Neonatal and congenital abnormalities Flashcards
What is biliary atresia?
Obliteration or discontinuation of extra-hepatic bile ducts. Results in biliary obstruction which causes cholestasis in first few weeks of life.
What are the different types of biliary atresia?
Type 1: proximal duct patent but common duct obliterated.
Type 2: Atresia of cystic duct and cystic structures.
Type 3: Atresia of left and right ducts at level of portis hepatis.
Presentation of biliary atresia?
Typically presents in first few weeks of life with:
Jaundice (extending beyond physiological two weeks).
Dark urine and pale stools.
Appetite and growth disturbance.
Signs - Jaundice, hepatosplenomegaly, abnormal growth, cardiac murmurs.
Investigations for biliary atresia
Conjugated and total bilirubin (total bilirubin may be normal whereas conjugated bilirubin is high)
LFTs
Serum alpha 1- antitrypsin.
Chloride sweat test.
Ultrasound of biliary tree.
Percutneous liver biopsy
What is the management and complications of biliary atresia?
Rx: Surgery is the only definitive treatment.
Complications: Unsuccessful anastamosis, progressive liver disease, cirrhosis with eventual HCC
Causes of jaundice in the newborn in the first 24 hours?
ALWAYS pathological:
- Rhesus haemolytic disease,
- ABO haemolytic disease,
- Hereditary spherocytosis,
- G6PD deficiency
Causes of jaundice in neonate from 2-14 days?
Usually physiological due to more RBCs, more fragile RBCs and less developed liver.
Breast milk jaundice - lots of reasons why eg, breast milk may inhibit livers ability to process bilirubin.
Other causes: dehydration, infections, haemolysis, polycythaemia, crigler-Najjar synndrome
Causes of jaundice in neonate > 14 days
This is defined as prolonged jaundice (>21 days in premature babies). Causes are;
Biliary atresia,
Hypothyroidism,
Galatosaemia,
UTI,
Breast milk jaundice,
Prematurity,
Congenital infections eg, CMV
Investigations for prolonged jaundice?
Prolonged jaundice screen is performed:
Conjugated and unconjugated bilirubin (conjugated may suggest biliary atresia),
Direct antiglobulin test (coombs test),
TFTs,
FBC and blood film,
Urine for MC&S,
U&Es,
LFTs
What is a cephalohaematoma?
Swelling on newborns head due to bleeding between periosteum and skull. More common with difficult deliveries/ventouse.
Most commonly seen on parietal region.
Jaundice may develop as complication.
May take up to 3 months to resolve
What is caput seccedaneum?
Oedema of the scalp at presenting part of head (typically vertex).
May be due to trauma of scalp pushing through cervix, prolonged selivery or use of ventouse.
Presents as soft, puffy swelling which crosses suture lines.
No treatment needed.
What are the common variants of cleft palate?
Isolated cleft lip,
Isolated cleft palate
Combined cleft lip and palate
What is the pathophysiology of cleft lip/palate?
Cleft lip - Failure of fronto-nasal and maxillary processes to fuse.
Cleft palate - failure of palatine processes and nasal septum to fuse.
OVERALL - failure of fusion of maxillary processes.
Increased risk with maternal antiepileptic use.
What are the problems with cleft lip/palate?
Feeding - orthodontic device may be helpful.
Speech - need for speach therapy.
Increased risk of otitis media with cleft palate.
What is the management of cleft lip/palate?
Cleft lip - repaired earlier than palate. Varies between first week to three months.
Cleft palate - repaired between 6-12 months of age.
What are the definitions of the following:
1. Anencephaly
2. Encephalocele
3. Microcephaly
- Anencephaly - Majority of scalp, skull and cerebral hemisphere do not develop. Always fatal.
- Encephalocele - protrusion of brain and meninges through midline defect in skull.
- Microcephaly - small head due to incomplete brain development/aresst of brain growth
Causes of microcephaly?
Normal variation,
Familial,
Congenital infection,
Perinatal brain injury (hypoxic ischaemic encephalopathy),
Fetal alcohol syndrome,
Chromosomal syndromes (Patau)
Craniosynostosis.
Name some examples of disorders of neuronal migration
Lissencephaly - absence of gyri,
Holoprosencephaly - failure of forebrain to separate into two cerebral hemispheres,
Schizencephaly.
They are a spectrum of disorders which may result in learning difficulties, developmental delay, seizures and inutero death
Describe features of a sacral dip
Dimple or indentation over sacrum. Harmless if base is seen or below natal cleft.
Describe features of preauricular pits and tags?
Pits - dimple/indentation in skin anterior to tragus. Weak association with renal abnormalities.
Tag - skin tags anterior to tragus. Harmless but may be referred to plastics
Describe features of tracheo-oesophageal fistula
Communication between trachea and oesophagus. Often associated with other syndromes.
Presents with coughing/chocking during feeding, abdo distention and recurrent chest infections.
Diagnosed with bronch.
Treat with surgery
Features of duodenal atresia
One third also have downs syndrome.
Presents with bilious vomiting shortly after birth.
Abdo x ray shows double bubble sign.
Prognosis is excellent with surgery.
Describe features of exomphalos/omphalocele
Hernia into base of umbilical cord covered by sac.
Often associated with chromosomal abnormalities.
Surgical repair needed and must be done in stages.
What is gastroschisis?
Defect in abdomen to right of umbilicus with protrusion of contents not covered by sac. Bowel is often in poor condition and needs resented.
Describe features of hypospadias?
Urethral opening on underside of penis.
Surgical repair performed at 12-18 months.
Parents should not have child circumcised as foreskin needed for repair.
Describe features if imperforate anus
presents shortly after birth with failure to pass meconium, bilious vomiting and abdominal distention.
Describe features of a diaphragmatic hernia?
May be detected on antenatal ultrasound. Otherwise presents with scaphoid abdomen, dextrocardia and respiratory distress at birth.
Describe features of acondroplasia?
Autosomal dominant disorder of bone growth.
Presents at birth with short limbs, large head with flat midface, frontal bossing, lumbar lordosis and trident hand.
Prognosis excellent and IQ normal
Describe features of polydactyly and syndactyly
Poly - more than five fingers or toes on any limb.
Syn - webbed
Describe features of transient tachypnoea of the newborn
Respiratory distress caused by delayed reabsorption of fluid in lungs.
More common following C-sections.
CXR shows hyperinflated lungs and fluid in horizontal fissure.
Managed with supportive care and oxygen. usually settles within 1-2 days
