title: Griscelli syndrome.
abstract: An eight month old male infant presented with recurrent infections and partial albinism. Initially a possibility of Chediak Higashi syndrome (CHS) was considered, but a negative investigative work up prompted us to look for an alternate diagnosis. A literature search revealed that Griscelli syndrome (GS) has overlapping symptoms and signs. The findings in skin and hair biopsies in Griscelli syndrome are distinctive.
authors.affiliation: Division of Pediatric Hematology and Oncology, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Sanjeev
authors.initials: S
authors.lastname: Rath
authors.forename: Vivek
authors.initials: V
authors.lastname: Jain
authors.forename: R K
authors.initials: RK
authors.lastname: Marwaha
authors.forename: Amita
authors.initials: A
authors.lastname: Trehan
authors.forename: L S
authors.initials: LS
authors.lastname: Rajesh
authors.forename: Vijay
authors.initials: V
authors.lastname: Kumar
mesh_terms: D002609:Chediak-Higashi Syndrome / Q000175:diagnosis; D003937:Diagnosis, Differential; D006529:Hepatomegaly / Q000235:genetics; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics; D007223:Infant; D008297:Male; D010198:Pancytopenia / Q000235:genetics; D016116:Piebaldism / Q000235:genetics*; D013163:Splenomegaly / Q000235:genetics