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CASE REPORT
Year : 2016  |  Volume : 59  |  Issue : 1  |  Page : 113-116

Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy


1 Department of Pathology, Rangaraya Medical College, Kakinada, Andhra Pradesh, India
2 Department of Paediatrics, GSL Medical College, Rajahmundry, Andhra Pradesh, India

Correspondence Address:
R Rajyalakshmi
H.No. 2-4-10, Bhanugudi Junction, Sri Nagar, Kakinada - 533 003, Andhra Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0377-4929.178230

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Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1), RAB27A (GS2), and MLPH (GS3) genes, characterized by a common feature, partial albinism. The common variant of three, GS type 2, in addition, shows primary immunodeficiency which leads to recurrent infections and hemophagocytic lymphohistiocytosis. We, herewith, describe a case of GS type 2, in a 4-year-old male child who presented with chronic and recurrent fever, lymphadenopathy, hepatosplenomegaly, and secondary neurological deterioration; highlighting the cytological and histopathological features of lymph nodes. Hair shaft examination of the child confirmed the diagnosis.


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