Paediatrics Flashcards
(558 cards)
1
Q
What are the hormones significant in growth?
A
- Growth hormone
- Thyroid hormone
- Testosterone and Adrenal Androgens
- Oestrogens
2
Q
Causes of transient hypothyroidism in neonates
A
- maternal antibody mediated
- Iodine deficiency
- prenatal exposure to antithyroid medications
3
Q
Thyroxine is responsible for what growth in the foetus?
A
Brain and Bone
4
Q
Earliest Sign of puberty in boys
A
Testicular Enlargement
around 11 years
5
Q
Most common cause of short stature?
A
Familial
Constitutional Growth Delay
6
Q
What causes Slapped Cheek?
A
Parvovirus B19
7
Q
What is important to inform patients about Slapped cheek infections
A
Return if pain and swelling of joints in hand and feet
8
Q
When do babies get their first tooth?
A
5-9 months
9
Q
Definition of infantile Colic
A
unexplained paroxysms of irritability and crying for >3 hours/day, >3 d/week for >3wks in an otherwise healthy well fed baby
10
Q
What is hypospadius?
And what are the different types?
A
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
11
Q
What is the most common cause of ambiguous genitalia
A
Congenital Adrenal Hyperplasia
12
Q
What are the 3 hormones the adrenal cortex produces?
A
cortisol
aldosterone
androgens
13
Q
What is Congenital Adrenal Hyperplasia?
A
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
14
Q
When a child with CAH becomes unwell it important to administer what?
A
Hydrocortisone
15
Q
What is the main hormone controlling puberty
A
GnRH
16
Q
Delayed Puberty Definition
A
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.
17
Q
thelarche
A
Onset of secondary breast development
18
Q
pubarche
A
appearance of sexual hair
19
Q
What is Harrison’s Sulcus
A
A horizontal groove along the lower border of the thorax corresponding to the costal insertion of the diaphragm
Occurs in chronic asthma
20
Q
Findings on Xray of child with asthma?
A
bronchial thickening
Hyperinflation
Flattening of diaphragm
Focal atelectasis
21
Q
Treatment for croup
A
Dexamethasone 0.15mg/kg oral
22
Q
Croup
A
subglottic layrngitis
narrowing caused by inflammation
23
Q
Cystic Fibrosis Gene
A
CFTR gene found on chromosome 7
delta F508 mutation
24
Q
Newborn Screening for CF
A
- 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)
25
Neonatal Cystic Fibrosis Presentation
meconium ileus
jaundice
antenatal bowel perforation
26
Infancy Cystic Fibrosis Presentation
pancreatic insufficiency with steatorrhoea and failure to thrive
anaemia, hypoproteinemia, hyponatremia
27
Investigation for CF
Sweat chloride test
28
Most common cause of stridor
croup
29
Most common cause of persistent stridor
laryngomalacia
30
Marfan Syndrome
connective tissue disorder caused by mutations in the fibrillin gene at chromosome 15q21.1
31
CVS features of Marfan Syndrome
Mitral valve prolapse
| Dilatation of the ascending aorta in 50%
32
Eye features of Marfan Syndrome
Ectopia lentis
myopia
retinal detachment
33
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
34
Inheritance of Marfan Sydrome
Autosomal dominant, 25% are new mutations
35
Turner Syndrome
Lack of or abnormality of the second X chromosome (only in girls)
36
Main features of Turner Syndrome
Short, lack ovaries that function correctly , lack of sexual development, infertility
37
Physical features of Turner Syndrome
Webbing of the neck, puffy hands and feet, short stature, coarctation of the aorta or other heart abnormalities
38
Klinefelter Syndrome
genetic disorder in which there is at least one extra X chromosome to a standard human male karyotype (47, XXY)
39
Neurofibromatosis inheritance
Autosomal dominant
40
what chromosome is affected in neurofibromatosis
17
41
What are the common characteristics of neurofibromatosis?
cafe au lait spots
neurofibromas
lisch nodules
42
what is the most important regular check up in neurofibromatosis?
eyes : optic gliomas
43
Classical neurological manifestations of tuberous sclerosis?
subependymal nodules and cortical tubers
44
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
45
Signs and symptoms of tuberous sclerosis?
seizures, intellectual disability, developmental delay, behavioural problems, skin abnormalities, lung and kidney disease
46
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
47
What causes congenital melanocytic naevi?
Congenital melanocytic naevi are caused by localised genetic abnormalities resulting in the proliferation of melanocytes
48
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
49
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
50
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
51
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
52
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
53
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
54
Common pathogens in croup
Parainfluenza virus
| RSV, influenza A and B, adenovirus
55
X-ray sign for croup
Steeple sign - narrowing of subglottic trachea
56
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
57
Antibiotics for epiglottitis
Ceftriaxone
58
Epiglottitis pathogens
Hib
Strep pyogenes
Pneumoniae
Staph aureus
59
Common pathogen in bronchiolitis
RSV
60
Asthma spirometer
FEV1 12%
61
Next step after determining foreign body
Rigid bronchoscopy
62
Where are aspirated objects most commonly found?
In children equally in right and left lungs
| Older children more common on the right
63
Long term complications of foreign body aspiration
Pneumonia, abscesses, perforation, bronchiectasis and erosion
64
Chlaymidia trachomatis pneumonia
Conjunctivitis, tachypnoea, staccato cough, afebrile
Usually 5-14 days of age: conjunctivitis
2-12 weeks: respiratory symptoms
65
conservative treatment for reflux
upright positioning, feed thickening, reasurrance
66
surgical procedure for GORD
Nissen fundoplication
67
Sandifer Syndrome
disorder characterised by gastrointestinal symptoms and associated neurological features
Spasmodic torticollis and dsytonia
68
Hirschsprung Disease
disorder of the abdomen that occurs when part or all of the large intestine have no ganglion cells therefore cannot function
69
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
70
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.
71
First line treatment for constipation in children?
A stool softener like parrafin oil
72
Dyschezia
a healthy infant, straining and crying before passing soft stool
73
Complications of coeliac disease
osteoporosis
| malignancy - Non-Hodgkin’s lymphoma, Upper digestive tract malignancies
74
Serum antibodies Coeliac Disease
- Tissue transglutaminase (TTG)
- Antigliadin antibodies
- Anti-endomysial antibodies
75
Small bowel mucosal biospy coeliac disease
villous atrophy and crypt hyperplasia
increased number of llama cells and lymphocytes in lamina propria
increased intraepithelial lymphocytes
76
Coeliac Disease diagnosis
The presence of characteristic changers on small intestine biopsy in a symptomatic individual
complete symptom resolution on a gluten free diet
77
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
78
What age is intussusception most likely?
3-18 months
79
classical triad in intussusception
colicky abdominal pain + sausage shaped mass + red currant jelly stools
80
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
81
How do you confirm the diagnosis of malrotation with volvulus
barium meal
82
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.
83
What is an intestinal volvulus?
part of the bowel becomes twisted
84
What does APGAR stand for?
Appearance, pulse rate, grimace reflex, activity, respiratory rate
85
APGAR scoring for appearance
```
0 = pale or blue
1 = body pink, extremities blue
2 = pink
```
86
APGAR scoring for pulse rate
```
0 = absent
1 = 100
```
87
APGAR scoring for Grimace reflex
```
0= none
1= some
2= vigorous
```
88
APGAR scoring for activity
0=floppy
1= some tone
2=good flexion
89
APGAR Scoring for Respiratory rate
0=apnoeic
1= irregular, weak
2=active crying
90
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
91
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.
92
capillary naevi
faint pink lesions over the eyelids temples, upper lip, nape of neck: benign and nearly always fade completely
93
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
94
Bowel actions after birth
96% pass meconium by 24 hours and 99.9% by 48 hours
95
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
96
Conditions tested for in newborn screening
```
Cystic fibrosis
phenylketonuria
galactoseamia
primary congenital hypothyroidism
rare metabolic conditions
```
97
Newborn screening
Heel prick blood test collected 48-72 hours after birth
98
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
99
Inheritance of phenylketonuria
autosomal recessive
100
Galactossaemia
caused by a deficiency in the enzyme galactose-1-phospahate uridyltransferase that results in the accumulation of galactose and galactose - 1-phosphate
101
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
102
What is primary congenital hypothyroidism?
due to an absent, ectopic or malfunctioning thyroid gland
103
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
```
104
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.
105
Most common cause of acute gastro <5 years
Rotavirus
106
When do physical signs of dehydration become apparent?
When 4% of body weight is lost
107
Treatment for no/mild dehydration
Oral rehydration solution
108
Treatment for moderate dehydration
Nasogastric rehydration therapy
109
Treatment for severe dehydration
Intravenous dehydration
110
rehydration initial saline bolus dose
20ml/kg, repeat until shock is corrected
111
complications of acute gastroenteritis
1. Febrile convulsions
| 2. Sugar malabsorption
112
extraintestinal manifestation of Crohn Disease
growth retardation, anorexia, fatigue, delayed puberty, erythema nodosum, arthritis, clubbing, hepatitis and uveitis
113
hyphema
collection of blood in the anterior chamber of the eye
114
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
115
opthalmia neonatorium
conjuctivitis in first month of life
| Gonococcal, bacterial, herpetic, chlamydial (most common)
116
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
117
positive supporting reflex
infant held vertically, feet on a surface
| legs take body weight, may push up against gravity
118
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
119
Rooting reflex
stimulus near mouth - turns head towards stimulus
120
Moro reflex
Sudden head Extension (drop the head)
| Symmetrical extension, then flexion of all limbs
121
Grasp reflex
an object is placed in the palm at the base of the fingers
| Flexion of the fingers of the hand
122
sit without support
6-8 months
123
crawling
8-9 months
124
walking unsteadily
12 months
125
walks alone steadily
15 months
126
Head control
6-8 weeks
127
Talking red flags
Does not babble by 7 months
does not join words by 2 years
does not speak in sentences by 3 years
128
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
129
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
130
encephalospele
a midline sac protrudes that may contain brain
| hydrocephalus is common
131
spina bifida occulta
one or more vertebral arches are incomplete posteriorly but the overlying skin is intact
132
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
133
benefits of circumcision
prevention of phimosis and slightly reduced incidence of UTI, balanitis, cancer of the penis
134
milk carries
decay of superior front teeth and back molars in first 4 years of life
135
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
136
obesity
BMI > 95th percentile for age and height
137
organic cause of obesity
Prader Willi, Carpenter, Tuner, Cushing Syndromes, Hypothyroidism
138
Koplik spots
white spots on buccal mucosa
139
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.
140
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.
141
complications of measles
otitis media, pneumonia and encephalitis. Sub-acute sclerosing panencephalitis (SSPE) develops very rarely as a late sequela.
142
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.
143
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.
144
Roseola infantum pathogen?
caused by infection with herpesvirus 6 and occasionally HHV-7
145
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
146
Incubation period for chicken pox?
10-21 days
147
Ramsay Hunt Syndrome presentation
vesicels on the pinna of one ear and facial nerve palsy due to zoster of the geniculare ganglion
148
Epidemic Parotitis
Mumps - swelling pain and tenderness of the parotid glands
149
Kawasaki Disease
systemic vasculitis that predominantly affects children < 5 years of age
150
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
151
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
152
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
153
HSV -1
Primarily oropharyngeal
154
HSV-2
Primarily genital
155
commonest childhood HSV infection?
gingivostomatitis (HSV1)
156
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%
157
Herpes Neonatorium classification
Skin, eye, and mucous membrane (SEM) disease
Disseminated infection
CNS infection
158
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
159
pathogen of bone and joint infections?
staph aureus
160
complications of paediatric osteomyelitis?
```
DVT
meningitis
chronic osteomyelitis
Growth disturbances and limb length discrepancies
pathological fractures
```
161
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
162
Breastfed fed infants should feed how often?
Every 2-5 hours
163
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
164
Most common cause of blood stained milk
Trauma to the nipple
165
Introducing solids
4-6 months
166
Gowers sign
Patient uses arms to walk up own body from a squatting/ lying down position. Indicates proximal muscle weakness.
167
opisthotonos
Rigid spasm of the body with the back fully arched and the heels and head bent back
168
Signs of meningism
Brudzinski’s sign
Opisthotonos
Nuchal rigidity
Kernig’s Sign
169
Glucose in bacterial vs viral meningitis
Bacterial: low
Viral: normal
170
Protein in bacterial vs viral meningitis
Bacterial: high
Viral: low or normal
171
Lymphocytes in bacterial vs viral meningitis
Bacterial: bit high
Viral: very very high
172
If encephalitis is suspected give what mediciation?
acyclovir
173
Bacterial meningitis ABX < 2 months
Cefotaxime AND
| Benzylpenicillin*
174
Bacterial meningitis ABX > 2 months
Ceftriaxone
175
What to monitor in bacterial meningitis?
Neurological observations
weight and head circumference
electrolytes and glucose
ensure adequate pain relief
176
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.
177
pathogen in Whooping cough
Bordetella pertussis
178
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)
179
Investigation for Whooping cough?
nasopharyngeal aspirate/swab for PCR
180
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.
181
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.
182
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
```
183
Treatment for scabies
permethrin 5% cream
184
Most common congenital heart defect
Ventricular septal defect
185
Most common type of atrial septal defect
Ostium secondum
186
Patent ductus arteriosus
Patent vessel between descending aorta and left pulmonary artery
187
VSD murmur
Early systolic to holo systolic murmur best heard at LLSB
188
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
189
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
```
190
Fallot tetralogy
VSD
Pulmonary stenosis
Overriding aorta
RV hypertrophy
191
When do you see a "snowman" heart
Total anomalous pulmonary venous return
192
When do you see an egg shaped heart
Transposition of great arteries
193
When do you see a boot shaped heart
Tetralology of fallot, tricuspid atresia
194
Ebsteins anomaly
Septal and posterior leaflets of the tricuspid valve are displaced towards the apex of the right ventricle
195
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
196
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.
197
most common worm infection
Enterobius vermicularis (threadworm, pinworm)
198
threadworm treatment?
mebendazole
199
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
200
risk of recurrence of febrile convulsions?
30%
201
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
202
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
203
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
204
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
205
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
206
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
207
Medications that cross into breast milk?
```
antimetabolites
• bromocriptine
• chloramphenicol
• high dose diazepam • ergots
• gold
• metronidazole
• tetracycline
• lithium
• cyclophosphamide
```
208
Normal birth weight?
3.25kg
209
Average weight gain per day after birth
20-30g
| twice birth weight by 4-5 months
(3x birth weight by 1 year)
210
Average height when born?
50cm
211
Average head circumference when born?
35cm
212
Fluid Requirements for 0-12 months
150ml/kg/day (for example, a child weighing 7kg should have approximately 1050ml/day)
213
Fluid Requirements for 1-3 years
120ml/kg/day(for example, a child weighing 10kg should have approximately 1200ml/day)
214
Fluid Requirements for over 3 years
1000-1500ml minimum/day (may require more).
215
how many wet nappies should infants have
6-8 per day
216
how many wet nappies should older children have?
4-5 day
217
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.
```
218
Percentiles on growth charts?
3,10,25,50,75,90,97
219
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
220
4 questions to ask when evaluating short stature?
was there IUGR?
Is the growth proportionate?
Is the growth velocity normal?
is bone age delayed?
221
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
222
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
223
Function of LH in puberty?
stimulates release of female and male sex hormones from the ovaries and testes
224
Function of FSH in puberty?
stimulates the ovaries and testes to produce egg and sperm
225
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
226
Most common cause of delayed puberty?
constitutional delay
227
define precocious puberty
development of secondary sex characteristics 2-2.5SD before population mean
<9 years for males
228
Eitiology of precocious puberty?
usually idiopathic in females (90%), more suggestive of pathology in males (50%)
229
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
230
Language red flags
Does not babble by 7 months
does not join words by 2 years
does not speak in sentences by 3 years
231
WHO definition of adolescence
10-19 years old
232
3 domains of adolescent development
Physical
Cognitive
Psychosocial
233
leading cause of morbidity and mortality in adolescence
accidents and injuries, mental health problems and behavioural problems such as substance abuse
234
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
235
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
236
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
237
How to insert an OPA in a child less than 8 years
Insert under direct vision, concave side down, using a tongue depressor.
238
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.
239
calculating endotracheal tube size
Age/4 + 4 mm internal diameter (ID)
240
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
241
Henoch Schonlein purpura triad
purpuric rash on the extensor surfaces of limbs (mainly lower) and buttocks,
joint pain/swelling and
abdominal pain.
242
comments age group for Henoch Schonlein purpura
2-8 years
243
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.
244
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
```
245
antibiotics in meningococcal
ceftriaxone 50mg/kg
246
Chemoprophylaxis for meningococcal
Rifampicin
247
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.
248
Petechiae or purpura are non blanching. True or false?
True
249
Scissor walking
where the knees come in and cross
250
cerebral palsy
persistent but not unchanging disorder or movement and posture due to a defect or lesion of the developing brain
251
brain part damaged in spastic cerebral palsy
motor cortex or corticospinal tracts
252
brain part damaged in dyskinetic CP
basal ganglia
253
brain part damaged in ataxic CP
cerebellum
254
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
255
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.
256
bruxism
(persistent grinding of the teeth) is considered a stereotyped movement disorder or rhythmic disorder.
257
night terrors
very dramatic awakenings that happen during the night in the first few hours of sleep
258
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.
259
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.
260
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%)
```
261
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
```
262
features of Haemolytic Uremic syndrome
microangiopathic haemolytic anaemia
thrombocytopenia
acute renal insufficiency
263
causes of acute nephritis
```
postinfectious glomerulonephritis
Henoch Schonlein purpura
IgA nephropathy
Lupus erythematosus
Membranoproliferative glomerulonephritis
vasculitis
```
264
Benign focal epilepsy: where do seizures arise from
Rolandic or sylvan cortex
265
Most children grow out of benign focal epilepsy. Tru or false
True
266
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.
267
Type 1 Distal RTA
impairment in hydrogen ion secretion in the distal tubule
268
most likely electrolyte abnormality in pyloric stenosis?
Hypocholaeremic Hypokalemic Metabolic Alkalosis
269
Risk factors for pyloric stenosis
male
firstborn
caucasian
parental history of HPS
270
Type 2 renal tubular acidosis
impaired HCO3 resorption
271
Type 4 renal tubular acidosis
Decrease in aldosterone secretion or activity
272
Battle's sign
bruising behind the ear following basilar skull fracture
273
Wilms tumour
nephroblastoma
274
Wilms tumour associations
WAGR (rare genetic syndrome in which affected children are predisposed to develop Wilms tumour, Aniridia, Genitourinary abnormalities and Retardation) 11p13 deletion
275
Phaeochromocytoma
catecholamine secreting tumour from chromaffin cells
276
Genetics of phaeochromocytoma
autosomal dominant; associated with neurofibromatosis, MEN 2A and MEN 2B, tuberous sclerosis
277
Clinical Presentation of phaeochromocytoma
episodic severe hypertension, palpitations and diaphoresis, headache, abdominal pain, dizziness, pallor, vomiting, sweating, encephalopathy
Retinal examination: papilloedema, haemorrhages, exudate
278
most common type of brain tumours?
Infratentorial
279
most common infratentorial brain tumour
juvenile pilocytic astrocytoma
280
classic site of a juvenile pilocytic astrocytoma?
cerebellum
281
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.
282
Waht is important to consider in a child with bow legs?
rickets
283
What do you measure in a child with bow legs?
ICS - intercondylar separation: distance between medial femoral condyles
284
When do you refer a child with bow legs
when at 4 years of age the ICS > 6cm
285
when are children usually knock kneed
from 2-8 years
286
what to monitor with knock knees
monitor IMS - intermalleolar separation: distance between medial malleoli
287
Diagnosis of oligohydramnios
MVP
288
Corrigans syndrome
Congenital aortic regurgitation
289
When to refer with knock knees
IMS > 8cm
290
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
291
Aphalia
born without a penis, in a patient with otherwise typical male anatomy
292
What HLA types are commonly associated with type 1 diabetes?
HLA/ DR3, HLA/ DR4 (located on chromosome 6))
293
Kussmual respirations
rapid, shallow breaths that often occur in DKA, respiratory response to compensate for metabolic acidosis
294
most common type of congenital diaphragmatic hernia?
Bochdalek Hernia
295
Morgagni Hernia
characterised by herniation through the foramina of Morgagni which are located immediately adjacent and posterior to the xiphoid process of the sternum
296
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
297
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.
298
common causes of liver disease in the neonate?
bacterial sepsis
| congenital infection
299
congenital biliary atresia
the common bile duct between he liver and the small intestine is either blocked or absent
300
Allagile Syndrome
rare autosomal dominant condition also presenting with prolonged jaundice
301
Allagile Syndrome features
triangular facies, butterfly vertebrae on spinal Xray , posterior embryotoxon on eye examination and pulmonary valve stenosis.
302
What Gi atresia has a strong association with Down Syndrome?
Duodenal atresia
303
Which inflammatory bowel disease involves only the lining of the intestine?
UC
304
Hydrocele
collection of fluid within the processes vaginalis (PV) that produces swelling in the inguinal region or scrotum
305
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.
306
causes of a reactive hydrocele
Trauma
Torsion
Infection (eg, epididymo-orchitis)
Abdominal or retroperitoneal operations that impair lymphatic drainage
307
most common inguinal hernia in children?
Indirect hernia
308
What is Noonan syndrome?
relatively common autosomal dominant congenital disorder that affects both males and females
309
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
310
pathophysiology of Noonan syndrome
is a RASopathy and caused by a disruption in the RAS-MAPK pathway signalling
311
main heart abnormality in Turner Syndrome?
coarctation of aorta or aortic stenosis
312
what is the commonest congenital cyanotic heart disease
tetralology of fallot
313
Noonans syndrome is associated with what valvular disease?
Pulmonary stenosis
314
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.
315
fixed splitting of te second heart sound is a feature of what
arial septal defect
316
What is Hess's test?
test of platelet adhesion and aggregation
317
name 5 causes for neck stiffness in a child
1. Meningitis
2. Meningeal luekaemia
3. Tonsillits
4. Subarachnoid haemorrhage
5. Metoclompramide adverse effect
318
Why do you not give a baby aspirin?
Risk of Reye's syndrome
319
What is the surgery called for undescended testicles?
orchioplexy
320
Where is a cystic hygroma commonly found?
left posterior triangle of the neck and armpits.
321
what percent of Marfan syndrome is a result of spontaneous mutations?
25%
322
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
```
323
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%.
324
tetralology of fallot causes hypertophy of the?
Right ventricle
325
Left ventricular hypertrophy occurs with which congenital heart diseases?
a moderate sized ventricular septal defect
patent ductus arteriosus, and
coarctation.
326
What is the most common cardiology complication of Down Syndrome?
endocardial cushion defect.
327
Rate of spontaneous closure in VSD
>50%
328
congenital rubella cardiology manifestations
Patent ductus arteriosus, pulmonary stenotic lesions and atrial septal defect.
329
CATCH 22 Syndromes
chromosome 22 micro deletion syndromes are the velocardial-facial syndrome
Cardiac, Abnormal Facies, Thymic Hypoplasia, Cleft Palate, Hypocalcemia
330
Test for phagocytic cell defects
neutrophil respiratory burst; best way is rhodamine dye
331
Test for agammaglobulinaemia
enumerate blood B cells - flow cytometry using dye conjugated monoclonal antibodies to B cell specific CD antigens (CD19, CD20
332
DiGeorge Syndrome
dysmorphogenisis of the 3rd and 4th pharyngeal pouches; micro deletion 22q11.2
333
worldwide what is the most common cause of adrenal insufficiency?
Tuberculosis
334
Treatment of adrenal crisis
Intravenous Fluids
Steroid Replacement
Treat Hypoglyaemia
Treat Hyperkalemia
335
What is Sandifer's posturing? and what is it associated with?
Arching of the back
| Reflux in infants
336
What is used to treat apnoea of prematurity
caffeine citrate
337
Tertiary Syphilis infection
cardiac or ophthalmic manifestations, auditory abnormalities, or gummatous lesions
338
Investigations for syphilis
Darkfield examinations and direct fluorescent antibody (DFA) tests of lesion exudate
339
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
340
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.
341
most common primary hepatic malignancy in childhood?
Hepatoblastoma
342
Where do HCC metastases usually occur?
lung and lymph nodes
343
Name the 2 malignant liver tumours in children?
Hepatoblastoma
| Hepatocellular carcinoma
344
most common benign liver tumour in children?
haemangioma
345
what tumour is the OCP associated with
hepatic adenoma
346
Absence epilepsy EEG
3 per second spike wave activity
347
infantile spasms EEG
hypsarrhythmia
348
Treatment for infantile spasms
ACTH, vigabatrin, benzodiazepines, prednisolone
349
Physical signs of starvation
```
Emanciated facies and body
Fine body hair growth
Dry hair
Cold hands
Slow pulse
Low BP
```
350
Physical signs of bulimia
Dramatic weight fluctuations
Swollen salivary glands
Abraded knuckles
Dental carries
351
Schwachman diamond syndrome
Pancreatic insufficiency
Neutropenia
Malabsorption
352
Intestinal lymphangiectasia
Lymph fluid leaks into bowel lumen
Steatorrhoea
Protein losing enteropathy
353
Disccaridase deficiency
Osmotic diarrhoea
| Acidic stools
354
Abetalipoproteinaemia
Severe fat malabsorption
Acanthodians
Very low to absent plasma cholesterol, triglycerides
355
Pendred syndrome
Genetic disorder leading to congenital bilateral sensorineural hearing loss and goitre with occasional hypothyroidism
356
Diagnostic sign for necrotising enterocolitis on X-ray
Pneumatosis intestinalis
357
Complications of phototherapy
Loose stools
Erythematous macular rash
Overheating, leading to dehydration
Bronze baby syndrome - occurs with direct hyperbilirubinaemia
358
Clinical features of conjugated hyperbilirubinaemia
Pale stools
Dark urine
Conjugated is not lipid soluble
359
Causes of conjugated hyperbilirubinaemia
Biliary atresia
Choledochal cyst
Neonatal hepatitis
Galactossaemia
360
Features of bilirubin encephalopathy
```
Hypertonia
Arching
Retrocollis
Opisthotonus
Fever
High pitched cry
Seizures
```
361
Kernicterus
```
Sensorineural deafness
Athetoid cerebral palsy
Paralysis of upward gaze
Intellectual function less affected
Damage on MRI mainly in globus pallidus
```
362
Most likely cause of early jaundice
Haemolysis
363
What does the newborn screening heel prick test for?
```
Cystic fibrosis
pKU
Galactossemia
Primary congenital hypothyroidism
Rare metabolic conditions
```
364
Signs of primary congenital hypothyroidism
```
Prolonged jaundice
Umbilical hernia
Constipation
Macroglossia
Feeding problems
Hypotonia
```
365
Choice of imaging in SCFE
X-ray - frog leg lateral view
366
Risk factors for developmental dysphasia of the hip
Female
Family history
Breech presentation
Oligohydramnios
367
Treatment for DDH
Pavlik harness : under 6 months
Closed reduction
Open reduction: much older patient if closed reduction not possible
368
Investigation of choice for DDH
Ultrasound
369
Perthes disease
Self limited AVN of femoral head
370
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
371
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
372
How does the leg appear in SCFE
Externally rotated and shortened
373
Conditions that may predispose a child to SCFE
Hypothyroidism
Hypopituitarism
hyperparathyroidism
374
Treatment for SCFE
Surgical pinning
375
Potential complications of SCFE
```
A vascular necrosis of femoral head
Chondrolysis
Deformity
Long term degenerative osteoarthritis
Limb length discrepancy
```
376
Salter Harris fracture
A fracture that involves the epiphyseal plate or growth plate of a bone
377
Type 1 salter Harris fracture
Transverse Fracture through the growth plate (physis)
378
Type 2 salter Harris fracture
A fracture through the growth plate and the metaphysis sparing the epiphysis
379
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
380
Type 4 salter Harris fracture
Vertical fracture through the growth plate, metaphysis and epiphysis
381
Type 5 salter Harris fracture
Compression fracture of the growth plate
382
Complications of physeal injuries
```
Avascular necrosis
Direct crushing
The formation of a bony bar
Non Union
Hyperaemia
```
383
Fragile x syndrome
Inherited cause of intellectual disability
384
Physical features of fragile x syndrome
Long face
Protruding ears
Large testes
Tall stature
385
Syndrome associated with tall stature and large head
Sotos syndrome
386
Syndrome associated with short stature with webbed neck, widely spaced nipples, micrognathia and heart disease
Turner or Noonan syndrome
387
Where are osteosarcoma found?
Metaphyses of long bones
| most commonly seen around the knee and in the proximal humerus
388
Who gets osteosarcoma?
often occur in young adults
| also seen in the elderly in association with Paget's disease
389
Xray appearance of osteosarcoma
Periosteal elevation (Codman's triangle) and a 'sunburst' appearance due to soft tissue involvement
390
5 year survival rate of osteosarcoma?
50%
391
Features of an insignificant heart murmur in a child?
Systolic
soft and short duration
usually located along the left sternal border
392
Complications of mumps
viral meningitis, encephalitis, orchitis, oophoritis, pancreatitis, thyroiditis, deafness
393
4Ds of epiglottitis
Drooling
Dysphagia
Dysphonia
Distress
394
What not to do in epiglottitis
Never lie the child down
Never examine the throat with a spatula
never take a lateral neck xray
395
Treatment for epiglottitis
Humidified oxygen by face mask
intubation
antibiotics - ceftriaxone
prevented with Hib Vaccine
396
Wilm's Tumour Associations
```
Hemihypertrophy
aniridia
WAGR
Beckwith-Wiedemann Syndrome
Denys-Drash Syndrome
```
397
Denys Drash Syndrome
Gonadal dysgenesis and nephropathy leading to renal failure
| Associated with Wilm's tumour
398
Beckwith-Wiedemann Syndrome
Enlargement of body organs, hemihypertrophy, macroglossia
399
Differentials for an abdominal mass in children
Faeces
Neuroblastoma
Nephroblastoms
400
Most common congenital cause of non communicating hydrocephalus
Slyvian aqueduct stenosis
401
congenital causes of non communicating hydrocephalus
Slyvian aqueduct stenosis
Dandy-Walker Malformation (obstruction at 4th ventricle)
Arnold Chiari Malformation
Supresellar arachnoid cysts
402
Most common location of brain tumours in children
posterior fossa
403
Kernicterus
unconjugated bilirubin in the basal ganglia and brainstem causing neurological symptoms - seizures, hypotonia, opisthotonus, sensorineural hearing loss, paralysis of upward gaze
404
Treatment for hyperbilirubinaemia
Phototherapy
| - ionises the unconjugated bilirubin so it can be excreted
405
Complications of phototherapy
Loose stools
eryhtmeatous maccular rash
over heating leading to dehydration
bronze baby syndrome
406
Which side do most Bochdalek hernias occur on?
Left
407
name the 3 layers of the omphalocele sac?
Peritoneum
Amnion
Wharton's jelly
408
What syndrome is omphalocele associated with
Beckwidth-Wiedemann Syndrome (overgrowth disorder)
- hemihypertrophy, hyperinsulinism, risk of Wilms' tumour
Also associated with Edwards and Patau syndrome
409
WHat congenital condition is umbilical hernia associated with?
Congenital Hypothyroidism
410
What condition causes bile stained vomit (green vomit)
malrotation with volvulus
411
procedure to repair malrotation with volvulus
Ladds procedure with laparotomy
412
Gold standard Imaging for malrotation with volvulus
Upper GI contrast study
413
2 reasons for not passing meconium
meconium ileus
| Hirschprung's disease
414
meconium ileus
obstruction of the terminal ileum by abnormally tenacious meconium
415
Xray findings in necrotising enterocolitis
pneumatosis intestinalis
416
How do you prevent NEC
antenatal corticosteroids
417
Symptoms of pellagra
dermatitis, dementia, diarrhoea
418
What is pellagra
means "rough skin"
| deficiency of niacin
419
Xray findings in viral pneumonia
could be clear, could show peribronchial exudates
420
cause of bronchopneumonia in kids
viral
421
Definitive Test in congenital adrenal hyperplasia
17 hydroxyprogesterone (after 48 hours)
422
Treatment for CAH
Life long hydrocortisone and fludrocortisone (aldosterone)
423
Early onset neonatal sepsis
Sepsis within the first 48 hours, over 80% are due to Group B streptococcus
424
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
425
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
426
Treatment for early onset sepsis
benzylpenicillin + gentamicin
427
Maculopapular rash on palms and soles, snuffles, periostitis
Syphilis
428
Hydrocephalus, intracranial calcifications and chorioretinitis
Toxoplasmosis
429
Cataracts, deafness, and heart defects, extramedullary haematopoesis
Rubella
430
Microcephaly, periventricular calcifications deafness, thrombocytopenia, petechiae
CMV
431
Limb hypoplasia, cutaneous scars, cataracts, chrioretinitis, cortical atrophy
Congenital varicella
432
Bilateral purulent conjuctivitis in the first few days of life
Gonococcal conjuctivitis
| TReat with IV ceftriaxone and frequent eye irrigation
433
Endocrine disorder more likely in Down Syndrome
Hypothyroidism
434
MSK Disorder more likely in Down Syndrome
Atlanto-axial instability
435
most common neural tube defect
meningomyelocele: a sac like structure protruding through a defect in the vertebral arches
436
mandibular hypoplasia, glossoptosis, cleft soft palate
Pierre Robin Sequence
| * can be associated with Foetal Alcohol syndrome or Edwards
437
Broad, square face, short stature, self injurious behaviour. Deletion on chromosome 17
Smith Magenis
438
Hypotonia, Hypogonadism, hyperphagia, skin pciking, aggression, deletion on paternal chromosome 15
Prader Willi
439
Seizures, strabismus, sociable with episodic laughter. Deletion on maternal chromosome 15
Angleman Syndrome
440
Elfin appearance, friendly, increased empathy and verbal reasoning ability, deletion on chromosome 7
Williams Syndrome
441
IUGR, hypertonia, distinctive facies, limb malformation, self injurious behaviour, hyperactive
Cornelia De Lange
442
Microcephaly, smooth philtrum, thin upper lip, ADHD like behaviour, most common cause of mental retardation
Foetal Alcohol Syndrome
443
Most common type of mental retardation in boys. CGG repeats. Macrocephaly, large ears, macro-orchidisim
Fragile X Syndrome
444
Autosomal dominant or associated with advanced paternal age. Short palpebral fissures, white forelock and deafness
Waardenburg syndrome
445
Main features of Von Hippel Lindau Syndrome
Spinal or cerebellar Haemangioblastoma
Renal Cell carcinoma
Phaeochromocytoma
446
Main features of Sturge Weber Syndrome
Port Wine Stain + Glaucoma + seizures + mental retardation
447
sickle cell disease eitiology
glutamine is replaced by valine on the beta globin chain
448
what is dactilytis a common presenting symptom of?
Sickle cell disease
449
what do you see in blood smear in haemolytic uremic sydnrome?
Schistocytes
450
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
451
Genetic translocation associated with Burkitt Lymphoma
translocation of the c-myc oncogene
452
what is the fastest growing malignant tumour?
Burkitt Lymphoma
453
Poor prognostic factors in ALL
WCC >50,000
Age 10
chromosomal translocation
CNS involvement
454
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
455
cisplatin toxicity
acoustic nerve damage + renal failure
456
Bleomycin toxicity
Pulmonary fibroiss
457
Doxorubicin toxicity
Cardiotoxic
458
Vincristine toxicity
peripheral neuropathies
459
Pathogens in chronic suppurative otitis media
Pseudomonas aeruginosa and Staphylococcal Aureus
460
What are the live vaccinations?
```
Varicella
MMR
Rotavirus
Oral typhoid
Yellow Fever
```
461
Measles complications
```
Otitis Media
corneal ulceration
pneumonia
febrile convulsions
encephalitis
Sub acute sclerosing panencephalitis
```
462
Chicken pox complications
secondary bacterial infection
pneumoniae
encephalitis
463
Virus causing measles
RNA paramyxovirus
464
Systemic JIA Symptoms
HIgh fever, arthritis, salmon pink rash
465
ECG finding in Wolff Parkinson White
Delta wave (slurred upstroke)
466
what drugs are contraindicated in WPW with AF
Av nodal blockers (adenosine, Bblockers, calcium channel blockers, digoxin, lignocaine)
467
Definitive treatment for WPW
Radiofrequency ablation
468
venous hum
continuous murmur ins supraclavicualr region, reduces on lying down or with pressure on neck
469
Still's murmur
low pitched vibratory systolic murmur, increases with lying down
470
Where is a PDA murmur best heard?
just below the left clavicle
471
what is endocardial cushion defect associated with
Atrioventicular septal defect
472
Holt Oram Syndrome
```
Autosomal dominant
Bone defects (hands and arm) and heart defect
ASD and first degree heart block
```
473
heart defect in William's syndrome
Aortic stenosis
474
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
475
treatment for minor bleeds in Haemophilia A
Desmopressin
476
Treatment for major bleeds in haemophilia A
Factor VIII concentrate
477
chance of replapse in kids with nephrotic syndrome (minimal change disease)
80%
478
Triad of Haemolytic uremic syndrome
Microangiopathic haemolytic anaemia
Thrombocytopenia
Acute renal insufficiency
479
Ehler-Danlos Syndrome
Inherited connective tissue disorder
| joint hypermobility, fragile skin and easy bruising
480
Gold standard test for pyelonephritis
DMSA (static renogram showing state of parenchyma)
481
SPA insertion point
Midline lower abdominal crease
482
what is the most common cause of severe obstructive uropathy in children?
posterior urethral valves
483
Absence seizures on EEG
3 second spike and wave pattern
484
management of absence epilepsy
valproic acid or ethosuximide
485
treatment for infantile spasms
ACTH
486
coup injury
acceleration injury where the damage to the brain is at the point of impact
487
Contra coup injury
Deceleration injuries and are located at the opposite site of the impact
488
How do you diagnose Guillain Barre
Lumbar puncture: increase in CSF protein
489
what cancers occur in von Hippel Lindau Disease
Retinal and CNS haemangioblastoma and Renal cell carcinoma
490
what stage sleep do night terrors occur in
Non Rem sleep stage 4
491
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
492
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
493
What is TOurette's also associated with
OCD and ADHD
494
what mutation is associated with Duchenne muscular dystrophy
Xp21 mutations
495
What investigations would you do in Duchenne muscular dystrophy
CK levels
EMG
Genetic testing: Xp21 mutation
Muscle Biopsy: abscence of dystrophin
496
name the 3 types of CP
Spastic
Dyskinetic
Ataxic
497
what are the 4 domains of development
Gross motor
Fine motor and vision
Hearing, speech and language
Social emotional and behavioural
498
what drug is used for meningococcal prophylaxis
Rifampicin
499
what are the minor Jones criteria for rheumatic fever
```
arthraligia
prolonged PR
raised ESR/ CRP
Previous Hx of RF or RHD
Fever
```
500
Gold standard test for diagnosis of biliary atresia
INtraoperative cholangiogram
501
Genu Varum
Bow legs
502
Poor prognostic factors in ALL
```
Age 10
WCC >50
CNS involvement
Malignant cells with hypoploidy
Chromosomal translocation abnormalities
```
503
commonest glomerular causes of microscopic haematuria
IgA nephropathy
Alport Syndrome
Thin basement membrane disease
504
Blount's disease
Severe bow legedness
caused by obesity
they squash their gorwth plate
505
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
506
What are the Xray features of rickets
widening of the epiphyseal plate, cupping, splaying and fraying of metaphysis
507
Treatment for mycoplasma pneumonia
erythromycin
508
what does organic phosphate poisoning inhibit
acetylcholinesterase
| Leads to accumulation of ACh in the body
509
Organophosphate poisoning symptoms
SLUDGEM
| salivation, lacrimation, urination, defecation, GI motility, Emesis, miosis
510
Treatment for organophosphate poisoning
Atropine to treat muscarininc effects
| Oxime therapy: reactives acetylcholineterase
511
Treatment for salicylate overdose
Treat with activated charcoal
512
Thiamine deficiency
BeriBeri
| Neuritis, oedema,, cardiac failure
513
what do Howell Jolly Bodies indicate
Hyposplenism
514
How to you treat nephrogenic diabetes inspidus
Thiazide diuretics
515
Spironolactone
Aldosterone antogneist
| potassum sparing diuretic
516
atropine
muscarinic antagonist
517
congenital heart causes of neonatal collapse
- severe aortic coarctation
- aortic arch interruption
- Hypoplastic Left Heart Syndrome
- Critical Aortic Stenosis
518
what is aortic coarctation and what level does it mostly occur
Narrowing of the aorta, level of ductus arteriosus
519
what is coarctation of the aorta commonly associated with
bicuspid aortic valve and Turners syndrome
520
Causes of a systolic murmur in a child
- physiological murmur: Stills murmur, venous hum
- Aortic stenosis
- pulmonary stenosis
- ASD
- Coarctation
- VSD
521
ventolin deposition in lung
40%
522
What variable are lung function values based on
height
523
What happens in tumour lysis syndrome
cells lyse releasing K+, uric acid, phosphate
524
What does T cell leukaemia often presnet with
mediastinal lump
525
Prevalence of conduct disorder
3%
526
HSV in neonate
```
Skin Eye and Mouth Disease
Chorioretinitis
Conjunctivitis
Vesicular lesions on mouth and skin
treat with acyclovir
```
527
Causes for racoon eyes
Basilar Skull fracture, Neuroblastoma
528
Hutchinson Triad
8th cranial nerve deafness, interstitial keratitis, Hutchinson Incisors
529
Topical antibiotics for impetigo
Bactroban
530
kartagener syndrome
primary ciliary dyskinesia + Situs Invertus
531
Fat soluble vitamins
ADEK
532
Procedure for malrotation with volvulus
Ladd procedure
533
usher Syndrome
Hearing loss + Retinitis pigmentosa
534
Hearing test in newborns
Oto acoustic emissions
535
hearing loss + kidney problems
Alport Syndrome
536
Neonatal meningitis pathogens
- S. agalactiae (group B strep)
- E Coli
- Listeria Monocytogenes
537
Causes of Lobar Pneumonia
Strep pneumonia
Haemophilus influenza
Staph Aureus
538
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
539
Orbital cellulitis
- Surgical emergency
- proptosis
- limited eye movements
- horizontal eye movements affected
- decreased visual acuity
- pain on occular movement
540
cause of excessive eye watering in infant
Nasolacrimal duct obstruction
541
treatment for infantile haemangioma
beta blocker
542
Do congenital melanocytic naevi usually grow with the child?
Yes they proportionally grow with the child
543
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
544
What features about congenital melanocytic naevi increase the risk of melanoma
```
large size
crosses the spine
multiple congenital satellite naevi
neurocutaneous melanosis
early childhood
```
545
oxygen saturations in severe asthma
546
Oxygen saturations in mild asthma
>95%
547
FEV1 in severe perisistent asthma
548
FEV1 in moderate perisstent asthma
549
Canavan disease
- rare inherited disorder that damages the ability of nerve cells in the brain to send and receive messages
- leukodystrophy
550
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
551
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
552
Risk Factors for Cleft palate
Asian ancestry
Poor nutrition
family history
parental age (esp dad)
553
Treatment for cleft lip/ palate
Surgery to correct cleft lip at 3-6 months
| Surgery to corrent cleft palate at 6-12 months
554
complications of cleft lip/palate
problems with feeding
ear infections
speech trouble
pyshcological issues
555
Todd's Paralysis
focal part of weakness in a part of the body after a seizure
| usually subsides within 48 hours
556
TB meningitis
lymphocytosis, normal to increased protein, LOW GLUCOSE
557
Difference between TB and viral meningitis on CSF
TB has low glucose
558
Findings of TB meningitis on contrast CT
Enhancement of the basal cisterns
