Part 2 questions SAQ Flashcards
What are the causes of anaemia and jaundice
in neonates
first 24 hours, is sepsis until proven otherwise so do full septic screen and start antibiotics (benzlpenicillin and gent)
then in the beginning stages think about haemolysis or sepsis.
Causes of haemolysis: ABO incompatibility, Rhesus incompatibility (decreased incidence due to RoGAM or Rhesus immunoglobulin injection) also think G6DP deficiency
or think about hydrops fetalis.
After the first 24 hours Jaundice and anaemia
This could be physiological (breastfeeding jaundice/ breast milk jaundice)
hereditary spherocytosis
in certain at risk ethnic groups: sickle cell disease (afro/carribean)
Criggler Najjar
always do conjugated and unconjugated bilirubin high element of conjugated suggest biliary atresia
What are the test to look for hereditary spherocytosis
FBC looking for anaemia, reticulocyte count can be slightly elevates
peripheral smear microspherocytes, polychromasia
Coombs test: will be negative
osmotic fragility test (but can be falsely normal- if taken during aplastic crisis or recovery from asplastic crisis, or if taken in the neonatal period.
flow cytometry: eosin-5-maleimide binding.
What is the treatment for hereditary sphereocytosis?
general measures: folic acid supplementation for life
penicillin prophylaxis (if post splenectomy)
vaccination prior to splenectomy (pneumococcal 13 or 25 varient depending on age (less than or greater than 5)
meningococcal vaccination HIB
supportive therapy: Red blood cell transfusions as needed
splenectomy if requiring transfusion or impaired growth
may need cholecystectomy if symptomatic gallbladder disease (due to pigmented stones)
Post surgical bleed pethciea and APTT raised factor 8
von willebrands disease
Von willebrand disease
This is an inverted bleeding disorder caused by a deficiency (quantitative or qualitative deficiency ) in von willebrands protein
What is von willebrand factor?
It is a large multimeric protein that allows platelets to adhere to sites of endothelial injury initiating the primary step in the homeostasis formation of the platelet plug.
Which factor is reduced in von willebrands disease
it is the VIII (8th) factor because the factor it is a carrier protein.
What are the different types of von willebrands disease and which are the most common?
Type 1: mild to moderate quantitative deficiency (you have working protein but there is just not enough of it) this is the most common. mild bleeding disorder
Type 2: qualitative deficiency, which can be broken down into different subtypes: more severe deficiency
Type 3: near complete quantitative deficiency and this is severe
what is the differential diagnosis of von willebrands?
primary hemostatic disorders: platelet function abnormalities
congenital thrombocyopenia
mild inherited coagulation factor deficiencies
Hemophillia A
secondary bleeding disorders:
liver disease, uraemia
connective tissue disorders: Ehlers danlos and scurvy
What other disorders can prolong the APTT but not cause bleeding
factor XII deficiency
what is the treatment of von willebrands disease
desomopressin it stimulates the release of von willebrand factor from the endothelial cells. However it’s use is limited to type 1 as it only helps in a quantitative reduction in von willebrand and some of the type 2 (contraindicated in type B)
factor concentrates humate P.
recombinant von willebrand factor (only in severe disease)
transexamic acid
what are three non infectious causes of petechiae
acute lymphoblastic leukaemia
idiopathic thrombocytopenia purpura
henoch schonlein purpura
what is Diabetic ketoacidosis
An emergency presentation commonly in type 1 diabetics. Defined as:
1. Acidemia PH less than 7.3
2. Hyperglycemia: greater than 11, glycosuria
3. ketonuria/ ketosis (greater than 3)
4. bicarbonate less than 18
What are the calculations for a child with fluids in a child with DKA
The following of the fluid calculations are important as they can lead to cerebral oedema if not managed correctly
what are the goals of DKA management
correct and reverse the ketosis
correct dehydration
restore glucose to normla
monitor for complications of DKA and it treatment
identify and create any precipitating event
What are the steps in fluid resuscitation
if the child is volume deplete but not shocked give one fluid bolus (10ml/kg) with NACL 0.9%
How do you calculate the percentage dehydration?
mild: just clinically detectable
moderate: 5% dry mucus membranes and reduced skin turgor
severe: (10%) sunken eyes and poor cap refill
shock: tachycardia
What are the criteria for ICU admission in DKA
PH less than 7.1
hyperventilation, shock, low GCS, persistent vomiting, inability to sustain own airway, age less than 2
how do you calculate the maintenance
requirements= maintenance plus deficit
deficit is calculated by multiplying (wt in Kg) by (% either 0.03,.05,.08) the MAX you can multiply is 0.08! even if you calculate the child at 10% deficit
there is a chart to calculate ml/kg/24 hour depending on the weight
so first you need to calculate the maintenance which is weight multiplied by the (chart number)
Then you want to multiply that by 2 to get what you need over the next 2 days
then you want to multiply the weight but percent deficit as a decimal multiply by 1000.
then add those two number and subtract the fluid bolus given (10 times weight)
then put that total over 48. This will get your rate for the next two days.
What type of fluids would you use in DKA
first normal saline
then once the patient is passing urine or the gas shows not hyperkalemia and ECG t waves normal add 20mmol KCL into the bag. (you are monitoring this every 2 hours)
When do you need to start adding glucose to the bag
you are going to check the the glucose every hour, you want a decrease of 4-5 mol per hour
if it is more than this rate, add dextrose 5%
if the glucose is between 14-17
How to calculate insulin infusion rate for children over 5 kg
0.1 mL/kg/hr
continue until the PH is greater than 7.3
discontinue 30 minutes after the first subcutaneous injection is given.
what kind of monitoring does a child in DKA need
continuous ECG monitoring
half hourly: neuro obs
hourly: vital signs and blood glucose and ketones measurements
2 hourly: electrolytes and calculate the corrected NA/ VBG and lab glucose until academia is reduced.
review the fluid composition
twice daily weights
Should you immediately start insulin therapy?
no you must wait 1 hour after the fluid bolus is given! Not waiting has been shown to increase the risk of cerebral oedema.
what is a neuroblastoma
tumour arising from neural crest cells of the sympathetic nervous system.
normally presents in children less than 5 years old
midline hard tumour arising from the midline.
what are the investigations for a neuroblastoma
urine catecholamine metabolics (raised homovanillic acid and vanillylmandelic acid)
CT/MRI
tissue biopsy to confirm disgnosis, prognosis and therapy
how is a neuroblastoma determined to be benign or malignant (prognosis)
pathological or molecular features (histological characteristics, tumour priody, MYCN amplification, 1p, and 11q23 status
what is the treatment for a neuroblastoma
low risk: surgery plus or minus chemotherapy
high risk: multiple cycles of chemotherapy and autologous bone marrow transplant, cisretinoic acid, immunotherapy
What are the red flags for sitting independently
9 months
what are the red flags for not walking by
18 months
when should you definitely have 2 word sentences
2 year s
when should you have toilet training by
5 years
What is congenital adrenal hyperplasia
it is a series of autosomal recessive disorders that are classified by having a common deficiency in the biosynthesis of cortisol.
What is the common cause of congenital adrenal hyperplasia
21Ohase deficiency
what is non classic congenital adrenal hypertrophy
it is when there is a late onset presentation of virilasation
what is the most common presentation of congenital adrenal hyperplasia
most likely to be a salt wasting crisis
how does classic CAH present in females
androgen excess during the early prenatal life resulting in ambiguous genitalia
present with adrenal crisis
how does classic CAH present in males
progressive varilization and salt wasting crisis
what is strabismus
any form of ocular misalinement
amblyopia
is a decrease in best corrected visual acuity in an otherwise anatomically normal eye
refractive error
improper focusing of light by the eye which generally requires correction by eyeglasses or contact lenses
myopia
neaersightness
hyperopia
farsightedness
astigmatism
unequal curvature of the cornea causing the cornea to be more curved in one direction than the other.
What is Eisenmenger syndrome
If a large VSD is left untreated pulmonary vascular disease with eventually develop leading to reversal of the hunt, cyanosis and RV failure.
how do you calculate the anion gap
Anion gap= NA + K - CL -HCO3
Maternal Hep B
There are three core antigens
and also IgG and IgM (M for occurred in last few months).. G as in long gone (more than 6 months ago). HBsAG is highly contagious also will measure there viral load DNA as well)
what do you treat babies with exposure to Hep B mums
IVIG and Hep B vaccination
For babies with hep B exposure
they are followed in the in Rainbow clinic (infectious disease clinic) in 6 months
to asses whether or not immune they look at the surface antigen negativity and anti HBS positivity
How do you diagnose spinal muscular atrophy
This is progressive disorder of the motor neurones in the spinal cord and brain stem.
what is a differential diagnosis for SMA
prader willi syndrome, congenital myasthenia gravis
one of the treatments for SMA
nusinersen, PT and OT, spinal fusion surgery,
complications of SMA
respiratory failure,
scoliosis
limitations in mobility due to muscle wasting.
Which genetic syndrome is associated with brachycephaly
Apert syndrome
subacute combined degeneration of the cord definition
this is characterised by degeneration of the dorsal columns and the lateral columns of the spinal cord due to demyelination
What does subacute combined demyelination of the cord present with
sensory deficients, parasethesia, weakness, ataxia, and gait disturbance.
What are the causes of subacute combined demyelination of the cord
B12 deficiency (in children who are vegan or picky eaters)
malabsorption (Chron’s disease)
use of proton pump inhibitors
what is used for the newborn hearing screen
automated otoacoustic emissions test
What if the baby fails the first hearing test
the next test will either be a second automated otoacoustic emissions test or they will use a automated auditory brainstem response test
what is the treatment for sensory neural hearing loss
cochlear implant
what is the congenital infection associated with sensory neural hearing loss
cytomegalovirus
What if a child presents with sensory neural hearing loss and a goitre
this is a sign of pondered syndrome. This is the most common syndromal form of deafness. It is associated with developmental abrnomalities of the cochlea, sensorineural hearing loss and diffuse thyroid enlargement.
child presenting with fever weight loss and pleural effusion differentials
lymphoma, and parapneumonic effusion
Whats is viral myositis
can happen in the context of a viral infection like influenza, also check the urine if positive for myoglobinuria consider rhabomyolyis which requires hospitalisation for IV hydration therapy.
A 12 year old male presents with raised MBI new onset hip pain and shortened and external rotated femur
this fits with slipped upper femoral epiphysis
the confirmatory test is to do a plain film of the hips in AP and frog leg lateral view
What are the X-ray findings in slipped upper femoral epiphysis
Klein’s line (evaluation of asymmetry)
the S sign
blurring of the proximal femoral metaphysics (blanch sign of steel)
What are three predisposing factors of slipped upper femoral epiphysis
obesity, history of radiation to the femoral head region, and elevated leptin levels
What is the management of slipped upper femoral epiphysis
surgical correction ie: percutaneous in situ fixation
what are you thinking of an neonate with a pleural effusion on TPN
Traumatic chylothorax: injury to the thoracic duct (post cardiac surgery)
catheter related aetiologies: extravasation of the IV fluids into the thoracic cavity
venous hypertension from intravascular blood clots resulting in pleural effusions
hemothorax: hemorrhagic disease of the newborn, DIC, vascular malformations
sepsis
a neonate has elevated triglycerides in the analysis of his pleural effusion following his diagnosis of a pleural effusion what is the cause?
this is consistent with a chylothorax, this type of effusion is a exudative effusion.
What are the two types of effusions
transudative and exudative
What is the management of a chronic pleural effusion?
chest drain for slow continuous drainage of fluid using an underwater seal system
replacement of losses (with enteral and TPN)
possibility of octreotide (after careful discussion with parents about risks and benefits- specialist consultant input)
What are the X-ray findings in rickets
fraying, splaying and cupping of the metaphyseal ends
what are the causes of rickets
dietary: protracted exclusive breastfeeding without supplementation
Lack of sun exposure
prematurity
What are the two subcategories of rickets
calcipenic rickets and phosphopenic rickets
What are the lab findings of calcipenic rickets
PTH: markedly elevated
calcium low or normal
phosphate: low or normal
what are the lab findings in phosphopenic rickets
PTH: normal or modestly elevated
calcium: normal
phosphate: low
what are the causes of hypophospatemic rickets
hereditary hypophosphataemic rickets (vitamin D resistant rickets)
falconi syndrome
What are the goals of treatment in metabolic conditions
to suppress toxic metabolites
correct hypoglycaemia
correct the acidosis (bicarbonate administration)
correct the hyperammonia (suppress protein metabolism)
What are the labs going to look like in a urea cycle defect
PH is going to be alkaline
the anion gap, ketones, glucose, and lactate are going to be normal. The ammonia with be greatly elevated
What are the labs going to look like in adrenal insufficiency
electrolytes: hyponatriema and hyperkalemia and acidosis
hypercalcemia
hypoglycaemia
What are the criteria for neurofibromatosis
six or more cafe au last spots measuring at least 5mm in size before puberty and 15 mm in size after puberty
freckles in the axilla or groin
two or more neurofibromas or more plexiform neurofibroma
lisch nodules
optic glioma
tibial dysplasia or abnormality of the orbit
first degree relative with the same diagnosis
how many of the criteria need to be fulfilled to diagnose NF1
at least two features
what is the HEADSS assessment
Home
Education
Activites and Alcohol
Diet and Drugs
Self-esteem and sex
safety and suicide
intussusception definition
invagination or telescoping of a proximal portion of the bowel into the distal segment of the bowel, which can result in schema or obstruction
What is your first line treament when you suspect intussusception
keep nil by mouth, start Iv fluids and get an urgent surgical consult
if heamodynmically unstable then they are not for reduction by enema
