Chediak-higashi syndrome

Chediak Higashi Syndrome is a rare inherited autosomal recessive disorder of immune system. Susceptibility to infection due to phagocyte dysfunction ranges from recurrent skin infection to over whelming fatal systemic infection. A five years old male child was admitted on 31st March 2006 with the complaints of pallor, fever & ear discharge for 6 month. He was treated by several medications but had temporary relief. The ear discharge was bilateral, foul smelling and of yellowish color. Past history was significant with episodes of abscess involving the different parts of body. Myeloid precursors shows giant, purple stained granules mainly in metamyelocytes, band cells and mature neutrophils

Acquired aplastic anemia: treatment in a developing country.

Objective: The aim of this study was to evaluate the clinical presentation of aplastic anemia as well as to assess the efficacy of Cyclosporin -A in patients with aplastic anemia. Methodology: This is a hospital based interventional study. During the three year study period, 44 children were enrolled. Mean age was 9.3 years and there was a male predominance. Results: Most common clinical presentation was anemia and bleeding. Four children died before therapy was started. Cyclosporin-A was started in 40 patients. Eleven patients died before completion of therapy and three patients were lost to follow-up. Out of 26 patients who completed therapy, 11 were cured and 9 were responders while 6 were non responders according to the selected criteria. Conclusion: In developing third world countries like Pakistan majority of the patients with aplastic anemia cannot afford BMT. Alternative modalities of treatment must therefore be looked into. Cyclosporin-A seems to be a reasonable therapeutic option in such cases

CHEDIAK-HIGASHI SYNDROME

ABSTRACT Chediak Higashi Syndrome is a rare inherited autosomal recessive disorder of immune system. Susceptibility to infection due to phagocyte dysfunction ranges from recurrent skin infection to over whelming fatal systemic infection. A five years old male child was admitted on 31 st March 2006 with the complaints of pallor, fever & ear discharge for 6 month. He was treated by several medications but had temporary relief. The ear discharge was bilateral, foul smelling and of yellowish color. Past history was significant with episodes of abscess involving the different parts of body. Myeloid precursors shows giant, purple stained granules mainly in metamyelocytes, band cells and mature neutrophils