Paediatrics Flashcards
Normal neonatal heart rate range
100-160
Fragile X Syndrome- name: The mode of inheritance The name of the gene The type of mutation The type of diagnostic test
X-linked dominant FMR1 gene CGG triplet repeat Polymerase Chain Reaction PCR
Which grades of vesicoteric reflux require prophylactic antibiotics?
III to V
Grade I into the ureter only
Grade II into ureter + renal pelvis without distension
Grade III mild hydronephrosis
Grade IV moderate hydronephrosis
Grade V severe hydronephrosis + a twisted ureter
The only risk factor for 47XXY
This is Klinefelter’s and it’s maternal age
What is the mode of inheritance of Duchenne Muscular Dystrophy?
X-linked recessive
Complications of measles
- Pneumonia
- Diarrhoea
- Encephalitis
- Subacute sclerosing panencephalitis
- Bacterial superinfection due to immune suppression
Name the disorder: low grade fever, arthralgia, + colicky abdominal pain. Then rash starting as pink maculopapules, progressing to petechiae or purpora, going from red to brown then fading. Arthritis involving the knees and ankles is present in 2/3.
Immunoglobulin A vasculitis (Henoch-Schonlein Purpura)
Presenting features of congenital hypothyroidism
Prolonged jaundice Feeding problems Lethargy Constipation Umbilical hernia Macroglossia Large fontanelles Puffy face
When to do a renal ultrasound for a UTI
- 1st febrile UTI and <2yo
- Any age with recurrent febrile UTIs
- Children with a UTI who have a strong family hx of renal/bladder issues or HTN
- Children who don’t respond to Abx treatment
Common chest pathogens in cystic fibrosis
Staph aureus
Haem influenza
Pseudomonas (esp in older pts)
Burkholderia cepacia is awful + assoc w multiple drug resistance
A serum test for Celiac disease with 90% sensitivity + specificity
Serum anti-tTG antibody Do IgA level as well to avoid a false positive in those with a specific deficiency
Phenylketonuria: mode of inheritance and affected gene
Autosomal recessive inherited disorder caused by the mutation of phenylalanine hydroxylase(PAH) gene
The gold standard diagnostic test for 22q11 microdeletion syndrome
DiGeorge Fluorescent insitu hybridization (FISH)
The drug of choice for epiglottitis
Ceftriaxone
Tetanus management
Rx: Supportive care, abx and tetanus IVIg
Most common cause of leukocoria in babies
Congenital cataracts
Prenatal exposure to which pathogen is associated with type 1 DM?
Rubella Note that this is not the case with rubella exposure after birth
The diagnostic test of choice for hypertrophic pyloric stenosis
Abdominal ultrasound, 90% sensitivity
CSF signs of meningeal inflammation- bacterial
- Increased pleocytosis
- High protein
- Low glucose
Hand, foot and mouth disease is caused by what?
Coxsackie A16
The treatment of choice for absence seizures
Ethosuximide (or valproic acid)
Colic: the rule of 3s
>3 hours a day of crying (usually in evening), >3 days a week for > 3weeks
Name a pathology associated with breath holding attacks in infants
Iron deficiency anaemia Do a CBC + ferritin
The most common cause of meningitis in infants, children and adults + The name of the vaccine for it + The antibiotic regime of choice
Streptococcus pneumoniae 13-valent pneumococcal conjugate vaccine (PCV13) Ceftriaxone + vancomycin
Tourette’s syndrome co-morbidities
ADHD ODD OCD Conduct disorder
The drug of choice for accidental beta blocker poisoning
Glucagon
Presentation of intussusception
- Sudden, intermittent abdo pain, emesis
- Currant jelly stools (bloody)
- Sausage shaped abdo mass
- Lethargy or altered mental state
Risk factors for acute otitis media
Eustachian tube pathology
Cleft palate
Genetic syndromes eg Downs
Cilial dysfunction
Genetic predisposition
Indigenous population
Bottle fed
Immunocompromised
Passive smoking
Premature
Siblings in the household
Name a specific contraindication to Rota-1
Intussusception
Complications of cystic fibrosis
Respiratory failure
Pneumothorax (poor prognostic sign)
Cor pulmonale (late comp)
Pancreatic fibrosis w DM Gallstones
Bruising can result from pancreatic insufficiency →malabsorption of fat soluble vitamins reduced vit K → abnormal clotting
Rectal prolapse in 20% from bulky stools (pancreatic insufficiency)
Nasal polyps are common Infertility - all males
Malnutrition Death average 46 in Canada
ANA and anti-dsDNA are the main biomarkers for which condition?
SLE
The four malformations of the Tetralogy of Fallot
Pulmonary valve stenosis
Ventricular septal defect
Overriding aorta
RV hypertrophy
The rash associated with Lyme disease
Erythema migrans 1-2 weeks after transmission (spreading, annular rash with central clearing)
Name the syndrome: Learning disability Seizures Autism Funny ears Usually boys
Fragile X Note that physical traits get more prominent with age It’s the most common genetic cause of autism
The type of murmur associated with coarctation of the aorta
Systolic in the left interscapular area
75-85% of kids with coarctation of the aorta have what other cardiac condition?
A bicuspid aortic valve
Typical X-ray appearance in surfactant deficient lung disease
Ground glass appearance with indistinct heart borders
What’s the most appropriate investigation following a simple febrile seizure?
None- nothing required
Maternal contraindications to breastfeeding
- Chemotherapy
- Radioactive compounds
- HIV/AIDS
- Active TB or brucellosis
- Herpes lesions on breasts
- Consumption of more than 5g/kg/d alcohol
Diagnosis of epiglottitis
Diagnosis by indirect fiberoptic laryngoscopy There s a classic thumbprint sign on lateral c spine x ray but a normal X-ray does not exclude the diagnosis
Suspicious injuries in a child
- Posterior rib #
- Metaphyseal #
- Scapular, vertebral #
- Sternal #
- Immersion injuries
- Bruising on cushioned areas
- Retinal haemorrhages (shaking)
- Patchy hair loss
- Torn frenulum
- Burns w sharp margins
Pathological gynecomastia is suggested by what things? (5)
- Rapid progression
- Occurence outside neonatal or pubertal age range
- Occurence in prepubertal boys
- Breast enlargement over 4cm in diameter
- Rapid or precocious virilization
Which treatment is contraindicated in the treatment of infant botulism & why?
Antibiotics for clostridium bcs of the risk of releasing more toxin through cell lysis
Name the first line therapy for primary eneuresis in a child under 7
Motivational therapy (reward system)
Congenital adrenal hyperplasia: The mode of inheritance and the most commonly affected enzyme
Autosomal recessive 21-hydroxylase deficiency
Diagnosis and treatment of phenylketonuria
Dx: Quantitative amino acid analysis (phenylalanine) Rx: dietary restriction of phenylalanine
Causes of transient congenital hypothyroidism
Iodine deficiency Maternal Antibody mediated Prenatal exposure to antithyroid Rx Congenital liver haemangiomas
The commonest cause of atypical pneumonia in school aged children
Mycoplasma pneumonia
Jaundice in the first 24 hours of life is caused by what? (2)
Rhesus incompatability Sepsis It’s always pathological
What are the criteria for diagnosing fetal alcohol syndrome?
Growth deficiency Facial anomalies CNS dysfunction
The gold standard diagnostic test for influenza
PCR Specifically viral reverse transcription PCR
Cystic Fibrosis- name (the most common): The gene The chromosome The mode of inheritance The incidence
CFTR gene Chromosome 7 Autosomal recessive 1 in 3000
Significance of ‘onion-skinning’ appearance of X-Ray of a long bone
Think of Ewing sarcoma
Complications of achondroplasia
- Obesity
- Otitis media
- Apnea and bradypnea
- Spinal stenosis
- Obstetric problems
A child under 16 with a 6 week minimum history of this has what? Morning stiffness at least one hour min the morning Reduced ROM Joint pain Spiking fevers Evanescent rash on trunk Post exercise pain
Juvenile idiopathic arthritis (Do a slit lamp examination to rule out uveitis)
Features of congenital toxoplasmosis
• Macrocephaly (hydrocephalus), diffuse intracranial calcifications, jaundice, growth restriction, hepatosplenomegaly, blueberry muffin spots • Severe chorioretinitis
Galactosemia
Presents within first week of life, features: -hypoglycemia* -jaundice* -cyanosis, jitteriness, seizures -enlarged liver Urine will contain reducing substance (galactose) but has no ketone bodies
With which condition is the Steeple sign on X-Ray associated?
Croup
In the Canadian vaccine schedule, what is given at 12 months?
MMR
Pneumococcal conjugate
Meningococcal conjugate
Varicella
Meningococcus prophylaxis
Rifampin or CTX Ceftriaxone is the drug of choice for an exposed pregnant woman
Diagnosis of rubella
Rubella specific IgM antibodies, by virus culture or specific serology.
The virus can also be isolated from pharynx and blood.
When to treat acute otitis media with antibiotics
- Under 6m age
- Between 6m - 2y with symptoms persisting longer than 3days
- Over 2y but sick, with bilateral involvement, or who cannot be followed up within 48h
Treatment for Lyme disease
Amoxicillin until age 8
Doxycyline older than 8yo
Risk of recurrence of intussusception
Up to 10%
Live vaccines
Yellow fever Chicken pox Intranasal influenza Rotavirus Oral polio Herpes zoster MMR
Mineral deficiencies associated with febrile convulsions (2)
Iron + zinc
What reduces morbidity + mortality in children with severe measles?
Vitamin A
Three classical signs of croup
- Stridor
- Seal like barking cough
- Subglottic swelling
Name the syndrome- failure of puberty + anosmia
Kallmann syndrome Isolated GnRH deficiency with anosmia
Risk factors for hip dysplasia
- Female
- Breech presentation
- Oligohydramnios
- Firstborn
- Family history
- Birthweight >5kg
A blood test to detect Duchenne Muscular Dystrophy in a boy who is slow to walk
Elevated creatine kinase
Which vaccine is contraindicated in kids with atopic dermatitis?
Smallpox
The presenting features of acute lymphoblastic leukaemia
Bone pain, arthritis, limping Pallor Tiredness Fevers common at presentation (but sepsis rare) Bleeding
Sometimes: hepatosplenomegaly + lymphadenopathy Plus signs of BM inflitration: Anaemia, neutropenia, thrombocytopenia
Prevention of iron deficiency anaemia in a neonate
Breastfed term infants supplement @ 4-6m
Non breastfed start from birth
Premature supplement from one month until 12m
No cow’s milk until 9-12m
Screening of Hb levels between 6 and 12 months of age
Drugs that enter breastmilk
- Lithium
- High dose diazepam
- Cyclophosphamide
- Tetracyclines
- Metronidazole
- Bromocriptine
- Chloramphenicol
- Gold
Diagnostic test for Meckel’s Diverticulum
Diagnostic test of choice is technetium-99m pertechnetate scan aka Meckel scan
A test with 90% negative predictive value for septic arthritis
ESR + CRP Note that 50% of synovial fluid aspirations are sterile Blood cultures are only positive in 40-50%
The investigation of choice to confirm coarctation of the aorta
Transthoracic echo
A Finnegan’s score >8 is an indication for what? And what would be the first line treatment in this circumstance?
Pharmacological therapy in neonatal abstinence syndrome.
First line therapy is morphine, in a NICU setting
There is an 80% chance a neonate with meconium ileus has what?
Cystic Fibrosis
Investigations for kids under 5y w recurrent UTIs
Renal ultrasound - rules out hydronephrosis
VCUG - rules out VUR
Melanocytic skin lesions
Freckles
Lentigo
Naevi
Melanoma
A syndrome characterized by frequent and prolonged febrile convulsions in the first year of life, followed by myoclonus and atypical absences in the second year, then developmental delay
Dravet syndrome
Features of Patau syndrome Trisomy 13
- Midline defects: microcephaly/holoprosencephaly, microphthalmia, cleft lip/palate
- Umbilical hernia / omphalocele
- Rocker bottom feet
- Renal/Cardiac defects
- Polydactyly
- Cutis aplasia
Treatment of choice for allergic rhinitis
Intranasal glucocorticoids
The most common presentation of Meckel’s Diverticulum- two things
1) Painless lower GI bleed 2) Intestinal obstruction
The dose of adrenaline in paediatric anaphylaxis
0.01mls/kg of 1 in 1000, max 0.5mls
Bartonella henselae causes what?
Cat scratch disease
Immunisation contraindications
MMR is contra in pregnancy + immunocomp even if asymptomatic
Rota-1 Contra w a Hx of intussusception and imnnunocompromised
DTaP contra first trimester
Influenza contra 1st 6m of life + immunocomp
Varicella is contra if preg or planning preg in next 3/12
Anaphylaxis to any vaccine is a contra
Complications of acute otitis media
Hearing loss
Speech delay
TM perforation
Local spread eg mastoiditis
Cholesteatoma
Facial nerve palsy
Ossicular necrosis
Vestibular dysfunction
Meningitis
Epidural + brain abscess
Subdural empyema
Lateral + cavernous sinus thrombosis
Carotid artery thrombosis
Name the syndrome:
Truncus arteriosus
Schizophrenia
Micrognathia
Bifid uvula
Positive Chvostek’s sign
Weak and fatigued
DiGeorge
The gold standard test for identification of a contact allergen
Patch test aka thin layer rapid use epicutaneous test
Trisomy 21 appearance
- Hypotonia
- Epicanthic folds
- Upslanting palpebral fissures
- Low set small ears
- Flat facial profile
- Short neck with excess skin
- Sandal-toe deformity
- Hypoplastic incurved 5th finger
- Single transverse palmar crease
- Brushfield spots
Commonly observed signs in neonatal meningitis
Seizures Bulging anterior fontanelle Extensor posturing (opisthotonos) Focal cerebral signs eg gaze deviation cranial nerve palsies
Things streptococcus pneumoniae causes
Meningitis Otitis media Pneumonia Sinusitis MOPS
Area of brain typically affected by herpes simplex encephalitis in neonates
The temporal lobes
SIDS risk factors
- Bed sharing
- Drugs + alcohol
- Indigenous
- Smoking in the household
- No prenatal care
- Low birthweight
- Prone
- Poverty
- 3-5X increase after a sibling has died
Most significant cause of blindness and deafness in neonates
Congenital rubella
Complications of a Pavlik harness
Avascular necrosis of the femoral head Femoral nerve palsy
What’s the cause of roseola infantum?
Human herpes virus 6
Features of anaemia of prematurity
Impaired EPO production in prems Exacerbated by short red blood cell life span in prems Usually asymptomatic Can get tachycardia, apnea, poor weight gain Labs: • Low HgB and hematocrit • Low retics • Normocytic, normochromic
Things that can cause elevated sweat chloride levels
Untreated adrenal insufficiency
Pseudohypoaldosteronism
Hypothyroidism
Hyoparathyroidism
Ectodermal dysplasia
Mucoploysaccharidoses
Fucosidosis Pancreatitis
Name the disorder + the mode of inheritance: Jaundice Anaemia Gallstones Splenomegaly
Hereditary spherocytosis Autosomal dominant
What is the best method for detecting drug use in pregnancy?
Meconium analysis Collect it before it is contaminated by milk or formula though
A drug used usually on a temporary basis to treat primary enuresis
Desmopressin (DDAVP)
Management of a pregnant woman exposed to varicella
Pregnant females and immunocompromised should receive IVIg the vaccine is live attenuated
Think what in a neonate presenting with inconsolable crying, a mottled appearance and only brief sleeps after feeding?
Opioid withdrawal
What is the mode of inheritance of neurofibromatosis type 1?
Autosomal dominant
Physical causes of encopresis
- Chronic constipation
- Hirschsprung disease
- Hypothyroid
- Hypercalcaemia
- Spinal cord lesions
75-80% of cases of bronchiolitis are caused by what?
RSV
X-linked agammaglobulinaemia is associated with very small tonsils, abnormal lymph nodes, and what immune cell abnormality?
Lack of B lymphocytes
A severe sore throat in the presence of a normal appearing pharynx is worrying why?
This is suggestive of epiglottis caused by H influenzae and can be a life threatening emergency
Treatment of croup
- Single dose of dexamethasone or two days of prednisolone- (sufficient alone for mild/moderate cases) 2. Adrenaline 1in1000 0.5mls/kg (severe)
Features of phenylketonuria
Severe intellectual disability
Seizures
Musty body odor
Hypopigmentation involving skin, hair, eyes and brain nuclei
The criteria for sepsis
Temp >38.5
Plus one:
Sats <92%
Inappropriate tachycardia
Tachypnoea
Altered consciousness
Cap refill >4s
Purpura/ non blanching rash
Features of Prader-Willi syndrome
- Hypotonia and FTT as neonate
- Intellectual disability, delayed milestones
- Extreme obesity, short stature
- Hypogonadism/microphallus
- Dysmorphic: narrow forehead, almond shaped eyes, downturned mouth
- Hyperphagia
Organisms typically involved in osteomyelitis
Staph aureus- most common Salmonella (especially in sickle cell anaemia patients) Pasteurella multocida from cat and dog bites
Normal daily weight gain in a neonate
20-30g daily, or 150-200g weekly
Pathologies that look like child abuse (2)
Infantile scurvy
Osteogenesis Imperfecta
Maternal risk factors for VSD
Alcohol in pregnancy
Phenylketonuria
Diabetes
Complications of obesity
- Slipped capital femoral epiphysis
- NIDDM
- Asthma
- Apnea
- Gynecomastia
- Early menarche
- Irreg menses
- Fatty liver disease
- Steatohepatitis (can be reversed w Vitamin E)
Complications of ulcerative colitis
Severe bleeding
Fulminant colitis
Toxic megacolon
Perforation
Primary sclerosis cholangitis esp in men
Colorectal cancer (risk increases w duration + extent of disease)
Biggest risk factor for cerebral palsy
Prematurity
The diagnostic test of choice for herpes simplex encephalitis
PCR of CSF for common viruses has 95% sensitivity + specificity
Name the standard surgical technique for VSD repair
Apical left ventriculectomy
Risk factors for ambiguous genitalia
Parental consanguinity FH Maternal meds in preg eg danazol, androgens, progesterone, phenytoin
Complications of infectious mononucleosis
Splenic rupture
Guillain-Barre syndrome
What type of hypersensitivity reaction is contact dermatitis?
Type IV
What type of hypersensitivity reaction is skin prick testing for?
Type I (IgE mediated)
The 5 Ds of epiglottitis
Drooling Dysphagia Distressed Dysphonia Dyspnoea
Croup is caused by what?
Parainfluenza
Beckwith-Wiedmann syndrome is associated with which pathology?
Wilm’s tumour
Bacteria that cause acute otitis media
- Strep pneumoniae
- Haemophilus influenza
- Moraxella catarrhalis
How do you treat pregnant women who are contacts in a measles outbreak?
Give them immunoglobulin. MMR is contraindicated
Name the disease from this pathognomic sign- a pseudomembrane on the tonsils, pharynx or nasal cavity
Diphtheria
Treatment of rheumatic fever
Benzylpenicillin 0.6-1.2g IM then Pen V 250mg 6 hourly
Bed rest for 2/52 until the CRP is normal
Analgeisa for carditis/ arthritis w aspirin or naproxen
Immobilisation of joints in severe arthritis
Haloperidol or diazepam for the chorea
Monitor CRP + ESR
Name the disorder and it’s causative agent: Prodrome: Very high spiking fever (> 40° C) Maculopapular rash appears as soon as high fever resolves Rash starts on the trunk and expands outward (opposite of measles)
Roseola, HHV6
Cocaine exposure in utero is associated with what?
- Increased risk of necrotizing enterocolitis
- Small for gestational age
- Preterm labour + spontaneous abortion
- Abnormal neonatal sleep pattern
Typical age for intussusception
75% in the first two years of life
Investigations for intussusception
Abdo US (Target sign) Air or barium enema
Presentation of intussusception
Colicky progressive abdominal pain, drawing of legs up to chest, lethargy, bloody “red currant jelly” stool (Triad) Progression to severe periumbilical pain Often preceded by a URTI
Aetiology of intussusception
90% idiopathic, but children with CF or GJ tube at signicantly increased risk
Management of intussusception
Rehydration + analgesia
Air enema can be therapeutic (reduces intussusception in 75% of cases)
Rome III criteria for functional constipation
2 of the following for at least 1m:
2 defecations/wk
history of excessive stool retention
history of large-diameter stools
history of painful or hard bowel movements
in toilet trained children, the following additional criteria may be used:
at least one episode/wk of incontinence after the acquisition of toileting skills
history of large-diameter stools that may obstruct toilet
Crucial time periods in the development of constipation in kids
When introducing cow’s milk after breast milk
During toilet training and then when starting school
Complications of constipation
Pain retention cycle: anal fissures + pain from withholding passing stool
Chronic dilatation ± overflow incontinence
The cardinal sign of malrotation in children
Bilious emesis is the cardinal sign, especially if abdomen nondistended
Management of malrotation
Emergency laparotomy with Ladd’s procedure: counterclockwise reduction of the volvulus with division of Ladd’s bands
Clinical features of insulinoma
• Whipple’s triad • palpitations, trembling, diaphoresis, confusion, seizure, and personality changes
Features of malignant lymphadenopathy
Firm
Discrete
Non-tender
Enlarging
Immobile
Abnormal imaging findings or bloodwork
Constitutional symptoms
Worrisome location (i.e. supraclavicular or generalized)
What is Legg-Calvé-Perthes Disease (Coxa Plana) and when does it present?
Idiopathic AVN of femoral head, presents at 4-8 yr of age
Legg-Calvé-Perthes Disease presentation
- child with antalgic or Trendelenburg gait ± pain
- intermittent knee, hip, groin, or thigh pain
- flexion contracture (sti hip): decreased internal rotation and abduction of hip
- limb length discrepancy (late)
Treatment of scoliosis
Based on Cobb angle <25°: observe for changes with serial radiographs >25° or progressive: bracing (many types) that halt/slow curve progression but do not reverse deformity >45°, cosmetically unacceptable, or respiratory problems: surgical correction (spinal fusion)
Treatment of club foot
largely non-operative via Ponseti Technique (serial manipulation and casting)
correct deformities in CAVE order
change strapping/cast q1-2wk
surgical release in refractory case (rare) – delayed until 3-4 mo of age
Typical timing of start and end of breast milk jaundice
Starts day 7 Peaks weeks 2+3 Usually resolved by week 6
With what is cutis aplasia classically associated?
Trisomy 13
When does pyloric stenosis typically present?
A month after birth
Common causes of anaphylaxis
Wasp stings Bee stings Red fire ants Parenteral antibiotics Also Blood products Antivenom Radiological contrast materials Anaethetic agents
Vaccines which increase the risk of febrile convulsions
DTP and MMR
Developmental red flags (from QBank)
- Not smiling at 3m
- Rolling too early at <3m (possible hypertonia)
- Persistence of primitive reflexes after 6m
- Not babbling by 12m
- Not pointing by 15-18m
- <10words by 18m
- Not walking at 18m
Diagnostic test for varicocele
High resolution colour flow Doppler ultrasonography
Diagnostic test for X-Linked Agammaglobulinemia (XLA)
Fluorocytometric studies (ie flow cytometry) of B + T-lymphocyte markers must be performed to confirm XLA diagnosis.
Required annual screening investigation in XLA
Pulmonary function tests
Bugs children with XLA are vulnerable to
- Haemophilus
- Pneumococcus
- Mycoplasma
- Ureaplasma
- Campylobacter
- Giardia
- Enteroviruses
Children’s respiratory rates
Age Category Age Range Normal RR Infant 0-12 months 30-60 per minute Toddler 1-3 years 24-40 per minute Preschooler 4-5 years 22-34 per minute School Age 6-12 years 18-30 per minute
Treatment for idiopathic Bell’s Palsy
Prednisone
Early onset neonatal sepsis typically occurs when and is associated with what?
In the first 72 hours, associated with early or prolonged rupture of membranes. Organisms are acquired from the mother
What is the drug of choice for community acquired pneumonia in children aged 6 months to 5 years?
Amoxycillin
What is tarsal coalition and when does it present? And how does it present?
Fusion of two or more of the tarsal bones, usually bilateral, presents in adolescence. Presents w tenderness over the subtalar jt, rigid flatfoot, limited subtalar motion, peroneal tightness & pain on foot inversion
What is the HIV screening tool appropriate for infants born to HIV+ mothers?
HIV DNA PCR at 48h, 2 months and 6 months
Jaundice, cataracts, vomiting, diarrhoea, and poor weight gain in a breastfed neonate are highly suggestive of what?
Galactosemia
Red flags of asthma severity
- Fatigue
- Cyanosis
- Silent chest
- Diminished respiratory effort
- Diminished level of consciousness
Classification of severity of asthma
mild: occasional attacks of wheezing or coughing (<2/wk); symptoms respond quickly to inhaled bronchodilator; never needs systemic corticosteroids
moderate: more frequent episodes with symptoms persisting and chronic cough; decreased exercise tolerance; sometimes needs systemic corticosteroids
severe: daily and nocturnal symptoms; frequent ED visits and hospitalizations; usually needs systemic corticosteroids
Asthma: indications for hospitalisation
- ongoing need for supplemental Oxygen
- persistently increased work of breathing
- 2-agonists are needed more often than q4h after 4-8 h of conventional treatment
- patient deteriorates while on systemic steroids
Signs of poorly controlled asthma
- Use of beta-2agonists more than four times a week
- Asthma related school absence
- Exercise induced asthma
- Night-time symptoms occurring more than 2x/week
What is the mode of inheritance of tuberous sclerosis?
Autosomal dominant
The diagnostic test for hereditary spherocytosis
Osmotic fragility test
Combination of arthritis and palpable purpuric rash
Immunoglobulin A vasculitis (Henoch-Schonlein Purpur)
Management of Milk allergy (MA) and Cow’s Milk Protein allergy
Milk Allergy (IgE mediated)- avoid milk
Cow’s Milk Protein allergy- stop, reintroduce at 6-8m- most cases (>90%) outgrow intolerance by 1 year
(CanadaQBank says TOC is continue bf and mother removes whole milk from diet)
Milk protein allergy- typical presentation
Usually in months 2-8 of infancy Evidence of malabsorption- poor weight gain, diarrhoea (may be bloody) May be associated with eczema (Note 25% pts are also intolerant to soy)
G6PD deficiency presentation
• frequently presents as episodic hemolysis precipitated by: oxidative stress drugs (e.g. sulfonamide, antimalarials, nitrofurantoin) infection food (fava beans) • in neonates: can present as prolonged, pathologic neonatal jaundice
G6PD deficiency inheritance
X-linked recessive
Risk factors for child abuse
- Prematurity
- Difficult child
- History of parental child abuse
- History of substance abuse
- Social isolation
- Developmental delay
- Poverty
- Parental character/personality disorder
Initial management of constipation in children
in children with a hx of chronic constipation with stools that are difficult to pass, disimpaction is the first strategy and this is best achieved using orally administered stool softeners like polyethylene-glycol
***
No meconium 48 hours after birth implies what?
Aganglionic megacolon (Hirschsprung disease). Most neonates pass meconium within 24h
***
Neonate with meconium ileus
Cystic fibrosis
Sudden onset altered mental state, emesis and liver dysfunction after aspirin
Reye syndrome
Active teenager with anterior knee pain
Osgood-Schlatter disease
Tanner stage 3 in a 6 year old girl
Precocious puberty
Osteosarcoma with classical sunburst appearance
Ewing sarcoma with onion skin appearance
Congenital hypothyroidism
Gower’s sign
Duchenne muscular dystrophy
Cutis aplasia
Intussuseption
Rubella
Tarsal coalition
Legg-Calve-Perthes disease
Kawasaki disease
Staphylococcal scalded skin syndrome
Cholesteatoma is a destructive and expanding growth consisting of keratinizing squamous epithelium in the middle ear and/or mastoid process. Cholesteatomas are not malignant, but can cause signif problems because of their erosive and expansile properties. This can result in the destruction of the bones of the middle ear (ossicles), as well as growth through the base of the skull into the brain. They often become infected and can result in chronically draining ears. Treatment almost always consists of surgical removal. Usually caused by otitis media
Roseola infantum
HHV-6
Scabies
n web spaces and folds, v itchy, whole family affected
Sarcoptes scabeie
Rx permethrin
Impetigo
V contagious. Honey coloured crusts or superficial bullae
Nose & mouth, hands & feet
Staph aureus or strep pyogenes
Rx topical abx if mild- fucidic acid, muciprocin ointment
Oral abx if severe or in numerous sites - cephalexin/ erythromycin
Consider MRSA
Fetal alcohol syndrome
Angular chelitis
Iron deficiency anaemia
Treatment for Von Willebrand Disease
Desmopressin
Haemophilia A inheritance
X-linked recessive
The best indicator of remission in ALL
Blast cell numbers in bone marrow, specifically remission is when there are <5% blast cells.
Erythema marginatum
Rheumatic fever
Meckel scan
Diagnostic test of choice is technetium-99m pertechnetate scan aka Meckel scan. It uses a radionuclide to bind plasma protein and accumulate in functional gastric mucosa.
Ortolani test
The femoral head is reduced back into the acetabulum with this maneuver.
Barlow test
The hip can be popped out of the acetabulum with this maneuver.
Toxic megacolon
Complication of ulcerative colitis
A 29 year old man presented to primary care with anxiety and depression that had worsened since childhood. Further questioning revealed a history of poor school performance, poor body image, and poor self esteem. On physical exami- nation, the patient’s height was 189 cm and he had narrow shoulders, wide hips, sparse facial hair (which he shaved once every two months), and small, firm testicles. He was found to have elevated luteinising hormone and follicular stimulating hormone concentrations, low serum concentrations of testosterone and absent sperm on semen analysis
Klinefelters, usually 47,XXY
***
A 7 year old girl presenting with growth of pubic hair and no other abnormalities, what action is required?
Nothing, this is premature puberty (before 8) and not of significance in the absence of any signs suggesting the progressive development of true precocious puberty
***
Most likely cause of iron deficiency anaemia in a kid that has failed to respond to iron therapy
Thalassaemia
Do Hb electrophoresis
***
What is shown?
Rickets in a child
In the growing skeleton, the deficiency of normal mineralisation is most evident at metaphyseal zones of provisional calcification where there is an excess of non-mineralised osteoid resulting in growth plate widening and abnormal configuration of the metaphysis:
fraying: indistinct margins of the metaphysis
splaying: widening of metaphyseal ends
cupping: concavity of metaphysis
***
