Neonatal Medicine Flashcards by Kim Alipio

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

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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

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Down’s Syndrome Mx

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What can you see in a blood film with Trisomy 21

transient abnormal myelopoiesis

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What is this one?

Edwards (Trisomy 18)

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Patau (Trisomy 13)

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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

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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

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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

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Causes of jaundice in the first 24 hours of birth

ALWAYS pathological

Haemolytic

rhesus haemolytic disease
ABO haemolytic disease
hereditary spherocytosis
G6P

TORCH

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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

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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

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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

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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

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Summary of childhood syndromes

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what is this condition?

Supravalvular aortic stenosis is found in a 3-year-old boy with learning difficulties

William’s syndrome

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what is this condition?

Supravalvular aortic stenosis is found in a 3-year-old boy with learning difficulties

William’s syndrome

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What is this condition?

A 2-week-old infant with a small chin, posterior displacement of the tongue and cleft palate

Pierre-Robin Syndrome

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What is this condition?

Noonan syndrome

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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)

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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?

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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

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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?

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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

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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 p**ulmonary hypoplasia and hypertension which causes respiratory distress s**hortly 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?

_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 v**entilation → 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)