Unusual Presentation of Griscelli Syndrome: Neurological Involvement without Hematologic Manifestations

[摘要] Background: Griscelli syndrome type-2 (GS2) is characterized by cutaneous hypopigmentation, immunodeficiency, and hemo-phagocytic lympho-histiocytosis. Primary neurological presentation is rare. Case Report: We hereby report 13 year old girl who presented with cutaneous hypopigmentation, clinical and radiological evidence of neurologic involvement unaccompanied by other features of hemo-phagocytosis. Electron microscopy of hair shaft and skin biopsy established the diagnosis of Griscelli syndrome. Conclusion: Neurologic manifestations in Griscelli syndrome may occur in isolation without the more common hemophagoctic-lymphohistiocytosis.

[学科分类] 生理学

[关键词] Home page Right