The Study of the Initial Presentations of Wilson Disease at Diagonosis / 대한소아소화기영양학회지

PURPOSE: To review the clinical and laboratory features of patients with Wilson disease at diagnosis. METHODS: In this retrospective study, records of all 20 patients, who were diagnosed as having Wilson disease at the Paik hospital in Busan from 1990 to 2000, were reviewed. RESULTS: Out of 20 patients, 12 pateints (60%) have hepatic presentation alone, 2 patients (10%) have neurologic presentation, 4 patients (20%) have hepatic and neuropsychiatric presentation, and one patient (5%) has hematologic presentation at diagnosis. One patient (5%) has neither symptom nor laboratory finding of Wilson disease except very low serum ceruloplasmin level and positive family history. Family screening test revealed 3 cases of Wilson disease. 12 patients were revealed to be combined with liver cirrhosis at diagnosis. CONCLUSION: Early diagnosis and treatment is very important in patients with Wilson disease. Children or adolescents who manifest symptoms of hepatitis, who has prolonged elevation of liver enzymes, and has family history of hapatitis of unknown origin, with mild hematologic or urinary abnormalities must be suspected to have Wilson disease. Also, in adolescents with extrapyramidal symptoms or other neuropsychiatric symptoms, liver function test should be done.

Subcutaneous Panniculitic T-cell Lymphoma: A Case Report / 대한소아혈액종양학회지

Subcutaneous panniculitic T-cell lymphoma is one of very rare diseases in children, which is presumably derived from various immunocompetent T-cell system components. It is a distinctive clinicopathologic entity, different from other lymphoma group. We report a case of subcutaneous panniculitic T-cell lymphoma in a 14-year-old boy with the complaints of fever and multiple subcutaneous nodule. A brief review of related literatures was also made.