Clinical Characteristics, Etiology, Recanalization Rates and Neurological Outcomes in CVT: A Prospective Cohort Study.

Background: Recanalization rates in cerebral venous thrombosis (CVT) and its effect on neurological outcome have been debated worldwide and are inadequately addressed in studies from India. Our objective was to study the clinical profile of CVT and determine recanalization rates with its predictors and its effect on outcome. Methods: A prospective single centre cohort study on 101 patients with radiologically confirmed acute CVT between October 2018 and June 2021 was conducted. Anticoagulation was given for 3-12 months or lifelong for thrombophilias. Recanalization status of vessels was assessed between 3-6 months and at 12 months after ictus. Outcome was defined as favorable (mRS 0-1) or unfavorable. Patients with atleast one CT/MR venogram on follow up were included. Results: Of the 101 enrolled patients, 83 completed study protocol. Mean age of patients was 34.2 ± 11.7 years. Clinical characteristics included headache (75.9%),seizure (66.2%), altered mentation(20.4%) with clustering of cases during summers. Transverse- sigmoid sinuses were predominantly involved (66.2 %) followed by superior sagittal sinus (SSS,65.0%).Commonest etiologies were thrombophilia (27.7%) and postpartum state (15.6%). Complete recanalization was achieved in 67.4%, partial in 26.5% and no recanalization in 6.02% at end of 12 months. Recanalization rates improved from 83.09% between 3-6 months to 93.9 % at 12 months. Median time to last follow-up was 12months and at last follow up 95.1% had favorable mRS with recurrence in two patients with raised factor VIII levels. Conclusion: Recanalization occurred in more than 90% of CVT patients. Isolated superior sagittal sinus thrombosis and age <50 years were predictors of complete recanalization. Most patients, except few achieved a favorable mRS.

Comparison of Clinical and Radiological Features of Aquaporin4 (AQP-4) Antibody Positive Neuromyelitis Optica Spectrum Disorder (NMOSD) and Anti Myelin Oligodendrocyte Glycoprotein (Anti-MOG) Syndrome-Our Experience from Northwest India.

Background: More and more cases of myelin oligodendrocyte glycoprotein (MOG) antibody are being diagnosed with the availability of laboratory tests helping us to know the differing patterns from AQP-4 antibody disease and we need to understand the natural course, treatment, and prognosis in a better way. Objectives: Neuromyelitis optica spectrum disorder (NMOSD) and anti-MOG syndromes are immune-mediated inflammatory demyelinating conditions of the central nervous system (CNS) that mainly involve the optic nerves and the spinal cord. We conducted this study to compare demographic, clinical, laboratory, and radiological features of AQP-4 antibody and MOG antibody positive patients. Methods: A single-centre retrospective observational study from a large tertiary care university centre of Northwest India conducted during 2019--2021. We screened all patients presenting with acute CNS demyelinating attacks and recruited total 47 patients of which 25 were positive for AQP4 antibody and 22 were positive for MOG antibody. No patient tested positive for both antibodies. Data were collected using a standardized format including demographic, clinical, laboratory, and neuroimaging data. Results: In our study, total 47 patients were included, amongst which 25 patients were AQP4 antibody and 22 patients were MOG antibody positive. Though there was no gender preponderance, pediatric patients were more frequently affected in MOG antibody positive group. In AQP-4 antibody positive patients, myelitis was most common presenting clinical feature followed by optic neuritis (ON), simultaneous ON with myelitis, and brainstem syndrome. In MOG antibody positive group, myelitis was the commonest phenotype followed by ON, brainstem syndrome, and cerebral syndrome. The neuroimaging revealed involvement of medulla mainly area postrema, cervicodorsal spinal cord and extension of cervical lesion up to brainstem more commonly in AQP4 antibody group, on the other hand involvement of upper brainstem (midbrain and pons), cortex, and conus was more common in MOG antibody group. Conclusion: We have made an attempt to find differentiating features in AQP-4 vs. MOG antibody positive cases but they were of no statistically significance value as the numbers were small. Further larger studies may prove helpful in planning better strategies in two groups.

Isolated Acute Cerebrovascular Involvement in COVID-19 without Fever and Respiratory Symptoms: An Indian Perspective.

BACKGROUND: Stroke in COVID-19 has been reported in critically ill patients globally. Stroke as a singular manifestation of COVID-19 in absence of typical symptoms (fever, cough and dyspnea) is under- recognized. OBJECTIVE: Comparative study of clinical and laboratory parameters of COVID-19 stroke patients without typical symptoms at onset with stroke cases without COVID-19 infection. METHODS: 28consecutive stroke patients, eight with coronavirus infection and twenty without COVID-19 admitted to neurology department of a tertiary care centre of North West India between 20 June,2020 and 19 July,2020 were enrolled in this retrospective study. RESULTS: COVID-19 patients had higher frequency of seizures (4[50%]) vs 2[10%];p= 0.03)and altered mental status(6[75%] vs 6[30%] p= 0.04). Severity of ischemic stroke(NIHSS >20, 3[75 %] vs 2[18%])and mortality(p=0.04)despite comparable vascular risk factors for stroke between the two groups was higher in COVID-19 patients. Three out of four COVID-19 young strokes died. Two females with COVID-19 did not develop any typical symptoms, six males(75%) developed fever with dyspnea after a mean delay of 2.7 days(Standard deviation 1.7) from stroke onset. All six patients who developed fever subsequently expired. Inflammatory markers (neutrophil to lymphocyte ratio;p<0.001and ESR: p<0.001), transaminases(p=0.038) and creatinine (p=0.009) were significantly elevated in COVID-19 patients. CONCLUSION: Isolated cerebrovascular involvement can be a presentation of COVID-19.Stroke severity and mortality is higher in COVID-19 with young strokes being no exemption. Development of fever was associated with clinical worsening. COVID-19 pandemic is far from over in India, such atypical presentations need to be recognized early and warrant stringent diagnostic protocols.

Guillain-barre Syndrome in Indian Population: A Retrospective Study.

OBJECTIVES: To study clinical characteristics of various forms of Guillain-Barre syndrome in Indian adults. MATERIAL AND METHODS: The epidemiological, clinical, cerebrospinal fluid and electrophysiological data of 65 patients of Guillain-Barre syndrome (GBS) were reviewed in a retrospective study. RESULTS: Analysis of age distribution disclosed a high incidence (36.92%) in young adults between 18 to 29 years of age. Seasonal preponderance in winter and summer was found. Preceding events were identified in 22 (33.84%) cases. Motor weakness, areflexia, and facial weakness were the most common clinical features. Cerebrospinal fluid albuminocytological dissociation was present in 80% of patients. Utilising clinical and electrophysiological data, these 65 patients with Guillain-Barre syndrome were subclassified as acute demyelinating polyradiculoneuropathy 17 (26.15%), axonal form 17 (26.15%), Fisher's syndrome 2 (3.07%)and ataxic variant 1(1.53). The remaining 28 (43.07%) patients were unclassified. 9(13.8%) patients had recurrent GBS. Only 5 (7.7%) patients required mechanical ventilation. Follow up available on 47 patients disclosed that all of them recovered satisfactorily. No patient was persistently disabled and no mortality occurred during hospitalization. CONCLUSIONS: GBS in Indian population from northwest India showed peculiar age, seasonal distribution and high frequency of both AIDP and axonal subtypes. Both, axonal and demyelinating subtypes shared common clinical features and had good prognosis.

Tumefactive demyelinating lesions (TDLs): A case series of clinicoradiological features.

OBJECTIVE: Diagnosis of tumefactive demyelination lesions (TDLs) is challenging to neurophysician, neuroradiologist or neurosurgeon. Our objective in this study was to analyze clinicoradiological features of TDLs. PATIENTS AND METHOD: A retrospective analysis with prospective follow-up of 11 cases of TDLs was performed. Study was conducted in the neurology department of a tertiary care centre of North-West India from August 2014 to March 2017. MRI of brain and cervical spine with contrast, visual evoked potential, oligoclonal bands, serum anti-AQP4 antibody and MRS performed in most of the patients. RESULTS: Mean age of tumefactive demyelinating lesions was 19.63 years (10-41) with male preponderance (M: F=1.4) and one of the patients was in a pediatric age group. Relapsing and demyelinating courses of disease, seizure and incomplete ring enhancement were found in 6 out of 11(54.5%), 4 out of 11 (36.3%) 3 out of 11(27.2) respectively. OCBs were positive in 4 out of 5 patients (80%). CONCLUSION: Recognition of atypical presentation or clinicoradiological features would aid in diagnosis along with visual evoked potential, oligoclonal bands and responsiveness to steroids may obviate the need for invasive procedure like brain biopsy.

Malignant transformation in a case of megalencephalic leukoencephalopathy with subcortical cysts: An extreme rarity in a rare disorder.

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive inherited disorder characterized by macrocephaly, progressive motor disability, seizures, mild cognitive decline, slow progression, and typical magnetic resonance imaging (MRI) findings. Age of onset of symptoms is described from birth to 25 years. Late onset presentation is very rare, only few cases have been reported worldwide. Most important clue for diagnosis is the characteristic MRI changes that include diffuse involvement of subcortical white matter mainly in frontoparietal region with relative sparing of central white matter along with subcortical cysts mostly in anterior temporal region. Cysts are usually benign and slowly progressive. Malignant transformation of cysts has not been reported as yet. We herein report a very unusual and probably the first case of MLC who presented to us in a unique manner with late onset and malignant transformation of cyst in left temporal region leading to rapid neurological decline. This case report highlights a possible life-threatening complication of a previously known slowly progressive disease warranting urgent neurosurgical intervention.

Periodic electroencephalogram discharges in a case of Lafora body disease: An unusual finding.

Lafora body disease (LBD) is a form of progressive myoclonic epilepsy, characterized by seizures, myoclonic jerks, cognitive decline, ataxia, and intracellular polyglucosan inclusion bodies (Lafora bodies) in the neurons, heart, skeletal muscle, liver, and sweat gland duct cells. Electroencephalogram (EEG) findings in LBD may include multiple spikes and wave discharges, photosensitivity, multifocal epileptiform discharges, and progressive slowing in background activity. Periodicity in epileptiform discharges has not been frequently depicted in LBD. We herein report an unusual case of LBD who showed generalized periodic epileptiform discharges in EEG.

Longitudinally extensive transverse myelitis: A retrospective analysis of sixty-four patients at tertiary care center of North-West India.

OBJECTIVES: To evaluate the demographic profile, clinical presentations, laboratory parameters and etiologies of longitudinally extensive transverse myelitis (LETM) patients in Indian population. PATIENTS AND METHODS: LETM is characterized by contiguous inflammatory lesions of spinal cord extending to three or more vertebral segments. Neuromyelitis optica (NMO) is the most common cause of LETM. In clinical practice, both LETM and NMO are thought to be synonymous with each other because of their very frequent association. Other causes of LETM are infective, neoplastic, autoimmune diseases and connective tissue disorders. All other causes should be ruled out before making the diagnosis of NMO in LETM patients. We conducted a retrospective study from August 2010 to February 2016 and analyzed various demographic profile, clinical presentations, laboratory parameters and etiologies in sixty-four patients of LETM. RESULTS: In our series, majority of the patients presented with acute bladder dysfunction and paraparesis. Twenty-one patients (32.81%) were clinically diagnosed as NMO, out of which thirteen patients were found to have positive serum NMO antibody. Other etiologies of LETM in our series were multiple sclerosis [9 patients], acute disseminated encephalomyelitis (ADEM) [6 patients], postinfectious [5 patient], subacute combined degeneration (SCD) [4 patient], tuberculous myelitis [4 patients], spinal arteriovenous malformation (AVM) [3 patient] and systemic lupus erythematosus (SLE) [3 patient], respectively. In nine patients, cause could not be ascribed despite thorough investigations. CONCLUSION: LETM is a heterogeneous disorder with a varied clinical feature, etiologies and outcome. Even the LETM patients who presented with optic neuritis do not necessarily have NMO. Therefore, the diagnosis of NMO should be made only after excluding other causes of LETM. The presence of NMO-Ab (Aquaporin 4-Ab) predicts the increased risk of recurrence of LETM or conversion to NMO.

Lower limb onset Parry-Romberg syndrome: an unusual presentation of a rare disease.

Parry-Romberg syndrome (PRS) is characterized by progressive degeneration and atrophy of the cutaneous, subcutaneous connective tissues, muscles and bones. Classically, PRS is restricted to unilateral face but in 20% of patients may extend to other parts of the body including ipsilateral or contralateral arms, trunk and legs. We report a case of 24-year-old male who presented with insidious onset, gradually progressive deformity and muscle wasting of right lower limb followed by right side of face and chest for 8 years. The right side of the face showed hemiatrophy, coup de sabre and deviation of nose and chin toward the same side. The magnetic resonance imaging showed atrophy of right lower limb. Computed tomography with 3D facial reconstruction revealed atrophy of facial bones on right side. He was managed with physiotherapy and symptomatic treatment and planned for facial and ankle reconstructive surgery on follow-up.

Medullary Hot-Cross Bun Sign in Multiple System Atrophy-Cerebellar.

Multiple-system atrophy (MSA) is a progressive neurodegenerative disorder. It is characterized by dysfunction of multiple systems including autonomic, extrapyramidal, pyramidal and cerebellar. Pontine hot-cross bun (HCB) sign in MSA is a well-documented and highly specific entity. To the best of our knowledge, medullary hot-cross bun (HCB) sign has never been described in literature. Herein, we report a case of MSA-C with medullary HCB sign. Detection of medullary HCB sign might be a surrogate marker in the diagnosis of MSA-C, particularly in the absence of classical pontine HCB sign; however, further research will help to validate this sign.

Kleine-Levin syndrome with comorbid iron deficiency anemia.

Kleine-Levin syndrome (KLS) is a rare chronic sleep disorder of unknown etiopathology, which typically occurs in adolescent males. Although the severity of symptoms and disease course varies between the KLS patients, it usually resolves spontaneously, but sometime comorbid conditions may worsen the symptoms. Herein, we report a case of KLS who presented with severe episodic hypersomnia. During episodes, the patient used to sleep as long as 20 h in a day, affecting his daily living activities. All the relevant investigations including electroencephalography, magnetic resonance imaging of brain and cerebrospinal fluid analysis were normal except for severe iron deficiency anemia (IDA). In our patient, the severity of symptoms worsened due to coexistent IDA. The treatment of IDA along with modafinil decreased the severity of symptoms and shortened the hospital stay during episodes. This might be the first case report of KLS with comorbid IDA.

A rare association of tuberculous longitudinally extensive transverse myelitis (LETM) with brain tuberculoma.

BACKGROUND: Longitudinally extensive transverse myelitis is characterized by contiguous inflammatory lesion of spinal cord involving three or more spinal segments. It is a well-recognized but rare presentation of Mycobacterium tuberculosis infection. CASE DESCRIPTION: We report a case of young boy diagnosed with multiple brain tuberculomas. He was on antitubercular drugs therapy for 2 months and became asymptomatic. On 2-month followup visit, the patient complained of acute onset progressive sensorimotor, spastic paraparesis with bladder dysfunction. Magnetic resonance imaging of spine showed longitudinally extensive transverse myelitis extending from thoracic spinal segment T2 to T10 level. He was treated with high dose intravenous methylprednisolone therapy and continued on combination of first line four antitubercular drugs. At 6-month followup, patient was able to walk with support. In our patient, clinical features, previous history of brain tuberculoma and spinal neuroimaging confirmed the diagnosis of tuberculous myelitis. The new onset longitudinally extensive transverse myelitis in our patient was may be related to paradoxical response to antitubercular therapy. CONCLUSIONS: Our case highlights that tubercular infection might be an important but overlooked cause of longitudinally extensive transverse myelitis. Therefore, clinicians should have a high index of suspicion to diagnose this potentially treatable cause especially in high-risk conditions like tuberculosis endemic areas, associated brain tuberculosis and HIV infection. Our case is unique because of paradoxical presentation of longitudinally extensive transverse myelitis in cranial tuberculomas, already on antitubercular treatment.

Familial segmental spinal myoclonus: a rare clinical feature of Friedreich's ataxia.

INTRODUCTION: Friedreich's ataxia (FRDA) is the most common autosomal recessive inherited ataxia. It is characterized by onset before the age of 25 year, progressive limb and truncal ataxia, lower limb areflexia, extensor plantars, dysarthria and impaired posterior column sensations. Other important associated features are skeletal deformity, hypertrophic cardiomyopathy and diabetes mellitus. Most of the patients (98%) have an unstable homozygous trinucleotide (GAA) expansion in intron-1 of chromosome 9 and 2% patients are compound heterozygous for GAA expansion and point mutations. CASE DESCRIPTION: We observed an adolescence onset FRDA exhibiting spinal segmental myoclonus (SSM) in a family. Triplet repeat primed polymerase chain reaction (TP-PCR) demonstrated unstable expansion of >66 GAA repeats. CONCLUSIONS: SSM is a unique and rare manifestation of FRDA. This might be the first case report of SSM in FRDA patient.

An unusual case of dengue infection presenting with hypokalemic paralysis with hypomagnesemia.

Neurological manifestations are unusual in dengue fever and can be due to neurotropic effect, systemic complications of dengue infection, or immune mediated. Acute hypokalemic paralysis is a rare systemic complication of dengue infection; however, hypokalemia along with hypomagnesemia has not been reported earlier. We herein report an extremely unusual and probably the first case of dengue infection in a 30-year-old male who presented to us with hypokalemic paralysis along with hypomagnesemia. This case report highlights that hypomagnesemia may be a significant complication in dengue infection. Correction of hypomagnesemia is of paramount importance to avoid refractory hypokalemia leading to severe consequences.

Ocular cysticercosis with vitreous hemorrhage: a rare complication of a common disease.

INTRODUCTION: Cysticercosis, a helminthic infestation caused by Taenia solium, can produce central nervous system, muscles, visceral, subcutaneous tissues and skin manifestations. Ophthalmological involvement can affect eyelids, conjunctiva, anterior chamber, uvea, vitreous, retina, extraocular muscles and optic nerve. Simultaneous co-occurrence of intracranial and intraocular cysticercosis is a common presentation in clinical practice. CASE DESCRIPTION: We report a case of young girl who was diagnosed with multiple intracranial neurocysticercosis lesions and was on antiepileptic drugs, following which she presented with progressive painless vision loss from both the eyes. Indirect ophthalmoscopic examination showed evidence of subretinal cysts, retinal hemorrhage and retinal detachment in both the eyes. Surprisingly, bilateral vitreous hemorrhage was also detected. Ocular B-scan ultrasonography, orbital MRI and computed tomography revealed retinal detachment with vitreous hemorrhage in both the eyes. Magnetic resonance imaging (MRI) of brain showed multiple intraparenchymal small cystic lesions in bilateral cerebral and cerebellar hemispheres, basal ganglia, thalami and brainstem. CONCLUSIONS: Vitreous and retinal detachment are well known complications of intraocular cysticercosis, however, vitreous hemorrhage as preoperative feature has never been reported before, although vitreous hemorrhage as postoperative complication is common.

Longitudinally extensive transverse myelitis as presenting manifestation of small cell carcinoma lung.

Longitudinally extensive transverse myelitis (LETM) is an unusual manifestation of systemic malignancy. It has been mainly reported with lung cancers and lymphoproliferative malignancy. LETM in systemic malignancy can be caused by either intramedullary metastases or paraneoplastic syndrome. We report an unusual case of small-cell carcinoma lung, who presented with LETM without having any cardinal manifestations of lung malignancy. This case report highlights the important differentiating features between intramedullary metastasis and paraneoplastic syndrome.