Griscelli Syndrome

Griscelli Syndrome:

• The syndrome resembles Chediak-Higashi syndrome.
• Usually causes death in early childhood.
• Autosomal recessive disorder.
• Griscelli syndrome is a disorder of melanosome transport -with 3 subtypes.
• * Griscelli syndrome type 1 (Elejalde syndrome) - gene MYO5A
• * Griscelli syndrome type 2 (Partial albinism with immunodeficiency) - gene RAB27A
• * Griscelli syndrome type 3 - gene MLPH

Clinical Features:

• Dermatology - Silver-grey hair, pale skin, focal depigmentation.
• Gastrointestinal - Hepatosplenomegaly
• Immunology - Multiple immunodeficiencies, pyogenic infections
• Neurology - Demyelinating CNS disease

Tags: Depigmentation - Griscelli Syndrome - Hepatosplenomegaly - Immunodeficiency
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