Paediatrics Flashcards
4 domains for development
gross motor
Fine motor
Language
Personal and social
Milestones for gross motor
4 months - head support 6 months - sitting 9 months - sit unsupported, crawl 12 months - stand and cruising 15 months - walking 18 months - squat 2 years - run, kick a ball 3 years - climbing stairs 4 years - hop, climb
Milestones for fine motor and what to test in developmental assessment
8 weeks - fix and track with eyes 6 months - palmar grasp 9 months - scissor grasp 12 months - pincer grasp 14-18 months - use a spoon
In developmental assessment - test drawing skills, tower of bricks, pencil grasps
Milestones for language
3 months - recognises voices and makes cooing noises
6 months - responds to tone of voice and makes noises with consonants
9 months - listens and makes babbling noises
12 months - follows simple instructions and uses single words
18 months - understands nouns and uses 5-10 words
2 years - understands verbs and uses 2 words combined, 50+ words
3 years - understands adjectives and uses basic sentences
Personal and social developmental milestones
6 weeks - smiles 3 months - communicates pleasure 6 months - curios 9 months - cautious with strangers 12 months - pointing and waving 18 months - imitates 2 years - waves to strangers and parallel play 3 years - bowel control 4 years - friends and dry by nigh t
Red flags in development
Lost developmental milestones Not able to hold an object at 5 months Not sitting unsupported at 12 months Not standing independently at 18 months Not walking independently at 2 years Not running at 2.5 years No words at 18 months No interest in others at 18 months
What is global developmental delay?
a child displaying slow development in all developmental domains
causes of global developmental delay
Down’s syndrome Fragile X syndrome Fetal alcohol syndrome Rett syndrome Metabolic disorders
Causes of developmental delay specifically to gross motor domain
Cerebral palsy Ataxia Myopathy Spina bifida Visual impairment
Causes of developmental delay specifically to fine motor domain
Dyspraxia Cerebral palsy Muscular dystrophy Visual impairment Congenital ataxia (rare)
Causes of developmental delay specifically to language domain
Specific social circumstances, for example exposure to multiple languages or siblings that do all the talking Hearing impairment Learning disability Neglect Autism Cerebral palsy
Causes of developmental delay specially to language domain
Emotional and social neglect
Parenting issues
Autism
Causes of joint swelling in children
Avascular necrosis (e.g. perthes) Reactive (viral, strep, post gastroenteritis) Haematological (leukaemia) Rickets Idiopathic Tumour Infection Systemic (SLE, vasculitis, sarcoidosis, IBD CF) Juvenile idiopathic arthritis (JIA)
What is anaemia?
low level of haemoglobin in the blood.
What is the most common cause of anaemia in children?
Physiologic anaemia of infancy
causes of anaemia in children
Physiologic anaemia of infancy anaemia of prematurity Blood loss Haemolysis Twin-twin transfusion (blood is unequally distributed between twins that share a placenta)
Causes of Haemolysis in neonates
Haemolytic disease of the newborn (ABO incompatibility or rhesus incompatibility)
Hereditary spherocytosis
G6PD deficiency
What is physiologic anaemia of infancy?
There’s a normal dip in Hb at 6-9 weeks old
There’s high Hb levels at birth, so lots of oxygen delivered to tissues. This causes negative feedback to the kidneys so less erythropoietin is produced = less Hb produced by bone marrow
What is anaemia of prematurity?
Premature neonates more likely to become anaemic & required blood transfusion
Reasons for this:
1 Less time in utero receiving iron from mum
2 RBC creation cannot keep up with rapid growth
3 Reduced erythropoietin levels
4 Blood tests remove significant portion of their circulating volume
What is haemolytic disease of the newborn?
Haemolysis (RBC breakdown) and jaundice in a neonate. Caused by rhesus incompatibility or ABO incompatibility
What happens in rhesus incompatibility?
The mum is rhesus D antigen negative and the baby is positive
The blood from the Cetus enters the mums bloodstream and she makes antibodies to rhesus D antigen
Mum is then sensitised to rhesus D antigens
Doesn’t usually cause problems in the first pregnancy - unless sensitisation happens early on due to antepartum haemorrhage
In subsequent pregnancies, the anti-D antibodies can cross the placenta to the foetus
If the foetus is rhesus +ve, the antibodies attach to RBCs and the fetus attacks its own blood cells = Haemolysis
Causes anaemia and high bilirubin
What ix to diagnose immune haemolytic anaemia in a newborn
Direct Coombs test (DCT)
Causes of anaemia in older children
Iron deficiency anaemia due to dietary insufficiency
Blood loss - menstruation in older girls or hookworm in developing countries
Rarer causes: Sickle cell anaemia Thalassaemia Leukaemia Hereditary spherocytosis Hereditary eliptocytosis Sideroblastic anaemia
Symptoms of anaemia
Tiredness Shortness of breath Headaches Dizziness Palpitations Worsening of other conditions
specific symptoms of iron deficiency anaemia
Pica = describes dietary cravings for abnormal things such as dirt
Hair loss
signs of anaemia
Pale skin
Conjunctival pallor
Tachycardia
Raised respiratory rate
signs of iron deficiency anaemia
Koilonychia refers to spoon shaped nails
Angular chelitis
Atrophic glossitis is a smooth tongue due to atrophy of the papillae
Brittle hair and nails can indicate
signs of haemolytic anaemia
jaundice
signs of thalassaemia
bone deformities
Ix for anaemia in children
Full blood count for haemoglobin and MCV
Blood film
Reticulocyte count - immature RBCs. High when there’s active production of RBCs to replace what’s lost e.g. in Haemolysis or blood loss
Ferritin (low iron deficiency)
B12 and folate
Bilirubin (raised in haemolysis)
Direct Coombs test (autoimmune haemolytic anaemia)
Haemoglobin electrophoresis (haemoglobinopathies)
What is anaphylaxis?
Anaphylaxis is a life-threatening medical emergency.
It is caused by a severe type 1 hypersensitivity reaction.
Immunoglobulin E (IgE) stimulates mast cells to rapidly release histamine and other pro-inflammatory chemicals. This is called mast cell degranulation.
This causes a rapid onset of symptoms, with airway, breathing and/or circulation compromise.
Presentation of anaphylaxis in children
Urticaria Itching Angio-oedema, with swelling around lips and eyes Abdominal pain Shortness of breath Wheeze Swelling of the larynx, causing stridor Tachycardia Lightheadedness Collapse
Mx of anaphylaxis in children
call for help - need paediatrician ABCDE approach a - secure airway b - oxygen, salbutamol if wheezing c - IV bolus of fluids d - lie flat for cerebral perfusion e - look for flushing, urticaria and angio-oedema
Definitive mx:
- IM adrenaline (repeat after 5 mins if needed)
- Antihistamines - chlorphenamine or cetirizine
- Steroids - IV hydrocortisone
Keep in for observation - think biphasic reaction
Do serum mast cell tryptase within 6 hours
Education and follow up for family
BLS for parents
Adrenalin auto-injector to take home
What is a biphasic reaction in anaphylaxis?
a second anaphylactic reaction after successful treatment of the first
What blood test in anaphylaxis to confirm diagnosis?
Anaphylaxis can be confirmed by measuring the serum mast cell tryptase within 6 hours of the event.
Tryptase is released during mast cell degranulation and stays in the blood for 6 hours before gradually disappearing.
Who gets an adrenalin auto injector?
all children and adolescents with anaphylactic reactions.
considered in children with generalised allergic reactions (without anaphylaxis) with certain risk factors:
- Asthma requiring inhaled steroids
- Poor access to medical treatment (e.g. rural locations)
- Adolescents, who are at higher risk
- Nut or insect sting allergies are higher risk
- Significant co-morbidities, such as cardiovascular disease
What is an acute exacerbation of asthma?
a rapid deterioration in the symptoms of asthma. This could be triggered by any of the typical asthma triggers, such as infection, exercise or cold weather.
Symptoms of acute asthma exacerbation
Progressively worsening SOB
Signs of respiratory distress
Fast respiratory rate (tachypnoea)
Expiratory wheeze on auscultation heard throughout the chest
The chest can sound “tight” on auscultation, with reduced air entry
A silent chest is an ominous sign.
How is an acute asthma attack graded for severity?
Moderate
Severe
Life threatening
What means an acute asthma attack is classified as moderate?
Peak flow >50% predicted
Normal speech
What means an acute asthma attack is classified as severe?
Peak flow 33-50% predicted
Saturations <92%
Unable to complete sentences in one breath
Signs of respiratory distress
Respiratory rate >40 in 1-5yo or >30 in over 5 yo
HR >140 in 1-5 yo or >125 in over 5 yo
What means an acute asthma attack is classified as life threatening?
Peak flow <33% predicted Saturations <92% Exhaustion and poor respiratory effort Hypotension Silent chest Cyanosis Altered consciousness/confusion
Mx of acute asthma attack
O2
Bronchodilators - salbutamol inhaled/neb, ipratropium inhaled/neb, magnesium sulphate IV, aminophylline IV
Steroids - oral prednisolone or IV hydrocortisone
ABx
Intubation and ICU
Monitor K+ when using high doses of salbutamol
When can you discharge a child with asthma after an acute exacerbation?
when they are having 6 puffs of salbutamol every 4 hours - prescribe a reducing regime of salbutamol for home
Discharge mx plan for children after acute asthma exacerbation
Reducing regime of salbutamol inhaler
Finish steroid course
Safety net
Asthma action plan
What is asthma?
a chronic inflammatory airway disease leading to variable airway obstruction.
1) The smooth muscle in the airways is hypersensitive.
2) The smooth muscle responds to stimuli by constricting and causing airflow obstruction.
3) This bronchoconstriction is reversible with bronchodilators such as inhaled salbutamol.
Symptoms of chronic asthma
Episodic symptoms with intermittent exacerbations
Diurnal variability, typically worse at night and early morning
Dry cough with wheeze and shortness of breath
Typical triggers
A history of other atopic conditions such as eczema, hayfever and food allergies
Family history of asthma or atopy
Bilateral widespread “polyphonic” wheeze heard by a healthcare professional
Symptoms improve with bronchodilators
Triggers for asthma
Dust (house dust mites) Animals Cold air Exercise Smoke Food allergens (e.g. peanuts, shellfish or eggs)
When are children diagnosed with asthma
Not diagnosed until at least 2-3 years old
Ix for asthma
Spirometry with reversibility testing (in children aged over 5 years)
Direct bronchial challenge test with histamine or methacholine
Fractional exhaled nitric oxide (FeNO)
Peak flow variability measured by keeping a diary of peak flow measurements several times a day for 2 to 4 weeks
Medical therapy for chronic asthma in children under 5 years old
- SABA - salbutamol
- low dose ICS / montelukast
- other option from 2
- refer to specialist
Medical therapy for chronic asthma in children aged 5-12 years
- SABA - salbutamol
- low dose ICS
- LABA - salmeterol
- increase ICS to medium dose. consider adding oral montelukast or oral theophylline
- increase ICS to high dose
- refer to specialist
Medical therapy for chronic asthma in children aged over 12 years
same as adults
- SABA - salbutamol
- low dose ICS
- LABA
- Increased ICS to medium dose. consider Adding oral montelukast, oral theophylline or LAMA (tiotropium)
- Increased ICS to high dose and combine additional treatments from step 4
- Oral steroids at lowest possible dose and refer to specialist
Use of inhaled corticosteroids in children
inhaled steroids can slightly reduce growth velocity and can cause a small reduction in final adult height of up to 1cm when used long term (for more than 12 months)
Is dose dependent
Poorly controlled asthma can lead to a more significant impact on growth and development.
What is eczema?
chronic atopic condition caused by defects in the normal continuity of the skin barrier, leading to inflammation in the skin
Risk factors for eczema
family hx
atopy
Symptoms of eczema
Presents in infancy
Dry red itchy sore patches of skin over flexor surfaces (inside elbows and knees) and one face/neck
Flares
Can range from mild to severe
Pathology of eczema
Defects in the skin barrier
Gaps in skin barrier allow for entrance of irritants, microbes and allergens that create an immune response = inflammation
Mx of eczema
Maintenance and flare management
Maintenance =
- Emollients
- Soap substitutes
- lifestyle - use emollients often, after washing and before bed. Avoid things that break down skin barrier e.g. hot baths, scratching or scrubbing skin. Don’t use soaps and body washes.
- avoid environmental triggers - changes in temp, dietary products, washing powders, cleaning products and emotional stress
Flares
- thicker emollients
- topical steroids
- wet wraps
- treat bacterial/viral infections
specialist treatments for severe eczema
- zinc impregnanted bandages
- topical tacrolimus
- phototherapy
- systemic immunosuppressants
- oral corticosteroids
- methotrexate
- azathioprine
Examples of thin creams used as emollients in eczema
E45 Dirpobase cream Oilatum cream Aveeno cream Cetraben cream Epaderm cream
Examples of thick greasy emollients used in severe eczema
50:50 ointment (50% liquid paraffin) Hydromol ointment Diprobase ointment Cetraben ointment Epaderm ointment
Name the steroids in the steroid ladder from weakest to most potent
(Hug Every Budding Dermatologist)
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%)
Side effects of topical steroids
Thinning of the skin
Skin more prone to flares, bruising, tearing, stretch marks and telangiectasia
Most common organism to cause opportunistic bacterial infection in eczema
staphylococcus aureus (mx = flucloxacillin)
What is eczema herpeticum?
viral skin infection in patients with eczema caused by the herpes simplex virus (HSV) or varicella zoster virus (VZV). Patients can be very unwell.
Presentation of eczema herpeticum
Eczema + Widespread painful vesicular rash Vesicles contain pus Fever Lethargy Irritability Reduced oral intake Lymphadenopathy
Ix for eczema herpeticum
Viral swabs/clinical diagnosis
Mx for eczema herpeticum
Acyclovir (may need to be IV)
What is ADHD?
Attention deficit hyperactivity disorder (ADHD) is at the extreme end of “hyperactivity” and inability to concentrate (“attention deficit“).
It affects the person’s ability to carry out everyday tasks, develop normal skills and perform well in school.
Symptoms of ADHD
symptoms must be persistent, across various settings and negatively affecting the child
Very short attention span
Quickly moving from one activity to another
Quickly losing interest in a task and not being able to persist with challenging tasks
Constantly moving or fidgeting
Impulsive behaviour
Disruptive or rule breaking
mx of ADHD
- parent and child education
- Healthy diet and exercise
- 10 week watch and wait period
- medication (last resort and must be >5yo): central nervous system stimulants e.g. methylphenidate (Ritalin), lisdexamfetamine, dexamfetamine, atomoxetine
Diagnosis of ADHA
Persistent features - 6+ in children under 16yo and 5+ in children over 17 yo
Must be an element of developmental delay
INATTENTION features:
- Doesn’t follow through on instructions
- Reluctance to engage in mentally intense tasks
- Easily distracted
- finds it difficult to sustain tasks
- finds it difficult to organise tasks or activities
- often forgetful in daily activities
- often loses things necessary for tasks or activities
- often doesn’t seem to listen when spoken to directly
HYPERACTIVITY/IMPULSIVITY features:
- Unable to play quietly
- Talks excessively
- Doesn’t wait their turn easily
- Spontaneously leaves their seat
- Is often ‘on the go’
- Often interrupts or intrusive
- Will answer prematurely - before a question has been finished
- Will run and climb when its not appropriate
Side effects of methylphenidate
Abdominal pain
Nausea
Dyspepsia
Monitoring for methylphenidate
Weight and height every 6 months Baseline ECG (its cardio toxic)
What is autistic spectrum disorder?
Neuro-developmental disorder
the full range of people affected by a deficit in social interaction, communication and flexible behaviour.
The autistic spectrum has a significant range. On one end patients have normal intelligence and ability to function in everyday life but displaying difficulties with reading emotions and responding to others. This was previously known as Asperger syndrome. On the other end, patients can be severely affected and unable to function in normal environments.
Features of autistic spectrum disorder
Deficits in social interaction, communication and behaviour:
SOCIAL INTERACTION - Lack of eye contact Delay in smiling Avoids physical contact Unable to read non-verbal cues Difficulty establishing friendships Not displaying a desire to share attention (i.e. not playing with others)
COMMUNICATION -
Delay, absence or regression in language development
Lack of appropriate non-verbal communication such as smiling, eye contact, responding to others and sharing interest
Difficulty with imaginative or imitative behaviour
Repetitive use of words or phrases
BEHAVIOUR -
Greater interest in objects, numbers or patterns than people
Stereotypical repetitive movements. There may be self-stimulating movements that are used to comfort themselves, such as hand-flapping or rocking.
Intensive and deep interests that are persistent and rigid
Repetitive behaviour and fixed routines
Anxiety and distress with experiences outside their normal routine
Extremely restricted food preferences
diagnosis of autistic spectrum disorder
Should be made by a specialist
Diagnosis can be made before the age of 3
Detailed history of the child’s behaviour and communication
Assessment in school
Mx of autistic spectrum disorder
MDT:
Child psychology and child and adolescent psychiatry (CAMHS)
Speech and language specialists
Dietician
Paediatrician
Social workers
Specially trained educators and special school environments
Charities such as the national autistic society
Early educational and behavioural interventions
SSRIs - for repetitive stereotyped behaviour, anxiety and aggression
Antipsychotic drugs - for aggression and self injury
Methylphenidate - for ADHD
family support and counselling
Conditions associated with autism spectrum disorder
ADHD
Epilepsy
Higher head circumference to brain volume ratio
What is biliary atresia?
a congenital condition where a section of the bile duct is either narrowed or absent. This results in cholestasis (bile isn’t transported from the liver to bowel).
Conjugated bilirubin is usually excreted in the bile therefore biliary atresia prevents the excretion of conjugated bilirubin
Presentation of biliary atresia
Significant jaundice shortly after birth (high conjugated bilirubin levels)
Persistent jaundice (>14 days in term babies and >21 days in premature babies)
Dark urine and pale stools
Apetite and growth disturbance
Hepatomegaly & splenomegaly
Ix for biliary atresia
Conjugated and unconjugated bilirubin - high proportion of conjugated bilirubin
US of biliary tree and liver
Mx of biliary atresia
Surgery = kasai portoenterostomy
attach section of small intestine to opening of liver where bile duct normally attaches
causes of biliary atresia
pathogenesis is unclear, is a congenital illness contributing factors = - infection - congenital malformations - retained toxins within bile
Who gets biliary atresia
More common in females
Ssen in neonates
Complications of Kasai portoenterostomy for biliary atresia
Unsuccessful anastomosis
Progressive liver disease
Cirrhosis with eventual hepatocellular carcinoma
Prognosis of biliary atresia
- Prognosis good if surgery successful
- Unsuccessful surgery = liver transplant in first 2 years of life
Paediatric BLS guidelines for arrest
Unresponsive child? Call for help Open airway If not breathing: - 5 rescue breaths - Check for signs of circulation - in infants use brachial or femoral pulse and in children use femoral pulse - Chest compressions - 15 compressions: 2 breaths - Attach ECG monitor/defibrillator
Rules for chest compressions in children
Chest compressions should be 100-120 /min
Depth of compression = 4cm in infant and 5cm in child (depresses the lower half of the sternum by at least 1/3rd)
In children compress the lower half of the sternum
In infants use a two thumb encircling technique for chest compression
What is the APGAR score?
Measured out of 10
Used to assess the health of a newborn baby
0-3 low score, 4-6 moderate low, 7-10 normal baby
1) Appearance - 0 blue/pale, 1 blue extremities and 2 pink
2) Pulse - 0 absent, 1 <100 and 2 >100
3) Grimace (response to stimulation) - 0 no response, 1 little response, 2 good response
4) Activity (muscle tone) - 0 floppy, 1 flexed arms/legs, 2 active
5) Respiration - 0 absent, 1 slow/irregular, 2 strong/crying
What are the 3 scenarios in which IV fluids are prescribed for children?
1) Resuscitation fluids - if the child is shocked/haemodynamically compromised
2) Replacement fluids - if the child is dehydrated and is in a fluid deficit e.g. from vomiting/diarrhoea/DKA/burns
3) Maintenance fluids - if there’s no dehydration but the child can’t meet their fluid requirements enterally
What monitoring should be done for children receiving IV fluids?
Monitor U&Es and plasma glucose every 24 hours at least
Signs of dehydration in children
- Appears unwell
- Altered responsiveness
- Sunken eyes
- Tachycardia
- Tachypnoea
- Reduced skin turgor
- Dry mucous membranes
- Decreased urine output
How to calculate routine maintenance fluids for children >28 days old
100ml/kg/day for first 10kg of weight
50ml/kg/day for next 10kg of weight
20ml/kg/day for weight over 20kg
Name of formula used to calculate maintenance fluids for children >28 days old
Holliday-Segar formula
Choice of maintenance fluids for children >28 days old
Isotonic crystalloids (0.9% NaCl) + 5% glucose
How to calculate maintenance fluids for term neonates (<28 days old)
Birth to day 1 = 50-60ml/kg/day
Day 2 = 70-80ml/kg/day
Day 3 = 80-100 ml/kg/day
Day 4 = 100-120 ml/kg/day
Day 5-28 = 120-150 ml/kg/day
How to calculate fluid deficit
Calculate the percentage dehydration:
- 5% dehydrated if signs of dehydration but no red flags
- 10% dehydrated if signs of shock
- Can use formula to calculate it accurately: (well weight - current weight) / well weight x100
Fluid deficit = % dehydration x weight (kg) x 10
How to calculate replacement fluids
Maintenance fluids + fluid deficit
Resuscitation fluid calculation for children AND WHEN TO USE A SMALLER BOLUS
0.9% NaCl 10ml/kg bolus over <10 mins
Use smaller bolus if:
- Neonatal period
- DKA
- Septic chock
- Trauma
- Cardiac pathology
What are the Fraser Guidelines?
Used to assess if a patient who is younger than 16 is competent to consent to treatment, for example contraception
Need to fulfil following:
- Understand the professionals advice
- Cannot be persuaded to inform their parents or allow the professional to contact the parents on their behalf
- They are likely to start or continue having sexual intercourse with or without contraceptives
- Unless they receive contraceptives, their physical or mental health is likely to suffer
- The young persons best interests requires them to receive contraceptive advice or tx without parental consent
What are the types of constipation seen in children?
Idiopathic/functional constipation = no underlying cause
Secondary constipation
causes of secondary constipation in children?
Hirschsprungs Cystic fibrosis Hypothyroidism Spinal cord lesions Sexual abuse Intestinal obstruction Anal stenosis Cows milk intolerance
Symptoms of constipation
Breast fed babies can open their bowels as little as once per week
Less than 3 stools a week
Hard stools that are difficult to pass
Rabbit dropping stools
Straining and painful passages of stools
Abdominal pain
Holding an abnormal posture, referred to as retentive posturing
Rectal bleeding associated with hard stools
Faecal impaction causing overflow soiling, with incontinence of particularly loose smelly stools
Hard stools may be palpable in abdomen
Loss of the sensation of the need to open the bowels
what is encopresis?
Faecal incontinence
Not pathological until 4 yo
Sign of chronic constipation - rectum becomes stretched and loses sensation
Causes of encopresis
Chronic constipation Spina bifida Hirschprung’s disease Cerebral palsy Learning disability Psychosocial stress Abuse
Lifestyle factors that contribute to constipation
Habitually not opening the bowels Low fibre diet Poor fluid intake and dehydration Sedentary lifestyle Psychosocial problems such as a difficult home or school environment (always keep safeguarding in mind)
Red flags in constipation hx that should prompt further ix
Not passing meconium within 48 hours of birth (cystic fibrosis or Hirschsprung’s disease)
Neurological signs or symptoms, particularly in the lower limbs (cerebral palsy or spinal cord lesion)
Vomiting (intestinal obstruction or Hirschsprung’s disease)
Ribbon stool (anal stenosis)
Abnormal anus (anal stenosis, inflammatory bowel disease or sexual abuse)
Abnormal lower back or buttocks (spina bifida, spinal cord lesion or sacral agenesis)
Failure to thrive (coeliac disease, hypothyroidism or safeguarding)
Acute severe abdominal pain and bloating (obstruction or intussusception)
mx of idiopathic constipation
correct reversible factors
high fibre diet
good hydration
start laxatives - movicol
faecal impaction = disimpaction regime with high dose of laxatives at first
praise after visiting toilet, schedule toilet visits, bowel diary and star charts
What is hirschsprung’s disease
a congenital condition where nerve cells of the myenteric plexus (Auerbach’s plexus) are absent in the distant bowel and rectum.
Auerbach’s plexus is responsible for stimulating peristalsis of the large bowel -without it the bowel loses its motility and stops being able to pass food along its length
Pathophysiology of Hirschsprung’s disease
absence of parasympathetic ganglion cells in the Auerbach’s plexus at the distal colon and rectum
What is it called when the entire colon is affected by Hirschsprung’s disease?
Total colonic aganglionosis
The aganglionic section of the colon doesn’t relax = it becomes constricted - loss of movement of faeces and obstruction of bowel
Risk factors for hirschsprungs disease
Family hx downs syndrome Neurofibromatosis Waardenburg syndrome - pale blue eyes, hearing loss, and patches of white skin and hair Multiple endocrine neoplasia type II
Presentation of hirschsprungs disease
acute intestinal obstruction after birth delay in passing meconium (>24 hrs) chronic constipation since birth abdominal pain and distention vomiting poor weight gain and failure to thrive
What is an important complication of hirschsprungs disease?
Hirschsprung associated enterocolitis
What is Hirschsprung associated enterocolitis?
Inflammation and obstruction of the intestine occurring in around 20% of neonates with hirschsprungs disease
presentation of Hirschsprung associated enterocolitis
2-4 weeks old fever abdominal distention diarrhoea (often bloody) features of sepsis can lead to toxic megacolon and perforation of the bowel
tx for Hirschsprung associated enterocolitis
abx
fluid resuscitation
decompression of the obstructed bowel
ix for hirschsprungs disease
abdominal xray - look for intestinal obstruction and HAEC
Rectal biopsy - for diagnosis. Absence of ganglionic cells on histology
Mx of hirschsprungs disease
surgical removal of ganglionic section of bowel
What is croup?
acute infective respiratory disease affecting young children.
URTI causing oedema in the larynx = stridor
What age group is croup most common in?
6 months to 2 years (can be in older children)
Causes of croup
PARAINFLUENZA VIRUS
influenza
adenovirus
respiratory syncytial virus (RSV)
diphtheria - leads to epiglottitis
Presentation of croup
Increased work of breathing “Barking” cough, occurring in clusters of coughing episodes - worse at night Hoarse voice Stridor Low grade fever
Mx of croup
Oral dexamethasone - single dose for all children regardless of severity (can give prednisolone alternatively) Oxygen Nebulised budesonide Nebulised adrenalin Intubation and ventilation
Very responsive to steroids
children can be cared for at home
When is croup most common
more common in autumn
How can croup be classified based on severity?
Mild
Moderate
Severe
What is mild croup?
Occasional barking cough
No audible stridor at rest
No or mild suprasternal +/- intercostal recessions
Child is happy and eating/playing
What is moderate croup?
Frequent barking cough Easily audible stridor at rest suprasternal and sternal wall retraction at rest no or little distress/agitation child can be placated
what is severe croup?
frequent barking cough prominent inspiratory stridor at rest marked sternal wall retractions significant distress and agitation or lethargy tachycardia
When should you admit a child with croup?
if its moderate or severe or: - <6 months old - known upper airway abnormalities - uncertain about diagnosis
ix for croup
clinical diagnosis
CXR - PA view shows steeple sign (subglottilc narrowing) and lateral view shows thumb sign (epiglottis swelling)
signs of croup on CXR
a posterior-anterior view will show subglottic narrowing, commonly called the ‘steeple sign’
a lateral view in acute epiglottis will show swelling of the epiglottis - the ‘thumb sign’
What is DKA?
Diabetic ketoacidosis
Medical emergency
Common way that children with new diagnosis of T1DM present
There is extreme hyperglycaemic ketosis, resulting in metabolic acidosis
Pathogenesis of DKA
1) ketoacidosis - ketogenesis occurs (fatty acids converted to ketones when there’s insufficient glucose & glycogen stores). Kidneys initially produce bicarb to buffer ketone acids, then can’t compensate = ketoacidosis
2) Dehydration - hyperglycaemia overwhelms the kidneys & glucose is filtered into the urine. Glucose draws water out with it = osmotic diuresis = polyuria = dehydration = polydipsia
3) Potassium imbalance = insulin drives K into cells = hyperkalaemia. Total body K is low as no K is stored in cells. When tx with insulin starts = severe hypokalaemia as K is drawn into cells = arrhythmias
Serious complication of DKA in children
cerebral oedema.
Dehydration & hyperglycaemia = water moves from intracellular to extracellular space in the brain so cells are dehydrated and shrink.
When dehydration & hyperglycaemia is corrected rapidly = rapid shift of water intracellularly in the brain = brain cells swell & brain becomes oedematous
Monitor GCS in children with DKA
Signs to monitor for cerebral oedema in DKA
headaches
altered behaviour
bradycardia
changes to consciousness
mx of cerebral oedema in DKA
slow IV fluids
IV mannitol
IV hypertonic saline
Presentation of DKA
Polyuria Polydipsia Nausea and vomiting Weight loss Acetone smell to their breath Dehydration and subsequent hypotension Altered consciousness Symptoms of an underlying trigger (i.e. sepsis)
Diagnosis of DKA
Hyperglycaemia = BM >11 Ketosis = blood ketones >3 Acidosis = ph <7.3
DKA management in children
- Correct dehydration over 48 hrs
- Fixed rate insulin infusion
- Avoid fluid boluses
- Treat underlying triggers
- Prevent hypoglycaemia with IV dextrose once BM <14
- K to IV fluids and monitor serum K
- Monitor for signs of cerebral oedema
- Monitor glucose, ketones and pH
What is T1DM?
a disease where the pancreas stops being able to produce insulin. What causes the pancreas to stop producing insulin is unclear.
When the pancreas is not producing insulin, the cells of the body cannot take glucose from the blood and use it for fuel. The cells cannot use glucose, so the level of glucose in the blood keeps rising, causing hyperglycaemia.
What is the normal range for BMs
4.4 to 6.1
Presentation of T1DM
25-50% of new T1DM children present in DKA
Polyuria
Polydipsia
Weight loss
Secondary enuresis
Recurrent infections
Ix for new presentation of T1DM
FBC U&E Lab glucose Blood cultures HbA1C TFTs Thyroid peroxidase antibodies (TPO for autoimmune thyroid disease) anti-TTG (coeliacs) Insulin antibodies, anti-GAD antibodies and islet cell antibodies (antibodies associated with T1DM)
Mx of T1DM in children
- Patient and family education
- Subcut insulin regime
- Monitor dietary carbohydrate intake
- Monitor BMs - waking, at each meal and before bed
- Monitoring and mx for complications
short term complications of T1DM
Hypoglycaemia
Hyperglycaemia and DKA
Causes of hypoglycaemia in T1DM
Too much insulin Not enough carbs Malabsorption Diarrhoea vomiting sepsis
Symptoms of hypoglycaemia in T1DM
Hunger tremor sweating irritability dizziness pallor reduced consciousness coma death
mx of hypoglycaemia in T1DM
rapid acting glucose - lucozade
slower acting carb - biscuit or toast
IV 10% dextrose
IM glucagon
Long term complications of T1DM
Macrovascular complications:
- CAD
- Stroke
- HTN
Microvascular complications
- Peripheral neuropathy
- Retinopathy
- Glomerulosclerosis
Infection related complications
- UTI
- Pneumonia
- Skin and soft tissue infections particularly in feet
- Cadidiasis
Monitoring of T1DM
HbA1C
Capillary blood glucose
Flash glucose monitoring (5 minute lag behind BM)
What is disseminated intravascular coagulation?
an acquired syndrome characterised by activation of coagulation pathways, resulting in formation of intravascular thrombi and depletion of platelets and coagulation factors
Tendency for both bleeding and thrombosis simultaneously
Triggers for DIC
- Infection (sepsis)
- Malignancy
- Severe burns
- Trauma
- Shock
- Obstetric emergencies
- Acute haemolytic transfusion reaction
Pathophysiology of DIC
Activation of the coagulation cascade intravascularly
Causes microvascular thrombosis
Small thrombi can lead to multi-organ failure
At the same time, widespread activation of coagulation leads to reduction in the concentration of circulating coagulation factors = consumptive coagulopathy = risk of bleeding increases = thrombocytopenia
Simultaneous bleeding and thrombosis
Clinical features of DIC
- Evidence of precipitating factor
- bleeding from unusual sites: ears, nose, GI, GU, Respiratory, venipuncture site (bleeding from 3 unrelated sites = highly suggestive)
- Widespread unexpected bruising
- new confusion or disorientation
- petechiae or purpura
- Lived reticularis - mottled lace like patterning of the skin
- Purpura fulminans: widespread skin necrosis
- Localised infarction and gangrene (e.g. of fingers)
- Oliguria, hypotension or tachycardia
Ix for DIC
ISTH scoring system
- platelet count low
- d dimer. raised
- PTT prolonged
- fibrinogen levels decreased
mx of DIC
treat underlying cause
platelet transfusion if bleeding
concentrated solutions of clotting factors
cryoprecipitate or fibrinogen concentrate for low fibrinogen
If thrombosis is prominent factor - LMWH - unfractionated heparin has shorter 1/2 life so good for this
complications of DIC
multi organ failure life threatening haemorrhage cardiac tamponade (becks triad) Haemothorax Intracranial haemorrhage Gangrene and loss of digits
What is the genetic abnormality in downs syndrome?
3 copies of chromosome 21 = trisomy 21
What dysmorphic features are seen in downs syndrome?
Hypotonia (reduced muscle tone) Brachycephaly (small head with a flat back) Short neck Short stature Flattened face and nose Prominent epicanthic folds Upward sloping palpebral fissures (gap between upper and lower eyelid) Single palmar crease
complications of downs syndrome
Learning disability
Recurrent otitis media
Deafness. Eustachian tube abnormalities lead to glue ear and conductive hearing loss.
Visual problems such myopia, strabismus and cataracts
Hypothyroidism occurs in 10 – 20%
Cardiac defects affect 1 in 3, particularly ASD, VSD, patent ductus arteriosus and tetralogy of Fallot
Atlantoaxial instability
Leukaemia is more common in children with Down’s
Dementia is more common in adults with Down’s
Duodenal atresia
sub fertility
When is antenatal screening done for downs syndrome?
offered to all women - they can refuse
combined test is done between 11 and 14 weeks
triple test/quadruple test (just maternal blood tests) done between 14 and 20 weeks
What is involved in the combined screening test for downs syndrome?
USS - measure nuchal translucency (>6mm = downs)
Maternal blood tests - beta-HCG increased and pregnancy associated plasma protein A (PAPPA) is low
+ mothers age
Done at 11-14 weeks
What is involved in the triple test for downs syndrome screening?
b-HCG (increased)
Alpha-fetoprotein (AFP) (low)
Serum estriol (low)
Done at 14-20 weeks
What is involved in the quadruple test for downs syndrome screening?
b-HCG (increased)
Alpha-fetoprotein (AFP) (low)
Serum estriol (low)
inhibin A (high)
Done at 14-20 weeks
When are women offered antenatal testing for downs syndrome?
If the risk of Downs syndrome is greater than 1 in 150, calculated by screening tests
How is antenatal testing for downs syndrome done?
Chorionic villus sampling - US guided biopsy of placental tissue (before 15 weeks)
Amniocentesis - US guided aspiration of amniotic fluid using a needle (done later in pregnancy)
non-invasive prenatal testing (NIPT) - maternal blood test to detect fetal DNA
Risks of amniocentesis
miscarriage - 1 in 200 women
infection in uterus
cramping, spotting or leaking amniotic fluid
rh problems
mx of downs syndrome
MDT management
Regular thyroid checks (2 yearly)
Echocardiogram to diagnose cardiac defects
Regular audiometry for hearing impairment
Regular eye checks
prognosis of downs syndrome
Prognosis varies depending on the severity of the associate complications. The average life expectancy is 60 years.
risks of chorionic villus sampling
cramping, bleeding or leaking of amniotic fluid
infection
miscarriage
preterm labour
limb defects in infants - if done before 9 weeks
PAPP-A in downs compared to Edwards and patau
PAPP-A is lower in Edwards and patau
PAPP-A = pregnancy associated plasma protein A
Risk factors for eating disorders
Associated with - personality disorders, OCD and anxiety
Female
Genetic component
What is anorexia nervosa?
the person feel they are overweight despite evidence of normal or low body weight. It involves obsessively restricting calorie intake with the intention of losing weight. Often the person exercises excessively and may use diet pills or laxatives to restrict absorption of food.
Symptoms of anorexia nervosa
Excessive weight loss Amenorrhoea Lanugo hair is fine, soft hair across most of the body Hypokalaemia Hypotension Hypothermia Changes in mood, anxiety and depression Solitude
Cardiac complications associated with anorexia nervosa
Arrhythmias
Cardiac atrophy
Sudden cardiac death
What is bulimia nervosa?
Unlike with anorexia, people with bulimia often have a normal body weight. Their body weight tends to fluctuate. The condition involves binge eating, followed by “purging” by inducing vomiting or taking laxatives to prevent the calories being absorbed.
Symptoms of bulimia nervosa
Alkalosis, due to vomiting hydrochloric acid from the stomach
Hypokalaemia
Erosion of teeth
Swollen salivary glands
Mouth ulcers
Gastro-oesophageal reflux and irritation
Calluses on the knuckles where they have been scraped across the teeth = Russell’s sign.
What is binge eating disorder
Binge eating disorder is characterised by episodes where the person excessively overeats, often as an expression of underlying psychological distress. This is not a restrictive condition like anorexia or bulimia, and patients are likely to be overweight.
Symptoms of binge eating disorder
A planned binge involving “binge foods” Eating very quickly Unrelated to whether they are hungry or not Becoming uncomfortably full Eating in a “dazed state”
Mx of eating disorders
Self help resources Counselling CBT Admission in severe cases for observed refeeding and monitoring of refeeding syndrome SSRI
What are the 3 electrolyte disturbances seen in refeeding syndrome?
Hypomagnesaemia
Hypokalaemia
Hypophosphataemia
What is refeeding syndrome?
occurs in people that have been in a severe nutritional deficit for an extended period, when they start to eat again.
who is at risk of refeeding syndrome?
BMI <20
Little to eat for past 5 days
Long period of malnutrition
What are the complications of refeeding syndrome?
Cardiac arrhythmias
HF
Fluid overload
Pathology behind refeeding syndrome
Metabolism in cells/organs slows dramatically while malnourished
When food is introduced again, cells start to process glucose, protein and fats = uses up magnesium, potassium and phosphorus
Mx for refeeding syndrome
Slowly reintroduce food with restricted calories
Monitor magnesium, potassium and phosphate
Monitor glucose
Fluid balance monitoring
ECG monitoring
Supplementation with electrolytes, vitamins (especially B12 and thiamine)
what is epiglottitis?
Epiglottitis is inflammation and swelling of the epiglottis
haemophilus influenza type B
Can completely block airway in hours = life threatening emergency
who should you suspect epiglottitis in?
children who haven’t had their vaccines
presentation of epiglottitis
Patient presenting with a sore throat and stridor Drooling Tripod position, sat forward with a hand on each knee High fever Difficulty or painful swallowing Muffled voice Scared and quiet child Septic and unwell appearance
