Neuromyelitis optica: a pilot study of clinical presentation and status of serological biomarker AQP4 among patients admitted to a tertiary centre in NCNS, Sudan

Etedal Ahmed Abuelbasher Ibrahim,Fatima Gammer,Alsadig Gassoum

doi:10.1186/s12868-020-0557-x

Etedal Ahmed Abuelbasher Ibrahim, Fatima Gammer + Show 1 more

Open Access

https://doi.org/10.1186/s12868-020-0557-x

Copy DOI

Abstract

BackgroundNeuromyelitis optica (NMO) is a demyelinating disease primarily affecting the optic nerves and spinal cord. It is distinguished from other demyelinating conditions by the presence of AQP4-IgG and serum aquaporin 4 (AQP4), found mainly in the blood–brain barrier. This descriptive study was conducted from January 2015 to June 2018 at the National Center for Neurological Sciences (NCNS) in Khartoum, Sudan. All participants were Sudanese patients diagnosed with NMO. In our study the selection of cases was based on Dean Wingerchuk diagnostic criteria (2006), which states that the diagnosis of NMO should meet two absolute criteria and two supportive criteria. The absolute criteria are myelitis and optic neuritis, whereas supportive criteria include radiological findings obtained from brain and spinal cord MRI. Furthermore, AQP4-IgG levels were measured from cerebrospinal fluid (CSF) and serum using immunofluorescence. Data were collected by a pre-designed questionnaire and analyzed using SPSS version 17. A p value < 0.05 was considered statistically significant.ResultsA total of 31 patients were enrolled in this study [6 male (19.4%) and 25 female (80.6%)]. The mean age was 38 ± 12.8 years. Motor and visual difficulties were the initial symptoms and occurred in 21 (67.7%) and 10 (32.3%) patients, respectively. Fundoscopy confirmed optic atrophy in 22 (71.0%) patients. The course of the disease revealed one relapse in 21 patients (67.7%). Seropositive AQP4-IgG were seen in 23 patients (79.31%). There was a significant correlation between AQP4 and response to treatment (p ≤ 0.038). The correlation between serum AQP4-IgG, showed that, complete improvement was detected in 2 patients (6.9%) one of them was positive and the other was negative, 20 (69.0%) patients presented with some disability, among them 18 (62.1%) were positive and 2 (6.9%) were negative, while 7 patients showed no improvement (24.1%) 4 out of them were positive (13.8%) and 3 were negative (10.3%).ConclusionAt the initial presentation of NMO, longitudinal myelitis was observed more frequently than optic neuritis. More than two third of the patients showed strong seropositivity for serum AQP4. Most seropositive patients showed a good response to treatment but with residual disabilities.

Highlights

Neuromyelitis optica (NMO) is a demyelinating disease primarily affecting the optic nerves and spinal cord
In this study the distribution of NMO patients indicated 18 (58.1) patients from the north of Sudan, the majority of the tribes which reside in this area were belonging to Afro-asiatic group, while 8 (25.8) from eastern Sudan, which were belonging to Afro-asiatic group, and 5 patients (16.1%) from the western Sudan, the most common tribes in this state are from Nilo-Saharan group
The correlation between serum aquaporin 4 (AQP4)-IgG, showed that, complete improvement was detected in 2 patients (6.9%) one of them was positive and the other was negative 20 (69.0%) patients presented with some disability, among them 18 (62.1%) were positive and 2 (6.9%) were negative, while 7 patients showed no improvement (24.1%) 4 out of them were positive (13.8%) and 3 were negative (10.3%)

Summary

Introduction

Neuromyelitis optica (NMO) is a demyelinating disease primarily affecting the optic nerves and spinal cord It is distinguished from other demyelinating conditions by the presence of AQP4-IgG and serum aquaporin 4 (AQP4), found mainly in the blood–brain barrier. Neuromyelitis optica (NMO) is a demyelinating disease primarily affecting the optic nerves and spinal cord [1]. It is characterized by the presence of optic neuritis and/ or myelitis. The disease is distinguished from other demyelinating conditions by the presence of AQP4-IgG which is expressed by the gene AQP4, and is mainly found in the blood–brain barrier of the central nervous system [3]. The diagnosis of the disease can be made by the associated clinical characteristics, MRI findings of a longitudinal lesion involving more than 3 consecutive vertebrae, and the presence of AQP4-IgG in the CSF as well as positive serum AQP4 [4,5,6,7,8,9,10]

Methods

Results

Discussion

Conclusion