ABSTRACT
Wilson disease [WD] is a rare autosomal recessive disease. Our objective was to describe the diverse patterns, therapies, and outcomes of this disease. A retrospective study over two decades on WD patients in a tertiary care center in Saudi Arabia. Clinical and laboratory findings of 71 patients with WD were retrieved from their charts, referral notes and our hospital electronic records and were analyzed. The mean age and standard deviation was 16.8 [10.7] years and 56.5% were males. The main manifestations of WD were hepatic, neurological, and mixed in 39 [54.9%], 12 [16.9%], and 20 [28.2%] patients, respectively, and 11 [15.5%] were asymptomatic cases detected by family screening. A family history of WD was positive in 41 [57.7%] patients, and consanguinity of parents was found in 26 [36.6%] patients. The mean [SD] follow-up period was 92.2 [72.9] [range, 1-320] months. Ten [14.1%] patients died during follow up, while 45 [63.4%] and 16 [22.5%] were still on or lost from follow-up, respectively. The mean [SD] age at the end of follow-up was 25.3 [12] [range, 4-62] years. Hepatoma was discovered in 5 [7.0%] patients. Penicillamine therapy was used by 58 [81.7%] patients, while zinc and trientine were given to 32 [45.1%] and 11 [15.5%] patients, respectively. Sixteen [22.5%] patients underwent liver transplantation and one died [1.4%] on the waiting list. The liver condition remained stable or improved in 35 [49.3%], and the neurological status showed improvement in 11 [34.4%] of the 32 patients who had neurological involvement. This is the biggest cohort to be reported from the Middle East. WD presentation and outcome of WD are very diverse, and its diagnosis still depends on clinical, laboratory, and radiological evidence of abnormal copper metabolism. WD should be considered in patients of any age with obscure hepatic and/or neurological abnormalities.
ABSTRACT
Diffuse involvement of the gastrointestinal tract by graft versus host disease [GVHD] is a common complication of allogeneic hematopoietic stem cell transplant [HSCT]. Gastrointestinal GVHD usually presents 3 or more weeks after HSCT and is characterized by profuse diarrhea, anorexia, nausea, vomiting, abdominal pain and gastrointestinal bleeding. We report a case of a 23-year-old male who had undergone allogeneic HSCT and presented with bloody diarrhea on the 90th day post-HSCT. On the fourth day of admission, the patient passed per rectum a 27-cm long pinkish colored fleshy material recognized as a "colon cast". Sigmoidoscopy showed a congested and erythematous rectum with the remaining portion of the "colon cast" attached to the proximal part of the sigmoid colon. A biopsy from the rectal wall was suggestive of grade IV GVHD. The patient was treated with methylprednisolone, cyclosporin and mycophenolate mofetil, with a partial response [diarrhea and abdominal pain improved], but then he developed multiple other medical complications and died after 3 months