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Updated: Jan 22, 2026

A Simple Cell-based Immunofluorescence Assay to Detect Autoantibody Against the N-Methyl-D-Aspartate NMDA Receptor in Blood
Published on: January 9, 2018
Association of Anti N-methyl-D-aspartate (NMDA) Receptor Encephalitis with Chediak-Higashi Syndrome
Naveen Bhardwaj1, Vykuntaraju K Gowda2, Sahana M Srinivas3
1Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangaluru, Karnataka, India.
Background:
Neurological manifestations of Chediak-Higashi syndrome mainly include peripheral neuropathy, ataxia, tremors, cranial nerve palsies, intellectual decline and seizures.
Case Characteristics:
A 2 years 10 month old girl with silvery hair syndrome presented with sub-acute onset behavioral issues, ataxia and multiple type abnormal movements. Cerebrospinal fluid examination was positive for Anti NMDA receptor antibodies. Hair shaft examination and peripheral blood film findings were suggestive of Chediak Higashi syndrome.
Message:
Anti NMDA receptor encephalitis may be associated with Chediak Higashi Syndrome.
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