Pediatric obstructive biliary disorders (Brandau and Tiemen) Flashcards
what are the criteria that make something non-physiologic neonatal jaundice
if it develops before 36 hours of age
persists beyond 10 days
or if direct bili is >20% of total bili
what is breast milk jaundice
approximately 2% of breast fed infants will have prolonged unconjugated hyperbilirubinemia with levels ranging from 10-15 mg/dL
how does a kid with congenital rubella syndrome present
heart disease
microcephaly
petechiae and purpura
eye anomalies including cataracts, glaucoma, strabismus, nystagmus, microphthalmia, iris dysplasia
what is the presentation of early congenital syphilis
before 2 years of age
Prematurity and intrauterine growth retardation
hepatosplenomegaly
nasal chondritis (snuffles)
skin rash
osteochondritis
neuro symptoms and signs including hydrocephalus, cranial nerve palsies
what is the presentation of late congenital syphilis
presentation after 2 years of age
craniofacial malformation
dental abnormalities
interstitial keratitis
deafness
neurosyphilis
paroxysmal cold haemoglobinuria
most common cause of posterior uveitis
toxoplasmosis
Cats!!
causes intrauterine infection
brain damage cataracts jaundice enlarged liver kidney damage
if the child is given milk, unmetabolized milk sugars build up and damage the liver, eyes, kidneys and brain
Galactosemia
metabolic cause of neonatal cholestasis
Diarrhea and bloody stools vomiting poor weight gain extreme sleepiness irritability "cabbage" like odor to skin or urine
enlarged liver
jaundice
bleed or bruise easily
swelling of legs and abdomen
metabolic cause of neonatal cholestasis
Tyrosinemia 1
what are genetic causes of neonatal cholestasis
CF
trisomy 13- Patau
Trisomy 18- Edwards
Trisomy 21- Down
Turner syndrome
Alpha 1 antitrypsin deficiency
low posterior hairline
webbed neck and extra skin
swollen hands
swollen feet
discolored spots on skin
wide set nipples
Turner syndrome
what are endocrine causes of neonatal cholestasis
hypothryoidism
hypopituitarism
jaundice
poor feeding
hypotonia
large tongue (macroglossia)
large fontanelles delayed closure (large and soft)***
course facial features
mental retardation
short stature
congenital hypothyroidism
how is the diagnosis of congenital hypothyroidism made?
newborn screen for hypothyroidism:
T49 mU/L and free T4 is <0.6 ng/dL the diagnosis of primary CH is confirmed
you can also do
- radionuclide uptake and scan
- ultrasonography
- serum thyroglobulin
- maternal antithyroid antibodies
- urinary iodine
treat with starting on thyroid meds!
autosomal dominant
chlestatic liver disease
pulmonary valvar stenosis or atresia
vasuclopathy
renal disease
alagille syndrome
what is the definition of colestasis
the systemic retention of biliary constituents as a result of failure of formation and or the flow of bile
what is elevated in intrahepatic cholestasis
failure of formation of bile at the hepatocyte level
elevated transaminases and unconjugated bili
can also be obstructive process confined to intrahepatic bile ducts
what is elevated in extrahepatic cholestasis
obstructive process of the extrahepatic bile ducts
elevated AP, GGTP, conjugated bili
when must neonatal obstructive jaundice be considered ? and what is the most common cause
must be considered in any newborn jaundice presenting or persisting after 14 days!
elevated conjugated bilirubin, AP, GGTP
yellow stool = bili is not getting into the stool
MC cause is biliary atresia
what is biliary atresia
more common in males or females?
post-natal destruction of EH bile ducts with resultant injury and fibrosis of IH bile ducts
unknown etiology
30% of neo-natal cholestatic jaundice
F>M
at birth they are normal, but then a few weeks after they have injury to their EH bile ducts
MC cause of hepatic death and need for transplant of liver in children
how do you diagnose biliary atresia
labs
US- looking for choledocal cysts as well, but you won’t see anything on US for biliary atresia
MRC
liver biopsy- cholestasis in middle of canalliculi
how do you treat biliary atresia
treated with porto-enterostomy (Kasai procedure- attaching portion of small intestine to the liver)
best results if done at <60 days of age
if this fails then you must get a liver transplant
these are a less common cause of pediatric obstructive jaundice (2-4%)
5 types
60-70% are found at age
Choledochal cysts
Type 1 –> fill up most of common bile duct
Type II- diverticulum off common bile duct- easiest to treat
Type III- dilatation of gallbladder
Type IV- extrahepatic duct and isolated ones in the intrahepatic system
Type V- Caroli’s disease - can’t be treated except with liver transplant
