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Anti-NMDA Receptor Encephalitis in a Patient with Tuberous Sclerosis-Related Brain Tumor: A Case Report
Thomas Ihl1, Friederike A Arlt1, Marie-Luise Machule1
1Klinik und Hochschulambulanz für Neurologie, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Abstract:
Anti-NMDA receptor (NMDAR) encephalitis (NMDARE) is an important treatable cause of autoimmune psychosis in all age-groups, which is sometimes associated with tumors, especially ovarian teratomas. Tuberous sclerosis complex (TSC) is an autosomal dominant inherited neurocutaneous disease predisposing for development of benign tumors. We present a case of a 35-year-old woman with recurrent episodes of schizophrenia-like symptoms. Accidentally, MRI revealed TSC-related brain tumors. NMDAR antibody titers were strongly positive in serum and cerebrospinal fluid. This is the first case describing an overlap of NMDARE and TSC-related brain tumors. A review of brain tumors and NMDARE is given in the supplementary material. Although a causal link seems interesting from a pathophysiological point of view, we are in favor of a coincidence.
Insights
This case study reports the first overlap of Anti-NMDA receptor encephalitis (NMDARE) and Tuberous Sclerosis Complex (TSC)-related brain tumors in a patient with schizophrenia-like symptoms. The authors suggest the conditions likely occurred coincidentally.
Area of Science:
- Neuroimmunology
- Neurology
- Oncology
Background:
- Anti-NMDA receptor encephalitis (NMDARE) is a treatable autoimmune cause of psychosis, often linked to tumors like ovarian teratomas.
- Tuberous Sclerosis Complex (TSC) is an inherited neurocutaneous disorder characterized by benign tumor development.
Observation:
- A 35-year-old woman presented with recurrent schizophrenia-like symptoms.
- Incidental MRI findings revealed brain tumors associated with TSC.
- High NMDAR antibody titers were detected in her serum and cerebrospinal fluid.
Findings:
- This is the first documented case of co-occurrence between NMDARE and TSC-related brain tumors.
- The study presents a unique overlap of autoimmune encephalitis and a genetic tumor predisposition syndrome.
- A review of brain tumors and NMDARE is provided in supplementary materials.
Implications:
- While a causal link between NMDARE and TSC-related tumors is pathophysiologically interesting, this case suggests a coincidental occurrence.
- This finding expands the differential diagnosis for autoimmune psychosis and neurocutaneous disorders.
- Further research may explore potential shared pathways or coincidental presentations in complex neurological cases.
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