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

Sep 28, 2026

Challenging anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis occurred in a 36-year-old woman with neurofibromatosis type I (NF1) and prior craniopharyngioma. Despite a functioning ventriculoperitoneal (VP) shunt and negative infectious workup, she developed severe catatonia and neuropsychiatric symptoms, requiring intensive immunotherapy and psychiatric care. Diagnostic complexity stemmed from overlapping NF1 features, recent CNS procedures, and autoimmune encephalitis mimicking a psychiatric illness. Catatonia obscured early treatment response, hindering assessment, while coordinated multidisciplinary care led to improvement. The report emphasizes timely recognition and management of catatonia in autoimmune encephalitis, especially with neurogenetic disorders and recent neurosurgery.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages7

Reading Time18 min

AccessFree to download

Abstract

Introduction

Case Presentation

Figure 1 - MRI brain

Figure 2 - VP shunt series

Review began 11/08/2025 Review ended 11/14/2025 Published 12/02/2025 © Copyright 2025 Gebreselassie et al. This is an open access article distributed under the terms of the Creative Commons Attribution License CCBY 4.0. , which permits unrestricted use , distribution , and reproduction in any medium , provided the original author and source are credited. DOI: 10.7759/cureus.98336 Open Access Case Report Trapped in Silence: Severe Catatonia From AntiN-Methyl-D-Aspartate (NMDA) Receptor Encephalitis in a Neurofibromatosis Type 1 Patient With Craniopharyngioma Kirubel Z. Gebreselassie 1, Tizita Negash 2, Pablo Andres Bravo 3 , Wayne Chiu 1 1. Internal Medicine, Northside Hospital, Atlanta, USA 2. Epidemiology and Public Health, Emory University Rollins School of Public Health, Atlanta, USA 3. Neurology, Northside Hospital, Atlanta, USA Corresponding author: Kirubel Z. Gebreselassie, [kirubelz42@gmail.com](kirubelz42@gmail.com) 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. Categories: Neurology, Psychiatry, Genetics Keywords: anti nmda receptor encephalitis, craniopharyngioma surgery, neurofibromatosis 1 (nf1), refractory catatonia, ventriculoperitoneal (vp) shunt Introduction Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a rare autoimmune disorder predominantly affecting young adults, particularly females, and often presents with psychiatric symptoms that can mimic infectious or primary psychiatric conditions. While commonly linked to ovarian teratomas, around 40% of cases occur without tumors, frequently following infections or surgeries [1,2] . This report is distinctive as it documents anti-NMDAR encephalitis in the absence of tumor association, occurring in a patient with neurofibromatosis type 1 (NF1) and a prior craniopharyngioma treated surgically. NF1, an autosomal dominant disorder caused by NF1 gene mutations on chromosome 17q 11.2, is typically associated with cutaneous and ocular findings but also includes central nervous system (CNS) involvement, such as cognitive and attention deficits [3,4] . These overlapping features can complicate the diagnostic process when autoimmune encephalitis is suspected [4] . Catatonia, seen in 50-80% of anti-NMDAR encephalitis cases [5], presents with mutism, stupor, and rigidity, and may be misdiagnosed as a psychiatric illness. It results from NMDAR hypofunction and often requires immunotherapy, sometimes with benzodiazepines or electroconvulsive therapy (ECT) [6] . Case Presentation A 36-year-old female with NF1 and a history of craniopharyngioma resection (May 2024) (Figure 1) presented with subacute neuropsychiatric symptoms. She had previously undergone ventriculoperitoneal (VP) shunt placement in March 2024 for obstructive hydrocephalus and had completed 30 sessions of cranial radiation therapy. Until early 2025, she remained neurologically intact, independent, and employed in two jobs. How to cite this article Gebreselassie K Z , Negash T , Bravo P , et al. (December 02 , 2025) Trapped in Silence: Severe Catatonia From Anti-N-Methyl-D-Aspartate (NMDA) Recep

FAQs

What condition does the case report focus on?

The report focuses on anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis presenting with severe catatonia in an NF1 patient with prior craniopharyngioma.

Why was diagnosis particularly difficult in this patient?

Diagnostic challenges came from overlapping neurofibromatosis type 1 manifestations, recent CNS procedures, and autoimmune encephalitis that mimicked a primary psychiatric illness.

How did the patient's condition change after treatment?

Her condition improved following coordinated multidisciplinary care that included intensive immunotherapy and psychiatric management, with emphasis on earlier recognition of catatonia.

Sep 28, 2026

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