Case report: Rapid recovery after intrathecal rituximab administration in refractory anti-NMDA receptor encephalitis: report of two cases.

Background: Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is one of the most prevalent etiologies of autoimmune encephalitis. Approximately 25% of anti-NMDAR encephalitis cases prove refractory to both first- and second-line treatments, posing a therapeutic dilemma due to the scarcity of evidence-based data for informed decision-making. Intravenous rituximab is commonly administered as a second-line agent; however, the efficacy of its intrathecal administration has rarely been reported.

Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1.

We recently described new pathogenic variants in VRK1, in patients affected with distal Hereditary Motor Neuropathy associated with upper motor neurons signs. Specifically, we provided evidences that hiPSC-derived Motor Neurons (hiPSC-MN) from these patients display Cajal Bodies (CBs) disassembly and defects in neurite outgrowth and branching. We here focused on the Axonal Initial Segment (AIS) and the related firing properties of hiPSC-MNs from these patients.

Neurobrucellosis: Brief Review.

Background: Brucella are small, nonmotile, intracellular, and aerobic gram-negative bacteria. Of the 10 species that currently form the genus Brucella, 5 were shown to be pathogenic in humans.

Review Summary: The epidemiology, clinical manifestations, diagnosis and imaging, and treatment of neurobrucellosis will be reviewed.

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.

Background: Clinical and molecular data on the occurrence and frequency of inherited neuromuscular disorders (NMD) in the Lebanese population is scarce.

Objective: This study aims to provide a retrospective overview of hereditary NMDs based on our clinical consultations in Lebanon.

Methods: Clinical and molecular data of patients referred to a multi-disciplinary consultation for neuromuscular disorders over a 20-year period (1999-2019) was reviewed.

Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.

Distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of diseases, resembling Charcot-Marie-Tooth syndromes, but characterized by an exclusive involvement of the motor part of the peripheral nervous system. Here, we describe two new compound heterozygous mutations in VRK1, the vaccinia-related kinase 1 gene, in two siblings from a Lebanese family, affected with dHMN associated with upper motor neurons (MNs) signs. The mutations lead to severely reduced levels of VRK1 by impairing its stability, and to a shift of nuclear VRK1 to cytoplasm.

Neuroleptics as a cause of painful legs and moving toes syndrome.

Painful legs and moving toes syndrome is rare. It is predominantly diagnosed in middle-aged adults following a history of spinal cord surgery or trauma. The syndrome consists of abnormal repetitive movements, most commonly in the lower extremities, accompanied by pain in the affected limb.

Toxocara canis myelitis: clinical features, magnetic resonance imaging (MRI) findings, and treatment outcome in 17 patients.

Toxocara myelitis is a rare disease. Few cases have been reported in the literature. Patients present with myelopathy, occasional eosinophilia in blood and cerebrospinal fluid (CSF), with abnormal signals on magnetic resonance imaging (MRI).

Neurobrucellosis presenting with hearing loss, gait disturbances and diffuse white matter disease on brain magnetic resonance imaging (MRI).

Purpose: To report an unusual case of neurobrucellosis.

Methods: A 48-year-old man was admitted to Rafik Hariri University Hospital (RHUH) for progressive gait disturbances, hearing loss, and some episodes of chills without documented fever. The neurological examination showed gait ataxia, tremor in the legs and mild cognitive decline.

Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.

Charcot-Marie-Tooth (CMT) disorders are a clinically and genetically heterogeneous group of hereditary motor and sensory neuropathies characterized by muscle weakness and wasting, foot and hand deformities, and electrophysiological changes. The CMT4H subtype is an autosomal recessive demyelinating form of CMT that was recently mapped to a 15.8-Mb region at chromosome 12p11.

Moyamoya syndrome with intraventricular hemorrhage in an adult with factor V Leiden mutation.

Objective: To report a case of proximal occlusion of 2 major cerebral vessels associated with moyamoya network circulation that manifested by spontaneous intraventricular hemorrhage.

Design: Case report.

Patient And Results: A 36-year-old Syrian man presented with symptoms of sudden-onset headache, neck stiffness, and confusion.

Right hemisphere language mapping in patients with bilateral language.

Purpose: The configuration of language cortex in the dominant left hemisphere has been well described in the literature. However, language representation in the right hemisphere, particularly in patients with some degree of bilateral language, remains unclear. Herein, we report six patients who underwent electrocortical stimulation (ECS) for language mapping following implantation of a right subdural electrode array (SEA).