Unusual clinical presentations in an aquaporin-4 antibody-positive patient: a case report

TL;DR

A 52-year-old patient with atypical neurological symptoms was diagnosed with NMOSD through AQP4 antibody testing, showing the disorder can present beyond typical signs.

Contribution

This case report highlights atypical clinical presentations of NMOSD and emphasizes the importance of AQP4 antibody testing for accurate diagnosis.

Findings

The patient exhibited bilateral lower limb heaviness and sensory disturbances, not typical NMOSD symptoms.

Anti-aquaporin 4 antibody testing confirmed NMOSD despite atypical presentation.

Treatment with corticosteroids and immunosuppressants improved the patient's condition.

Abstract

Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune condition affecting the central nervous system, primarily targeting the optic nerves and spinal cord. We report the case of a 52-year-old patient with no significant medical history who presented with bilateral lower limb heaviness and sensory disturbances. Neurological examination revealed peripheral neurogenic syndrome and syringomyelic dissociation. The presence of anti-aquaporin 4 (AQP4) antibodies confirmed the diagnosis of NMOSD. Treatment with corticosteroids and immunosuppressants led to clinical improvement. This case highlights the need for heightened clinical suspicion in patients with atypical neurological symptoms, as NMOSD can present beyond its classical opticospinal manifestations, ensuring timely diagnosis and appropriate management.

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