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Metachromatic leukodystrophy (MLD) is a neuro-metabolic disorder due to arylsulfatase A deficiency, causing demyelination of the central and peripheral nervous system. Hematopoietic cell transplantation (HCT) can provide a symptomatic and survival benefit for pre-symptomatic and early symptomatic patients by stabilizing CNS disease. This case series, however, illustrates the occurrence of severely progressive polyneuropathy shortly after HCT in two patients with late-infantile, one with late-juvenile, and one with adult MLD, leading to the inability to walk or sit without support. The patients had demyelinating polyneuropathy before HCT, performed at the ages of 2 years in the first two patients and at 14 and 23 years in the other two patients. The myeloablative conditioning regimen consisted of busulfan, fludarabine and, in one case, rituximab, with anti-thymocyte globulin, cyclosporine, steroids, and/or mycophenolate mofetil for GvHD prophylaxis. Polyneuropathy after HCT progressed parallel with tapering immunosuppression and paralleled bouts of infection and graft-versus-host disease (GvHD). Differential diagnoses included MLD progression, neurological GvHD or another (auto)inflammatory cause. Laboratory, electroneurography and pathology investigations were inconclusive. In two patients, treatment with immunomodulatory drugs led to temporary improvement, but not sustained stabilization of polyneuropathy. One patient showed recovery to pre-HCT functioning, except for a Holmes-like tremor, for which a peripheral origin cannot be excluded. One patient showed marginal response to immunosuppressive treatment and died ten months after HCT due to respiratory failure. The extensive diagnostic and therapeutic attempts highlight the challenge of characterizing and treating progressive polyneuropathy in patients with MLD shortly after HCT. We advise to consider repeat electro-neurography and possibly peripheral nerve biopsy in such patients. Nerve conduction blocks, evidence of the presence of T lymphocytes and macrophages in the neuronal and surrounding nerve tissue, and beneficial effects of immunomodulatory drugs may indicate a partially (auto)immune-mediated pathology. Polyneuropathy may cause major residual disease burden after HCT. MLD patients with progressive polyneuropathy could potentially benefit from a more intensified immunomodulatory drug regime following HCT, especially at times of immune activation. [ABSTRACT FROM AUTHOR]

Background/Objectives: Myelin oligodendrocyte glycoprotein (MOG) is exclusively expressed in the central nervous system (CNS) and is found on the outer surface of oligodendrocytes. Antibodies to MOG are associated with CNS demyelination, whereas peripheral nervous system (PNS) demyelination is seldom reported to be related to MOG-IgG. Methods: The database of patients seen in our neurological academic center was searched for MOG-IgG seropositivity and concomitant demyelinating polyneuropathy. For the purpose of the review, in March 2024, we searched for case reports and case series in the following databases: PubMed, Scopus, Cochrane, and ScienceDirect. Inclusion criteria were MOG-IgG seropositivity and demyelinating polyneuropathy. Exclusion criteria were type of publication other than case reports and case series, unconfirmed diagnosis of demyelinating polyneuropathy, and other diseases causing demyelination in either the CNS or PNS. Critical appraisal of the selected case reports and case series was realized by JBI. Results: Four new cases were identified with MOG-IgG and confirmed demyelinating polyneuropathy. This review identified 22 cases that have been published since 2018. Clinical, imaging, neurophysiological, and immunological characteristics, as well as treatment options and outcomes are presented and compared to those of other cases with combined central and peripheral demyelination (CCPD). Conclusions: The pathogenetic mechanism is unclear; thus, different hypotheses are discussed. New case reporting and large cohort studies will help further the exploration of the underlying mechanism and guide more effective therapeutic interventions. [ABSTRACT FROM AUTHOR]

Leprosy, caused by the bacterium Mycobacterium leprae, is known to primarily affect the skin and peripheral nerves. We present a rare case of leprosy initially manifesting as demyelinating polyneuropathy. A 46-year-old female presented with progressive weakness, tingling, and numbness in her extremities. Nerve conduction studies revealed evidence of demyelination, prompting further investigations. Skin slit-skin smears confirmed the diagnosis of leprosy, with the presence of acid-fast bacilli. The patient was subsequently started on multidrug therapy, leading to significant clinical improvement. This case highlights the importance of considering leprosy as a differential diagnosis in patients presenting with demyelinating polyneuropathy, especially in endemic regions.

Leprosy, caused by the bacterium Mycobacterium leprae, is known to primarily affect the skin and peripheral nerves. We present a rare case of leprosy initially manifesting as demyelinating polyneuropathy. A 46-year-old female presented with progressive weakness, tingling, and numbness in her extremities. Nerve conduction studies revealed evidence of demyelination, prompting further investigations. Skin slit-skin smears confirmed the diagnosis of leprosy, with the presence of acid-fast bacilli. The patient was subsequently started on multidrug therapy, leading to significant clinical improvement. This case highlights the importance of considering leprosy as a differential diagnosis in patients presenting with demyelinating polyneuropathy, especially in endemic regions. [ABSTRACT FROM AUTHOR]

POEMS syndrome is a paraneoplastic disorder manifested by peripheral neuropathy and monoclonal plasma cell dyscrasia. Due to its clinical and electrophysiological aspect, POEMS syndrome is often mistaken as a chronic inflammatory demyelinating polyneuropathy (CIDP) [1]. Its acronym is derived from its principal characteristics: polyneuropathy, organomegaly, endocrinopathy, M proteins, and skin changes [2]. The purpose of this paper is to present the case of a patient who was lately diagnosed with POEMS syndrome after he was mistreated for CIDP in order to show the importance of a complete physical examination. [ABSTRACT FROM AUTHOR]

Polyneuropathy (PNP) is a known complication of levodopa-carbidopa intestinal gel (LCIG) therapy of advanced Parkinson’s Disease (PD). The overall prevalence of PNP in PD is estimated to be 42.1% (as shown in a review by Romagnolo et al. 2018), and the most common type is chronic axonal polyneuropathy. There is a group of acute/subacute onset demyelinating polyneuropathies, which is far less common, although it seems to be an important factor leading to the rapid discontinuation of LCIG treatment. In this systematic review, we present data on demyelinating polyneuropathy with acute/subacute onset; we identified nine papers including prospective assessments and case reports, with detailed information on 15 patients. In all patients, despite treatment with corticosteroids, intravenous immunoglobulins (IVIG) or plasma exchange (PE), the LCIG therapy was terminated. We also present a case of subacute demyelinating polyneuropathy with effective treatment and continuation of LCIG therapy. [ABSTRACT FROM AUTHOR]

Background: Childhood vasculitis is a heterogeneous disorder, characterized by inflammation of the blood vessel walls. Multiple organs and/or tissues are affected, either simultaneously or successively. Vascular neuropathy occurs when the vasa nervorum is affected. Presentation includes mononeuritis multiplex, acute motor/motor-sensory axonal neuropathy, pure sensory neuropathy, and chronic inflammatory demyelinating polyneuropathy. Making a diagnosis is a challenge when neurological manifestations appear for the first time or are isolated. Clinical Description: A 12-year-old girl presented with acute pain and progressive weakness of both lower limbs for 12 days, followed by diffuse abdominal pain and low-grade fever. Salient neurological findings were diminished power and hyporeflexia in all limbs. Guillain–Barre syndrome was suspected in view of symmetric ascending paralysis and a suggestive nerve conduction study. The child had neutrophilic leukocytosis but sterile cultures. The successive development of inflammatory demyelinating polyneuropathy, persistent fever, vasculitic phenomena (hypertension, severe myalgia, rashes, multiple infarcts, acute renal cortical necrosis, and gangrene of the digit), and elevated acute-phase reactants was suggestive of a multisystemic small-vessel and medium-sized vasculitis syndrome, such as polyarteritis nodosa (PAN). A diagnosis of PAN was established based on the satisfaction of clinical criteria. Management: The patient was administered pulse methylprednisolone and oral steroids, with which there was a dramatic recovery. Monthly cyclophosphamide was continued in view of major systemic involvement. Conclusion: Early recognition and management of childhood vasculitis syndrome is associated with good outcomes.

POEMS syndrome is a paraneoplastic disorder manifested by peripheral neuropathy and monoclonal plasma cell dyscrasia. Due to its clinical and electrophysiological aspect, POEMS syndrome is often mistaken as a chronic inflammatory demyelinating polyneuropathy (CIDP) [1]. Its acronym is derived from its principal characteristics: polyneuropathy, organomegaly, endocrinopathy, M proteins, and skin changes [2]. The purpose of this paper is to present the case of a patient who was lately diagnosed with POEMS syndrome after he was mistreated for CIDP in order to show the importance of a complete physical examination.

Abstract We herein report a case of Guillain‐Barré syndrome (GBS) after SARS‐CoV‐2 infection. The patient was a close contact with a SARS‐CoV‐2 patient. Initially, she did not have any symptoms and quarantined at a hotel. Dysgeusia and olfactory abnormality appeared at day 6 after testing positive for infection and disappeared by day 9. Subsequently, the patient developed numbness of the arms and legs, difficulty walking, and dyspnea and was referred to our hospital. Her clinical examination showed generalized weakness and hyporeflexia. A cerebrospinal fluid analysis showed albuminocytological dissociation. Her nerve conduction studies were consistent with demyelinating polyneuropathy. Intravenous immunoglobulin was administered based on a diagnosis of GBS.

Acute-onset chronic inflammatory demyelinating polyneuropathy (A-CIDP) is an immune mediated neuropathy characterized by progressive weakness and sensory impairment lasting over 2 months. Guillain-Barré-Strohl syndrome (GBS) is an immune mediated polyneuropathy with a similar presentation often over less than 4 weeks. While some have argued for the existence of recurrent GBS, most classify the syndrome as a form of relapsing-remitting CIDP. However, there are cases of GBS with treatment-related fluctuations that must be distinguished from A-CIDP as patients with A-CIDP require long-term immunotherapy. In this case report, we discuss a patient with multiple relapses over 3 years, who is more likely to have A-CIDP. His ganglioside profile, which has rarely been reported in A-CIDP, included high concentrations of anti-GM1, anti-GD1a, and anti-GD1b antibodies, which may account for his severe disease course.

The autosomal recessive spastic ataxia of CharlevoixSaguenay (ARSACS), presenting with spinocerebellar ataxia, dysarthria, nystagmus, and spastic paraparesis, is a gradually progressive hereditary disease. Sensorimotor polyneuropathy may also accompany the symptoms. Herein, we present the electrophysiologic findings of a Turkish family with ARSACS in combination with clinical and genetic features to better describe the characteristics of the polyneuropathy in ARSACS. Regarding the electrophysiologic findings, however, the demyelinating characteristics were prominent and there were findings compatible with secondary axonal degeneration. Rare hereditary diseases such as ARSACS must be suspected in the presence of polyneuropathies with demyelinating characteristics accompanying pyramidal findings and ataxia. [ABSTRACT FROM AUTHOR]

There are few case reports of concomitant chronic inflammatory demyelinating polyneuropathy (CIDP) and focal segmental glomerulosclerosis. A rare autoantibody to a neuronal and podocyte structural component, neurofascin, may be contributory. A Black man in his 40s presented with worsening polyneuropathy requiring mechanical ventilation and initially acute inflammatory demyelinating polyneuropathy was diagnosed. After a poor response to intravenous immunoglobulin, plasmapheresis was initiated. The patient also had concomitant new-onset nephrotic-range proteinuria. A limited kidney biopsy was interpreted as minimal change disease and was treated with prednisone. After some improvement, the patient was extubated; however, he later re-presented with worsening symptoms requiring mechanical ventilation and was re-treated with plasmapheresis. Due to the protracted course and poor response to intravenous immunoglobulin, acute-onset CIDP was diagnosed and a neuromuscular antibody workup returned positive for neurofascin, supporting the diagnosis of seropositive acute-onset CIDP. A repeat kidney biopsy demonstrated focal segmental glomerulosclerosis and acute tubular damage. The patient was treated with steroids and tacrolimus and later transitioned to rituximab. Neurofascin enzyme-linked immunosorbent assay then tested negative with concomitant resolution of both neuropathy and proteinuria. Further studies will help validate these findings and the treatment strategy.

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an immune-mediated neuropathy that is characterized by a slowly progressive sensory and motor involvement lasting at least 2 months. We present a CIDP patient on subcutaneous Ig (SCIg). Upon fine-tuning his dose from 24 to 28 g/week, this showed a dramatic improvement in both hand grip (13–25%) and dorsiflexion (73–278%). Follow-up nerve conduction studies also demonstrated significant improvements in latencies, motor amplitudes, and conduction velocities. Ongoing surveillance of CIDP patients receiving SCIg therapy is therefore necessary to ensure therapeutic optimization.

Acute pandysautonomia is a rare disorder characterized by autonomic failure affecting sympathetic, parasympathetic, and enteric functions. We present a case of acute inflammatory demyelinating polyneuropathy (AIDP) with severe pandysautonomia in a young, otherwise healthy, female who presented with gastrointestinal symptoms and sensory demyelinating polyneuropathy, which progressively worsened and subsequently developed bladder dysfunction and orthostatic hypotension. We discuss the challenges with diagnostic workup as well as the challenges we encountered as part of the management. [ABSTRACT FROM AUTHOR]

Objective: To analyze the available evidence on the association between COVID-19 and Guillain Barré syndrome. Acquisition of the evidence: A systematic review was held guided by Prism Declaration. We reviewed articles published in English, in Pubmed database, from January to October 2020, referring to the Guillain Barré Syndrome associated with COVID-19. It was included in the preparation of database 50 articles that met the eligibility criteria. Results: Patients over 60 years of age (46.6%) and male sex (63.3%) predominated. 60% of the patients showed the neurological clinic, after the resolution of the symptoms of COVID-19 infection. The latency period between the onsets of COVID-19 and Guillain Barré syndrome, and vice versa, was 12.4 ± 6.3 days. Most patients had typical Barré Guillain Syndrome (76.3%) and the most frequent electrophysiological subtype was acute inflammatory demyelinating polyneuropathy (46.6%). Conclusions: The growing number of cases reported with Guillain Syndrome Barré during the COVID-19 pandemic constitutes the main evidence to point to SARSCOV2 infection as a causal agent. Clinical manifestations, variants and electrophysiological subtypes show no differences with Guillain Syndrome Barré pre-pamdemic. The variability in the temporary relationship between the manifestations of VOCID-19 and the development of Guillain Barré syndrome suggests mechanisms of parainfectious and postinfectious presentation mechanisms. [ABSTRACT FROM AUTHOR]

Acute-onset chronic inflammatory demyelinating polyneuropathy (A-CIDP) is an immune mediated neuropathy characterized by progressive weakness and sensory impairment lasting over 2 months. Guillain-Barré-Strohl syndrome (GBS) is an immune mediated polyneuropathy with a similar presentation often over less than 4 weeks. While some have argued for the existence of recurrent GBS, most classify the syndrome as a form of relapsing-remitting CIDP. However, there are cases of GBS with treatment-related fluctuations that must be distinguished from A-CIDP as patients with A-CIDP require long-term immunotherapy. In this case report, we discuss a patient with multiple relapses over 3 years, who is more likely to have A-CIDP. His ganglioside profile, which has rarely been reported in A-CIDP, included high concentrations of anti-GM1, anti-GD1a, and anti-GD1b antibodies, which may account for his severe disease course. [ABSTRACT FROM AUTHOR]

We herein report a case of Guillain‐Barré syndrome (GBS) after SARS‐CoV‐2 infection. The patient was a close contact with a SARS‐CoV‐2 patient. Initially, she did not have any symptoms and quarantined at a hotel. Dysgeusia and olfactory abnormality appeared at day 6 after testing positive for infection and disappeared by day 9. Subsequently, the patient developed numbness of the arms and legs, difficulty walking, and dyspnea and was referred to our hospital. Her clinical examination showed generalized weakness and hyporeflexia. A cerebrospinal fluid analysis showed albuminocytological dissociation. Her nerve conduction studies were consistent with demyelinating polyneuropathy. Intravenous immunoglobulin was administered based on a diagnosis of GBS. [ABSTRACT FROM AUTHOR]

ABHD12 mutations have been linked to neurodegenerative PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract), a rare, progressive, autosomal, recessive disease. Although ABHD12 is suspected to play a role in the lysophosphatidylserine and/or endocannabinoid pathways, its precise functional role(s) leading to PHARC disease had not previously been characterized. Cell and zebrafish models were designed to demonstrate the causal link between an identified new missense mutation p.T253R, characterized in ABHD12 from a young patient, the previously characterized p.T202I and p.R352* mutations, and the associated PHARC. Measuring ABHD12 monoacylglycerol lipase activity in transfected HEK293 cells demonstrated inhibition with mutated isoforms. Both the expression pattern of zebrafish abhd12 and the phenotype of specific antisense morpholino oligonucleotide gene knockdown morphants were consistent with human PHARC hallmarks. High abhd12 transcript levels were found in the optic tectum and tract, colocalized with myelin basic protein, and in the spinal cord. Morphants have myelination defects and concomitant functional deficits, characterized by progressive ataxia and motor skill impairment. A disruption of retina architecture and retinotectal projections was observed, together with an inhibition of lens clarification and a low number of mechanosensory hair cells in the inner ear and lateral line system. The severe phenotypes in abhd12 knockdown morphants were rescued by introducing wild-type human ABHD12 mRNA, but not by mutation-harboring mRNAs. Zebrafish may provide a suitable vertebrate model for ABHD12 insufficiency and the study of functional impairment and potential therapeutic rescue of this rare, neurodegenerative disease.

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an immune-mediated neuropathy that is characterized by a slowly progressive sensory and motor involvement lasting at least 2 months. We present a CIDP patient on subcutaneous Ig (SCIg). Upon fine-tuning his dose from 24 to 28 g/week, this showed a dramatic improvement in both hand grip (13- 25%) and dorsiflexion (73-278%). Follow-up nerve conduction studies also demonstrated significant improvements in latencies, motor amplitudes, and conduction velocities. Ongoing surveillance of CIDP patients receiving SCIg therapy is therefore necessary to ensure therapeutic optimization. [ABSTRACT FROM AUTHOR]