Title of article :
Griscelli Syndrome Type 2; A Pediatric Case with Immunodeficiency
Author/Authors :
Tabatabaie, Parviz Department of Pediatric Infectious Disease, Children’s Medical Center - School of Medicine - Medical Sciences/University of Tehran, Tehran , Mahjoub, Fatemeh Department of Pathology - Children’s Medical Center - School of Medicine - Medical Sciences/ University of Tehran, Tehran , Cheraghi, Taher Department of Allergy and Clinical Immunology - Children’s Medical Center - School of Medicine - Medical Sciences/University of Tehran, Tehran , Parvaneh, Nima Department of Pediatrics - Children’s Medical Center - School of Medicine - Medical Sciences/University of Tehran, Tehran
Abstract :
A 3.5 month-old girl was admitted with silvery gray hair, light colored skin, recurrent
diarrhea, chest infections, hepatosplenomegaly, episodes of pancytopenia, and
hemophagocytosis in the bone marrow. Light microscopy of hair showed characteristic large
and irregular clumps of melanin in the middle of hair shaft. Peripheral blood smear
examination did not show giant granules in granulocytes. On the basis of these clinical and
laboratory findings, Griscelli syndrome was diagnosed. The child succumbed to infection
during an accelerated phase of the disease.
Keywords :
Griscelli Syndrome , Immunodeficiency , Phagocyte Disorders
Journal title :
Astroparticle Physics
