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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
Chédiak-higashi syndrome: a case report
Shashikant C U Patne1, Sandip Kumar1, Narendra Kumar Bagri2
1Department of Pathology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, 221 005 Uttar Pradesh India.
Abstract:
Chédiak-Higashi syndrome (CHS) is an extremely rare autosomal recessive immunodeficiency disorder. Approximately 200 cases have been reported worldwide. To the best of our knowledge, not more than 10 cases have been reported from India. Herein we are reporting a case of CHS in one-and-half-year-old boy who presented to us in the accelerated phase of disease. Other syndromes presenting with similar clinical features have also been discussed.

