Thursday, June 9, 2011


You meet this patient with a rare autosomal recessive disease. She has a history of recurrent severe bacterial infections including pyoderma, skin abscesses, and ulcerations. They are often caused by Staphylococcus, Group A Streptococcus, and Pneumococcus. Her dentist follows her for gingivitis, oral ulcerations, and periodontal disease. She has had a few episodes of respiratory tract infections as well. On review of systems, the patient reports bruising easily and abnormal musocal bleeding.

On exam, you note hepatosplenomegaly and lymphadenopathy. Unfortunately, as she gets older, her exam may show weakness, sensory deficits, peripheral neuropathy, ataxia, tremors, cranial nerve palsies, and seizures. Laboratory tests show neutropenia. Blood smear is shown below.

Challenge: What is this hyphenated diagnosis?

Both images shown under Fair Use.

1 comment:

Craig Chen said...


This is Chediak-Higashi syndrome. The picture shows partial oculocutaneous albinism; most patients have fair skin and sparse light blond, gray, or white hair often with a metallic sheen. The blood smear shows pathognomonic giant azurophilic cytoplasmic granules in leukocytes and platelets. The treatment is hematopoietic stem cell transplant.

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