Anti-N-methyl-D-aspartate Receptor Encephalitis in Turner Syndrome with 45,X/46,X,idic(X)(p11.4) Mosaics

A 46-year-old woman with Turner syndrome (TS) (45,X/46,X,idic (X) (p11.4) mosaic) presented with a fever, unresponsiveness, hyperhidrosis, and rigidity approximately one month after episodes of confusion and suicide attempts, prompting a diagnosis of schizophrenia. Cerebrospinal fluid (CSF) showed m...

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Bibliographic Details
Published in:	Internal Medicine p. 4196-24
Main Authors:	Kurimoto, Jun, Kawakita, Rie, Chiba, Yuta, Morishita, Asahiro, Masaki, Tsutomu, Deguchi, Kazushi, Kobara, Hideki
Format:	Journal Article
Language:	English
Published:	Japan The Japanese Society of Internal Medicine 2024
Subjects:	anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis autoimmune disorder mosaicism Turner syndrome anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis Turner syndrome autoimmune disorder mosaicism
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Summary:	A 46-year-old woman with Turner syndrome (TS) (45,X/46,X,idic (X) (p11.4) mosaic) presented with a fever, unresponsiveness, hyperhidrosis, and rigidity approximately one month after episodes of confusion and suicide attempts, prompting a diagnosis of schizophrenia. Cerebrospinal fluid (CSF) showed mild hypercellularity with oligoclonal bands. Brain and abdominal magnetic resonance imaging showed no abnormalities. Bizarre upper-extremity movements and spasms followed the trial administration of acyclovir, and autoimmune encephalitis was suspected. Intensive immunotherapy was initiated, and the symptoms improved. Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis was diagnosed based on the presence of anti-NMDAR antibodies in her spinal fluid. This case represents a rare presentation of anti-NMDAR encephalitis in TS, which is susceptible to autoimmune disease complications.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0918-2918 1349-7235 1349-7235
DOI:	10.2169/internalmedicine.4196-24