ILA neonate, premature and genetics + lecs Flashcards
What is the most likely cause of an infant born at 27 weeks gestation working hard to breathe and being dependent on oxygen to maintain his measured oxygen saturation in the normal range.
Respiratory distress syndrome due to lack of surfactant
What other causes should you consider for neonate respiratory distress?
Pneumonia - sepsis Pneumothorax Pulmonary oedema Congential heart defect Apnoea of premaurity Neonate hypoglycaemia
What is Apnoea of premaurity ?
The baby “forgets” to breathe, simply because the nervous system is immature. This is called central apnea. The baby tries to breathe, but the airway collapses. Air can’t flow in and out of the lungs. This is called obstructive apnea.
How would you manage neonate resp distress due to a) lack of surfacant b) pneumonia c) apnoea of prematurity ?
a) Artificial surfactant, oxygen and ventilate
b) Ventilate, oxygen and abx
c) ventilate, oxygen and Aminophylline/caffeine to stimulate NS
What abx do you give for neonate sepsis?
benzylpenicillin and gentamycin
At what levels of capillary blood glucose is a neonate hypo?
Neonate hypoglycaemia - blood sugar of less than 2.5
What causes neonate hypoglycaemia?
Neonatal hypoglycemia occurs when the neonate’s blood glucose level is less than the newborn’s body requirements for factors such as cellular energy and metabolism
may also be caused by premature/ baby having insuffient glycogen stores or if mother had GDM then hyperplasia of the islet cellsin the pancreas causes high
insulin levels.
How do you manage neonate hypo of a premature baby?
give bolus 10% dextrose if preterm
Would your management be different if this was a term infant - for neonate hypos?
feed breast/botle and glucoel for term (bolus if bad)
Ideally EBM or specialised preterm formula
Gradual build up, titrate with parenteral nutrition
Why would you not build up feeds too quickly in management of neonate hypo?
Risk of necrotising enterocolitis
How would you monitor the adequacy of any nutrition in a neonate?
Growth chart
bloods
A ventilated infant deteriorates suddenly and looks pale. His blood pressure is low. What may have happened?
Intubated neonates remember DOPE: displaced, obstructed, pneumothorax, euipment
Sepsis
Cardiac lesion
bleed
Name specific problems that may arise from damage sustained to premature babys eyes, hearing, lungs and brain.
Retinopathy of prematurity
CLD or BPD (broncopulmonary dysplasia) lungs
Intraventricular haemorrhage
Increased risk of hearing impairment
You are asked to see an infant who is twelve hours old, having been born to a couple from Saudi Arabia. He is their second child and there are concerns that he is jaundiced. Mother is well although she now has a temperature of 37.9°C. How would you assess the level of jaundice clinically?
First apparent in face, blanch to see underlying colour
Check for neuro signs eg change in tone or seizures – beware kernicerus
Hepatosplenomegaly, petechiae and microcephaly are associated with haemolytic anaemia, sepsis and congenital infections.
Pale stool and dark urine indicate raised conjugated bilirubin
Causes of nenonate jaundice by age?
<24 hrs need to rule out haemolysis and congenital infection
24 hrs to three weeks think haemolysis, infection, physiological, biliary atresia (conjugated)
>3 weeks think infection, phsyiological, hypothyroisism, liver (conjugated)
What investigations would you perform on a jaundiced child?
Bilirubin levels - SBR - plotted on chart DCT - direct coombs test FBC Infection screen Group and save LFTs TFTs
Do you need to treat a child who is jaundiced in the first 24 hours of their life?
Yes if actually jaundiced as in first 24 hrs life
Or if were over that and plotted high enough on chart
management of neonate jaundice?
Phototherapy - converts bilirubin to water soluble,
Treat cause
increase fluids
Exchange transfusion via an umbilical artery or vein (when more severe - shown by plotting on chart)
Can neonate jaundice be harmful?
Kernicterus - bilirubin in basal ganglia and brainstem
Is jaundice developed gradually after a few days of life and then persisted for more than two weeks is it likely a serious problem?
no
What clinical features in an infant with jaundice history would give you cause for concern?
Worried if FTT/ dark urine/ pale stool
what is the most important ix for jaundice in child?
Split bilirubin – most important – SPR test for conjugated bilirubin – if high concerned for liver problems
What diagnoses must be identified promptly in neonate jaundice?
Biliary atresia
What is biliary atresia and why is it concerning?
Extrahepatic obstruction to bile flow
Risk of liver cirrhosis if not treated
Diagnosis and mx of biliary atresia?
Diagnosis with radioisotope scan and liver biopsy
Treatment hepatoporto-enterostomy (Kasai procedure)
What is Crigler-Najjar syndrome?
Crigler-Najjar syndrome (an inherited condition that affects the enzyme responsible for processing bilirubin)
how common is jaundice in “healthy” infants?
60% babies get jaundice
A two week old male infant is brought to A&E crying inconsolably. On examination the right leg is not moving, and Mum says he cries when his nappy is changed. There is no history of trauma. In the family history, Mum (aged 21) had six fractures as a child; most occurred following trivial trauma. She also says that her father had ‘a lot’ of fractures, and that he has been diagnosed with ‘osteoporosis’ at age 48 years, and is getting shorter, What is the differential diagnosis?
Osteogenesis imperfecta/ other metabolic cause Vitamin D deficiency Non accidental injury Achondrogenesis DDH Birth injury
What clinical features will you look for on imaging and exam of infant with osteogenesis imperfecta (aka brittle bone disease)?
Fractures: The skull shows multiple Wormian bones and the vault may overhang the base, causing basilar compression needing surgical correction.
When teeth are affected, some may be more affected than others. There is discolouration with enamel fracturing easily from the dentine, causing rapid erosion in both sets.
Blue sclerae is an important sign caused by scleral thinness allowing the pigmented coat of the choroid to become visible.
Frequently there is early arcus unrelated to hypercholesterolaemia.
pain
impaired mobility- sarcopenia
ligamentous laxity
poor growth,
Cardiac effects are important; they include aortic incompetence, aortic root widening and mitral valve prolapse.
Often there is hypermobility of joints, with flat feet, hyper-extensible large joints and dislocations.
Hearing can be affected by changes in the middle ear.
What investigations should you carry out on osteogenesis imperfecta?
X-rays, bone densitometry and genetic testing
Opthamology – retinal haemorrhages
CT head for subdural
biopsy
What is the mode of inheritance for osteogenesis imperfecta?
Autosomal dominant
What mutations need to be involved in osteogenesis imperfecta?
About 90% of patients have mutations in type I collagen genes (COL1A1 and COL1A2)
What is osteoporesis and its diagnostic criteria?
low bone mass and loss of microarchitecture
OP includes a vertebral crush fracture in the absence of trauma or bone density of less than - 2 SD PLUS two or more long bone fractures by age 10/ three or more by age 19
What are causes of osteoporesis in children?
Causes: osteogenesis imperfecta, haematological problems, steroids, inflammation eg Duchenne’s
What are the silence classifications for OI? Which is most common?
Sillence classification: I –mild, II-lethal, III-progressive deformity, IV-moderate
Type 1 is most common
What is the mx for OI?
Mx: metal work in long bones, skull base surgery if severe, cochlear for hearing, dental health, PT, pain relief, bisphosphonates (eg pamidronate) to reduce fractures as it slows down growth destruction
What is rickets?
Caused by low 1,25 (OH)2 vitamin D
Where does vitamin D come from?
which we gain from sunlight and diet (eg yellow spreads, cereals, egg yolk, oily fish for D3 and yeasts and mushrooms for D2)
What are causes of vit D deficiency?
Can Be due to poor diet, malabsorption, low sunlight, kidney and liver disease
What does vitamin D do in the body?
Vitamin D increases calcium absorption in the gut and releases calcium with PTH
What are the sx of rickets?
Sx: parietal bones feel soft, rachitic rosary, weakness, bowed leds, low calcium caused convulsions, limb deformity, gross motor delay, swollen ankles, carpo-pedal spasm, metaphyseal swell, low tone, fractures, cardiomyopathy, resp distress, harrisons sulcus, hypotonia
What is rachitic rosary?
Rachitic rosary refers to expansion of the anterior rib ends at the costochondral junctions and so become palpable and is most frequently seen in rickets as nodularity at the costochondral junctions. - this expansion may also happen at wrists and ankles
