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.
