Coincidence of Niemann-Pick disease and beta-thalassemia; a case report

Niemann-Pick disease and beta-thalassemia are distinct conditions with specific clinical and morphological manifestations. Beta-thalassemia is the most common inherited blood disorder in Iran whereas Niemann-Pick disease, a lysosomal storage disorder, is rarely found in this country. This 5-month old girl, a known case of beta-thalassemia major was hospitalized for failure to thrive and hepathosplenomegaly. Because of unusual splenomegaly and liver enzymes disturbance that was not compatible with the first diagnosis, further evaluation revealed cherry red spot and high lipid profile suggestive of lysosomal storage disease. Foamy cells in the bone marrow and low activity of the specific enzyme led to the diagnosis of Niemann-Pick disease. This unique case illustrates the importance of looking for a second pathological condition in a patient whose clinical profile does not support the first diagnosis in its entirety

Giant cell hepatitis with autoimmune hemolytic anemia; a case report

Giant cell hepatitis [GCH] is a histological finding in infants with neonatal cholestasis and rarely can be seen after this period. Autoimmune hemolytic anemia [A1HA] which is characterized by massive and acute red blood cell destruction due to antibody production, responds favorably to corticosteroid therapy. The combination of GCH and AIHA is a rare distinct entity that carries poor response to immunosuppressive therapy and often progresses to fatal liver disease. A 13-month-old boy was referred to us with anemia and icterus. Investigations confirmed the diagnosis of GCH which was associated with AIHA. Treatment with steroids and azathioprin failed. We changed to cyclosporine. The anemia improved by steroid and IVIG at the beginning, but few months later anemia relapsed. Finally he recovered with rituximab and now he is 6 years old in suitable condition. The association of AIHA with GCH is an uncommon condition that can be life threatening. Most patients initially respond to immunosuppressive agents, but usually recur and have an aggressive course. In this case liver disease responded to steroid and immunosuppressive therapy, but the AIHA was refractory to immunosuppressive therapy. Rituximab is used in treatment of this condition, and this treatment was well tolerated and resulted in dramatic sustained improvement of anemia

Report of six cases of Chediak-Higashi syndrome with regard to clinical and laboratory findings

Chediak Higashi Syndrome [CHS] is a rare, primary immunodeficiency disorder with an autosomal recessive [AR] inheritance and characterized by recurrent infection, partial occulocutaneous albinism and an accelerated phase. In this report we describe clinical and laboratory findings from 6 CHS patients. Clinical and laboratory information of six patients who were referred to our center during the last 20 years [from 1983 - 2003] were reviewed. Onset age of disease was between 3 months to 10 years. All patients had history of consanguineous parents and two patients were siblings. All patients had oculocutaneous albinism, nystagmus, recurrent infections which included upper and lower respiratory tract [U and LRT] infections, stomatitis, thrush, and skin abscesses and hepatitis. In laboratory findings, all patients had neutropenia and normal immunoglobulins and normal CD3, CD4, and CD8, CD19 Lymphocyte by flowcytometry and three of the four patients had chemotatic defect. Five patients certainly had giant granule in bone marrow neutrophil and in one patient it was equiovocal. Three patients had an accelerated phase, and for one patient bone marrow transplantation was done that was tolerated well and had been well after 7 years. We emphasize the need for early diagnosis on basis of characteristic facies and diagnostic laboratory examinations and early bone marrow transplantation [BMT] in patients