Syringomyelia in Neuromyelitis Optica Seropositive For Aquaporin-4 Antibody: A Case Report

ISSN: 2320-5407 Int. J. Adv. Res.
9(10), 656-659
Journal Homepage: -www.journalijar.com
Article DOI:10.21474/IJAR01/13589
DOI URL: http://dx.doi.org/10.21474/IJAR01/13589
RESEARCH ARTICLE
SYRINGOMYELIA IN NEUROMYELITIS OPTICA SEROPOSITIVE FOR AQUAPORIN-4 ANTIBODY:
A CASE REPORT
Maria Niña Grace Q. Bastinen, MD

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Manuscript Info Abstract
……………………. ………………………………………………………………
Manuscript History Neuromyelitis Optica (previously called Devic’s disease) is an
Received: 28 August 2021 autoimmune-induced demyelinating disorder of the central nervous
Final Accepted: 30 September 2021 system that primarily affects the optic nerves and spinal cord. This
Published: October 2021
manuscript presents a case of a 28-yearold female patient who
clinically presented with acute lower extremity weakness and
numbness associated with unilateral impairment of vision. Later in the
course of the disease, magnetic resonance imaging of the cervico-
thoracic spine showed multi-level abnormal non-enhancing and
enhancing lesions from levels C3 to T8 levels which were identified to
be combined transverse myelitis and cord syrinx. An anti-aquaporin-4
receptor antibody was obtained and yielded to be seropositive. Given
the patient’s clinical manifestations, combined with imaging and
laboratory examinations, led to a diagnosis of Neuromyelitis Optica
(NMO). The patient was managed with high-dose steroids. The
significant discovery of anti-aquaporin-4 antibodies served as a key
factor in the NMO immunopathogenesis. It is currently regarded as a
specific biomarker of the diagnostic process, making it distinguishable
from multiple sclerosis. This case highlights the mechanism of
formation of a fluid-filled syrinx-like cavity in the cord in the setting of
Neuromyelitis Optica.
CopyRight, IJAR, 2021, .All rights reserved.

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INTRODUCTION
Neuromyelitis Optica (NMO) is a rare autoimmune demyelinating disease that is severe and debilitating [1].
Clinical presentation and some radiological features are frequently mixed up with multiple sclerosis (MS). The
groundbreaking discovery of an auto-antibody biomarker NMO-IgG (AQP4-Ab) has been used to delineate if from
MS [2]. On the other hand, syringomyelia is a pathologic response of the spinal cord rather than a disease itself. The
exact etiology remained unclear. It is characterized by an accumulation of CSF in the spinal cord that may be
progressive, that causes dissociative paresthesiae mainly affecting pain and temperature sensations with preferential
involvement of the upper extremities in a cape-like distribution [3].
Concomitant syringomyelia in multiple sclerosis (MS) has been described in various case series or reports. There is
extremely limited literature describing syringomyelia coexisting with Neuromyelitis Optica [6-9]. To date, none
have been encountered in the local literature. This paper aims to report the first case of a Filipino patient with NMO
and coexisting syringomyelia.
Corresponding Author:-Maria Nina Grace Q. Bastinen, MD
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ISSN: 2320-5407 Int. J. Adv. Res. 9(10), 656-659
CASE PRESENTATION
Written and informed consent was obtained from the patient and the study was approved by the ethics review board.
The patient is a 28-year-old female with no known comorbidities, was admitted to a tertiary hospital with a chief
complaint of progressive bilateral lower extremities weakness and hypoesthesia for 1 week. Symptoms were
persistent for 2 months, initially occurring intermittently 1-2 times per week, and accompanied with upper back pain
characterized as electric-shock-like sensation, from the nape area radiating to the upper back over the shoulders then
down the thoracic region. Progression of symptoms became notable after 1 month, associated with the onset of
band-like truncal sensory deficit, urinary incontinence, and blurring of the right eye vision. She exhibited
impairment of gait and difficulty maintaining an upright position.
Physical examination upon admission revealed normal vital signs as well as, cardiac, respiratory, and abdominal
examinations. Neurologic examination suggested a normal mental status. Cranial nerves examination reported
impaired visual acuity on the right eye and able to perceive hand movements with positive RAPD on swinging light
test whereas, the left eye exam was all normal. The pupillary light reflexes were normal and has fully intact
extraocular muscle movements. On ophthalmoscope examination, the disc border over the nasal area of the right eye
was paler than the left. The facial muscles activity was symmetrical with no sensory deficit. The hearing, gag reflex,
and tongue placement were essentially normal. There was a weakness of the bilateral lower extremities with a
muscle strength grade of 3/5 over the proximal part and 1/5 over the distal part. Dermatomal sensory examination
revealed abnormal findings in the modalities of light touch, pain, and temperature with 50% deficit at the
dermatomal areas T5 to T8 and 70% deficit at the dermatomes T9 to S3. Vibration sense was absent over the bony
prominences of the lowerextremities. Position sense was impaired on both the bilateral upper and lower extremities.
Deep tendon reflexes revealed hyporeflexia. Examination of the pathological reflexes recorded a positive Lhermittes
sign and bilateral Babinski.
Complete blood count, blood chemistry, coagulation studies, electrocardiogram, and chest x-ray imaging were
essentially normal. Magnetic resonance imaging of the spinal cord suggested the presence of demyelinating cord
lesion in segments C3-C4, T1- T2 & T-T8 (Fig. 1A-C) and syringomyelia from C3- C5 and T2-T6 (Fig. 1D-E). The
optic nerve on the MRI was suggestive of optic neuritis (Fig. 2A-B). The fundoscopic examination was done and
revealed optic atrophy of the right eye (Fig. 2C) with generalized depression of the visual perimetry (Fig. 2D).
Serum NMO-IgG revealed a positive result.
Figure 1. MRI of the cervicothoracic spine shows a T2 hyperintense, mildly non-enhancing intrinsic cord signal
abnormality C3-C4 levels, T1-2, and T7-8 levels (A, B, C). Cord Syrinx C3-5 (D), T2-6 (E).
Based on the clinical manifestations, supported by the immunologic and radiographic examinations, a diagnosis of
NMO was confirmed. The patient was managed pharmacologically and given 5-days treatment of high-dose
intravenous methylprednisolone pulse therapy (1000 mg daily) and shifted to oral prednisolone at 20 mg daily
thereafter, with subsequent improvement of symptoms. Azathioprine of 2.5 mg/kg was started and maintained even
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ISSN: 2320-5407 Int. J. Adv. Res. 9(10), 656-659
after her being discharged after a month of confinement. On her follow-up 1 month after discharge, her vision
recovered to normal, and able to do her usual daily activities. Her hematologic parameters and liver enzymes were
normal. Azathioprine 50 mg/tab twice daily was continued and Prednisone was gradually tapered.
Figure 2. Contrast-enhanced T1 (Fat suppressed-orbital cuts) images show mild enhancement of the optic nerve on
the right with arrowhead (A) and T2 orbital cuts show hyperintensity involving the right optic nerve (B). Disc photo
of the right eye shows characteristic pale, “flat white” optic disc, reduced blood vessels on the surface, and
attenuation of peripapillary blood vessels, suggestive of optic atrophy (C). Visual field map showing a generalized
depression on the right eye and a normal field map on the left eye, take note that the VA of the patient on the right
eye is HAND movement (D).
DISCUSSION
The case presented arrived at a diagnosis of NMO, by following the revised criteria proposed to have been
commonly used for years, including 2 of the absolute symptoms of optic neuritis(ON) and acute myelitis, and at
least two of three supportive criteria including contiguous spinal cord lesion of no less than 3 vertebral segments via
MRI, brain MRI demonstrating lesions inconsistent of multiple sclerosis, and seropositivity of NMO-IgG [4]. In the
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ISSN: 2320-5407 Int. J. Adv. Res. 9(10), 656-659
previous study, the detection of the AQP4 serum autoantibody yields a sensitivity of 91% and specificity of 100%
for NMO and is positive in up to 80% of patients [5].
The patient presented also developed syringomyelia in the cervical and thoracic spine. The combination of the
extensive demyelinating lesion (mild non-enhancing intrinsic cord signal on C3-C4 levels, T1-2, and T7-8 levels)
and the formation of cord syrinx (enhancing lesion on C3-5 and T2-6) may not be just coincidental and considered
to have a connection in the mechanism of syringomyelia formation in the setting of NMO.
There were previous studies reported on patients with radiological findings of syringomyelia in the setting of NMO
[6-9]. Previous studies suggested that AQP4-IgG antibody binding to astrocytic AQP4 and localization to the
central gray matter with high expression of AQP4, significantly contribute to the pathogenesis of NMO and may
facilitate the formation of syrinx through cascade activation including complement-dependent cytotoxicity (CDC),
the infiltration of inflammatory cells, blood-brain barrier disruption, oligodendrocyte injury, and demyelination
CONCLUSION
This report described the first case of a patient in the Philippines with NMO combined with syringomyelia from C3
to T8 vertebral segments. Neuromyelitis Optica is a severely disabling condition, if undetected may succumb to
incomplete recovery and irreversible disability. In this perspective, utilizing the diagnostic criteria and detection for
anti-aquaporin-4 antibodies are of paramount importance to the diagnosis and management of NMO. Furthermore,
our case report exemplifies that radiologic findings of syringomyelia should warrant clinicians to further investigate
and consider the possibility of NMO.
REFERENCES
1. David JG, Michael L, Douglas K, William FW. Neuromyelitis Optica Pathogenesis and Aquaporin 4. J
Neuroinflammation. 2008 May;5:22.
2. Lennon VA, Kryzer TJ, Pittock SJ, Verkman AS, Hinson SR: IgG marker of optic-spinal multiple sclerosis
binds to the aquaporin-4 water channel. J Exp Med 2005, 202:473–477.
3. Kahn EN, Muraszko KM, Maher CO. Prevalence of Chiari I Malformation and Syringomyelia. Neurosurg Clin
N Am. 2015 Oct;26(4):501-7.
4. Wingerchuk D, Lennon V, Pittock S, Lucchinetti C and Weinshenker B. Revised diagnostic criteria for
neuromyelitis optica. Neurology 2006; 66: 1485-1489.
5. Kleiter I, Gahlen A, Borisow N, et al; Neuromyelitis Optica Study Group. Neuromyelitis optica: evaluation of
871 attacks and 1,153 treatment courses. Ann Neurol. 2016;79:206–216. doi:10.1002/ana.24554.
6. Sakabe E, Takizawa S, Ohnuki Y, Ohnuki Y, Kontani S, Takagi S. Syringomyelia in neuromyelitis optica
seropositive for aquaporin-4 antibody. Intern Med. 2010;49(4):353–4.
7. Tang M, Zhou Q, Zhu Y. Syringomyelia in patient with neuromyelitis optica spectrum disorder: a case report.
Int J ClinExp Med 2016;9(7):14568-14571.
8. Camara NA, Obonzo k, Vicky F, Mouni FZ, Attar Z, Hicham EO, Bouchhra EM, Mohamed Abdo R, Ilham S.
Coexistence of syringomyelia, malformations of the craniocervical junction and Devic's neuro-myelitis (about
three cases). Journal of Neurol Sci. 2017; 381 (2017) 188–373.
9. Xiangling Li, Zhengqi Lu, Yanqiang Wang. Syringomyelia-like syndrome in neuromyelitis optica spectrum
disorder complicated with Sjogren’s syndrome: a case report. Li et al. BMC Neurology (2018) 18:168.
10. Christopher B.Shields, et.al. Post-traumatic syringomyelia: CSF hydrodynamic changes following SCI are the
driving force in the development of PTSM Handbook of Clinical Neurology Volume 109, 2012, Pages 355-367.
11. C. Rusbridge, et.al. Syringohydromyelia in cavalier King Charles spanielsJournal American Animal Hospital
Association. 2000;36: 34–41.
12. Corinna Trebst e. al. Update on the diagnosis and treatment of neuromyelitis optica: Recommendations of the
Neuromyelitis Optica Study Group(NEMOS). J Neurol (2014) 261:1–16.
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ISSN: 2320-5407 Int. J. Adv. Res.

Journal Homepage: -www.journalijar.com

Maria Niña Grace Q. Bastinen, MD

CopyRight, IJAR, 2021, .All rights reserved.

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