# Trapped in Silence: Severe Catatonia From Anti-N-Methyl-D-Aspartate (NMDA) Receptor Encephalitis in a Neurofibromatosis Type 1 Patient With Craniopharyngioma

**Authors:** Kirubel Z Gebreselassie, Tizita Negash, Pablo Andres Bravo, Wayne Chiu

PMC · DOI: 10.7759/cureus.98336 · Cureus · 2025-12-02

## TL;DR

A patient with neurofibromatosis type 1 and a history of craniopharyngioma developed severe catatonia due to anti-NMDA receptor encephalitis, highlighting diagnostic and treatment challenges.

## Contribution

Highlights the complexity of diagnosing autoimmune encephalitis in patients with neurogenetic disorders and recent neurosurgical history.

## Key findings

- Severe catatonia in a patient with NF1 and craniopharyngioma was caused by anti-NMDAR encephalitis.
- Timely multidisciplinary care was essential for managing overlapping psychiatric and autoimmune symptoms.
- Catatonia delayed treatment response assessment, complicating clinical management.

## Abstract

We report a challenging case of anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis in a 36-year-old female with neurofibromatosis type I (NF1) and a history of craniopharyngioma. Despite a functional ventriculoperitoneal (VP) shunt and negative infectious workup, she developed severe catatonia and neuropsychiatric symptoms, requiring intensive immunotherapy and psychiatric care. Diagnostic challenges arose from overlapping manifestations of neurofibromatosis I, recent central nervous system (CNS) procedures, and autoimmune encephalitis mimicking a psychiatric illness. Catatonia masked early treatment response, complicating clinical assessment. Her condition improved following coordinated multidisciplinary care, emphasizing the critical need for timely recognition and management of catatonia in autoimmune encephalitis, particularly in patients with neurogenetic disorders and recent neurosurgical history.

## Linked entities

- **Proteins:** Grin1 (glutamate receptor, ionotropic, NMDA1 (zeta 1))
- **Diseases:** neurofibromatosis type I (MONDO:0018975), craniopharyngioma (MONDO:0018907), anti-NMDA receptor encephalitis (MONDO:0021081), catatonia (MONDO:0800105)

## Full-text entities

- **Genes:** NF1 (neurofibromin 1) [NCBI Gene 4763] {aka NFNS, VRNF, WSS}
- **Diseases:** anti- (MESH:D006679), Catatonia (MESH:D002389), neuropsychiatric symptoms (MESH:D001523), infectious (MESH:D003141), Craniopharyngioma (MESH:D003397), autoimmune encephalitis (MESH:D020274), neurogenetic disorders (MESH:D020271), Neurofibromatosis Type 1 (MESH:D009456)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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## References

12 references — full list in the complete paper: https://tomesphere.com/paper/PMC12757141/full.md

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Source: https://tomesphere.com/paper/PMC12757141