Neonatal Medicine Flashcards
Down’s syndrome: clinical features, cardiac complications, later complications
Clinical features
- face: upslanting palpebral fissures, epicanthic folds, Brushfield spots in iris, protruding tongue, small low-set ears, round/flat face
- flat occiput
- single palmar crease, pronounced ‘sandal gap’ between big and first toe
- hypotonia
- congenital heart defects (40-50%, see below)
- duodenal atresia
- Hirschsprung’s disease
Cardiac complications
- multiple cardiac problems may be present
- endocardial cushion defect (most common, 40%, also known as atrioventricular septal canal defects)
- ventricular septal defect (c. 30%)
- secundum atrial septal defect (c. 10%)
- tetralogy of Fallot (c. 5%)
- isolated patent ductus arteriosus (c. 5%)
Later complications
- subfertility: males are almost always infertile due to impaired spermatogenesis. Females are usually subfertile, and have an increased incidence of problems with pregnancy and labour
- learning difficulties
- short stature
- repeated respiratory infections (+hearing impairment from glue ear)
- acute lymphoblastic leukaemia
- hypothyroidism
- Alzheimer’s disease
- atlantoaxial instability
Down’s syndrome: antenatal testing
NICE issued guidelines on antenatal care in March 2008 including advice on screening for Down’s syndrome
- the combined test is now standard
- nuchal translucency measurement + serum B-HCG + pregnancy-associated plasma protein A (PAPP-A)
- these tests should be done between 11 - 13+6 weeks
- Down’s syndrome is suggested by ↑ HCG, ↓ PAPP-A, thickened nuchal translucency
- trisomy 18 (Edward syndrome) and 13 (Patau syndrome) give similar results but the PAPP-A tends to be lower
- if women book later in pregnancy either the triple or quadruple test should be offered between 15 - 20 weeks
- triple test: alpha-fetoprotein, unconjugated oestriol, human chorionic gonadotrophin
- quadruple test: alpha-fetoprotein, unconjugated oestriol, human chorionic gonadotrophin and inhibin-A
Everything DOWN with Down Syndrome except things that are HI (sounds like high)
HI = HCG and Inhibin A
Low = AFP
Down’s Syndrome Mx
What can you see in a blood film with Trisomy 21
transient abnormal myelopoiesis
What is this one?
Edwards (Trisomy 18)
Patau (Trisomy 13)
Caput succedaneum vs Cephalohaematoma
Caput succedaneum
- soft, puffy swelling due to localised oedema
- crosses suture lines
Cephalohaematoma
- Jaundice may develop as a complication.
- A cephalohaematoma up to 3 months to resolve
- *C aput S uccedenum**
- *C rosses S utures**
Caput SuccaDAYneum (Crosses Sutures) - resolves within a few days cephalohaematoMONTH (doesn't cross sutures) - resolves within a few months
Causes of neonatal hypotonia and maternal causes
Causes of neonatal hypotonia include:
- neonatal sepsis
- Werdnig-Hoffman disease (spinal muscular atrophy type 1)
- hypothyroidism
- Prader-Willi
Maternal causes
- maternal drugs e.g. benzodiazepines
- maternal myasthenia gravis
What syndrome has loss of function of chromosome 15? and what are it’s features
Prader-Willi syndrome
Prader-Willi syndrome is an example of genetic imprinting where the phenotype depends on whether the deletion occurs on a gene inherited from the mother or father:
- Prader-Willi syndrome if gene deleted from father
- Angelman syndrome if gene deleted from mother
Prader-Willi syndrome is associated with the absence of the active Prader-Willi gene on the long arm of chromosome 15. This may be due to:
- microdeletion of paternal 15q11-13 (70% of cases)
- maternal uniparental disomy of chromosome 15
Features
- hypotonia during infancy
- dysmorphic features
- short stature
- hypogonadism and infertility
- learning difficulties
- childhood obesity
- behavioural problems in adolescence
Causes of jaundice in the first 24 hours of birth
ALWAYS pathological
Haemolytic
- rhesus haemolytic disease
- ABO haemolytic disease
- hereditary spherocytosis
- G6P
TORCH
Causes of jaundice in the neonate from 2-14 days
common (up to 40%) and usually physiological
factors such as more RBCs, more fragile RBCs and less developed liver function (e.g. BRUISING)
more commonly seen in breastfed babies
Causes of prolonged jaundice after 14 days
biliary atresia
hypothyroidism
galactosaemia
UTI
breast milk jaundice
- more common in breastfed babies (high concentrations of b-glucoronidase → increased intestinal absorption of UBR)
prematurity (more than 21 DAYS IS PROLONGED)
- immature liver function
- increased risk of kernicterus (high BR damage brain -→ athetoid cerebral palsy, hearing loss, vision/teeth problems, intellectual disability
What is in an prolonged jaundice screen?
C + UBR = MOST IMPORTANT as raised CBR could indicate biliary atresia which requires urgent surgical intervention
DAT (Coombs’ test)
TFTs
FBC and blood film
urine for MC+S and reducing sugars
U+Es and LFTs
Neonatal Jaundice management
physiological = reassurance and observation
pathological = referral for immediate paediatric assessment
Pathological unconjugated
acute BR encephalopathy
- immediate exchange transfusion
- phototherapy
- hydration
- IVIG
total BR >95% centile for phototherapy (plot level on tx graph)
- phototherapy
- hydration
total BR >95% for exchange transfusion (plot level on tx graph)
- exchange transfusion
- phototherapy
- hydration
- IVIG
Pathological conjugated
- tx underlying cause e.g. surgery for biliary atresia
Breast milk jaundice
- breastfeeding can usually continue as normal
- use BR to direct mx
Summary of childhood syndromes
what is this condition?
Supravalvular aortic stenosis is found in a 3-year-old boy with learning difficulties
William’s syndrome
what is this condition?
Supravalvular aortic stenosis is found in a 3-year-old boy with learning difficulties
William’s syndrome
What is this condition?
A 2-week-old infant with a small chin, posterior displacement of the tongue and cleft palate
Pierre-Robin Syndrome
What is this condition?
Noonan syndrome
What is this condition?
Characteristic cry (hence the name) due to larynx and neurological problems
Feeding difficulties and poor weight gain
Learning difficulties
Microcephaly and micrognathism
Hypertelorism
Cri du chat syndrome (chromosome 5p deletion syndrome)
You are asked to review a term neonate on the postnatal wards. On examination of the palate, you notice a white-coloured nodule at the roof of the mouth. This is not interfering with feeding and baby is alert and active. What is the most likely diagnosis?
Epstein’s pearls are found in the posterior hard palate, along the midline. They do not require treatment.
can be mistaken for neonatal teeth (very rare and usually present at the site of the incisors)
A congenital cyst found in the mouth. They are common on the hard palate, but may also be seen on the gums where the parents may mistake it for an erupting tooth. No treatment is generally required as they tend to spontaneously resolve over the course of a few weeks.
Apgar Scoring to assess the health of a newborn baby
Appearance, Pulse, Grimace, Activity, Respiration
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
MUST be assessed by neonate if any of the below are seen after meconium has passed:
- respiratory rate above 60 per minute
- the presence of grunting
- heart rate below 100 or above 160 beats/minute
- capillary refill time above 3 seconds
- temperature of 38°C or above, or 37.5°C on 2 occasions 30 minutes apart
- oxygen saturation below 95%
- presence of central cyanosis
What is Turner’s Syndrome and it’s features?
45,XO or 45,X (presence of only one sex chromosome or a deletion of the short arm of one of the X chromosomes)
Features:
- short stature
- shield chest, widely spaced nipples
- webbed neck
- AORTA = bicuspid aortic valve, aortic root dilatation, coarctation of the aorta
- primary amenorrhoea
- cystic hygroma (often diagnosed prenatally)
- high-arched palate
- short 4th metacarpal
- multiple pigmented naevia
- lymphoedema in neonates (especially feet)
- gonadotrophin levels will be elevated
- hypothyroidism
- horsehoe kidney
Increased incidence of AI disease (AI thyroiditis) and CD
What is RDS/SDLD and risk
Surfactant deficient lung disease (SDLD, also known as respiratory distress syndrome and previously as hyaline membrane disease) is a condition seen in premature infants. It is caused by insufficient surfactant production and structural immaturity of the lungs
The risk of SDLD decreases with gestation
- 50% of infants born at 26-28 weeks
- 25% of infants born at 30-31 weeks
Other risk factors for SDLD include
- male sex
- diabetic mothers
- Caesarean section
- second born of premature twins
Clinical features of RDS and ix feature
tachypnoea, intercostal recession, expiratory grunting and cyanosis
CXR = ground-glass appearance with indistinct heart border
How do we mx RDS?
ABC resuscitation
Respiratory support
- ambient/headbox/nasal cannula O2 if baby = comfortable, FiO2 <0.3, blood gas normal
- nasal CPAP (nCPAP) if baby = >3o wk and >1000g, baby looks well, FiO2 <0.4, pH <7.2, PCO2 <7.0-7.5
- PPV if baby = does not meet above parameters
Fluids
- 60ml/kg/day
- initially dextrose
IV abx
- BS = penicillin-V + gentamicin (if listeria → amoxicillin and gentamicin)
CXR
- ASAP unless mild respiratory distress where this can be delayed
Review Hx + exam to identify cause
RDS complications
pneumothorax, pulmonary haemorrhage, lung scarring (BPD)
Brain damage due to hypoxia – risk of developmental disabilities.
What is Necrotising Enterocolitis and its symptoms?
One of the leading causes of deaths among premature infants
Gut inflamed and starts to die from gut immaturity. Necrotising enterocolitis is one of the leading causes of death among premature infants.
Initial symptoms can include
- Feeding intolerance
- Abdominal distension
- Bloody stools
Can quickly progress to
- Abdominal discolouration
- Perforation
- Peritonitis
What can you see in a Necrotising enterocolitis AXR?
- dilated bowel loops (often asymmetrical in distribution)
- bowel wall oedema
- pneumatosis intestinalis (intramural gas)
- portal venous gas
- pneumoperitoneum resulting from perforation
- air both inside and outside of the bowel wall (Rigler sign)
- air outlining the falciform ligament (football sign)
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia (CDH) occurs in around 1 in 2,000 newborns. It is characterised by the herniation of abdominal viscera into the chest cavity due to incomplete formation of the diaphragm. This can result in pulmonary hypoplasia and hypertension which causes respiratory distress shortly after birth.
Pathophysiology
- usually represents a failure of the pleuroperitoneal canal to close completely
The most common type of CDH is a left-sided posterolateral Bochdalek hernia which accounts for around 85% of cases.
Only around 50% of newborns with CDH survive despite modern medical intervention.
CDH Mx
antenatal = MDT with birth at neonatal surgical centre
resus after birth
- intubate (avoid face mask to minimise gastric distention)
- PPV +/- HFOV
- Wide-bore NG tube
- IV and arterial access
- sedation and muscle relaxation
- PPHNB = common and may require iNO
Surgery
- delayed repair = stable and improving pulmonary HTN
- Diaphragmatic defect closed with primary repair or synthetic patch
ECMO
- if pulmonary HTN not improving
What is this?
Features in males
- learning difficulties
- large low set ears, long thin face, high arched palate
- macroorchidism
- hypotonia
- autism is more common
- mitral valve prolapse
How do we diagnose it?
Fragile X
- Can be made antenatally by chorionic villus sampling or amniocentesis
- analysis of the number of CGG repeats using restriction endonuclease digestion and Southern blot analysis
What is this?
- often taller than average
- lack of secondary sexual characteristics
- small, firm testes
- infertile
- gynaecomastia - increased incidence of breast cancer
- elevated gonadotrophin levels but low testosterone
Klinefelter’s Syndrome, 47 XXY
Features
- ‘delayed puberty’
- hypogonadism, cryptorchidism
- anosmia (loss of smell)
- sex hormone levels are low
- LH, FSH levels are inappropriately low/normal
- patients are typically of normal or above average height
Cleft lip/palate and visual/hearing defects are also seen in some patients
Kallmann’s syndrome is a recognised cause of delayed puberty secondary to hypogonadotropic hypogonadism
X-linked recessive
failure of GnRH-secreting neurons to migrate to the hypothalamus.
What is this?
Features
- dextrocardia or complete situs inversus
- bronchiectasis
- recurrent sinusitis
- subfertility (secondary to diminished sperm motility and defective ciliary action in the fallopian tubes)
Kartagener’s syndrome (also known as primary ciliary dyskinesia)
most frequently occurs in examinations due to its association with dextrocardia (e.g. ‘quiet heart sounds’, ‘small volume complexes in lateral leads’)
Pathogenesis
- dynein arm defect results in immotile cilia
Common features include congenital heart disease (e.g. tetralogy of Fallot), learning difficulties, hypocalcaemia, recurrent viral/fungal diseases, cleft palate
What is the underlying defect?
22q11.2 deletion, failure to develop 3rd and 4th pharyngeal pouches
What is chronic lung disease of prematurity?
What is chronic lung disease of prematurity?
Bronchopulmonary dysplasia → BPD
More common in premature infants, increase risk in LBW or low GA
O2 dependence at 36w postmenstrual age (GA + chronological)
Causes: lung damage → artificial ventilation, O2 toxicity, infection
Clinical features:
- 23-26w GA ventilation → CPAP → supplementary O2
- initially positive response then increase in O2 and ventilatory requirements in first 2 weeks of life
- respiratory distress, poor feeding, poor weight gain
What investigations for Chronic lung disease of prematurity (BPD)
CXR → widespread areas of opacification
CBG or VBG → acidosis, hypercapnia, hypoxia
Mx and prevention of BPD
- Respiratory support → prolonged artificial ventilation
- most weaned onto CPAP, then additional O2
- +/- corticosteroid therapy = dexamethasone for ST clinical improvement (limited use as abnormal neurodevelopment etc.)
Strict monitoring and maintaining of tidal volume to come off intubation and ventilation to minimise ventilation-associated lung injury
What are the features of congenital hypothyroidism and what is the threshold time to tx before irreversible cognitive impairment. What ix?
- prolonged neonatal jaundice
- delayed mental & physical milestones = feeding difficulties, lethargy, constipation
- short stature
- puffy face, macroglossia
- hypotonia
4 weeks
Ix =
- high TSH, low T4,
- measure thyroid autoantibodies +/- US or radio nucleotide scan
How do we mx congenital/neonatal hypothyroidism
PO L-Thyroxine (T4) within 2-3 weeks to reduce risk of neurodevelopment
LIFE-LONG oral thyroxine replacement titrating dose to maintain normal growth, TSH and T4 levels
- monitor TFTs, milestones and development
With adequate and early intervention, intelligence and development should be normal
Newborn Respiratory Distress (Hyaline Membrane Disease)
Subglottic stenosis
MLB, ENT specialist review
congenital and acquired
TOF and OA
Newborn RDS (hyaline membrane disease)
Newborn RDS (hyaline membrane disease)
Transient Tachypnoea of the Newborn (TTN)
Transient Tachypnoea of the Newborn (TTN)
Persistent pulmonary HTN of the newborn (PPHN)
Persistent pulmonary HTN of the newborn (PPHN)
2 causes of pulmonary hypoplasia
- oligohydramnios
- CDH
