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Postpartum problems
https://t.me/med1917
Chapter 4: Obstetrics 97
Postpartum haemorrhage (PPH)
19
PRIMARY PPH: loss of >500ml blood within 24h of delivery (or >1000ml after
C-section)
Causes: 4Ts
• Tone: uterine atony (80%)
• Trauma: vaginal & cervical tears, episiotomy (20%)
• Tissue (retained placenta): partial separation causes accumulation of blood
in uterus – may not see external loss
• Thrombin (coagulopathies): congenital disorders, anticoagulant therapy, DIC
Prevention
• Routine oxytocin in 3rd stage (placental delivery)
→ avoid ergometrine/Syntometrine in hypertensive women
Management: GET SENIOR HELP
1. Resuscitation: nurse flat, O2, IV fluids ± blood transfusion (X-match, FBC,
clotting)
2. Identify cause: abdo palpation, VE/EUA, examine placenta, TV USS
3. Treat cause:
• Retained placenta: remove manually if bleeding or not delivered in 60min
• Uterine atony: IV oxytocin/ergometrine (contracts uterus) →
prostaglandin if persists
• Persistent haemorrhage: SURGERY (Rusch balloon, brace suture,
hysterectomy)
↳
for RPOC
RFs = prolonged labour, grand multiparity,
fibroids, overdistension (multiples/
polyhydramnios)
Risk factors for PPH
• Previous PPH
• Previous C-section
• Antepartum haemorrhage
• Instrumental/C-section delivery
• Prolonged labour
• Coagulopathies
• Multiparity, multiples
• Polyhydramnios
• Uterine abnormalities
SECONDARY PPH: excessive blood loss between 24h and 6w after delivery
Causes
• Endometritis ± retained placental fragments
Management
• Evacuation of retained products (ERPC)
• Antibiotics
19
Postpartum pyrexia
→ maternal fever >38°C in first 14d
CAUSES
Infection
1. Genito-urinary
→ Offensive lochia
→ Frequency, urgency, dysuria
→ Enlarged, tender uterus
2. Wounds/post-op
→ Inflamed, tender wound/incision sites
3. Mastitis
→ Painful, hard, red breast
→ Cellulitis
→ Flu-like symptoms
4. Other infections
→ Chest: SOB, cough, etc.
Common causative organisms:
Group A strep, staphylococcus, E. coli
C-section = major risk
Management: must exclude sepsis
• Inspection: of abdomen, breasts, calves,
IV access points, wounds
• Obs: temperature, BP
• Cultures: high vaginal, blood, urine
• Broad-spectrum ABX
• Paracetamol for pain relief: mastitis, wound
infection, etc. (safe in breastfeeding)
DVT / PE
Swollen, painful calves, SOB
19
RCOG (2016) Prevention and management of postpartum haemorrhage [GTG52]
98 Chapter 4: Obstetrics
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Thromboembolic disease
Prevention
• Early mobilisation & hydration
• Prophylactic LMWH if ≥1 moderate RF
Detection
PE: CXR, ABG, CT
DVT: Doppler USS
Management: subcutaneous LMWH
Psychiatric problems
Suicide = major cause of death postpartum
Risk factors for postnatal depression
• Previous postnatal depression
• PHx of moderate–severe depression
Risk factors for puerperal psychosis
• FHx of puerperal psychosis
• Primigravid
Baby blues: temporary emotional lability 3–4d post-delivery = 50% women
Postnatal depression: depressive Sx (often feelings of guilt/incapability) ±
thoughts of harming baby = 10% women
Management
• SSRIs
• Social support
• Psychotherapy
Puerperal psychosis: sudden onset psychotic Sx around day 4 = 0.2% women
Management
• Psychiatric admission
• Tranquilisers
More detail on postpartum mental health
in Chapter 6: Psychiatry
99
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PAEDIATRICS
Neonatology ...........................................................................100
Genetics & syndromes
Growth and puberty
Gastroenterology
Infection & immunology
Haematology
.......................................................................... 132
Paediatric oncology
Nephrology
Cardiovascular
.............................................................................. 142
....................................................................... 149
ABBREVIATIONS
5-ASA – 5-aminosalicylic acid
AABR – Automatedauditorybrainstem
response
ACTH – Adrenocorticotrophic hormone
ADHD – Attention deficit hyperactivity
disorder
AEDs – Anti-epileptic drugs
ALL – Acute lymphoblastic leukaemia
AML – Acute myeloid leukaemia
AOM – Acute otitis media
APH – Antepartum haemorrhage
APTT – Activated partial thromboplastin
time
BCG – Bacillus Calmette–Guérin
(anti-tuberculosis vaccine)
BMD – Becker muscular dystrophy
BR – Bilirubin
BW – Birth weight
CAH – Congenital adrenal hyperplasia
CMV – Cytomegalovirus
CVC – Central venous catheter
DDH – Developmental dysplasia of the hip
DMD – Duchenne muscular dystrophy
EBV – Epstein–Barr virus
EDD – Estimated delivery date
ELBW – Extremely low birth weight
EPO – Erythropoietin
ET tube – Endotracheal tube
FOOSH – Fall on outstretched hand
FTT – Failure to thrive
G6PD – Glucose 6 phosphate
dehydrogenase
GBS – Group B streptococcus
GDD – Global developmental delay
GH – Growth hormone
......................................................109
.......................................................... 113
................................................................ 118
................................................ 125
........................................................... 138
GORD – Gastro-oesophageal reflux disease
Hep – Hepatitis
HLHS – Hypoplastic left heart syndrome
HPLC – High performance liquid
chromatography
HPV – Human papillomavirus
HSP – Henoch–Schönlein purpura
HSV – Herpes simplex virus
HUS – Haemolytic uraemic syndrome
ID – Intellectual disability
ILGF – Insulin-like growth factor
ITP – Immune thrombocytopenic purpura
IUGR – Intrauterine growth restriction
IVH – Intraventricular haemorrhage
JIA – Juvenile idiopathic arthritis
LA – Left atrium
LBW – Low birth weight
LLSE – Lower left sternal edge
LMN – Lower motor neurone
LP – Lumbar puncture
MCH – Mean corpuscular haemoglobin
NAI – Non-accidental injury
NEC – Necrotising enterocolitis
NIPE – Newborn & infant physical
examination
NIPPV – Non-invasive positive pressure
ventilation
NTD – Neural tube defect
OAE – Otoacoustic emissions
OME – Otitis media externa
ORT – Oral rehydration therapy
PCP – Pneumocystis pneumonia
PCV – Pneumococcal conjugate vaccine
PDA – Patent ductus arteriosus
– Positron emission tomography
PET
Respiratory
Neurology
Musculoskeletal
Surgery
Community paediatrics
...............................................................................155
................................................................................. 163
....................................................................172
........................................................................................179
................................................... 185
Child & adolescent mental health
Safeguarding & abuse
Emergency paediatrics
...................................................... 191
.................................................... 193
PICU – Paediatric intensive care unit
PKD – Polycystic kidney disease
PKU – Phenylketonuria
(P)PROM – (Premature) Prelabour rupture
of membranes
PT – Prothrombin time
PTA – Pure tone audiometry
PTH – Parathyroid hormone
RDS – Respiratory distress syndrome
RIF – Right iliac fossa
ROM – Rupture of membranes
RSV – Respiratory syncytial virus
SBO – Small bowel obstruction
SCA/D – Sickle cell anaemia/disease
SCID – Severe combined
immunodeficiency
SLE – Systemic lupus erythematosus
STI – Sexually transmitted infection
SVC – Superior vena cava
TGA – Transposition of the great arteries
TIBC – Total iron-binding capacity
TM – Tympanic membrane
TMJ – Temporomandibular joint
TOF – Tetralogy of Fallot
TPO – Thyroid peroxidase
TTP – Thrombotic thrombocytopenic
purpura
UC – Ulcerative colitis
U(L/R)SE – Upper (left/right) sternal edge
URTI – Upper respiratory tract infection
VLBW – Very low birth weight
VO crises – Vaso-occlusive crises
VUR – Vesicoureteric reflux
VZV – Varicella zoster virus
WOB – Work of breathing
05
........................... 189
100 Chapter 5: Paediatrics
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Neonatology
Interpreting Apgar scores
0–3 = low
4–6 = moderate
7–10 = good
LBW <2.5kg
VLBW <1.5kg
ELBW <1kg
Biochemical screening: Guthrie/heel-prick
test:
6 inherited metabolic diseases
• PKU
• Homocystinuria
• Isovaleric acidaemia
• Glutaric aciduria type 1
• MSUD (maple syrup urine)
• MCAD (medium-chain acyl-CoA DH
deficiency)
Mitochondrial condition resulting in hypoglycaemia
+ 3 other congenital diseases:
• Hypothyroidism
• SCA & thalassaemia
• CF
Neonate = up to 4w
Apgar score
Appearance Blue/pale Pink body,
Pulse Absent <100 ≥100
Grimace
(reflex response)
Activity Absent/flaccid Some limb flexion Moving/active
Respiration Absent Gasping/irregular Strong cry/regular
1
0 1 2
Pink
Blue extremities
Absent Small (grimace) Large (cries/coughs)
Measure at 1, 5, 10min after birth
The normal neonate
Passing urine & meconium: within 24h
Regaining birth weight: 5–10% loss of BW in first 5d → regained by day10
Weight gain: ×2 in 18w (in 6w if preterm)
Fontanelle closure: posterior = 2nd month, anterior = 12–18m
Neonatal screening & surveillance
Newborn: NIPE + hearing screening (OAE/AABR)
5–9d: biochemical screening (heel-prick)
First 2w: midwife visits
6–8w: GP examination
Pre-school: orthoptist vision screening
Childhood immunisation schedule
2
Preterm babies should still get first
vaccines at 2m & follow the normal
schedule (regardless of gestation & BW)
BUT be aware of increased risk of adverse
side-effects
Live vaccines
Not if immunocompromised
• Oral polio
• Nasal flu
• MMR
• BCG
Contraindications to vaccines
• Previous anaphylaxis
• Immunocompromised
• Pregnancy (some vaccines)
• Hx of intussusception (rotavirus vaccine only)
Age Vaccination
2m
3m
4m
12–13m
2–8y
3–4y
12–13y
13–18y
1
Apgar V. (2015) A proposal for a new method of evaluation of the newborn infant. Originally
published in Curr Res Anesth Analg. 1953;32:260–7 reprinted Anesth Analg. 120:1056–9
2
NHS vaccinations and when to have them
• 6 in 1 (diphtheria, tetanus, polio, whooping cough, Hib, hep B)
• Oral rotavirus
• Men B
• 6 in 1 (diphtheria, tetanus, polio, whooping cough, Hib, hep B)
• Oral rotavirus
• PCV
• 6 in 1 (diphtheria, tetanus, polio, whooping cough, Hib, hep B)
• Men B
• Hib
• PCV
• Men B & Men C
• MMR (measles, mumps, rubella)
• Annual flu vaccine
• 4 in 1 (diphtheria, tetanus, polio, whooping cough)
• MMR (measles, mumps, rubella)
• HPV
• 3 in 1 (diphtheria, tetanus, polio)
• Men ACWY
Neonatology Chapter 5: Paediatrics 101
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Newborn problems
BIRTH MARKS (Fig. 5.1)
(a) Neonatal urticaria (erythema toxicum) → up to 50% infants
• At 2–3 days age → resolves within 2w
• White pinpoint papules on erythematous base
• Concentrated on the trunk ± other areas
(b) Naevus simplex (stork bites) → distension of capillaries
• Fade over 1y
• Pink macules on upper eyelids, forehead & neck
(c) Strawberry naevus (cavernous haemangioma)
• Appear in first month – size for 3–15m, then regress
• Only treat if complications: ulceration/haemorrhage, vision disturbance
(d) Port wine stain (naevus flammus) → vascular malformations
of dermal capillaries
• Grow with the infant – don’t disappear unless laser therapy
• May associate with vascular abnormalities elsewhere
▶ intracranial = Sturge–Weber syndrome
▶ on limbs = Klippel–Trénauny syndrome
(e) Café au lait spots
• If >5 develop by age 5y, see GP → associates with neurofibromatosis
(f) Mongolian blue spots → mostly Afro-Caribbean/Asian infants
• Fade over 1–2y
• Blue/black macular discolouration at spinal base & buttocks
• DDx: bruises
(g) Congenital melanocytic naevi (moles)
(a)
(c)
(e)
(b)
(d)
(f)
Fig. 5.1
BIRTH TRAUMA
• Caput succedaneum → swelling (oedema & bruising) of presenting part
▶ due to pressure against cervix during birth
▶ within skin → swelling crosses suture lines
▶ resolves in a few days
• Cephalohaematoma → bleeding below periosteum
▶ due to pressure on head during birth
▶ confined by margins of skull sutures
▶ resolves in a few weeks
• Chignon → oedema & bruising due to ventouse delivery
• Erb palsy → brachial plexus (C5,6) injury
▶ due to breech or shoulder dystocia
Fig. 5.2
▶ Sx: limp arm, hand pronated, fingers flexed (waiter’s tip)
▶ refer to orthopaedic surgeon if not resolved in 2–3m
STICKY EYE → narrow/blocked tear ducts affecting 1 in 20 babies
Sx: watery eyes ± sticky discharge
Mx: keep eyes clean (cotton swabs + saline)
→ if unresolved within a year, may need surgery to unblock ducts
Safety-net for signs of infection*
HAEMORRHAGIC DISEASE OF THE NEWBORN → presents in weeks 1–8,
due to vitamin K deficiency
Symptoms
• Mild: bruising, haematemesis, melaena, prolonged bleeding
• Severe: intracranial haemorrhage → disability/death
Management
• Prophylactic vitamin K at birth (1x IM injection or PO course)
(g)
Caput succadaneum
Cephalhematoma
Subgaleal hematoma
Epidural hematoma
*Signs of eye infection/conjunctivitis
• Red/sore/puffy eye
• Greenish/yellow discharge
• Light sensitivity
Causes
• Strep/staph → topical neomycin
• Gonococcal → IV penicillin/ceftriaxone
• Chlamydial → PO erythromycin
→ gonorrhoea/chlamydia can lead to
permanent blindness
Risk factors for haemorrhagic disease
• Wholly breast-fed (poor source of vit K)
• Mother taking anticonvulsants
• Neonates with liver disease
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Investigations for HIE
Amplitude-integrated EEG (aEEG):
Detects abnormal brain activity in neonates to
confirm early encephalopathy/seizures
HYPOXIC ISCHAEMIC ENCEPHALOPATHY (HIE)
0.1% of infants
→ perinatal asphyxia causes O2, CO2 and acidosis → poor tissue perfusion &
hypoxic damage to organs
Causes
• Failed gas exchange at placenta: prolonged contractions, placental abruption,
uterine rupture
• Interrupted umbilical blood flow: cord compression/prolapse
• Inadequate placental perfusion: maternal hyper-/hypotension
• Compromised fetus: IUGR, anaemia
• Failure of cardiorespiratory adaptation at birth
Symptoms: immediately or up to 48h after asphyxia
Mild Moderate Severe
• Irritable / response to
stimuli
• Staring eyes
• Hyperventilation
• Impaired feeding
Management
3
• Abnormal tone/movement
• Inability to feed
• Altered consciousness
• Seizures
• No spontaneous movement/
response to pain
• Hyper-/hypotonia
• Prolonged seizures
• Multi-organ failure
• Respiratory support
• Anticonvulsants (for seizures if correlated on aEEG)
• Fluids & inotropes (for hypotension)
• Monitor and treat hypoglycaemia & electrolyte imbalance
• Careful fluid monitoring (as transient renal impairment)
• Therapeutic hypothermia: cool to 33°C for 72h → reduces brain damage if
within 72h of birth
Prognosis
Mild HIE: complete recovery expected
• If abnormalities >2w, full recovery is unlikely
Severe HIE: 30–40% mortality
• 80% of survivors have neurodevelopmental disabilities → esp. cerebral palsy
most common cause
Jaundice noticed if: BR >80mol/L (5mg/dl)
*
Prolonged jaundice:
>2w (>3w if preterm)
Neonatal jaundice
→ >50% of newborns
CAUSES
• Physiological: high rate of RBC breakdown & less efficient bilirubin
metabolism
• Haemolytic disorders: likely if onset <24h from birth
▶ Rh/ABO incompatibility between mother and baby
▶ Inherited enzyme deficiencies e.g. G6PD deficiency, Crigler–Najjar
syndrome
▶ Abnormal RBCs e.g. spherocytosis
▶ Congenital infection
• Infection
• Biliary atresia: #1 cause of prolonged jaundice*
▶ Pathogenesis: progressive destruction/absence of bile ducts
▶ Sx: normal BW but failure to thrive, pale stools/dark urine
(hepatosplenomegaly may develop)
▶ Ix: deranged LFTs & conjugated bilirubin
3
EOE Neonatal (2021) Guidelines for management of infants with suspected hypoxic ischaemic
encephalopathy (HIE)
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▶ Dx: cholangiography (imaging of bile duct)
▶ Mx: Kasi procedure (connect jejunum to porta hepatis to bypass ducts)
→ liver transplant if unsuccessful
• Neonatal hepatitis syndrome: consider if prolonged jaundice
▶ Signs: liver inflammation with IUGR & hepatosplenomegaly at birth
▶ Sx: N&V, abdo pain, lethargy
▶ Causes: viruses (hep A/B/C, CMV, rubella), α1 antitrypsin deficiency, CF
Summary of causes of neonatal jaundice
<24h = Pathological 1–14d >2w
Haemolysis:
• Rh/ABO
• Thalassaemia
• G6PD
Infection:
• Sepsis
• Congenital e.g. rubella
BLACK = unconjugated
GREY = conjugated
RBC turnover:
• Physiological
• Polycythaemia
Enzyme deficiency:
• Crigler–Najjar/ Gilbert’s
• G6PD deficiency
• Hypothyroidism
Other:
• Dehydration
• Breast milk jaundice
Enzyme deficiency:
• Crigler–Najjar/ Gilbert’s
• G6PD deficiency
• Hypothyroidism
Hepatitis:
• Hep A, B, C
• CMV, rubella, HSV
• CF
Metabolic:
• α1 antitrypsin deficiency
Biliary atresia
Ix for specific causes
General
• Physical
examination
• FBC
• LFTs, U&Es
Infection
• CRP/ESR
• Blood/urine culture
Haemolysis
• Blood group (mum
& baby)
• Coombs test
Other
• G6PD levels
• Hep A/B/C
antibodies
• Cholangiography
Unconjugated BR: prehepatic cause
• Haemolysis, infection, physiological
→ normal stools & urine
Conjugated BR: intra/post-hepatic cause
• Biliary atresia, hepatitis syndrome
→ pale stools & dark urine
Assess severity
• Skin blanch test
• BR levels (transcutaneous meter)
COMPLICATIONS
Kernicterus: encephalopathy resulting from deposition of unconjugated bilirubin
• Bloods: serum BR
(conjugated vs. unconjugated)
in the brain
Symptoms of jaundice: severity with
MANAGEMENT4: use chart to determine appropriate Tx
BR levels
1. Ensure hydration: daily weighing & assess wet nappies
2. Phototherapy: blue-green band wavelengths → convert unconj. BR to
water-soluble pigment → excreted in urine
3. Exchange transfusion: if very dangerous BR levels → replace twice the
• Lethargic/irritable
• Muscular twitching
• Seizures/coma
• Poor feeding
• Opisthotonos
(hypertonia & back
arching)
• Death if untreated
infant’s blood volume with donor blood
Neonatal respiratory distress (NRD)
CAUSES
• Respiratory distress syndrome (RDS) = surfactant deficiency
▶ RFs: preterm, maternal diabetes
▶ Prevention: steroids 48h before delivery (if <34w)
▶ Mx: artificial surfactant + ambient O
• Transient tachypnoea of the newborn (TTN)* = delayed reabsorption
of lung fluid
▶ RFs: C-section delivery, preterm, maternal analgesics/
anaesthetics, maternal asthma/diabetes
▶ Ix: Dx of exclusion (CXR for other causes)
▶ Mx: ambient O2 → resolves in 24h
• Meconium aspiration = follows meconium passing (may be triggered by hypoxia)
▶ RFs: gestational age, fetal hypoxia
▶ Complications: mechanical obstruction + chemical pneumonitis
(lungirritant), infection, pneumothorax
4
NICE (2010, updated 2016) Jaundice in newborn babies under 28 days [CG98]
↳ surfactant only produced from 24w
2
↳ 1% preterm
↳ 0.4% term
Complications of kernicterus
• Cerebral palsy
• Learning difficulties
• Sensorineural deafness
*
most common cause
of NRD
Symptoms of NRD
• Tachypnoea (>60 breaths/min)
• Nasal flaring & chest wall recession
• Expiratory grunting
• Cyanosis (if severe)
NB Infants may suffer respiratory depression if
mother took opiate analgesics in labour
Tx: naloxone
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▶ Ix: CXR – overinflated, patches of collapse & consolidation
▶ Mx: mechanical ventilation
• Pneumonia = neonatal respiratory distress + signs of infection
(fever,respiratory crackles)
▶ RFs: PPROM, chorioamnionitis, LBW
▶ Ix: CXR – consolidation
▶ Mx: broad-spectrum ABX + ambient O
2
• Other
▶ pneumothorax: spontaneous (2% births) or
2° to meconium aspiration, ventilation or RDS
Fig. 5.3 Respiratory distress syndrome:
bilateral, uniform hazy, ‘ground glass’
appearance; reduced lung expansion.
If RFs present give prophylactic ABX in labour
▶ diaphragmatic hernia: usually LHS →
confirmed on X-ray
Gastrointestinal disorders
Fig. 5.4 Bilateral pneumothorax
(dark air-fields).
CAUSES
• Oesophageal atresia = associates with other
congenital malformations
▶ RFs: polyhydramnios
▶ Sx: persistent salivation/drooling, aspiration/
choking on feeding
▶ Mx: surgery
Bowel atresia/stenosis: congenital
malformation
→ often seen in polyhydramnios/Down’s
Meconium ileus: very thick meconium
impacted in ileum
→ 90% have CF
DDx bilious vomiting: always Ix with AXR to
exclude obstruction
• Atresia/stenosis of small bowel
• Malrotation of bowel
• Volvulus
• Meconium ileus
• NEC (necrotising enterocolitis)
DDx poor feeding
• Neurological disorder e.g. cerebral palsy
• Cleft lip/palate
• Neck/head abnormalities
• Premature/LBW
• Respiratory problems
• GI problems
• Small bowel obstruction = associates with
Downsyndrome, CF & prematurity
▶ Causes: duodenal atresia/stenosis, volvulus
rotation, meconium ileus/plug
▶ Sx: persistent vomiting (bile-stained), slow/
absent meconium passage, abdo distension
▶ Ix: X-ray & contrast studies
▶ Mx: surgery or dislodge meconium with
contrast medium (gastrografin enema)
• Large bowel obstruction
▶ Causes: Hirschsprung disease
(absent rectal nerve plexus),
rectal atresia
▶ Sx: same as for SBO
▶ Mx: surgery
• Exomphalos/omphalocele =
protrusions of bowel through
umbilicus (Fig. 5.6)
▶ Covered with transparent sac
▶ Associates with other major
congenital abnormalities (trisomies
13, 15, 18 & Beckwith–Wiedemann)
▶ Mx: IV ABX & surgical repair
• Gastroschisis = protrusions of bowel
through abdominal wall (paraumbilical)
(Fig.5.7)
▶ No covering of bowel contents
▶ Mx: IV ABX & surgical repair within 4h
RFs of gastroschisis:
Fig. 5.5 ‘Double bubble’
sign: indicates duodenal
atresia (or stenosis).
Fig. 5.6 Exomphalos.
Fig. 5.7 Gastroschisis.
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Congenital abnormalities
→ detected prenatally, at birth or later in infancy
→ structural or functional anomalies that occur during intrauterine life
RISK FACTORS
• Consanguinity
• Ethnic minorities with high prevalence of rare genetic mutations
• Low socioeconomic background
• Maternal exposure to pesticides, medications, alcohol, tobacco, radiation
• Congenital infections (rubella, syphilis, etc.)
• Maternal folate insufficiency (NTDs)
NEURAL TUBE DEFECTS (NTDs)
= failed fusion of neural plate to form neural tube in first 28d after conception
Risk factors
• Poor folate intake – all women advised to take folate preconception
• Previous baby with NTD – high risk women advised high dose folate
preconception
NTD Definition Complications Mx
Anencephaly Failed development of most of brain & cranium
• Stillbirth
• Death shortly after birth
Encephalocele Extrusion of brain & meninges through midline skull defect Underlying cerebral malformations Surgery
Spina bifida occulta: Failed fusion of vertebral arch Overlying skin lesion in lumbar region
e.g. hair patch, lipoma, birth mark
400 micrograms OD from preconception to 12w
5mg OD from preconception to 12w
Terminate pregnancy
(Dx: antenatal USS)
Surgery
Underlying cord defect
→
bladder dysfunction / leg paralysis
a) Meningocele Protruding sac of CSF but no neural tissue Surgery
b) Myelomeningocele Protruding sac of CSF, and neural tissue
• Variable leg paralysis • Sensory loss
• Muscle imbalance • Scoliosis
• Bladder dysfunction • Hydrocephalus
Surgery
± physiotherapy
± catheterisation
VACTERL ASSOCIATION = disorder affecting multiple organ systems (agroup of
associated congenital abnormalities)
↳ Vertebral, Anorectal, Cardiac, Tracheo-oEsophageal, Renal, Limb
↳ Cause: sporadic/random
AMBIGUOUS GENITALIA = external genitalia is neither definitely male orfemale
Cause: hormonal imbalance in early embryonic development preventing
differentiation of the genitalia
Ix: chromosome evaluation, USS (for uterus), endocrine studies
↳ Female pseudo-hermaphroditism = females with male genitalia
▶ Cause: congenital adrenal hyperplasia (CAH), maternal ingestion of hormones
▶ Sx: enlarged clitoris resembling a penis & wrinkled labia majora
▶ Dx: USS confirms presences of uterus & ovaries
↳ Male pseudo-hermaphroditism = females with male genitalia
▶ Cause: insensitivity of genitalia to testosterone, enzyme deficiencies,
maternal ingestion of hormones
▶ Sx: hypoplastic penis resembling clitoris
↳ Congenital adrenal hyperplasia (CAH) = autosomal recessive
▶ Cause: lack of enzyme for cortisol synthesis = ACTH = androgen
production & adrenal hyperplasia
▶ Sx: ambiguous genitalia, adrenal crisis in 2nd–3rd w of life
▶ Ix: U&Es, hormone screen ( serum 17-hydroxyprogesterone levels,
21-α-hydroxylase)
fail to feed, vomit, dehydration, BP, +,
+
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CONGENITAL DIAPHRAGMATIC HERNIA = defect in diaphragm
soabdominal contents enter chest cavity
↳ Results in pulmonary hypoplasia (inadequate lung development)
Signs/symptoms
• Respiratory distress/cyanosis shortly after birth → failure to respond to
resuscitation
• Chest wall asymmetry
• Displaced apex beat (opposite side to herniation)
• Bowel sounds audible over chest wall
Investigations
• Antenatal USS – often detected
before birth
• CXR/CT
Management
• NG tube + suction
• Surgical repair
1 in 4000
POTTER SYNDROME = typical physical characteristics due to oligohydramnios
that is secondary to kidney agenesis
Cause: fetal kidney agenesis/dysgenesis → low urine output → oligohydramnios
→ pressure on fetus
Features
• ‘Frog-like face’
• Low-set ears
• Beaked nose
• Wide-set, down-slanting eyes
Complications
• Pulmonary hypoplasia → respiratory
failure
• Death shortly after birth
Cleft lip Cleft palate
Fig. 5.8
TALIPES CLUBBED FOOT = inverted feet (M:F = 3:1)
• Positional: due to squashed feet in womb
→ reassure parents: resolves after birth → common
• Structural: muscles/bones do not grow straight
→ Tx with plaster cast & special footwear → 1 in 1000
Diagnosis: antenatal USS, but cannot tell which type until birth
Causes: idiopathic, familial, oligohydramnios, neuromuscular disorder
Associations: developmental dysplasia of the hip (DDH)
DEVELOPMENTAL DYSPLASIA OF THE HIP DDH = congenital dislocation
of the hip
Risk factors
• Female ( × 6)
• FHx of DDH
• Breech birth
• Neuromuscular disorder
Diagnosis
Tested for on examination of the neonate
Management: specialist orthopaedic
opinion
Early splinting in abducted position
CLEFT LIP & PALATE → 0.08% babies (1 in 700)
Cleft lip: failed fusion of frontonasal & maxillary processes
Cleft palate: failed fusion of palatine processes & nasal septum
Causes
• Inherited polygenically (most)
• Chromosomal disorders
• Maternal anticonvulsants
Symptoms
• Poor feeding
• Secretory otitis media
• Dental problems
• Speech problems
Management
• Surgical repair
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