Griscelli syndrome: a case report.
A 10-year-old boy presented with partial albinism and typical clinical features of a macrophage activation syndrome (hepatosplenomegaly, fever, and pancytopenia), suggesting the diagnosis of Griscelli syndrome. The diagnosis was confirmed by light microscopic evaluation of hair that showed characteristic large aggregates of pigment granules irregularly distributed along the hair shaft. Immunosuppressive therapy controlled his macrophage activation syndrome successfully. Since early diagnosis is life saving and simple methods confirm the diagnosis, finding of partial albinism in children should alert clinicians to consider Griscelli syndrome.
Mehdizadeh
Mahshid
M
Department of Pediatric Hematology and Oncology, Shaheed Beheshti Medical University, Tehran, Iran. mahshid mehdizadeh@yahoo.com
Zamani
Gholamreza
G
D000305:Adrenal Cortex Hormones / Q000627:therapeutic use*; D000666:Amphotericin B / Q000627:therapeutic use; D001803:Blood Transfusion; D002648:Child; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use; D006529:Hepatomegaly / Q000175:diagnosis / Q000188:drug therapy; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D008297:Male; D010198:Pancytopenia / Q000175:diagnosis / Q000188:drug therapy; D016116:Piebaldism / Q000175:diagnosis* / Q000188:drug therapy; D013163:Splenomegaly / Q000175:diagnosis / Q000188:drug therapy; D013577:Syndrome