Hasan AYDIN, VOLKAN KIZILGÖZ, İdil Güneş TATAR, Nilay OKTAY AYDIN, Baki HEKİMOĞLU

Griscelli syndrome: Clinical features and brain MRI findings

Griscelli sendromu, değişik düzeyde immün yetmezlik ve kısmi albinism ile karakterize nadir gözlenen otozomal resesif bir bozukluktur. Saç tellerinin mikroskopisinde, gümüş grisi renk ve geniş kümeleşen melanozomlar teşhis koydurucudur. Belirli enfeksiyonlara artmış eğilim mevcut olup hayatı tehdit eden lenfohistiositik sendrom gelişimine de meyil vardır. Ölüme sebebiyet veren en sık komplikasyon, beyin gibi değişik dokularda lenfositik birikimdir. Bu olguda klasik klinik özellikler ile serebellar ve pontin atrofi, her iki arka fossada ve supratentoryal serebral hemisferlerde ensefalomalazik değişiklikler gibi beyin MR görüntüleme bulguları ile bir Griscelli sendromlu çocuk bildirilmektedir.

Griscelli sendromu: Klinik özellikleri ve beyin MRG bulguları

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. There is increased susceptibility to certain infections and tendency to develop a life threatening hemophagocytic syndrome. The most common complication leading to mortality is the lymphohistiocytic proliferation in various organs, including the brain. We present a child with classical clinical features and brain MRI findings including cerebellar and pontine atrophy, and encephalomalasic changes in both the posterior fossa and the supratentorial cerebral hemispheres.

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