CYCLOSPORINE THERAPY FOR AUTOIMMUNE HEPATITIS IN A CHILD WITH DOWN’S SYNDROME

A Srivastava, JD Butzner

Division of Gastroenterology, Department of Paediatrics, Alberta, Children's Hospital, University of Calgary, Calgary, Alberta

Down's syndrome (DS) is associated with various autoimmune conditions which reflects an unbalanced immune control in these patients. We describe a case of DS with multiple autoimmune disorders including type I autoimmune hepatitis (AIH), hypothyroidism, alopecia aerata and type I diabetes.
A thirteen year and 3 months old male with DS, first developed lymphocytic thyroiditis at 3 yr, followed by alopecia aerata at 9 yr, insulin dependent type I diabetes at 13 yr and 2 mo and type I AIH at 13 yr and 3 months of age. His initial presentation was with arthralgia and raised transaminases, detected during investigations for his poorly controlled diabetes (table). Examination showed features of DS along with a firm hepatomegaly (span 13cm) and no other stigmata of liver disease. He had a positive antinuclear antibody (ANA) 1:320 and antismooth muscle antibody 1:320. Evaluation for other infectious and non-infectious liver diseases was negative. Liver biopsy demonstrated chronic hepatitis with early fibrosis. In view of his poorly controlled diabetes, steroids were not given and treatment with cyclosporine (8mg/kg/d) was initiated. Azathioprine (1.75mg/kg/d) was added 6 weeks later. His response to therapy is demonstrated (table). An attempt to wean cyclosporine after four and half months of therapy was unsuccessful. He displayed no evidence of renal toxicity and his alopecia also responded to cyclosporine therapy. A very slow taper of cyclosporine is being attempted.

Primary treatment with cyclosporine was successful and safe in management of a patient with type I autoimmune hepatitis and Down's syndrome.