Journal of Research in Medical Sciences (Feb 2008)

First report of Griscelli syndrome from Afghan population in IRAN

  • Shirin Sayyahfar,
  • Abdollah Karimi,
  • Alireza Fahimzad,
  • Javad Ghorubi,
  • Atoosa Gharib,
  • Shahnaz Armin

Journal volume & issue
Vol. 13, no. 1
pp. 38 – 40

Abstract

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<ul> <li>A 4 month old Afghan male infant presented with partial albinism, hepatosplenomegaly and pancytopenia. Skin and hair shaft microscopic examination revealed large clumped melanosomes and Griscelli syndrome was diagnosed. Unless treated with bone marrow transplantation, it is a fatal disease in accelerated phase. Pediatricians should consider this syndrome in infants with abnormal light hair because early diagnosis could be life saving.</li> <li><strong>KEYWORDS</strong>: Griscelli syndrome, partial albinism, hemophagocytic lymphohistiocytosis</li> </ul>

Keywords