Paediatrics Flashcards
What are the hormones significant in growth?
- Growth hormone
- Thyroid hormone
- Testosterone and Adrenal Androgens
- Oestrogens
Causes of transient hypothyroidism in neonates
- maternal antibody mediated
- Iodine deficiency
- prenatal exposure to antithyroid medications
Thyroxine is responsible for what growth in the foetus?
Brain and Bone
Earliest Sign of puberty in boys
Testicular Enlargement
around 11 years
Most common cause of short stature?
Familial
Constitutional Growth Delay
What causes Slapped Cheek?
Parvovirus B19
What is important to inform patients about Slapped cheek infections
Return if pain and swelling of joints in hand and feet
When do babies get their first tooth?
5-9 months
Definition of infantile Colic
unexplained paroxysms of irritability and crying for >3 hours/day, >3 d/week for >3wks in an otherwise healthy well fed baby
What is hypospadius?
And what are the different types?
An abnormality of the penis.
the opening of the urethra is not at the end of the penis
the foreskin may be all at the back of the penis (dorsal hood) and may have none on the undersurface
the penis may not be straight (chordee)
there is not a straight stream of urine
What is the most common cause of ambiguous genitalia
Congenital Adrenal Hyperplasia
What are the 3 hormones the adrenal cortex produces?
cortisol
aldosterone
androgens
What is Congenital Adrenal Hyperplasia?
CAH is autosomal recessive disorder characterised by the partial or total defect of various synthetic enzymes of the adrenal cortex required for cortisol and aldosterone production
When a child with CAH becomes unwell it important to administer what?
Hydrocortisone
What is the main hormone controlling puberty
GnRH
Delayed Puberty Definition
is defined as lack of any pubertal development by 13 years of age for girls and 14 years for boys. Delayed puberty is most often due to a constitutional (familial) delay or is associated with chronic disease.
thelarche
Onset of secondary breast development
pubarche
appearance of sexual hair
What is Harrison’s Sulcus
A horizontal groove along the lower border of the thorax corresponding to the costal insertion of the diaphragm
Occurs in chronic asthma
Findings on Xray of child with asthma?
bronchial thickening
Hyperinflation
Flattening of diaphragm
Focal atelectasis
Treatment for croup
Dexamethasone 0.15mg/kg oral
Croup
subglottic layrngitis
narrowing caused by inflammation
Cystic Fibrosis Gene
CFTR gene found on chromosome 7
delta F508 mutation
Newborn Screening for CF
- first step: screening for immunoreactive trypsinogen (IRT) as indirect measure of pancreatic injury that is present at birth
- if IRT elevated: test for common mutations F508
- 3rd step: sweat test for those with heterozygous (1 CFTR gene mutation) DNA results (if homozygous baby referred to CF clinic)
Neonatal Cystic Fibrosis Presentation
meconium ileus
jaundice
antenatal bowel perforation
Infancy Cystic Fibrosis Presentation
pancreatic insufficiency with steatorrhoea and failure to thrive
anaemia, hypoproteinemia, hyponatremia
Investigation for CF
Sweat chloride test
Most common cause of stridor
croup
Most common cause of persistent stridor
laryngomalacia
Marfan Syndrome
connective tissue disorder caused by mutations in the fibrillin gene at chromosome 15q21.1
CVS features of Marfan Syndrome
Mitral valve prolapse
Dilatation of the ascending aorta in 50%
Eye features of Marfan Syndrome
Ectopia lentis
myopia
retinal detachment
Musculoskeletal features of Marfan Syndrome
tall stature, long limbs, increased arm span
long fingers
joint laxity and flat feet
chest deformity
long narrow face with deep set eyes, high narrow palate and dental crowding
Inheritance of Marfan Sydrome
Autosomal dominant, 25% are new mutations
Turner Syndrome
Lack of or abnormality of the second X chromosome (only in girls)
Main features of Turner Syndrome
Short, lack ovaries that function correctly , lack of sexual development, infertility
Physical features of Turner Syndrome
Webbing of the neck, puffy hands and feet, short stature, coarctation of the aorta or other heart abnormalities
Klinefelter Syndrome
genetic disorder in which there is at least one extra X chromosome to a standard human male karyotype (47, XXY)
Neurofibromatosis inheritance
Autosomal dominant
what chromosome is affected in neurofibromatosis
17
What are the common characteristics of neurofibromatosis?
cafe au lait spots
neurofibromas
lisch nodules
what is the most important regular check up in neurofibromatosis?
eyes : optic gliomas
Classical neurological manifestations of tuberous sclerosis?
subependymal nodules and cortical tubers
What is tuberous Sclerosis?
rare multi system genetic disease that causes benign tumours to grow in the brain and on other vital organs such as kidneys, heart, eyes, lungs and skin
Signs and symptoms of tuberous sclerosis?
seizures, intellectual disability, developmental delay, behavioural problems, skin abnormalities, lung and kidney disease
Genetics of tuberous sclerosis
caused by a mutation of either of 2 genes TSC1 and TSC2 which code for the proteins hamartin and tuberin - these proteins act as tumour growth suppressors
What causes congenital melanocytic naevi?
Congenital melanocytic naevi are caused by localised genetic abnormalities resulting in the proliferation of melanocytes
Neurocutaneous melanosis
rare syndrome defined by the proliferation of melanocytes in the central nervous system (brain and spinal cord) and the presence of a congenital melanocytic naevus
Frey’s Syndrome
red superficial rash or discolouration on the face upon eating or drinking
presumed to be related to auricotemporal nerve damage due to forceps delivery
usually improves with age
Mongolian Blue Spot
bluish discolouration of the skin over the lower back and sacrum in darskinned babies
usually disappears over 1 year
can be mistaken for bruising
Transient neonatal pustular dermatosis
blistering eruption with pustules presenting at birth or in the first few hours of life
occurs mainly on trunk and buttocks
no treatment required
Milia
blocked sebaceous glands, especially on the face, present in 50% of neonates
the firm white papules are about 1-2,, in diameter and differ from the yellowish papules of sebaceous hyperplasia
disappear after several weeks
Miliaria
related to overheating, appears as 2 types
‘crystallina’: beads of swear trapped under the epidermis, mainly on the forehead
‘rubia’ or ‘heat rash’: mainly on forehead, scalp, face and trunk
benign condition that disappears after a few weeks
Common pathogens in croup
Parainfluenza virus
RSV, influenza A and B, adenovirus
X-ray sign for croup
Steeple sign - narrowing of subglottic trachea
X-ray sign for epiglottitis
Thumb sign on lateral c spine X-ray describes a swollen, enlarged epiglottis, usually with dilated hypo pharynx and normal subglottic structures
Antibiotics for epiglottitis
Ceftriaxone
Epiglottitis pathogens
Hib
Strep pyogenes
Pneumoniae
Staph aureus
Common pathogen in bronchiolitis
RSV
Asthma spirometer
FEV1 12%
Next step after determining foreign body
Rigid bronchoscopy
Where are aspirated objects most commonly found?
In children equally in right and left lungs
Older children more common on the right
Long term complications of foreign body aspiration
Pneumonia, abscesses, perforation, bronchiectasis and erosion
Chlaymidia trachomatis pneumonia
Conjunctivitis, tachypnoea, staccato cough, afebrile
Usually 5-14 days of age: conjunctivitis
2-12 weeks: respiratory symptoms
conservative treatment for reflux
upright positioning, feed thickening, reasurrance
surgical procedure for GORD
Nissen fundoplication
Sandifer Syndrome
disorder characterised by gastrointestinal symptoms and associated neurological features
Spasmodic torticollis and dsytonia
Hirschsprung Disease
disorder of the abdomen that occurs when part or all of the large intestine have no ganglion cells therefore cannot function
Chronic constipation in child definition
the occurrence of 2 or more of the following within the previous 8 weeks:
< 3 bowel motions per week
>1 episode of faecal incontinence per week
Large stools in rectum or palpable on abdominal examination
Retentive posturing and withholding behaviour
Painful defaecation
Organic causes of constipation in children
Dairy protein intolerance can manifest as constipation in first 3 years of life.
Hirschsprung’s disease usually causes failure to pass meconium in first 48 hrs of life, and virtually never causes faecal soiling.
Other rare organic causes include poor colonic transit and motility, coeliac disease, hypothyroidism, hypercalcemia and spinal cord problems.
First line treatment for constipation in children?
A stool softener like parrafin oil
Dyschezia
a healthy infant, straining and crying before passing soft stool
Complications of coeliac disease
osteoporosis
malignancy - Non-Hodgkin’s lymphoma, Upper digestive tract malignancies
Serum antibodies Coeliac Disease
- Tissue transglutaminase (TTG)
- Antigliadin antibodies
- Anti-endomysial antibodies
Small bowel mucosal biospy coeliac disease
villous atrophy and crypt hyperplasia
increased number of llama cells and lymphocytes in lamina propria
increased intraepithelial lymphocytes
Coeliac Disease diagnosis
The presence of characteristic changers on small intestine biopsy in a symptomatic individual
complete symptom resolution on a gluten free diet
Genetics of coeliac disease
caused by a reaction to gliadin - a gluten protein found in wheat, barley, rye
antigen alpha gliadin, HLA-DQ2 (chromosome 6)
associated with thyroid disease
What age is intussusception most likely?
3-18 months
classical triad in intussusception
colicky abdominal pain + sausage shaped mass + red currant jelly stools
Signs of intussusception on a plain abdominal Xray
Target sign - 2 concentric circular radiolucent lines usually in the right upper quadrant
Crescent sign - a crescent shaped lucency usually in the left upper quadrant with a soft tissue mass
How do you confirm the diagnosis of malrotation with volvulus
barium meal
What is intestinal malrotation?
condition that is congenital and results from a problem in the normal formation of the fetal intestines. There is a disruption in the usual steps that the intestines follow to arrive at the correct position within the abdomen. Malrotation causes the parts of the intestine to settle in the wrong part of the abdomen, which can cause them to become blocked or to twist.
What is an intestinal volvulus?
part of the bowel becomes twisted
What does APGAR stand for?
Appearance, pulse rate, grimace reflex, activity, respiratory rate
APGAR scoring for appearance
0 = pale or blue 1 = body pink, extremities blue 2 = pink
APGAR scoring for pulse rate
0 = absent 1 = 100
APGAR scoring for Grimace reflex
0= none 1= some 2= vigorous
APGAR scoring for activity
0=floppy
1= some tone
2=good flexion
APGAR Scoring for Respiratory rate
0=apnoeic
1= irregular, weak
2=active crying
cephalohaematoma
haemorrhage under the periosteum of a skull bone, most commonly the parietal: feel firm at the edges with a soft fluctuant centre before resolving
subgaleal haemorrhage
bleeding into the scalp in the subaponeurotic space, is much rarer and more serious because significant hypovolemia and anaemia can result. All the scalp feels boggy and loose.
capillary naevi
faint pink lesions over the eyelids temples, upper lip, nape of neck: benign and nearly always fade completely
Weight fluctuation after birth
normal infants lose up to 8% of their birth weight in the first 3-5 days and regain birth weight by 7-10 days
Bowel actions after birth
96% pass meconium by 24 hours and 99.9% by 48 hours
What causes failure to pass meconium?
almost always abnormal and may indicate Hirschsprung disease (disorder of the abdomen that occurs when part or all of the large intestine have no ganglion cells therefore cannot function), meconium plug syndrome or other bowel obstruction
Conditions tested for in newborn screening
Cystic fibrosis phenylketonuria galactoseamia primary congenital hypothyroidism rare metabolic conditions
Newborn screening
Heel prick blood test collected 48-72 hours after birth
Phenylketonuria
caused by the absence of a fully active form of the liver enzyme phenylalanine hydroxyls, which is responsible for the conversion of the amino acid phenylalanine to tyrosine
accumulation of phenylalanine and its metabolite in the blood and tissues damages the brain
Inheritance of phenylketonuria
autosomal recessive
Galactossaemia
caused by a deficiency in the enzyme galactose-1-phospahate uridyltransferase that results in the accumulation of galactose and galactose - 1-phosphate
Symptoms of galactossaemia
Asymptomatic at birth
develop symptoms in first weeks of life
failure to thrive, lethargy, vomiting, liver disease, jaundice, cataracts, intellectual disability, septicaemia
What is primary congenital hypothyroidism?
due to an absent, ectopic or malfunctioning thyroid gland
Causes of vomiting in the neonatal period?
Systemic Infection Bowel obstruction malrotation with volvulus Cerebral Hypoxia Subdural Haematoma Hypoglycaemia Renal Disease Adrenal Insufficiency Inborn metabolic Errors
ADHD Definition
ADHD is described as “a persistent pattern of inattention and/or hyperactivity-impulsivity that interferes with development, has symptoms presenting in two or more settings (e.g. at home, school, or work), and negatively impacts directly on social, academic or occupational functioning”. The symptoms must be present before age 12.
Most common cause of acute gastro <5 years
Rotavirus
When do physical signs of dehydration become apparent?
When 4% of body weight is lost
Treatment for no/mild dehydration
Oral rehydration solution
Treatment for moderate dehydration
Nasogastric rehydration therapy
Treatment for severe dehydration
Intravenous dehydration
rehydration initial saline bolus dose
20ml/kg, repeat until shock is corrected
complications of acute gastroenteritis
- Febrile convulsions
2. Sugar malabsorption
extraintestinal manifestation of Crohn Disease
growth retardation, anorexia, fatigue, delayed puberty, erythema nodosum, arthritis, clubbing, hepatitis and uveitis
hyphema
collection of blood in the anterior chamber of the eye
enophthalmos
posterior displacement of the eyeball within the orbit due to due to changes in the volume of the orbit (bone) relative to its contents (the eyeball and orbital fat), or loss of function of the orbitalis muscle
opthalmia neonatorium
conjuctivitis in first month of life
Gonococcal, bacterial, herpetic, chlamydial (most common)
Atonic Neck Reflex
lying supine, the head is turned by the examiner to one side
infant adopts a fencing posture with the arm outstretched on the side to which the head is turned
positive supporting reflex
infant held vertically, feet on a surface
legs take body weight, may push up against gravity
Placing Reflex
Infant held vertically and the dorsum of the feet brought into contact with a surface
Lifts first one foot, placing it on the surface, followed by the other
Rooting reflex
stimulus near mouth - turns head towards stimulus
Moro reflex
Sudden head Extension (drop the head)
Symmetrical extension, then flexion of all limbs
Grasp reflex
an object is placed in the palm at the base of the fingers
Flexion of the fingers of the hand
sit without support
6-8 months
crawling
8-9 months
walking unsteadily
12 months
walks alone steadily
15 months
Head control
6-8 weeks
Talking red flags
Does not babble by 7 months
does not join words by 2 years
does not speak in sentences by 3 years
Criteria for foetal alcohol spectrum
Growth Deficiency: low birth weight and/ or decelerating weight over time not due to nutrition
b) characteristic pattern of facial anomalies: short palpebral fissures, flattened philtrum, thin upper lip, flat midface
c) central nervous system dysfunction: microcephaly and/ or neurobehavioral dysfunction (hyperactivity, fine motor problems, attention deficits, learning disabilities, cognitive disabilities, difficulties in adaptive functioning
Anencephaly
at birth presents as an opened, malformed skull and brain
most babies are stillborn
no effective treatment is possible
death usually occurs within hours or days
encephalospele
a midline sac protrudes that may contain brain
hydrocephalus is common
spina bifida occulta
one or more vertebral arches are incomplete posteriorly but the overlying skin is intact
spina bifida
developmental congenital disorder caused by the incomplete closing of the embryonic neural tube
some vertebrae overlying the spinal cord are not fully formed and remain unfused and open
if the opening is large enough this allows a portion of the spinal cord to protrude through the opening in the bones
benefits of circumcision
prevention of phimosis and slightly reduced incidence of UTI, balanitis, cancer of the penis
milk carries
decay of superior front teeth and back molars in first 4 years of life
prevention of milk carries
no bottle at bed time, clean teeth after last feed
minimise juice and sweetened pacifier
clean teeth with soft damp cloth or toothbrush and water
water fluoridation
obesity
BMI > 95th percentile for age and height
organic cause of obesity
Prader Willi, Carpenter, Tuner, Cushing Syndromes, Hypothyroidism
Koplik spots
white spots on buccal mucosa
Clinical Features of measles
prodromal fever, a severe cough, conjunctivitis, coryza and Koplik’s spots on the buccal mucosa. These are present for three to four days prior to rash onset.
Measles rash
maculopapular
The characteristic red, blotchy rash appears on the third to seventh day. It begins on the face before becoming generalised and generally lasts four to seven days.
complications of measles
otitis media, pneumonia and encephalitis. Sub-acute sclerosing panencephalitis (SSPE) develops very rarely as a late sequela.
Period of communicability in measles?
infectious from slightly before the beginning of the prodromal period, usually five days prior to rash onset. They continue to be infectious until four days after the onset of the rash.
When is MMR vaccine given?
12 months of age and a second dose at four years of age (prior to school entry). The second dose is not a booster but is designed to vaccinate the approximately five per cent of children who do not seroconvert to measles after the first dose of vaccine.
Roseola infantum pathogen?
caused by infection with herpesvirus 6 and occasionally HHV-7
Differentiating feature between measles and roseola infantum?
In roseola infantum morbilliform (measles like) rash appears as high fever subsides
child well and afebrile when rash appears
Incubation period for chicken pox?
10-21 days
Ramsay Hunt Syndrome presentation
vesicels on the pinna of one ear and facial nerve palsy due to zoster of the geniculare ganglion
Epidemic Parotitis
Mumps - swelling pain and tenderness of the parotid glands
Kawasaki Disease
systemic vasculitis that predominantly affects children < 5 years of age
Scarlet Fever
Infectious toxin mediated disease caused by exotoxins elaborated by group A streptococcus and coded by plamids
widespread T cell activation
sore throat, fever and a characteristic red rash - bright red tongue with “strawberry appearance”, Forchheminer spots (fleeting small red spots on the soft palate)
Rash: fine, red and rough textured, blanches, appears 12-72 hours after the fever starts, generally begins on the chest and armpits and behind the ears, may also appear in the groin, worse in the skin folds
Scarlatina
mild form of Scarlet Fever, often affecting pre school age children, whereas Scarlet fever is commonest at age 5-10 years
in both the primary site of infection is the throat, causing exudative tonsillitis and/or pharyngitis
Diagnostic criterial for Kawasaki disease?
Fever for 5 days or more, plus 4 out of 5 of:
polymorphous rash
bilateral (non purulent) conjuctival injection
mucous membrane changes: e.g redened or dry cracked lips, strawberry tongue, diffuse redness of oral or pharyngeal mucosa
peripheral changes, e.g erythema of the palms or soles, oedema of the hands or feet and in convalescence desquamation
cervical lymphadenopathy
HSV -1
Primarily oropharyngeal
HSV-2
Primarily genital
commonest childhood HSV infection?
gingivostomatitis (HSV1)
At the time of vaginal delivery, what is the risk of herpes simplex virus transmission from a mother with true primary herpes simplex virus infection to her infant?
50%
Herpes Neonatorium classification
Skin, eye, and mucous membrane (SEM) disease
Disseminated infection
CNS infection
Hand Foot and Mouth Disease
caused by enteroviruses
coxsackie A virus typically implicated followed by enterovirus 71
mild febrile illness associated with maculopapular or vesicular lesions on the hands and feet and buccal mucosa
3-6 days incubation
illness lasts 2-3 days
pathogen of bone and joint infections?
staph aureus
complications of paediatric osteomyelitis?
DVT meningitis chronic osteomyelitis Growth disturbances and limb length discrepancies pathological fractures
Radiographs of osteomyelitis
early films may be normal or show loss of soft tissue planes and soft tissue edema
new periosteal bone formation (5-7 days)
osteolysis (10-14 days)
late films (1-2 weeks) show metaphyseal rarefaction (reduction in metaphyseal bone density) or possible abscess
Breastfed fed infants should feed how often?
Every 2-5 hours
Duration of breast feeds
Duration of Feed depends upon the rate of transfer from breast to baby, which in turn depends on the babies suck and the mothers let down 5-6 mins to 20-30 mins
Most common cause of blood stained milk
Trauma to the nipple
Introducing solids
4-6 months
Gowers sign
Patient uses arms to walk up own body from a squatting/ lying down position. Indicates proximal muscle weakness.
opisthotonos
Rigid spasm of the body with the back fully arched and the heels and head bent back
Signs of meningism
Brudzinski’s sign
Opisthotonos
Nuchal rigidity
Kernig’s Sign
Glucose in bacterial vs viral meningitis
Bacterial: low
Viral: normal
Protein in bacterial vs viral meningitis
Bacterial: high
Viral: low or normal
Lymphocytes in bacterial vs viral meningitis
Bacterial: bit high
Viral: very very high
If encephalitis is suspected give what mediciation?
acyclovir
Bacterial meningitis ABX < 2 months
Cefotaxime AND
Benzylpenicillin*
Bacterial meningitis ABX > 2 months
Ceftriaxone
What to monitor in bacterial meningitis?
Neurological observations
weight and head circumference
electrolytes and glucose
ensure adequate pain relief
Follow up after bacterial meningitis
a formal audiology assessment 6-8 weeks after discharge (earlier if there are concerns regarding hearing).
Neurodevelopmental progress should be monitored in outpatients.
pathogen in Whooping cough
Bordetella pertussis
Clinical pattern of cough in Whooping cough
cough and coryza for one week (catarrhal phase), followed by a more pronounced cough in spells or paroxysms (paroxysmal phase)
Investigation for Whooping cough?
nasopharyngeal aspirate/swab for PCR
Erythema multiforme?
hypersensitivity reaction usually triggered by infections, most commonly herpes simplex virus (HSV). It presents with a skin eruption characterised by a typical target (iris) lesion. There may be mucous membrane involvement. It is acute and self-limiting, usually resolving without complications.
Stevens Johnson Syndrome
very rare, acute, serious, and potentially fatal skin reaction in which there is sheet-like skin and mucosal loss. nearly always caused by medications.
What is the llness severity score that has been developed to predict mortality in SJS and TEN cases?
SCORTEN
The SCORTEN criteria are:
Age >40 years Presence of a malignancy (cancer) Heart rate >120 Initial percentage of epidermal detachment >10% Serum urea level >10 mmol/L Serum glucose level >14 mmol/L Serum bicarbonate level <20 mmol/L
Treatment for scabies
permethrin 5% cream
Most common congenital heart defect
Ventricular septal defect
Most common type of atrial septal defect
Ostium secondum
Patent ductus arteriosus
Patent vessel between descending aorta and left pulmonary artery
VSD murmur
Early systolic to holo systolic murmur best heard at LLSB
Management for PDA
Indomethacin: PGE2 antagonist - only effective in premature infants
Catheter or surgical closure if PDA causes respiratory compromise, FTT, or persists beyond 3rd month of life
Causes of cyanotic heart disease
1,2,3,4,5 Truncus arteriosus Transposition of the great vessels Tricuspid atresia Tetralogy of fallot Total anomalous pulmonary venous return
Fallot tetralogy
VSD
Pulmonary stenosis
Overriding aorta
RV hypertrophy
When do you see a “snowman” heart
Total anomalous pulmonary venous return
When do you see an egg shaped heart
Transposition of great arteries
When do you see a boot shaped heart
Tetralology of fallot, tricuspid atresia
Ebsteins anomaly
Septal and posterior leaflets of the tricuspid valve are displaced towards the apex of the right ventricle
What is a wheal?
superficial skin coloured or pale skin swelling, usually surrounded by erythema, that lasts anything from a few minutes to 24 hours, usually very itchy, may have a burning sensation
complication of untreated Kawasaki disease?
Up to 30% of untreated children develop coronary artery involvement with dilation or aneurysm formation. These can occur up to 6-8 weeks after the onset of the illness. Echocardiography should therefore be performed at least twice: at the initial presentation and, if negative, again at 6-8 weeks.
most common worm infection
Enterobius vermicularis (threadworm, pinworm)
threadworm treatment?
mebendazole
Define febrile convulsions
febrile convulsions are usually brief, generalised seizures associated with a febrile illness, in the absence of any central nervous system infection or past history of afebrile seizures
risk of recurrence of febrile convulsions?
30%
Nutritional requirements for 0-6month year olds?
exclusive breast milk during first 6 months recommended over formula unless contraindicated
breastfed infants require supplements: vitamin K (all babies get at birth breastfed or not), Vitamin D (400-800 IU//d), fluoride (after 6 months if not sufficeicnt in water), iron (6-12 months, only if not receiving fortified cereals/ meat/ meat alternatives
Nutritional requirements > 6 months
solid food introduction - do not delay beyond 9 months
2-3 new foods per week with a few days in between ach food to allow them time for adverse reaction identification
suggested order of introduction:
meat, meat alternatives and iron enriched cereal (rice cereal is least allergenic)
pureed vegetables
fruit
Nutritional requirements 9-12 months
finger foods and swtich to homogenised milk
foods to avoid
honey, until past 12 months - risk of botulism
added sugar, salt
excessive milk
juice
anything that is a choking hazard
Advantages of breastfeeding?
easily digested, low renal solute load
immunologic
contains IgA, macrophages, active lymphocytes, lysozymes, lactoferrin which inhibits E coli growth in intestine
lower pH promotes growth of lactobacillus in GI tract
parent - child bonding
economical, convenient
Content of breast milk?
colustrum (first few days): clear, rich in nutrient (i.e high protein, low low fat), immunoglobin
mature milk: 7-:30 whey: casein ratio, fat from dietary butterfat, carbohydrate from lactose
When is breastfeeding contraindicated?
is receiving chemotherapy or radioactive compounds
has HIV/ AIDS, active untreated TB, herpes in breast region
is using >0.5g/kg/d alcohol or illicit drugs
is taking medications known to cross breast milk
OCP is NOT a contraindication
Medications that cross into breast milk?
antimetabolites • bromocriptine • chloramphenicol • high dose diazepam • ergots • gold • metronidazole • tetracycline • lithium • cyclophosphamide
Normal birth weight?
3.25kg
Average weight gain per day after birth
20-30g
twice birth weight by 4-5 months
(3x birth weight by 1 year)
Average height when born?
50cm
Average head circumference when born?
35cm
Fluid Requirements for 0-12 months
150ml/kg/day (for example, a child weighing 7kg should have approximately 1050ml/day)
Fluid Requirements for 1-3 years
120ml/kg/day(for example, a child weighing 10kg should have approximately 1200ml/day)
Fluid Requirements for over 3 years
1000-1500ml minimum/day (may require more).
how many wet nappies should infants have
6-8 per day
how many wet nappies should older children have?
4-5 day
Signs that a child requires more fluid
Strong smelling nappies Yellow urine Less wet nappies than normal due to decreased amount of urine (infants should have 6-8 wet nappies/day and an older children should have 4-5/day) Constipation Headaches, tiredness Dry lips and skin More thirsty than usual Dark circles around eyes Weight loss.
Percentiles on growth charts?
3,10,25,50,75,90,97
What is bone age and how is it measured?
Bone age is an idex of physiological maturity indicating the state of bony epiphyseal maturation
bone age is obtained by perfuming an X-ray of the left wrist and hand and is interpreted according to an atlas of age and sex specific standards
4 questions to ask when evaluating short stature?
was there IUGR?
Is the growth proportionate?
Is the growth velocity normal?
is bone age delayed?
Familial short stature
these children will be growing on the 3rd centile or below but growth is parallel to the 3rd centile
growth velocity is usually normal
plot adult height percentiles
pubertal development occurs at appropriate time
makers of physical maturation such as bone age are consistent with chronological age
Constitutional Growth Delay
affects boys more commonly than girls
often there is a family history of a parent being short as a child with delayed puberty and eventual catch up with peers
typical growth pattern shows a growth rate that is mostly normal except for a period of 6-12 months in the first 2 years of life, when the growth rate falls transiently
tend to grow into their late teenage years or early twenties
Function of LH in puberty?
stimulates release of female and male sex hormones from the ovaries and testes
Function of FSH in puberty?
stimulates the ovaries and testes to produce egg and sperm
Function of sex hormones in puberty?
Oestrogen: secreted by ovaries - responsible for breast development in girls and maturation of the uterus
Testosterone (androgen): secreted by the testes, stimulate pubic hair growth and underarm growth
Most common cause of delayed puberty?
constitutional delay
define precocious puberty
development of secondary sex characteristics 2-2.5SD before population mean
<9 years for males
Eitiology of precocious puberty?
usually idiopathic in females (90%), more suggestive of pathology in males (50%)
Vision and fine motor red flags
Does not fix and follow visually by 3 months
Does not reach for objects at 6 months
Does not transfer by 8 months
Does not pincer grip by 12 months
Language red flags
Does not babble by 7 months
does not join words by 2 years
does not speak in sentences by 3 years
WHO definition of adolescence
10-19 years old
3 domains of adolescent development
Physical
Cognitive
Psychosocial
leading cause of morbidity and mortality in adolescence
accidents and injuries, mental health problems and behavioural problems such as substance abuse
How are children’s airways different?
narrower airways - more easily obstructed
larger tongue
longer floppy epiglottis
Higher anterior larynx
narrower airway at the cricoid just below the larynx
shorter trachea. chest xray is required to confirm ETT position
larger occiput. this results in the neck being flexed when a child is lying supine
mechanisms of airway obstruction
supine posture in an unconscious child
displaced teeth
foreign body, such as food/ vomit/ blood/ saliva
haemorrhage into mouth, tongue, neck
burn associated oedema of mouth, pharynx, larynx
Signs of airway obstruction
restlessness
cyanosis
low SpO2
Respiratory distress
rising respiratory rate
paradoxical movement of the chest and abdomen
use of accessory muscles, sternal, intercostal, subcostal recession
wheeze or prolonged expiration - intrathoracic obstruction (trachea or bronchi)
Stridor - extrathoracic obstruction (pharynx, larynx, upper trachea)
visible swelling of tongue, pharynx or neck
external signs of injury to face, mouth, mandible or neck
dysphonia
How to insert an OPA in a child less than 8 years
Insert under direct vision, concave side down, using a tongue depressor.
Indications for intubation
Airway obstruction persists despite oropharyngeal (Guedel) airway.
Adequate ventilation not possible via bag and mask ventilation;
Needs definitive airway protection;
Unresponsive to painful stimuli
Flaccid limbs, decerebrate/decorticate posturing; GCS <8.
Needs prolonged ventilation;
Respiratory burn injury.
calculating endotracheal tube size
Age/4 + 4 mm internal diameter (ID)
Rickets
defective mineralization or calcification of bones before epiphyseal closure in immature mammals due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium
Henoch Schonlein purpura triad
purpuric rash on the extensor surfaces of limbs (mainly lower) and buttocks,
joint pain/swelling and
abdominal pain.
comments age group for Henoch Schonlein purpura
2-8 years
Renal manifestations in Henoch Schonelin purpura
Haematuria is present in 90% of cases, but only 5% are persistent or recurrent. Less common renal manifestations include proteinuria, nephrotic syndrome, isolated hypertension, renal insufficiency and renal failure (<1%). Renal involvement may only present during the convalescent period.
Investigations in meningococcal
BLOOD CULTURE Meningococcal PCR (2-5ml in EDTA tube) if blood cultures have been obtained post-antibiotics (including prior oral antibiotics) Full blood count and differential Glucose, urea and electrolytes Coagulation screen if appropriate
antibiotics in meningococcal
ceftriaxone 50mg/kg
Chemoprophylaxis for meningococcal
Rifampicin
Side effects of rifampicin
causes orange-red discolouration of tears, urine and contact lenses, and may also cause skin rashes and itching, and gastrointestinal disturbance. It negates the effect of the oral contraceptive pill and should not be used in pregnancy, breastfeeding women, or severe liver or renal disease.
Petechiae or purpura are non blanching. True or false?
True
Scissor walking
where the knees come in and cross
cerebral palsy
persistent but not unchanging disorder or movement and posture due to a defect or lesion of the developing brain
brain part damaged in spastic cerebral palsy
motor cortex or corticospinal tracts
brain part damaged in dyskinetic CP
basal ganglia
brain part damaged in ataxic CP
cerebellum
Narcolepsy
recurrent periods of an irrepressible need to sleep, lapsing into sleep or napping that occurs within the same day. This must occur 3 times per week over 3 months
Sleep walking
partial arousal from sleep during slow-wave stages 3 and 4. It is most common during the initial third stage of the sleep period.
bruxism
(persistent grinding of the teeth) is considered a stereotyped movement disorder or rhythmic disorder.
night terrors
very dramatic awakenings that happen during the night in the first few hours of sleep
School Refusal
Severe difficulty attending school resulting in prolonged absence. Associated with severe emotional upset and absence of antisocial characteristics. Children are often at home with the parents knowledge, despite reasonable efforts by parents to enforce attendance.
How does school refusal differ to truancy?
The child who truants avoids school because they want to engage in activities (often antisocial in nature) that are typically outside school/home. The school refuser often wants to be at school but cannot summon the courage to go due to anxiety.
common reasons for school refusal
Bullying (32%) Transition to high school (29%) Legitimate absence due to illness (29%) Family stress (15%) Academic problems (12%) Illness in others (10%) Traumatic life event (7%) Parent returning to work (7%) Fear/difficulties with teacher (7%) Change of school (7%) Divorce/separation (5%)
Intervention for school refusal
Relaxation CBT Social skills training Answering questions re: absence Brainstorming possible responses Practicing role play Assertiveness Dealing with bullying Joining in with groups Exposure Imaginal: Confronting the situation through imagination In vivo: Facing the situation by physically confronting the feared situation
features of Haemolytic Uremic syndrome
microangiopathic haemolytic anaemia
thrombocytopenia
acute renal insufficiency
causes of acute nephritis
postinfectious glomerulonephritis Henoch Schonlein purpura IgA nephropathy Lupus erythematosus Membranoproliferative glomerulonephritis vasculitis
Benign focal epilepsy: where do seizures arise from
Rolandic or sylvan cortex
Most children grow out of benign focal epilepsy. Tru or false
True
Fanconi Syndrome
disease of the proximal renal tubules[1] of the kidney in which glucose, amino acids, uric acid, phosphate and bicarbonate are passed into the urine, instead of being reabsorbed.
Type 1 Distal RTA
impairment in hydrogen ion secretion in the distal tubule
most likely electrolyte abnormality in pyloric stenosis?
Hypocholaeremic Hypokalemic Metabolic Alkalosis
Risk factors for pyloric stenosis
male
firstborn
caucasian
parental history of HPS
Type 2 renal tubular acidosis
impaired HCO3 resorption
Type 4 renal tubular acidosis
Decrease in aldosterone secretion or activity
Battle’s sign
bruising behind the ear following basilar skull fracture
Wilms tumour
nephroblastoma
Wilms tumour associations
WAGR (rare genetic syndrome in which affected children are predisposed to develop Wilms tumour, Aniridia, Genitourinary abnormalities and Retardation) 11p13 deletion
Phaeochromocytoma
catecholamine secreting tumour from chromaffin cells
Genetics of phaeochromocytoma
autosomal dominant; associated with neurofibromatosis, MEN 2A and MEN 2B, tuberous sclerosis
Clinical Presentation of phaeochromocytoma
episodic severe hypertension, palpitations and diaphoresis, headache, abdominal pain, dizziness, pallor, vomiting, sweating, encephalopathy
Retinal examination: papilloedema, haemorrhages, exudate
most common type of brain tumours?
Infratentorial
most common infratentorial brain tumour
juvenile pilocytic astrocytoma
classic site of a juvenile pilocytic astrocytoma?
cerebellum
tests recommended for someone with anal agenesis
Cardiac echocardiogram will be needed to rule out heart anomalies.
Renal ultrasound will be necessary to identify any urinary anomalies.
Spine MRI will be required to rule out a tethered cord or abnormal attachment of the spine cord to the vertebrae. A untreated tethered cord may lead to bowel and bladder dysfunction.
Waht is important to consider in a child with bow legs?
rickets
What do you measure in a child with bow legs?
ICS - intercondylar separation: distance between medial femoral condyles
When do you refer a child with bow legs
when at 4 years of age the ICS > 6cm
when are children usually knock kneed
from 2-8 years
what to monitor with knock knees
monitor IMS - intermalleolar separation: distance between medial malleoli
Diagnosis of oligohydramnios
MVP
Corrigans syndrome
Congenital aortic regurgitation
When to refer with knock knees
IMS > 8cm
thalassemia
defects in production of the α or β chains of hemoglobin resulting imbalance in globin chains leads to ineffective erythropoiesis and hemolysis in the spleen or BM
Aphalia
born without a penis, in a patient with otherwise typical male anatomy
What HLA types are commonly associated with type 1 diabetes?
HLA/ DR3, HLA/ DR4 (located on chromosome 6))
Kussmual respirations
rapid, shallow breaths that often occur in DKA, respiratory response to compensate for metabolic acidosis
most common type of congenital diaphragmatic hernia?
Bochdalek Hernia
Morgagni Hernia
characterised by herniation through the foramina of Morgagni which are located immediately adjacent and posterior to the xiphoid process of the sternum
Diaphragm Eventration
the diagnosis of congenital diaphragmatic eventration is used when there is abnormal displacement (i.e elevation) of part or all of an otherwise intact diaphragm into the chest cavity
occurs because in the region of eventration the diaphragm is thinner
childhood apraxia of speech
developmental verbal dyspraxia also known as childhood apraxia of speech is an inability to utilise motor planning to perform movements necessary for speech during a child’s language learning process.
common causes of liver disease in the neonate?
bacterial sepsis
congenital infection
congenital biliary atresia
the common bile duct between he liver and the small intestine is either blocked or absent
Allagile Syndrome
rare autosomal dominant condition also presenting with prolonged jaundice
Allagile Syndrome features
triangular facies, butterfly vertebrae on spinal Xray , posterior embryotoxon on eye examination and pulmonary valve stenosis.
What Gi atresia has a strong association with Down Syndrome?
Duodenal atresia
Which inflammatory bowel disease involves only the lining of the intestine?
UC
Hydrocele
collection of fluid within the processes vaginalis (PV) that produces swelling in the inguinal region or scrotum
Silk glove sign
Gently passing the fingers over the pubic tubercle may reveal a PPV. The thickened cord of a hernia or hydrocele sac within the spermatic cord provides the feel of 2 fingers of a silk glove rubbing together.
causes of a reactive hydrocele
Trauma
Torsion
Infection (eg, epididymo-orchitis)
Abdominal or retroperitoneal operations that impair lymphatic drainage
most common inguinal hernia in children?
Indirect hernia
What is Noonan syndrome?
relatively common autosomal dominant congenital disorder that affects both males and females
Features of Noonan syndrome?
congenital heart defect (typically pulmonary valve stenosis; also ASD and hypertrophic cardiomyopahty)
short stature
learning problems
pectus excavatum
impaired blood clotting
characteristic configuration of facial features including a webbed neck and a flat nose bridge
pathophysiology of Noonan syndrome
is a RASopathy and caused by a disruption in the RAS-MAPK pathway signalling
main heart abnormality in Turner Syndrome?
coarctation of aorta or aortic stenosis
what is the commonest congenital cyanotic heart disease
tetralology of fallot
Noonans syndrome is associated with what valvular disease?
Pulmonary stenosis
Eisenmeger’s syndrome
the process in which a left to right shunt caused by a congenital heart defect in the fetal heart causes increased flow through the pulmonary vasculature, causing pulmonary hypertension, which in turn causes increased pressures in the right side of the heart and reversal of the shunt into a right-to-left shunt.
fixed splitting of te second heart sound is a feature of what
arial septal defect
What is Hess’s test?
test of platelet adhesion and aggregation
name 5 causes for neck stiffness in a child
- Meningitis
- Meningeal luekaemia
- Tonsillits
- Subarachnoid haemorrhage
- Metoclompramide adverse effect
Why do you not give a baby aspirin?
Risk of Reye’s syndrome
What is the surgery called for undescended testicles?
orchioplexy
Where is a cystic hygroma commonly found?
left posterior triangle of the neck and armpits.
what percent of Marfan syndrome is a result of spontaneous mutations?
25%
Features of infants of diabetic mothers
Hypoglycaemia (as the fetus has been exposed to high circulating glucose levels resulting in the insulin hypersecretion and hence macrosomia) Congenital abnormalities Talipes Congenital heart defects Polycythaemia Hypocalcaemia Birth injuries/shoulder dystocia
what confirms the diagnosis of beta thalassemia?
An elevation of Hb A2 (2 alpha-globin chains complexed with 2 delta-globin chains) demonstrated by electrophoresis confirms the diagnosis of beta thalassaemia. The Hb A2 level in these patients usually is approximately 4-6%.
tetralology of fallot causes hypertophy of the?
Right ventricle
Left ventricular hypertrophy occurs with which congenital heart diseases?
a moderate sized ventricular septal defect
patent ductus arteriosus, and
coarctation.
What is the most common cardiology complication of Down Syndrome?
endocardial cushion defect.
Rate of spontaneous closure in VSD
> 50%
congenital rubella cardiology manifestations
Patent ductus arteriosus, pulmonary stenotic lesions and atrial septal defect.
CATCH 22 Syndromes
chromosome 22 micro deletion syndromes are the velocardial-facial syndrome
Cardiac, Abnormal Facies, Thymic Hypoplasia, Cleft Palate, Hypocalcemia
Test for phagocytic cell defects
neutrophil respiratory burst; best way is rhodamine dye
Test for agammaglobulinaemia
enumerate blood B cells - flow cytometry using dye conjugated monoclonal antibodies to B cell specific CD antigens (CD19, CD20
DiGeorge Syndrome
dysmorphogenisis of the 3rd and 4th pharyngeal pouches; micro deletion 22q11.2
worldwide what is the most common cause of adrenal insufficiency?
Tuberculosis
Treatment of adrenal crisis
Intravenous Fluids
Steroid Replacement
Treat Hypoglyaemia
Treat Hyperkalemia
What is Sandifer’s posturing? and what is it associated with?
Arching of the back
Reflux in infants
What is used to treat apnoea of prematurity
caffeine citrate
Tertiary Syphilis infection
cardiac or ophthalmic manifestations, auditory abnormalities, or gummatous lesions
Investigations for syphilis
Darkfield examinations and direct fluorescent antibody (DFA) tests of lesion exudate
cause of congenital syphilis
Fetal infection is a result of haematogenous spread from an infected mother, although transmission at the time of delivery can occur from direct contact with infectious genital lesions
Clinical features of congenital syphilis
an abnormally bulky placenta – histological examination should be done
hydrops fetalis due to severe anaemia and/or severe liver disease
lymphadenopathy, hepatosplenomegaly, jaundice
osteochondritis with typical radiological changes; arthropathy or pseudoparalysis
rhinitis (‘snuffles’)
vesiculobullous rash on back, legs, palms and soles, followed by desquamation
condylomata lata – fleshy lesions in moist areas of skin.
most common primary hepatic malignancy in childhood?
Hepatoblastoma
Where do HCC metastases usually occur?
lung and lymph nodes
Name the 2 malignant liver tumours in children?
Hepatoblastoma
Hepatocellular carcinoma
most common benign liver tumour in children?
haemangioma
what tumour is the OCP associated with
hepatic adenoma
Absence epilepsy EEG
3 per second spike wave activity
infantile spasms EEG
hypsarrhythmia
Treatment for infantile spasms
ACTH, vigabatrin, benzodiazepines, prednisolone
Physical signs of starvation
Emanciated facies and body Fine body hair growth Dry hair Cold hands Slow pulse Low BP
Physical signs of bulimia
Dramatic weight fluctuations
Swollen salivary glands
Abraded knuckles
Dental carries
Schwachman diamond syndrome
Pancreatic insufficiency
Neutropenia
Malabsorption
Intestinal lymphangiectasia
Lymph fluid leaks into bowel lumen
Steatorrhoea
Protein losing enteropathy
Disccaridase deficiency
Osmotic diarrhoea
Acidic stools
Abetalipoproteinaemia
Severe fat malabsorption
Acanthodians
Very low to absent plasma cholesterol, triglycerides
Pendred syndrome
Genetic disorder leading to congenital bilateral sensorineural hearing loss and goitre with occasional hypothyroidism
Diagnostic sign for necrotising enterocolitis on X-ray
Pneumatosis intestinalis
Complications of phototherapy
Loose stools
Erythematous macular rash
Overheating, leading to dehydration
Bronze baby syndrome - occurs with direct hyperbilirubinaemia
Clinical features of conjugated hyperbilirubinaemia
Pale stools
Dark urine
Conjugated is not lipid soluble
Causes of conjugated hyperbilirubinaemia
Biliary atresia
Choledochal cyst
Neonatal hepatitis
Galactossaemia
Features of bilirubin encephalopathy
Hypertonia Arching Retrocollis Opisthotonus Fever High pitched cry Seizures
Kernicterus
Sensorineural deafness Athetoid cerebral palsy Paralysis of upward gaze Intellectual function less affected Damage on MRI mainly in globus pallidus
Most likely cause of early jaundice
Haemolysis
What does the newborn screening heel prick test for?
Cystic fibrosis pKU Galactossemia Primary congenital hypothyroidism Rare metabolic conditions
Signs of primary congenital hypothyroidism
Prolonged jaundice Umbilical hernia Constipation Macroglossia Feeding problems Hypotonia
Choice of imaging in SCFE
X-ray - frog leg lateral view
Risk factors for developmental dysphasia of the hip
Female
Family history
Breech presentation
Oligohydramnios
Treatment for DDH
Pavlik harness : under 6 months
Closed reduction
Open reduction: much older patient if closed reduction not possible
Investigation of choice for DDH
Ultrasound
Perthes disease
Self limited AVN of femoral head
Characteristics of Perthes disease
More common in males
Presents at 4-10 years
Sometimes bilateral
Associated with family history, low birth weight, abnormal pregnancy, delivery, history of trauma to affected hip
Treatment for Perthes disease
Bracing may be used in mild cases
Femoral neck and ace tabular osteotomies may be required to correct more sever abnormal femoroacetabular alignment
How does the leg appear in SCFE
Externally rotated and shortened
Conditions that may predispose a child to SCFE
Hypothyroidism
Hypopituitarism
hyperparathyroidism
Treatment for SCFE
Surgical pinning
Potential complications of SCFE
A vascular necrosis of femoral head Chondrolysis Deformity Long term degenerative osteoarthritis Limb length discrepancy
Salter Harris fracture
A fracture that involves the epiphyseal plate or growth plate of a bone
Type 1 salter Harris fracture
Transverse Fracture through the growth plate (physis)
Type 2 salter Harris fracture
A fracture through the growth plate and the metaphysis sparing the epiphysis
Type 3 salter Harris fracture
A fracture through the growth plate and epiphysis sparing the metaphysis
More common in older Children where the growth plate had started to close
Type 4 salter Harris fracture
Vertical fracture through the growth plate, metaphysis and epiphysis
Type 5 salter Harris fracture
Compression fracture of the growth plate
Complications of physeal injuries
Avascular necrosis Direct crushing The formation of a bony bar Non Union Hyperaemia
Fragile x syndrome
Inherited cause of intellectual disability
Physical features of fragile x syndrome
Long face
Protruding ears
Large testes
Tall stature
Syndrome associated with tall stature and large head
Sotos syndrome
Syndrome associated with short stature with webbed neck, widely spaced nipples, micrognathia and heart disease
Turner or Noonan syndrome
Where are osteosarcoma found?
Metaphyses of long bones
most commonly seen around the knee and in the proximal humerus
Who gets osteosarcoma?
often occur in young adults
also seen in the elderly in association with Paget’s disease
Xray appearance of osteosarcoma
Periosteal elevation (Codman’s triangle) and a ‘sunburst’ appearance due to soft tissue involvement
5 year survival rate of osteosarcoma?
50%
Features of an insignificant heart murmur in a child?
Systolic
soft and short duration
usually located along the left sternal border
Complications of mumps
viral meningitis, encephalitis, orchitis, oophoritis, pancreatitis, thyroiditis, deafness
4Ds of epiglottitis
Drooling
Dysphagia
Dysphonia
Distress
What not to do in epiglottitis
Never lie the child down
Never examine the throat with a spatula
never take a lateral neck xray
Treatment for epiglottitis
Humidified oxygen by face mask
intubation
antibiotics - ceftriaxone
prevented with Hib Vaccine
Wilm’s Tumour Associations
Hemihypertrophy aniridia WAGR Beckwith-Wiedemann Syndrome Denys-Drash Syndrome
Denys Drash Syndrome
Gonadal dysgenesis and nephropathy leading to renal failure
Associated with Wilm’s tumour
Beckwith-Wiedemann Syndrome
Enlargement of body organs, hemihypertrophy, macroglossia
Differentials for an abdominal mass in children
Faeces
Neuroblastoma
Nephroblastoms
Most common congenital cause of non communicating hydrocephalus
Slyvian aqueduct stenosis
congenital causes of non communicating hydrocephalus
Slyvian aqueduct stenosis
Dandy-Walker Malformation (obstruction at 4th ventricle)
Arnold Chiari Malformation
Supresellar arachnoid cysts
Most common location of brain tumours in children
posterior fossa
Kernicterus
unconjugated bilirubin in the basal ganglia and brainstem causing neurological symptoms - seizures, hypotonia, opisthotonus, sensorineural hearing loss, paralysis of upward gaze
Treatment for hyperbilirubinaemia
Phototherapy
- ionises the unconjugated bilirubin so it can be excreted
Complications of phototherapy
Loose stools
eryhtmeatous maccular rash
over heating leading to dehydration
bronze baby syndrome
Which side do most Bochdalek hernias occur on?
Left
name the 3 layers of the omphalocele sac?
Peritoneum
Amnion
Wharton’s jelly
What syndrome is omphalocele associated with
Beckwidth-Wiedemann Syndrome (overgrowth disorder)
- hemihypertrophy, hyperinsulinism, risk of Wilms’ tumour
Also associated with Edwards and Patau syndrome
WHat congenital condition is umbilical hernia associated with?
Congenital Hypothyroidism
What condition causes bile stained vomit (green vomit)
malrotation with volvulus
procedure to repair malrotation with volvulus
Ladds procedure with laparotomy
Gold standard Imaging for malrotation with volvulus
Upper GI contrast study
2 reasons for not passing meconium
meconium ileus
Hirschprung’s disease
meconium ileus
obstruction of the terminal ileum by abnormally tenacious meconium
Xray findings in necrotising enterocolitis
pneumatosis intestinalis
How do you prevent NEC
antenatal corticosteroids
Symptoms of pellagra
dermatitis, dementia, diarrhoea
What is pellagra
means “rough skin”
deficiency of niacin
Xray findings in viral pneumonia
could be clear, could show peribronchial exudates
cause of bronchopneumonia in kids
viral
Definitive Test in congenital adrenal hyperplasia
17 hydroxyprogesterone (after 48 hours)
Treatment for CAH
Life long hydrocortisone and fludrocortisone (aldosterone)
Early onset neonatal sepsis
Sepsis within the first 48 hours, over 80% are due to Group B streptococcus
Late onset neonatal sepsis
after the first 48 hours
organisms acquired either around the time of birth or in hospital
>70% dt coagulase negative staphylococcus and staph auresu
Risk Factors for early onset neonatal sepsis
Prolonged rupture of membranes (>18 hours)
foetal distress
maternal pyrexia (>38) or overt infection eg UTI, gasro
multiple obstetric procuedures
preterm delivery
history of previous GBS infection in previous infnant
GBS bacteriuria
Treatment for early onset sepsis
benzylpenicillin + gentamicin
Maculopapular rash on palms and soles, snuffles, periostitis
Syphilis
Hydrocephalus, intracranial calcifications and chorioretinitis
Toxoplasmosis
Cataracts, deafness, and heart defects, extramedullary haematopoesis
Rubella
Microcephaly, periventricular calcifications deafness, thrombocytopenia, petechiae
CMV
Limb hypoplasia, cutaneous scars, cataracts, chrioretinitis, cortical atrophy
Congenital varicella
Bilateral purulent conjuctivitis in the first few days of life
Gonococcal conjuctivitis
TReat with IV ceftriaxone and frequent eye irrigation
Endocrine disorder more likely in Down Syndrome
Hypothyroidism
MSK Disorder more likely in Down Syndrome
Atlanto-axial instability
most common neural tube defect
meningomyelocele: a sac like structure protruding through a defect in the vertebral arches
mandibular hypoplasia, glossoptosis, cleft soft palate
Pierre Robin Sequence
* can be associated with Foetal Alcohol syndrome or Edwards
Broad, square face, short stature, self injurious behaviour. Deletion on chromosome 17
Smith Magenis
Hypotonia, Hypogonadism, hyperphagia, skin pciking, aggression, deletion on paternal chromosome 15
Prader Willi
Seizures, strabismus, sociable with episodic laughter. Deletion on maternal chromosome 15
Angleman Syndrome
Elfin appearance, friendly, increased empathy and verbal reasoning ability, deletion on chromosome 7
Williams Syndrome
IUGR, hypertonia, distinctive facies, limb malformation, self injurious behaviour, hyperactive
Cornelia De Lange
Microcephaly, smooth philtrum, thin upper lip, ADHD like behaviour, most common cause of mental retardation
Foetal Alcohol Syndrome
Most common type of mental retardation in boys. CGG repeats. Macrocephaly, large ears, macro-orchidisim
Fragile X Syndrome
Autosomal dominant or associated with advanced paternal age. Short palpebral fissures, white forelock and deafness
Waardenburg syndrome
Main features of Von Hippel Lindau Syndrome
Spinal or cerebellar Haemangioblastoma
Renal Cell carcinoma
Phaeochromocytoma
Main features of Sturge Weber Syndrome
Port Wine Stain + Glaucoma + seizures + mental retardation
sickle cell disease eitiology
glutamine is replaced by valine on the beta globin chain
what is dactilytis a common presenting symptom of?
Sickle cell disease
what do you see in blood smear in haemolytic uremic sydnrome?
Schistocytes
what conditions can cause a 5 year old boy to have elevated levels of foetal haemoglobin
Pople with haemoglobinopathies such as aplastic anaemia or thalassemias have a slower decline of fetal haemoglobin
Genetic translocation associated with Burkitt Lymphoma
translocation of the c-myc oncogene
what is the fastest growing malignant tumour?
Burkitt Lymphoma
Poor prognostic factors in ALL
WCC >50,000
Age 10
chromosomal translocation
CNS involvement
What is the Philadelphia Chromosome
Translocation between chromosome 9 and 22
creates the BCR-ABL fusion gene
results in the production of a specific tyrosine kinase (wiht increased activity)
highly associated with CML, also occurs in about 5% of children with ALL
cisplatin toxicity
acoustic nerve damage + renal failure
Bleomycin toxicity
Pulmonary fibroiss
Doxorubicin toxicity
Cardiotoxic
Vincristine toxicity
peripheral neuropathies
Pathogens in chronic suppurative otitis media
Pseudomonas aeruginosa and Staphylococcal Aureus
What are the live vaccinations?
Varicella MMR Rotavirus Oral typhoid Yellow Fever
Measles complications
Otitis Media corneal ulceration pneumonia febrile convulsions encephalitis Sub acute sclerosing panencephalitis
Chicken pox complications
secondary bacterial infection
pneumoniae
encephalitis
Virus causing measles
RNA paramyxovirus
Systemic JIA Symptoms
HIgh fever, arthritis, salmon pink rash
ECG finding in Wolff Parkinson White
Delta wave (slurred upstroke)
what drugs are contraindicated in WPW with AF
Av nodal blockers (adenosine, Bblockers, calcium channel blockers, digoxin, lignocaine)
Definitive treatment for WPW
Radiofrequency ablation
venous hum
continuous murmur ins supraclavicualr region, reduces on lying down or with pressure on neck
Still’s murmur
low pitched vibratory systolic murmur, increases with lying down
Where is a PDA murmur best heard?
just below the left clavicle
what is endocardial cushion defect associated with
Atrioventicular septal defect
Holt Oram Syndrome
Autosomal dominant Bone defects (hands and arm) and heart defect ASD and first degree heart block
heart defect in William’s syndrome
Aortic stenosis
Purpura Fulminans
- life threatening and rare form of non-thrombocytopenic purpura that may follow such infections such as scarlet fever, varicella, measles and some other viral infections
- typically there are rapidly spreading skin haemorrhages involving the buttocks and lower extremeties
- congenital deficiencies of either protein C or S are the cause of neonatal purpura
treatment for minor bleeds in Haemophilia A
Desmopressin
Treatment for major bleeds in haemophilia A
Factor VIII concentrate
chance of replapse in kids with nephrotic syndrome (minimal change disease)
80%
Triad of Haemolytic uremic syndrome
Microangiopathic haemolytic anaemia
Thrombocytopenia
Acute renal insufficiency
Ehler-Danlos Syndrome
Inherited connective tissue disorder
joint hypermobility, fragile skin and easy bruising
Gold standard test for pyelonephritis
DMSA (static renogram showing state of parenchyma)
SPA insertion point
Midline lower abdominal crease
what is the most common cause of severe obstructive uropathy in children?
posterior urethral valves
Absence seizures on EEG
3 second spike and wave pattern
management of absence epilepsy
valproic acid or ethosuximide
treatment for infantile spasms
ACTH
coup injury
acceleration injury where the damage to the brain is at the point of impact
Contra coup injury
Deceleration injuries and are located at the opposite site of the impact
How do you diagnose Guillain Barre
Lumbar puncture: increase in CSF protein
what cancers occur in von Hippel Lindau Disease
Retinal and CNS haemangioblastoma and Renal cell carcinoma
what stage sleep do night terrors occur in
Non Rem sleep stage 4
absence of the roof of the 4th ventricle with cystic dilation and enlargement of the posterior fossa. What is this defect called?
dandy Walker malformation, which is associated with agenesis or hypoplasia of the cerebellar vermis
often causes obstructive hydrocephalus
what is the most common Arnold-Chiari malformation
Type 1: caudal displacement of the cerebellar tonsils, causing subsequent downward displacement of the 4th ventricle
2 and 3 are more severe and associated with meningomyeloceles and encephaloceles
What is TOurette’s also associated with
OCD and ADHD
what mutation is associated with Duchenne muscular dystrophy
Xp21 mutations
What investigations would you do in Duchenne muscular dystrophy
CK levels
EMG
Genetic testing: Xp21 mutation
Muscle Biopsy: abscence of dystrophin
name the 3 types of CP
Spastic
Dyskinetic
Ataxic
what are the 4 domains of development
Gross motor
Fine motor and vision
Hearing, speech and language
Social emotional and behavioural
what drug is used for meningococcal prophylaxis
Rifampicin
what are the minor Jones criteria for rheumatic fever
arthraligia prolonged PR raised ESR/ CRP Previous Hx of RF or RHD Fever
Gold standard test for diagnosis of biliary atresia
INtraoperative cholangiogram
Genu Varum
Bow legs
Poor prognostic factors in ALL
Age 10 WCC >50 CNS involvement Malignant cells with hypoploidy Chromosomal translocation abnormalities
commonest glomerular causes of microscopic haematuria
IgA nephropathy
Alport Syndrome
Thin basement membrane disease
Blount’s disease
Severe bow legedness
caused by obesity
they squash their gorwth plate
Craniotabes
Softening of the skull that usually occus around the suture lines and disappears ithin days to a few weeks after birth
may be secondary to calcium deficiency and osteogenesis
What are the Xray features of rickets
widening of the epiphyseal plate, cupping, splaying and fraying of metaphysis
Treatment for mycoplasma pneumonia
erythromycin
what does organic phosphate poisoning inhibit
acetylcholinesterase
Leads to accumulation of ACh in the body
Organophosphate poisoning symptoms
SLUDGEM
salivation, lacrimation, urination, defecation, GI motility, Emesis, miosis
Treatment for organophosphate poisoning
Atropine to treat muscarininc effects
Oxime therapy: reactives acetylcholineterase
Treatment for salicylate overdose
Treat with activated charcoal
Thiamine deficiency
BeriBeri
Neuritis, oedema,, cardiac failure
what do Howell Jolly Bodies indicate
Hyposplenism
How to you treat nephrogenic diabetes inspidus
Thiazide diuretics
Spironolactone
Aldosterone antogneist
potassum sparing diuretic
atropine
muscarinic antagonist
congenital heart causes of neonatal collapse
- severe aortic coarctation
- aortic arch interruption
- Hypoplastic Left Heart Syndrome
- Critical Aortic Stenosis
what is aortic coarctation and what level does it mostly occur
Narrowing of the aorta, level of ductus arteriosus
what is coarctation of the aorta commonly associated with
bicuspid aortic valve and Turners syndrome
Causes of a systolic murmur in a child
- physiological murmur: Stills murmur, venous hum
- Aortic stenosis
- pulmonary stenosis
- ASD
- Coarctation
- VSD
ventolin deposition in lung
40%
What variable are lung function values based on
height
What happens in tumour lysis syndrome
cells lyse releasing K+, uric acid, phosphate
What does T cell leukaemia often presnet with
mediastinal lump
Prevalence of conduct disorder
3%
HSV in neonate
Skin Eye and Mouth Disease Chorioretinitis Conjunctivitis Vesicular lesions on mouth and skin treat with acyclovir
Causes for racoon eyes
Basilar Skull fracture, Neuroblastoma
Hutchinson Triad
8th cranial nerve deafness, interstitial keratitis, Hutchinson Incisors
Topical antibiotics for impetigo
Bactroban
kartagener syndrome
primary ciliary dyskinesia + Situs Invertus
Fat soluble vitamins
ADEK
Procedure for malrotation with volvulus
Ladd procedure
usher Syndrome
Hearing loss + Retinitis pigmentosa
Hearing test in newborns
Oto acoustic emissions
hearing loss + kidney problems
Alport Syndrome
Neonatal meningitis pathogens
- S. agalactiae (group B strep)
- E Coli
- Listeria Monocytogenes
Causes of Lobar Pneumonia
Strep pneumonia
Haemophilus influenza
Staph Aureus
Forchheimer spots
fleeting enanthem seen as small, red spots (petechiae) on the soft palate in 20% of patients with rubella. They precede or accompany the skin rash of rubella. They are not diagnostic of rubella, as similar spots can be seen in measles and scarlet fever
Orbital cellulitis
- Surgical emergency
- proptosis
- limited eye movements
- horizontal eye movements affected
- decreased visual acuity
- pain on occular movement
cause of excessive eye watering in infant
Nasolacrimal duct obstruction
treatment for infantile haemangioma
beta blocker
Do congenital melanocytic naevi usually grow with the child?
Yes they proportionally grow with the child
Neurocutaneous melanocytosis
rare syndrome defined by the proliferation of melanocytes in the CNS and the presence of a congenital melanocytic naevus
Can present with raised ICP
What features about congenital melanocytic naevi increase the risk of melanoma
large size crosses the spine multiple congenital satellite naevi neurocutaneous melanosis early childhood
oxygen saturations in severe asthma
Oxygen saturations in mild asthma
> 95%
FEV1 in severe perisistent asthma
FEV1 in moderate perisstent asthma
Canavan disease
- rare inherited disorder that damages the ability of nerve cells in the brain to send and receive messages
- leukodystrophy
Vascular Ring
Congenital defect in which there is an abnormal formation of the aorta and/or its surrounding blood vessels
- the trachea and oesophagus are completely encircled and sometimes compressed by a “ring” formed by these blood vessels
Can lead to breathing and digestive difficulties
Tay Sachs Syndrome
- caused by a total deficiency to hexosaminidase
- a resulting accumulation of gangliosides in the brain
- the infantile form is fatal by age 3 or 4 with early progressive loss of motor skills, dementia, blindness, macrocephaly and cherry red retinal spots
- the juvenile onset form presents with dementia and ataxia, with death at age 10-15
- the adult form has progression of neurological symptoms following clumsiness in childhood and motor weakness in adolescence
Risk Factors for Cleft palate
Asian ancestry
Poor nutrition
family history
parental age (esp dad)
Treatment for cleft lip/ palate
Surgery to correct cleft lip at 3-6 months
Surgery to corrent cleft palate at 6-12 months
complications of cleft lip/palate
problems with feeding
ear infections
speech trouble
pyshcological issues
Todd’s Paralysis
focal part of weakness in a part of the body after a seizure
usually subsides within 48 hours
TB meningitis
lymphocytosis, normal to increased protein, LOW GLUCOSE
Difference between TB and viral meningitis on CSF
TB has low glucose
Findings of TB meningitis on contrast CT
Enhancement of the basal cisterns
