A Prospective Observational Study of Autoimmune Encephalitis in Northwestern India.

OBJECTIVES: Autoimmune encephalitis (AIE) is a group of rare, increasingly recognized, potentially reversible, noninfectious causes of unexplained encephalitis. It affects any age-group and has a plethora of clinical presentations, the most common being the neuropsychiatric manifestation. The diagnosis of this entity at the right time and proper treatment with immunotherapy can save many lives. In this study, we describe the demographic profile, clinical spectrum, diagnosis, and treatment of 42 patients with features of AIE. MATERIALS AND METHODS: This is a prospective study where 42 cases were selected from a tertiary care center in Northwestern India. Patients with suspected AIE underwent detailed clinical assessment, routine blood tests, magnetic resonance imaging (MRI) brain, electroencephalography (EEG), cerebrospinal fluid (CSF) study, and autoimmune profile in blood and CSF. Screening for malignancy was done in all patients with computer tomography (CT) thorax and abdomen and tumor markers. RESULTS: Among 42 patients, males, and females were almost equally affected. The mean age of onset was 31 years. Anti-N-methyl-D-aspartate receptor (anti-NMDAR) Encephalitis was the commonest of all AIE (57%) followed by anti-leucine-rich glioma inactivated-1 (anti-LGI-1) related AIE (11.9%), anti-contactin-associated protein 2 (anti-CASPR2) related AIE (4.7%), and steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT) related to antithyroid peroxidase (anti-TPO) antibody (2.3%). Neuropsychiatric manifestation is the commonest. The seizure was noted in around 72% of patients, the commonest in the anti-NMDAR group. Faciobrachial dystonic seizure (FBDS) was noted in all five anti-LG1-1 encephalitis patients. CSF abnormalities were seen in 33.3% of patients in the form of pleocytosis or raised protein, or both. MRI abnormality was seen in 52% of patients. EEG was abnormal in 10% of patients, and delta brush was noted in three anti-NMDAR patients. All patients received immunotherapy in the form of intravenous immunoglobulin (IVIg) or pulse IV methylprednisolone (IVMPS), or both. Two patients nonresponsive to IVIg and IVMPS received rituximab. Almost all patients responded to immunotherapy. CONCLUSION: Autoimmune encephalitis (AIE), a potentially treatable immune-responsive entity, is a common neurological problem and may be an answer to a large number of cases having unexplained encephalitis. Good clinical acumen and knowledge are required for early diagnosis and treatment of this potentially reversible disorder. How to cite this article: Sharma B, Paul M, Bagaria AK. A Prospective Observational Study of Autoimmune Encephalitis in Northwestern India. J Assoc Physicians India 2023;71(9):39-44.

Neuroborreliosis in India - A Diagnostic Challenge and a Great Mimicker: A Case Series.

OBJECTIVES: Neuroborreliosis is generally known to be a disease confined to the Western part of the globe. It is not commonly encountered in this part of the world. Interestingly, we recently came across a series of cases of Lyme's disease with a plethora of neurological presentations. Most of the cases were a diagnostic dilemma, with poor response to immunotherapy and on subsequent evaluation all were found to have positive Borrelia antibodies. MATERIALS AND METHODS: Eight cases were selected from the tertiary care hospital in North western India. Patients were suspected to have Neuroborreliosis whose neurological presentations were atypical for other classical neurological disorders, who had a progressive or relapsing clinical course and had responded poorly to the initial treatment given for the previous neurological diagnosis. Skin lesions were present in some cases. The patients underwent a detailed clinical assessment which comprised of an elaborate history including history of travel, any insect bite or skin rashes along with a complete systemic and neurological examination. All the required blood investigations, Magnetic Resonance Imaging (MRI) Brain, Computer Tomography Angiography (CT), Nerve conduction study (NCS) and Electromyographic (EMG) studies and Cerebrospinal fluid (CSF) studies were done as indicated in each case. Borrelia antibody titre was done in all the patients using immunoblot technique. RESULTS: Among the 8 patients, 6 were male and 2 were females. The age group was between 25-70 years. The clinical presentation was acute, subacute or chronic. One patient gave a clear history of tick bite. Two patients had skin lesions and one had the pathognomic "eschar". All the suspected 8 patients had either IgG or IgM or both IgG and IgM Borrelia antibodies positive. Almost all the patients had previously received either steroids or intravenous immunoglobulins, but had not adequately responded to immunotherapy. These patients were given a trial of injectable Ceftriaxone and oral Doxycycline. Most of them either showed partial or complete clinical improvement. CONCLUSION: Lyme's disease, a common disease of the west does exist in the Indian subcontinent as well. Because of increasing global travel and migration and change in vector habitat the disease seems to have percolated in the non endemic areas too. Proper history of travel or exposure to tick bite is important. We want to emphasize, Neuroborreliosis, a great mimicker may have diverse and varied neurological presentations and has a potential for reversibility with appropriate treatment even after a significant delay in diagnosis.

Morvan's syndrome with anti contactin associated protein like 2 - voltage gated potassium channel antibody presenting with syndrome of inappropriate antidiuretic hormone secretion.

Morvan's syndrome is a rare autoimmune disorder characterized by triad of peripheral nerve hyperexcitability, autonomic dysfunction, and central nervous system symptoms. Antibodies against contactin-associated protein-like 2 (CASPR2), a subtype of voltage-gated potassium channel (VGKC) complex, are found in a significant proportion of patients with Morvan's syndrome and are thought to play a key role in peripheral as well as central clinical manifestations. We report a patient of Morvan's syndrome with positive CASPR2-anti-VGKC antibody having syndrome of inappropriate antidiuretic hormone as a cause of persistent hyponatremia.

An update on Spino-cerebellar ataxias.

The dominantly inherited ataxias, also known as Spino-cerebellar ataxias (SCAs), are rapidly expanding entities. New mutations are being identified at remarkable regularity. Recent awareness of molecular abnormalities in SCAs has addressed some of the long sought questions, but gaps in knowledge still exist. Three major categories of SCAs, according to molecular mechanisms, have evolved over recent few years: Polyglutamate expansion ataxia, non-coding zone repeat ataxia, and ataxia due to conventional mutation. Using the fulcrum of these mechanisms, the article provides an update of SCAs. Shared and specific clinical features, genetic abnormalities, and possible links between molecular abnormalities and cerebellar degeneration have been discussed. Emphasis has been placed on the mechanisms of polyglutamate toxicity.

Unusually prominent horizontal gaze palsy in a case of Niemann-Pick type C disease.

Niemann-Pick Type C disease (NPC) is a rare inherited metabolic disorder characterized by lipid accumulation and systemic manifestations due to multiple organ involvement. Only a few cases of NPC have been reported so far from India. Varying presentations and often lack of access to complex diagnostic tests have leaded to initial misdiagnosis on few occasions. We here report a provisionally diagnosed case of NPC with prominent horizontal gaze palsy along with characteristic vertical gaze palsy and normal findings on microscopic examination of skin biopsy specimen.