A rare cause of Partial Albinism - GRISCELLI SYNDROMEJournal: University Journal of Medicine and Medical Specialities (Vol.5, No. 2)
Publication Date: 2019-03-28
Authors : SIVA SHANKARI V VEERAMANI;
Page : 60-61
Keywords : G r i s c e l l i S y n d r o m e; Melanosomes; Hemophagocytosis; Chediak Higashi; Elejalde Syndrome;
It is a rare autosomal recessive disease named after Claude Griscelli Prunieras . He described the Griscelli syndrome or partial albinism in 1978. So far only 65 cases were reported all over the world. Age group affected 4months-4years, No sex predilection. Incidence less than 1 to 1,00,000. This child presented with abdominal distension and hypopigmented hair with normal mental Development. There was no similar illness in the family. Differential diagnosis of griscelli syndrome, chediak higashi syndrome and elejalde syndrome were made. Hair shaft examination clinched the diagnosis. Skin biopsy was also done which also helped in the diagnosis. Mutational analysis can be done but it was not done this case.
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Last modified: 2019-03-29 19:30:10