Title : Clinico-radiological profile of CNS demyelinating disorders
Abstract:
Introduction: Patients with demyelinating lesions in the brain and spinal cord exhibit various symptoms. Differentiating between demyelinating diseases is challenging, necessitating thorough evaluations for proper management and prognosis. Limited literature on this topic in India underscores the need for this study, which aims to assess the etiological, clinical, and radiological profiles and treatment outcomes of CNS demyelinating diseases.
Objectives:
- To study the clinical presentation and radiological features in patients with the first episode of CNS demyelinating disorders.
- To diagnose patients with demyelination and study their functional outcomes at 3 months.
Methodology: This prospective study, conducted from October 2023 to November 2024 at Kasturba Medical College in Manipal, India, focuses on patients over 12 years experiencing their first clinical episode of CNS demyelination. Exclusion include previously diagnosed CNS demyelination disorders and patients with other brain diseases.
Procedures: Patients with confirmed demyelinating CNS disease were included after obtaining informed consent. Evaluations followed the neurology department protocol, documenting clinical presentations, radiological profiles, serological investigations, neurophysiological studies, and CSF findings. Functional status was assessed using the Modified Rankin Scale (MRS) and the Expanded Disability Status Scale (EDSS) at presentation and after three months. Follow-ups monitored recurrent lesions and symptom worsening.
Results: Interim analysis of 33 patients revealed a median age of 38 years, with a higher prevalence in females (56.3%). Idiopathic causes were most common (68.8%), followed by NMOSD-MOG (12.5%), NMOSD-AQP4 (6.3%), and multiple sclerosis (6.3%). Visual disturbances were the most frequent symptom (62.5%), followed by motor weakness (50%) and bladder involvement (31.3%). Imaging commonly showed optic neuritis (40.6%) and longitudinally extensive transverse myelitis (21.9%). In patients with multiple sclerosis, motor weakness and ataxia were prevalent, with MRI revealing periventricular and cortical lesions. MOG-associated disease presented with vision blurring and sensory paresthesia, and imaging showed optic neuritis and LETM. NMOSD-AQP4 positive patients exhibited vision blurring and motor weakness, with optic neuritis and LETM on imaging. ADEM was characterized by motor weakness and altered sensorium, with cortical and periventricular involvement. Neurosarcoidosis presented with motor weakness and LETM. Serological tests indicated 6.3% NMO AQP4 positivity and 12% MOG positivity. All patients received steroids; 25% received rituximab and 6.3% IVIG. The mean EDSS score improved from 4.1 at presentation to 3.5 after three months, with 59.4% showing improvement.
Comparative Analysis: Pandit et al. (2021) highlighted that clinical feature of MS in hospital-based studies showed pyramidal dysfunction as a common initial attack. Aquaporin 4-IgG-associated NMOSD were predominantly in women with myelitis as the most common initial attack. In contrast, MOG-IgG-associated disorders often presented with optic neuritis. Kim et al. (2017) noted similar demographic distributions and clinical presentations in Asian populations. Wingerchuk et al. (2015) and Thompson et al. (2018) both support the effectiveness of early treatment in NMOSD and MS, respectively, emphasizing the importance of early diagnosis and tailored treatment plans.
Conclusion: This study underscores the critical role of comprehensive diagnostic workups in demyelinating diseases, guiding both immediate and long-term management strategies. Timely and appropriate interventions, even in severe presentations, can lead to substantial recovery, highlighting the importance of early diagnosis and tailored treatment plans.
