MRI IMAGING IN GRISCELLI SYNDROME
Dr. Tushar Kalekar MD and Dr. Gopal Khadse MD
Griscelli syndrome was first described by Griscelli and Siccardiin in 1978 at Paris1. It is a rare autosomal recessive disorder resulting in pigmentary dilution of the skin and hair, presence of large clumps of pigment in hair shafts and accumulation of melanosomes in melanocytes. It results in silver-grey hair along with variable cellular immunodeficiency or severe neurological impairment or both. Three types of Griscelli syndromes have been presented so far. All types of Griscellies syndrome reveal large-irregularly distributed melanin aggregates in the hair under light microscope. In Type 1, there is severe neurologic impairment but immune deficiency and hemophagocytosis is usually absent. In Type 2, patients have precise immune deficiency and hemophagocytosis, neurologic impairment is not primarily seen but due to the lymphocytic infiltration of brain, it may be seen as secondary manifestation. In type 3, there are no neurological and immunological impairment without any hemophagocytosis. In most cases diagnosis occurs between the ages of 4 months to 7 years.
Keywords: Griscelli syndrome, pigmentary dilution, CNS involvement.
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