Congenital Malformations Flashcards
Pathology of biliary atresia (2)
destruction/absence of extrahepatic biliary tree>bilirubin can’t leave liver>accumulation+toxicity>liver failure
can also be due to obstruction from inflammation due to viral illness or idiopathic.
Presentation of biliary atresia (8)
presents around wk3 of life
neonatal jaundice
hepatomegaly in all
splenomegaly in 60%
conjugated bilirubinaemia
dark urine/pale stools
low vit K>bleeding
FTT due to malabsorption and liver failure
Dx of biliary atresia (3)
liver USS
liver biopsy
intraoperative cholangiography
Rx of Biliary atresia
Kasai procedure-do w/i 1st 6wks of life or bile duct will sclerose>liver transplant
Features of Meckel’s diverticulum (4)
incomplete obliteration of vitelline duct
small intestine, most common GI malformation
2 inches long, 2 feet from ileo-coecal valve, 2% of population
contains ectopic gastric mucosa which can secrete acid>ulceration
Presentation of Meckel’s diverticulum
most are asymptomatic
main presentation is w. painless, severe rectal bleeding due to peptic ulceration
(think like PUD in children, sometimes abdo pain, malaena)
Dx of Meckel’s diverticulum
Technetium scan
Rx of Meckel’s diverticulum
surgery
Pathology of cleft lip/palate
due to failure of fusion of maxillary and pre-maxillary processes at 5wks.
Causes of cleft lip/palate (5)
benzos
antiepileptics
rubella
other malformations: patau’s
Genes
Features of oesophageal atresia (3)
blind-ending oesophagus
may occur w. tracheo-oesophageal fistula
assoc. w. trisomies
Presentation of oesophageal atresia (4)
antenatally:
-polyhydramnios
postnatally:
- frothing/overflowing of saliva
- difficulty feeding
- aspiration
Ix for oesophageal atresia
pass NG tube, if it gets stuck, do XR
Mx of oesophageal atresia
surgery
Features of volvulus and midgut rotation (2)
disruption of normal embryological development of bowel
more common in boys
Presentation of volvulus and midgut rotation (4)
acutely:
- 1st yr of life
- sudden onset billous vomitting
- diffuse abdo pain out of proportion to physical exam
chronically:
-intermittent pain and malabsorption
Mx of volvulus and midgut roration (3)
drip and suck
can try colonoscopy and surgery
Pathology and associations of congenital diaphragmatic hernias (2)
defect in diaphragm>herniation of bowel into chest>pulmonary hypoplasia>pulmonary HTN/resp distress
assoc. w. chromosome deletions/Edward’s
Dx of congenital diaphragmatic hernias
antenatal USS
Mx of congenital diaphragmatic hernias
surgery
Features and Mx of gastroschisis (4)
peri-umbilical defect w. evisceration of abdominal contents
at birth can have fluid, electrolyte and heat loss
not assoc. w. chromosomal defects
surgery has good outcome
Features and Dx of exomphalos (5)
ventral defect in umbilical ring leading to herniation of abdominal contents covered in peritoneum
common, 15% assoc. w. chromosomal abnormalities
small ones may only contain Meckel’s
large ones may contain liver, stomach and bladder
many picked up on antenatal USS
Features of imperforate anus (3)
may have recto-vaginal/vesico-rectal fistula
cloaca: when rectum, bladder and vagina are all connected
in down’s, may have imperforate anus w/o fistula
Features of umbilical hernias (2)
V. common
tend to resolve by 12mo/usually no Rx needed
