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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
Abstract
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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Jain A
Narwal V
Alam S
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Jain A
Narwal V
Alam S
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