Asmaa Hmaid Esraa Shbair Case study Prepared by: Asmaa Hmaid Esraa Shbair Shaza Morr Yaqeen Ahmad Maha Abu Hayyeh Presented to: Miss.Ikram M. Hmaid Mr.Naser Abu. Sha’ban

Case Detalis 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 level was 5mg/dl. She subsequently died of fulminant live failure. At post-mortem her liver copper concentration was found to be grossly increased.

Lab Finding values Tests .5mg/dl Serum bilirubin: Total, Direct (mg/dL) 6.3g/dl Serum protein (mg/dL) 1.1g/dl Serum albumin (mg/dL) 176U/L Serum alanine transaminase (IU/L) 254U/L Serum aspartate transaminase (IU/L) 258U/L Serum alkaline phosphatase (IU/L) 49U/L Serum gamma-glutamyltransferase (IU/L)

*What is the probable diagnosis?? *What kind of investigation should be carried out for this girl?? Questions

Discussion Case 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 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 muscle .stiffness -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

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