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
What ix would you do for suspected vit D deficiency?
25 OH vit D blood levels low, low PO4 on fasting, raised serum alkaline phosphate, PTH raised, serum calcium normal or low, XR (splayed or frayed metaphyses or bowed legs)
What is the mx for vit D deficiency?
calcium and vit D
DO NOT GIVE BISPHOSPHONATES
What the causes of jaundice in the first 24 hrs of life?
: haemolytic disorders (rhesus and ABO incompatibility, G6PD deficient, spherocytosis), infection, crigler-najjar sndrome, gilberts
What are the causes of jaundice between 1 day and 2 weeks old?
physiological, breast milk, infection, haemolysis, polycythaemia, crigler-najjar sndrome
Causes of jaundice in >2 weeks - split into conjugates vs non conjugated?
unconjugated: physiological/ breast milk, infection, hypothyroidism, haemolytic, pyloric stenosis
Conjugated: bile duct obstruction, neonate hepatitis, infection, CF, metabolic, hypothyroidism
What causes phsyiological jaundice?
Most newborn are jaundiced due to high RBC breakdown at birth, shorter RBC lifespan in infants, bilirubin metabolism less efficient
what is a particular concern with unconjugated jaundice ?
Unconjugated – can cross BBB due to being fat soluble -> kernicterus (an encephalopathy due to bilirubin deposition in basal ganglia.) -> CP.
Conjugated less worrying as water soluble.
explain the pathophysiology of haemolytic diseases of the newborn
In rhesus disease: mother has rhesus-negative blood and the baby has rhesus-positive blood
ABO incompatibility: mother’s blood type is O, and her baby’s blood type is A or B.
when blood mixes large amounts of maternal anti-D or A or B antibodies produced -> cross the placenta -> affix to fetal red blood cells -> recognised as ‘foreign’ by the fetal immune system and haemolysed by fetal macrophages and lymphocytes.
How may haemoytic disorder present apart from w/ jaundice?
anaemia, hydrops fetalis (abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. ), hepatosplenomegaly
what is Transient tachypnoea of newborn?
Most common cause of resp distress – delay of resportion of lung fluid – more common after c section ( dont have force of vagina to squeeze out of lungs). Exclude meconium aspiration
How may neonate sepsis present?
Fever Poor feed Vomit Resp distress Apnoea Jaundice Distension Neutropenia Shock Irritable Lethargy Meningitis: bulging fontanelle, head retraction
causes of hypoglycaemia in newborn?
Linked to IUGR or gestation DM – as have poor glycogen stores/ hyperpasia or islet cells due to high insulin levels
Prevent with early feeding
sx of hypoglycaemia
irritable, apnoea, lethargy, drowsy, seizures
What timeframe is a baby counted as premature?
<37 weeks
What are the features of a baby born at 23-27 weeks?
24 weeks average weight is 700/620g Thin skin Dark red colour Pinna soft no recoil No breast tissue Genitals – testes undescended prominent clitoris Need resp support, apnoea common Suckling not coordinated Need parenteral nutrition Faint cry eyelids may be fused Only response loud noise Limbs extended with jerky movements
How does a full term baby look?
Weight 3550/ 3400 g Thick skin Pale pink colour Pinna firm, recoil immediate Have breast nodules Testes descended and labia minora and clitoris covered Coordinated suckling Cry hungry Loud cry Eye contact and wakeful Flexed posture with smooth movements
How does hypoxic ischaemic encephalopathy present?
hypoxia and hypercapnia and metabolic acidosis. Reduced cardiac output means reduced tissue and brain perfusion. Caused by failure of gas exchange across placenta, cord compression eg from shoulder dystocia, cord prolapse, maternal hypo or hypertension, IUGR, anaemia, failure to breathe at birth
How is hypoxic ischaemic encephalopathy managed?
resp support, anticonvulsants, treat hypotension or electrolyte imbalance etc
how do soft tissue birth injuries present?
caput saccedaneum – bruising and oedema of presenting part, non dangerous
Cephalhaemtoma- bleeding below the periosteim- resolves
Chignon – from ventouse
What are the most common nerve palsies in neonates?
Brachial nerve palsy – C5 and C6 injury – erbs palsy
Facial nerve palsy- compression of forceps or mothers ischial spine – usually unilateral with facial weakness on crying – methylcelululose drops for eye if affected
How does respiratory distress syndrome present in a neonate?
Surfactant deficient so alveolar collapse and poor gas exchange – more common preterm esp before 28 weeks
Show signs of grunting, reession, nasal flare, tachypnoea, cyanosis
How is respiratory distress syndrome managed?
Glucocorticoids given if anticipated to stimulate surfactant
How does a pneumothorax present?
Overdistended alveoli track into interstitum causing intersitital emphysema(RDS) then are oxygenated and in 10% air leaks into plueral cavity -> pneumothorax
How is a pneumothorax managed?
See with transilluminagion / CXR
Treat with chest drain
How is the temperature controlled?
Lose more heat due to higher surface area ratio to mass, thin skin, little SC fat
Hypothermia leads to increased energy consumption
Use incubators
How does a patent DA neonate present?
Can have no sx or can cause apnoea/ bradycardia
Pulse bounding, systolic murmur
Heart failure
Close with prostaglandins synthetase inhibitor eg inbruprofen
How is feeding managed in a prem neonate?
Need more feed
Can’t suckle so feed with NGT
Supplement phosphate, calcium and vit D, probiotics and prebiotics
How does necrotizing enterocolitis present?
RF: bacteria and ischaemia
Signs: feed intolerance and vomit, may be bilous, distended, fresh blood stool, shock
XR abdomen - distended bowel due to gas, air in portal tract may perforate and this may be seen on XR or transillumination
How is necrotizing enterocolitis managed?
Mx: stop PO feed, broad spectrum abx, NGT, ventilate, surgery if perforate
How the different low birth weights classified?
1500g = very low BW, 1000g = extremely low, 750g =incredibly low
How do the fetal lungs adapt after birth?
Closure of foetal shunts, Perfusion of the lungs, Fall in pulmonary artery pressure, Increase in systemic blood pressure, Increase in cardiac output, Foetal lung fluid removed
Lungs filled with air, Surfactant released, Gas exchange
Have little surfactant from type 2 pneumocytes (which is used to reduce surface tension and therefore stop lungs from sticking together)
What are the premature lungs more at risk of?
Association with CLD - Officially needing oxygen at 36 weeks corrected age, Reduced lung volume, Reduced alveolar surface area, Diffusion defect
More likely to get SIDS
When do the alveoli develop?
24 weeks
What damages the premature lungs further?
Lung damage made worse by oxygen, sepsis and ventilation
how is the premature brain affected?
Less synpase connection and myelination (occurs at weeks 32 for 34)
As brainstem not fully myelinated they forget to breathe
What is the mx of premature neonates who forget how to breathe?
phosphodiesterase inhibitors-caffeine and NCPAP
What neurological problems are preterms more at risk of?
Cystic periventricular leukomalacia – death of oligodendrocytes
Ventricular haemorrhage
What are the benefits to the child of breastfeeding?
less infection Less immune driven/allergic disease: Wheezing, Childhood cancer, Eczema, Hodgkin's disease, Multiple sclerosis, Crohn's disease, Diabetes mellitus, Enhanced immunologic development Reduces risk of NEC Reduced Reduced SIDS Reduced Gastroesophageal Reflux Lower risk of Childhood Inguinal Hernia
What are the maternal benefits of breast feeding?
Reduces cancer risk for:
Breast, Ovarian, Endometrial
Improved health with less:
Post partum haemorrhage, postnatal depression, Decrease insulin requirements in diabetics, Osteoporosis later in life
Promotes postpartum weight loss
Less food and medical expense
More ecological
Delays fertility
Can children breastfeed without the suck and swallow reflex?
no - need to be bottle fed
What is necrotising enterocolitis?
serious illness in which tissues in the intestine become inflamed and start to die. This can lead to a perforation developing, which allows the contents of the intestine to leak into the abdomen -> infection, early feeds, plastcers
what are the sx of necrotising enterocolitis?
Poor feeding. A swollen abdomen. A change to the colour of the abdo. vomiting. Blood in the stools and a change in the appearance of the stools. increasingly unwell with SOB, poor obs
What is the mx of NEC?
Ix: do XR abdo
Mx: bowel rest and have abx and then do Operation to remove where parts of the bowel have died
Why are preterms more at risk of retinopathy?
eye develops relatively late on in pregnancy -> particularly blood vessels in retina
PLUS Outside the womb, the differing more hyperoxic conditions -> reduced levels of vascular endothelial growth factor (VEGF) -> vasoconstriction then vaso-obliteration and involution.
But eye continues to grow, resulting in a peripheral area of hypoxic retina. This ischaemia leads to increased levels of VEGF->
Tortuosity of vessels (plus disease).
Angiogenesis (pathological neovascularisation) -> fibrosis with membrane formation -> retinal traction -> retinal detachment -> loss vision
What treatment puts preterms more at risk of retinopathy?
treat hypoxia with oxygen, need to balance up retina with lungs
What is treatment for retinopathy of prematurity?
If high risk manage with laser therapy
what is done in the newborn health check?
Feel fontanelle check Jaundice Eyes – look for red reflex Look at palate to exclude cleft palate Palpate abdomen Feel femoral pulses Do sats Look at genitalia, feel scrotum, look anus patency Check tone
Primitive reflexes:
- moro- extend head suddenly causes extension hen flexion of arms
- grasp – flex around object in palm
- rooting-head turns towards stimulus touched near mouth
- stepping when help vertically and feet touch surface
- Sucking reflex
DDH – ortolani and barlow to dislocate and undislocate the hips
Look spine – neural tube defect
What are significant abnormalities in the newborn baby check?
Significant abnormalities: Port wine stain Strawberry naevus Teeth Extra digits Heart murmur Tuft hair, swelling or naevus a bottom spine Palpable bladder talipes equinovarus
What are the vertically transmitted infections? (TORCH)
Toxoplasmosis Others (e.g., syphilis, varicella, parvovirus B19 infection, listeriosis) Rubella Cytomegaly (CMV) Herpes simplex virus (HSV) infection
How does toxoplasmosis present and how is it avoided?
Classic triad
Chorioretinitis
Hydrocephalus
Diffuse intracranial calcifications (ring-enhancing lesions)
Petechiae and purpura (blueberry muffin rash)
AVOID cat poo + uncooked meat
Treat: Pyrimethamine, sulfadiazine, and folinic acid
How does congenital syphilis present?
Jaundice and hepatosplenomegaly Lymphadenopathy Nasal discharge (sniffles) Maculopapular rash (with desquamation of the palms and soles) Skeletal abnormalities
later: Frontal bossing, rhagades Hutchinson teeth Interstitial keratitis Sensorineural deafness Saber shins
How does congenital listeriosis present?
Spontaneous abortion and premature birth
Meningitis, sepsis
Vesicular and pustular skin lesion
How is congenital listeriosis avoided and how may it be treated?
Avoidance of unpasteurized dairy products and cold deli meats
treat with ampicillin and gentamycin
How may congenital VZV present?
Chorioretinitis, cataract Encephalitis Pneumonia CNS abnormalities Hypoplastic limbs
mx: Varicella-zoster immune globulin (VZIG)
Acyclovir
Breastfeeding
How does congenital rubella present?
Petechiae and purpura (blueberry muffin rash)
Congenital rubella syndrome (rare in developed countries)
IUGR
Sensorineural deafness
Cataracts
Heart defects (e.g., PDA, pulmonary artery stenosis)
CNS abnormalities (e.g., intellectual disability, speech defect)
Hepatitis
How does congenital CMV present?
(most common one in the UK) Jaundice, hepatosplenomegaly IUGR Chorioretinitis Sensorineural deafness Periventricular calcifications Petechiae and purpura (blueberry muffin rash) Microcephaly Seizures
How does congenital HSV present?
Premature birth, IUGR
Skin, eyes, and mouth involvement: vesicular lesions, keratoconjunctivitis
Localized CNS involvement: meningitis
Disseminated disease: multiple organ involvement, sepsis
Describe the apgar score
The Apgar score is used to describe a baby’s condi-
tion at 1 and 5 min after delivery
HR (<100 or absent), resp effort (are they crying?), muscle tone, reflex irritability )cries/ sneeze/ cough on stimulation vs grimace or nothing), colour (pink or blue)
A score of 0-3 is very low score, between 4-6 is moderate low and between 7 - 10 means the baby is in a good state
How does vitamin K deficiency effect the newborn?
may result in haemorrhagic disease of the newborn
RF: breasfeeding, anti-convulsants, liver disease.
All babies in UK are given vit K IM at birth
Why are premature babies at particular risk of hypothermia?
large SA: mass ratio
skin thin and permeable
little S/C fat insulation
What can be the complications of hypothermia in premature baby?
increased energy consumption
and may result in hypoxia and hypoglycaemia,
What are the complications with immunology for premature babies?
as IgG is mostly transferred across the placenta in the last trimester
often nosocomial (hospital-
derived); they are often associated with indwelling catheters or artificial ventilation.
infection contributes to bronchopulmonary dysplasia (chronic lung disease), white matter injury in the brain
and later disability.
What is the role of corticosteroids in BPD/CLD?
Corticosteroid therapy may facilitate earlier
weaning from the ventilator and often reduces the
infant’s oxygen requirements in the short term, but there are concerns about risk of abnormal neuro development -> only highest risk and short courses are given.
describe Achondroplasia
Achondroplasia is an autosomal dominant disorder associated with short stature. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR-3) gene. This results in abnormal cartilage giving rise to:
short limbs (rhizomelia) with shortened fingers (brachydactyly)
large head with frontal bossing and narrow foramen magnum
midface hypoplasia with a flattened nasal bridge
‘trident’ hands
lumbar lordosis
mx of CMV?
Ganciclovir and valganciclovir
Supportive care
