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Annals of Clinical and Translational... Apr 2024Recent studies have reported the involvement of peripheral nervous system (PNS) in association with MOG-IgG, including isolated neuropathies. In this retrospective study...
Recent studies have reported the involvement of peripheral nervous system (PNS) in association with MOG-IgG, including isolated neuropathies. In this retrospective study we characterized the PNS involvement in MOG antibody associated disease (MOGAD). Six out of 215 MOGAD patients had PNS involvement (all polyradiculopathy) that occurred concurrently with a CNS demyelinating episode. We also demonstrated MOG expression in healthy human controls' proximal nerve root. Nine patients with true-positive MOG-IgG1 had PNS involvement temporally unrelated to a CNS demyelinating event. All these patients had an alternate etiology of PNS involvement. Isolated peripheral neuropathy is not a feature of MOGAD, but inflammatory nerve root involvement can occur concurrently with CNS demyelinating events.
Topics: Humans; Peripheral Nerves; Peripheral Nervous System Diseases; Retrospective Studies
PubMed: 38234084
DOI: 10.1002/acn3.52001 -
Annals of the Royal College of Surgeons... Jan 2024For cauda equina syndrome (CES), current clinical assessment in the emergency department usually involves perianal sensation (PAS) and anal tone (AT). Neither reliably... (Review)
Review
For cauda equina syndrome (CES), current clinical assessment in the emergency department usually involves perianal sensation (PAS) and anal tone (AT). Neither reliably predict magnetic resonance imaging (MRI) demonstrating a large central disc prolapse (MRI+). Other clinical examination findings increase the probability of MRI+. Other tests of sacral nerve root function include anal squeeze (AS) and the bulbocavernosus reflex (BCR). If BCR, PAS and AT, and AS are combined and they are all normal, CES can be excluded in almost all cases. Portable bladder ultrasonography is now commonly used to assess bladder function, particularly in measuring the post-void residual urinary volume (PVR). PVR is deemed normal at <50ml. If the PVR is <200ml and there are no objective signs, MRI+ is rare. If the PVR is >200ml, MRI+ is found in 43% of cases. The combined assessment of PAS, AT and AS (and BCR in selected cases) and PVR increases the specificity and sensitivity of a clinical diagnosis of CES (i.e. maximising MRI+ and minimising MRI-). Recommendations for when to perform MRI are made.
Topics: Humans; Urinary Bladder; Cauda Equina Syndrome; Polyradiculopathy; Intervertebral Disc Displacement; Emergency Service, Hospital
PubMed: 37051769
DOI: 10.1308/rcsann.2022.0168 -
BMC Pediatrics Jun 2024Guillain‒Barre syndrome (GBS) is an acute inflammatory peripheral neuropathy caused by autoimmunity. Gangliosides and sulfatides are important components of peripheral...
BACKGROUND
Guillain‒Barre syndrome (GBS) is an acute inflammatory peripheral neuropathy caused by autoimmunity. Gangliosides and sulfatides are important components of peripheral nerves. Anti-sulfatide antibody-mediated complement is associated with acute sensorimotor peripheral neuropathy in GBS, which is characterized by pain and paresthesias.
CASE PRESENTATION
The child was a 7-year-old girl with headache and abdominal pain, followed by limb numbness and pain. Cranial imaging showed ventricular dilatation, peripheral nerve function conduction examination showed polyradiculopathy, and cerebrospinal fluid tests showed normal cell counts but elevated protein levels, all of which led to the diagnosis of GBS. After treatment with intravenous immunoglobulin (400 mg/kg × 5 days), the symptoms did not improve, and muscle strength progressively worsened, accompanied by paroxysmal complexion flushing, heart rate fluctuation, hyperhidrosis, and a progressive increase in cerebrospinal fluid protein (up to 3780.1 mg/L). On the basis of these findings combined with serum anti-sulfatide IgM positivity, anti-sulfatide antibody-related GBS was considered, and treatment with low-dose prednisolone (1 mg/kg/d) led to symptom improvement.
CONCLUSIONS
Anti-sulfatide antibody-associated GBS is associated with small fiber peripheral neuropathy. The main manifestations are pain, paresthesias and autonomic dysfunction. In addition to the dysfunction of spinal nerve root absorption caused by increased cerebrospinal fluid protein, autonomic dysfunction may be involved in pain. When the therapeutic effect of immunoglobulin is not satisfactory, a low dose and short course of corticosteroids can be considered, and the prognosis is good.
Topics: Humans; Female; Child; Guillain-Barre Syndrome; Abdominal Pain; Headache; Sulfoglycosphingolipids; Autoantibodies; Prednisolone
PubMed: 38926645
DOI: 10.1186/s12887-023-04287-5 -
Intractable & Rare Diseases Research Nov 2023Varicella zoster virus (VZV) causes chickenpox at the primary infection and then becomes latent in the spinal dorsal root ganglia; VZV can reactivate with aging,...
Varicella zoster virus (VZV) causes chickenpox at the primary infection and then becomes latent in the spinal dorsal root ganglia; VZV can reactivate with aging, immunosuppression, stress, and other factors, occurring as herpes zoster (HZ) at 1-2 skin segments. HZ peripheral nerve complications caused by VZV reactivation include Hunt syndrome, segmental HZ paresis, post-herpetic neuralgia, and Guillain-Barré syndrome (GBS). We have encountered the rare HZ complications of upper-limb paresis, myeloradiculitis, and polyradiculoneuritis: an adult woman with upper-limb paresis consistent with the nerve root on segments above the thoracic HZ dermatome; another woman exhibiting ascending myeloradiculitis originating at the Th11-12 roots; an elderly woman with ascending VZV polyradiculoneuritis resembling GBS; an adult with VZV quadriplegia with disseminated HZ; and an elderly patient with VZV-associated polyradiculoneuritis. The three polyradiculoneuritis cases may be a new subtype of HZ peripheral neuropathy, but the pathophysiology for these HZ peripheral nerve complications unrelated to HZ dermatomes is unclear. We analyzed host factors, skin lesions, neurological and virological findings, and MRI results including 3D NerveVIEW in 15 Japanese patients treated at our facility for HZ peripheral neuropathy, including six differing from the HZ dermatome. Based on the clinical findings including MRI results of spinal ganglia and roots, we identified four possible routes for the patterns of VZV spread: () ascending spinal roots, () ascending spinal cord, () polyradiculopathy, and () intrathecal spread. The incidence of HZ is increasing with the aging of many populations, and clinicians should be aware of these HZ neuropathies.
PubMed: 38024578
DOI: 10.5582/irdr.2023.01090 -
Tumori Dec 2023Melanoma is an aggressive malignancy, historically characterized with a poor prognosis and few treatment options. The advent of target therapy with BRAF and MEK...
BACKGROUND
Melanoma is an aggressive malignancy, historically characterized with a poor prognosis and few treatment options. The advent of target therapy with BRAF and MEK inhibitors, as well as immunotherapy, changed this scenario and improved the prognosis of patients with BRAF V600E mutation. These therapies are generally well tolerated. Neurological toxicities, especially polyradiculopathy, are very rare with BRAF inhibitors and MEK inhibitors although some cases have been described in recent years, regardless of the type of target therapies combination used.
CASE REPORT
We report the case of a patient with BRAF V600E-mutated metastatic melanoma treated with dabrafenib and trametinib who has developed a demyelinating polyradiculoneuropathy.
CONCLUSION
This case, once more, should draw our attention to the possibility of rare, but potentially serious side effects, even in the case of generally well-tolerated treatments. Especially in the presence of side effects, it is important a close relationship between clinicians and patients for the management of adverse events and the choice of the best treatment strategy.
Topics: Humans; Proto-Oncogene Proteins B-raf; Melanoma; Pyridones; Mitogen-Activated Protein Kinase Kinases; Polyradiculoneuropathy; Antineoplastic Combined Chemotherapy Protocols; Mutation
PubMed: 38050794
DOI: 10.1177/03008916231202102 -
Muscle & Nerve Nov 2023In our experience, patients with late-onset facioscapulohumeral muscular dystrophy type 1 (FSHD1) are frequently misdiagnosed, some for many years. The aim of this...
INTRODUCTION/AIMS
In our experience, patients with late-onset facioscapulohumeral muscular dystrophy type 1 (FSHD1) are frequently misdiagnosed, some for many years. The aim of this report is to document this clinical experience including the presenting symptoms and misdiagnoses and to discuss the challenges in diagnosing patients with late-onset FSHD1.
METHODS
We performed a retrospective medical record review and recorded clinical data on patients with a genetically confirmed diagnosis of FSHD1, who began to have symptoms at 50 years of age or older, and either had no family history of FSHD1 or had a history of an undiagnosed weakness in a family member.
RESULTS
Thirteen patients, 7 men and 6 women, met the study inclusion criteria. Age of onset ranged from 52 to 74 (mean, 59.8) years, age of diagnosis ranged from 54 to 80 (mean, 66.5) years, and duration of symptoms from onset to diagnosis was 1 to 15 (mean, 6.7) years. Prior diagnoses included lumbosacral polyradiculopathy in five (38%); statin-related myopathy in two (15%); and one each of polymyositis, inclusion-body myositis, distal myopathy, limb-girdle muscular dystrophy, unspecific myopathy, and unspecified scapular winging. For eight patients (62%), family history was suspected in deceased members or if by confirmed DNA test postdiagnosis.
DISCUSSION
The diagnosis of late-onset FSHD1 is often delayed by many years with patients frequently receiving misdiagnoses. FSHD1 may not be considered in the differential diagnosis of late-onset weakness due to its rarity and because its clinical features are subtler, nonspecific, and mimic other neuromuscular disorders.
Topics: Male; Humans; Female; Middle Aged; Aged; Muscular Dystrophy, Facioscapulohumeral; Retrospective Studies; Muscular Dystrophies, Limb-Girdle; Diagnostic Errors
PubMed: 37638785
DOI: 10.1002/mus.27962 -
Cureus Feb 2024Guillain-Barré syndrome (GBS) in post-transplant patients is a rare clinical presentation. Although in the literature this neurological condition has been mainly...
Guillain-Barré syndrome (GBS) in post-transplant patients is a rare clinical presentation. Although in the literature this neurological condition has been mainly associated with viral infections secondary to immunosuppression, GBS should not only be suspected in patients with an acute condition. It is essential to always rule out a viral or bacterial cause, looking for the most common sources, i.e., urinary, respiratory, and gastrointestinal. The diagnosis of GBS is clinically based, and its management is based on the use of intravenous immunoglobulin (IVIG) or plasma exchange. Its timely diagnosis allows treatment to be started early, thus improving the prognosis of these patients and reducing the time of hospitalization and complications associated with it. This report shows how an interdisciplinary approach is vital in such cases, as both the precipitant and the disease must be managed to decrease the morbidity and mortality associated with this condition. It is crucial to evaluate the benefits and risks of withdrawing immunosuppressive treatment in post-transplant patients, and being able to recognize when restarting them is indicated.
PubMed: 38505462
DOI: 10.7759/cureus.54380 -
Cureus Jan 2024The Epstein-Barr virus (EBV) is a DNA virus that has been infecting humans since ancient times, capable of causing a wide range of pathologies and affecting...
The Epstein-Barr virus (EBV) is a DNA virus that has been infecting humans since ancient times, capable of causing a wide range of pathologies and affecting approximately 90% of the population. A 61-year-old male with no significant medical history presented with a 5-day history of imbalance and difficulty walking. Neurological examination revealed specific findings, including absent reflexes, bilateral asynergy, and gait abnormalities. Contrasting with Guillain-Barré Syndrome, lumbar puncture suggested a central nervous system infection. Serological testing confirmed Epstein-Barr virus (EBV) positivity, and intravenous immunoglobulin led to significant improvement. Electromyogram results suggested inflammatory/ipnfectious polyradiculopathy. Repeat EBV serology, showing strongly positive IgG and negative IgM, confirmed the diagnosis of Polyradiculoneuropathy secondary to EBV. This case underscores the rare neurological complications of EBV and the importance of considering viral infections in such presentations.
PubMed: 38435902
DOI: 10.7759/cureus.53302 -
Oxford Medical Case Reports Jul 2023Eosinophilic granulomatous polyangiitis (EGPA) like other antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis has multisystemic involvement. It commonly...
Eosinophilic granulomatous polyangiitis (EGPA) like other antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis has multisystemic involvement. It commonly manifests with prodromal pulmonary involvement as asthma, chronic sinusitis followed by systemic vasculitic complications associated with blood and tissue eosinophilia. Central nervous system manifestations at presentation are uncommon compared with peripheral nervous system involvement. Vasculitic neuropathy in EGPA commonly presents as mononeuritis multiplex but rarely as polyradiculopathy. Late onset EGPA often presents with systemic involvement, and early diagnosis is a key to prevent further complications. The neuropathy in late onset EGPA is often refractory to immunosuppression and corticosteroids treatment. We report a case of EGPA with late onset asthma presenting with acute infarct and demyelinating polyradiculoneuropathy that progressed with bulbar paralysis and profound dysautonomia. This illustrates simultaneous involvement of central and peripheral nervous system with EGPA. Autonomic dysfunction can occur in patients of EGPA with multisystem involvement, which may predict severe complications.
PubMed: 37484549
DOI: 10.1093/omcr/omad067 -
Journal of the American Academy of... Nov 2023This case offers a safe and effective method for treating lumbopelvic dissociation in a pediatric patient with cauda equina syndrome using a triangular osteosynthesis...
This case offers a safe and effective method for treating lumbopelvic dissociation in a pediatric patient with cauda equina syndrome using a triangular osteosynthesis construct. After a high-speed accident, an 11-year-old girl was admitted to the hospital with bowel and bladder incontinence and bilateral lower extremity weakness. The orthopaedic trauma and spine teams elected for surgical treatment with a triangular osteosynthesis construct, a procedure usually reserved for adults. The surgery was uncomplicated, and the patient experienced complete resolution of her preoperative symptoms. She is doing well over 1-year postoperatively, with full neurologic recovery, maintained reduction, bony healing, and subsequent implant removal. To our knowledge, this is the youngest reported case of lumbopelvic dissociation treated in this manner and represents a viable treatment option.
Topics: Humans; Adult; Female; Child; Cauda Equina Syndrome; Polyradiculopathy; Decompression, Surgical; Spine; Fracture Fixation, Internal
PubMed: 37967093
DOI: 10.5435/JAAOSGlobal-D-23-00090