So let’s start to look at some
of these problems one at a time
and try and identify
what could be the cause
of a child’s conjugated
Here’s an example.
A neonate is born and has persistent
and you notice syndromic abnormal facies.
What should you suspect?
The answer is Alagille syndrome.
Let’s look at Alagilles a
little bit more carefully.
The signs and symptoms of
Alagilles are generally related
to a number of different
organs that can be involved.
First, we will see cholestasis
in these children.
They will have a conjugated
And that cholestasis may result
in liver problems as well.
Frequently, these children
have congenital heart disease,
tetralogy of Fallot.
So a murmur is often appreciated.
And lastly, these children can develop
posterior embryo toxin in the eye
which may cause
problems down the road
and is something that you
have to watch out for.
So here are some examples
of some patients with
consistent with Alagilles.
You can notice triangular facies,
a large prominent forehead,
a wide nasal bridge, a small
pointed chin and deep set eyes.
These are all findings consistent
with the Alagille syndrome.
This disease is autosomal dominant.
It’s a defect in the short arm
of chromosome 20 on 20p12.
And they usually have
de novo mutations,
that is to say the parent doesn’t have
Alagilles this is a new mutation.
But absolutely, you want to
get a family history as well.
What you’ll find on these patients
if you were to biopsy them
is a paucity of intralobar bile ducts
including hepatic development
leading to cholestasis.
You can see that
around the bile ducts,
we have some inflammation
here and some problems.
So let’s look at how we would
make a definitive diagnosis.
Typically in these children, we need to
see three of five physical features.
We need to see evidence of cholestasis.
And then we’ll usually end up doing
a liver biopsy in these children.
For patients with mild disease, we’ll
treat them with ursodeoxycholic acid.
This helps facilitate bile flow
through the abnormal biliary tract
and allows the liver to
not be so backed up.
Remember that patients with failure
may develop pruritis or itching
and it can be very severe and generally
we’ll treat that symptomatically
with an antihistamine like
diphenhydramine or Benadryl.
For patients with severe disease, they
often proceed to liver transplant.
Remember, that in patients
with this problem,
they’re going to have a decrease of
ability to absorb fat-soluble vitamins.
These children require
of the fat-soluble vitamins, A, D, E and K,
and they also will often
get zinc as well.