Paeds Flashcards
What are the 5 main areas of developmental milestones
- Gross motor skills
- Fine Motor skills
- Social and emotional skills
- Language and speech
- Cognitive and Intellectual
Pathophyiology of asthma
- Bronchoconstriction (smooth muscle)
- Mucosal inflammation
- Mucous plugging
Clinical features of asthma
- expiratory wheeze
- tachypnoa
- increased work of breathing
- respiratory distress
- tachycardia
Investigations for asthma
- spirometry
- reduced FEV1/FVC (<0.7)
- obstructive pattern during exacerbation
- peak flow meter
- Methacholine challenge test
- pulse oximetry
Asthma management
Asthma attack
- Administer high doses of inhaled SABA via pressurised metered dose inhaler (pMDI) with spacer or via nebuliser
* Salbutamol 100mcg, 12 separate actuations (6 is <6yo) by inhalation via pMDI with spacer. Repeat every 20 minutes for an hour OR 2.5mg by nebuliser - If not responding to salbutamol, consider ipratropium via pMDI with spacer every 20 minutes (max 3 doses in first hour)
- <5yo à Ipratropium 21mcg x 4 actuations via pMDI or 250mcg neb
- 6+ à Ipratropium 21 mcg x 8 actuations via pMDI or 500mcg neb
- Oxygen if SpO2 < 95% - nasal prongs
- Corticosteroid – oral preferred
- Try avoid in <5 yo
- 6yo+ oral à prednisolone 2mg/kg (up to 50mg)
- 6yo+ IV à hydrocortisone 4mg/kg (up to 100mg) every 6 hours for 24 hours
- Add on treatments
- IV magnesium sulfate
- IV salbutamol
- IV aminophylline
Maintenance
-
Symptom relief
* Salbutamol 100mcg, 1 to 2 actuations by inhalation via pmDI with spacer, as needed - Preventive therapy
- First line – Inhaled Corticosteroids
- Beclomethasone (pMDI) à 50-100mcg BD
- Budesonide (DPI) à 100-200mcg BD
- Then Add Montelukast or cromone
- 2-5yo à Montelukast 4mg orally, at night
- 6-14 à Montelukast 5mg orally, at night
- Then add LABA
- Do not add in < 5yo
- Fixed dose comination inhaler has both ICS + LABA
What is bronchiolitis and common causes
Inflammed bronchioles because of viral infection in children < 12 months
pahtogens
- RSV most common
- also - parainfluenza, influenza, adenovirus
Bronchiolitis - features, investigations, treatment
features
- Initially URTI symptoms
- fever, cough
- respiratory distreall
- poor feeding
- Ausc - wheez,e fine insp crackles bilateral
Inv - pulse ox
Tx
- adequate hydration
- supplement oxygen +/- ventillation
- releif of nasal congestion - humidifier, nasal saline spray, phenylephrine
what is croup, its features and the main pathogen
Inflammation of upper airway. Narrowing of subglottic region responsible for seal bark cough and stridor.
Clinically - barking cough, stridor, hoarseness and respiratory distress
Pathogen - Most commonly parainfluenza virus
Treatment of croup
Mild
- Cool mist inhalation
- Placing infant to sleep in an upright position
- Breathing cool air at night
- Dexamethasone
- Reduces airway swelling within 6 hours
- Dexamethasone 0.15 mg/kg orally, as a single dose
Moderate to severe
- Hospitalized – if presence of stridor at rest à ICU
- Inhaled nebulised adrenalin
- Reduces airway swelling, faster onset than dexamethasone
- Adrenaline 0.1% solution 5mL by inhalation via nebuliser Plus dexamethasone
- Humidified air or oxygen if necessary
- IV fluids to prevent hydration
Intubation is indicated when the airway compromise is imminent
common causes of pneumonia in children (<1m, > 1 m) and their treatment
Neonates
- GBS
- E.coli, chlamydia
Treat with Gentamycin and amoxycillin
Infants
- Strept Pneumonia
- Viral
School aged
- Viral
- S. Pneumoniae
Treat with amoxycillin if mold
for more sever - vancomycin + ceftriaxone + azithromycin (atypical)
cause of tonsillitis and pharyngitis
- Viral (75%) - rhinovirus, coronavirus, adenovirus, EBV
- GAS (S. pyogenes)
investigations and treatment for pharyngitis/ tonsillitis
Inv
- throat exam
- Rapid strept sntigen detection test
- throat culture
tx
- usually symptomatic
- salt-water gurgle
- analgesia
- hydration
- ABs - Penicillin V
complications of GAS pharyngitis
supporative
- otitis media
- tonsillopharyngeal cellulitis or abscess
- sinusitis
- necrotising fasciitis
non-supporative
- rheumatic fever
- scarlett fever
- post-strep glomerulonephritis
epiglottitis cause, why its less common now, clinical features, treatment
Caused by Haemophilus influenzae (HiB) which is now vaccinated against at 2 months
Present with difficulty breathing, drooling and appear sick
Tx - by keeping calm, intubation by experienced person, IV ceftriaxone
Pertussis cause, symptoms, investigations, prevention, treatment
Caused by bordatella pertussis
Clinically
- Catarrhal stage - URTI symptoms 1-6 weeks
- Paroxysmal stage - paroxysmal cough for 1-10 weeks
- Convalescent stage - recovery in 2-3 weeks
Investigations
- NPA - pertussis PCR
- WCC
- serology
Prevention
- Vaccination
- 2,4,6 months and 10-15y
- 3rd trimester pregnancy
- booster for contacts
Treatment
- Azithromycin - reduced infectivity not duration of symptoms
- isolation
- vaccinate at high risk contacts
- female in last month of pregnancy
- close household contacts of any child < 24 months how has not had 3 doses of pertussis
what is type 1 and type 2 resp failure and what causes each
Type 1 - hypoxaemia
- most acute resp conditions
- APO, pneumonia, pulmonary haemorrhage
Type 2 - Hypoxaemia and hypercapnia
- Drug OD
- NM disease
- chest wall abnormalities
- Asthma
- COPD
cause of transudate and exudate pleural effusion
transudate
- increased hydrostatic pressure
- Heart failure
- decreased oncotic pressure
- cirrhosis - less albumin
- nephrotic syndrome - protein in urine
exudate
- inflammation of pulmonary capillaries, leaky capillaries
- malignancy
- infection
- trauma
- inflammatory conditions
lights criteria
exudate if at least 1 of:
- Fluid protein: serum protein > 0.5
- Fluid LDH: serum LDH > 0.6
- Fluid LDS > 2/3 normall upper limit of serum LDH
treatment of pleural effusion
- Treat underlying condition e.g. loop diuretic for acute LHF or antibiotics for pneumonia or empyema drainage
- Symptomatic Tx
- Tube thoracostomy – for recurrent pleural effusions
- Video-assisted thoracoscopic surgery
Pleurodesis – for malignant effusions or ones that don’t respond to drugs
What is anaphylaxis and its symptoms
Life-threatening reaction in pre-sensitised individuals caused by immune mediators
Symptoms
- Resp - angioedema, wheeze/stridor, tingling in mouth, hoarseness
- Cardio - hypotension, LOC, dizziness, pallor, floppy
- Abdominal - pain, diarrhoea, N+V
- Skin - urticaria, erythema, angioedema
Investigations fror anaphylaxis
Skin prick test
Management of anaphylaxis
- Adrenaline - IM 1-mcg/kg, repeat in 3-5 mins if no improvement
- 0.9% saline 20mL/kg for shock
If no resolution
- persistent upper airway obstruction
- nebulised adrenaline
- consider IV adrenaline
- persistent lower airway obstruction
- neb adren or salbutamol
Ongoing
- education
- confirm trigger
- avoid allergen
- medical aalert bracelet
- epipen
Pyloric Stenosis
- what is it
- epidemiology
- symptoms and exam findings
- investigations
- treatment
- Hypertrophy of pyloric sphincter leading to narrowing of pyloric canal
- most common cause of gastric outlet obstruction in 2-12 weeks old
- Presents as non-billious vomit after feeds, poor weight gain, constipation
- Palpation of upper abdominal motile, firm mass inferior to liver edge
- investigations - U/S (diagnostic), UEC
- Tx - Fluid resusc, electrolyte replacement, pylotomyomotomy
Infantile colic
- What is it
- Causes
- Symptoms
- Investigation
- Treatment
- Paroxysmal uncontrollable crying in an otherwise healthy, well fed baby aged < 5 months
- Causes
- Food allergies, cows milk, maternal ingestion of chocolate, citrus when breasfeeding
- Parental smoking, no breastfeeding
- Flatulence
- Symptoms - crying lasting >3hrs, >3 days per week, > 3 weeks
- Inv - history, weight, height, head circ
- Ddx - otitis media, GORD, Intussusception, Pyloric stenosis, UTI
- Tx - reassurance
Coeliac
- what is it
- symptoms
- investigations
- treatment
- T-cell mediated autoimmune disease due to chronic immune reaction to gluten
- Risk factor - DQ2 or DQ8 HLA alleles, family Hx
- Symptoms - diarrhoea, malabsorption, weight loss, failure to thrive, steattorhoea, abdominal pain, iron deficiency anaemia, bloating
- Inv - Tiddue Transglutimase, Gluten challenge, Endoscopic findings in small bowel - villous blunting, elongated crypts, lymphocytes and inflammation
- Note: people on a gluten free diet prior to evaluation cannot be differentiated. must be placed back on a diet involving gluten with serological/histological tests assessed after 2-8 weeks
- Treatment - gluten free diet
Paediactric Bowel obstruction causes
SBO
- Duodenal stenosis
- Malrotation
- Meconium ileus - usually in CF
- Meconium plug
- annular pancreas
LBO
- Hirschprung disease
- rectal atresia
Both
- Intussusception
- Post-op adhesions
- abdominal hernia
Symptoms and signs of bowel obstruction in a neonate
- billious vomit (unless obstruction aboce ampulla of vater)
- delayed/ absent passage of meconium, constipation or diarrhoea
- abdominal distention
- abdominal pain - lethargy, anorexia
examination findings
- abdominal tenderness
- dehydration
- bowel sounds
- mechanical - high pitched
- ileus - absent
Intussusception
- what is it
- ca
- occurs when a section of bowel invaginates into the lumen of the immediately distal bowel resulting in infarction and gangrene of the inner bowel segment
- Infants 3-12 months
- Symptoms - colicky abdominal pain, flexing of the legs, vomiting, fever, lethargy, blood in stool, red currant jelly stool (late sign)
- Signs - RUQ mass, abdo distention, peritonism if ruptures, dehydration
- Investigations - abdo U/S best initial test (target sign or doughnut sign), contrast enema (best confirmatory test), can do abdo X-ray to assess for obstruction, perforation. FBC - assess for leukocytosis (peritonism)
- Tx - fluid resuscitation, analgesia, NBM, nasogastric decompression
- Non-surgical - air enema reduction (unless signs of peritonism or unstable)
- Surgical - reduction (shock, failed conservative, peritonism or unstable)
Appendicitis
- symptoms and signs
- investigations
- treatment
- Inflammation of the veriform appendix usually due to appendiceal luminal obstruction
- Symptoms
- epigastric pain, intermittent dull pain –> RLQ, sharp increasing severity and constant
- N + V, anorexia
- Exam - peritonism, guarding, rigidity, rebound tenderness, diminished bowel sounds on right
- causes - obstruction of appendiceal lumen by faeces, infection, lymphoid hyperplasia, neoplasm
- investigations - U/S, CT, FBC, CRP, Urinalysis, Pregnancy test
- Treatment - NPO, analgesia, fluid resusc, IV ABs (cefazolin + metronidazole), laparoscopic appendectomy
Peritonism - signs, symptoms and causes
- inflammation of the peritoneum
- Symptoms
- abdominal pain worse by moving and coughing
- rigidity - involuntary contraction of abdo muscles
- guarding
- rebound tenderness
- percussion tenderness
- Causes
- PID
- gastric perforation - ulcer, appendicitis, diverticulitis, cholecystitic
- abdominal trauma
Inguinal hernia - indirect vs direct
Indirect hernia
- most common groin hernia
- passes throughdeep inguinal ring, follows spermatic cord and may protrude into superficial ring
- lateral to inferior epigastric artery
Direct hernia
- Enters through the fascia transversalis on the posterior wall of inguinal canal in the area known as the Hasselbachs triangle
- Medial - rectus abdominus, Lateral - epigastric artery, Inferior - Inguinal ligament
- due to weak abdominal wall muscle
- more common in elderly
- medial to inferior epigastric artery
reducible, irriducible, obstructed and strangulater hernia meanings
reducible - hernia can be pushed back with manual pressure
irreducible - cannot be pushed back
- obstructed - lumen of hernia is obstructed
- strangulated - blood uspply to hernia is cut off - ischaemia3
Neonatal jaundice causes
concerning features of neonatal jaundice - appearing before 24 hours of life, or beyond 2 weeks, conjugated jaundice
Unconjugated
- Haemolytic
- Intrinsic -
- membrane conditions - spherocytosis, eliptocytosis
- enzyme conditions - G6PD
- Globin defect - thalassemia, sickle cell
- Extrinsic
- sepsis, AV malformation, infections- hepatitis, CMV, rubella
- Autoimmunity - rhesus disease, other maternal-fetal blood group incompatibility
- Intrinsic -
- Non-haemolytic
- breastmilk jaundice
- gilberts syndrome
Conjugated
- Hepatic
- Post hepatic
- biliary atresia
- bile duct obstruction
complications, investigations and treatment for neonatal jaundice
complications
- acute bilirubin encephalopathy - hypotonia, poor feeding, high pitched cry
- chronic bilirubin encephalopathy (kernicterus) - developmental delay, seizures, sensori-neural deafness, oculomotor dysfunction, cognitive impairment
Investigations
- if rhesus -ve mother
- Serum bilirubin level - repeat after 4-6 houra
- FBC
- DAT (direct antibody test - coombs)
Treatment
- Phototherapy - for unconjugated bilirubin to prevent acute bilirubin encephalopathy and kernicterus
- If rhesus isoimmunisation –> IVIG and exchange transfusion
Acute infectious gastroenteritis - causes, treatment
- Diarrhoea, V+V, fever, generally unwell, crampy abdominal pain, dehydration
- causes
- viral - norovirus, rotovirus
- parasitic - emramoeba histolytica, giardia lamblia
- bacterial - e.coli, salmonella, shigella, campylobacter jejuni
- diagnosis - clinical, can do stool culture
- treatment - Fluid and electrolyte replacement, if bacterial can give antibiotics, but usually viral so dont
Oesophageal atresia, tracheo-oesophaeal fistula
- types
- symptoms
- investigation
- treatment
Oesophageal atresia - congenital condition in which the oesophagus is not fully developed ending in a blinding pouch rather than stomach
Tracheo-oesophageal fistula - congenital condition between the oesophagus and trachea
Types
- Type A - pure oeophageal atresia
- Type B - proximal fistula with atresia
- Type c - proximal atresia with distal fistula
- Type D - proximal and distal fistula
- Type H - fistula without atresia
Symptoms
- Prenatal - oligohydramnios
- Post natal - feeding difficulties, respiratory distress, choking, recurrent RTIs
Diagnosis
- inability to pass NG tube
- barium swallow for H type
Treatment
- surgical repair
*
Hirschprung’s disease
- birth defect in which nerve are absent in part og the intestine resultingi n functional obstruction (absence of ganglion cells)
- Types - typically recto-sigmoid (75%), long segment (25%)
- Risk factors - down’s syndrome, genetic, male
- symptoms - vomiting, abdo distention, delayed passage of meconium, enterocolitis, failure to thrive
- investigations - contrast enema, AXR, rectal biopsy (diagnostic)
- Tx - NGT, IV fluids, ABs prior to surgery, surgery
What is lower UTI, Cystitis and Pyelonephritis
Lower UTI = infection of the bladder and the lower urinary tract
Cystitis = infection of the bladder
Pyelonephritis = infection of the parenchema and collecting system of the kidney
Urine dipstick findings in UTI
Positive nitrate and leukocyte esterase indicates high likelihood of uti
- Cloudy - pyuria
- Haematuria +
- Leucocytes +++
- Proteinuria +
- Nitrites (Nitrates convertet to nitrites with come bacteria (E.coli)
- Alkaline (urea splitting organisms)
Treatment of UTIs for children (<3 months and > 3 months) and what investigation would you book for recurrent UTIs
- < 3 months –> IV amoxicillin and gentamycin
- > 3 months
- well –> Augmentin Duo
- unwell –> IV amoxicillin and gentamycin
If recurrent UTIs - book a renal U/S
What is vesico-ureteric reflux?
retrograde passage of urine from the bladder to the upper urinary tract
Primary = incompetent closure of the uretovesical junction
Secondary = results from abnormal high voiding pressure in the bladder that leads to failure of the uterovesical junction
Grades of ureto-vesicular reflux
- Grade 1 = reflux only fills the ureter without dilation
- Grade 2 =reflux fills the ureter and collecting system without dilation
- Grade 3 =reflux fills and midly dilates the ureter and collecting system
- Grade 4 = reflux fills and grossly dilates the ureter and collecting system with blunting of the calices (some totuosity of the ureter is also present)
- Grade 5 = massive reflux grossly dilates the collecting system. all the calices are blunted with a loss of papillary impression and intrarenal reflux may be present
symptoms, investigations and treatment of vesico-ureteric reflux
symptoms = recurrent UTIs
Investigations = abdominal U/S (ureteral dilation or hydronephrosis), cystography
treatment
- Grade I-II = surveillance, antibiotic prophylaxis to prevent UTIs, surgical correction if it doesnt correct by itself
- grade III-V antibiotic prophylaxis and surgical correction
Testicular torsion definition, symptoms, examination, diagnostics, treatment, rate of success
Definition: Twisting of the spermatic cord resulting in cutting off the testicular blood supply resulting in ischaemia and gangrene if not resolves. most common in adolescents and neonatal period
Symptom: Rapid onset of severe testicular pain, N+V, swelling
Examination: Swollen, tender, high riding, abnormal trasverse lie, absent cremaster reflex, Prehn’s sign negative *listing of the testis will not releive pain*
Diagnosis: Clinical - refer straight ot surgeons
Treatment: Surgical emergency
Complications: 6 hours - 90% saved, 12 hours 50% save, 24 hours 10% saved, > 24 hours 0%
Symptoms, causes and treatment of epididymo-orchitis
Symptom:
- Orchitis = gradual onset testicular pain, testicular swelling and inflammation, haematuria, haematospermia
- Epididymitis = gradual onset scrotal pain, swelling, dysuria, urethral discharge
causes = chlamydia or gonorrhoea, UTI
Treatment = antibiotics
Cryptochidism definition, risk factors, treatment
When one or both testes are not present within the dependent portion of the scrotal sac.
(Ascended testes: testes that were previously noted to be in the normal position but later ascended into the high portion of the scrotum or inguinal canal)
risk factors: family history, prematurity, low birth weight
treatment - surgery at 12-18 months to place testes into the dependant scrotum then requires annual follow up to determine location, viability and ize
complications - lack of intervention associated with increased with of testicular cancer and infertility
Torsion of the testicular appendage
A hydatid of Morgagni is an embryological remnant found in the upper pole of the testis. torsion of this appendage can occur characteristically in boys just prior to puberty
Symptoms: testicular pain, swelling
Examination: blue dot may be seen or felt in the testis, reactive hyrocele in 20%, cremaster reflex intact
Diagnosis: surgical exploration
Treatment: surgical interention to exclude testicular torsion, conservative management otherwise - pain usually resolvesi n a week
varicocele definition, examination, treatment
Abnormal dilation of the pampiniform plexus and the internal spermatic vein (90% left sided)
Examination: bag of worms appearance, not transilluminable, do valsalver manouvre to check grade, check to see that it drains
Treatment: usually no treatment, can do surgical repair, also semen analysis if concerned about fertility
Post infecitous glomerulonephritis definition, investigaiton, treatment
Definition:
- Usually occurs in children 6/52 post impetigo or 1-2/52 post throat infection
- Post infection by group A beta-haemolytic strept (GAS)
- immune complex deposition in glomerulus
Symptoms - haematuria, proteinuria, oliguria
Investigations
- Anti-streptolysin O test to prove strep infection
Treatment: usually supportive, 90% of kids okay, 1/4 adults develop rapidly progressive glomerulonephritis
Hydrocele definition, examination and treatment
collection of fluid between the layers of the tunica vaginalis surrounding the testis or along the spermatic cord
Symptoms and examination: Scrotal mass, non tender, transillumination, enlarged with increased intraabdominal pressure
treatment
- < 2 = observation
- > 2 = surgical repair - ligation of the sac at the inguinal ring
Epidydimal cyst (spermatocele)
- examination and treatment
painless fluid filled cyst that occurs in the epididymis, fluid contain spermatozoa
Examination - smooth firm lump at top of testis, non tender, transilluminable
can request U/S rule out testicular cancer
Treatment - nil if small, spermatocelectomy if large
- hydrocele
- varicocele
- spermatocele
- torsion
- inguinal hernia
- epididymitis
Haemolytic Uraemic Syndrome
Characterised by:
- Microangiopahtic haemolytic anaemia
- Thrombocytopenia
- Acute Kidney Injury
Causes
- Infection producing the Shiga-like toxin
- enterohaemorrhagic E.coli
- Shigella dysenteriae
- also strept pneumoniae
Symptoms
- diarrhoea, preceding pneumonia, bloody diarrhoea, oliguira, haematuria
- haemolytic anaemia, thrombocytopenia, AKI
Investigations
- FBC - decreased RBC, thrombocytopenia
- Blood smeear - shistocytes (fragmented RBC indicating thrombotic microangiopathy)
- Renal function - raised creatinine
- Urinalysis - proteinuria, haematuria
- stool culture
- coagulation profile
Treatment
- fluid resus
- red cell transfusion if severe
Status epilepticus definition and treatment
tonic clonic seizure lasting > 30 minutes or repeated tonic clonic consultation over a 30 minute period with no period of recovery of consciousness between
Treatment for seizure
Midazolam buccal, IM, IV…
Status epilepticus
IV, if not IV then try IM then IO
Midazolam or diazepam, repeat dose after minutes
Febrile convulsion - do they require investigaitons or treatment?
benign convulsion in a child between the age of 6 months and 6 years in the setting of acute febrile illness without previous afebrile seizure.
Investigations not usually required
Treatment: reassurance, anti-convulsant if prolonged. Paracetamol has not been shown to reduce risk of further convulsions.
Meningitis -cause, symptoms, exam, diagnosis, treatment
Causes
bacterial
- < 3 months - GBS, strep pneumoniae, neisseria meningitidis
- Paediatric = Neisseria meningitidis, streptococcus pneumoniae, HiB
- Adult = S. pneumoniae, N meningitidis, HiB
viral
- enteroviruses,HSV
- Parasitic - cryptococcal neoformans, schistosoma
symptoms
- triad - fever, nick stiffness, headache
- Children - irritable, feeding difficulty, rash, N+V, photophobia
Examination
- rash - petechial or purpura non-blanching (meningococcal meningitis)
- nuchal rigidity - passively flex neck
- brudzinski sign - spontaneous flexion of hipduring attempt to passively flex neck
- kernig sign - inability to allow full extension of knee when hip is flexed at 90
Diagnosis - Lumbar puncture (before ABs) —> CSF microscopy, culture, protein, glucose, lactate, NAAT
- bacterial - raised neutrophils, lowered/ normal glucose
- viral - low neutrophils, lymphocytes high or normal, normal glucose
Treatment
- IV dexamethasone
- Antibiotics
Empirical
- < 1 month - cefotaxime + benzylpenicillin + acyclovir
- > 1 month - ceftriaxone + vancomycin
Focused
- benzylpenicillin - Neisseria meningitidis
- Vanc and cefotaxime for penicillin resistant S. pneumoniae
cerebral palsy definition. causes, classification, symptoms, treatment
Umbrella term that refers to a group of disorders that affect movement, tone and posture due to damage to the developing brain during the antenatal or early post-natal period when neuronal connections are still forming
Causes
- antenatal (75%)- prem, maternal thyroid disease, TORCH infection, teratogen
- Perinatal - birth asphyxia (10%), placental abruption, prolonged labour
- Postnatal - sepsis, hyperbilirubinaemia, respiratory distress, meningitis, head injury
Classificaiton
- spastic (motor cortex, loss of inhib GABA) - stiff muscles, hyperreflexia, hypertonia
- dyskinesia (basal ganglia) - involuntary stereotyped movements with varying muscle tone
- ataxia (cerebellar) - loss of motor coordination
- mixed
Symptoms - muscle symptoms, pain from tight muscles, abnormal posture, learning difficulties, speech difficulties, vision problems
Treatment - rehab, physio, OT, speech therapist, adaptive equiptment
Spina bifida definition, risk factors, symptoms, diagnosis, treatment, prevention
Failure of the neural tube to close posteriorly resulting in incomplete closure of the spine and membranes around the spinal cord. Exposure to the amniotic fluid causes irreversible damage to the spinal cord. Can affect th brain or SC at any level but most commonly affects the lumbosacral region.
Note: neural tube defect during the first 4 weeks of embryogenesis.
Risk factors: Folate (Vit. B9) deficiency, medications that interfere with folate metabolism (anti-convulsants)
Symptoms - hair, dimple, birth mark above site lesion, loss of sensation, paralysis, bladder and bowel dysfuntion, leg/foot deformities
Diagnosis: Antenatal screening - U/S, triple screen (alpha-fetal protein, hCG and uE3)
Treatment = neurosurgery to repair defect
Prevention - folic acid supplementation (elevit), (folate added to flower)
Hyrdocephalus Definition, types, causes
Excessive amount of CSF accumulating within the cerebral ventricles and/ or subarachnoid space resulting in ventricular dilation and increased ICP (imbalance between CSF produced by choroid plexus and reabsorbtion)
Note: Choroid plexus produces CSF –> ventricles –> ubarachnoid space –> arachnoid villi –> systemic circulation
Types
- Non-communicating - blockage in the ventricular system –> inadequate drainage
- Communicating - impared absorption in the subarachnoid space or rarely due to increased production
- Normal pressure hydrocephalus - cerebral ventricles are pathalogically enlarged but ICP not elevated (seen in elderly)
- Ventriculomegaly - enlargement of the ventricles seen on neuroimaging
- Hydrocephalus Ex-vacuo - enlargment of the CSF spaces caused by reduced brain volume due to atrophy
- Benign external hydrocephaus - benign enlargment of the subarachnoid space
Causes
- Congenital CNS malformation
- Teratogens
- Neural tube defect
- intra uterine infection - rubella, CMV, syphilis, siza
- choroid plexus papilloma or carcinoma
- Intraventriculr haemorrhage
- CNS infection - meningitis, mumps, encephalitis
T1DM
- What is the pathophysiology of decreased insulin
- symptoms
- investigations
- treatment
- complications
Autoimmune disease characterised by the destruction of B cells and an absolute deficiency of insulin.
Pathophys:
Decreased Insulin leads to:
- Hyperglycaemia as glucose cant get into the tissues
- Glyconeogenesis in the liver as glucagon is uninhibited
- ketogenesis from AA breakdon
- Increased lipolysis and FFA in blood
- Glycosuria and polyuria
Symptoms
- polyuria, polydipsia
- unexplained weight loss
- abdominal pain
- blurred vision
- Nausea
Diagnosis
High BSL
- Fasting BSL > 7mmol/L
- Glucose Tolerance test: 1hr >7, 2hrs > 11.1
- HbA1c > 6.5%
Autoantibodies (to distinguish between T2DM)
- Anti-GAD antibodies
- Anti-tyrosine-phosphate related islet antigen
- Islet cell surface antibody
C peptide
- Increased C peptide –> may indicate insulin resistance –> T2DM
- Decreased C peptide –> absolute deficiency –> T1DM
Urinalysis
- glycosuria, microalbuminuria (early signs of diabetic nephropathy), ketones (Up in DKA)
Treatment
- Gylcaemic control - BSL monitoring
- Insulin (basal-bolus or pump)
- Diet and exercise
Complications
- Hypoglycaemia
- hyperglycaemia, DKA
- Microvascular (retinopathy, nephropathy, neuropathy)
- Macrovascular (Stroke, AMI)
- Infections
DKA symptoms. examination,cause, investigation, treatment
Hyperglycaemia + Ketosis + acidosis
Symptoms - fatigue, N+V, polyuria, polydipsia, polyphagia, dehydration, abdominal pain, acetone breath, decreased consciousness, coma
examinaiton - dry MM, decreased skin turgor, tachycardia, raised RR, hypotension, abdominal tenderness, metabolic acidosis
Causes
- not taking insulin, inadequate dosage
- infection, drinking alcohol
Invesitgations
- BSL - hyperglycaemia
- Ketones - blood and urine
- ABG - metabolic acidosis - Decreased pH,pCO2, Bicarb, Increased pO2, Anion gap, K+ can be up or down
- Urine Dipstick testing
- Serum electrolytes
Treatment
- Fluids #1 priority
- Insulin
- K+ if K+ deficiency
- monitor electolytes
- correct acid=base imbalance
Hypoglycaemia symptoms, causes, treatment
Reduction in plasma glucose concentration to a level that can induce signs and symptoms (<4mmol/L). Levels where the patient is symptomatic depend on the patient.
Symptoms: Autonomic activation —> Dizziness, sweating, tremor, tahcycardia, palpitations, confusion, coma, seizures
Cause: fasting, insulin OD, infection, drugs (salicylates), ETOH, endocrine causes
Treament
- glucose oral gel, sugar, follow up with carbohydrates
- IV dextrose
- IM glucagon
- Insulin inhibitors (diazoxide, octreotide)
Cystic Fibrosis definition, pathyphys, symptoms, exam, investigations, treatment
Definition and Pathophys:
- Autosomal recessive, multisystem disease caused by mutation in the CFTR protein resulting alterations to chloride channels across epithelial surfaces.
- Cl- cant be effectively transported across membrane
- Cl- is used to draw water across diluting the secretion hence secretions become thick
- deltaF508 mutation most common out of thousands
Symptoms
- Neonate –> meconium ileus
- Pancreatic insufficiency (thick secretions block pancreatic duct, pancreatic enzymes cant be released)
- steatorrhoea, failure to thrive, malabsorption
- Pancreatic damage (enzymes degrade cells of pancreatic duct over time, leading to pancreatitis)
- Endocrine dysfunction
- Insulin deficient diabetes
- Respiratory in later childhood
- thick mucus secretions in airway
- impaired mucociliary action
- bacterial colonisation, recurrent infections
- bronchiectasis
Examination
- clubbing, malnutrition, nasal polyps, increased antero-posterior chest diametes, crackles upon auscultation, infertility in men - lack a vas deferens
Screening
- Heel prick test - serum immunoreactive trypsinogen
Diagnostic
- Sweat test - Cl cant be reabsorbed into sweat, extra salty (>60mmol/L). Patient hould be > 2 weeks
- Prenatally - DNA analysis (If both parents are carriers) collected from choronic villus sampling or amniocentesis. *Can also do a DNA assay postnatally if the sweat test is inconclusive .
Monitoring
- Pulmonary function tests
- Annual Bronchoscopy < 6 years (unable to cough), CT, sputum culture
Treatment
- Respiratory
- Chest physiotherapy
- Short acting bronchodilator
- Mucolytics (N-acetylcysteine)
- Antibiotics in exacerbation
- Last resort - transplant
- Hypertonic saline nebulisation
- Pancreatic insufficiency
- Enzyme replacement (Creon)
- Fat soluble vitamin replacement (ADEK)
- Diet
- Additional sodium chloride intake
- high energy diet to compensate for high demand
- CFTR modulators - These drugs modulate the expression of the defective CFTR protein by improving the production, intracellular processing, and function of the defective protein (Ivacaftor)
Down Syndrome definition, risk factors, clinical features, screening, associated medical conditions
Trisomy 21, most common form of genetic intellectual disibility with associated physical features and medical conditions
Risk factors: increased maternal age, other children with Down syndrome, parental karyotype with translocation
Clinical features
- Global developmental delay
- Hypotonia, Poor Moro reflex
- Hyper-flexibility
- extra skin on back of neck
- fat facial profile
- upward sloping eyes, skin fold that covers inner corner of eye
- brushfield spot on eyes (white spot)
- low nasal bridge with small nares
- small low set ears
- single palmar transvere creases
- deep groove between first and second toe
- protruding tongue
Screening
- combined first trimest screening (high false positive rate) - combination of US and maternal biochemistry (B-hCG, PAPP-A)
- Non-invasive prenatal testing (detects free fetal DNA in maternal blood) Not available through medicare $400
Post natal - Karyotyping and genetic evaluation
Associated medical conditions
- congenital heart disease (50%)
- hearing loss and visual issues
- duodenal or anal atresia or stenosis
- thyroid issues
Scoliosis types, causes, treatment
Sideways curvature of the spine, usually S or C shaped
Types
- Adolescent idiopathic sclerosis (10-18yo)
- Juvenile idiopathic scoliosis (3-10yo)
90% require surgical intervention - Infantile Idiopathic scoliosis (<3yo)
90% resolve spontaneously
Causes
- Neuromuscular scoliosis
- muscular dystrophy, spinal musculr atrophy, poliomyelitis, myonitis
- Syndromic sclosiosis
- Arnold-Chari malformation
- Charcot-Marie-Tooth disease, cerebral palsy, CT disroders (Ehlers-Danlos, Marfancs),
- Congenital scoliois
Screening: Adams bend forward test
Diagnostics:
- X-ray
Tx - refer to specialist, bracing, exercises
muscular dystrophy 2 main types
Inherited group of progressive myopathic disorders resulting from mutations in the dystrophin gene resulting in on going degeneration and regeneration of muscle fibres and weakness as the primary symptom
Types
- Duchene MD
- most severe
- X-linked recessive trait
- delayed motor milstones - wlaking > 18 months, toe walking (heel contractures), difficulty jumping, uses arms to stand)
- Gait - hyperlordosis, wide based, unstabl
- symptomsusually present by age 4
- lethal
- Diagnostics - serum CK elevated, genetic test
- becker MD
- similar presentation but later and milder clinical course
- less severe, rarely fatal
Fetal Alcohol Syndrome Disorders (FASD) types, symptoms, criteria, medical complications
A spectrum of disorders that includes multiple disorders and syndrome associated with maternal alcohol consumption
Types
- Fetal Alcohol Syndrome (most severe)
- Partial Fetal Alcohol syndrome (dont meet full criteria of FAS)
- Alcohol related neurodevelopmental disorder (PFAS subtype)
- Alcoholrelated birth defect (PFAS subtype)
Clinical
- Height and weight < 10th percentile
- Microencephaly
- Facial dysmorphology
- smooth philtrum
- thin upper lip flat midface
- small palpebral fissure
- large ears
Medical conditions
- congenital cardiac abnormalities
- MSK - flexion contractures, scoliosis
- renal - aplasia, dysplasia, hypoplasia, hydronephrosis
- ocular- strabsmus, retinal vascular problems, refractive problems
Criteria
- confirmed or unconfirmed maternal alcohol exposure
- facial features
- growth retardation
- CNS neudodevelopmental abnormalities
Chromosomal abnormalities
- Kleinfelder syndrome
- Turner syndrome
- XYY syndrome
Kleinfelder Syndrome (47, XXY or 48 XXXY)
- hypogonadism, delayed puberty, tall stature, sterile
Turner Syndrome (45, X0)
- short stature, webbed neck, low set ears, delayed or absent puberty, sterile
Rheumatic Fever criteria, investigations, treatment
Systemic infection that develips 2-4/12 post group A streptococcal (GAS) Beta-haemolytic streptococcal, strept pyogenes
Exam: MR or MS, AR or AS, prolonged PR interval
Diagnosis - JONES CRITERIA
2 major or 1 major and 2 minor plus evidence of preceding GAS infection
- Major - Joint arthritis, Pancarditis, Nodules subcutaneous, Erythema marginatum, Sydenham Chorea
- Major - fever, raised ESR or CRP, monoarthralia, prolonged PR interval
Investigations
- ECG, CXR, Echo, CPR/ ESR, Cultures, Anti-streptolysin O test (prev GAS inf.)
Treatment
- Penicillin (even though GAS gone) - monthly for minimum 10 years or until 21yo
- Steroids life severe
- NSAIDs for arthritis
- Valve repaire
- Notifibale disease
Malaria what causes it?, symptoms, exam, diagnosis, treatment, prevention
Parasitic infection caused by Plasmodium. Types - P. Falciparum, P. vivax, P. Ovale
Symptoms - travel, fever, headache, anorexia, N+V, diarrhoea, abdo pain
Exam - hepatosplenomegaly, pallor, jaundice
Diagnosis - FBC (anaemia), Blood smear thick and thin
Treatment - Chloroquine
Prevention
- Chloroquine
- Doxycycline in cloroquine resistant areas
Varicella transmission, prevention, symptoms, treatment
Primary infection with varicella zoster virus. Can establish latency in the dorsal nerve root gangioa and reactivate as shingles.
Transmission
- Droplet or direct contact transmission
- Incubation period 13-17 days (28 in vaccinated ppl)
- Infective 2 days before rash and until vesibles have been crusted
- infection rate up to 90% with household contacts
Prevention
- Vaccination at 18 months
Symptoms
- vesicular and pruritic rash
- fever, anorexia nad lethargy
Investigaitons - Clinical Diagnosis (PCR or skin lesion cab be used for Dx in unwell or when Dx is unclear. serology not recommended unless pregnany)
Treatment
- Isolate
- in high risk patients - can give zoster immunoglobulin
Measles stages of symptoms, treatment
Caused by measles virus. Vaccine available.
Stages
- Incubation perio 6-20 days
- Prodrome (2-4 days) - fever, malaise, anorexia, conjuncitivitis, coryzal symptoms, cough, Koplik spots (white spots surrounded by erythema)
- Exanthem - (2-4 days post fever) - maculopapular rash, lymphadenopathy, clinical improvment 2 days after rash
Investigations
- Measles autoantibodies (IgM and IgG) - pesist for month after rash, come up 1-2 post rash
- PCR
Treatment - isolation and supportive, notifibale disease
Rubella clinically, and congenital rubella syndrome
Rubella virus –> mild, self limiting illness that is often asymptomatic but can cause multiple foetal issues if acquired in pregnancy
Clinically - maculopapular rash, lymphadenopathy
Diagnosis - anti-rubella IgM detected at onset of clinical illnes, IgG, viral culture or NAAT
Treatment - supportive, if pregnant - refer to specialist, possible immunoglobulin
Congenital rubella syndrome
- sensorineural deafness
- eye abnormalities - retinopathy, cataracts
- congenital heart disease
Can result in spontaneous abortion
Mumps what is it, symptoms , investigaitons, treatment
Viral illness causing inflammation and swelling of one or both parotids
Prevention - MMR vaccine
Symptoms - swelling of parotid, painful swelling, prodrome - low grade fever, malaise, headahce, myalgia, anorexia
Investigations - PCR saliva, serolofy 7-17 days after symptoms onset
Treamtnet - symptomatic usually self limiting in 1-2 weeks
Roseola Infantum - what cuases, symptoms, treatment
Sixth disease - common viral infection causing temperature and rash in children
Epidemiology - common between 6-24 months (95% of children seropositive by 2 years)
Infection - HHV 6 or 7, respiratory tranmission
Symptoms - high fever (3-5 days before rash), rash is maculopapular on trunk, neck and proximal extremities
Clinical diagnosis
Treatment - antipyretics, oral rehydration
Hand foot and mouth disease cause, symptoms, treatment
Common viral infection characterised by low grade fever, oral ulcers and vesicles/ rash on the hands and feet.
Caused by the coxsackie virus.
Symptom
- low grade fever
- painful oral ulcers
- small oval white blisters or vesicles on palms of hands and soles of feet
- sore mouth and throat –> leads to dehydration
- red skin rash with brown scales
- not itchy
treatment
- analgesia so they eat
- rehydration
- self limiting - 10-14 days
Scabies what causes it and treatment
Causes by sarcoptes scaniei, a mite that burrows through the stratum corneum. transmitted by skin to skin contact. Causes an itch and rash - erythematout papules, linear burrows.
treatment - topical permethrin or oral ivermectin
- Acute Otitis Media
- Otitis media with effusion
- Chronic suppurative otitis media
definitions, causes, treatment, complicaitons
Definition
- acute otitis media - infection with abrupt onset that usually presents with pain
- Otitis media with effusion (glue ear) - non-infective fluid accumulation in the middle ear and mastoid air cells due to negative pressure produced by the eustachian tube
- chronic suppurative otitis media - middle ear infection > 6 weeks with discharge through a perforated tympanic membrane
- chronic serous otitis media - middle ear infection > 6 weeks with no perforation
Causes
- strept pneumoniae (40%)
- Haemophilus influenzae (30%)
- Moraxella Catarrhalis (10%)
Treatment
- AOM - many resolve within 72 hours
- analgesia - paracetamol or NSAIDs
- ABs shorten duration by < 1 day and dont decrease rate of complicaitons or reccurence
- use antibiotics if symptoms persist beyon 48 hours, in high risk or more severe cases
- Amoxycillin 5 days oral
- Glue ear - watch and wait for 3/12, then trial 4 weeks of ABs. Grommets in the case of hearing loss or persistence
- Chronic suppurative OM - topical ciprofloxacin, ear toilet (betadine or tissue spear), refer to ENT
complications
- perforated eardrum
- mastoiditis
- recurrent infection
- hearing problems
- febrile convulsion
- VII cranial nerve palsy
Perforated tympanic membrane causes and treatment
causes
- infection
- trauma
- excessive water pressure (overpressure)
- improper attempt to clean ears
treatment
- topical ABs - ciprofloxacin 2/52
- dry ear toilet with tissue spears
- ear toilet using betadine solution via syringe
Otitis externa (swimmers ear) causes, risk factors, symptoms, treatment
Inflammation of the external ear canal
Causes: Pseudomonas aeruginosa, staph aureus, aspergillosis
Risk factors - humid environment, external auditory obstruction, warm temp, swimming, local trauma, skin disease, diabetes
Symptoms - ear pain - otalgia, ear tenderness, ear itching, hearing loss
Investigations
- auroscope to exclude otitis media
treatment
- analgesia
- cleaning of ear
- topical ciprofloxacin
- topical hydrocortisone to control itching and inflammaiton
Cholesteatoma what is it it? symptoms investigations and treatment
Accumulation of keratinising squamous epithelium whithin the middle ear. is a benign growth but may enlarge and involve adjacent bone.
Symptoms - hearing loss, tinnitus, malodorous discharge often refractive to ABs, otalgia, vertigo
Exam - discharge, crust or ketarin seen
Investigations - otoscopy and CT
Treatment - refer to ENT, surgical removal and adjunct antibiotics
Impacted earwax symptoms and treatment
Cerumen impaction diagnosed when accumulation results in symptoms.
Symptoms - hearing loss, fullness, otorrhoea, tinnitus
Treatment - manual removal, irrigation, cerumenolytic agents
Legg-Calve-Perths Disease what is it? epidemiology, symptoms, investigations, treatment
Avascular necrosis of the femoral head resulting from compromise of the blood supply to the area
Epidemiology - usually 4-8 years, can range from 2-12 years. most common cause of limp in 4-10yo
Symptoms
- Limp (abductor lurch) often worse post exertion and initially painless
- milkd or intermittent pain in anterior thigh may refer to knee
- pain with passive movement - internal rotation and abduction
- trendelenburg sing - muscle wasting
- limited ROM
Investigations
- X-ray
Treatment
- Children less than 6 be conservative, consider brace
- surgical - femoral osteotomy
Developmental dysplasia of the hips risk factors, screening, symptoms, treatment
Aberrant development of the acetabulum resulting in the abrnormal development of the hip joint.
Risk factors
- female
- breech position
- Family history
- less space (oligohydramnios, twins)
- disease of ligamentous laxity (Ehlers Danlos)
Screening
- Barlows - flex femur to 90 degs then push down
- Ortolani - abduct and leaver hip forward
- if risk factors - U/S at 6 weeks
Symptoms
- instability subluxation
- stiffness and limited abduction if hip out of place for extended period
- dislocaiton prolonged –> hortening of affected leg
- walking - short leg gait, trendelenburg gait (limp created by weakness of abduction)
- trendelenburg sign
- painless limp
- hyperlordotic
Treatment
- < 6 months
- hip dysplasia - pelvic harness to ensure optimum development
- Hip discloation - pavlick harness, ridged splinting, closed reduction
- 18m-6 years - open reduction and spica cast
- > 6 years - little pottential for remodelling
Slipped capital femoral epiphysis symptoms, x-ray, treatment
Occurs when weakness in the proximal femoral growth plate allows displacement capital femoral head.
Epidemiology - most common hip disorder in adolescents
Symptoms
- hip pain - may refer to medial knee, thigh, groin
- limp
- trendelenburg positive
- reduced internal rotation
X-ray - widened growth plate, displaced posteriorly and inferiorly
Treatment - screw fixation
Transient synovitis of the hip what is it? investigations, treatment
self limiting inflammatory disorder of the hip that commonly affects children. most common cause of acute hip pain and limp in 2-12yo.
Clinical - hip resting in abduction and external rotation, decreased ROM
Investigations
- x-ray usually normal
- US - effusion common
- MRI - evaluaiton of disorder
Treatment - rest and NSAIDs usually resolves within 7-10 days
Talipes Equinovarus (Clubfoot) what is it, risk factors, treatment
Congenital defect in which the foot is fixed in adduction, Supination and varus
Risk factors: Family History, male, restricted growth (oligohydramnios, malpresentation, multiple gestation)
Treatment
- Ponseti method - serial bracing and casting (foot progressively moved into an improved position)
- Achilles tenotomy - achilles tendon may be legnthened and then braces worn untul age 4
Septic Arthritis symptoms, pathogens, investigations and treatment
Invasion of the joint by an infectious agent resulting in joint inflammation and rapidly progressive joint destruction
Symptoms - fever, acute pain, impaired ROM, erythema, warm, swollen
Cause
- neisseria gonorrhoea
- staph aureus
- S viridans, S pneumoniae
Risk factors: prosthetic joint, recent joint surgery, immunosuppression, diabetes, trauma, IVDU, RA
Investigation
- aspiration and culture
- Synovial fluid - turbid, raised WCC < 50,000, +++ leuks, bacteria present
- U/S
- Raised CRP, WCC
- blood culture
treatment
- drainage of infected fluid
- emperical and targeted antibiotics - vancomycin and ceftriaxone
- analgesia
Rickets
Osteopenia - defective mineralisation of bone matrix occuring in children
Rickets - defective mineralisation at the growth plates resulting in deformity of the bone structure occuring in children whos growth plates have not yet fused
Causes
- Vitamin D deficiency - sunlight def, dietary, exlcusively breastfed
- calcium deficiency or phorphorus
Symptoms
- poor growth
- skeletal deformities (Bowed legs, knocked knees)
- Sx of nutrient deficiency
- delayed closure of fontanelles
- Harrisons sulcus of thorax
Investigations
- Serum Ca, Phosphate
- Calcitriol (active form of vitamin D)
- Urine calcium
- Alkaline phosphate
- PTH
- X-ray
Treatment - supplements
Causes of a limp in child
Ortho
- Legg-Calves-Perthes Disease
- Transient Synovitis
- Slipped Capital Femoral Epiphysis
- Osgood-Schlatter disease
- spondylosis
- Leg legnth discrepency
Infection
- Septic arthritis
- osteomyelitis
Rheumatology
- Juvenile Idiopathic arthritis
Neurological
- Cerebral palsy
- cerebellar ataxia
- spina bifida
- charcot-marie tooth
Muscular
- trauma
- muscular dystrophy
- myositis
Neoplasia
- osteosarcoma
- leukaemia
Metabolic
- Rickets, osteomalacia
Other - poor footwear
Wilm’s tumour: Nephroblastoma, epidemiology, symptoms, investigations, treatment
Malignant renal tumour common in paediatrics
- 2-5 years, most common paediatric renal tumour
Symptoms
- unilateral upper abdominal flank pain
- unilateral upper upper abdominal/ flank mass - ballotable, smooth, firm to tough, non-tender
- pallow, fatigue
- haematuria
- anorexia
Investigation
- Renal function tests
- LFTs
- FBC
- Urinalysis
- serum protein/ albumin
- coagulation studies
- abdominal U/S
- CT abdo + pelvis
Treatment - nephrectomy, chemo, radiotherapy
Retinoblastoma what is it, epidemiology, symptoms and exam, investigations, prognosis
Malignant cancer that develops from the immature retinal cells. most common intraocular malignancy in children - most commonly < 3yrs
Symptoms
- visual changes
- pseudo-orbital cellulitis with periorbital oedema
- strabismus (crossed or deviated eye)
- ocular pain rare
Clinical
- Leukocoria (White papillary light reflex)
- retinal detachment
Investigations
- Fundoscopy
- Opthalmic U/S
- CT+MRI staging
- genetic testing - RB1 mutation
*Dont perform biopsy - risk of seeding
Tx - chemo, focal laser cryotherapy
Prognosis - 10yr survival 99%
Osteosarcoma epid, symptoms, inv, tx, prog
Primary malignant tumour of bone that are characterized by the production of osteoid or immature bone by the malignant cells.
Epid: Most common non-haem primary malignany in bone in paeds. 13-16yo. Distal femur most commonly affected.
Symptoms
- Bone pain - deep, dull and unremitting, can be worse at night and may wax and wane over time
- limp
- swelling
- bone mass - tender to palpate
- limited ROM in joint
investigations
- Alkaline phosphate up
- LDH up
- X-ray - disruption of normal trabecular bone pattern, medullary and cortical destruction, moth eaten appearance, periosteal reaction, codemans triangle
- CT
- PET scan
- Bone scan
Treatment - wide surgical resection and reconstruction
Prognosis - 15% of people have malignant disease at presentation. 75% 5 year survival rate.
Acute lymphocytic leukaemia (ALL) what is it, epid, symptoms, inv, tx, prog
A malignant clonal disease that develops when a lymphoid progenitor cell becomes genetically altered through somatic changes and undergoes uncontrolled proliferation.
Leukaemia - group of cancers that begin in the bone marrow and result in high numbers of abnormal white cells. these white blood cells are not fullydeveloped and are called blast cells.
Epid - most common type of leukaemia in children
Symptoms
- fever, fatigue, dyspnoea, dizziness, pallor
- bleeding, bruising
- recurrent infections
- hepatosplenomegaly (blasts in spleen)
- lymphadenopahy
- mediastinal mass
- bone pain - worse at night
Positive symptoms - no WCC leads to infection, no RBCs - anaemia, No platelets - bleeding
Investigations
- FBC - anaemia, thrombocytopenia, WCC can be anything
- peripheral blood smear - presence of blasts
- coagulation profile - rule out DIC
- LDH raised - high cell turnover
- UEC
- Serum uric acid
- Diagnosis - Bone marrow biopsy - presnce of blast cells
- ALL –> > 20% lymphoblast cells
- AML –>> 20% myeloblast cells
- CXR - exclude mediastinal mass
Tx - chemo, bone marrow transplant,
manage associated issues
- Infection - prophylactic antbiotics and antifungals
- FLuid therapy prevents uric acid formation
- manage thrombocytopenia
- prophylactic haematopoietic growth factos
- tx febrile neutropenia
- preserve fertility
Prognosis - 95% remission - 80-90% cure in cildren, adults < 30%
Negative symptoms - weight loss, fever, night sweats
Juvenile idiopathic arthritis symptoms, clinical features, investigations, treatment
Most common chronic rheumatological disease in children resulting in chronic joint inflammation
Symptoms
- Arthritis > 6 weeks
- Oligoarticular of monoarticular
- large weight bearing joints
- morning stiffness
- Non-purpuric rash, macular, trunk
Clinical features
- Decreased ROM, synovitis, rash, muscle atrophy of extensors
Investigations
Clinical diagnosis
- Raised ESR + CPR
- RF negative
- ANA may be elevated
- Anti-CCP indicate poor prognosi
- FBC- anaemia, thrombocytosis can be seen in systemic JIA
- Arthrocentesis and synovial fluid analysis
Treatment
- NSAIDs
- Corticosteroids intra-articular - triamcinalone
- DMARDs e.g. methotrexare
- Biologics - etanercept
- Physiotherapy, OT
Rarely use systemic steroids because of adverse effects - osteoporosis, growth restriction
Henoch-Schonlein Purpura
Autoimmune IgA vasculitis involving the small vessels in the skin, GIT, kidneys and joints
Symptoms
- Palpable purpura (buttocks, legs, back)
- Arthritis
- Abdominal pain
Erythematouc macular lesions, subcutaneous oedema, bloody stools
Investigations
clinical diagnosis
- FBC - increased platelet count
- coagulation profile normal
- IgA raised
- Raised creatinine
- Urinalysis - Haematuria with red cell casts
- raised inflammatory markers
Treatment - symptomatic, NSAIDs
Kawasakis vasculitis symptoms, complicaitons, investigations, treatment’’’
Medium vessel, common less than 5 year olds
Symptoms
CRASH and burn
- Conjunctivitis
- Rash
- Adenopathy
- Strawberry tongue
- Hand and feet swelling and peeling
- Fever
Complications - cardiac ischaemia and aneurysm
Investigations
clinical diagnosis
- Raised ESR and CRP
- elevated WCC with neutrophilia
- normocytic normochromic anaemia
- sterile pyuria
Investigations
- coronary angiogram
- Echocardiogram
Treatment
- Aspirin
- IV immunoglobulin - relieves acute inflammation
- second line - corticosteroids, biologics
Prog - spontaneously resolvesin 6-8 weeks
Eczema risk factors, classification, investigations, tx
Inflammatory skin condition characterised by dry, pruritic skin with a chronic relapsing course
Epid: can affect all ages, most common < 5yrs
Rsk: family history of atopic disease
Classification
- infantile - often cheeks, forehead, scalp, extensor surfacers
- childhoos - involvement of flexural skin with popliteal fossa, wrists, hands feet
- adult - flexural skin, upper back, arms, dorsal hands
Inv - clinical
Tx
- emollients and moisturisers - best utilised after a shower
- topical steroids
- calcineurin inhibitors - tacrolimis
- topical coal tar
- systemic immunosuppressives e.g. cyclosporine, methotrexate
Transient Tachypnoea of the Newborn risk factors, clinical features, investigaitons, treatment
tachypnoea resulting from delayed resorption and clearanance of fetal alveolar fluid from the lung parenchyma results in transient pulmonary oedema
Risk factors: c/s, prem, diabetic mothers
Clinical features - RR > 60bpm. increased WOB, time of birth - 2hrs life, barrel chest, lungs equal to ausc
Investigaitons
- ABGs and VBG
- CXR - increased lung volume with flattened diaphragm, mild cardiomegaly, prominenct vascular markings from himul
- FBC, UEC, glucose, septic screen if needed
Diagnosis of exclusion
Treatment
- most resolve within 12-24 hours
- supportive management only - oxygen, commence feeding as soon as tolerated
Respiratory Distress Syndrome (Hyaline Membrane Disease) cause, symptoms, inv, tx, prev
Condition of respiratory insufficiency as a result of surfactant deficiency (urfactant reduces alveolar surface tension facilitating alveolae expansion and reduced likelihood of atelactesis)
Causes: Prematurity
Symptoms: Tachypnoea, increased WOB, cyanosis
Investigations
- ABGs
- CXR - diffuse ground glass apearance
- UEC, glucose, cultures, CRP, FBC
Treatment - surfactant therapy and CPAP
Prevention
- 2 doses of 11.4mg celestone 24 hours apart
Neonatal Jaundice causes
Unconjugated (Path or phys)
- Haemolytic
- intrinsic
- membrane conditions e.g. spherocytosis
- Enzyme conditions e.g. G6PD
- Thalassemia, sickle cell
- Extrinsic
- Sepsis
- Infection - hep, CMV, rubella
- Alloimunity e.g. maternal fetal blood group incompatibility
- intrinsic
- Non-haem
- Breastmilk
- Gilberts syndrome
Conjugated (Path)
- Hepatic
- Post hepatic e.g. biliary atresia, bile duct obstruction
Haemolytic disease of the newborn
Maternal IgG antibodies (Usually RhD antigen) produced by the maternal immune system pass freely through the placental circulation to the foetus and destroy fetal red blood cells (Haemolysis) resulting in anaemia and possibly hydrops fetalis.
RhD neg mum to an RhD positive baby
Presentation
- antenatal
- foetal anaemia
- foetal hydrops fetalis
- Postnatal
- anaemia
- jaundice
- hepatosplenomegaly
Screening - maternal blood type and antibody screen at first antenatal visit
Diagnosis - after birth - Direct Coombs test
Treatment
- Antenatal - immunoprophylaxis - IV immunoglobulin (Anti-d administered at 28 weeks, at 34-36 weeks and within 72 hours of delivery)
- Postnatal: supportive, phototherapy, exchange transfuction
Neonatal sepsis
Causes
- Early < 72 hours –> GBS, E.coli, Listeria
- Late > 72 hours –> Gram +ve cocci, gram negs
Symptoms: poor feeding, irritabile, lethargic, hypotonia, apnoea, resp distress
Investigations:
- FBC, CRP, UEC, Blood cultures
- Urinalysis
- ear swab
- CXR if resp sx
- consider LP
Treatment
- early onset –> amoxycillin + gentamycin
- Late onset –> vancomycin + gentamycin
Neonatal Hypoglycaemia causes, symptoms, inv, treatment
Ideally want > 3.5… hypoglycaemic is < 2.6mmol/L
Risk factors
- inadequate supply - prem. SGA, poor feeding
- Increased utilisation - infection, perinatal hypoxia, hypothermia
- Hormonal - diabetic mother, congenital adrenal hypoplasia
Symptoms
- hypotonia
- lethargy
- poor feeding
- tachycardia, hypotension, sweating
Prevention
- early feed- within 1 hour, frequent feeds
- monitor BGL
- warm baby
investigations if recurrent low BSL
- repeat BSL
- hormones - insulin, cortisol, growth factor
- blood gas, lactate, ketones
- urine - AA _ organic acids
Treatment
- encourage hourly breast feeds
- input - enteral feeds, IV supps, dextrose
Meconium aspiration risk factors, symptoms, inv, tx
Resp. ditress resulting from presence of meconium in resp. tract
Risk factors
- > 42 week gestational age
- maternal HTN, pre-eclampsia
- smoking, substance abuse
- fetal distress
- oligohydramnios
- chorioamnionitis
Symptoms
- meconium stained amnoitic fluid
- resp distress
Diagnosis - visual meconium, CXR - patching infiltration
Tx - supportive, ABs until sepsis excluded
Intestinal malrotation symptoms, complications, inv, treatment
Abnormal rotation of them idgut during development
Symptoms: bilious vomiting, dehydration, sepsis, inconsolable, failure to thrive. food intolerance, diarrhoea
Complications
- volvulos - loop of intestine twists around itself and supporting mesentary leads to ischaemic and necrosis of bowel
- duodenal obstruction
- perforation and peritonitis
Investigations
- CT contrast
- AXR to rule out other abnormalities
- US to eclude ofther ddx like intussusception
- FBC
- ABG - lactic acidosis, pH down
Treatment - surgical
Necrotising Enterocolitis
Disorder resulting from ischaemic necrosis of the intestinal mucosa in neonated. Most common GI condition in premature neonates. Characterised by inflammation, ischaemia and permeability of the neonatal bowel wall to bacteria. it is potentially life threatening.
Risk factors - prem, antibiotics, non-human milk
Sympptoms - feeding intolerance, bilious vomit, unsettled, pale, diarrhoea, abdo distention and tenderness
investigaitons
- FBC - anaemia, thrombocytopenis
- septic screen
- blood cultures
- Diagnosis –> AXR - abnormal gas pattern, bilated bowel loops. bowel wall oedema, pneumoperitoneum
Treatment
Medical - supportive. ABs, discontinue feeds (Bowel rest), fluid resusc
Surgical - if there is a pneumoperitoneum or perforation –> laparotomy
Delayed passade of meconium causes
- Hirschprungs disease
- hypothyroidism
- cystic fibrois
- anal atresia
- meconium plug
