Article Type : Case Report
Authors : Gallegos-Guerrero Marisol, Martínez-Roque Denisse, Martin-Solis Andre, Flores Sahian, Hernández Mario, Martínez-González David, Martínez-Mayorga Adriana Patricia and Rodríguez-Leyva Ildefonso
Keywords : Neuromyelitis optica (NMO); Devic's disease; Aquaporin-4 (AQP4); Extensive longitudinal transverse myelitis; Optic neuritis; AQP4-IgG antibodies; MOG-IgG antibodies
We present an interesting case of
Neuromyelitis optica (NMO), also known as Devic's disease. NMO is an
inflammatory and autoimmune central nervous system (CNS) disorder that
primarily affects the optic nerve and spinal cord. This case report illustrates
the disease's clinical manifestations and highlights the importance of early
diagnosis for better treatment outcomes.
Objective: To detail the clinical
presentation of NMO and emphasize the role of timely diagnosis and appropriate
therapeutic interventions in improving patient prognosis.
Neuromyelitis optica (NMO), previously
known as Devic's disease, is an inflammatory disease characterized by four
clinical syndromes: atypical optic neuritis where there is severe vision loss
and bilateral involvement, transverse myelitis or longitudinally extensive
myelitis, postrema area syndrome, and brainstem syndrome. Unlike multiple
sclerosis, this disease affects gray and white matter, and its target of
affection is the astrocytes, where aquaporin-4 (AQP4) receptors are found. Part
of the diagnosis is the identification of the autoantibody, which is known as
anti-AQP4.
The objective of
this case is to present the case of a patient who has had multiple clinical
syndromes throughout his life and could be consolidated as NMO anti-AQP4
positive.
We present the case of a 53-year-old male, an
independent public accountant, who bravely faced the challenges of NMO. His
journey began with left optic neuritis and vision loss in 2017, which was
treated with methylprednisolone. A year later, he experienced a relapse with
right optic neuritis, again treated with methylprednisolone. In 2024, the
patient developed transverse myelitis syndrome, leading to lower extremity
weakness and urinary retention. He sought our clinic's help in March 2024 due
to gait disturbances, recurrent falls, and numbness, predominantly affecting
the right pelvic limb. Neurological examination revealed loss of strength in
the right forearm and hand, accompanied by diminished sensitivity to coarse and
fine touch. The patient also reported persistent holocranial headache (4/10
intensity), tremors, and a single episode of sphincter incontinence.
MRI findings indicated:
Serology confirmed IgG AQP4 positivity and IgM
anti-MOG negativity (<1:1600). These findings, which are consistent with a
diagnosis of NMO, established the diagnosis of neuromyelitis optica spectrum
disorder (NMOSD).
The patient's IgG AQP4 positivity indicates a high
likelihood of NMO, while the absence of IgM anti-MOG antibodies suggests a
lower risk of certain complications and a more favourable prognosis.
We started methylprednisolone in pulses: 1 g daily for
five days and Tocilizumab initiation with ongoing biosafety monitoring and
clinical evaluations.
This clinical case underscores the importance of timely and appropriate management in NMO. Methylprednisolone and tocilizumab are key components of the therapeutic strategy for AQP4-IgG-positive NMOSD. Recent studies support tocilizumab's efficacy in reducing relapse rates and improving the Expanded Disability Status Scale (EDSS) score, particularly in AQP4-IgG-positive patients.
Figure 1: Magnetic Resonance Imaging showing a longitudinal extensive myelopathy.
Tocilizumab's ability to block interleukin-6 (IL-6), a
pivotal cytokine in autoimmune inflammation, distinguishes it from other immunosuppressant’s.
Clinical trials and systematic reviews highlight tocilizumab's favourable
safety profile, with a poor incidence of severe adverse reactions. While
efficacy varies by demographic factors such as ethnicity and gender, the drug
consistently improves annualized relapse rate (ARR) and stabilizes Expanded
Disability Status Scale (EDSS) scores across patient populations. However, the
chronic evolution of NMOSD necessitates long-term management and meticulous
monitoring of treatment response, which underscores the gravity of each
patient's situation and the need for ongoing support and care. Factors such as
age, comorbidities, and treatment adherence may influence treatment and
outcome. More studies are needed shortly to address all these variables to
optimize individualized and precise care [1-6].
The clinical manifestations in this case presentation
demonstrate the principal features and progression of NMOSD and emphasize the
benefits of early immunomodulatory therapy. Tocilizumab, in particular, offers
promising results for patients with. AQP4-IgG-positive, improving clinical
answers, outcomes, and quality of life. Eight months of follow-up revealed no
EDSS progression, reinforcing the value of this therapeutic approach.