Asmaa Hmaid Esraa Shbair

Shaza Morr Yaqeen Ahmad

Maha Abu Hayyeh

Miss.Ikram M. Hmaid
Mr.Naser Abu. Sha’ban
A 15-year –old girl presented with edema, abdominal
pain ,and diarrhea for 3 days. She become jaundiced
and a presumptive diagnosis of infective hepatitis
was
made ,but serological tests were negative.
Her eyes were examined revealed Kayser-Fleischer
rings and sunflower cataracts. Her serum
caeruloplsmin leveldied
She subsequently wasof5mg/dl.
fulminant live failure. At
post-mortem her liver copper concentration was
found to be grossly increased.
 Lab Finding
Tests values
Serum bilirubin: Total, Direct .5mg/dl
(mg/dL)

Serum protein (mg/dL) 6.3g/dl

Serum albumin (mg/dL) 1.1g/dl

Serum alanine transaminase (IU/L) 176U/L

Serum aspartate transaminase 254U/L

(IU/L)

Serum alkaline phosphatase (IU/L) 258U/L

Serum gamma-glutamyltransferase 49U/L

(IU/L)
*What is the probable diagnosis??

*What kind of investigation should

be carried out for this girl??

Questions
High liver copper, indicates that the patient
died of Wilsons disease.

Clinical manifestations are caused by copper

toxicity and primarily involve the liver and
the brain.
 Tests and diagnosis
Blood and urine tests. the doctor may recommend
blood tests to monitor liver function and check the
copper levels in blood. The doctor also may want to
measure the amount of copper excreted in urine during
a 24-hour time period
Eye exam. Using a microscope with a
high-intensity light source (slit lamp), an
ophthalmologist checks your eyes for
golden-brown discoloring (Kayser-
Fleischer rings). The abnormal
appearance is caused by deposits of
excess copper in the eyes. Wilson's
disease has also been associated with a
type of cataract, called a sunflower
cataract, that can be seen on an eye
exam
Removing a sample of liver tissue for testing. In a
procedure called a liver biopsy, your doctor inserts a
thin needle through your skin and into your liver. Your
doctor draws out a small sample of liver tissue and
sends it to a laboratory to test for excess copper.

Genetic testing. A blood test can identify the genetic

mutations that cause Wilson's disease. Knowing the
Wilson's disease mutations in your family allows
doctors to screen siblings and begin treatment before
debilitating symptoms arise
 Wilson's disease
*Wilson's disease is a rare inherited disorder that causes too
much copper to accumulate in your liver, brain and other
vital organs. Symptoms typically begin between the ages of
12 and 23.
*Copper plays a key role in the development of healthy
nerves, bones, collagen and the skin pigment melanin.
Normally, copper is absorbed from your food, and any excess
is excreted through bile.
*But in people with Wilson's disease, copper isn't
eliminated properly and instead accumulates, possibly to a
life-threatening level. When diagnosed early, Wilson's
disease is treatable, and many people with the disorder
live normal lives.
 Causes
Wilson's disease is inherited
as an autosomal recessive
trait, which means that to
develop the disease you
must inherit two copies of
the defective gene.

The condition is due to

mutations in the Wilson
disease protein
(ATP7B)gene.
 Symptoms

Neurological symptoms result

from copper buildup in the brain
and include:
-memory impairment.
-vision impairment.
-Uncontrolled movements or
stiffness.muscle
-Shacking.
Symptoms caused by accumulations
in liver or kidneys include:

-kidney dysfunction
-jaundice (caused by liver failure)
-Fatigue
-abdominal pain
-cirrhosis of the liver.
 Treatments

Chelating agents

gene repair

Liver transplantation