Clinical and radiological spectrum of acquired inflammatory demyelinating diseases of the central nervous system in a tertiary care center.

Objectives: Demyelinating diseases of central nervous system (CNS) are a broad spectrum of conditions with autoimmune process against myelin. In a resource limited country like India, it is imperative to perform proper clinical evaluation, neuroimaging to differentiate among various categories of CNS demyelinating diseases to decide regarding further workup and treatment. The objective of our study was to determine clinical presentation, imaging findings, serology results, diagnosis, and treatment outcome of primary demyelinating disorders of CNS. Materials and Methods: In this prospective study, a total of 44 patients were enrolled over a period of 1 year. After proper evaluation, patients were categorized into different groups applying newer diagnostic criteria. Patients were treated with steroids, appropriate immunomodulatory therapy, and outcomes were analyzed. Results: The majority of cases were of neuromyelitis optica spectrum disorder (NMOSD) (45.5%) with an overall female-to-male ratio of 3.4:1 and mean age of presentation was 30.5 ± 11.15. Myelitis (52.3%) followed by optic neuritis (45.5%) was the most common initial presentation. The most common site of involvement on magnetic resonance imaging was the spinal cord (particularly the cervicodorsal cord). The majority showed good response to therapy (77.27%) and two patients did not survive. Conclusion: Higher disability observed among seropositive NMOSD patients warrants aggressive treatment during the first attack itself. It is important to suspect myelin oligodendrocyte glycoprotein antibody disease in patients with preceding viral infection. A good outcome in the majority is likely due to the availability of serological assays and aggressive immunomodulatory therapy.

A Study on Neurological Manifestations in Coronavirus Disease 2019 Patients Admitted to a Tertiary Care Hospital.

AIM: The coronavirus disease 2019 (COVID-19) is considered a pandemic by the World Health Organization (WHO). Although diffuse alveolar damage and acute respiratory failure are the main features of COVID-19, the involvement of other organs needs to be explored. Thus, this study is undertaken to analyze the neurological manifestations in patients with COVID-19 infection. To analyze the neurological manifestations in patients with COVID-19 infection. MATERIALS AND METHODS: All COVID-19-positive patients who got neurology referrals from March 2020 to June 2021 were included in the study. Laboratory confirmation of COVID-19 infection was done by real-time reverse transcriptase-polymerase chain reaction (RT-PCR) of throat swabs in patients who present with symptoms suggestive of COVID-19. Demographic characteristics, neurological complaints, comorbid conditions, neurological examination, and requisite investigations were analyzed. RESULTS: Among 160 patients, 107 (67%) were men, and the mean age was 61 years. Comorbidities included diabetes mellitus (51%) of subjects followed by hypertension (28%), chronic kidney disease (10%), and coronary artery disease (5%). Considering the COVID-19 severity, 28.75% had mild; 8.75% had moderate; and 62.5% had severe disease. The most common neurological symptoms included altered sensorium (62.5%), focal neurological symptoms (29.4%), anosmia (13.1%), headache (10.6%), and seizures (7.5%). The most prevalent neurological signs and/or syndromes were acute encephalopathy (62.5%), stroke (21.3%%), and mucormycosis (12.5%). The mortality rate in our study population was 16.3%, encephalopathy being the most common cause. CONCLUSION: In our study, encephalopathy was the major cause of morbidity and mortality among the COVID-19-related neurological manifestations. Encephalopathy was most seen in severe COVID-19 infection and was associated with increased neutrophil-to-lymphocyte (NL) ratio raised inflammatory markers. Stroke constituted 29.4% of the neurology referrals in COVID-19 patients confirming COVID-19 infection predisposes to thrombotic events. We found an increased incidence of Mucormycosis in COVID-19 patients, but early debridement and timely treatment with antifungal medications had reduced the mortality.

Spinocerebellar ataxia 46 in a young female.

Spinocerebellar ataxias (SCAs) are a group of both clinically and genetically heterogeneous neurodegenerative disorders. SCA 46 is a rare autosomal dominant ataxia initially described in a Dutch family, clinically characterized by ataxia, peripheral neuropathy, cerebellar dysarthria, and varied oculomotor abnormalities. SCA 46 has recently been discovered to be associated with a mutation in phospholipase D 3 gene.

AMAN with Ophthalmoparesis: A Rare Presentation.

Acute motor axonal neuropathy (AMAN) is a variant of Guillain-Barré syndrome (GBS), characterized by acute areflexic flaccid quadriparesis with motor axonal changes and absence of demyelinating findings in electrophysiological studies. A 30-year-old man presented with acute onset flaccid type of weakness involving all four limbs, along with drooping of eyelids. Examination revealed ptosis with restricted horizontal and vertical eye movements. Spinomotor system examination revealed acute flaccid areflexic quadriparesis. Nerve conduction studies (NCS) showed features suggestive of motor axonal neuropathy changes. Cerebrospinal fluid (CSF) revealed albuminocytological dissociation. The diagnosis of AMAN was made, and the patient was treated with intravenous immunoglobulin (IVIg). His weakness gradually improved over 1 month, with partial improvement in ptosis and eye movements. This case highlights the occurrence of ophthalmoparesis in the AMAN variant of GBS. The presence of ophthalmoparesis and areflexia makes it necessary to exclude Miller-Fisher syndrome. But, the presence of axonal changes in nerve conduction study and the profound weakness with negative serum anti-GQ1b antibody profile, supports the diagnosis of AMAN. How to cite this article: Budumuru U, Muralidharan K, Sowmini PR, et al. AMAN with Ophthalmoparesis: A Rare Presentation. J Assoc Physicians India 2023;71(11):103-104.

See-Saw Relationship and its Reversal after Immunotherapy in a Case of Graves' Disease with Coexisting Myasthenia Gravis.

The unique association of myasthenia gravis (MG) with Graves' disease in clinical practice emphasizes that one autoimmune disease can coexist with another or many. The relationship between these two entities has remained controversial till date. Some authors have reported a see-saw relationship between these two entities, MG waning with hyperthyroidism and waxing with treatment of hyperthyroidism. Treatment of both these disorders concurrently may be challenging at times as treatment for one entity may worsen the other. The use of beta-blockers and steroids for Graves' disease may worsen myasthenic weakness. Antithyroid drugs can worsen myasthenia probably by immunomodulatory effects. We report a case of Graves' disease coexisting with MG in a reciprocal relationship which was subsequently reversed after immunotherapy.

Uncommon presentation of a common disorder.

We report about a young male who presented with generalized muscle stiffness, involving the limb, facial, and paraspinal muscles. The stiffness was severe enough to restrict all his daily activities, progressively increased with movements and also produced recurrent falls. This clinical picture resembled one of stiff person syndrome. As he had hypertrophy of calf muscles and generalized muscle tautness he was evaluated for other disorders which can resemble stiff person syndrome. Investigations revealed severe hypothyroidism with thyroid antibodies being elevated. This case is reported to highlight the fact that myopathy as a presenting manifestation of hypothyroidism can simulate stiff person syndrome. It is essential to identify the condition early as it recovers fully with treatment. Our patient responded well to thyroid replacement therapy and was able to lead a normal life.