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.
Down syndrome is the most common chromosomal abnormality and is frequently associated with transient myeloproliferative disorder (TMD) and leukaemias. The coinheritance of this syndrome with beta-thalassemia major is uncommon. Only two cases of coinheritance of Down syndrome with beta-thalassemia major have been published in literature. We report an infant suffering from Down syndrome who presented with severe anemia which was later attributed to beta-thalassemia major and TMD. The infant improved after blood transfusion and other supportive management. The blasts disappeared from marrow during hospital stay. In areas of high prevalence of beta-thalassemia heterozygotes, the presence of coinheritance of the mentioned condition with another congenital disorder may be common.
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