EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.

BACKGROUND: Mutations in the Early-Growth Response 2 (EGR2) gene cause various hereditary neuropathies, including demyelinating Charcot-Marie-Tooth (CMT) disease type 1D (CMT1D), congenital hypomyelinating neuropathy type 1 (CHN1), Déjerine-Sottas syndrome (DSS), and axonal CMT (CMT2). METHODS: In this study, we identified 14 patients with heterozygous EGR2 mutations diagnosed between 2000 and 2022. RESULTS: Mean age was 44 years (15-70), 10 patients were female (71%), and mean disease duration was 28 years (1-56). Disease onset was before age 15 years in nine cases (64%), after age 35 years in four cases (28%), and one patient aged 26 years was asymptomatic (7%). All symptomatic patients had pes cavus and distal lower limbs weakness (100%). Distal lower limbs sensory symptoms were observed in 86% of cases, hand atrophy in 71%, and scoliosis in 21%. Nerve conduction studies showed a predominantly demyelinating sensorimotor neuropathy in all cases (100%), and five patients needed walking assistance after a mean disease duration of 50 years (47-56) (36%). Three patients were misdiagnosed as inflammatory neuropathy and treated with immunosuppressive drugs for years before diagnosis was corrected. Two patients presented with an additional neurologic disorder, including Steinert's myotonic dystrophy and spinocerebellar ataxia (14%). Eight EGR2 gene mutations were found, including four previously undescribed. INTERPRETATION: Our findings demonstrate EGR2 gene-related hereditary neuropathies are rare and slowly progressive demyelinating neuropathies with two major clinical presentations, including a childhood-onset variant and an adult-onset variant which may mimic inflammatory neuropathy. Our study also expands the genotypic spectrum of EGR2 gene mutations.

Spinal cord lesion mimicking a dysimmune myelitis revealing CANVAS syndrome.

CONTEXT: Posterior spinal cord lesions are found in patients with ganglionopathy. These are normally found in later stages of the neuronopathy as a consequence of dorsal root ganglia degeneration. Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS) is an emerging neurological disorder. Myelitis lesions have been described in confirmed CANVAS cases. FINDINGS: We describe a case of a 68-year-old woman with slowly progressive ataxia with paresthesia. Laboratory tests were normal. Total spine MRI showed a C4 posterior spinal cord lesion. Lumbar puncture was positive for oligoclonal bands with normal IgG index and protein level. Paraneoplastic antibodies were not detected. Electromyography showed nonlength dependent sensory neuropathy. The patient was treated with intravenous immunoglobulin for suspected dysimmune myelitis. Over 6 years, she progressively developed other neurological manifestations evoking CANVAS. Nerve conduction study showed isolated sensory impairment over the years and peripheral nerve ultrasound revealed abnormally small nerves. Further genetic testing confirmed the diagnosis. CONCLUSION: This is the first case of CANVAS syndrome presenting initially with an isolated spinal cord lesion mimicking dysimmune myelitis. The purpose of this case report is to add to the current literature about this evolving neurological syndrome and to aid clinicians in their diagnostic approach in clinical practice.

Symmetrical isolated globus pallidus infarction due to bilateral carotid artery dissection.

A 43-year-old woman presented 1 day after whiplash injury with behavior change, hypersomnia, and abulia. MRI showed symmetrical globus pallidus infarction and bilateral watershed hypoperfusion. Magnetic resonance angiography (MRA) showed bilateral carotid artery dissection. To our knowledge, isolated symmetrical globus pallidus infarction related to bilateral carotid dissection has never been reported earlier.

[Therapeutic plasmapheresis procedures: An alternative to the disruption of the supply of polyvalent immunoglobulin in autoimmune pathologies. Medico-economic study]. / Les techniques de plasmaphérèse thérapeutique : une alternative à la rupture d'approvisionnement en immunoglobuline polyvalente dans les pathologies auto-immunes. Étude médico-économique.

INTRODUCTION: The supply of human polyvalent immunoglobulin has been under severe pressure for several years. This has led to a prioritisation of indications and a record increase in the amount of reimbursement without solving the problem of demand. Treatment by therapeutic plasmapheresis appears to be an alternative to be considered for the treatment of certain dysimmune diseseases. To discuss this alternative, we are conducting a medico-economic study comparing the polyvalent immunoglobulin strategy versus different therapeutic plasmapheresis system in the treatment of a chronic dysimmune disease. POPULATION AND METHOD: The medico-economic study was conducted using the example of a 75 kg patient with chronic polyradiculoneuritis dependent on chronic therapy with a comparison of sequential treatment with one session of therapeutic plasmapheresis versus a course of intravenous polyvalent immunoglobulin. The medico-economic study includes an evaluation from a public health care system perspective complemented by a hospital-based approach that justifies estimating the cost of different therapeutic plasmapheresis systems based on a bottom-up micro-costing approach. RESULTS: From the point of view of the care system, for information, a 20 g bottle of polyvalent immunoglobulin has a similar cost to a therapeutic plasmapheresis session. In our example, the cost of a maintenance treatment repeated every 2 to 4 weeks in chronic polyradiculoneuritis in a 75 kg patient is 1284.13 euros for a therapeutic plasmapheresis session versus 7331.60 to 9426.84 euros for a 1.5 to 2 mg/kg polyvalent immunoglobulin treatment. Furthermore, from the point of view of the hospital system, the cost of the different TT techniques evaluated varies moderately with the cost depending mainly on the quantity of albumin infused or the medical device used. CONCLUSION: In the chronic sequential treatment of chronic polyradiculoneuritis, the cost of therapeutic plasmapheresis could be lower than with polyvalent immunoglobulin from a healthcare system perspective. The cost to the health care facility between different therapeutic plasmapheresis techniques differs little. This study provides arguments suggesting that if therapeutic plasmapheresis can be implemented with a dedicated technical platform, it is a serious alternative to be considered without additional costs.