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Journal of Case Reports
Unusual Presentation of Griscelli Syndrome: Neurological Involvement without Hematologic Manifestations
Shalini Akunuri, Akanksha Jain, Varun Narwal, Shahzad Alam
Department of Pediatric Intensive care, Narayana Health, Bangalore, India.
Corresponding Author:
Dr. Shalini Akunuri
Email: akunurishalini@gmail.com 
Received: 24-JAN-2017 Accepted: 21-MAR-2017 Published Online: 15-APR-2017
DOI: http://dx.doi.org/10.17659/01.2017.0039
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.
Keywords : Biopsy, Hair, Hypopigmentation, Immunologic Deficiency Syndromes, Lymphohistiocytosis.
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