Abstract
Background: Pediatric Neuromyelitis Optica Spectrum Disorder (NMOSD) is rare and poorly characterized in Pakistan, with only isolated case reports published to date.
Objective: To describe the clinical, radiological, and serological profiles with short-term outcomes of pediatric NMOSD at a tertiary care center in Pakistan.
Methods: This retrospective study reviewed 122 pediatric patients with acute demyelinating disorders at Aga Khan University Hospital, Karachi (2020–2024). Nine patients meeting the 2015 IPND criteria for NMOSD were included. Demographics, clinical features, MRI findings, CSF analysis, serological profiles, treatment strategies, and EDSS scores at discharge and three months were analyzed.
Results: The mean age at presentation was 10.6 years, with a slight male predominance (1.25:1). AQP4 antibodies were identified in 22%, MOG antibodies in 22%, and 56% remained seronegative. All patients phenotypically had both optic neuritis and transverse myelitis, with LETM present in 100% on spinal MRI. Brainstem involvement was observed in 44% of patients. AQP4-positive patients demonstrated the most severe outcomes (mean discharge EDSS: 7.5), while MOG-positive patients achieved full recovery (EDSS: 0) at three months. No deaths occurred during the study period.
Conclusion: This first comprehensive Pakistani pediatric NMOSD cohort highlights a low AQP4-positivity rate, high brainstem involvement, and variable outcomes across serological subgroups, reinforcing the need for thorough clinical, radiological, and immunological evaluation.