Dentate calcifications with palatal tremor and facial myorhythmia in adult-onset Cerebral X-linked Adrenoleukodystrophy.

Adrenoleukodystrophy is the most common peroxisomal disorder of beta oxidation with highly complex clinical presentation across different ages of life challenging the diagnostic skills of neurologists. We report a 35-year-male with orbitofrontal lobar dysfunction, spastic paraparesis, cerebellar ataxia and characteristic perioral and palatal tremor with dentate nuclei calcification in imaging.

Dentate calcifications with palatal tremor and facial myorhythmia in adult-onset cerebral X-linked adrenoleukodystrophy.

Adrenoleukodystrophy is the most common peroxisomal disorder of beta oxidation with highly complex clinical presentation across different ages of life challenging the diagnostic skills of neurologists. We report a 35-year-male with orbitofrontal lobar dysfunction, spastic paraparesis, cerebellar ataxia and characteristic perioral and palatal tremor with dentate nuclei calcification in imaging.

Effects of stroke nurse-led acute stroke management on treatment time benchmarks, intravenous thrombolysis rates, and patient outcomes: A systematic review and meta-analysis.

Introduction: Multidisciplinary stroke teams, including a stroke nurse, prove effective in delivering optimal acute ischemic stroke (AIS) management. This systematic review and meta-analysis critically synthesize existing studies to assess the impact of stroke nurse involvement on treatment time benchmarks and patient outcomes.

Method: Data from various databases constituted the primary sources of literature, and the risk of bias and article quality were evaluated using relevant tools.

Socioeconomic Risk Factors in Neurocysticercosis.

NCC is responsible for around 30% of active epilepsy in endemic countries such as India. Knowing socioeconomic factors associated with NCC can help in decreasing the incidence of this disease. We intend to study socioeconomic risk factors in NCC patients and how these factors are different from patients without NCC.

Establishing continuum in Transcranial Doppler characteristics of IIH, migraine and healthy controls- An exploratory study.

Background: IIH is a severe form of headache that often has superimposed migraine and often it is very difficult to distinguish the two forms of headache. Intracranial hemodynamics is a relatively unexplored means of distinguishing between the two forms of headache.

Objectives: We aimed to study intracranial flow dynamics using Transcranial Doppler in patients with IIH, migraine, and normal controls.

The Neuro-Ophthalmology of Tuberculosis.

Tuberculosis (TB) is a global health concern and central nervous system (CNS) TB leads to high mortality and morbidity. CNS TB can manifest as tubercular meningitis, tuberculoma, myelitis, and arachnoiditis. Neuro-ophthalmological involvement by TB can lead to permanent blindness, ocular nerve palsies and gaze restriction.

The Role of Genetic Analysis in Demystifying the Diagnosis in a Middle-Aged Male Presenting With Proximal Muscle Weakness and Sclerotic-Lytic Skeletal Lesions.

Paget's disease of bone (PDB) usually presents with bone pain and deformities. Herein, we describe a case of PDB who presented with gradually progressive quadriparesis. A man in his forties presented with gradually progressive proximal muscle weakness involving all four limbs.

Endoscopic Ultrasound-Guided Transgastric Shunt Obliteration for Recurrent Hepatic Encephalopathy.

Introduction: Occlusion of spontaneous portosystemic shunts (SPSSs) in patients with cirrhosis may be required in recurrent or refractory hepatic encephalopathy. We describe a novel method for occlusion of SPSS using endoscopic ultrasound (EUS).

Methods: EUS-guided transgastric shunt obliteration was performed by injecting glue and coils directly into SPSS.

Clinical Profile of Patients with Leber Hereditary Optic Neuropathy (LHON): An Ambispective Study of North Indian Cohorts.

Background: Leber hereditary optic neuropathy (LHON) is a maternally inherited disease resulting in irreversible visual loss usually in patients belonging to the age group of 15-35 years. Clinically, the patients present with sequential or bilateral, painless, progressive visual loss with central (or ceco-central) scotomas. Although the three mutations, namely, G11778A, T14484C, and G3460A contribute to >95% of LHON cases globally, the relative frequency of each mutation varies.

Oculomotor Cranial Neuropathies: Diagnosis and Management.

Ocular nerve palsies are among the most common cranial neuropathies in neurological practice. Nerves can get affected anywhere along their path from the brainstem to the orbit. There can be isolated involvement of multiple cranial nerves together.

The Genetics of Ethambutol-Induced Optic Neuropathy: A Narrative Review.

Tuberculosis (TB) is a global health problem with the major brunt of disease occurring in developing countries. The cornerstone of treatment of TB is anti-tubercular therapy (ATT), which includes rifampicin, isoniazid, pyrazinamide and ethambutol. Because of emerging drug resistance, treatment failures, defaulters and increasing incidence of disseminated and extrapulmonary TB, the guidelines have been modified in some countries.

A study on neurcognitive disorders and demographic profile of neurocysticercosis patients.

Background: Neurocysticercosis is a common cerebral parasitic infestation, caused due to pork tapeworm infection the infestations risks parallels the socio-economic status, personal hygiene and education. The effect of NCC was assessed in neurocognition.

Objective: To study demographic characteristics and neurocognitive domains of patients with Neurocysticercosis.

Mimics of Optic Neuritis in Neuromyelitis Optica Spectrum Disorder: A Case Report.

The optic nerve can be involved in a myriad of pathologies underscoring the importance of ruling out both surgical as well as medical causes. Often, it is the temporal profile, clinical presentation and imaging that helps to establish the final diagnosis. Neuromyelitis optica spectrum disorder (NMOSD) is an inflammatory demyelinating disorder involving the optic nerves and the spinal cord, which if promptly and adequately managed, may yield gratifying outcomes.

Infectious ophthalmoplegias.

Though infections account for a significant proportion of patients with ocular motor palsies, there is surprising paucity of literature on infectious ophthalmoplegias. Almost all types of infectious agents (bacteria, viruses, fungi and parasites) can lead to ocular motor palsies. The causative infectious agent can be diagnosed in most cases using an orderly stepwise approach.

Presence of allele CYP3A4*16 does not have any bearing on carbamazepine-induced adverse drug reactions in North Indian people with epilepsy.

Objectives: The objectives of this study were to determine the relationship between genetic polymorphisms in gene encodings for CYP3A4 and carbamazepine (CBZ)-induced dose-related side effects in North Indian people with epilepsy.

Patients And Methods: The current prospective study included 37 patients with CBZ-induced dose-related side effects and 102 patients who did not experience side effects while on CBZ. The genotyping for CYP3A4 allele (CYP3A4*16) was done using real-time polymerase chain reaction (RT-PCR) in Applied Biosystems 7500 RT-PCR System (USA).

Magnetic resonance imaging (MRI) versus computed tomographic scan (CT scan) of brain in evaluation of suspected cavernous sinus syndrome.

Background And Purpose: The cavernous sinus is a unique region owing to anatomical factors and the pathologies affecting it. The diagnosis of cavernous sinus syndrome (CSS) predominantly relies on clinicoradiological correlation. We studied the utility of computed tomographic (CT) scan versus magnetic resonance imaging (MRI) in the diagnosis of CSS.