Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918

This article has now been updated. Please use the final version.

Anti-N-methyl-D-aspartate Receptor Encephalitis in Turner Syndrome with 45,X/46,X,idic(X)(p11.4) Mosaics
Jun KurimotoRie KawakitaYuta ChibaAsahiro MorishitaTsutomu MasakiKazushi DeguchiHideki Kobara
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JOURNAL OPEN ACCESS Advance online publication

Article ID: 4196-24

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Abstract

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.

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© 2024 by The Japanese Society of Internal Medicine

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