primary sclerosing cholangitis (ulcerative colitis)
testing for IBD includes
faecal calprotectin, endoscopy, CT, MRI, biopsy (gold standard) and CRP with FBC, U+E, TSH and LFT
first line for inducing remission for crohn’s is through
steroids
Crohn’s specialist treatment for inducing remission is through
Azathioprine Mercaptopurine Methotrexate Infliximab Adalimumab
maintaining remission for crohn’s disease is through first line
Azathioprine
Mercaptopurine
surgical options for crohn’s disease
resect if limited to distal ileum, or treat strictures and fistulae’s.
inducing remission for ulcerative colitis is through first line
aminosalicylate (e.g. mesalazine oral or rectal)
second line for mild UC remission treatment
corticosteroids (e.g. prednisolone)
maintaining remission in UC is through
Aminosalicylate (e.g. mesalazine oral or rectal)
Azathioprine
Mercaptopurine
surgical options for UC include
panproctocolectomy with permanent ileostomy or ileo-anal anastomosis (J-pouch)
biliary atresia refers too
narrow or absent bile duct
biliary atresia results in
cholestasis
biliary atresia prevents the excretion of
conjugated bilirubin.
biliary atresia presents with
significant jaundice due to high conjugated bilirubin levels
suspect biliary atresia in children with
babies with a persistent jaundice, lasting more than 14 days in term babies and 21 days in premature babies
initial investigation for biliary atresia is with
is conjugated and unconjugated bilirubin.
majority of cases with neonatal jaundice are due to
benign breast milk jaundice
management of biliary atresia is through
“Kasai portoenterostomy
Kasai portoenterostomy refers too
attaching a section of the small intestine to the opening of the liver, where the bile duct normally attaches
long term biliary atresia commonly requires
full liver transplant
presentation of intestinal obstruction
Persistent vomiting. This may be bilious, containing bright green bile.
Abdominal pain and distention
Failure to pass stools or wind
Abnormal bowel sounds. These can be high pitched and “tinkling” early in the obstruction and absent later.
diagnosis of intestinal obstruction
AXR
abdominal AXR of obstruction reveals
dilated loops of bowel, collapsed loops of bowel distal to the obstruction and absence of air in the rectum.
management of intestinal obstruction requires
nil by mouth, nasogastric tube to drain the stomach and IV fluids.
congenital condition with the absence of bowel and rectal nerves refer too
Hirschsprung’s disease
myenteric plexus is also known as
Auerbach’s plexus
myenteric plexus is responsible for
peristalsis
the key pathophysiology of hirschsprung’s disease is
absence of parasympathetic ganglion cells from the myenteric plexus due to failure of migration from proximal to distal gut
what occurs to the aganglionic bowel in hirschsprung’s disease
constriction.
syndromes related to hirschsprung’s disease
Downs syndrome
Neurofibromatosis
Waardenburg syndrome
Multiple endocrine neoplasia type II
Waardenburg syndrome refers too
(a genetic condition causing pale blue eyes, hearing loss and patches of white skin and hair)
presentation of hirschprung’s disease is
Delay in passing meconium (more than 24 hours) Chronic constipation since birth Abdominal pain and distention Vomiting Poor weight gain and failure to thrive
hat life threatening complication is there of hirschsprung’s disease?
Hirschsprung-Associated Enterocolitis which can lead too toxic megacolon and perforation of the bowel.
Hirschsprung-Associated Enterocolitis presents
within 2-4 weeks of birth with distension and diarrhoea with blood and septic signs
treatment of Hirschsprung-Associated Enterocolitis is
antibiotics, fluid resuscitation and decompression
diagnosis of Hirschsprung’s disease is through
rectal biopsy
definitive treatment of Hirschsprung’s is
surgical removal of aganglionic section of bowel.
intussusception commonly occurs between what ages
It typically occurs in infants 6 months to 2 years and is more common in boys.
associated conditions with intussusception
Concurrent viral illness Henoch-Schonlein purpura Cystic fibrosis Intestinal polyps Meckel diverticulum
presentation of intussusception
Severe, colicky abdominal pain Pale, lethargic and unwell child “Redcurrant jelly stool” Right upper quadrant mass on palpation. This is described as “sausage-shaped” Vomiting Intestinal obstruction
diagnosis of intussusception is through
US or contrast enema
treatment of intussusception is with
surgical reduction, or therapeutic enema
peak incidence of appendicitis is between ages of
10 to 20 years old.
key presentation of appendicitis is
his typically starts as central abdominal pain, that moves down to the right iliac fossa (RIF)
McBurney’s point refers too
localised area one third the distance from the anterior superior iliac spine (ASIS) to the umbilicus.
appendicitis Rovsing’s sign is
palpation of the left iliac fossa causes pain in the RIF)
Rebound tenderness and percussion tenderness suggest
peritonitis, caused by a ruptured appendix.
other symptoms of appendicitis include
Loss of appetite (anorexia)
Nausea and vomiting and guarding.
diagnosis of appendicitis is through
inflammatory markers, CT, US then a diagnostic laparoscopy.
differentials of appendicitis
ovarian cysts, meckel’s diverticulum, mesenteric adenitis, appendix mass
type 1 diabetes may be caused by what viruses?
Coxsackie B virus and enterovirus
ideal blood glucose is between?
between 4.4 and 6.1 mmol/l.
Baby UTI presentation?
Fever Lethargy Irritability Vomiting Poor feeding Urinary frequency
signs and symptoms of UTI in children?
Fever Abdominal pain, particularly suprapubic pain Vomiting Dysuria (painful urination) Urinary frequency Incontinence
acute pyelonephritis presentation is through
A temperature greater than 38°C
Loin pain or tenderness
Ix of UTI is through
clean catch urine with evidence of leukocytes and nitrites and a Midstream urine sample with culture and sensitivity testing.
children under 3 months with a fever should receive
IV antibiotics (e.g. ceftriaxone) and have a full septic screen, including blood cultures, bloods and lactate. A lumbar puncture should also be considered.
typical antibiotics for a UTI are
Trimethoprim
Nitrofurantoin
Cefalexin
Amoxicillin
all children under 6 months with a UTI should also receive a
US
all children with recurrent UTI’s should receive a US within
6 weeks
damage from recurrent UTI’s should receive what post 4-6 months to asses the damage?
DMSA scan
DMSA scan requires
gamma camera to assess how well the material is taken up by the kidneys. to indicate scarring
what condition predisposes to upper UTI’s
Vesico-ureteric reflux
Vesico-ureteric reflux is diagnosed through
micturating cystourethrogram (MCUG).
micturating cystourethrogram (MCUG). should be used to investigate recurrent UTI’s in those under the age of
<6 months or if FH present of VUR
micturating cystourethrogram (MCUG). involves
It involves catheterising the child, injecting contrast into the bladder and taking a series of xray films
vulvovaginitis presents as
Soreness Itching Erythema around the labia Vaginal discharge Dysuria (burning or stinging on urination) Constipation
urine dipstick of a vulvovaginitis will show
leukocytes but no nitrates
nephrotic syndrome occurs when
the basement membrane in the glomerulus becomes highly permeable to protein,
nephrotic syndrome is common between the ages of
of 2 and 5 years.
the classic triad of nephrotic syndrome is
Low serum albumin
High urine protein content (>3+ protein on urine dipstick)
Oedema
other features that appear alongside nephrotic syndrome
Deranged lipid profile, with high levels of cholesterol, triglycerides and low density lipoproteins
High blood pressure
Hyper-coagulability
most common cause of nephrotic syndrome in children under the age of ten is
minimal change disease
secondary causes of nephrotic syndrome secondary to intrinsic kidney disease includes
Focal segmental glomerulosclerosis
Membranoproliferative glomerulonephritis
systemic illnesses that may also cause nephrotic syndrome include
Henoch schonlein purpura (HSP)
Diabetes
Infection
renal biopsy and microscopy of minimal change disease will show
usually no abnormality
urinalysis of minimal change disease will usually show
small molecular weight proteins and hyaline casts.
management of minimal change disease is with
corticosteroids
2 – 5 year old child with oedema, proteinuria and low albumin, what is the underlying cause?
nephrotic syndrome.
nephrotic syndrome treatment is with
High dose steroids (i.e. prednisolone)
Low salt diet
Diuretics may be used to treat oedema
Albumin infusions may be required in severe hypoalbuminaemia
Antibiotic prophylaxis may be given in severe cases
alternative treatment for steroid resistant nephrotic syndrome is
ACE inhibitors and immunosuppressants
nephritis causes
Reduction in kidney function
Haematuria: invisible or visible amounts of blood in the urine
Proteinuria: although less than in nephrotic syndrome
commonest causes of nephritis is
post-streptococcal glomerulonephritis and IgA nephropathy (Berger’s disease).
Post-Streptococcal Glomerulonephritis occurs
1 – 3 weeks after a β-haemolytic streptococcus infection, such as tonsillitis caused by Streptococcus pyogenes
pathophysiology of post streptococcal glomerulonephritis
Immune complexes made up of streptococcal antigens, antibodies and complement proteins get stuck in the glomeruli of the kidney and cause inflammation. This inflammation leads to an acute deterioration in renal function, causing an acute kidney injury.
Ix of Post-Streptococcal Glomerulonephritis is with
, positive throat swab results and anti-streptolysin antibody titres found on a blood test.
majority of patients with post streptococcal glomerulonephritis will recover but some will require
They may need treatment with antihypertensive medications and diuretics if they develop complications such as hypertension and oedema.
IgA Nephropathy is related too
Henoch-Schonlein Purpura, which is an IgA vasculitis
IgA nephropathy pathology
IgA deposits in the nephrons of the kidney causes inflammation
renal biopsy of IgA nephropathy will show
“IgA deposits and glomerular mesangial proliferation”.
IgA nephropathy usually presents in
teenagers or young adults.
Tx of IgA nephropathy is with
supportive treatment of the renal failure and immunosuppressant medications such as steroids and cyclophosphamide
Haemolytic Uraemic Syndrome is triad of
Haemolytic anaemia, AKI and thrombocytopenia
management of HUS requires
Urgent referral to the paediatric renal unit for renal dialysis if required
Antihypertensives if required
Careful maintenance of fluid balance
Blood transfusions if required
enuresis refers too as
involuntary urination
most children develop control of daytime urination by
2 years
most children develop control of night time urination by
3-4 years
Primary nocturnal enuresis refers too
the child has never managed to be consistently dry at night.
causes of primary nocturnal enuresis
overactive bladder, fluid intake, failure to wake, psychological distress or chronic conditions
Secondary Nocturnal Enuresis refers too
wetting the bed when they have previously been dry for at least 6 months
causes of secondary nocturnal enuresis include
Urinary tract infection Constipation Type 1 diabetes New psychosocial problems (e.g. stress in family or school life) Maltreatment
nocturnal enuresis may be treated with
Desmopressin is an analogue of vasopressin (also known as anti-diuretic hormone).
over active bladder may be treated with
Oxybutinin
what form of polycystic kidney disease presents earlier in life
autosomal recessive polycystic kidney disease
Autosomal recessive polycystic kidney disease (ARPKD) is caused by a mutation of
polycystic kidney and hepatic disease 1 (PKHD1) gene on chromosome 6.
polycystic kidney and hepatic disease 1 (PKHD1) gene on chromosome 6 codes for
fibrocystin/polyductin protein complex (FPC)
fibrocystin/polyductin protein complex (FPC) is responsible for
the creation of tubules and the maintenance of healthy epithelial tissue in the kidneys, liver and pancreas.
underlying pathology of Autosomal recessive polycystic kidney disease (ARPKD) is
Cystic enlargement of the renal collecting ducts
Oligohydramnios, pulmonary hypoplasia and Potter syndrome
Congenital liver fibrosis
ARPKD usually presents in the antenatal period with
oligohydramnios and polycystic kidneys seen on antenatal scans
lack of amniotic fluid causes
Potter syndrome and pulmonary hypoplasia
Potter syndrome refers too
underdeveloped ear cartilage, low set ears, a flat nasal bridge and abnormalities of the skeleton
outcomes of polycystic kidney disease are
Liver failure due to liver fibrosis Portal hypertension leading to oesophageal varices Progressive renal failure Hypertension due to renal failure Chronic lung disease
survival rate to adulthood for polycystic kidney disease
1/3rd
Multicystic dysplastic kidney (MCDK) is diagnosed
on antenatal US
a child under the age of 5 years presenting with a mass in the abdomen. consider
Wilm’s tumour
Wilm’s tumour presentation
Abdominal pain Haematuria Lethargy Fever Hypertension Weight loss
diagnosis of wilm’s tumour is through
US then CT or MRI to stage and definitively biopsy with histology
management of wilm’s tumour is with
nephrectomy with adjuvant chemo or RT
posterior urethral valve is a cause of
hydronephrosis
posterior urethral valve presents with
Difficulty urinating Weak urinary stream Chronic urinary retention Palpable bladder Recurrent urinary tract infections Impaired kidney function
posterior urethral valve ix
antenatal scans or abdo US, MCUG, cystoscopy which can also ablate the tissue.
Undescended testes increase risk of
testicular torsion, infertility and testicular cancer
undescended testes post 6 months will require
Orchidopexy
Hypospadias refers too
posterior urethral meatus
hydrocele is a collection of fluid within the
tunica vaginalis
tunica vaginalis can communicate with the peritoneal cavity via
the processus vaginalis
hydrocele presentation is
soft, smooth, non-tender swelling around one of the testes.
key feature of a hydrocele is that it
transilluminates with light
differentials for a hydrocele include
Hydrocele Partially descended testes Inguinal hernia Testicular torsion Haematoma Tumours (rare)
surfactant is produced by
type 2 alveolar cells
type 2 alveolar cells mature around what weeks of gestation?
24 and 34 weeks
extended hypoxia during child birth may lead too
hypoxic-ischaemic encephalopathy (HIE),
hypoxic-ischaemic encephalopathy (HIE), may lead too
cerebral palsy
issues with neonatal resus
babies have a large surface area, they loos heat rapidly and risk of meconium inhalation.
principles of neonatal resus
warm the baby calculate APGAR score stimulate breathing inflation breaths and chest compressions
how best to stimulate breathing in a neonate in resus
neutral position to keep airway open with a towel under shoulders
cycle of breaths in neonate resus
Two cycles of five inflation breaths. No response the 30 seconds of ventilation breaths.
chest compression to breath ratio
3:1
APGAR score consists of
appearance, pulse, grimmace, activity, and respiration
score 0 on APGAR would be
blue baby, absent pulse, no response to stimulation, floppy and absent respirations.
APGAR score 2 for pulse would be
> 100
max APGAR score is
10
delayed cord clamping is beneficial for
improved haemoglobin, iron stores and blood pressure and a reduction in intraventricular haemorrhage and necrotising enterocolitis
immediately afterbirth you should seek to
Skin to skin Clamp the umbilical cord Dry the baby Keep the baby warm with a hat and blankets Vitamin K Label the baby Measure the weight and length
Vit K to the baby is via a
IM injection
on day 5 what neonate screening test is under taken?
day 5
blood spot screening test screens for
Sickle cell disease Cystic fibrosis Congenital hypothyroidism Phenylketonuria Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) Maple syrup urine disease (MSUD) Isovaleric acidaemia (IVA) Glutaric aciduria type 1 (GA1) Homocystin
results for a blood spot test take how many weeks to come back?
6-8 weeks
newborn examination is undertaken how many hours after birth?
72 hours
neonate sats should be measured as
pre ductal and post ductal
what would be considered pathological difference in ductal sats
> 2%
pre ductal sats are measured in the
right hand
the right hand receives blood from the
right subclavian artery, a branch of the brachiocephalic artery, which branches from the aorta before the ductus arteriosus.
post ductal sats are measured from the
feet
red reflex is absent in
congenital cataracts and retinoblastoma.
single palmar crease is associated with
down’s syndrome
moro reflex is the
when rapidly tipped backwards the arms and legs will extend
rooting reflex is the
tickling the cheek will cause them to turn towards the stimulus
stepping reflex is the
when held upright and the feet touch a surface they will make a stepping motion
talipes refer too
the ankles are in a supinated position, rolled inwards
Port wine stains refer too
pink patches of skin, often on the face, caused by abnormalities affecting the capillaries.
sturge weber syndrome refers too
visual impairment,port wine stains and learning difficulties, headaches, epilepsy and glaucoma.
examples of birth injures?
Caput Succedaneum, Cephalohaematoma, Facial Paralysis, Erbs Palsy and Fractured Clavicle
refers too
oedema collecting on the scalp outside the periosteum.
does caput succedeneum (oedema) cross the suture lines?
yes
the presence of a cephalohaematoma requires the monitoring for
anaemia, jaundice and resolution
Erb’s palsy is damage to the
C5/C6 nerves in the brachial plexus during birth.
Erb’s palsy presentation
Internally rotated shoulder
Extended elbow
Flexed wrist facing backwards (pronated)
Lack of movement in the affected arm
common organism for neonatal sepsis is
Group B streptococcus (GBS)
features of neonatal sepsis
Fever Reduced tone and activity Poor feeding Respiratory distress or apnoea Vomiting Tachycardia or bradycardia Hypoxia Jaundice within 24 hours Seizures Hypoglycaemia
red flags for neonatal sepsis
Confirmed or suspected sepsis in the mother
Signs of shock
Seizures
Term baby needing mechanical ventilation
Respiratory distress starting more than 4 hours after birth
Presumed sepsis in another baby in a multiple pregnancy
for one risk factor of neonatal sepsis you should
monitor the observations and clinical condition for at least 12 hours
for two risk factors of neonatal sepsis you should
start antibiotics
first line antibiotics for neonatal sepsis are
benzylpenicillin and gentamycin
causes of Hypoxic-Ischaemic Encephalopathy
Maternal shock
Intrapartum haemorrhage
Prolapsed cord, causing compression of the cord during birth
Nuchal cord, where the cord is wrapped around the neck of the baby
Hypoxic-Ischaemic Encephalopathy grading is called
sarnat staging
Hypoxic-Ischaemic Encephalopathy mild features
Poor feeding, generally irritability and hyper-alert
Resolves within 24 hours
Normal prognosis
Hypoxic-Ischaemic Encephalopathy moderate features
Poor feeding, lethargic, hypotonic and seizures
Can take weeks to resolve
Up to 40% develop cerebral palsy
Hypoxic-Ischaemic Encephalopathy severe features
Reduced consciousness, apnoeas, flaccid and reduced or absent reflexes
Up to 50% mortality
Up to 90% develop cerebral palsy
managements of Hypoxic-Ischaemic Encephalopathy
MDT, supportive and therapeutic hypothermia
intention of therapeutic hypothermia is to
reduce the inflammation and neurone loss
physiological jaundice mechanism
fragile RBC’s, less developed liver function
in preamture neonates the immature liver puts the neonates at risk of
kernicterus.
kernicterus is
brain damage due to high bilirubin levels
prolonged jaundice is classified as how long with full term babies?
14 days
prolonged jaundice is classified as how long in premature babies?
21 days
causes of prolonged jaundice in the neonate
biliary atresia, hypothyroidism and G6PD deficiency.
direct coombs test is for
haemolysis
neonatal jaundice may be corrected through
phototherapy, or sometimes exchange transfusion.
phototherapy mechanism
converts unconjugated bilirubin into isomers for urine and bile excretion without conjugation.
phototherapy rebound bilirubin should be measured
12-18 hours after stopping
kernicterus presents with
less responsive, floppy, drowsy baby with poor feeding.
apnoeas are defined as periods of
breathing stops spontaneously for more than 20 seconds, or shorter periods with oxygen desaturation or bradycardia.
apnoeas occurs due to immaturity of the
autonomic nervous system
apnoeas may be a sign of
Infection Anaemia Airway obstruction (may be positional) CNS pathology, such as seizures or haemorrhage Gastro-oesophageal reflux Neonatal abstinence syndrome
apnoeas may be managed through
tactile stimulation, I.V caffeine and apnoea monitors
retinal blood vessel development starts around what weeks and is completed by
16 weeks and completed by 37 - 40 weeks
retinal blood vessel development is stimulated by
hypoxia
post delivery for a premature neonate after support and hypoxia returns what occurs with the retinal vessels?
excessive and scarred blood vessels that may regress or cause retinal detachment
zone 1 of the retina includes
optic nerve and the macula
zone 2 of the retina includes
ora serrata, the pigmented boarder between the retina and ciliary body
zone 3 of the retina includes
ora serrata
premature retinopathy plus disease refers too
tortuous vessels and hazy vitreous humour.
screening for premature retinopathy should occurs
for every baby <32W or <1.5kg and for every 2 weeks and can cease once the retinal vessels enter zone 3, usually at around 36 weeks gestation.
first line treatment for premature retinopathy
transpupillary laser photocoagulation
treatment for premature retinopathy alternatives
cryotherapy and injections of intravitreal VEGF inhibitors, Surgery
CXR or respiratory distress syndrome demonstrates
ground glass
presentation of Necrotising Enterocolitis
Intolerance to feeds Vomiting, particularly with green bile Generally unwell Distended, tender abdomen Absent bowel sounds Blood in stools
Necrotising Enterocolitis Ix
FBC, CRP, capillary blood gas for metabolic acidosis, blood culture, AXR
AXR in necrotising enterocolitis demonstrates
dilated bowel, oedema, pneumatosis intestinalis (gas in bowel wall), pneumoperitoneum (free gas in peritoneal cavity), gas in portal veins.
necrotising enterocolitis Tx
nil by mouth with IV fluids, total parenteral nutrition (TPN) and antibiotics. surgical emergency.
necrotising enterocolitis carries what risk post op
Short bowel syndrome
CNS Signs of neonatal abstinence
Irritability Increased tone High pitched cry Not settling Tremors Seizures
Vasomotor and respiratory Signs of neonatal abstinence:
Yawning
Sweating
Unstable temperature and pyrexia
Tachypnoea (fast breathing)
Metabolic and gastrointestinal: signs of neonatal abstinence
Poor feeding
Regurgitation or vomiting
Hypoglycaemia
Loose stools with a sore nappy area
management of neonatal abstinence syndrome
NAS chart for at least 3 days with urine samples
opiate withdrawal in neonates require
Oral morphine sulphate
non-opiate withdrawal in neonates require
Oral phenobarbitone
fetal alcohol syndrome presents as
Microcephaly (small head) Thin upper lip Smooth flat philtrum (the groove between the nose and upper lip) Short palpebral fissure (short horizontal distance from one side of the eye and the other) Learning disability Behavioural difficulties Hearing and vision problems Cerebral palsy
congenital rubella syndrome presentation
Congenital cataracts
Congenital heart disease (PDA and pulmonary stenosis)
Learning disability
Hearing los
Congenital Toxoplasmosis presentation
Intracranial calcification
Hydrocephalus
Chorioretinitis
congenital cytomegalovirus presentation
Fetal growth restriction Microcephaly Hearing loss Vision loss Learning disability Seizures
zika virus is spread by the
Aedes mosquitos
zika congenital syndrome
Microcephaly
Fetal growth restriction
Other intracranial abnormalities, such as ventriculomegaly and cerebellar atrophy
acceptable weight loss in babies are
breast fed babies to loose up to 10% and formula fed babies to loose up to 5% of their body weight by day 5
if a child is on the 91st centile for height this means?
she is taller than 91% of children her age.
three phases of growth are
First 2 years: rapid growth driven by nutritional factors
From 2 years to puberty: steady slow growth
During puberty: rapid growth spurt driven by sex hormones
overweight is defined as a BMI above what centile?
85th percentile
obese is defined as being above what centile?
above the 95th percentile
mid parental height =
(height of mum + height of dad) / 2.
initial investigations for faltering growth
Urine dipstick, for urinary tract infection Coeliac screen (anti-TTG or anti-EMA antibodies)
boys predicated height formula
(mother height + fathers height + 14cm) / 2
girls predicated height formula
(mothers height + father height – 14cm) /
Constitutional Delay In Growth and Puberty refers too
short stature in childhood when compared with peers but normal height in adulthood
Constitutional Delay In Growth and Puberty key feature
delayed bone age
4 domains of child development
Gross motor
Fine motor
Language
Personal and social
gross motor 4 months
This starts with being able to support their head and keep it in line with the body
gross motor 6 months
They can keep their trunk supported on their pelvis (i.e. maintain a sitting position) by 6 months, however they often don’t have the balance to sit unsupported at this stage.
gross motor 9 months
They should sit unsupported by 9 months. They can start crawling at this stage. They can also keep their trunk and pelvis supported on their legs (i.e. maintain a standing position) and bounce on their legs when supported.
gross motor 12 months
They should stand and begin cruising (walking whilst holding onto furniture).
gross motor 15 months
Walk unaided.
gross motor 18 months
Squat and pick things up from the floor.
gross motor 2 years
Run. Kick a ball.
fine motor early milestones 6 months:
Palmar grasp of objects (wraps thumb and fingers around the object).
fine motor early milestones 9 months:
Scissor grasp of objects (squashes it between thumb and forefinger).
fine motor early milestones
Pincer grasp (with the tip of the thumb and forefinger).
fine motor early milestones 14-18 months
They can clumsily use a spoon to bring food from a bowl to their mouth
fine motor drawing skills 12 months
Holds crayon and scribbles randomly
fine motor skills tower of bricks 14 months
Tower of 2 bricks
fine motor skills tower of bricks 18 months
Tower of 4 bricks
fine motor skills pencil grasp under 2 years
Palmar supinate grasp (fist grip)
expressive language milestones month 3
Cooing noises
expressive language milestones month 9
Babbles, sounding more like talking but not saying any recognisable words
expressive language milestones month 12
Says single words in context, e.g. “Dad-da” or “Hi”
expressive language milestones month 18
Has around 5 – 10 words
expressive language milestones 2 years
Combines 2 words. Around 50+ words total.
receptive language milestones month 3
Recognises parents and familiar voices and gets comfort from these
receptive language milestones month 5
Listens to speech
receptive language milestones month 12
Follows very simple instructions
receptive language milestones 2 years
Understands verbs, for example “show me what you eat with”
personal and social milestones week 6
smiles
personal and social milestones month 3
Communicates pleasure
personal and social milestones month 12
Engages with others by pointing and handing objects. Waves bye bye. Claps hands.
personal and social milestones month 18
Imitates activities such as using a phone
not sitting unsupported is a red flag at what month?
12
not holding an object is a red flag at what month?
5
not standing independently is a red flag at what month?
18
not walking independently at how many years is a red flag?
2 years
global developmental delay differentials
Down’s syndrome Fragile X syndrome Fetal alcohol syndrome Rett syndrome Metabolic disorders
gross motor delay differentials
Cerebral palsy Ataxia Myopathy Spina bifida Visual impairment
fine motor delays differentials
Dyspraxia Cerebral palsy Muscular dystrophy Visual impairment Congenital ataxia
language delays differentials
Hearing impairment Learning disability Neglect Autism Cerebral palsy
personal and social delay differentials
Parenting issues
Autism
dysgraphia refers too
refers to a specific difficulty in writing.
dyspraxia refers too
developmental co-ordination disorder
capacity requires you to demonstrate
understanding, retaining info, weighing up options and communication
klinefleter’s syndrome chromosomes
XXY
turner’s syndrome chromosomes
XO
legal framework for children safeguarding is
Children Act 1989
both parents are carriers of an autosomal recessive condition, what is the chance of the children having the condition?
have a 1 in 4 (or 25%) of having the disease,
one parent has an autosomal recessive disease, and the other parent is a carrier. what is the chance of the children being inflicted?
Therefore the children of these parents have a 50% chance of having the disease and a 50% chance of being a carrier.
both parents are healthy, one sibling has a single gene disease (e.g. cystic fibrosis) disease, a second child does not have the disease, what is the likelihood of the second child being a carrier.
the risk of the second child being a carrier is 2 in 3. this is because we know that they do not have the phenotype of the disease.
example of deletion disorder?
cri du chat, which is caused by a missing portion of chromosome 5
example of duplication disorder
Charcot-Marie-Tooth, which can be caused by a duplication of the short arm of chromosome 17.
translocation disorder example
“Philadelphia chromosome” translocation in acute myeloid leukaemia, which is a reciprocal translocation between chromosome 9 and chromosome 22.
acrocentric chromosome examples
13, 14, 15, 21 and 22. They have one long arm and one short arm.
Robertsonian translocation refers too
acrocentric chromosome loosing its short arm
patau syndrome is a
trisomy 13
patau syndrome causes
ysmorphic features, structural abnormalities affecting almost all areas of their body and learning disability. They have characteristic “rocker bottom feet”,
edward syndrome is
trisomy 18
edward syndrome causes
resulting in dysmorphic features and learning disability. They also have “rocker bottom feet”.
in sex cells male mitochondria is located in the
the tail
mitochondrial DNA inheritance comes from the
mother
down syndrome features
Hypotonia (reduced muscle tone) Brachycephaly (small head with a flat back) Short neck Short stature Flattened face and nose Prominent epicanthic folds Upward sloping palpable fissures Single palmar crease
complications for down syndrome
Learning disability
Recurrent otitis media
Deafness. Eustachian tube, Visual problems, Hypothyroidism, Cardiac defects, Atlantoaxial instability, Leukaemia, Dementia
combined test screening for down’s biochemical results that indicate high risk
BHCG high, PAPPA low
klinefelter syndrome features
Taller height Wider hips Gynaecomastia Weaker muscles Small testicles Reduced libido Shyness Infertility Subtle learning difficulties
klinefelter syndrome treatment
Testosterone injections
Advanced IVF techniques
Breast reduction surgery +
MDT
features of Turner’s syndrome
Short stature Webbed neck High arching palate Downward sloping eyes with ptosis Broad chest with widely spaced nipples Cubitus valgus Underdeveloped ovaries with reduced function Late or incomplete puberty Most women are infertile
cubitus valgus refers too
arm is extended downwards with the palms facing forward, the angle of the forearm at the elbow is exaggerated, angled away from the body.
management of turner’s syndrome involves
GH therapy, oestrogen, progesterone and fertility treatment
noonan syndrome transmission
autosomal dominant
features of noonan syndrome
Short stature Broad forehead Downward sloping eyes with ptosis Hypertelorism (wide space between the eyes) Prominent nasolabial folds Low set ears Webbed neck Widely spaced nipples
noonan syndrome associated conditions
Congenital heart disease, Cryptorchidism, Learning disability
Bleeding disorders
Lymphoedema, increased risk of leukaemia and neuroblastoma
marfan syndrome genetic transmission
autosomal dominant
pathology of marfan
affecting the gene responsible for creating fibrillin
features of marfan syndrome
Tall stature Long neck Long limbs Long fingers (arachnodactyly) High arch palate Hypermobility Pectus carinatum or pectus excavatum Downward sloping palpable fissures
associated conditions with marfan
Lens dislocation in the eye
Joint dislocations and pain due to hypermobility
Scoliosis of the spine
Pneumothorax
Gastro-oesophageal reflux
Mitral valve prolapse (with regurgitation)
Aortic valve prolapse (with regurgitation)
Aortic aneurysms
meet someone with tall, has hypermobility or a murmur suggestive of mitral or aortic regurgitation what do you think of?
marfan syndrome
management of marfan’s involves
surgical correction of aortic aneurysms, avoiding stimulants and intense exercise, betablockers and ARB’s, PT, genetic counselling and yearly ECHO
features of fragile x syndrome
Intellectual disability Long, narrow face Large ears Large testicles after puberty Hypermobile joints (particularly in the hands) Attention deficit hyperactivity disorder (ADHD) Autism Seizures
prada willi syndrome arises from
deletion mutation of the proximal arm of chromosome 15 from the father
features of prada willi syndrome
Constant insatiable hunger that leads to obesity
Poor muscle tone as an infant (hypotonia)
Mild-moderate learning disability
Hypogonadism
Fairer, soft skin that is prone to bruising
Mental health problems, particularly anxiety
Dysmorphic features
Narrow forehead
Almond shaped eyes
Strabismus
Thin upper lip
Downturned mouth
NICE indicates for prada willi syndrome
Growth hormone to imrpove muscle and body composition
angelman syndrome is caused by the loss of which gene
UBE3A gene
angelman syndrome is due to a deletion on which chromosome
chromosome 15
features of angelman syndrome
Delayed development and learning disability Severe delay or absence of speech development Coordination and balance problems (ataxia) Fascination with water Happy demeanour Inappropriate laughter Hand flapping Abnormal sleep patterns Epilepsy Attention-deficit hyperactivity disorder Dysmorphic features Microcephaly Fair skin, light hair and blue eyes Wide mouth with widely spaced teeth
william syndrome is caused by deletion on what chromosome?
7
features of william syndrome ?
Broad forehead Starburst eyes (a star-like pattern on the iris) Flattened nasal bridge Long philtrum Wide mouth with widely spaced teeth Small chin Very sociable trusting personality Mild learning disability
associated conditions with william syndrome
Supravalvular aortic stenosis (narrowing just above the aortic valve)
Attention-deficit hyperactivity disorder
Hypertension
Hypercalcaemia
features of syncope that differentiate it from a seizure
lightheaded, prolonged upright, sweating, blurring of vision, reduced tone, return to consciousness shortly after falling, no prolonged post-ictal period
generalised tonic clonic seizures associated with
tongue biting, incontinence, groaning and irregular breathing.
first line for generalised tonic-clonic seizure
sodium valproate
second line for generalised tonic clonic seizure
lamotrigine or carbamazepine
focal sezirues start in the
temporal lobes
focal seizures present with
Hallucinations
Memory flashbacks
Déjà vu
Doing strange things on autopilot
first line focal seizure treatment is
carbamazepine or lamotrigine
second line for focal seizures are
sodium valproate or levetiracetam
first line absence seizures treatment
sodium valproate or ethosuximide
atonic seizures a characterised by
They are characterised by brief lapses in muscle tone.
atonic seizure first line
sodium valproate
myoclonic seizure refers too
sudden brief muscle contractions, like a sudden “jump”.
myoclonic seizure first line is
sodium valproate
infantile spasms “west syndrome” prognosis
1/ die by 25, 1/3rd seizure free
infantile spasms treatment
Prednisolone
Vigabatrin
EEG as an Ix for seizure occurs usually
after second presentation unless atypical
MRI for epilepsy should be considered when
The first seizure is in children under 2 years
Focal seizures
There is no response to first line anti-epileptic medications
additional investigations to consider for epilepsy
ECG, blood electrolytes, blood glucose, blood cultures, urine cultures and lumbar punctures
sodium valproate mechanism
by increasing the activity of GABA,
SE of sodium valproate
Teratogenic, so patients need careful advice about contraception
Liver damage and hepatitis
Hair loss
Tremor
SE of carbamazepine
Agranulocytosis
Aplastic anaemia
Induces the P450 system so there are many drug interactions
SE of lamotrigine
Stevens-Johnson syndrome or DRESS syndrome. These are life threatening skin rashes.
Leukopenia
status epilepticus is defined as
lasting more than 5 minutes or more than 3 seizures in one hour.
status epileptics management
Secure the airway
Give high-concentration oxygen
Assess cardiac and respiratory function
Check blood glucose levels
Gain intravenous access (insert a cannula)
IV lorazepam, repeated after 10 minutes if the seizure continues
Cyanotic breath holding spells occur
After letting out a long cry they stop breathing, become cyanotic and lose consciousness. Within a minute they regain consciousness and start breathing.
reflexic anoxic seizure is when
the child is startled. The vagus nerve sends strong signals to the heart that causes it to stop beating. The child will suddenly go pale, lose consciousness and may start to have some seizure-like muscle twitching. Within 30 seconds the heart restarts and the child becomes conscious again.
features of a migraine that are different to a tension type headache
Unilateral
More severe
Throbbing in nature
Take longer to resolve
migraines are associated with
Visual aura
Photophobia and phonophobia
Nausea and vomiting
Abdominal pain
managment of migraines in children require
Rest, fluids and low stimulus environment Paracetamol Ibuprofen Sumatriptan Antiemetics, such as domperidone
migraine prophylaxis includes
propranolol, pizotifen, topiramate
when an adult patient presents with a migraine ask about what?
recurrent central abdominal pain as a child. They may have a history of abdominal migraine that started before the headaches.
spastic hypertonia cerebral palsy refers too
(increased tone) and reduced function resulting from damage to upper motor neurones
dyskinetic cerebral palsy refers too
problems controlling muscle tone, with hypertonia and hypotonia, causing athetoid movements and oro-motor problems. This is the result of damage to the basal ganglia.
ataxic cerebral palsy refers too
problems with coordinated movement resulting from damage to the cerebellum
hemiplegic gait indicates
indicates an upper motor neurone lesion
ataxic gait indicates
cerebellar lesion
high stepping gait indicates
indicates foot drop or a lower motor neurone lesion
waddling gait indicates
indicates pelvic muscle weakness due to myopathy
upper motor neurone signs
muscle bulk preserved, hypertonia, slightly reduced poer and brisk reflexes
lower motor neurone signs
reduced muscle bulk, fasiculations, hypotonia, reduced power and reduced reflexes
people with cerebral palsy often have what signs
upper motor neurone signs
paediatrician my use what drugs for those with cerebral palsy
muscle relaxants, anti-epileptics and glycopyrronium bromide for excessive drooling
misalignment of the eyes is referred to as
strabismus
strabismus causes
double vision
concomitant squints are due to
differences in the control of the extra ocular muscles.
Amblyopia refers too
the affected eye becomes passive and has reduced function compared to the other dominant eye
Hirschberg’s test demonstrates
Deviation from the centre of a pen torch reflecting off the cornea will indicate a squint.
Tx for squints in kids are
occlusive patch or atropine drops in the good eye
CSF is created in each ventricle by
choroid plexuses
CSF is absorbed by what to get into the venous sytem
arachnoid granulations.
Arnold-Chiari malformation is where
cerebellum herniates downwards through the foramen magnum, blocking the outflow of CSF
signs of hydrocephalus in kids are
increasing occipito-frontal circumference, Bulging anterior fontanelle
Poor feeding and vomiting
Poor tone
Sleepiness
mainstay treatment for hydrocephalus is
Ventriculoperitoneal Shunt
craniosynostosis is the process of
the skull sutures close prematurely leading to increasing intracranial pressure
plagiocephaly means
flattening of one area of the baby’s head
brachycephaly refers too
refers to flattening at the back of the head
what should you look for and what should you exclude when managing Plagiocephaly
exclude craniosynotosis, and assess for congenital muscular torticollis
If there is a 5 year old boy presenting with vague symptoms of muscle weakness and the description is that you notice them using their hands on their legs to help them stand up. what is the condition and underlying mechanism?
Duchenne’s muscular dystrophy and x linked recessive
Gower’s sign is
To stand up, they get onto their hands and knees, then push their hips up and backwards like the “downward dog” yoga pose. They then shift their weight backwards and transfer their hands to their knees. Whilst keeping their legs mostly straight they walk their hands up their legs to get their upper body erect.
duchennes muscular dystrophy is caused by a defect in the what gene?
dystrophin
what has been used to slow progression of duchennes muscular dystrophy
oral steroids and creatine supplementals
features of myotonic dystrophy
Progressive muscle weakness
Prolonged muscle contractions
Cataracts
Cardiac arrhythmias
Emery-Dreifuss muscular dystrophy usually presents in childhood with
contractures, most commonly in the elbows and ankles.
classic initial symptoms of Facioscapulohumeral Muscular Dystrophy
A classic initial symptom is sleeping with their eyes slightly open and weakness in pursing their lips
