Paediatrics Flashcards
FDefine DDH
Structural abnormality in the hips leading to instability and potential for subluxation or dislocation
What are the 4 RF for DDH
-First degree Fx
-Female
-Breech presentation
-High birth weight
-Oligohydramnios
-Prematurity
When is DDH screened for ?
-Neonatal examination at birth and at 6-8 weeks
What findings on a NIPE may suggest DDH?
-Different leg lengths
-Restricted hip abduction on one side
-Significant bilateral restriction in abduction
-Difference in the knee level when hips are flexed
-Clunking of the hips on special tests
What are the 2 special tests to look for DDH?
-Ortolani test
-Barlow test
What is the ortolani test ?
-Looks for DDH
-With the hips and knees flexed, gentle pressure is used to abduct the hips and apply pressure behind the legs to see if the hips will dislocate anteriorly
What is the barlow test ?
-Looks for DDH
-Gentle downward pressure is placed on the knees through the femur to see if the femoral head with dislocate posteriorly.
What is the diagnostic test for DDH?
-USS
How is DDH managed if presents at <6 mnths ?
-Pavlik harness
-Keeps the baby’s hips flexed and abducted.
-Usually on for 6-8 weeks.
How is DDH managed if presents >6 mnths or if harness fails?
-Surgery
-After surgery an hip spica cast is used to immobilise the hips
Define osteogenesis imperfecta
-Genetic condition resulting in brittle bones that are prone to fracture
What causes osteogensis imperfecta ?
-Genetic mutations that affect the formation of collagen
-8 different genetic abnormalities with varying severities
How does osteogenesis imperfecta present ?
-Recurrent and inappropriate fractures
-Hyper-mobility
-Blue/grey sclera
-Triangular face
-Short stature
-Deafness from early childhood
-Dental problems
-Bone deformities : esp bowed legs and scoliosis
-Joint and bone pain
How is osteogenesis imperfecta diagnosed ?
-Usually clinical
-X-ray used in fractures and for bone deformitis
How is osteogenesis imperfecta managed ?
-Bisphosphonates to increased bone density (e.g. alendronate)
-Vit D supplementation to prevent deficiency
-Physio and occupational therapy
Define rickets
-Defective bone mineralisation causing ‘soft’ and deformed bones
What 2 vitamin deficiencies cause rickets ?
-Vitamin D
-Calcium
What are the sources of vitamin D?
-Sunlight
-Eggs, oily fish or forified cereals
What are the sources of calcium ?
-Dairy productes
-Green vegetables
What is a rare form of rickets?
-Hereditary hypophosphataemic rickets
-Genetic defect causing low phosphate
-Most common : X-linked dominant
What are the potential symptoms of rickets ?
-Lethargy
-Bone pain
-Swollen wrists ! widening of joint space
-Bone deformity
-Poor growth
-Dental problems ! no teeth development
-Muscle weakness
-Pathological or abnormal fractures
What 5 bone deformities can occur in rickets?
-Bowing of the legs
-Knock knees
-Rachitic rosary : ribs expand at the costochondral junctions causing lumps along the chest
-Craniotabes : soft skull with delayed closure of sutures and frontal bossing
-Delayed teeth
What are the RF for rickets ?
Anything that increases the risk of vit d deficiency
-Darker skin
-Low exposure to sunlight
-Live in colder climates
-Spend majority of their time indoors
What are the 5 common blood results in rickets ?
-Serum 25-hydroxyvitamin D of less than 25 nmol/L
-Calcium : low
-Phosphate : low
-Alkaline phosphatase : high
-Parathyroid hormone : high
What investigation is required to diagnose rickets ?
-X ray
-May show joint widening and osteopenia (more radiolucent bones)
How is rickets prevented ?
-Breastfeeding women should taken vitamin D supplements (10 micrograms per day)
-Formula fed babies are at lower risk as it is fortified with vitamin D
How is rickets managed ?
-Vitamin D (ergocalciferol) : 6mnths to 12 yrs is 6,000 IU per day for 8-12 wks
-Calcium supplementation
Explain the pathophysiology behind rickets
-Low vitamin D
-This leads to malabsorption of calcium and phosphate
-Low calcium and phosphate leads to defective bone mineralisation
-Low calcium leads to secondary hyperparathyroidism
-Increased parathyroid hormone leads to increased calcium reabsorption from bone and further issues with bone mineralisation
What is transient synovitis ?
-Temporary irritation and inflammation in the synovial membrane of the joint
What age group is transient synovitis most common in ?
3-10 years
How does transient synovitis present ?
-Usually occurs within a few weeks of a viral illness
-Limp
-Refusal to weight bear
-Groin or hip pain
-Mild low grade temperature
What is a serious differential in a child with joint pain and fever ?
-Septic arthritis
How is transient synovitis managed ?
-Simple analgesia
-Safety net to attend A&E if symptoms worsen or they develop a fever !
What are the symptoms of an appendicitis ?
-Umbilical pain that spreads to the RIF
-Anorexia
-N&V
What are the signs of an appendicitis ?
->Tenderness and guarding over McBurney’s point
-> Rovsing’s sign : palpation in LIF causes pain in the RIF
-> Fever
-> Abdo pain aggravated my movement
Give 2 signs of peritonitis
-Rebound tenderness : increased pain following quick release of pressure of RIF
-Percussion tenderness
Give 3 complications of an appendicitis
- Rupture -> peritonitis
- Abscess
-Appendix mass
Define biliary atresia
-Congenital condition where a section of the bile duct is either narrowed or absent
-This leads to cholestasis, where bile cannot be transported from the liver to the bowel
How does biliary atresia present
-> Persistent jaundice shortly after birth
-> Occurs due to high levels of conjugated bilirubin
Define prolonged jaundice in term and premature babies
-> Term : 14 days
-> Premature : 21 days
What investigations are used in biliary atresia ?
-> levels of conjugated and unconjugated bilirubin.
-> There will be a high proportion of conjugated bilirubin (the liver can process it but not excrete it)
How is biliary atresia managed?
-> Kasai portoenterostomy : attaching a section of the small intestine to the opening of the liver where the bile duct normally attaches.
-> Often require a liver transplant in later life
Explain the pathophysiology behind coeliac disease
-Gliadin in gluten provokes a damaging immunological response in the proximal small intestinal mucosa
-> Anti-TTG and anti-EMA antibodies target epithelial cells and cause inflammation
How does coeliac disease present ?
-Failure to thrive
-Diarrhoea
-Fatigue
-Weight loss
-Mouth ulcers
-Iron an/or folate deficiency anaemia
-Growth failure
-Dermatitis herpetiformis
What bloods are done in coeliac disease ?
-First check IgA levels to exclude IgA deficiency
-Raised anti-TTG
-Raised anti-EMA
What is seen on an endoscopy + biopsy in coeliac disease ?
-Jejunum is most affected
-Crypt hypertrophy
-Villous atrophy
-Increased intraepithelial lymphocytes
Define crohns disease
-Transmural granulomatous chronic inflammation of the GI tract
How does crohns disease present ?
-Abdo pain, diarrhoea, weight loss
-Growth failure due to malabsorption
-Delayed puberty
What are the extraintestinal symptoms of crohns?
-Oral lesions or perianal skin tags
-Uveitis
-Arthralgia
-Erythema nodosum
What bloods are seen in crohns ?
-Raised faecal calprotectin
-Raised plts, ESR and CRP
-IDA due to malabsorption
-low serum albumin
What is seen on endoscopy + biopsy in crohns
-Skip lesions
-Non-caseating granulomas
-Transmural damage, terminal ileum most severe
How is remission induced in crohns ?
-Nutritional therapy for 6-8 wks
-Systemic steroids if necessary (oral pred, IV hydrocortisone)
How is remission maintained/relapse treated in crohns?
-Immunosuppressant medication : azathioprine, mercaptpurine, methotrexate
-Infliximab, adalimumab if necessary
Give 3 complications of crohns
-Bowel strictures leading to obstruction
-Fistulae
-Abscess formation
What causes GORD ?
-Inappropriate relaxation of the lower oesophageal sphincter due to functional immaturity
-Most spontanesouly resolves by 12mnths of age and put on weight normally despite symptoms
Give 4 serious causes of GORD
-Cerebral palsy
-Other neurodevelopmental disorders
-Preterm infants
-Following surgery for oesopheal atresia or diaphragmatic hernia
What investigations are done for GORD ?
-Usually clinic
-24hr oesophageal pH monitoring to assess degree of acid reflux
-Endoscopy with oesophageal biopsy
How is uncomplicated GORD managed ?
-Inert thickening agents to feeds and position upright after meals
How is more severe GORD managed?
-Acid suppression with ranitidine or PPI
-Severe : surgical fundoplication
Give 4 complications of GORD
-Failure to thrive in severe vomiting
-Oesophagitis
-Recurrent pulmonary aspiration
-Sandifer’s syndrome
What is sandifer’s syndrome ?
-Rare condition causing brief episodes of abnormal movements assocaited with GORD in infants
Give 2 characteristics of sandifer’s syndrome
-Torticollis : forceful contraction of the neck muscles
-Dystonia
Define Hirschsprung disease
-Congenital condition where the nerve cells in the myenteric plexus are absent (aganglionic) in the rectum and variable distance of the colon
Explain the pathophysiology behind Hirschsprung disease
-The aganglionic section of the colon cannot relax and so becomes constricted and leads to obstruction of the bowel
-Proximal to the obstruction, the bowel becomes distended and full
Give 4 presenting signs of Hirschsprung
-Failure to pass meconium in the first 24 hrs of life
-Abdominal distention
-Later : bile-stained vomit
-If presentation is later in life : profound chronic constipation, abdo distention and growth failure
How is Hirschsprung diagnosed ?
-Suction rectal biopsy
How is Hirschsprung managed ?
-Initially : rectal washouts/irrigation to prevent enterocolitis
-Surgically : initial colostomy with removal of the aganglionic section, followed by anastomosing normally innervated bowel the the anus
What is a severe complication of Hirschsprung disease ?
-Hirschsprung-Associated Enterocolitis (HAEC)
What can cause HAEC and how does it present ?
-C.diff
-Fever, abdo distention, diarrhoea (often bloody) and features of sepsis
How is HAEC managed ?
-IV antibiotics
-Fluid resus
-Decompression of obstructed bowel
Define ulcerative colitis
-Recurrent, inflammatory and ulcerating disease involving the mucosa of the colon
How does UC present ?
-Rectal bleeding, diarrhoea and colicky abdo pain
-Weight loss
-Growth failure
Give 3 extraintestinal signs of UC
-Arthritis
-Erythema nodosum
-Primary sclerosing cholangitis
Give 3 signs of UC on endoscopy + biopsy
-Continuous inflammation
-Begins in the rectum and travels proximally
-Possible crypt abscesses
How is remission induced in UC ?
-Mild : aminosalicylates (e.g. mesalazine) or corticosteroids
-More severe : IV corticosteroids or IV ciclosporin
How is remission maintained in UC
-Aminosalicylate
-Azathioprine
-Mercaptopurine
What is a complication of UC ?
-Increased risk of adenocarcinoma of the colon in adulthood
What is malrotation ?
-Malrotation of the small bowel during foetal life
How does malrotation present ?
-Bilious vomiting in the first few days of life
-can lead to volvus formation leading to an obstruction and ischaemic bowel
-Abdo pain and tenderness from peritonitis or ischaemic bowel
-Associated with exomphalos & hernia
How is malrotation diagnosed ?
-Abdo USS : whirlpool sign
How is malrotation managed ?
-Surgery to untwist the bowel
What is intussusception and when does it occur?
-Invagination of proximal bowel into a distal segment
-Usually occurs between 3mnths and 2 yrs of age
How does intussusception present
-Paroxysmal, severe colciky pain and pallor causing a child to draw their legs up
-Redcurrant jelly stool
-Palpable sausage shaped mass in the abdomen
-May refuse feeds
-Vomit
-Abdo distention and shock
What are the associated symptoms of intussusception ?
-Concurrent viral illness, usually URTI preceding
-Meckel diverticulum
What is Meckels diverticulum and how does it present ?
-Ileal remnant of the vitello-intestinal duct
-Presents with severe rectal bleeding
-Diverticulitis micking appendicitis
-Treated with surgical resection
How is intussusception diagnosed ?
-USS : target sign
-Contrast enema
How is intussusception managed ?
-Rectal air insufflation
-Fluid resus
-Surgery if reduction of air is ineffective
How is intussusception managed if there are signs of peritonitis ?
-Therapeutic enemas
-Surgery
Give 5 complications of intussusception
-Obstruction
-Shock
-Gangernous bowel
-Perforation
-Death
What is pyloric stenosis ?
-Hypertrophy of the pyloric muscle leading to narrowing and oulet obstruction
Give 4 clinical features of pyloric stenosis
-Projectile vomit
-Hunger after vomiting
-Possible dehydration
-Weight loss in delayed presentation
What would a blood gas show in pyloric stenosis ?
Hypochloric metabolic alkalosis with low plasma sodium and potassium due to vomiting stomach contents
When is pyloric stenosis more common ?
-2-7 wks od age
-Boys > girls
-Maternal fx
What can be seen on abdo exam in pyloric stenosis ?
-Pyloric mass in RUQ (olive like )
-Gastric peristalsis seen as a wave moving from left to right across the abdomen
How is pyloric stenosis diagnosed ?
-Test feed
-USS
How is pyloric stenosis managed ?
-Ramstedt’s pyloromyotomy
-Correct fluid and electrolyte disturbance with IV fluids
Define septic arthritis
-Infection inside a joint
when is septic arthritis most common ?
<4 yrs of age
How does septic arthritis usually present ?
-Single joint
-Rapid onset : hot red swollen painful joint
-Refusing to weight bear
-Stiffness and reduced range of motion
-Systemic Sx : fever, lethargy, sepsis
What is the most common bacterial cause of septic arthritis ?
-Staph aureus
What 4 other bacteria can cause septic arthritis ?
-Neisseria gonorrhoea (sexually active teenagers)
-Group A strep
-Haemophilus influenza
-E.coli
Give 4 other differential diagnosis for septic arthritis
-Transient synovitis
-Perthes
-Slipped upper femoral epiphysis
-JIA
How is septic arthritis managed ?
-Joint aspiration for gram staining, crystal microscopy, culture and Abx sensitivities.
-Empirical IV abx
-Sugical drainage and washout where necessary
What is perthes disease?
-Idiopathic, avascular necrosis of the femoral head due to disruption of blood flow
-Affecting the epiphysis of the femur
At what age does perthes most commonly occur?
-Boys aged 5-8
-Can occur between 4-12 yrs
How does perthes disease present?
-Slow onset of : pain in the hip or groin, limp, restricted hip movements and possible referred pain to knee
How is perthes diagnosed ?
-X ray is investigation of choice but can sometimes be normal.
-Bloods to exclude inflammatory causes
-Technetium bone scan
-MRI
How is perthes managed ?
-Less severe : conservative management with bed rest, traction, crutches and analgesia
-Physio
-Regular X-rays
-Surgery in severe cases to improve alignment and functional of the femoral head and hip
What is the main complication of perthes?
-Soft and deformed femoral head leading to early hip osteoarthritis
-this is due to the revascularisation and neovascularisation that occurs over time
What is a slipped upper femoral epiphysis (SUFE) ?
-Where the head of the femur is displaced along the growth plate
Who is SUFE more likely to occur in ?
-Boys (8-15 with an average age of 12)
-Obese children
What is the typical exam q for SUFE?
-Usually in an adolescent obese male going through a growth spurt
-Hx of mild trauma causing symptom onset -> pain is usually disproportionate to the trauma
How does SUFE present ?
-Hip, groin, thigh or knee pain
-Restricted range of hip movement
-Painful limp
-Restricted movement in the hip : particularly restricted internal rotation
On examination, what movement will be restricted in SUFE?
-> Internal rotation
-> They will prefer external rotation
How is SUFE diagnosed ?
X-ray !
Plain X-ray of BOTH hips (AP and frog-leg views)
Both hips as its bilateral in 20% of cases
How is SUFE managed ?
-Surgery
What is osteomyelitis ?
-Infection in the bone and bone marrow, typically in the metaphysis of long bone
What bacteria is the most common cause of osteomyelitis ?
-Staph aureus
Give 5 risk factors for osteomyelitis
-Male
-<10 yrs
-Open bone fracture
-Orthopaedic surgery
-Sickle cell anaemia : salmonella
What is chronic osteomyelitis ?
-Deep seated, slow growing infection with more subtle features
How with acute osteomyelitis present ?
-Fever
-Refusing to use the limb or weight bear
-Pain
-Swelling
-Tenderness
How is osteomyelitis investigated ?
-Xrays but MRI best for diagnosis
-Raised CRP, ESR and white cells
-Blood culture to determine organism
-Bone marrow aspiration or bone biopsy if necessary
How is osteomyelitis managed ?
-Antibiotics
-May require drainage and debridement
What is an osteosarcoma and where does it most commonly affect ?
-Bone cancer
-Femur = most common
-Tibia and humerus also commonly affected
What age group are usually affected with osteosarcomas ?
10-20 yrs
How does an osteosarcoma present ?
-Persistent bone pain
-Bone pain worse at night and may wake from sleep
-Bone swelling
-Palpable mass
-Restricted joint movement
How is an osteosarcoma diagnosed ?
-Urgent direct access xray within 48 hrs
What would an xray show in an osteosarcoma ?
-Poorly defined lesion in the bone with destruction of the normal bone and a ‘fluffy’ appearance
-Periosteal reaction = ‘sun-burst’ appearance due to irritation of the lining of the bone.
What may be raised in blood tests in an osteosarcoma ?
-Raised alkaline phosphatase (ALP)
What is the main complication of an osteosarcoma ?
-Pathological bone fractures and metastasis
-Surgical resection also often leads to limb amputation
What is Talipes ?
-Clubfoot
-Fixed abnormal ankle position presenting at birth
What is talipes equinovarus ?
-Ankle in plantar flexion and supination
What is talipes calcaneovalgus ?
-Ankle in dorsifelxion and pronation
How is clubfoot managed ?
-Ponseti method
What is the ponseti method ?
-Used to treat club foot
-The foot is manipulated towards a normal position and a cast used to hold it in position. This is repeated until the foot is in the correct position
-A brace is then used to hold the feet in the correct position when not walking until around 4 yrs of age
What is positional talipes ?
-The ankle is in a plantar flexion and supination position but is not fixed
-The muscles around the ankle are tight but the boney structure is not affected
-Managed using physio
What is achondroplasia ?
-Most common common cause of disproportionate short stature (dwarfism)
-It is a type of skeletal dysplasia
What is the cause of achondroplasia?
-Genetic mutations in the FGFR3 gene (fibroblast growth factor receptor 3) on chromosome 4 leading to abnormal function of the epiphyseal plates.
What kind of genetic inheritance leads to achondroplasia ?
-Autosommal dominant -> heterozygous
-> Homozygous gene mutations are fatal in the neonatal period
What are the main features of achondroplasia ?
-Average height of 4 feet
-Short digits
-Bow legs
-Disproportionate skull
-Foramen magnum stenosis
-Frontal bossing
Give 6 associations with achondroplasia
-Recurrent otitis media
-Kyphoscoliosis
-Spinal stenosis
-Obstructive sleep apnoea
-Obesity
-Cervical cord compression and hydrocephalus as a result of foramen magnum stenosis
What is osgood-schlatters disease?
Inflammation at the tibial tuberosity where the patella ligament inserts leading to anterior knee pain in adolescents
When does osgood-schlatters typically occur?
-10 to 15 yrs old
-More common in males
How does osgood-schlatters present ?
Gradual onset :
-Pain at the anterior aspect of the knee
-Pain exacerbated by physical activity, kneeling and extension of the knee
-Visible or palpable heard and tender lump at the tibial tuberosity
How is Osgood-Schlatters managed ?
-Reduction in physical activity
-Ice
-NSAIDs
-Once symptoms have settled : stretching and physio
What is a rare complication of Osgood-Schlatters?
-Full avulsion fracture where the tibial tuberosity is separated from the rest of the tibia
Explain the pathophysiology behind Osgood-Schlatters
-Stress from running, jumping etc + growth in the epiphyseal plate results in inflammation on the tibial epiphyseal plate
-Multiple small avulsion fractures occur, where the patella ligament pulls away tiny pieces of bone
-This leads to growth of the tibial tuberosity = visible lump
-This lump is tender due to inflammation but as the bone heals it becomes hard and non-tender
What is kawasaki disease ?
Systemic medium-sized vessel vasculitis
Who does kawasaki disease typically affect?
-Children <5 yrs
-Asian children (japanese or korean)
-Boys
What is a key complication of kawasaki disease ?
-Coronary artery aneurysm
What are the key features of kawasaki disease ?
CRASH AND BURN
-C : conjunctivitis (bilateral)
-R : rash (widespread erythematous maculopapular)
-A : adenopathy (cervical & usually unilateral)
-S : strawberry tongue and cracked lips
-H : hands (desquamation)
-BURN : high fever >5 days
Give 3 investigation results usually seen in kawasaki disease
-FBC : anaemia, leukocytosis and thrombocytosis
-LFTS : hypoalbuminaemia and elevated liver enzymes
-Raised ESR
How is kawasaki disease managed ?
-High dose aspirin
-IV immunoglobulins
-Echo
What is a risk of using aspirin in children ?
-Reye’s syndrome
Give 4 symptoms of pneumonia ?
-Cough (wet and productive)
-High fever (>38.5)
-Lethargy
-Delirium
Give 5 signs of pneumonia
-Tachypnoea
-Tachycardia
-Increased work of breathing
-Hypoxia
-Hypotension
Give 3 investigations for pneumonia
-Sputum cultures and throat swabs for bacterial cultures and viral PCR
-Blood culture
-CXR : consolidation
Give 3 chest signs of pneumonia
-Bronchial breath sounds
-Focal coarse crackles
-Dullness to percussion
Give 6 bacterial causes of pneumonia
-Strep pneumonia -> most common
-Group A strep
-GBS -> newborn
-Staph aureus
-Haemophilus influenzae
-Mycoplasma pneumonia
Give 3 viral causes of pneumonia
-RSV -> most common
-Parainfluenza virus
-Influenzavirus
What is the management for mild pneumonia ?
-Oral amoxicillin
What is the management for severe pneumonia?
-Iv benzylpenicillin
Define croup
-Acute, infective, URTI causing oedema of the larynx
What age group does croup typically affect?
-6mnths to 6 yrs
What is the most common cause of croup?
-Parainfluenzae
Give 5 symptoms of croup
-Barking cough occurring in clusters of coughing episodes
-Increased ‘work of breathing’
-Hoarse voice
-Preceding low grade fever and coryzal Sx
What is a common sign of croup ?
-Stridor
How is croup managed ?
-If not supportive -> Stepwise :
-Oral dexamethasone (single dose of 150mcg/kg), can be repeated after 12 hrs
-Oxygen
-Nebulised budesonide
-Nebulised adrenaline
-Intubation and ventilation
Explain the different age groups affected by bronchiolitis, viral induced wheeze and asthma
-> Bronchiolitis : 6mns usually (less than <1 yr)
-> Viral induced wheeze : <3 years
-> Asthma : >3 years
Define bronchiolitis
-> Inflammation and infection in the bronchioles, more common in winter
What is the most common viral cause of bronchiolitis ?
-RSV -> respiratory syncytial virus
What can be given to high risk babies to protect against bronchiolitis
-Palivizumab -> monoclonal antibody targeting RSV.
-Given as a monthly IM injection
How does bronchiolitis present ?
-Wheeze and crackles
-Coryzal symptoms
-Tachypnoea
-Dyspnoea
-Dry cough
-Poor feeding
-Mild fever
-Apnoeas
-Signs of respiratory distress
Give 8 signs of respiratory distress
-Raised resp rate
-Use of accessory muscles : sternocleidomastoid, abdominal and intercostal muscles
-Nasal flaring
-Heading bobbing
-Tracheal tug
-Cyanosis
-Abnormal airway noises
Give 2 investigations for bronchiolitis
-PCR analysis of nasopharyngeal secretions
-CXR : rarely used -> hyperinflation of the lungs
what would suggest a diagnosis of pneumonia over bronchiolitis ?
-High fever (>39 degrees)
-Persistently focal crackles
What babies would be classed as high risk and qualify for palivizumab IM injection
-Premature
-congenital heart disease
-CF
-Immunocomprimised
What 6 factors would suggest admission to hospital for bronchiolitis ?
-Oxygen at 92% or below
-RR >70
-Moderate to severe resp distress
-50-75% less of nomral milk intake
-Apnoea
-Clinical dehydration
How is bronchiolitis managed in hospital ?
Supportive : fluids, supplementary oxygen if below 92%, saline nasal drops or nasal suctioning and ventilatory support if needed
What is the stepwise approach to ventilation support in bronchiolitis ?
- High-flow humidified oxygen via tight nasal cannula
- Continuous positive airway pressure
- Intubation and ventilation
What 3 factors suggest viral induced wheeze over asthma?
<3 yrs
-No atopic history
-Only occurs following a viral infection
What is the presentation of a viral induced wheeze?
-Evidence of a viral illness (fever, cough and coryzal symptoms) before onset of :
-SOB
-Expiratory wheeze throughout the chest
-Signs of respiratory distress
What is cystic fibrosis ?
-Autosomal recessive condition affecting the mucus glands
what is the most common mutation in CF?
-Delta-F508
-It is a mutation of the CF transmembrane conductance regulatory gene
How is CF diagnosed ?
-Screened for at birth with the newborn bloodspot test
What is an early sign of CF
-Meconium ileus : the stool is thick and sticky and so gets stuck in the bowel causing obstruction
-If not diagnosed shortly after birth -> recurrent LRTI, failure to thrive or pancreatitis
Give 6 symptoms of CF
-Chronic cough
-Thick sputum production
-Recurrent resp tract infections
-Steatorrhoea
-Abdo pain and bloating
-Salty taste to child
-Failure to thrive
Give 5 signs of CF
-Low weight or height on growth charts
-Nasal polyps
-Finger clubbing
-Crackles and wheeze on auscultation
-Abdo distention
What is the gold standard test for CF?
-Sweat test
-Pilocarpine is applied to a patch on the skin, electrodes are placed either side and a small current passed between the electrodes.
-The sweat is absorbed and tested for chloride concentration
What chloride concentration is diagnostic for CF on a sweat test
> 60mmol/L
What are 2 common microbial colonisers in people with CF?
-Staph aureus : long term prophylactic flucloxacillin taken
-Psuedomonas aeruginosa : treated with nebulised tobramycin
What is epiglottitis ?
-Inflammation and swelling of the epiglottis caused by infection
What is the cause of epiglottitis ?
-Haemophilus influenzae type B
Give 5 presenting symptoms of epiglottitis
Rapid onset :
-High fever
-Sore throat
-Drooling
-Difficulty or painful swallowing
-Muffled voice
Give 4 signs of epiglottitis
-Tripod position
-Scared and quiet child
-Septic and unwell appearance
-Stridor
How is epiglottitis diagnosed?
-Lateral X-ray of the neck -> ‘thumb’ or ‘thumbprint’ sign
-However if child is acutely unwell, don’t waste time with Ix
How is epiglottitis managed ?
1) Keep airway secure : don’t distress the child
2) IV ceftriaxone and steroids
What is a complication of epiglottitis ?
-Epiglottic abscess
Where does foetal blood get oxygen and nutrients and dispose of CO2 an lactate?
-The placenta
What is the ductus arteriosus?
-Patent shunt in foetal circulation that allows blood to pass from the pulmonary artery to the aorta, bypassing pulmonary circulation
what is the patent foramen ovale?
-Foetal shunt that allows blood to pass from the right to the left atrium allowing blood to bypass the right ventricle and pulmonary circulation
What is the ductus venosus ?
-Foetal shunt that allows blood to pass from the umbilical vein the to inferior vena cava and bypass the liver
What happens to the patent foramen ovale at birth ?
-When the baby takes its first breath, the alveoli expand decreasing pulmonary vascular resistance
-This causes the pressure in the right atrium to fall
-As left atrial pressure is then greater than right atrial pressure, it squashes the atrial septum closing the foramen ovale
When closed, what is the foramen ovale known as?
-Fossa ovalis
What happens to the ductus arteriosus at birth ?
-The increased blood oxygenation causes a drop in prostaglandins
-As prostaglandins are required to keep it open, it causes it to close
What is the ductus arteriosus known as once closed ?
-Ligementum arteriosum
What is the ductus venosus known as once closed?
-Ligamentum venosum
What is a patent ductus arteriosus ?
-When the ductus arteriosus fails to close at birth
How does a PDA present? (5)
-SOB
-Difficulty feeding
-Poor weight gain
-LRTI
-Murmur picked up on newborn examination
What murmur does a significant PDA cause?
-Normal first heart sound
-Continuous crescendo-decrescendo ‘machinery’ murmur that may continue to the second heart sound
How is a PDA confirmed ?
-Echo
How is a PDA managed ?
-Monitored with echoes until 1 yr
-Trans-catheter or surgical closure
Explain the pathophysiology as to why a PDA leads to heart failure
-It creates a left to right shunt : pressure is greater in the aorta and so blood flows from here to the pulmonary vessels
- This leads to pulmonary hypertension and right sided heart strain as the RV struggles to contract against the increased resistance
-This leads to right ventricular hypertrophy
-Increased blood flow through pulmonary vessels returning to the left side of the heart leads to left ventricular hypertrophy
Give 2 RF for PDA
-Prematurity
-Maternal infections such as rubella
What 2 walls grow downwards from the top of the heart in the fetus to form the atrial septum ?
-Septum primum
-Septum secondum
What is an atrial septal defect?
-A hole in the atrial septum connecting the right and left atria allowing blood to flow between them
What is the most common kind of ASD?
-Ostium secondum : the septum secondum fails to fully close leaving a hole in the wall
Name 2 other kinds of ASD
-Patent foramen ovale
-Ostium primum : this tends to lead to an atrioventricular valve defect, making it an atrioventricular septal defect
What is the most common congenital heart defect in adults?
-Ostium secundum
What kind of ASD is seen in 25% of people with downs syndrome ?
-Ostium primum
Explain the pathophysiology behind an ASD
-Due to higher pressure on the left side, oxygenated bloods moves from the left atrium to the right atrium
-This leads to right sided overload and right sided heart strain
-This right sided overload can lead to right heart failure and pulmonary hypertension
Is an ASD an acyanotic or cyanotic heart defect?
-Acyanotic
-Blood still flows to the pulmonary vessels and lungs to get oxygenated
What murmur is heard in an ASD?
-Mid systolic, crescendo-descrendo murmur heart loudest at the upper left sternal border
What happens to the 2nd heart sound in an ASD?
-Fixed split second heart sound
-This is because there is a greater volume of blood passing by the pulmonary valve
-This means there is a slight delay in it closure compared to the aortic valve
-However, this is on both inspiration and expiration
If an ASD is not picked up on newborn examinations, how might it present in childhood ?
-SOB
-Difficulty feeding
-Poor weight gain
-LRTI
If asymptomatic in childhood, how might an ASD present in adulthood ?
-Dyspnoea
-Heart failure
-Stroke
Why is stroke a common complication of patients with an ASD who develop a venous thromboembolism ?
-The clot travels to the right atrium passes through the ASD to the left atrium
-From here, left ventricle, aorta and up to the brain
Give 4 complications of an ASD
-Stroke
-AF and atrial flutter
-Pulmonary HTN and right sided HF
-Eisenmenger syndrome
How is an ASD managed ?
-If small and asymptomatic = watchful waiting
-Can be surgically correct with transvenous catheter closure via the femoral vein or open heart surgery
What medications are given to adults with an ASD to reduce the risk of clots and strokes
-Anticoagulant : aspirin, warfarin, DOACs
What is a ventricular septal defect?
-A congenital hole in the septum -> ranging from a tiny hole to forming one large ventricle
What 2 genetic conditions are commonly associated with VSD?
-Down’s syndrome
-Turner’s syndrome
What murmur is often heard in antenatal scans in VSD?
-Pan-systolic
-More prominent at the left lower sternal border in the third and fourth intercostal spaces
-Possible systolic thrill on palpation
Give 3 causes of a pan-systolic murmur
-Ventricular septal defect
-Mitral regurgitation
-Tricuspid regurgitation
If not picked up as a newborn, how might a VSD present?
-Poor feeding
-Dyspnoea
-Tachypnoea
-Failure to thrive
Explain the pathophysiology behind why a VSD may lead to heart failure
-Blood is shunted from the left to the right ventricle
-There is right sided overload, right heart failure and increased flow to pulmonary vessels
-Increased flow leads to pulmonary HTN
How is a VSD treated?
-Small : watchful waiting
-Surgery : transvenous catheter closure via femoral vein or open heart surgery
What a patients with a VSD at increased risk of ?
-Infective endocarditis
-If having surgery, prophylactic antibiotics should be given
What is Eisenmenger syndrome ?
-When blood flows from the right to the left side of the heart through a structural lesion, bypassing the lungs
What 3 underlying lesions can cause Eisenmenger syndrome ?
-Atrial septal defect
-Ventricular septal defect
-Patent ductus arteriosus
Explain the pathophysiology behind why Eisenmenger syndrome develops
-ASD or VSD allows left -> right shunt
-This leads to pulmonary HTN
-Eventually pulmonary pressure > systemic pressure
-This creates right -> left shunt
-Deoxygenated blood bypasses the lungs and enters the body
-This causes cyanosis
Give 4 examination findings associated with the pulomonary HTN seen in Eisenmenger syndrome
-Right ventricular heave
-Loud P2
-Raised JVP
-Peripheral oedema
Explain the cyanosis seen in Eisenmenger syndrome
-Blue discoloration of the skin due to low oxygen sats in the blood
-BM will produce more RBC and haemoglobin leading to polycythaemia
-Polycythaemia = plethoric complexion
Give 4 examination findings associated with the right to left shunt and chronic hypoxia in Eisenmenger syndrome
-Cyanosis
-Clubbing
-Dyspnoea
-Plethoric compexion (red complexion related to polcythaemia)
What is the only definite treatment for Eisenmenger syndrome ?
Heart-lung transplant -> it is too late to reverse underlying cause
Define cyanotic heart disease
-When blood is able to bypass the pulmonary circulation and the lungs
Give 4 heart defects that cause a right to left shunt and so cyanotic heart disease
-ASD
-VSD
-Patent ductus arteriosus
-Transposition of the great arteries
What is a flow murmur ?
-Innocent murmur heard in children and are cuased by fast blood flow through various areas of the heart during systole
Give the 5 S’s of flow murmurs
-Soft
-Short
-Systolic
-Symptomless
-Situation dependent : E.g. quieter on standing or only appears when child is unwell or feverish
Give 3 investigations for a murmur
-ECG
-CXR
-Echo
Give 3 causes of ejection-systolic murmurs
-Aortic stenosis
-Pulmonary stenosis
-Hypertrophic obstructive cardiomyopathy
Explain the pathophysiology behind splitting of the second heart sound
-During inspiration, the lungs and heart are pulled open = negative intra-thoracic pressure
-The right side of the heart then fills faster
-The increased volume in the right ventricle causes it to take longer to empty = delay in pulmonary valve closing.
-Pulmonary valve closing later than aortic valve = ‘split’ second heart sound
What is transposition of the great arteries ?
-Attachments of the aorta and pulmonary trunk to the heart are swapped
-The RV pumps blood into the aorta
-The LV pumps blood into the pulmonary vessels
What 3 conditions can transposition of the great arteries be associated with ?
-VSD
-Coarctation of the aorta
-Pulmonary stenosis
How does transposition of the great arteries present ?
-Usually diagnosed on antenatal USS
-If not : baby will present with cyanosis at birth
How is transposition of the great arteries managed ?
-Prostaglandin infusion to maintain ductus arteriosus to allow blood to flow from aorta to pulmonary arteries for oxygenation
-Balloon septostomy
-Open heart surgery = definitive. A cardiopulmonary bypass machine is used to perform an atrial switch within a few days of birth
What is a balloon septostomy ?
-A catheter is inserted into the foramen ovale via the umbilicus and a balloon is inflated to create a large atrial septal defect.
What is a febrile seizure ?
A seizure that occurs in children with a high fever.
What age group suffer from febrile seizures?
6 mnths -> 5 years
What are simple febrile convulsions ?
-Generalised, tonic clonic seizures
-Last <15 mins
-Occur once during a single febrile illness
What are complex febrile convulsions ?
Any of the following :
-Partial or focal seizures
-Last >15 mins
-Multiple occur during the same febrile illness
What needs to be excluded before febrile convulsions are diagnosed ?
-Epilepsy
-Meningitis, encephalitis or other neurological infection
-Intracranial space occupying lesions
-Syncopal episode
-Electrolyte abnormality
-Traume
How are febrile convulsions managed ?
-Identify and treat underlying infection
-Fever : paracetamol and ibuprofen
-Period of observation
Give 3 mechanical consequences of vomiting
-Mallory-Weiss tear
-Boerhaave’s syndrome
-Tears of the short gastric arteries resulting in shock and hemoperitoneum
Give 5 signs of more severe GORD
-Faltering growth
-Oesophagitis +/-stricture
-Apnoea
-Aspiration, wheezing, hoarseness
-Seizure like events
What are the 4 subunits of haemoglobin in the foetus (HbF)
-2 alpha subunits
-2 gamma subunits
Explain the difference between adult and foetal haemoglobin, in terms of the oxygen dissociation curve
-Fetal HbF has a greater affinity for oxygen that HbA
-HbF binds to oxygen more easilty and is more reliuctan to let go
-It sits further left on the oxygen dissociation curve
When does HbF production being to decrease ?
-From 32 to 36 weeks gestation
-HbA is then produced in greater quantities
What can be given to increase HbF production in patients with sickle cell anaemia ?
-Hydroxycarbamide
What is the most common cause of anaemia in infancy ?
-Physiologic anaemia of infancy
Give 4 other causes of anaemia in infancy?
-Anaemia of prematurity
-Blood loss
-Haemolysis
-Twin Twin transfusion -> blood is unequally distributed between twins that share a placenta
Give 3 causes of haemolysis in neonates
-Haemolytic disease of the newborn (ABO or rhesus incompatibility)
-Hereditary spherocytosis
-G6PD deficiency
What is Physiologic Anaemia of Infancy and when does it occur ?
-Six to nine weeks
-High oxygen delivery to the tissues due to high HbF levels at birth leads to negative feedback
-There is reduced erythropoietin produced by the kidneys leading to reduced HbF by the bone marrow
-High oxygen = lower haemoglobin production
Give 4 reasons why premature neonates become anaemic
-Less time in utero receiving iron from the mother
-RBC creation cannot keep up with rapid growth in the first few weeks
-Reduced erythropoietin levels
-Blood tests remove a significant portion of their circulating volume
What is haemolytic disease of the newborn ?
-Incompatibility between rhesus antigens on the surface of RBC of the mother and fetus
Explain the pathophysiology behind haemolytic disease of the newborn
-In subsequent pregnancies, the mothers anti-D antibodies cross the placenta
-If the fetus is resus positive, the Abx attack the RBC
-This leads to haemolysis, anaemia and high bilirubin levels
How is immune haemolytic anaemic diagnosed ?
Direct coombs test
Give the 2 most common causes of anaemia in older children
-IDA -> secondary to dietary insufficiency (most common cause overall)
-Blood loss -> most commonly menstruation in older girls
Give 6 rarer causes of anaemia in children
-Sickle cell
-Thalassaemia
-Leukaemia
-Hereditary spherocytosis
-Hereditaty eliptocytosis
-Sideroblastic anaemia
What is a common cause of blood loss leading to IDA and chronic anaemia in developing countries ?
-Helminth infection : roundworms, hookworms or whipworms
How is a Helminth infection treated ?
-Single dose of albendazole or mebendazole
Give 5 causes of microcytic anaemia
-TAILS
T: Thalassaemia
A : Anaemia of chronic disease
I : Iron deficiency anaemia
L : Lead poisoning
S : Sideroblastic anaemia
Give 5 causes of normocytic anaemia
-3A’s, 2H’s
A : acute blood loss
A : anaemia of chronic disease
A : aplastic anaemia
H : Haemolytic anaemia
H : hypothyroidism
How can macrocytic anaemia be classified ?
-Megaloblastic : impaired DNA synthesis preventing if dividing normally = continuous growth into a large, abnormal cell. Caused by a vitamin deficiency
-Normoblastic
Give 2 causes of megaloblastic macrocytic anaemia
-B12 deficiency
-Folate deficiency
Give 5 causes of normoblastic macrocytic anaemia
-Alcohol
-Reticulocytosis (from haemolytic anaemia or blood loss)
-Hypothyroidism
-Liver disease
-Drugs such as azathroprine
Give 5 generic symptoms of anaemia
-Tiredness
-SOB
-Headaches
-Dizziness
-Palpitations
Give 2 symptoms specific to IDA
-Pica -> dietary cravings for abnormal things such as dirt
-Hair loss
Give 4 general signs of anaemia
-Pale sign
-Conjunctival pallor
-Tachycardia
-Raised resp rate
Give 4 specific signs of IDA
-Koilonychia -> spoon shaped nails
-Angular stomatitis
-Atrophic glossitis
-Brittle hair and nails
Give 8 initial investigations for anaemia
-FBC for Hb and MCV
-Blood film
-Reticulocyte count (high in anaemia due to haemolysis or blood loss)
-Ferritin (low in IDA)
-B12 and folate
-Bilirubin (raised in haemolysis)
-Direct coombs test (autoimmune haemolytic anaemia)
-Haemoglobin electrophoresis (haemoglobinopathies)
Give 3 causes of iron deficiency
-Dietary insufficiency (most common in children)
-Loss of iron -> heavy menstruation
-Inadequate iron absorption (e.g. crohn’s)
Where is iron absorbed and what is required ?
-Duodenum and jejunum -> any conditions causing inflammation can cause inadequate absorption
-Stomach acid to maintain is soluble ferrous (Fe2+) form. Medications such as PPI’s reduced stomach acid = ferric Fe3+ form = insoluble
What is the total iron binding capacity ?
-Total space on the transferrin molecule for iron to bind
What is the transferrin saturation ?
-Proportion of transferrin molecules that iron is bound to?
How is the transferrin saturation calculated ?
Transferrin saturation = Serum Iron / Total Iron Binding Capacity
What is ferritin ?
Stored iron in cells
What does low ferritin suggest ?
Iron deficiency
What does high ferritin suggest ?
-Inflammation
-Ferritin isn released from cells when there is inflammation such as with infection or cancer
What happens to the TIBC and transferrin levels in IDA?
Increased
How is IDA treated ?
-Identify and treat underlying cause
-Ferrous sulphate or ferrous fumarate can be used for supplementation (CI if malabsorption is the cause due to causing constipation and black coloured stools)
-Blood transfusions if necessary
What is ITP?
-Idiopathic thrombocytopenic purpura
-Theres is an idiopathic thrombocytopenia leading to a purpuric non-blanching rash
what causes ITP?
-Type II hypersensitivity reaction
-Antibodies are produced that destroy the platelets
-Can occur spontaneously or as a result of a viral infection
How does ITP present ?
-Usually a history of a viral illness
-Onset of symptoms is 24-48hrs
-Bleeding : gums, epistaxis or menorrhagia
-Bruising
-Petechial or purpuric rash
Who does ITP usually effect ?
-Children <10
How is ITP diagnosed ?
-FBC for platelet count = isolated thrombocytopenia
Give 3 causes of low plts
-ITP
-Heparin induced thrombocytopenia
-Leukaemia
How is ITP treated if patient is actively bleeding of if plt levels are severe (<10)
-Prednisolone
-IV immunoglobulins
-Blood transfusion (if required)
Why would a plt transfusion for ITP only work temporarily ?
-The antibodies with destroy the transfused plts
What key education is given in ITP?
-Avoid contact sports
-Avoid IM injections
-Avoid NSAIDs, aspirin and other blood thinning meds
Give 4 complications of ITP
-Chronic ITP
-Anaemia
-Intracranial and SAH
-Gastrointestinal bleeding
What is thalassaemia ?
-Autosomal recessive condition causing a genetic defect in the protein chains that make up Hb.
Explain the pathophysiology behind thalassaemia
-The RBC are more fragile and are therefore broke down and then removed by the spleen = splenomegaly
-The BM expands to produce more RBC to compensate for the anaemia
-This leads to susceptibility to fractures and prominent features (pronounced foreheads and malar eminences)
Give 8 potential signs and symptoms of thalassaemia
-Microcytic anaemia
-Fatigue
-Pallor
-Jaundice
-Gallstones
-Splenomegaly
-Poor growth and development
-Pronounced forehead and malar eminences
How is thalassaemia diagnosed ?
-Pregnant screening test
-FBC -> microcytic anaemia
-Haemoglobin electrophoresis -> globin abnormalitis
-DNA testing -> genetic abnormality
Why can thalassaemia cause iron overload?
-Faulty creation of RBC
-Recurrent transfusions
-Increased iron absorption from the gut due to anaemia
Give 8 signs of iron overload
-Fatigue
-Liver cirrhosis
-Infertility
-Impotence
-HF
-Arthritis
-DM
-Osteoporosis and joint pain
How is potential iron overload monitored and then treated ?
-Monitor serum ferritin
-Treat with iron chelation and limit transfusions
What chromosome is involved in alpha thalassaemia ?
-16
How is alpha thalassaemia managed ?
-Monitor FBC
-Monitor for complications
-Blood transfusions
-Splenectomy can be performed
-BM transplant can be curative
What chromosome is involved in beta thalassaemia and why is there 3 types ?
11
-Gene defect can either consist of abnormal copies that retian some function or deletion of genese where there is no function :
-Thalassaemia minor
-Thalassaemia intermedia
-Thalassaemia major
What is thalassaemia minor ?
-Carriers of abnormally functioning beta globin gene
-1 abnormal, one normal
-Causes mild microcytic anaemia and pts often only require monitoring and no active treatment
What is thalassaemia intermedia
-2 defective genese or one defective and one deletion gene
-More significant anaemia
-Need monitoring and occassional blood transfusions
-May require iron chelation to prevent iron overload
What is thalassaemia major ?
-Homoxygous for the deletion gene
-Severe : presents with severe anaemia and failure to thrive in early childhood
What are 3 complications of thalassaemia major ?
-Severe microcytic anaemia
-Splenomegaly
-Bone deformities
What is sickle cell anaemia ?
-Genetic condition causing crescent shaped RBC’s
-They are more fragile and more easily destroyed = haemolytic anaemia
Explain the pathophysiology behind sickle cell anaemia
-Pts have an abnormal Hb variant (HbS)
-It is an autosomal recessive condition where there is an abnormal gene for beta-globin on chromosome 11
-One copy = sickle trait and usually asymptomatic
-2 copies = sickle cell disease
Why is having sickle cell trait a selective advantage in areas affected by malaria ?
-It reduces the severity of malaria
-Makes them more likely to survive malaria and pass on their genes
How is sickle cell disease diagnosed
-Newborn screening heel prick test at 5 days old
-Pregnant women at risk of being carriers are offered testing during pregnancy.
What is the general management of sickle cell anaemia ?
-Avoid dehydration and other triggers
-Keep vaccines up to do
-Abx prophylaxis with penicillin V
-Hydroxycarbamide to stimulate HbF production -> protective effect against sickle cell crisis and acute chest syndrome
-Blood transfusion for severe anaemia
-Stem cell transplant can be curative
Give 9 complications of sickle cell disease
-Anaemia
-Avascular necrosis of large joints
-Pulmonary HTN
-CKD
-Sickle cell crisis
-Acute chest syndrome
-Increased risk of infection
-Stroke
-Priapism
Give 4 examples of a sickle cell crisis
-Vaso-occlusive crisis (painful)
-Splenic sequestration
-Aplastic
-Acute chest syndrome
What is a vaso-occlusive crisis
-The sickle RBC’s clog capillaries and cause distal ischaemia
-Presents with pain, fever and signs of triggering infection
-Associated with dehydration and raised haematocrit
-Can cause priapism in med which is treated with aspiration of blood from the penis
What is a splenic sequestration crisis ?
-RBC’s block blood flow to the spleen = enlarged and painful spleen
-Pooling of blood in the spleen can lead to severe and anaemia and circulatory collapse (hypovolaemic shock)
-Mx : blood transfusion, fluid resus
-Recurrent crises -> splenectomy as reccurrent crisis can lead to splenic infarct
What is an aplastic crisis ?
-Temporary loss of creation of new blood cells
-Usually triggered by parovirus B19
-Leads to severe anaemia and is managed with blood transfusion if necessary
When is acute chest syndrome diagnosed ?
-Fever or resp symptoms with NEW INFILTRATES seen on CXR
What causes acute chest syndrome ?
-Infection (pneumonia, bronchiolitis)
-Non-infective (pulmonary vaso-occlussion or fat emboli)
How is acute chest syndrome managed ?
-Abx or antivirals for infection
-Blood transfusions for anaemia
-Incentive spirometry for breathing
-Artifical ventilation with NIV or intubation if required
What is haemiphilia and its causative deficiencies
-Inherited severe bleeding disorders
-Haemophilia A -> deficiency in factor VIII
-Haemophilia B -> deficiency in factor IX
Explain the inheritance of haemophilia
-X linked recessive
-Almost exclusively affects males
How does haemophilia present
-Excessive bleeding in response to trauma or spontaneous haemorrhage
-Usually in neonates or early childhood with intracranial haemorrhage, haematomas and cord bleeding
-E.g. 11mnth -> bruising, painful and swollen joint but no fever
Where can bleeding occur in haemophilia ?
-Joints (haemathrosis) and muscles = severe
-Gums
-GI tract
-Urinary tract -> haematuria
-Retroperitoneal space
-Intracranial
-Following procedures
How is haemophilia diagnosed ?
1st line = clotting screen
-Bleeding scores
-Coagulation factor assays
-Genetic testing
How is an acute episode of bleeding managed in haemophilia ?
-Infusions of the factor
-Desmopressin to stimulate VWF release
-Antifibrinolytics such as tranexamic acid
What is a complication of clotting factor IV infusions
-Abx can be made against the factors
What is the most common inherited cause of abnormal bleeding ?
-Von Willebrand Disease
What is the inheritance pattern of VWD?
-Autosomal dominant
-Involves deficiency, absence or malfunctioning VWF
-3 types, type 3 most severe
How does VWD present ?
-Hx of unusually easy, prolonged or heavy breathing
-Bleeding gums with brushing
-Epistaxis
-Menorrhagia
-Heavy bleeding during surgical operations
-Fx of heavy bleeding or VWD
How is major trauma treated in VWD?
-Desmopressin to stimulate release of VWD
-VWF infusion
-Factor VIII
Give 5 treatments for menorrhagia in women with VWD
-Tranexamic acid
-Mefanamic acid
-Norethisterone
-COC pill
-Mirena coil
How might a baby present with a UTI?
-Fever may be the only symptoms
-Lethargy
-Irritability
-Vomiting
-Poor feeding
-Urinary frequency
What are the signs and symptoms of a UTI in older children ?
-Fever
-Suprapubic abdo pain
-Vomiting
-Dysuria
-Urinary frequency
-Incontinence
What is the first line examination in a UTI
-Clean catch urine dip
What might be seen on a urine dip in a UTI?
-Nitrites
-Leukocytes
If nitrites are present in the urine, what are the possible organisms?
-E.coli
-Proteus mirabilis
How should all children under 3 mnths old with a fever be managed ?
-IV antibiotics (e.g. ceftriaxone)
-Full septic screen including cultures, bloods and lactate.
When is an USS done in a child with a UTI?
-All children under 6mnths with their first UTI
-Children with recurrent UTI’s
-Children with atypical UTI’s
When is a DMSA scan done in a child with a UTI
-4 to 6 mnths after the illness to assess for kidney scarring in recurrent or atypical UTI’s
-Patches of scarred kidney will not take up the injected material
When is a micturating cystourethrogram (MCUG) done in a child with a UTI?
-To assess for vesico-ureteric reflux when the urine has a tendency to flow from the bladder back into the ureters
-Done to assess atypical or recurrent UTI’s in children <6mnths
How is a MCUG done?
-A child is catherised and contrast is injected into the bladder.
-X-rays are then taken to determine whether the contrast refluxes into the ureters
Give 2 potential oral Abx that can be used for a UTI
-Trimethoprim
-Nitrofurantoin
When would a diagnosis of acute pyelonephirits be given in a child?
-Temp of greater than 38 degrees
-Loin pain or tenderness
Define enuresis, nocturnal enuresis and diurnal enuresis
-Enuresis : involuntary urination
-Nocturnal enuresis : bed wetting
-Diurnal enuresis : inability to control bladder functioning during the day
What is primary nocturnal enuresis
-Where a child has never managed to be consistently dry at night
-Usually caused by a variation on normal development and there will often be Fx of delayed dry nights.
-Requires reassurance
Give 4 other causes of primary nocturnal enuresis
-Overactive bladder
-Fluid intake -> fizzy drinks, juice and caffeine before bed
-Failure to wake
-Psychological distress
Give 4 secondary causes of primary nocturnal enuresis
-Chronic constipation
-UTI
-Learning disability
-Cerebral palsy
How is primary nocturnal enuresis managed ?
-Determine cause using 2 wk diary
-If <5, reassure will likely resolve
-Lifestyle changes : reduce fluids at night, pass urine before bed
-Encourage and + reinforcement
What is secondary nocturnal enuresis ?
-When a child begins wetting the bed when they have been previously dry for at least 6 mnths
Give 5 causes of secondary nocturnal enuresis
-UTI
-Constipation
-T1DM
-New psychosocial problems
-Maltreatment
Give 2 kinds of diurnal enuresis
-Urge : overactive bladder than gives little warning before emptying
-Stress : leakage of urine during physical exertion, coughing or laughing
Give 3 types of medication that can be used for nocturnal enuresis
-Desmopressin - taken at bed time to reduce the volume of urine production by the kidney
-Oxybutin - anticholinergic medication reducing contractility of the bladder in an overactive bladder causing urge incontinence
-Imipramine - tricyclic antidepressant
What is the triad of nephrotic disease ?
-Low serum albumin
- High protein on dipstick (>3)
-Oedema
Give 3 other features that occur in pts with nephrotic syndrome
-Deranged lipid profile -> high cholesterol, triglycerides and low density lipoproteins
-High BP
-Hyper-coagulability with increased tendency to form blood clots
What is nephrotic syndrome ?
-When the basement membrane in the glomerulus becomes highly permeable to protein, allowing protein to leak from the blood into the urine.
When is nephrotic syndrome most common in children and what is the most common cause
-Aged 2-5
-Minimal change disease : occurs in isolation, no other underlying condition or pathology
Give 5 secondary causes of nephrotic syndrome
-Intrinsic kidney disease : focal segmental glomerulosclerosis and membranoproliferative glomerulonephritis
-Systemic illness : henoch schonlein purpura, DM, infection (HIV, hepatitis and malaria)
How will minimal change disease likely present ?
-2 to 5 year old
-Generalised oedema
-Frothy urine
-Pallor
-Proteinuria
-Low albumin
What is seen on urinalysis in minimal change disease ?
-Small molecular weight proteins
-Hyaline casts
How is nephrotic syndrome managed ?
-Prednislone (60mg/m2/day) for 4wks and then 40mg/m2/every other day for 8 weeks
-Low salt diet
-Diuretics for oedema
-Albumin infusions if severe hypoalbuminaemia
What is used to treat minimal change disease in steroid resistant children ?
-ACE inhibitors
-Immunosuppressants (cyclosporine, tacrolimus, rituximab)
Give 5 complications of minimal change disease
-> Hypovolaemia : occurs as fluid leaks from the intravascular to the interstitial space causing oedema and low BP
-> Thrombosis
-> Infection
-> Acute or chronic renal failure
-> Relapse
What is coarctation of the aorta ?
-Congenital condition where there is narrowing of the aortic arch, usually around the ductus arteriosus
What genetic condition is often associated with coarctation of the aorta ?
-Turner’s syndrome
Weak Explain the pathophysiology behind coarctation of the aorta
-There is reduced pressure of blood flowing to the arteries distal to the narrowing
-Increased pressure in the areas proximal to the narrowing : heart and first 3 branches of aorta
How might coarctation of the aorta present in infancy ?
-Weak femoral pulses
-Systolic murmur in the left infraclavicular area, below the scapula
-Tachypnoea and increased work of breathing
-Poor feeding
-Grey and floppy baby
What wouold you see on a four limb blood pressure in a child with coarctation of the aorta ?
-High BP in limbs supplied from arteries before the narrowing
-Lower BP in limbs after the narrowing
What 3 signs develop over time in a child with coarctation of the aorta ?
-Left ventricular heave due to ventricular hypertrophy
-Underdeveloped left arm where there is reduced flow to the left subclavian artery
-Underdevelopment of the legs
How is coarctation of the aorta managed ?
-> If severe : Prostaglandin E is given to keep the ductus arteriosus open whilst waiting for surgery. This allows blood to flow into the systemic circulation distal to the coarctation
-> Surgery them corrects to coarctation and to ligate the ductus arteriosus
What is congenital aortic stenosis ?
-Narrow aortic valve, restricting blood flow from the left ventricle to aorta
-They may have 1,2,3 or 4 leaflets as part of the aortic sinuses of valsalva
How many leaflets normally make up the aortic valve ?
-3
What murmur is seen in aortic stenosis ?
-Ejection systolic murmur
-Crescendo-decrescendo character
-Radiates to the carotids
How does a more significant aortic stenosis present ?
-Fatigue
-SOB
-Dizziness
-Fainting
-All worse on exertion
-Severe : HF within mnths of birth
What other signs may be present on examination in aortic stenosis ?
-Ejection clicking before murmur
-Palpable thrill in systole
-Slow rising p§ulse and narrow pulse pressure
What is the gold standard Ix in aortic stenosis ?
-ECHO
Give 3 treatment options for aortic stenosis
-Percutaneous ballor aortic valvuloplasty
-Surgical aortic valvotomy
-Valve replacement
Give 5 complications of aortic stenosis
-Left ventricular outflow tract obstruction
-HF
-Ventricular arrhythmia
-Bacterial endocarditis
-Sudden death, often on exertion
What is congenital pulmonary valve stenosis ?
-The 3 leaflets of the pulmonary valve become thickened or fused
-This causes a narrow opening between the RV and the pulmonary artery
Give 4 associations with pulmonary valve stenosis
-Tetralogy of Fallot
-William syndrome
-Noonan syndrome
-Congenital rubella syndrome
What are the symptoms of a significant pulmonary valve stenosis
-Fatigue on exertion
-SOB
-Dizziness
-Fainting
Give 4 signs of pulmonary valve stenosis
-Ejection systolic murmur loudest in the pulmonary area
-Palpable thrill
-Right ventricular heave
-Raised JVP with giant a waves
How is a symptomatic pulmonary valve stenosis managed ?
-Balloon valvuloplasty via. a venous catheter passing through the femoral vein, inferior cava to the pulmonary valve.
What are the 4 co-existing pathologies in the tetralogy of Fallot
-VSD
-Overriding aorta
-Pulmonary valve stenosis
-Right ventricular hypertrophy
Give 4 RF for tetralogy of Fallot
-Rubella infection
-Increased maternal age (>40)
-Alcohol in pregnancy
-Diabetic mother
Explain the pathophysiology behind tetralogy of fallot
-The overriding aorta sits further right, over the VSD
-When the RV contracts, deoxygenated blood flows through the VSD & into the aorta
-Pulmonary stenosis increases resistance further encouraging a right to left shunt
-Right to left shunt means blood bypasses the lungs = cyanosis
-Increased resistance causes right ventricular hypertrophy
What Ix are used in tetralogy of fallot
-1st line = echo
-Doppler flow study = severity
-CXR = boot shaped heart due to right ventricular hypertrophy
Give 6 signs and symptoms of tetralogy of fallow
-Cyanosis
-Clubbing
-Poor feeding
-Poor weight gain
-Ejection systolic murmur in the pulmonary area
-Tet spells
What is a tet spell
-Intermittent symptomatic period where the right to left shunt in tetralogy of fallot becomes temporarily worsened
-Precipitating a cyanotic episode
Explain the pathophysiology behind a tet spell
-Occurs when pulmonary vascular resistance increases or systemic resistance decreases
-Blood chooses the path of least resistance and is pumped from the right ventricle to the aorta bypassing the lungs
What can precipitate a tet spell
-Waking, physical exertion or crying
-The physical exertion produces CO2
-CO2 causes systemic vasodilation and reduces systemic vascular resistance
What position can help in a tet spell?
-Older children : squatting
-Younger : positioning knees to chest
-This increases vascular resistance, encouraging blood to enter pulmonary vessels
How is tetrolagy of fallot managed ?
-Prostaglandin infusion to maintain ductus arteriosus
-Total surgical repair by open heart surgery when ready
Give 3 common causes of viral gastroenteritis
-Rotavirus
-Norovirus
-Adenovirus -> less common, more subacute diarrhoea
How would E.coli present if causing gastroenteritis
-Abdo cramps, D&V
-The shiga toxin leads to HUS
-Abx should be avoided due to increased risk of HUS
What is the most common bacterial causes of gastroenteritis worldwide ?
-Campylobacter jejuni -> gram neg
-Abdo cramps, bloody diarrhoea, vomiting, fever
-Raw poultry, untreated water, unpasteurised milk
-Abx : azithromycin, ciprofloxacin
How would shigella gastroenteritis present ?
-Faeces contaminated food and water
-Bloody diarrhoea, abdo cramps, fever
-Shiga toxin -> HUS
-Severe : azithromycin or ciprofloxacin
Explain salmonella causes of gastroenteritis
-Raw eggs, poultry
-Watery diarrhoea
-Abx only in severe cases
How does bacillus cereus as a cause of gastroenteritis present ?
-Fried rice eaten at room temp
-Cereulide toxin produces abdo cramping and vomiting withing 5 hrs
-Diarrhoea within 8 hrs
-Resolves within 24
-Gram positive rod
Explain yersinia enterocolitica as a cause of gastroenteritis
-Raw or undercooked pork
-Diarrhoea, abdo pain, fever and lymphadenopathy
-Lasts >3 wks
-Can cause mesenteric lymphadenitis in older children and fever
Explain staph aureus as a cause of gastroenteritis
-Produce enterotoxins when growing on eggs, dairy, meat etc
-Diarrhoea, perfuse vomiting, abdo cramps and fever
-Lasts 12-24 hrs
Give a parasitic cause of gastroenteritis
-Giardia lamblia
-Tx with metronidazole
What are the principles of gastroenteritis management
-Barrier nursing
-Stool microscopy, culture and sensitivities
-Hydration -> attempt fluid challenge. Dioralyte can be used to rehydrate or IV fluid is needed
How can intestinal obstruction present and how is it diagnosed ?
-Persistent, possibly bilious vomiting
-Abdo pain and distention
-Failure. topass stool or wind
-Abnormal bowel sounds : high pitched ‘tinkling’, absent later
-XRAY : dilated bowel proximal and collapsed loops distal + absence of air in rectum
Define encopresis
-Faecal incontinence -> pathological at 4 yrs
-Chronic constipation causes the rectum to stretch and lose sensation.
-Only loose stool can bypass blockage and leak out
How is constipation managed ?
-High fibre diet and good hydration
-Movicol is 1st line laxative
-Faecal impaction may need disimpaction regime with high dose laxative first
What is whopping cough and what causes it ?
-URTI
-Bordetella pertussis (gram neg)
How does whooping cough present ?
-Initial : mild coryzal with low grade fever and dry cough
-1 wk : severe paroxysmal coughing fits with large inspiratpry whoop
-Possible apnoea presentation
How is pertussis diagnosed ?
-Nasal swab with PCR testing or bacterial culture within 2 to 3 wks of symptoms
-If cough present for >2 wks : anti-pertussis toxin immunoglobulin G on oral fluid aged 5-16 and blood if >17
How is whooping cough managed ?
-Notify public health
-Supportive care
-Within 21 days of onset : macrolide abx (azithromycin, erythromycin)
What is a key complication of whooping cough ?
-Bronchiectasis
Go over chronic asthma mindmap
See mindmap
How does a moderate acute exaccerbation of asthma present ?
-Peak flow >50% predicated
-Normal speech
-No other features
How does a severe asthma exacerbation present ?
-Peak flow <50% predicated
-Saturations <92%
-Unable to complete sentances in one breath
-Signs of resp distress
-resp rate : >40 in 1-5 yrs, >30 in >5 yrs
How does a life threatening asthma exacerbation present ?
-Peak flow <33%
-Saturations <92%
-Exhaustion and poor resp effort
-Hypotension
-Silent chest
-Cyanosis
-Altered consciousness / confusion
How is mild acute asthma / viral induced wheeze managed ?
-Outpatient with regular salbutamol via a spacer
How is moderate to severe acute asthma / viral induced wheeze managed ?
Stepwise until control achieved
- Salbutamol via spacer : 10 puffs every 2 hrs
- Nebulsiers with salbutamol / ipratropium bromide
- Oral pred (1mg per kg OD for 3 days)
- IV hydrocortisone
- IV magnesium sulphate
- IV salbutamol
- IV aminophylline
What are the stepwise medications used in viral induced wheeze / acute asthma
-Oxygen (if <94%)
-Bronchodilators)
-Steroids
-Antibiotics
What is the discharge plan in acute asthma?
-Can be discharged once on 6 puffs 4 hrly of salbutamol
What is hereditary spherocytosis and how is it inherited ?
-RBC are sphere shaped = easily destroyed
-Autosomal dominant, along woth hereditary elliptocytosis
How does hereditary spherocytosis present?
-Jaundice
-Anaemia
-Gallstones
-Splenomegaly
What infection can trigger an aplastic crisis in hereditary spherocytosis ?
-Parovirus
What is an aplastic crisis
-Anaemia, haemolysis and jaundice is increased without the BM creating new RBCs
How is hereditary spherocytosis diagnosed and anaged ?
-Blood film : spherocytes, raised MCHC, raised reticulocytes
-Manage : folate and splenectomy
What is. theinheritance pattern of G6PD deficiency and how can a crisis be triggered ?
-X linlked recessive
-Infections, medications, fava (broad) beans
-Exam presentation : jaundice following the triggers above
Explain the pathophysiology behond G6PD deficiency
-> Deficiency in G6PD = cells more vulnerable to ROS = haemolysis of RBC
-> Period of increased stress = higher production of ROPS = acute haemolytic anaemia
How does G6PD deficiency present ?
-Neonatal jaundice
-Anaemia, intermittent jaundice, gallstones, splenomegaly
What is seen on investigations in G6PD deficiency
-Heinz bodies on blood film
-Diagnosed using G6PD enzyme assay
What is rheumatic fever ?
- Autoimmune condition caused by group A beta-haemolytic streptococcal (typically streptococcus pyogenes causing tonsilitis).
- The antibodies to target the bacteria also target antigens on the cells of the person’s body (e.g. myocardium of the heart)
-Leads to type 2 hypersensitivity reaction where the immune system begins attacking cells through the body.
What is the diagnostic criteria for rheumatic fever
-Evidence of strep infection + two major criteria or 1 major and 2 minor
-Major :
- J : Joint arthritis
- O : Organ inflammation (e.g. carditis)
- N : Nodules
- E : Erythema marginatum rash
- S : Sydenham chorea
-Minor :
- F : Fever
- E : ECG changes(prolonged PR interval) without carditis
- A : Arthralgia without arthritis
- R : Raised inflammatory markers
What should be given for tonsilitis caused by streptococcus to prevent rheumatic fever ?
-Phenoxymethylpenicillin (penicillin V) for 10 days
What is Ehlers-Danlos syndrome ?
-Autosommal dominant
-Defect in collagen, resulting in hyper-mobility causing joint pain and soft and stretchy skin
What score is used to assess hypermobility on EDS
-Beighton score : palms flat on floor, elbows, knees, thumb and little finger hyperextend
What is a common cardiac involvement of EDS?
-Aortic regurgitation
-Postural Orthostartic tachycardia Syndrome
What is Henoch-Schonlein Purpura ?
-IgA vasculitis affecting the skin, kidneys and GI tract
What can tigger Henoch-Schonlein purpura and what are the 4 common features ?
-URTI or gastroenteritis
-Common in <10 yrs
-Purpura
-Joint pain
-Abdo pain : can lead to GI haemorrhage, intussusception and bowel infarction
-IgA nephritis : haematuria and proteinuria !
What would be a common exam presentation in henoch-scholein purpura
-8 yr old, recent gastroenteritis. Purpura starting on legs and speading to buttock. Arthralgia in knees and ankles. Abdo pain. Haematuria and proteinuria on dipstick.
What would be a common exam presentation in henoch-scholein purpura
-8 yr old, recent gastroenteritis. Purpura starting on legs and speading to buttock. Arthralgia in knees and ankles. Abdo pain. Haematuria and proteinuria on dipstick.
Give 4 non infective causes of a fever lasting >5 days in a child
-Stills Disease
-Leukaemia
-Rheumatic fever
-Kawasaki
How does systemic JIA present ?
-Subtle salmon-pink rash
-Joint pain
-High swinging fevers
What medications can be used to treat JIA?
-NSAIDs
-Steorid injections
-DMARDS (e.g methotraxate, sulfasalazine)
-Biologics : adalimumab, infliximab
What is insulin and where is it produced ?
-Anabolic hormone produced by the beta cells in the islets of Langerhans. inthe pancreas
In what 2 ways does insulin reduced blood sugar ?
-Causes cells to absorb glucose
-Causes muscle and liver cells to absorb glucose and stored as glycogen
What is glucagon and where is it produced ?
-Catabolic hormone that increasedsblood glucose and is produced by alpha cells in the islets of langerhans of the pancreas
How does glucagon increase blood glucose ?
-Glycogenolysis : tells the liver to break glycogen to glucose
-Gluconeogenesis : tells the kiver to convert proteins and fats to glucose
What is ketogenesis and when does it occur
-The liver converts fatty acids to ketones
-Occurs when there is insufficient supply of glucose and glycogen stores are exhausted
How do children present with T1DM?
-DKA
OR
-Polyuria
-Polydipsia
-Weight loss
What are the two methods of insulin injection for T1DM
-Insulin pump
OR
-Long acting inuslin + short acting injected 30 mins before carb intake -> Basal-Bolus
How is severe hypoglycaemia treated ?
-IV dextrose + intramuscular glucagon
Give 4 macrovascular complications of hyperglycaemia
-Coronary artery disease
-Peripheral ischaemia
-Stoke
-HTN
Give 3 microvascular complications of hyperglycaemia
-Peripheral neuropathy
-Retinopathy
-Kidney disease, particularly glomerulosclerosis
What 3 problems arise in DKA ?
-Ketoacidosis
-Dehydation -> polyuria, polydipsi
-Potassium imbalance -> low total body potassium
How is DKA diagnosed ?
-Hyperglycaemia
-Ketosis
-Acidosis
-Raised creatinine kinase
Why should someone in DKA have their GCS closely monitored ?
-Risk of cerebral oedema
-The rapid correction of dehydration and hyperglycaemia causes water to shift from extracellular to intracellular space cause the brain to swell
-Tx : slow IV fluids, IV mannitol and IV hypertonic saline
How is DKA treated?
- Correct dehydration evenly over 48 hrs -> IV fluids (0/9% NaCl 10ml/kg)
- Get a fixed rate of insulin infusion : 0.1 units/kg/hr
-Prevent hypoglycaemia with IV dextrose once blood glucose is below 14mmol/l
-Add potassium and monitor
What is hypospadias?
-> Congenital abnormality : ventral urethral meatus, hooded prepuce and chordee (curvature) in more severe forms
-> management with surgery at 12 mnths, cicrumcision is CI
What is a cause of primary adrenal insufficiency ?
-Addison’s disease -> most commonly autoimmune and is damage to the adrenal glands resulting in reduced cortisol and aldosterone
What blood results are seen in primary adrenal failure ?
-Low cortisol
-Low aldosterone
-High ACTH
-High renin m
What is an addisonian crisis ?
-Acute presentation of severe addisons
-Reduced consciousness, hypotension, hypoglycaemia, hyponatraemia and hyperkalaemia
How is an addisonian crisis managed ?
-IV hydrocortisone
-IV fluid resus
-Correct hypoglycaemia
How is addisons disease managed ?
-Hydrocortisone to replace cortisol
-Fludrocortisone to replace aldosterone
-Sick day rules : increase steroid, monitor blood sugar and IM steroid if D&V
Explain the short synacthen test
-Synthetic ACTH is given
-In healthy adrenal glands, cortisol will increase
-Less than double the baseline rise in cortisol suggests addisons
Congenital adrenal hyperplasia : what, inheritance
-Congenital deficiency in 21-hydroxylase enzyme leading to underproduction of cortisol and aldosterone and overproduction of androgens from birth
-Autosomal recessive
What are the blood results in someone with CAH
-Low cortisol
-Low aldosterone
-High testosterone
->21-hydroxylase is used to convert progesterone to cortisol and aldosterone, without it, the excess is converted to testosterone
How does severe CAH present ?
-At birth with ‘ambiguous genitalia’ and enlarged clitorus
- Shortly after birth : Hyponatraemia, hyperkalaemia and hypoglycaemia + metabolic acidosis = poor feeding, vomiting, dehydration and arrhythmias
How does milder CAH present in women ?
-Tall for age
-Facial hair
-Absent periods
-Deep voice
-Early puberty
Hyperpigmentation
How does milder CAH present in males ?
-Tall for age
-Deep voice
-LArge penis
-Small testicles
-Early puberty
Hyperpigmentation
How does growth hormone deficiency present?
-Neonates : micropenis, hypoglycaemia, severe jaundice
-Older infants : poor growth, short stature, slow development of movement and strength and delayed puberty
How is growth hormone deficiency managed ?
-Daily subcutaneous injections of GH (somatropin)
If not picked up at birth, how can congenital hypothyroidism present ?
-Prolonged neonatal jaundice
-Poor feeding
-Constipation
-Increased sleeping
-Reduced activity
-Slow growth and development
What is the most common cause of acquired hypothyroidism
-Autoimmune thyroiditis (Hashimoto’s)
-Anti-TPO antibodies
Vulvovaginitis : definition, presentation, Ix and management
-Inflammation of vulva and vagina (3-10 yrs)
-Presentation : soreness, itching, erythema, vaginal discharge, dysuria, constipation
-Urine dip = leukocytes, no nitrites
-Management = avoid soap and perfumed products etc
What are the 3 characteristics of nephritis
-Haematuria
-Proteinuria : less than in nephrotic syndrome
-Reduction in kidney functione
What would suggest a psot-streptococcal glomerulonephritis?
-Evidence of recent tonsilitis caused by streptococcus
What is berger’s disease ?
-IgA nephropathy -> IgA depositis in the nephrons causing nephritis
-Renal biopsy shows IgA depositis and glomerular mesangial proliferation
-Tx : supportive tx of renal failure and immunosuppressants such as steroids and cyclophosphamide
What is the common triad in HUS
-Haemolytic anaemia - normocytic anaemia
-Acute kidney injury
-Thrombocytopenia
What is the most common cause of HUS
-> Shigella toxin produced by e.coli 0157
What is the most common cause of HUS
-> Shigella toxin produced by e.coli 0157
How would HUS present ?
-Brief gastroenteritis caused by E.coli : bloody diarhoea
-Acute kidney injury : reduced urine output, haematuria
-Thrombocytopenia : brusing
-Abdo pain, lethargy and irritability, confusion, oedema, HTN
-ARPKD : cause, features, diagnosis
-Mutation inPKHD1 on chromsone 6
-Features : cystic enlargement of renal collecting ducts, congenital liver fibrosis, oligohydramnios, pulmonary hyperplasia and potter syndrome
-Picked up on antenatal scans
Explain the pathophysiology behind ARPKD
-> Oligohydramnios = potter syndrome
-> Potter syndrome = dysmorphic features
Wilms tumour : what, age, presentation, diagnosis, management
-> kidney tumour
-> <5 yrs
-> Abdo mass, haematuria, cancer red flags
-> USS, biopsy for definitive
-> Surgical excision + nephrectomy + adjuvant chemo. radiotherapy
What can oligohydramnios cause ?
-Pulmonary hypoplasia with resp failure shortly after birth
What is a posterior urethral valve and who does it affect ?
-There is tissue at the proximal end of the urethra causing obstruction to urine output
-Newborn boys = difficulty urination, recurrent UTI, impaired kidney function
Explain the pathophysiology behind a posterior urethral valve
-Obstruction to outflow = back pressure = hydronephrosis
-The reservoir of urine leads to increased UTIs
-In severe cases = bilateral hydronephrosis and oligohydramnios = pulmonary hyperplasia
At what point should orchidopexy be carried out to correct undescended testes
Between 6 and 12 mnths of age
What are the 2 types of hydrocele and what can be seen on examination ?
-Simple : fluid trapped in tunica vaginalis
-Communication : tunica vaginalis is connected to the peritoneal cavity meanging the hydrocele can fluctuate in size
-Soft, smooth non tender swelling that transilluminates with light
What is the most common cause of hand, foot and mouth disease ?
-Coxsackie A virus
What kind of vaccine is rotavirus ?
-Oral, live attenuated vaccine
How is a paediatric intestinal malrotation with volvus managed?
-Ladd’s procedure
What is the most common cause of tonsillitis
-> viral infection
What is the most common cause of bacterial tonsilitis
-> Group A strep (streptococcus pyogenes) : treated with penicillin V for 10 days
What is used to estimate the probability that tonsitilits is due to a bacterial infection
FeverPain score
-Fever in previpus 24 hrs
-P : purulence on the tonsils
-A : attened within 3 days of symptom onset
-I : inflamed tonsils
-N : no cough or coryza
4-5 = 62-65% probablility of bacterial tonsilitis
What is the most common bacterial cause of otitis media
-Streptococcus pneumoniae
How does otitis media commonly present ?
-Ear pain
-reduced hearing
Preceding viral URTI : fever, cough, coryzal symptoms, sore throat
What antibiotics can be used in otitis media ?
-Amoxicillin 5 days
-Erythromycin. orclarithromycin
What is glue ear and how is present and how does does it look when using an otoscopy ?
-> Fluid build up in the middle ear due to blockage of the eustachian tube
-> Reduction in hearing
-> Dull tympanic membrane with air bubbles or visual fluid level
Down’s syndrome
-Abnormality
-Cardiac defects
-Screening
-Testing
-Trisomy 21
-ASD,VSD, PDA and tetralogy of Fallot
-Combined test for screening
-Amniocentesis or chronic villus sampling for diagnosis
Turner’s syndrome
-Abnormality
-Features
-Cardiac defect
-Female with single X chromosome : 45XO
-Short stature, webbed neck, wide spaced nipples
-Coarctation of aorta
Klinefelters
-Abnormality
-Features
-Male with additional X : 47XXY
-Develop at puberty : taller, wider hips, fynaecomastia, smaller testicles, reduced libido
Noonan syndrome
-Inheritance
-Features
-Associated conditions
-Dominant
-Short stature, broad forehead, hypertelorism, low set ears
-Cryptochidism, pulmonary valve stenosis, hypertrophic cardiomyopathy and ASD
Marfans
-Inheritance
-Affected gene
-Features
-Cardiac defect
-Dominant
-Affects fibrillin
-Tall, long neck, long limbs, arachnodactyly
-mitral or aortic valve prolapse and aortic aneurysms
Fragile X
-Mutation
-Inheritance
-Features
-Very friendly and social
-Supravalvular aortic stenosis
-Elfin-like facies
-Learning difficulties
-Short sature
-Transient neonatal hypercalcaemia
Williams
Diagnosed with FISH studies
constant insatiable hunger - obesity
hypotonia : GH can help muscle development
learning disability
fairer, soft skin prone to bruising
Almond shaped eyes
Stabismus
Thin upper lip
Down turned mouth
Prader-Willi syndrome
Fascination with water
Happy demeanour
Inappropriate laughter
Hand flapping
Widely spaced mouth and teeth
angelman syndrome
starburst eyes
very sociable trusting personality
wide mouth and widely spaced teeth
associated supravalvular aortic stenosis
associated hypercalcaemia
Williams syndrome
X-linked recessive
progressive proximal muscle weakness from 5 yrs
calf psuedohypertrophy
gower’s sign : use arms to stand up from squatted position
Raised creatining kinase
duchenne muscular dystrophy
-Dry, red, itchy and sore patches on flexor surfaces (inside elbows and knees)
Eczema
what is the maintenance management of eczema
-Emollients
how are flares of eczema managed
Thcker emollients
Topical steroids : mildest - hydrocortisone
‘wet wraps;
Rarely : IV Abx or oral steroids
what is the most common organism to cause infection in eczema
staph aureus
Previous eczema
widespread painful, vescicular rash
systemic : fever, lethargy, irritability and reduced oral intake
lymphadenopathy
eczema herpeticum -> caused by HSV or VZV
-Non specific : fever, cough sore throat, mouth, eyes and itchy skin.
-Later : blistering rash across skin
-Pain, erythema, blistering and shredding of lips and mucous membranes
-Eyes, urinary tract, lungs and internal organs can be affected
Stevens-johnson syndrome (SJS) or toxic epidermal necrolysis (TEN)
Explain. thedifference between SJS and TEN
Both a result of epidermal necrosis
SJS : <10% body surface
TEN : >10%
give 4 medications and 4 infective causes of SJS and TEN
Medication : anti-epileptics, Abx, allopurinol, NSAIDs
Infections : HSV, mycoplasma pneumonia, cytomegalovirus, HIV
what are the 6 viral exanthemas
1st - measles
2nd - scarlet fever
3rd - rubella
4th - duke’s disease
5th - parovirus B19
6th - roseola infantum
Fever, coryzal sx and conjunctivtis
Koplick spots
Rash on the face, behind the ears
Notifiable disease
Isolate until 4 days after Sx resolve
measles
-Red-pink, blotchy, macular rash with rough ‘sandpaper’ skin
-Fever
-Lethargy
-Flushed face
-Sore throat
-Strawberry tongue
-Cervical lymphadenopathy
scarlet fever
what cause scarlet fever and how is it managed
Group A strep
Penicillin V or 10 days
Notify public health
Kepp off school until 24 hrs after starting abx
-Mild erythematous rash starting on face & spreading to rest of body
-Fever, joint pain & sore throat
-Lymphadenopathy
-Notify public health
-Supportive management
-Keep off school. for at least 5 days after rash appears
Rubella
starts with fever, coryza and non specific symptoms
2-5 days later : diffuse bright red rash on both cheeks
few days later : raised itchy rash on trunk and limbs
Once rash has formed - back to school
Parovirus B19
-High fever 1-2 wks after infection
-Comes on suddenly, lasts 3-5 days and disappears
-When fever settles, rash appears
-Complications : febrile convulsions
roseola infantum
Urticaria : definition , pathophysiology, management
-small, itchy lumps +/- erythematous ash
-caused by histamine release from mast cells
-acute urticaria = allergic reaction
-Managed with antihistamines (fexofenadine)
what causes chicken pox
varicella zoster virus (VZV)
what can be given to immunocomprised patients, neonates and those at risk of compliucations of chcikenpx
aciclovir
give 6 complications of chickenpox
bacterial superinfection
dehydration
conjunctival lesions
pneumonia
encephalitis (ataxia)
shingles or ramsay hunt syndrome if the virus lays dormant in sensory dorsal root ganglion cells
caused by coxsackie A
initial URTI
mouth ulcers
blistering red spots on hands, feet and around mouth
hand, foot and mouth disease
Prodrome of flu like symptoms
Unilateral or bilateral parotid gland swelling
Notify public health
Supportive management
Mumps
give 4 complications of mumps
pancreatitis : abdo pain
orchitis : testicular pain
meningitis : confusion, neck stiffness, headache
sensorineural hearing loss
what kind of virus are hep B and hep C
Hep b: DNA
Hep c : RNA
what is the most common cause of encephalitis is children
Viral infection with HSV-1
In neonates : HSV-2 from genital warts
altered consciousness
altered cognition
unusual behaviour
acute onset of neurological symptoms
acute onset of focal seizures
fever
encephalitis
how is encephalitis investigated
LP for CSF with viral PCR testing
CT if LP is CI
how is encephalitis managed
Aciclovir for HSV and VZV
Ganciclovir for CMV
give the 4 types of hypersensitivity reaction
- IgE - food allergy
- IgG and IgM - haemolytic disease of newborn, transfusion reactions
- Immune complexes - SLE, RA and henoch
- cell mediated T-cells -organ transplant rejection and contact dermatitis
what causes anaphylaxis
severe type 1 hypersensitivity
IgE stimulate masts cells to release histamine
how is anaphylaxis managed
ABCDE
IM adrenalin (repeat after 5 mins if needed)
Antihistamines (chlorphenamine, cetirizine)
Steroids (IV hydrocortisone)
how can anaphylaxis be confirmed
measuring serum mast cell trypase within 6 hrs of event
runny, blocked, itchy nose
sneezing
itchy, red, swollen eyes
personal or Fx of atopy
allergic rhinitis - IgE mediated type 1 hypersensitivity reaction
how is allergic rhinitis managed
oral antihistamines
nasal corticosteroids sprays
Nasal antihistamines
<1 yr
GI Sx : bloating, abdo pain, D&V
ALlergic Sx : urticarial rash, cough, sneezing
cow’s milk protein allergy
IgE mediated = rapid reaction within 2 hrs
non-IgE-mediated = slower, over several days
explain the gross motor of a 6mnth old, 1 yr, 18 mnth old, 2 yrs and 3 yrs
6mnth - maintain sitting position
1 yr - standing and cruising
18 mnth - squat and pick things up
2 ys - run and kick a ball
3 yrs - climb stairs one foot at a time. Tricycle
explain the fine motor of a 6mnth old, 1 yr, 18 mnth old, 2 yrs and 3 yrs
6mnth - palmar grasp
1yr - pincer grip, random scribbles
18 mnth - use a spoon, tower of 4 bricks
2 yrs - copy horizontal line, 8 brick tower
3 yrs - copies circle, build. a bridge or train
4 yrs - copies cross and square
5 yrs - copies triangle
explain the language milestones of a 6mnth old, 1 yr, 18 mnth old, 2 yrs and 3 yrs
6mnth - noises, responds to tone of voice
1 yr - single words ‘dad-da’, follows very simple instructions
18 mnths - has 5-10 words, understands nouns
2 yrs - combines 2 words
3 yrs - using basic sentences, understands adjectives
give the personal and social milestones of a 6mnth old, 1 yr, 18 mnth old, 2 yrs and 3 yrs
6mnth - curious. andengaged with ppl
1 yr - waves bye, claps hands
18 mnths - imitates activites such as using ohone
2 yrs - dry by day, extends interest to others beyond parents
3 yrs - seek out other children and play with them. Bowel control
give 7 developmental red flags
Not able to hold object at 5 mnths
not sitting unsupported at 12 mnths
not standing independently at 18 mnths
not walking independently at 2 yrs
No words at 18 mnths
no interest in others at 18 mnths
4-12 yrs
partial seizures at night
ECG : centro-termporal spikes
benign rolandic epilepsy
what is gastroschisis and its managed
-Congenital defect in the anterior abdo wall LATERAL to the umbilical cord.
-Management : vaginal delivery, take newborn to theatre within 4 hrs
what is exomphalos (omphalocoele) and its management
-Abdominal contents protrude through abdo wall but are covered by amniotic sac
-C section to protect the sac from rupture with staged repair
give 5 causes of obesity in children
GH deficiency
Hypothyroid
Down’s
Cushing’s
Prader-Willi syndrome
Neonatal hypotonia
Prader-Willi
Paediatric life support
Unresponsive ?
Shout for help
Open airway
Look, listen, feel for breathing
GIVE 5 RESCUE BREATHS
Check for circulation
15 CHEST COMPRESSIONS : 2 RESCUE BREATHS
explain chest compressions for infants and children
100-120/min
depth : lower half of sternum by at least 1/3rd of anterior-postrior dimension of chest (4/5cm)
children : lower half of sternum
infants : two-thumb encircling technique
How would an adrenal crisis in congenital adrenal hyperplasia present ?
-First few wks of life -> unwell, unconscious and shocked
-> Hyponatraemia and hyperkalaemia due to reduced aldosterone causing decreased sodium retention and decreased potassium excretion
-> Metabolic acidosis
What is aldosterone and what are its actions
Mineralocorticoid
Increases sodium reabsorption and increases potassium secretion
Released from zona glomerulosa
What is cortisol
Glucocorticoid
ALL - blood line, peak, association, blood film, FBC, sanctuary sites
B lymphocytes
2-4 yrs
Down’s syndrome
Blast cells
FBC : anaemia, leukopenia and thrombocytopenia
Testes and CNS
Hodgkin lymphoma : cause, RF, presentation, B symptoms, bloods, biopsy monitoring
Proliferation of lymphovytes
HIV, EBV
Non tender, rubbery lymphadenopathy, painful with alcohol
B Sx : fever, night sweats. and weight loss
Raised LDH
Reed-sternberg on biopsy
PET for treatment monitoring
what is seen on x-ray in duodenam atresia and what genetic condition is associated sith it
‘Double bubble’
Downs syndrome
what dysmorphic features are seen in Down’s
-Brachyceophaly
-HyPOtonia
-Single palmar crease
-Prominent epicanthic folds
-Upwards sloping palpebral fissures
-Short neck and stature and small ears
-Brushfield spots in iris
what other complications are seen in Down’s
-Deafness
-Recurrent otis media
-Increased risk of leukaemia and dementia
-Learning disability
-Delayed motor milestones
-Hypothyroid
What is the stepladder steroids in eczema
H : hydrocortisone
E : eumovate
A : betnovate
D : dermovate
