Griscelli syndrome - a case report.
Griscelli syndrome is a rare autosomal recessive disorder characterized by partial albinism with variable immunodeficiency. Silvery gray hair with large, clumped melanosomes on microscopy of hair shafts are diagnostic. The commonest complication leading to mortality includes lymphohistiocytic proliferation in various organs, including the brain. We present a child with classic clinical features and confirmatory findings of clumped melanosomes on microscopy of hair shaft.
Manglani
Mamta
M
Division of Pediatric Hematology- Oncology, Department of Pediatrics, L.T.M.M. College and General Hospital, Sion, Mumbai, India.
Adhvaryu
Kaitav
K
Seth
Bageshree
B
D017074:Common Variable Immunodeficiency / Q000175:diagnosis; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D016116:Piebaldism / Q000276:immunology*; D013577:Syndrome