Neurological Manifestations of HEV Infection: A Rare Phenomenon or an Underrecognized Reality?

Aim: This study aimed to describe neurological manifestations secondary to hepatitis E virus (HEV) through the description of two clinical cases.

Methods: Two different cases of neuralgic amyotrophy and meningoradiculitis are evaluated in the emergency department of a tertiary referral hospital in 2024.

Results: Case 1: A 43-year-old male presented to the emergency department with proximal weakness and pain in the right upper extremity associated with acute onset of orthopnea.

Expanding the clinical phenotype and understanding the biochemical consequences of Muscle Glycogen Synthase Deficiency (GSD0B).

Aims: Glycogen storage disease type 0b (GSD 0b) is an exceptionally rare metabolic disorder caused by biallelic pathogenic variants in the GYS1 gene, leading to deficient glycogen synthase (GS) activity. In 2022, two cases were reported for the first time with a phenotype presenting as adult-onset myopathy.

Methods: A 56-year-old woman with a history of progressive limb-girdle and axial weakness was evaluated.

Usefulness of serum neurofilament light chain in chronic inflammatory demyelinating polyradiculoneuropathy.

Background: The development of new biomarkers is essential to improve diagnostic accuracy and guide treatment decisions in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). The aim of this study was to investigate the utility of the serum neurofilament light chain (sNfL) level as a marker for disability and response to immunomodulatory treatment in patients with CIDP.

Methods: This prospective, single-center, observational study included 38 patients with CIDP: 19 treatment-naive (CIDP-I) patients assessed before and after the initiation of immunomodulatory therapy and 19 stable patients on maintenance immunoglobulins (CIDP-M).

Usefulness of somatosensory evoked potentials for monitoring the clinical course of patients with chronic inflammatory demyelinating polyradiculoneuropathy.

Introduction/aims: Somatosensory evoked potentials (SSEPs) are described as a supportive tool to diagnose chronic inflammatory demyelinating polyradiculoneuropathy (CIDP); however, there is a lack of studies determining the effectiveness of SSEPs in monitoring the clinical course of individuals with this condition. The aims of this study are to evaluate the utility of SSEPs in monitoring patients with CIDP and to assess their association with clinical outcomes following immunomodulatory therapy.

Methods: This was a single-center retrospective observational study that included patients who met European Federation of Neurological Societies and Peripheral Nerve Society criteria for CIDP between 2018 and 2023.

Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related disease.

TANGO2-related disease is an autosomal recessive multisystem disease associated with developmental delay and infancy-onset recurrent metabolic crises with early mortality. Several studies have reported dysfunction in endoplasmic reticulum-to-Golgi traffic and mitochondrial homoeostasis as the underlying pathophysiology. We report a 40-year-old woman affected by limb-girdle weakness and mild intellectual disability caused by the recurrent deletion of exons 3-9 in homozygosity in the TANGO2 gene.