title: An Indian boy with griscelli syndrome type 2: case report and review of literature.
abstract: Griscelli syndrome 2 is a rare autosomal recessive disorder of pigmentary dilution of hair, skin, splenohepatomegaly, pancytopenia, immune and neurologic dysfunction. Clinical course is characterized by recurrent infection triggered by uncontrolled T-lymphocyte and macrophage activation, called hemophagocytic syndrome. Since the primary presentation is with depigmented hair, we attempt to highlight diagnostic difficulties in such cases in developing countries like ours where pigmentary changes in hair and skin are commonly attributed to severe malnutrition. We also evaluated phenotype of all 10 cases of genotype (c.C550T; p.R184X), collected from published literature worldwide and emphasize the potential role of above mutation as hotspot in Southeast Asian region.
authors: Department of Pediatrics, Division of Genetics, MAMC Associated Lok Nayak Hospital, New Delhi, India.
authors: Ankur
authors: A
authors: Singh
authors: Department of Pediatrics, Division of Genetics, MAMC Associated Lok Nayak Hospital, New Delhi, India.
authors: Amit
authors: A
authors: Garg
authors: Department of Pediatrics, Division of Genetics, MAMC Associated Lok Nayak Hospital, New Delhi, India.
authors: Seema
authors: S
authors: Kapoor
authors: Department of Pathology, MAMC Associated Lok Nayak Hospital, New Delhi, India.
authors: Nita
authors: N
authors: Khurana
authors: Department of Molecular Medicine and Surgery, Clinical Genetics Unit, Karolinska Institutet, Karolinska University Hospital, Solna, Stockholm, Sweden.
authors: Miriam
authors: M
authors: Entesarian
authors: Department of Women's and Children's Health, Childhood Cancer Research Unit, Karolinska Institutet, Karolinska University Hospital, Solna, Stockholm, Sweden.
authors: Bianca
authors: B
authors: Tesi
keywords: Griscelli syndrome; Kala Azar; mutation