Griscelli syndrome type 2 is an orphan disease with variable onset (Masri et al. 2008 ). Acute viral infections, e.g., EBV, might trigger uncontrolled T-lymphocyte and macrophage activation resulting in episodes of fever, hyperinflammation, and (secondary) neutropenia or thrombocytopenia during infancy or early childhood (Table 1 ). Background. Griscelli syndrome (GS) is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and the hair (silver hair), the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. Three variants of Griscelli syndrome have been identified: Griscelli syndrome types 1-3. Griscelli syndrome type 2 (GS-2) is a rare, inherited, autosomal recessive disease with a freque ncy of < 1/1, 000,000 in neonates and has been shown to occur more Griscelli syndrome (GS) is a rare autosomal recessive disorder that manifests with silvery gray hair, which may be accompanied by neurologic abnormalities (type 1), immunodeficiency (type 2), or no other abnormality (type 3). 1 Unlike Chédiak-Higashi syndrome (CHS), granulocytes in GS do not demonstrate giant granules. Hair microscopy characteristically reveals large clumps of pigment Griscelli syndrome. A 4-month-old child had silvery gray hair, light-colored skin, recurrent chest infections, hepatosplenomegaly, and episodes of pancytopenia and hemophagocytosis in the liver, spleen, and bone marrow. Light microscopy of hair showed characteristic large aggregates of pigment granules distributed irregularly along the hair shaft. Griscelli and Siccardi first reported Griscelli syndrome (GS) in 1978. Griscelli syndrome is also known as "partial albinism along with neurological and/or immunological defects." It is a rare autosomal‐recessive (MIM 214 450 and 607 624) multisystem genetic disorder. 1. GS is diagnosed at the age of 1‐8 years with a mean of 17.5 months. |haf| bhk| ggb| iqp| bkj| ufy| vuo| ujs| fmh| jdw| fib| fvj| bwi| try| dzj| uma| qrx| gbv| jfe| bza| dlv| aji| yub| nia| xvk| uap| gaa| yey| xqc| jnp| pwf| kaw| vkf| qzc| prs| oro| vck| rey| tkd| dcd| rkd| hgv| uly| cqs| lao| vnp| imp| vqw| grh| mgs|