Wilson's disease among children at King Hussein Medical Center

Abstract EN

Objectives : to describe the demographic characteristics and clinical presentation of 37 patients with Wilson's disease followed up at the Pediatric Gastroenterology Clinic.

Methods : A specially designed data collection form was used to collect the relevant data; Medical history and a thorough clinical examination for patients who were diagnosed with Wilson's disease during the period between February 2000 and October 2010 at King Hussein Medical Center, Amman, Jordan was done.

Laboratory investigations include ceruloplasmin level, liver enzymes, albumin, prothrombin time, partial thromboplastin time, international normalized ratio, complete blood count, urine analysis, abdominal ultrasound and liver biopsy.

Simple descriptive statistics (frequency and percentage) were used to describe the study variables.

Results : A total of 37 patients diagnosed as Wilson's disease with age ranges between two and 13.5 years were included in this descriptive review.

Out of 37 patients, 19 (51 %) were males and 18 (49 %) were females.

Patients with affected siblings were 29 (78 %).

Central nervous system involvement was found among 9 (24.3 %) patients.

The commonest presenting symptoms were jaundice (n = 16, 43 %), abdominal distension (n = 13, 35 %), fatigue and delayed school performance (n = 12, 32.4 %).

The most common clinical findings were hepatomegaly (n = 26, 70 %), jaundice (n = 16, 43 %), splenomegaly (n = 14, 37.8 %), Kayser-Fleischer ring (n = 11, 29.7 %), and lower limb edema (n = 11, 29.7 %) respectively.

Low ceruloplasmin level was found in 34 (92 %) patients, high liver enzymes in 23 (62 %) patients, hemolytic anemia in 13 (35 %) patients successively.

Twenty-four hour urine collection average copper post D-penicillamine challenging test was above 230μg / dl.

The most common ultrasound findings were hepatomegaly, abnormal echogenecity, splenomegaly and ascitis.

Liver biopsies commonly showed liver fibrosis, however fatty liver changes, hepatosteatosis and liver cirrhosis were the least common finding.

Conclusion : family screening is needed once a child in the family is diagnosed.

Full investigations to rule out Wilson's disease should be performed in any patient with unexplained elevation of liver enzymes, hepatomegaly, hemolytic anemia, jaundice or neurological / behavioral disturbances.