Sotelo-Cruz N, Covarrubias-Espinoza G, Gómez-Rivera R, García MJ

Language: Spanish
References: 14
Page: 113-118
PDF size: 134.33 Kb.

ABSTRACT

Introduction. The Chediak-Higashi syndrome (CHS) is a rare childhood autosomal recessive disorder; the patients showed, hypopigmentation of the skipossible identify some characteristic granules in the neutrophil cells.
Clinical case. Female infant with diarrhea, fever, otitis, (silvery hair), hepatosplenomegaly and peripheral smear blood with giant granules in neutrophils and hemophagocytosis in bone marrow; the diagnostic done was a CHS in an accelerated phase. She received treatment with intravenous immunoglobulin and filgastrim but she died.
Conclusion. The clinical features described and the changes in neutrophil cells are important for the diagnosis, the infections induced the accelerated phase; the intravenous immunoglobulin are used in the treatment. These patients had a poor prognosis.

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