Two Cases of ROSAH-Like Syndrome Restricted to the Ophthalmologic Presentation.

Purpose: To report the clinical presentation and follow-up, including the optical coherence tomography, angiography and electrophysiology of two individuals from the same family presenting with an isolated retinal dystrophy and optic nerve edema who were diagnosed with ROSAH-like syndrome.

Method: Observational case report of a 55-year-old woman and her 36-year-old son with a genetic analysis of ROSAH, after a long-term follow-up.

Results: Both the mother and her son displayed severe optic nerve infiltration and retinal pigment atrophy with intraocular inflammation, which were not improved by immunosuppressive treatment.

Carrier frequency and molecular basis of hemoglobinopathies among blood donors in eastern Morocco: Implications for blood donation and genetic diagnosis.

Background: Hemoglobinopathies represent the most commonly inherited autosomal recessive blood disorders in the world. The aim of this study was to determine the carrier frequency and molecular basis of hemoglobinopathies among blood donors in eastern Morocco. This is the first study of its kind for this country.

Serum NfL and GFAP are weak predictors of long-term multiple sclerosis prognosis: A 6-year follow-up.

Background: Serum neurofilament light chain (sNfL) and glial fibrillary acidic protein (sGFAP) are promising biomarkers that might be associated with clinical and radiological markers of multiple sclerosis (MS) severity. However, it is not known whether they can accurately identify patients at risk of disability progression in the medium and long term.

Objectives: We wanted to determine the association between sNfL and sGFAP, Expanded Disability Status Scale score changes, and conversion to secondary progressive MS (SPMS) in a cohort of 133 patients with relapsing remitting MS.

Safety and efficacy of transvenous embolization of cerebrospinal fluid-venous fistula in patients with spontaneous intracranial hypotension.

Background: Transvenous embolization is a recent treatment strategy for cerebrospinal fluid-venous fistulas (CSFVF), which are associated with spontaneous intracranial hypotension (SIH).

Methods: Participants were selected from a prospective database on patients with CSFVF that received transvenous Onyx embolization. All patients underwent a brain magnetic resonance imaging (MRI) before and after embolization with MRI follow-up performed at least 3 months after treatment.

Corticospinal tract hyperintensity in patients with LGI1-antibody encephalitis and other central nervous system disorders with neuroglial antibodies.

The frequency of corticospinal tract (CST) T2/FLAIR hyperintensity in disorders with neuroglial antibodies is unclear. Herein, we retrospectively reviewed brain MRIs of 101 LGI1-antibody encephalitis patients, and observed CST hyperintensity in 30/101 (30%). It was mostly bilateral (93%), not associated with upper motor neuron signs/symptoms (7%), and frequently decreased over time (39%).