paeds Flashcards
reassuring features of innocent murmurs
short
soft
systolic
situation dependent
symptomless
what murmur do you get with patent ductus arteriosus
continuous crescendo-decrescendo “machinery” murmur, heard loudest below the clavicle. There is a normal first heart sound (S1), but the second heart sound (S2) may be difficult to hear over the murmur.
types of pediatric pan systolic murmurs
mitral regurgitation
tricuspid regurgitation
VSD
types of pediatric ejection systolic murmurs
aortic stenosis
pulmonary stenosis
HOCM
types of cyantic heart disease
ASD
VSD
PDA
Transposition of great arteries (always cyanotic)
murmur in ASD
mid-systolic, crescendo-decrescendo murmur loudest at the upper left sternal border. There is a fixed split second heart sound.
murmur in VSD
pan-systolic murmur more prominently heard at the left lower sternal border in the third and fourth intercostal spaces. There may be a systolic thrill on palpation.
signs of respiratory distress
raised RR
Use of accessory muscles of breathing, such as the sternocleidomastoid, abdominal and intercostal muscles
Intercostal and subcostal recessions
Nasal flaring
Head bobbing
Tracheal tugging
Cyanosis (due to low oxygen saturation)
Abnormal airway noises
treatment for PDA
indomethacin, ibuprofen or paracetamol
endovascular or open surgery if this fials
what defects are present in tetralogy of fallot
pulmonary valve stenosis
overriding aorta
VSD
R. ventricular hypertrophy
what defects are present in Ebsteins Anomaly
low ticuspid va;ve leading to large right atrium and small right ventricle
associated with ASD (R->L shunt = cyanosis)
associated with Wolf-Parkinson White
abnormal airway noises in children (and mechanism)
Wheezing is a whistling sound caused by narrowed airways, typically heard during expiration
Grunting is caused by exhaling with the glottis partially closed to increase positive end-expiratory pressure
Stridor is a high pitched inspiratory noise caused by obstruction of the upper airway, for example in croup
when to admit child with bronciolitis
Aged under 3 months or any pre-existing condition such as prematurity, Downs syndrome or cystic fibrosis
50 – 75% or less of their normal intake of milk
Clinical dehydration
Respiratory rate above 70
Oxygen saturations below 92%
Moderate to severe respiratory distress, such as deep recessions or head bobbing
Apnoeas
Parents not confident in their ability to manage at home or difficulty accessing medical help from home
life threatening acute asthma
peak flow <33% predicted
saturations <92%
exhaustions and poor respiratory effort
hypotension
silent chest
cyanosis
altered consciousness/ confusion
stepwise approach to mod to severe acute asthma
- Salbutamol inhalers via a spacer device: starting with 10 puffs every 2 hours
- Nebulisers with salbutamol / ipratropium bromide
- Oral prednisone (e.g. 1mg per kg of body weight once a day for 3 days)
- IV hydrocortisone
- IV magnesium sulphate
- IV salbutamol
- IV aminophylline
asthma management <5 yrs
- Start a short-acting beta-2 agonist inhaler (e.g. salbutamol) as required
- 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.
asthma management aged 5-12 yrs
- Start a short-acting beta-2 agonist inhaler (e.g. salbutamol) as required
- Add a regular low dose corticosteroid inhaler
- Add a long-acting beta-2 agonist inhaler (e.g. salmeterol). Continue salmeterol only if the patient has a good response.
- Titrate up the corticosteroid inhaler to a medium dose. Consider adding:
- Oral leukotriene receptor antagonist (e.g. montelukast)
- Oral theophylline - Increase the dose of the inhaled corticosteroid to a high dose.
- Referral to a specialist. They may require daily oral steroids.
inhaler technique
Remove the cap
Shake the inhaler (depending on the type)
Sit or stand up straight
Lift the chin slightly
Fully exhale
Make a tight seal around the inhaler between the lips
Take a steady breath in whilst pressing the canister
Continue breathing for 3 – 4 seconds after pressing the canister
Hold the breath for 10 seconds or as long as comfortably possible
Wait 30 seconds before giving a further dose
Rinse the mouth after using a steroid inhaler
what is laryngomalacia
Laryngomalacia is a condition affecting infants, where the part of the larynx above the vocal cords (the supraglottic larynx) is structured in a way that allows it to cause partial airway obstruction.
presents at 6 months with intermittent inspiratory stridor
management is conservative but sometime tracheostomy needed.
what is given to some babies to protect against RSV and which babies
monthly injection of monoclonal antibody against RSV (Palivizumab)
ex-premature, congenital heart disease, chronic lung disease of prematurity
management of croup
mild can have conservative at home management or oral dexamethasone (single dose 150mcg/kg) repeat at 12 hrs if needed.
mod/severe > admit +/- oxygen, nebulised budesonide, nebulsied adrenaline, I&V
what sign is seen on lateral neck XR in epiglottitis
thumbprint sign
management of epiglottitis
don’t distress the patient > leave them alone and don’t attempt examination
alert most senior paediatrician and anaethisist available
once airways secure give IV ceftriaxone and dexamethasone
antibiotic for whooping cough
macrolide eg azithromycin, erythromycin, clarithryomycin
vulnerable close contacts need macrolide prophylaxis!
prevention of chronic lung disease of prematurity
give corticosteroid (eg betamethasone) to mothers <36wks gestationw ith premature labour
once babies born give it:
- CPAP (rather than I&V)
- caffeine
cystic fibrosis key consequences (there’s 3)
- thick pancreatic and biliary secretions
- low volume thick airway secretions
- congenital bilateral absence of vas deferens
3 methods fo diagnosing cystic fibrosis
- newborn blood spot testing
- sweat test
- genetic testing fro CFTR gene (during pregnancy via amniocentesis or CVS)
treatment of Pseudomonas Aeruginosa in Cystic Fibrosis
long term nebulised antibiotics such as tobramycin
oral ciprofloxacin
separate clinic rooms to prevent spread to other children with CF
how often are people with CF monitored
6 months
how are people with CF monitored
sputum cultures
screening for diabetes, osteoporosis, vitamin D deficiency, liver failure
what is primary ciliary dyskinesia also known as
Kartagners syndrome
what is the kartagners triad
paranasal sinusitis
bronchiectasis
situs inversus
red flags for serious abdominal pain (paeds)
Persistent or bilious vomiting
Severe chronic diarrhoea
Fever
Rectal bleeding
Weight loss or faltering growth
Dysphagia (difficulty swallowing)
Nighttime pain
Abdominal tenderness
how does abdominal migraine present
central abdominal pain lasting more than 1 hour
can be associated with:
- N&V
- anorexia
- pallor
- headache
- photophobia
- aura
prevention of abdominal migraine
pizotifen (serotonin antagonist)
propanolol (non-selective beta-blocker)
cyroheptadine (antihistamine)
Flunarazine (CCB)
what is encopresis
Encopresis is the term for faecal incontinence. This is not considered pathological until 4 years of age. It is usually a sign of chronic constipation where the rectum becomes stretched and looses sensation. Large hard stools remain in the rectum and only loose stools are able to bypass the blockage and leak out, causing soiling.
red flags in conctipastion (paeds)
- not passing meconium
- neurological signs
- vomting
- ribbon stool
- abnormal anus
- abnormal lower back or buttocks
- failure to thrive
- acute severe abdominal pain and bloating
NICE recommendations for childhood constipation
Correct any reversible contributing factors, recommend a high fibre diet and good hydration
Start laxatives (movicol is first line)
Faecal impaction may require a disimpaction regimen with high doses of laxatives at first
Encourage and praise visiting the toilet. This could involve scheduling visits, a bowel diary and star charts.
Laxatives should be continued long term and slowly weaned off as the child develops a normal, regular bowel habit.
what percentage of children grow out of acid reflux at age of 1
90%
management of mild reflux
Small, frequent meals
Burping regularly to help milk settle
Not over-feeding
Keep the baby upright after feeding (i.e. not lying flat)
management of severe reflux
Gaviscon mixed with feeds
Thickened milk or formula (specific anti-reflux formulas are available)
Proton pump inhibitors (e.g., omeprazole) where other methods are inadequate
Sanfifer’s syndrome
rare conditions leading to brief episodes fo abnromal movement associated with reflux
1. torticollis
2. dystonia
usually resolves as reflux resolves but should refer to specialist to rule out serious causes,
features of pyloric stenosis
first few weeks of life = failure to thrive
- pale
- thin
- hungry
‘projectile vomiting’
firm, round mass in upper abdomen ‘feels like a large olive’
what do blood gases show in pyloric stenosis
hypochloric (low chloride) metabolic alkalosis
post gastroenteritis complications
Lactose intolerance
Irritable bowel syndrome
Reactive arthritis
Guillain–Barré syndrome
symptoms of coeliac disease
Failure to thrive in young children
Diarrhoea
Fatigue
Weight loss
Mouth ulcers
Anaemia secondary to iron, B12 or folate deficiency
Dermatitis herpetiformis is an itchy blistering skin rash that typically appears on the abdomen
diagnosis of coeliac disease
Check total immunoglobulin A levels to exclude IgA deficiency before checking for coeliac disease specific antibodies:
- Raised anti-TTG antibodies (first choice)
- Raised anti-endomysial antibodies
Endoscopy and intestinal biopsy show:
- “Crypt hypertrophy”
- “Villous atrophy”
crohns features (NESTS)
N- No blood or mucus
E - Entire GI Tract
S - ‘skip lesions’ on endoscopy
T - terminal ileum most affected and transmural inflammation
S - smoking is a risk factor
also : weight loss, structures and fistulas
Ulcerative colitis features (CLOSE UP)
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 - PSC
extra-intestinal manifestations of IBD
Finger clubbing
Erythema nodosum
Pyoderma gangrenosum
Episcleritis and iritis
Inflammatory arthritis
Primary sclerosing cholangitis (ulcerative colitis)
testing for IBD
Faecal calprotectin is released by the intestines when inflamed. It is a useful screening test and is more than 90% sensitive and specific for IBD in adults.
Endoscopy (OGD and colonoscopy) with biopsy is the gold standard investigation for diagnosis of IBD.
Imaging with ultrasound, CT and MRI can be used to look for complications such as fistulas, abscesses and strictures.
inducing remission of crohns
1st line > steroids (oral prednisolone or IV hydrocortisone)
2nd > azathioprine, mercaptopurine, methotrexate, infliximab, adalimumab
maintaining remission of crohns
First line:
Azathioprine
Mercaptopurine
Alternatives:
Methotrexate
Infliximab
Adalimumab
inducing remission of UC
Mild to moderate disease
First line: aminosalicylate (e.g. mesalazine oral or rectal)
Second line: corticosteroids (e.g. prednisolone)
Severe disease
First line: IV corticosteroids (e.g. hydrocortisone)
Second line: IV ciclosporin
maintaining remission UC
Aminosalicylate (e.g. mesalazine oral or rectal)
Azathioprine
Mercaptopurine
surgery for UC
remove the colon (panproctocolectomy)
- permanent ileostomy OR
- ileo-anal anastamosis (J-pouch)
what is biliary atresia
blie duct is narrowed or absent leasing to cholestasis. ie the excretion of conjugated bilirubin
when to suspect biliary atresia
persistent jaundice lasting more than 14 days in term babies and 21 days in premature babies
management of biliary atresia
“Kasai Portoenterostomy”
attaching small intestine to the opening of the liver. Often require a full liver transplant to fully resolve condition.
causes of intestinal obstruction
Meconium ileus
Hirschsprung’s disease
Oesophageal atresia
Duodenal atresia
Intussusception
Imperforate anus
Malrotation of the intestines with a volvulus
Strangulated hernia
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
The initial investigation of choice is an abdominal xray. This may show dilated loops of bowel proximal to the obstruction and collapsed loops of bowel distal to the obstruction. There will also be absence of air in the rectum.
management of intestinal obstruction
refer to paediatric surgical unit as emergency
nil by mouth
insert NG tube to drain stomach and stop vomiting
IV fluids to correct dehydration and electrolyte imbalances
what is Hirschsprung’s disease
Hirschsprung’s disease is a congenital condition where nerve cells of the myenteric plexus are absent in the distal bowel and rectum. The myenteric plexus, also known as Auerbach’s plexus, forms the enteric nervous system. It is the brain of the gut.
presentation of Hirschprungs
acute intestinal obstruction shortly after birth or more gradually developing symptoms:
Delay in passing meconium (more than 24 hours)
Chronic constipation since birth
Abdominal pain and distention
Vomiting
Poor weight gain and failure to thrive
what is Hirschsprung-associated enter-colitis
Hirschsprung-associated enterocolitis (HAEC) is inflammation and obstruction of the intestine occurring in around 20% of neonates with Hirschsprung’s disease. It typically presents within 2-4 weeks of birth with fever, abdominal distention, diarrhoea (often with blood) and features of sepsis. It is life threatening and can lead to toxic megacolon and perforation of the bowel. It requires urgent antibiotics, fluid resuscitation and decompression of the obstructed bowel.
management of hirschsprungs disease
abdo XR
rectal biospy
if unwell > fluid resus and management of intestinal obstruction
definitive management is surgical removal of aganglionic bowel.
what is intussusception
bowel ‘invaginates’ or ‘telescopes’ into itself. Leads to palpable mass in abdomen and obstruction. typically occurs in infants 6mnhts- 2 years. more common in boys
presentation of intususseption
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
management of intususseption
Diagnosis is made mainly by ultrasound scan or contrast enema.
Therapeutic enemas can be used to try to reduce the intussusception. Contrast, water or air are pumped into the colon to force the folded bowel out of the bowel and into the normal position.
Surgical reduction may be necessary if enemas do not work.
If the bowel becomes gangrenous (due to a disruption of the blood supply) or the bowel is perforated, then surgical resection is required.
location of pain in appendicitis
This typically starts as central abdominal pain, that moves down to the right iliac fossa (RIF) over time and eventually becomes localised in the RIF. On palpation of the abdomen there is tenderness in McBurney’s point. This is a localised area one third the distance from the anterior superior iliac spine (ASIS) to the umbilicus.
features of appendicitis
Loss of appetite (anorexia)
Nausea and vomiting
Rovsing’s sign (palpation of the left iliac fossa causes pain in the RIF)
Guarding on abdominal palpation
Rebound tenderness is increased pain when quickly releasing pressure on the right iliac fossa
Percussion tenderness is pain and tenderness when percussing the abdomen
Rebound tenderness and percussion tenderness suggest peritonitis, caused by a ruptured appendix.
diagnosis of appendicits
Diagnosis is based on the clinical presentation and raised inflammatory markers. Performing a CT scan can be useful in confirming the diagnosis, particularly where another diagnosis is more likely. An ultrasound scan is often used in female patients to exclude ovarian and gynaecological pathology.
When a patient has a clinical presentation suggestive of appendicitis but investigations are negative, the next step is to perform a diagnostic laparoscopy to visualise the appendix directly. The surgeon can then proceed to an appendicectomy during the same procedure if indicated.
complications of appendicectomy
Bleeding, infection, pain and scars
Damage to bowel, bladder or other organs
Removal of a normal appendix
Anaesthetic risks
Venous thromboembolism (deep vein thrombosis or pulmonary embolism)
how does T1DM present
25-50% present in DKA
remaining present with triad of hyperglycaemia
- polyuria
- polydipsia
- weight loss
less common
- secondary enuresis
- recurrent infections
tests needed when new diagnosis of T1DM to exclude associated pathology and check overall health
Baseline bloods including FBC, renal profile (U&E) and a formal laboratory glucose
Blood cultures should be performed in patients with suspected infection (i.e. with fever)
HbA1c can be used to get a picture of the blood sugar over the previous 3 months. This gives an idea of how long they have been diabetic prior to presenting.
Thyroid function tests and thyroid peroxidase antibodies (TPO) to test for associated autoimmune thyroid disease
Tissue transglutaminase (anti-TTG) antibodies for associated coeliac disease
Insulin antibodies, anti-GAD antibodies and islet cell antibodies to test for antibodies associated with destruction of the pancreas and the development of type 1 diabetes
example of basal-bolus regime
“lantus” a long-acting insulin in the evening
“Actrapid” a short acting insulin 3x day before meals and according to number of carbohydrates consumed during snacking
treatment of severe hypoglycaemia
if cannula in situ IV dextrose
- 10% dextrose 2mg/ kg bolus followed by 5mg/kg/hr infusion
or IM glucagon
what does FreeStyle Libre monitor
glucose level of the interstitial fluid in the subcutaneous tissue. There is a 5 minute lag behind blood glucose. The sensor records the glucose readings at short intervals so you get a really good impression of what the glucose levels are doing over time
what are the main features of DKA and reasons
ketoacidosis
- due to liver converting fatty acids into ketones due to lack of insulin and so no glucose available for cells.
dehydration
- due to osmotic diuresis
potassium imbalance
- insulin normally drives K into cells so without it there’s high K in the blood. However kidneys balance blood potassium by excreting more K in the urine leading to low total body K. Therefore, when Insulin treatment started and K is driven into the cells this can lead to low blood K.
why do you get cerebral oedema in DKA
In DKA dehydration and hyperglycaemia lead to water moving intra to extra cellular spaces in the brain.
When this is corrected with IV fluids causes a rapid shift of fluid back into the cells leads to swelling of the brain.
leads to cell destruction and death
diagnosis of DKA
hyperglycaemia (>11mmol/l in blood)
Ketosis (>3mmol/l in blood)
acidosis (pH <7.3)
2 pillars of DKA management
- Correct dehydration evenly over 48 hours. This will correct the dehydration and dilute the hyperglycaemia and the ketones. Correcting it faster increases the risk of cerebral oedema.
- Give a fixed rate insulin infusion. This allows cells to start using glucose again. This in turn switches off the production of ketones.
addisons disease cause
adrenal glands have been damaged, resulting in reduced secretion of cortisol and aldosterone. This is also called primary adrenal insufficiency. The most common cause is autoimmune.
secondary adrenal insufficiency cause
inadequate ACTH stimulating the adrenal glands, resulting in low levels of cortisol being released. This is the result of loss or damage to the pituitary gland. This can be due to congenital underdevelopment (hypoplasia) of the pituitary gland, surgery, infection, loss of blood flow or radiotherapy.
tertiary adrenal insufficiency cause
inadequate CRH release by the hypothalamus. This is usually the result of patients being on long term oral steroids (for more than 3 weeks) causing suppression of the hypothalamus. When the exogenous steroids are suddenly withdrawn the hypothalamus does not “wake up” fast enough and endogenous steroids are not adequately produced
electrolyte imbalances in adrenal insuffiency
hyponatraemia
hyperkalaemia
hypoglycaemia
primary vs secondary adrenal insufficeincy test results
Primary:
Low cortisol
High ACTH
Low aldosterone
High renin
secondary:
Low cortisol
Low ACTH
Normal aldosterone
Normal renin
short synacthen test
The short synacthen test can be used to confirm adrenal insufficiency. It is ideally performed in the morning when the adrenal glands are the most “fresh”. The test involves giving synacthen, which is synthetic ACTH. The blood cortisol is measured at baseline, 30 and 60 minutes after administration. The synthetic ACTH will stimulate healthy adrenal glands to produce cortisol. The cortisol level should at least double in response to synacthen. A failure of cortisol to rise (less than double the baseline) indicates primary adrenal insufficiency (Addison’s disease).
management of adrenal insuffiency
hydrocortisone
fludrocortisone
steroid card and emergency ID tag
dose increases during acute illness
close monitoring by specialist
sick day rules for adrenal insuffiency
The dose of steroid needs to be increased and given more regularly until the illness has completely resolved.
Blood sugar needs to be monitored closely and they need to eat foods containing carbohydrates regularly.
With diarrhoea or vomiting, they need an IM injection of steroid at home and likely required admission for IV steroids.
presentation of adrenal crisis
Reduced consciousness
Hypotension
Hypoglycaemia, hyponatraemia and hyperkalaemia
management of adrenal crisis
Intensive monitoring if they are acutely unwell
Parenteral steroids (i.e. IV hydrocortisone)
IV fluid resuscitation
Correct hypoglycaemia
Careful monitoring of electrolytes and fluid balance
What is congenital adrenal hyperplasia
Congenital adrenal hyperplasia is caused by a congenital deficiency of the 21-hydroxylase enzyme. This causes underproduction of cortisol and aldosterone and overproduction of androgens from birth. It is a genetic condition that is inherited in an autosomal recessive pattern. In a small number of cases it is caused by a deficiency of 11-beta-hydroxylase rather than 21-hydroxylase.
how does aldosterone work
Aldosterone is the main mineralocorticoid hormone. It is released by the adrenal gland in response to renin. Aldosterone acts on the kidneys 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.
pathophysiology of CAH
21-hydroxylase is the enzyme responsible for converting progesterone into aldosterone and cortisol. Progesterone is also used to create testosterone, but this conversion does not rely on the 21-hydroxylase enzyme. In CAH, there is a defect in the 21-hydroxylase enzyme. Therefore, because there is extra progesterone floating about that cannot be converted to aldosterone or cortisol, it gets converted to testosterone instead. The result is a patient with low aldosterone, low cortisol and abnormally high testosterone.
presentation of severe CAH
Female patients with CAH usually presents at birth with virilised genitalia, known as “ambiguous genitalia” and an enlarged clitoris due to the high testosterone levels.
Patients with more severe CAH present shortly after birth with hyponatraemia, hyperkalaemia and hypoglycaemia.
This leads to signs and symptoms:
Poor feeding
Vomiting
Dehydration
Arrhythmias
presentation of mild CAH
Patients who are less severely affected present during childhood or after puberty. Their symptoms tend to be related to high androgen levels.
Female patients:
Tall for their age
Facial hair
Absent periods
Deep voice
Early puberty
Male patients:
Tall for their age
Deep voice
Large penis
Small testicles
Early puberty
management of CAH
Cortisol replacement, usually with hydrocortisone, similar to treatment for adrenal insufficiency
Aldosterone replacement, usually with fludrocortisone
Female patients with “virilised” genitals may require corrective surgery
what does GH stimulate the release of
Insulin-like growth factor 1 (IGF-1)
presentation of GF deficiency
Growth hormone deficiency may present at birth or in neonates with:
Micropenis (in males)
Hypoglycaemia
Severe jaundice
Older infants and children can present with:
Poor growth, usually stopping or severely slowing from age 2-3
Short stature
Slow development of movement and strength
Delayed puberty
investigation for GH deficiency
Growth hormone stimulation tests involve measuring the response to medications that normally stimulate the release of growth hormone. Examples of these medications include glucagon, insulin, arginine and clonidine. Growth hormone levels are monitored regularly for 2-4 hours after administering the medication to assess the hormonal response. In growth hormone deficiency there will be a poor response to stimulation.
treatment of GH deficiency
Daily subcutaneous injections of growth hormone (somatropin)
Treatment of other associated hormone deficiencies
Close monitoring of height and development
presentation of congenital hypothyroidism
Congenital hypothyroidism is screened for on the newborn blood spot screening test. Where it is not picked up a birth, patients can present with:
Prolonged neonatal jaundice
Poor feeding
Constipation
Increased sleeping
Reduced activity
Slow growth and development
what is the prevalence of congenital hypothyroidism
1 in 3000
management of children under 3 with UTI
All children under 3 months with a fever should start immediate IV antibiotics (e.g. ceftriaxone) and have a full septic screen, including blood cultures, bloods and lactate. A lumbar puncture should also be considered.
What children should get USS fro UTIs
All children under 6 months with their first UTI should have an abdominal ultrasound within 6 weeks, or during the illness if there are recurrent UTIs or atypical bacteria
Children with recurrent UTIs should have an abdominal ultrasound within 6 weeks
Children with atypical UTIs should have an abdominal ultrasound during the illness
management of Vesico-ureteric reflux (VUR)
diagnose using micturating cystourethrogram (MCUG)
mx:
- avoid constipation
- avoid excessively full bladder
- prophylactic antibiotics
- surgical input form paeds urology
what is vulvovaginitis
Vulvovaginitis refers to inflammation and irritation of the vulva and vagina. It is a common condition often affecting girls between the ages of 3 and 10 years.
can cause leukocytes but no nitries on dipstick and often misdiagnosed as UTI.
Mx is conservative
If severe experienced paediatrician may recommend oestrogen cream
triad of nephrotic syndrome
Low serum albumin
High urine protein content (>3+ protein on urine dipstick)
Oedema
mx of minimal change disease
high dose prednisolone for 4 weeks then gradually weaned over 8 weeks.
- 80% respond and recover although 80% of these children relapse
- steroid dependence if unable to wean due to relapse
- steroid resistant if not affective (ACEi and immunosuppressants may be used)
post-streptococcus glomerulonephritis
Post-streptococcal glomerulonephritis occurs 1 – 3 weeks after a β-haemolytic streptococcus infection, such as tonsillitis caused by Streptococcus pyogenes. 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.
Mx supportive 80% make full recovery
IgA nephropathy / bergers
IgA nephropathy is also known as Berger’s disease. This condition is related to Henoch-Schonlein Purpura, which is an IgA vasculitis. IgA deposits in the nephrons of the kidney causes inflammation (nephritis). When a renal biopsy is taken the histology will show “IgA deposits and glomerular mesangial proliferation”.
It usually presents in teenagers or young adults.
Management involves supportive treatment of the renal failure and immunosuppressant medications such as steroids and cyclophosphamide to slow the progression of the disease.
triad in Haemolytic uremic syndrome
Microangiopathic haemolytic anaemia
Acute kidney injury
Thrombocytopenia (low platelets)
presentation of HUS
E. coli O157 and Shigella cause gastroenteritis. Diarrhoea is the first symptom, which turns bloody within 3 days. Around a week after the onset of diarrhoea, the features of HUS develop:
Fever
Abdominal pain
Lethargy
Pallor
Reduced urine output (oliguria)
Haematuria
Hypertension
Bruising
Jaundice (due to haemolysis)
Confusion
management of HUS
Stool culture is used to establish the causative organism.
HUS is a medical emergency and requires hospital admission and supportive management with treatment of:
Hypovolaemia (e.g., IV fluids)
Hypertension
Severe anaemia (e.g., blood transfusions)
Severe renal failure (e.g., haemodialysis)
It is self-limiting, and most patients fully recover with good supportive care.
at what age to children normally control bladder
2 years old in daytime
5 years old at nighttime
causes of secondary nocturnal enuresis
Urinary tract infection
Constipation
Type 1 diabetes
New psychosocial problems (e.g. stress in family or school life)
Maltreatment
definition of secondary nocturnal enuresis
Secondary nocturnal enuresis is where a child begins wetting the bed when they have previously been dry for at least 6 months
underlying pathology of PCKD in neonates
Cystic enlargement of the renal collecting ducts
Oligohydramnios, pulmonary hypoplasia and Potter syndrome
Congenital liver fibrosis
what is potter syndrome
underdeveloped ear cartilage, low set ears, a flat nasal bridge and abnormalities of the skeleton
what is multicystic dysplatic kidney
one kidney made up of many cysts while other kidney is normal (if both this way = death)
abnormal kidney usually atrophies before aged 5 and child lives normally
inc. risk of UTI, hypertension and CKD
no treatment
prognosis of PCKD
1/3 die in neonatal period
1/3 survive until adulthood
presentation of Wilms Tumour
Consider a Wilms tumour in a child under the age of 5 years presenting with a mass in the abdomen. The parents may have noticed the mass, or they may present with signs and symptoms of:
Abdominal pain
Haematuria
Lethargy
Fever
Hypertension
Weight loss
diagnosis of Wilms tumour
The initial investigation is an ultrasound of the abdomen to visualise the kidneys. A CT or MRI scan can be used to stage the tumour. Biopsy to identify the histology is required to make a definitive diagnosis.
Mx of Wilms tumour
surgical excisim and nephrostomy
+- adjuvatn chemotherapy or radiotherapy
what is a posterior urethral valve
A posterior urethral valve is where there is tissue at the proximal end of the urethra (closest to the bladder) that causes obstruction of urine output. It occurs in newborn boys. The obstruction to the outflow of urine creates a back pressure into the bladder, ureters and up to the kidneys, causing hydronephrosis. A restriction in the outflow of urine prevents the bladder from fully emptying, leading to a reservoir of urine that increases the risk of urinary tract infections.
invx for posterior urethral valve
Severe cases may be picked up on antenatal scans as oligohydramnios and hydronephrosis.
To investigate cases presenting after birth, for example young boys presenting with urinary tract infections:
Abdominal ultrasound may show an enlarged, thickened bladder and bilateral hydronephrosis
Micturating cystourethrogram (MCUG) shows the location of the extra urethral tissue and reflux of urine back into the bladder
Cystoscopy involves a camera inserted into the urethra to get a detailed view of the extra tissue. Cystoscopy can be used to ablate or remove the extra tissue.
how many boys are born with undescended testes
5%
RF for undescended testes
Family history of undescended testes
Low birth weight
Small for gestational age
Prematurity
Maternal smoking during pregnancy
management for undescended testes
Watching and waiting is appropriate in newborns. In most cases the testes will descend in the first 3 – 6 months. If they have not descended by 6 months they should be seen by a paediatric urologist. Orchidopexy (surgical correction of undescended testes) should be carried out between 6 and 12 months of age.
what is hpospadias
Hypospadias is a condition affecting males, where the urethral meatus (the opening of the urethra) is abnormally displaced to the ventral side (underside) of the penis, towards the scrotum. This might be further towards the bottom of the glans (in 90% of cases), halfway down the shaft or even at the base of the shaft
what is epispadias
Epispadias is where the meatus is displaced to the dorsal side (top side) of the penis
management of hypospadias
Hypospadias requires referral to a paediatric specialist urologist for ongoing management. It is important to warn parents not to circumcise the infant until a urologist indicates this is ok.
Mild cases may not require any treatment
Surgery is usually performed after 3 – 4 months of age
Surgery aims to correct the position of the meatus and straighten the penis
management of hydroceles in neonates
Ultrasound is a useful investigation for confirming the diagnosis and excluding other causes.
Simple hydroceles will usually resolve within 2 years without having any lasting negative effects. Parents can be reassured and followed up routinely. They may require surgery if they are associated with other problems, such as a hernia.
Communicating hydroceles can be treated with a surgical operation to remove or ligate the connection between the peritoneal cavity and the hydrocele (the processus vaginalis
principles of neonate resuscitation
- warm the baby
- calculate APGAR
- stimulate breathing
- inflation breaths
- chest compressions
(if HR <6obpm despite inflation breaths. 3:1 ratio with ventilation breaths) - escalation
(IV drugs and intubation, babies near or at term may benefit from therapeutic hypothermia to prevent hypoxic-ischaemic encephalopathy)
why do we use delayed cord clamping
to get blood from placenta into fetus (known as umbilical transfusion).
In healthy babies this leads to improved haemoglobin, iron stores and BP. Reduction of intraventricular haemorrhage and necrotising enter-colitis.
uncompromised neonates should have a delay of 1 minute.
normal care immediately after birth
- 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
what is screened for in blood spot screening (9 conditions)
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
when is blood spot screening test carried out and when do results come back
taken on day 5 (day 8 latest)
results take 6-8wks
when are newborn examinations carried out
The examination is performed within the first 72 hours after birth. It is repeated at 6 – 8 weeks by their GP.
pre-ductal and post-ductal reading in neonates
measuring O2 sats before and after ductus arteriosus
- pre-ductal > right wrist
- post-ductal > either foot
normal sats are above 96%. There should be no greater difference than 2%. This could suggest patent ductus arteriosus
Talipes (positional vs structural)
positional is when muscles are slightly tight around the ankle but bones are unaffected. refer to physiotherapist.
structural is when the bones of the foot and ankle are affected. refer to ortho.
how to do galeazzi, barlows and ortolani manoeuvres
Galeazzi >
putting babys legs with feet flat and knees bent to look at differences in height between both knees.
Barlow maneuver >
The examiner gently applies pressure to the infant’s thigh near the hip to dislocate the femoral head from the acetabulum. If the hip is dislocatable, a clunk may be felt.
Ortolani maneuver >
The examiner abducts the hip and applies gentle pressure to the proximal thigh from behind to relocate a dislocated femoral head back into the acetabulum.
erbs palsy
injury to C5/6 nerves associated with forceps delivery, shoulder dystocia, large birth weight.
weakness of shoulder abduction and external rotation, arm flexion and finger extension = ‘waiters tip” appearance.
Usually returns to normal within few months.
caput succedaneum vs cephalom haematome
caput succedaneum
- fluid collection on scalp outside the periosteum.
- crosses suture lines.
- causes very mild discolouration of skin.
- resolves in a few days.
cephalohaematoma
- blood between skull and perosteum
- does not cross suture lines.
- can cause discoloration os skin.
- resolves within few months.
- risk of anaemia and jaundice if blood breaks down
fractures clavicle
assoc. with shoulder dystocia, instrumental delivery, large birth weight.
feat:
- noticeable lack of movement
- asymmetry of shoulders
- pain and distress on movement of arm
confirm via USS or XR
Sometimes needs immobilisations but usually heals well
organisms causing neonatal sepsis
Group B streptococcus (GBS)
Escherichia coli (e. coli)
Listeria
Klebsiella
Staphylococcus aureu
RF for neonatal sepsis
Vaginal GBS colonisation
GBS sepsis in a previous baby
Maternal sepsis, chorioamnionitis or fever > 38ºC
Prematurity (less than 37 weeks)
Early (premature) rupture of membrane
Prolonged rupture of membranes (PROM)
clinical 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
NICE guidelines for treatment of neonatal sepsis
- If there is one risk factor or clinical feature, monitor the observations and clinical condition for at least 12 hours
- If there are two or more risk factors or clinical feature of neonatal sepsis start antibiotics
- Antibiotics should be started if there is a single red flag
- Antibiotics should be given within 1 hour of making the decision to start them
- Blood cultures should be taken before antibiotics are given
- Check a baseline FBC and CRP
- Perform a lumbar puncture if infection is strongly suspected or there are features of meningitis (e.g. seizures)
red flags in 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
Antibiotic in neonatal sepsis
1 > Benzylpenicillin and gentamycin
If low risk Cefotaxime alternative
ongoing management of neonatal sepsis
Check the CRP again at 24 hours and check the blood culture results at 36 hours:
Consider stopping the antibiotics if the baby is clinically well, the blood cultures are negative 36 hours after taking them and both CRP results are less than 10.
Check the CRP again at 5 days if they are still on treatment:
Consider stopping antibiotics if the baby is clinically well, the lumbar puncture and blood cultures are negative and the CRP has returned to normal at 5 days.
Consider performing a lumbar puncture if any of the CRP results are more than 10.
signs of hypoxic ischaemic encephalopathy (HIE)
events that could lead to hypoxia during the perinatal or intrapartum period, acidosis (pH < 7) on the umbilical artery blood gas, poor Apgar scores, features of mild, moderate or severe HIE (see below) or evidence of multi organ failure.
causes of HIE
maternal shock
intrapartum haemorrhage
prolapsed cord
nuchal cord
when is neonatal jaundice pathological
within first 24hrs of life
More than 14 days in full term babies
More than 21 days in premature babies
investigations for prolonged neonatal jaundice
Full blood count and blood film for polycythaemia or anaemia
Conjugated bilirubin: elevated levels indicate a hepatobiliary cause
Blood type testing of mother and baby for ABO or rhesus incompatibility
Direct Coombs Test (direct antiglobulin test) for haemolysis
Thyroid function, particularly for hypothyroid
Blood and urine cultures if infection is suspected. Suspected sepsis needs treatment with antibiotics.
Glucose-6-phosphate-dehydrogenase (G6PD) levels for G6PD deficiency
management of neonatal jaundice
phototherapy (blue light shone on baby which converts unconjugated bilirubin into isomers which are excreted in the urine)
WHO classifications of prematurity
Under 28 weeks: extreme preterm
28 – 32 weeks: very preterm
32 – 37 weeks: moderate to late preterm
management of confirmed preterm labour
Tocolysis with nifedipine: nifedipine is a calcium channel blocker that suppresses labour
Maternal corticosteroids: can be offered before 35 weeks gestation to reduce neonatal morbidity and mortality
IV Magnesium sulphate: can be offered before 34 weeks gestation and helps protect the baby’s brain
Delayed cord clamping or cord milking: can increase the circulating blood volume and haemoglobin in the baby
management of neonatal apnoeas
Neonatal units attach apnoea monitors to premature babies. These make a sound when an apnoea is occurring. Tactile stimulation is used to prompt the baby to restart breathing. Intravenous caffeine can be used to prevent apnoea and bradycardia in babies with recurrent episodes.
pathophysiology of retinopathy of prematurity
Retinal blood vessel development starts at around 16 weeks and is complete by 37 – 40 weeks gestation. The blood vessels grow from the middle of the retina to the outer area. This vessel formation is stimulated by hypoxia, which is a normal condition in the retina during pregnancy. When the retina is exposed to higher oxygen concentrations in a preterm baby, particularly with supplementary oxygen during medical care, the stimulant for normal blood vessel development is removed.
When the hypoxic environment recurs, the retina responds by producing excessive blood vessels (neovascularisation), as well as scar tissue. These abnormal blood vessels may regress and leave the retina without a blood supply. The scar tissue may cause retinal detachment.
screening for neonatal retinopathy
Babies born before 32 weeks or under 1.5kg should be screened for ROP. Screening is performed by an ophthalmologist. Screening starts at:
30 – 31 weeks gestational age in babies born before 27 weeks
4 – 5 weeks of age in babies born after 27 weeks
Screening should happen at least every 2 weeks and can cease once the retinal vessels enter zone 3, usually at around 36 weeks gestation.
pathophysiology of respiratory distress syndrome
Inadequate surfactant leads to high surface tension within alveoli. This leads to atelectasis (lung collapse), as it is more difficult for the alveoli and the lungs to expand. This leads to inadequate gaseous exchange, resulting in hypoxia, hypercapnia (high CO2) and respiratory distress.
Management of respiratory distress
antenatal steroids given in preterm labour.
once born:
- intubation and ventilation if severe
- endotracheal surfactant
- CPAP
- supplementary oxygen (maintain sats of 91-95%)
RFs for necrotising entercolitis
- very low birth weight or very premature
- formula feeds
- respiratory distress and assisted ventilation
- sepsis
- patent ductus arteriosus and other congenital heart disease
management of NEC
- nil by mouth with IV fluids
- Total parenteral nutrition
- antibiotics
- NG tube
- surgical referral
what substances can cause Neonatal abstinence syndrome and timelines
3-72hrs
- opiates
- diazepam
- SSRI
- alcohol
24 hrs - 21 days
- methadone and other benzodiazepines
management of neonatal abstinence syndrome
Mothers that are known to use substances should have an alert on their notes so that when they give birth the neonate can have extra monitoring and management of NAS.
Babies are kept in hospital with monitoring on a NAS chart for at least 3 days (48 hours for SSRI antidepressants) to monitor for withdrawal symptoms. A urine sample can be collected from the neonate to test for substances. The neonate should be supported in a quiet and dim environment with gentle handling and comforting.
medical options for severe neonatal abstinence
- oral morphine sulphate
- oral phenobarbitone
triad of congenital toxoplasmosis
Intracranial calcification
Hydrocephalus
Chorioretinitis
signs of fetal alcohol syndrome
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
RF for sudden infant death syndrome
Prematurity
Low birth weight
Smoking during pregnancy
Male baby (only slightly increased risk)
how to minimise risk of sudden infant death syndrome
Put the baby on their back when not directly supervised
Keep their head uncovered
Place their feet at the foot of the bed to prevent them sliding down and under the blanket
Keep the cot clear of lots of toys and blankets
Maintain a comfortable room temperature (16 – 20 ºC)
Avoid smoking. Avoid handling the baby after smoking (smoke stays on clothes).
Avoid co-sleeping, particularly on a sofa or chair
If co-sleeping avoid alcohol, drugs, smoking, sleeping tablets or deep sleepers
what does WHO recommend for breatfeeding
exclusive breast feeding for first 6 months of life
initial weight loss in babies
It is acceptable for breast fed babies to loose up to 10% and formula fed babies to loose up to 5% of their body weight by day 5 of life. They should be back at their birth weight by day 10. If they loose more weight than this or do not regain their birth weight by two weeks, they need admission to hospital and assessment for possible causes.
at what age does weening start
~6 months
by 1 year of age should resemble diet of older child
what are the 3 phases of growth
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
how is faltering growth defined by NICE
A fall in weight across:
- One or more centile spaces if their birthweight was below the 9th centile
- Two or more centile spaces if their birthweight was between the 9th and 91st centile
- Three or more centile spaces if their birthweight was above the 91st centile
how is mid parental height calculated
(height of mum + height of dad) / 2.
predicted height of boys and girls
Boys: (mother height + fathers height + 14cm) / 2
Girls: (mothers height + father height – 14cm) / 2
constitutional delay in growth and puberty
variant of normal. Short as a child but normal stature as an adult.
A key feature of CDGP is delayed bone age. It is possible to estimate the age of a child using xray images of their wrist and hand by assessing the size and shape of the bones and the growth plates
normal ages to begin puberty boys and girls
Puberty starts age 8 – 14 in girls and 9 – 15 in boys. It takes about 4 years from start to finish.
threshold for investigation is no evidence of pubertal changes in girls aged 13 or boys aged 14
Kallman Syndrome
Kallman syndrome is a genetic condition causing hypogonadotrophic hypogonadism, resulting in failure to start puberty. It is associated with a reduced or absent sense of smell (anosmia).
what is included in combined test for Down Syndrome
11-14 weeks gestation by combining USS and maternal blood tests.
USS
- nuchal translucency >6mm
Maternal Blood Tests
- high Beta-human chorionic gonadotrophin (beta-HCG)
low Pregnancy- associated plasma protein-A (PAPPA)
whats included in triple and quadruple tests fro Down Syndrome
Beta-HCG. A higher result indicates greater risk.
Alpha-fetoprotein (AFP). A lower result indicates a greater risk.
Serum oestriol (female sex hormone). A lower result indicates a greater risk.
+ Inhibin-A (high + greater risk)
follow up investigations for down syndrome
- Regular thyroid checks (2 yearly)
- Echocardiogram to diagnose cardiac defects
- Regular audiometry for hearing impairment
- Regular eye checks
Klinefelters Syndrome
males with 47 XXY
feat:
- Taller height
- Wider hips
- Gynaecomastia
- Weaker muscles
- Small testicles
- Reduced libido
- Shyness
- Infertility
- Subtle learning difficulties (particularly affecting speech and language)
Turners Syndrome
females with 45 X0
Feat:
- 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
Marfan Syndrome
Autosomal dominant condition affecting FIbrillin (connective tissue)
feat:
Tall stature
Long neck
Long limbs
Long fingers (arachnodactyly)
High arch palate
Hypermobility
Pectus carinatum or pectus excavatum
Downward sloping palpable fissures
Noonans Syndrome
variety of genes inherited in autosomal dominant way.
Feat:
- 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
Fragile X Syndrome
X-linked (unclear whether recessive or dominant). Involving the fragile X mental retardation 1 gene (FMR1)
feat:
Intellectual disability
Long, narrow face
Large ears
Large testicles after puberty
Hypermobile joints (particularly in the hands)
Attention deficit hyperactivity disorder (ADHD)
Autism
Seizures
Prader-WIlli Syndrome
loss of functional genes on proximal arm of chromosone 15 inherited from the father.
fear:
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
Angelman Syndrome
loss of function of the UBE3A gene inherited from the mother.
feat:
- 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
deletion of material on one copy of chromosome 7, usually random.
Feat:
- 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
focal seizures
Focal seizures start in the temporal lobes. They affect hearing, speech, memory and emotions. There are various ways that focal seizures can present:
- Hallucinations
- Memory flashbacks
- Déjà vu
- Doing strange things on autopilot
1> carbamazepine or lamotrigine
2> sodium valproate or levetiracetam
absence seizures
Absence seizures typically happen in children. The patient becomes blank, stares into space and then abruptly returns to normal. During the episode they are unaware of their surroundings and won’t respond. These typically only lasts 10 to 20 seconds. Most patients (more than 90%) stop having absence seizures as they get older.
1> sodium valproate or ethosuximide
Atonic seizures
Atonic seizures are also known as drop attacks. They are characterised by brief lapses in muscle tone. These don’t usually last more than 3 minutes. They typically begin in childhood. They may be indicative of Lennox-Gastaut syndrome. Management is:
1> sodium valproate
2> lamotrigine
myoclonic seizures
Myoclonic seizures present as sudden brief muscle contractions, like a sudden “jump”. The patient usually remains awake during the episode. They occur in various forms of epilepsy but typically happen in children as part of juvenile myoclonic epilepsy. Management is:
1> sodium valproate
2> lamotrigine, levetiracetam or topiramate
Infantile spasms
This is also known as West syndrome. It is a rare (1 in 4000) disorder starting in infancy at around 6 months of age. It is characterised by clusters of full body spasms. There is a poor prognosis: 1/3 die by age 25, however 1/3 are seizure free.
1> Prednisolone or Vigabatrin
when to perform MRI in children with seizures
The first seizure is in children under 2 years
Focal seizures
There is no response to first line anti-epileptic medications
first-response management of seizures
- Put the patient in a safe position (e.g. on a carpeted floor)
- Place in the recovery position if possible
- Put something soft under their head to protect against head injury
- Remove obstacles that could lead to injury
- Make a note of the time at the start and end of the seizure
- Call an ambulance if lasting more than 5 minutes or this is their first seizure.
definition of status epilepticus
It is defined as a seizure lasting more than 5 minutes or 2 or more seizures without regaining consciousness in the interim.
management of status epileptics (A-E)
- 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
If the seizures persist the final step is an infusion of IV phenobarbital or phenytoin. At this point intubation and ventilation to secure the airway needs to be considered, along with transfer to the intensive care unit if appropriate.
definition of simple vs complex febrile convulsions
Simple febrile convulsions are generalised, tonic clonic seizures. They last less than 15 minutes and only occur once during a single febrile illness.
Febrile convulsions can be described as complex when they consist of partial or focal seizures, last more than 15 minutes or occur multiple times during the same febrile illness.
risk of developing epilepsy after febrile convulsions
1.8% for the general population
2-7.5% after a simple febrile convulsion
10-20% after a complex febrile convulsion
risk of having another febrile convulsion after the first
1 in 3
types of cerebral palsy
Spastic: hypertonia (increased tone) and reduced function resulting from damage to upper motor neurones
Dyskinetic: 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: problems with coordinated movement resulting from damage to the cerebellum
Mixed: a mix of spastic, dyskinetic and/or ataxic features
examination signs in cerebral palsy
- hemiplegic or diplegic gait
- UMN signs > good muscle bulk, inc. tone, brisk reflexes, slightly reduced power
- extramyrpymidal signs
- cerebellar signs
management of squints
Must be before age 8
Occlusive patch to cover good eye and force the weaker eye to develop. Or Atropine drops in good eye to cause blurring of vision.
what is the most common congenital cause of hydrocephalus
aqueductal stenosis aka stenosis of the aqueduct between the third and fourth ventricle.
cause of duchennes muscular dystrophy
defective gene for dystrophin on the x-chromosome.
X-linked recessive.
life expectancy muscular dystophy
25-35 years
blood results in restrictive eating disorders
Anaemia (low haemoglobin)
Leucopenia (low white cell count)
Thrombocytopenia (low platelets)
Hypokalaemia (low potassium – due to vomiting or excessive laxatives)
electrolytes imbalances in refeeding disorder
Hypomagnesaemia (low serum magnesium)
Hypokalaemia (low serum potassium)
Hypophosphataemia (low serum phosphate)
Fluid overload (due to water following the extra sodium into the extracellular space)
how to manage refeeding to avoid refeeding syndrome
- Slowly reintroducing food with limited calories
- Magnesium, potassium, phosphate and glucose monitoring
- Fluid balance monitoring
- ECG monitoring in severe cases
Supplementation with electrolytes and vitamins, particularly B vitamins and thiamine
at what age do tics present
around or after 5 yrs
management of severe tics
- Habit reversal training
- Exposure with response prevention
- Medications may be tried in very severe cases, usually with antipsychotic medications
difference between fetal and adult Hb
Fetal haemoglobin (HbF) has two alpha and two gamma subunits.
Adult haemoglobin (HbA) has two alpha and two beta subunits.
this means fetal Hb has higher affinity for O2 than adult Hb.
what percentage fetal Hb and adult Hb is present at birth
50/50
what medication is used to increase production of Hbf in sickle cell anaemia
Hydroxycarbamide
causes of microcytic anaemia (TAILS)
T – Thalassaemia
A – Anaemia of chronic disease
I – Iron deficiency anaemia
L – Lead poisoning
S – Sideroblastic anaemia
causes of normocytic anaemia 3As, 2Hs
A – Acute blood loss
A – Anaemia of Chronic Disease
A – Aplastic Anaemia
H – Haemolytic Anaemia
H – Hypothyroidism
FBC results in IDA
- Hb low
- Ferritin low or normal (especially if ongoing inflammation)
- TIBC and transferrin high
peak age for ALL and AML
ALL peaks aged 2 – 3 years
AML peaks aged under 2 years
Management of suspected leukaemia
NICE recommend referring any child with unexplained petechiae or hepatomegaly for immediate specialist assessment.
If leukaemia is suspected based on the non-specific signs above, NICE recommend a very urgent full blood count within 48 hours.
investigation (and findings) for leukaemia
Full blood count, which can show anaemia, leukopenia, thrombocytopenia and high numbers of the abnormal WBCs
Blood film, which can show blast cells
Bone marrow biopsy
Lymph node biopsy
prognosis for ALL and AML
The overall cure rate for ALL is around 80%, but prognosis depends on individual factors. The outcomes are less positive for AML.
What is ITP
Idiopathic thrombocytopenic purpura (ITP) is a condition characterised by idiopathic (spontaneous) thrombocytopenia (low platelet count) causing a purpuric rash (non-blanching rash).
ITP is caused by a type II hypersensitivity reaction. It is caused by the production of antibodies that target and destroy platelets. This can happen spontaneously, or it can be triggered by something, such as a viral infection.
presentation of ITP
Idiopathic thrombocytopenic purpura usually present in children under 10 years old. Often there is a history of a recent viral illness. The onset of symptoms occurs over 24 – 48 hours:
Bleeding, for example from the gums, epistaxis or menorrhagia
Bruising
Petechial or purpuric rash, caused by bleeding under the skin
Management of ITP
The condition can be confirmed by doing an urgent full blood count for the platelet count. Other values on the FBC should be normal. Other causes of a low platelet count should be excluded, for example heparin induced thrombocytopenia and leukaemia.
The severity and management depends on how low the platelet count falls. Usually no treatment is required and patients are monitored until the platelets return to normal.
Treatment may be required if the patient is actively bleeding or severe thrombocytopenia (platelets below 10):
- Prednisolone
- IV immunoglobulins
- Blood transfusions if required
- Platelet transfusions only work temporarily
management of sickle cell crisis
- Low threshold for admission to hospital
- Treating infections that may have triggered the crisis
- Keep warm
- Good hydration (IV fluids may be required)
- Analgesia (NSAIDs should be avoided where there is renal impairment)
splenic sequestration crisis
red blood cells block flow within the spleen = enlarged & painful spleen. Can lead to severe anaemia and hypovolaemic shock.
Mx > supportive, blood transfusions and fluid resus
splenectomy in recurrent cases
aplastic crisis
temporary absence of creation of new red blood cells triggered by parovirus B19.
Leads to significant anaemia. Mx supportive +- blood transfusions.
Usually resolves spontaneously within a week
acute chest syndrome
vessels supplying lungs become clogged by RBC.
Acute chest syndrome presents with fever, SOB, chest pain, cough and hypoxia. CXR shows pulmonary infiltrates.
Mx >
- Analgesia
- IV fluids
- Antibiotics / antivirals if infection suspected
- Blood transfusions
- Incentive spirometry
- Respiratory support
what monoclonal antibody is given in sickle cell disease to prevent RBC sticking to blood vessels
Crizanlizumab (targets P-selectin)
what is Thalassaemia
Thalassaemia is related to a genetic defect in the protein chains that make up haemoglobin. Normal haemoglobin consists of 2 alpha and 2 beta globin chains. Defects in the alpha globin chains lead to alpha thalassaemia. Defects in the beta globin chains lead to beta thalassaemia. Both conditions are autosomal recessive.
This causes RBC to become more fragile and breakdown more easily.
signs and symptoms of beta thalassaemia
Microcytic anaemia (low mean corpuscular volume)
Fatigue
Pallor
Jaundice
Gallstones
Splenomegaly
Poor growth and development
Pronounced forehead and malar eminences
why does iron overload occur in thalassaemia
faulty creation of red blood cells, recurrent transfusions and increased absorption of iron in the gut in response to anaemia.
hereditatory spherocytosis _ what and who.
Hereditary spherocytosis is a condition where the red blood cells are sphere shaped, making them fragile and easily destroyed when passing through the spleen. It is the most common inherited haemolytic anaemia in northern Europeans. It is an autosomal dominant condition.
presentation of hereditatory spherocytosis
Jaundice
Anaemia
Gallstones
Splenomegaly
can also present with haemolytic crisis triggered by infection or aplastic crisis often triggered by parovirus.
investigation and findings in hereditory spherocytosis
Hereditary spherocytosis is diagnosed by family history and clinical features, along with spherocytes on the blood film.
The mean corpuscular haemoglobin concentration (MCHC) is raised on a full blood count.
Reticulocytes will be raised due to rapid turnover of red blood cells.
management of hereditory spherocytosis
Treatment is with folate supplementation and splenectomy. Removal of the gallbladder (cholecystectomy) may be required if gallstones are a problem. Transfusions may be required during acute crises.
what ethnicities is G6PD deficiency: what and who
deficiency in G6PD enzyme found in all cells in body. Particularly important in RBC, without it RBC undergo haemolysis.
Inherited in X-linked recessive pattern (usually affects males)
Mediterranean, Middle Eastern and African patients
what is seen on blood film fro G6PD
Heinz bodies (blobs of denatured Hb within RBCs)
Mx G6PD deficiency
Patient should avoid triggers to acute haemolysis where possible. This includes avoiding fava beans and certain medications.
Medications that trigger haemolysis and should be avoided include:
Primaquine (an antimalarial)
Ciprofloxacin
Nitrofurantoin
Trimethoprim
Sulfonylureas (e.g gliclazide)
Sulfasalazine and other sulphonamide drugs
Type 1 allergy
IgE antibodies to a specific allergen trigger mast cells and basophils to release histamines and other cytokines.
This causes an immediate reaction. Typical food allergy reactions, where exposure to the allergen leads to an acute reaction, range from itching, facial swelling and urticaria to anaphylaxis
Type 2 Allergy
IgG and IgM antibodies react to an allergen and activate the complement system, leading to direct damage to the local cells. Examples are haemolytic disease of the newborn and transfusion reactions.
Type 3 Allergy
Immune complexes accumulate and cause damage to local tissues. Examples are autoimmune conditions such as systemic lupus erythematosus (SLE), rheumatoid arthritis and Henoch-Schönlein purpura (HSP)
Type 4 allergy
Cell mediated hypersensitivity reactions caused by T lymphocytes. T-cells are inappropriately activated, causing inflammation and damage to local tissues. Examples are organ transplant rejection and contact dermatitis.
what to do after anaphylaxis
admit child to paediatric unit for assessment and observation. In case of biphasic reactions.
Confirm anaphylaxis by measuring the serum mast cell tryptase within 6hrs.
education and follow-up with family and child.
referral for training on how to use an adrenalin auto-injector.
examples of non-sedating vs sedating antihistamines
Non-sedating antihistamines include cetirizine, loratadine and fexofenadine
Sedating antihistamines include chlorphenamine (Piriton) and promethazine
diagnosis of cows milk protein allergy
skin prick testing can support diagnosis but is not always needed.
management of cows milk protein allergy
- Breast feeding mothers should avoid dairy products
- Replace formula with special hydrolysed formulas designed for cow’s milk allergy
every 6 months or so infants should try consuming small quantities of milk and working up the “milk ladder” to see if resolved
what age do most children grow out of cows milk protein allergy
age 3 (often earlier)
Cow’s Milk Intolerance versus Cow’s Milk Allergy
in cows milk intolerance you get same GI symptoms as allergy but no allergic feat (cough, rasg, angio-oedema, sneeze etc)
Infants with cow’s milk intolerance will grow out of it by 2 – 3 years. They can be fed with breast milk, hydrolysed formulas and weaned to foods not containing cow’s milk. After one year of age they can be started on the milk ladder.
what is severe combined immunodeficiency syndrome
Severe combined immunodeficiency (SCID) is the most severe condition causing immunodeficiency. Children with SCID have almost no immunity to infections. It is a syndrome caused by a number of different genetic disorders that result in absent or dysfunctioning T and B cells.
management of SCID
SCID is fatal unless successfully treated. Management should be in a specialist immunology centre. Management involves treating underlying infections, immunoglobulin therapy, minimising the risk of new infections with a sterile environment, avoiding live vaccines and performing haematopoietic stem cell transplantation
at what age and temp do you treat urgently for sepsis
<3 months with temperature >38 degrees
pathophysiology of sepsis
The causative pathogens are recognised by macrophages, lymphocytes and mast cells. These cells release vast amounts of cytokines, such as interleukins and tumor necrosis factor, to alert the immune system to the invader. These cytokines activate other parts of the immune system. This immune activation leads to further release of chemicals such as nitrous oxide that causes vasodilation. The immune response causes inflammation throughout the body.
Many of these cytokines cause the endothelial lining of blood vessels to become more permeable. This causes fluid to leak out of the blood into the extracellular space, leading to oedema and a reduction in intravascular volume. The oedema around blood vessels creates a space between the blood and the tissues, reducing the amount of oxygen that reaches the tissues.
Activation of the coagulation system leads to deposition of fibrin throughout the circulation, further compromising organ and tissue perfusion. It also leads to consumption of platelets and clotting factors, as they are being used up to form the blood clots. This leads to thrombocytopenia, haemorrhages and an inability to form clots and stop bleeding. This is called disseminated intravascular coagulopathy (DIC).
Blood lactate rises as a result of anaerobic respiration in the hypo-perfused tissues with an inadequate oxygen. A waste product of anaerobic respiration is lactate.
what is septic shock
when sepsis leads to cardiovascular dysfunction. Arterial BP falls > organ hypo-perfusion > rise in blood lactate as organs begin anaerobic respiration.
what are assessed using the NICE traffic light system for seriously ill children
Colour: normal colour versus cyanosis, mottled pale or ashen
Activity: active, happy and responsive versus abnormal responses, drowsy or inconsolable cry
Respiratory: normal breathing versus respiratory distress, tachypnoea or grunting
Circulation and hydration: normal skin and moist membranes versus tachycardia, dry membranes or poor skin turgor
Other: other concerning signs, such as fever > 5 days, non blanching rash, seizures or high temperatures < 6 months
when do NICE recommend lumbar punctures
Under 1 month presenting with fever
1 to 3 months with fever and are unwell
Under 1 year with unexplained fever and other features of serious illness
management of bacterial meningitis in the community
stat injection of Benzylpenicillin (IM or IV).
Giving antibiotics should not delay transfer.
management of bacterial meningitis in the hospital
LP before startign Abx
send blood for meningococcal PCR if this is suspected.
Under 3 mnths > cefotaxime plus Amoxicillin
Above 3 mnths > Ceftriaxone
add vancomycin is risk of penicillin resistant pneumococcal infection eg recent foreign traval or prolonged antibiotic exposure
steroids given if LP suggestive of bacterial meningitis to prevent hearing loss (dexamethasone 4x day for 4 days)
notify public health
post exposure prophylaxis for meningococcal infections
single dose of Ciprofloxacin
ideally within 24 hrs of diagnosis
LP results in bacterial infection
appearance > cloudy
protein > high
glucose > low
WCC > high (neutrophils)
culture > bacteria isolated
complications of meningitis
Hearing loss is a key complication
Seizures and epilepsy
Cognitive impairment and learning disability
Memory loss
Cerebral palsy, with focal neurological deficits such as limb weakness or spasticity
what is used to treat CMV encephalitis
Ganciclovir
WHat happens when you give Amoxicillin to someone with Mononucleosis
develop an itchy maculopapular rash
complications of EBV/ mononucleoisis
Splenic rupture
Glomerulonephritis
Haemolytic anaemia
Thrombocytopenia
Chronic fatigue
EBV infection is associated with certain cancers, notable Burkitt’s lymphoma.
mode of delivery in mothers with HIV
Normal vaginal delivery is recommended for women with a viral load < 50 copies / ml
Caesarean sections are considered in patients with > 50 copies copies / ml and in all women with > 400 copies / ml
IV zidovudine should be given during the caesarean if the viral load is unknown or there are > 10000 copies / ml
HIV prophylaxis for babys based on mums viral load
Low risk babies, where mums viral load is < 50 copies per ml, should be given zidovudine for 4 weeks
High risk babies, where mums viral load is > 50 copies / ml, should be given zidovudine, lamivudine and nevirapine for 4 weeks
breastfeeding with HIV
HIV can be transmitted during breastfeeding, even if the mother’s viral load is undetectable. Breastfeeding is never recommended for mothers with HIV, however if the mum is adamant and the viral load is undetectable, sometimes it is attempted with close monitoring by the HIV team.
testing in children with HIV positive parents
HIV viral load test at 3 months. If this is negative, the child has not contracted HIV during birth and will not develop HIV unless they have further exposure.
HIV antibody test at 24 months. This is to assess whether they have contracted HIV since their 3 month viral load, for example through breast feeding. If the 3 month test is negative and they are not breastfed, this should be negative.
Hep B antibodies and meanings
Surface antigen (HBsAg) – active infection
E antigen (HBeAg) – marker of viral replication and implies high infectivity
Core antibodies (HBcAb) – implies past or current infection
Surface antibody (HBsAb) – implies vaccination or past or current infection
Hepatitis B virus DNA (HBV DNA) – this is a direct count of the viral load
how to treat neonates with Hep B positive mothers
Within 24 hrs of birth give:
1. Hep B vaccine
2. Hep B immunoglobulin infusions
additional vaccines at 1 and 12 months and 3x more as part of normal 6-in-1 childhood vaccine schedule
Tested for HBsAg at 1 year ro see if they’ve contracted Hep B
testing of children with Hep C positive mothers
tested at 18 months of age.
centor criteria for tonsilitis
A score of 3 or more gives a 40 – 60 % probability of bacterial tonsillitis, and it is appropriate to offer antibiotics. A point is given if each of the following features are present:
- Fever over 38ºC
- Tonsillar exudates
- Absence of cough
- Tender anterior cervical lymph nodes (lymphadenopathy)
FeverPAIN score fro tonsillitis
score of 2 – 3 gives a 34 – 40% probability and 4 – 5 gives a 62 – 65% probability of bacterial tonsillitis:
Fever during previous 24 hours
P – Purulence (pus on tonsils)
A – Attended within 3 days of the onset of symptoms
I – Inflamed tonsils (severely inflamed)
N – No cough or coryza
what to prescribe for tonsilitis
Penicillin V (phenoxymethylpenicillin) 1o days.
clarithromycin if allergic
most common cause of tonsillits (and Quinsy)
Group A Strep (Streptococcus Pyogenes)
management of quinsy
refer as inpatient under ENT for incision and drainage under GA.
ABx e.g. Co-Amoxiclav
Sometimes add steroids to reduce inflammation
indications for tonsillectomy
7 or more in 1 year
5 per year for 2 years
3 per year for 3 years
Other indications are:
- Recurrent tonsillar abscesses (2 episodes)
- Enlarged tonsils causing difficulty breathing, swallowing or snoring
management of post tonsillectomy bleeding
- Call the ENT registrar and get them involved early
- Get IV access and send bloods including a FBC, clotting screen, group and save and crossmatch
- Keep the child calm and give adequate analgesia
- Sit them up and encourage them to spit the blood rather than swallowing
- Make the child nil by mouth incase an anaesthetic and operation is required
- IV fluids for maintenance and resuscitation as required
if less severe can try:
- hydrogen peroxide
- adrenaline soaked swab applied topically
most common cause of otitis media (and other ENT infections)
streptococcus pneumoniae
other
- Haemophilus influenzae
- moraxella catarrhalis
- staphylococcus aureus
when to prescribe antibiotics in otitis media
Consider prescribing antibiotics at the initial presentation in patients who have significant co-morbidities, are systemically unwell or are immunocompromised. Children less than 2 years with bilateral otitis media and children with otorrhoea (discharge) are more likely to benefit from antibiotics.
antibiotics for otitis media
The first line choice of antibiotic is amoxicillin for 5 days. Alternatives are erythromycin and clarithromycin.
management of Glue Ear
- Referral for audiometry to help establish the diagnosis and extent of hearing loss.
- Glue ear is usually treated conservatively, and resolves without treatment within 3 months.
- Children with co-morbidities affecting the structure of the ear, such as Down’s syndrome or cleft palate may require hearing aids or grommets.
what are Grommets
Grommets are tiny tubes inserted into the tympanic membrane by an ENT surgeon.
This allows fluid from the middle ear to drain through the tympanic membrane to the ear canal. Usually grommets are inserted under general anaesthetic as a day case procedure. The procedure is relatively safe with few complications.
Grommets usually fall out within a year, and only 1 in 3 patients require further grommets to be inserted for persistent glue ear.
what type of hearing test is the newborn hearing screening
automated otoacoustic emission test.
If uncelar results offer a second test known as a automated auditory brainstem response test
where do noseblleds originate from
They originate from Kiesselbach’s plexus, which is also known as Little’s area.
general advice for nosebleeds
Sit up and tilt the head forwards. Tilting the head backwards is not advised as blood will flow towards the airway.
Squeeze the soft part of the nostrils together for 10 – 15 minutes
Spit any blood in the mouth out rather than swallowing
when to consider emergency admission for nosebleeds
When bleeding does not stop after 10 – 15 minutes, the nosebleed is severe, from both nostrils or they are unstable, patients may require admission to hospital.
treatment of severe nose bleeds
- Nasal packing using nasal tampons or inflatable packs
- Nasal cautery using a silver nitrate stick
After treating a nosebleed consider prescribing naseptin (chlorhexidine and neomycin) four times daily for 10 days to reduce any crusting, inflammation and infection. This is contraindicated in peanut or soya allergy.
what is a cystic hygroma
malformation of the lymphatic system resulting in a cyst filled with lymphatic fluid.
most common in the posterior triangle on the left side.
Key features of a cystic hygroma
Cystic hygromas most commonly present in the neck or armpit. They:
- Can be very large
- Are soft
- Are non-tender
- Transilluminate
To transilluminate the cystic hygroma, hold a pen torch flat against the skin and watch as the whole thing lights up like a bulb.
treatment of cystic hygroma
Treatment varies based on the size, location and complications. Watching and waiting can be appropriate as it is a benign condition. They do not resolve spontaneously, but can show some regression.
Aspiration (giving temporary improvement), surgical removal and sclerotherapy are treatment options.
what is a thyroglossal cyst
persistence of an anatomical structure present in normal development called a thyroglossal duct. This fills with fluid forming a cyst.
found in front of the trachea.
Features of a thyroglossal cyst
Thyroglossal cysts usually occur in the midline of the neck. They are:
- Mobile
- Non-tender
- Soft
- Fluctuant
Thyroglossal cysts move up and down with movement of the tongue. This is a key feature that demonstrates a midline neck lump is a thyroglossal cyst. This occurs due to the connection between the thyroglossal duct and the base of the tongue.
management of thyroglossal cyst
Ultrasound or CT scan can confirm the diagnosis.
Thyroglossal cysts are usually surgically removed to provide confirmation of the diagnosis on histology and prevent infections. The cyst can reoccur after surgery unless the full thyroglossal duct is removed.
What is a Branchial cyst
abnormality arising from the second brachial cleft. leaves a space surrounded by epithelial tissue in the lateral aspect of the neck. This can fill with fluid.
present as round, soft, cystic swelling between the angle of the jaw and the sternocleidomastoid muscle in the anterior triangle of the neck.
how are growth plate fractures graded
Salter-Harris Classification:
Use the SALTR mnemonic to remember the types:
Type 1: Straight across
Type 2: Above
Type 3: BeLow
Type 4: Through
Type 5: CRush
what is a greenstick fracture
when only one side of bone fractures
what is a buckle fracture
when bone buldges out without breaking
red flags for hip pain
Child under 3 years
Fever
Waking at night with pain
Weight loss
Anorexia
Night sweats
Fatigue
Persistent pain
Stiffness in the morning
Swollen or red joint
criteria for urgent referral for assessment of limping child
Child under 3 years
Child older than 9 with a restricted or painful hip
Not able to weight bear
Evidence of neurovascular compromise
Severe pain or agitation
Red flags for serious pathology
Suspicion of abuse
how long are antibiotics usually given for in septic arthirits
3 to 6 weeks
management of transient synovitis
Managed in primary care if limp present for less than 48hrs.
Need to give clear safety netting advice to attend A&E immediately if not resolving or develop a fever.
Follow up after 48hrs and 1 week to ensure symptoms have fully resolved.
management of Perthes disease
IN mild-mod manage conservatively:
- bed rest
- traction
- crutches
- analgesia
physiotherapy
regular XR
surgery if severe, older children and not healing.
what is found on examination of SUFE
patients prefer to keep hip in external rotation as restricted internal rotation.
Management of SUFE
surgery to correct position of the femoral head and prevent it slipping further.
risk factors for osteomyelitis
- Open bone fracture
- Orthopaedic surgery
- Immunocompromised
- Sickle cell anaemia
- HIV
- Tuberculosis
Investigations in osteomyelitis
Xrays are often the initial investigation, but can be normal in osteomyelitis. MRI is the best imaging investigation for establishing a diagnosis. A bone scan is an alternative.
Blood tests will show raised inflammatory markers (CRP and ESR) and white blood cells in response to the infection.
Blood culture is important in establishing the causative organism. A bone marrow aspiration or bone biopsy with histology and culture may be necessary.
management of osteomyelitis
Treatment requires extensive and prolonged antibiotic therapy. They may require surgery for drainage and debridement of the infected bone.
common sites for osteosarcoma
most common > femur
other > tibia & humerus
NICE guidelines for diagnosis of sarcoma
NICE guidelines recommend a very urgent direct access xray within 48 hours for children presenting with unexplained bone pain or swelling. If the xray suggests a possible sarcoma they need very urgent specialist assessment within 48 hours
XR show “fluffy” appearance of bone. Periosteal reaction (irritation of the bone lining) known as “Sun-burst” appearance.
Blood tests > raised ALP
management of osteosarcoma
Management involves surgical resection of the lesion, often with a limb amputation. Adjuvant chemotherapy is used alongside surgery to improve outcomes.
presentation of osteosarcoma
main > persistent bone pain, particularly worse at night. May disturb or wake up from sleep.
other>
- bone swelling
- palpable mass
- restricted joint movements
ponseti method for treating club foot
manipulat foot towards a normal position and apply cast to fold in position. repeat until foot in correct position.
+ achilles tenotomy to release tension in achilles tendon performed in clinic.
brace then used to hold feet in correct position when not walking until child aged 4.
Risk factors for DDH
- First degree family history
- Breech presentation from 36 weeks onwards
- Breech presentation at birth if 28 weeks onwards
- Multiple pregnancy
management DDH
Treatment typically involves a Pavlik harness if the baby presents at less than 6 months of age. The Pavlik harness is fitted and kept on permanently, adjusting for the growth of the baby. The aim is to hold the femoral head in the correct position to allow the hip socket (acetabulum) to develop a normal shape. This harness keeps the baby’s hips flexed and abducted. The child is regularly reviewed and the harness is removed when their hips are more stable, usually after 6 – 8 weeks.
Surgery is required when the harness fails or the diagnosis is made after 6 months of age. After surgery is performed, an hip spica cast is used to immobilises the hip for a prolonged period.
bony deformities in rickets
- Bowing of the legs, where the legs curve outwards
- Knock knees, where the legs curve inwards
- Rachitic rosary, where the ends of the ribs expand at the costochondral junctions, causing lumps along the chest
- Craniotabes, which is a soft skull, with delayed closure of the sutures and frontal bossing
- Delayed teeth with under-development of the enamel
blood results in rickets
Serum calcium may be low
Serum phosphate may be low
Serum alkaline phosphatase may be high
Parathyroid hormone may be high
what is achondroplasia
The achondroplasia gene, fibroblast growth factor receptor 3 (FGFR3), is on chromosome 4. Achondroplasia results from either a sporadic mutation or inheritance of an abnormal copy of this gene. The condition is inherited in an autosomal dominant pattern. Homozygous gene mutations, meaning two abnormal gene copies with one from each parent, is fatal in the neonatal period. Therefore, patients with achondroplasia have one normal gene and one abnormal gene.
Mutations in the FGFR3 gene causes abnormal function of the epiphyseal plates (growth plates). This restricts the bone growth in length, leading to short bones and short stature.
associations fo achondroplasia
- Recurrent otitis media, due to cranial abnormalities
- Kyphoscoliosis
- Spinal stenosis
- Obstructive sleep apnoea
- Obesity
- Foramen magnum stenosis can lead to cervical cord compression and hydrocephalus
epidemiology of osgood-schlatters disease
It typically occurs in patients aged 10 – 15 years, and is more common in males. Osgood-Schlatter disease is usually unilateral, but it can be bilateral.
what is osteogenesis imperfecta
Osteogenesis imperfecta is a genetic condition that results in brittle bones that are prone to fractures. It is also knowns as brittle bone syndrome. It is caused by a range of genetic mutations that affect the formation of collagen. Collagen is a protein that is essential is maintaining the structure and function of bone, as well as skin, tendons and other connective tissues. There are 8 types of osteogenesis imperfecta depending on the underlying genetic mutation, and they vary in their severity
presentation of osteogenesis imperfecta
recurrent and inappropriate fractures
assoc. feat:
- Hypermobility
- Blue / grey sclera (the “whites” of the eyes)
- Triangular face
- Short stature
- Deafness from early adulthood
- Dental problems, particularly with formation of teeth
- Bone deformities, such as bowed legs and scoliosis
Joint and bone pain
management of osteogenesis imperfecta
bisphosphates
Vit D Supplements
MDT team
when to USS fro DDH
at 4-6 wks if:
- baby born in breech position
- FHx of childhood hip problems
what is juvenile idiopathic arthritis
autoimmune inflammation of the joints without any other cause for more than 6 weeks under the age of 16.
what is Still’s disease / Systemic JIA
a systemic illness occurring throughout childhood (and adulthood). idiopathic inflammatory conditions.
Feat:
- subtle salmon-pink rash
- high swinging fevers
- enlarged lymph nodes
- weight loss
- joint inflammation and pain
- splenomegaly
- muscle pain
- pleuritis and pericarditis
key complication is macrophage activation syndrome (MAS) > DIC, anaemia, thrombocytopenia, bleeding, non-blanching rash.
4 types of ehlers danlos
- hypermobile ehlers-danlos
- classical ehlers-danlos
- vascular ehlers-danlos
- kyphoscoliotic ehlers-danlos
beighton score
maximum score of 9 >
Place their palms flat on the floor with their straight legs (scores only 1)
Hyperextend their elbows
Hyperextend their knees
Bend their thumb to touch their forearm
Hyperextend their little finger past 90 degrees
what is henoch-schonlein purpura
Henoch-Schonlein Purpura (HSP) is an IgA vasculitis that presents with a purpuric rash affecting the lower limbs and buttocks in children. Inflammation occurs in the affected organs due to IgA deposits in the blood vessels.
It affects the skin, kidneys and gastro-intestinal tract. The condition is often triggered by an upper airway infection or gastroenteritis. It is most common in children under the age of 10 years.
what are the 4 classical features of henoch-schonlein purpura
Purpura (100%),
Joint pain (75%),
Abdominal pain (50%)
Renal involvement (50%)
differentials for non-blanching rash
- Meningococcal septicaemia
- Leukaemia
- Idiopathic thrombocytopenic purpura
- Haemolytic uraemic syndrome
prognosis for HSP
Abdominal pain usually settles within a few days.
Patients without kidney involvement can expect to fully recover within 4 to 6 weeks.
A third of patients have a recurrence of the disease within 6 months.
A very small proportion of patients will develop end stage renal failure.
what is kawasaki disease
Kawasaki disease is also known as mucocutaneous lymph node syndrome. It is a systemic, medium-sized vessel vasculitis. It affects young children, typically under 5 years. There is no clear cause or trigger. It is more common in Asian children, particularly Japanese and Korean children. It is also more common in boys. A key complication is coronary artery aneurysm.
clinical features of kawasaki disease
A key feature that should make you consider Kawasaki disease is a persistent high fever (above 39ºC) for more than 5 days. Children will be unhappy and unwell. The key skin findings are a widespread erythematous maculopapular rash and desquamation (skin peeling) on the palms and soles.
Other features include:
- Strawberry tongue (red tongue with large papillae)
- Cracked lips
- Cervical lymphadenopathy
- Bilateral conjunctivitis
management of kawasaki disease
There are two first line medical treatments given to patients with Kawasaki disease:
- High dose aspirin to reduce the risk of thrombosis
- IV immunoglobulins to reduce the risk of coronary artery aneurysms
Patients will need close follow up with echocardiograms to monitor for evidence of coronary artery aneurysms.
what is rheumatic fever
Acute rheumatic fever is an autoimmune condition triggered by Grp A streptococcus bacteria. It is caused by antibodies created against the streptococcus bacteria that also target tissues in the body.
It is a multi-system disorder that affects the joints, heart, skin and nervous system. It is rare in the UK due to early treatment of streptococcus with antibiotics.
Type 2 hypersensitivity reaction 2-4 wks after initial infection.
how is rheumatic fever diagnosed
A diagnosis of rheumatic fever can be made when there is evidence of recent streptococcal infection, plus:
Two major criteria OR
One major criteria plus two minor criteria
The mnemonic for the Jones criteria is JONES – FEAR.
Major Criteria:
J – Joint arthritis
O – Organ inflammation, such as carditis
N – Nodules
E – Erythema marginatum rash
S – Sydenham chorea
Minor Criteria:
Fever
ECG Changes (prolonged PR interval) without carditis
Arthralgia without arthritis
Raised inflammatory markers (CRP and ESR)
management of rheumatic fever
Patients with clinical features of rheumatic fever should be referred immediately for specialist management. Management involves medications and follow up:
- NSAIDs (e.g. ibuprofen) are helpful for treating joint pain
- Aspirin and steroids are used to treat carditis
- Prophylactic antibiotics (oral or intramuscular penicillin) are used to prevent further streptococcal infections and recurrence of the rheumatic fever. These are continued into adulthood.
- Monitoring and management of complications
pathophysiology of eczema
The simplified pathophysiology is that eczema is caused by defects in the barrier that the skin provides. Tiny gaps in the skin barrier provide an entrance for irritants, microbes and allergens that create an immune response, resulting in inflammation and the associated symptoms.
examples of thin vs thick emolients for eczema
Thin creams:
E45
Diprobase cream
Oilatum cream
Aveeno cream
Cetraben cream
Epaderm cream
Thick, greasy emollients:
50:50 ointment (50% liquid paraffin)
Hydromol ointment
Diprobase ointment
Cetraben ointment
Epaderm ointment
steroid ladder for eczema
Mild: Hydrocortisone 0.5%, 1% and 2.5%
Moderate: Eumovate (clobetasone butyrate 0.05%)
Potent: Betnovate (betamethasone 0.1%)
Very potent: Dermovate (clobetasol propionate 0.05%
treatment of bacterial infection in eczema
mild - oral flucloxacillin
severe - admit for IV antibiotics
presentation of eczema herpeticum
A typical presentation is a patient who suffers with eczema that has developed a widespread, painful, vesicular rash with systemic symptoms such as fever, lethargy, irritability and reduced oral intake. There will usually be lymphadenopathy (swollen lymph nodes).
treatment for eczema herpeticum
oral or IV aciclovir
what is guttate psioriasis
Guttate psoriasis is the second most common form of psoriasis and commonly occurs in children. It presents with many small raised papules across the trunk and limbs. The papules are mildly erythematous and can be slightly scaly. Over time the papules in guttate psoriasis can turn into plaques. Guttate psoriasis is often triggered by a streptococcal throat infection, stress or medications. It often resolves spontaneously within 3 – 4 months.
specific signs of psoriasis
Auspitz sign refers to small points of bleeding when plaques are scraped off
Koebner phenomenon refers to the development of psoriatic lesions to areas of skin affected by trauma
Residual pigmentation of the skin after the lesions resolve
management of psoriasis
Topical steroids
Topical vitamin D analogues (calcipotriol)
Topical dithranol
Topical calcineurin inhibitors (tacrolimus) are usually only used in adults
Phototherapy with narrow band ultraviolet B light is particularly useful in extensive guttate psoriasis
terms used to describe the lesions in acne
- Macules are flat marks on the skin
- Papules are small lumps on the skin
- Pustules are small lumps containing yellow pus
- Comedomes are skin coloured papules representing blocked pilosebaceous units
- Blackheads are open comedones with black pigmentation in the centre
- Ice pick scars are small indentations in the skin that remain after acne lesions heal
- Hypertrophic scars are small lumps in the skin that remain after acne lesions heal
- Rolling scars are irregular wave-like irregularities of the skin that remain after acne lesions heal
treatment for acne
- No treatment may be acceptable if mild
- Topical benzoyl peroxide reduces inflammation, helps unblock the skin and is toxic to the P. acnes bacteria
- Topical retinoids (chemicals related to vitamin A) slow the production of sebum (women of childbearing age need effective contraception)
- Topical antibiotics such as clindamycin (prescribed with benzoyl peroxide to reduce bacterial resistance)
- Oral antibiotics such as lymecycline
- Oral contraceptive pill can help female patients stabilise their hormones and slow the production of sebum
what are the viral exanthemas
First disease: Measles
Second disease: Scarlet Fever
Third disease: Rubella (AKA German Measles)
Fourth disease: Dukes’ Disease
Fifth disease: Parvovirus B19
Sixth disease: Roseola Infantum
what is erythema multiforme
Erythema multiforme is an erythematous rash caused by a hypersensitivity reaction.
leads to ‘target lesions’. Doesn’t usually affect mucus membranes (although can cause a sore mouth).
The most common causes are viral infections and medications. It is also notably associated with the herpes simplex virus (causing coldsores) and mycoplasma pneumonia.
rules for missing school for children with chickenpox
Patients should be kept off school and avoid pregnant women and immunocompromised patients until all the lesions are dry and crusted over. This is usually around 5 days after the rash appears.
what virus causes molluscum contagiosum virus
poxvirus
what is pityriasis rosea
- generalised, self-limiting rash with an unknown cause
- prodomal symtpoms > headache, tiredness, anorexia, flu
- starts with a HERALD PATCH (~2cm)
- 2 or more days after rest of rash appears can take on a CHRISTMAS TREE fashion following the lines of the ribs
heals in ~3 mnths
usually requires no treatment
what is seborrhoeic dermatitis
Seborrhoeic dermatitis is an inflammatory skin condition that affects the sebaceous glands. The sebaceous glands are the oil producing glands in the skin.
It affects areas that have a lot of these glands, such as the scalp, nasolabial folds and eyebrows. It causes erythema, dermatitis and crusted dry skin. In infants it causes a crusted dry flaky scalp, often called cradle cap.
It is thought that Malassezia yeast colonisation has a role to play in the development of seborrhoeic dermatitis, and the condition improves with anti-fungal treatment.
how to treat seborrhoeaic dermatitis
Affecting the scalp>
- ketoconazole shampoo
Affecting the face and body>
- clotrimazole (up to 4 wks)
nappy rash versus candidal infection
Signs that would point to a candidal infection rather than simple nappy rash are:
- Rash extending into the skin folds
- Larger red macules
- Well demarcated scaly border
- Circular pattern to the rash spreading outwards, similar to ringworm
- Satellite lesions, which are small similar patches of rash or pustules near the main rash
Check for oral thrush with a white coating on the tongue, as this is likely to indicate a fungal infection in the nappy area.
management of head lice
Dimeticone 4% lotion can be applied to the hair and left to dry. This is left on for 8 hours (i.e. overnight), then washed off. This process is repeated 7 days later to kill any head lice that have hatched since treatment.
Special fine combs can be used to systematically comb the nits and lice out of the hair. They can be used for detection combing to check the success of treatment. NICE clinical knowledge summaries recommend The Bug Buster kit.
how to treat localised non-bullous impetigo
antiseptic cream (hydrogen peroxide 1% cream) first line rather than antibiotics for localised non-bullous impetigo.
presentation of staphylococcus scalded skin syndrome
- erythemous patches that look thin and wrinkled. Then formation of bullae which burst and leave sore, erythematous skin below. Looks like a scald!
- NIKOLSY SIGN pos. > when gently rubbing skin it peals away.
- systemic symptoms
what are Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN)
Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are a spectrum of the same pathology, where a disproportional immune response causes epidermal necrosis, resulting in blistering and shedding of the top layer of skin.
Generally, SJS affects less that 10% of body surface area whereas TEN affects more than 10% of body surface area.
presentation of SJS and TENS
spectrum of severity.
Usually starts with non-specific symptoms then develops into a purple or red rash that spreads across skin and starts to blister.
Skin starts to shed and reveasl raw tissue.
Can also affect mucous membranes eg eyes become inflammed and ulcerated.
management of SJS/TENS
medical emergency! admit to dermatology or burns unit. Supportive care > nutrition, antiseptics, analgesia, opthamology input.
treat>
steroids, immunoglobulins, immunosupressants
