Griscelli syndrome: Rare neonatal syndrome of recurrent hemophagocytosis

M. Kumar, K. Sackey, F. Schmalstieg, Z. Trizna, M. T. Elghetany, B. P. Alter

Research output: Contribution to journalArticlepeer-review

Abstract

Griscelli syndrome (GS) is a rare inherited disease characterized by immunodeficiency and partial albinism. The microscopic findings of the skin and hair are highly suggestive of the disease. The GS locus colocalizes on chromosome 15q21 with the myosin-Va gene (MYO5a), and mutations have been identified in few patients. We describe a 2-month-old Hispanic girl with severe pancytopenia secondary to hemophagocytosis. Even though a mutation at the Griscelli locus had not been identified, her clinical features and outcome were typical of GS. The purpose of this article is to alert physicians to the association between GS and hemophagocytosis. We suggest that GS should be considered in infants with hemophagocytosis because the features of partial albinism can be subtle. The relevant literature is summarized.

Original languageEnglish (US)
Pages (from-to)464-468
Number of pages5
JournalJournal of Pediatric Hematology/Oncology
Volume23
Issue number7
DOIs
StatePublished - 2001
Externally publishedYes

Keywords

  • Griscelli
  • Hemophagocytosis
  • Immune deficiency
  • Neonate
  • Pancytopenia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Oncology
  • Hematology

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