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Case 264 - Discussion

Uploaded: 2012-06-06, Updated: 2012-06-06

 

Chediak-Higashi Syndrome

  • AR, CHS1 mutation, failure of phagolysosome formation

  • Recurrent pyogenic infections due to neutropenia and defective chemotaxis

  • Bleeding disorders due to deficient platelet dense granules

  • Albinism, nerve defects

  • Accelerated phase: seen in 80% of cases, hemophagocytic lymphohistiocytosis

  • ↑ Risk of lymphoma and leukemia

  • Neutrophil inclusions: large, well-defined, round to irregular, blue to green-gray,1-4um,  ~10/cell

  • Inclusion content: 1˚ and 2˚ granule materials (MPO+, SPE+, AP+)