Dados do Trabalho

Título

ANTI-AQP4+ NEUROMYELITIS OPTICA MIMICKING INTRAMEDULLARY TUMOR: A CASE REPORT

Apresentação do caso único

Female patient, 6 years old, previously healthy, presented with subacute bilateral amaurosis and tetraparesis. Complementary investigation with MRI of the cervical spine carried out in another service showed a tumefactive intramedullary lesion between levels C4 and C7, with contrast uptake and areas of necrosis. She was referred to our hospital for a biopsy due to suspicion of an intramedullary tumor. However, complementary investigation detected the presence of anti-AQP4 serum antibodies in high titers (1:5120), closing the diagnosis of Neuromyelitis Optica associated with anti-AQP4 antibody (NMO AQP4+). The patient received pulse therapy and did not receive plasmapheresis as she had significant improvement with pulse therapy. Control MRI performed after 2 weeks demonstrated a significant reduction in the cervical lesion. Azathioprine was started as maintenance therapy. However, after 6 months the patient developed new myelitis, resulting in Azathioprine failure. The patient is currently using rituximab and has shown a significant reduction in the cervical lesion, however, relapses characterized by painful crises with corresponding contrast enhancement in the optic nerves and cervical spinal cord remain.

Discussão

Severe inflammatory myelopathies can have a significant tumefactive effect, which is why the hypothesis of intramedullary neoplasia was raised in this patient. Therefore, NMO-AQP4+ is an important differential diagnosis of intramedullary neoplasms, especially if the evolution is acute/subacute and in the pediatric age group.

Comentários finais

Pediatric NMO-AQP4+ accounts for 3-5% of NMO cases, and its presentation can be very variable. Few cases in the literature are described with pseudotumor spinal cord injury in its initial presentation. The present case demonstrates the importance of clinical-radiological and laboratory correlation for the accurate diagnosis of neuromyelitis optica in atypical presentations.

Referências

1. Ramalakshmi NS, Srinivas D, Mahadevan A, Netravathi M. Unravelling Diagnostic Dilemma: AQP4-Positive Transverse Myelitis Mimics Spinal Intramedullary Tumor. Ann Indian Acad Neurol. 2021;24(3):436-439.
2. Fournel J, Hermier M, Martin A, Gamondès D, Tommasino E, Broussolle T, Morgado A, Baassiri W, Cotton F, Berthezène Y, et al. It Looks Like a Spinal Cord Tumor but It Is Not. Cancers. 2024; 16(5):1004.
3. Ringelstein M, Metz I, Ruprecht K, et al. Contribution of spinal cord biopsy to diagnosis of aquaporin-4 antibody positive neuromyelitis optica spectrum disorder. Multiple Sclerosis Journal. 2014;20(7):882-888.
4. Pizzolato Umeton R, Waltz M, Aaen GS, et al. Therapeutic Response in Pediatric Neuromyelitis Optica Spectrum Disorder. Neurology. 2023;100(9):e985-e994.

Palavras Chave

Neuromyelitis optica spectrum disorder; Intramedullary tumor; Aquaporin-4 antibody