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CASE REPORTS
JOURNAL ARTICLE
Association of Anti N-methyl-D-aspartate (NMDA) Receptor Encephalitis with Chediak-Higashi Syndrome.
Indian Pediatrics 2019 June 16
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.
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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