Nervous Involvement Research Articles

Involvement of the Trigeminal Nerve in Neurosarcoidosis: Clinical and Radiographic Correlates

Involvement of the Trigeminal Nerve in Neurosarcoidosis: Clinical and Radiographic Correlates

Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.

Biallelic variants in the ERLIN1 gene were recently reported as the cause of two motor neuron degeneration diseases, SPG62 and a recessive form of amyotrophic lateral sclerosis. However, only 12 individuals from five pedigrees have been identified so far. Thus, the description of the disease remains limited. Following the discovery of a homozygous pathogenic variant in a girl with SPG62, presenting with intellectual disability, and epilepsy, we gathered the largest series of SPG62 cases reported so far (13 individuals) to better understand the phenotype associated with ERLIN1. We collected molecular and clinical data for 13 individuals from six families with ERLIN1 biallelic variants. We performed RNA-seq analyses to characterize intronic variants and used Alphafold and a transcripts database to characterize the molecular consequences of the variants. We identified three new variants suspected to alter the bell-shaped ring formed by the ERLIN1/ERLIN2 complex. Affected individuals had childhood-onset paraparesis with slow progression. Six individuals presented with gait ataxia and three had superficial sensory loss. Aside from our proband, none had intellectual disability or epilepsy. Biallelic pathogenic ERLIN1 variants induce a rare, predominantly pure, spastic paraparesis, with possible cerebellar and peripheral nerve involvement.

Ultrasonographic abnormalities in clinically unaffected nerves of patients with nonvasculitic motor and sensorimotor mononeuropathies.

Diagnostic criteria for multifocal motor neuropathy (MMN) and multifocal acquired demyelinating sensorimotor neuropathy (MADSAM) require the involvement of at least two peripheral nerves. However, many patients with very similar features have clinical involvement of only a single peripheral nerve, which may preclude their correct diagnosis and treatment. The present study aimed to present a cohort of such patients and discuss the role of ultrasonography (US) in their diagnosis. Patients with nonvasculitic immune-mediated motor mononeuropathies (MM) and sensorimotor mononeuropathies (SMM) were recruited prospectively or identified from the electronic records. They were invited to comprehensive follow-up visits consisting of clinical examination, electrodiagnostic (EDx), and US studies. Twenty-four patients (13 men) were studied (11 with MM). The characteristics of MM and SMM patients were very similar to MMN and MADSAM, respectively. The US, in addition to a long-swollen segment (average length, 20 cm) in the clinically affected nerve, revealed nerve swelling in, on average, six additional sites in clinically unaffected nerves. In patients with clinical and EDx involvement of only a single nerve, an US demonstration of multifocal peripheral nerve swelling points to a more widespread, probably dysimmune mechanism. Further studies are needed to evaluate the value of US as a supplementary method for the diagnosis of MADSAM and MMN in patients with clinical involvement of a single nerve.

Craniovertebral Junction Tuberculosis, a Rare Presentation With Hypoglossal and Facial Nerve Palsy

Case: A 47-year-old man presented with neck pain, restricted neck movements, along with involvement of facial and hypoglossal nerve. On the basis of clinico-radiological correlation, the patient was diagnosed with craniovertebral junction tuberculosis and was started on antitubercular therapy (ATT). Failing the conservative trial, the patient was operated and occipitocervical fusion was done with bone grafting. After 12 months of ATT intake, he showed complete recovery of the facial and hypoglossal nerve, with complete resolution of instability pain. Conclusion: Craniovertebral junction tuberculosis is uncommon, and its manifestation with cranial nerves involvement is even more rare. Meticulous clinico-radiological assessment should be done to diagnose and plan the treatment. Early recognition and prompt initiation of ATT, along with timely surgical intervention, when necessary, are crucial for optimal management and outcomes.

Long-term outcomes and trends in elbow arthroplasty with Coonrad-Morrey prosthesis: a retrospective study in large group of patients.

Total Elbow Arthroplasty (TEA) was first developed to treat severe rheumatoid arthritis, but its uses have grown to encompass end-stage osteoarthritis, post-traumatic arthritis, and distal humeral fractures. This study analyzes indications changes, long-term survival, complications, and post-operative functional results of the Coonrad-Morrey prostheses, enhancing the existing literature on this technique and substantial case history. We included 122 arthroplasties in 117 patients, 28 males and 89 females (mean age of 67 years) treated in our hospital between 2002 and 2016. Minimum follow-up was four years. We collect functional parameters of 48 patients (51 elbows), due to death of patients due to old age and loss at follow-up. Survival rate at five years was 90%, 85% at 10 years and 83% at 15 years. The overall medium Mayo elbow score was 79.7 ± 18.3 with the highest result in osteoarthritis patients (p < 0.005); QuickDASH score was 33.1 ± 25.5 with the worse result in rheumatoid group. Average post-operative arc of motion (ROM) was 95°±27°. There were complications in 46 out of 122 cases (37.7%) and revision surgeries were performed in 12 of them (9.8%): seven aseptic loosening, four late septic loosening, one bushing wear. In 27 instances (22.1%) was reported ulnar nerve involvement. Coonrad-Morrey prosthesis has shown satisfactory clinical results in the treatment of a wide range of pathologies. The long-term implant survivorship was satisfactory, yet the occurrence of failures and complications cannot be overlooked, above all the ulnar nerve paresthesia. There was a good recovery in quality of life, pain-free with limited residual limb disability.

Idiopathic orbital inflammatory syndrome masquerading as isolated nerve palsies: A case series

Idiopathic orbital inflammatory (IOI) syndrome is a benign inflammatory condition resembling neoplasm, usually confined to the tissues of the eyes and the orbit. We discuss four such cases, all exhibiting similar patterns where the patients showed cranial nerve involvement, and reported an absence of pain or overt inflammation but a preceding history of headaches. In all the cases, the patient’s conditions rapidly improved with steroid administration. The reduction of inflammation was also confirmed via magnetic resonance imaging. This case series discusses the variable presentations of IOI syndrome and the role of conducting a biopsy.

Long-term effects of conventional radiofrequency in cases of trigeminal neuralgia

Objective: Trigeminal neuralgia (TN) is defined as severe, episodic pain occurring in one or more branches of the trigeminal nerve. Due to its long-term effect, radiofrequency thermocoagulation (RFT) is used as a first-line treatment. The first choice in the treatment of classical trigeminal neuralgia patients is medical treatment. Additionally, pregabalin and gabapentin are frequently used drugs. Surgical treatment is an option for Trigeminal Neuralgia that cannot be treated with medication, but there is no single method for this. Various surgical methods, such as Trigeminal Radiofrequency (RF) rhizotomy may be effective in treatment. Material and metods: The procedure is performed under operating room conditions and radiological imaging guidance. The patient is placed in the supine position, an IV line is established, and monitoring is initiated. After local field cleaning and sterile draping, optimal imaging is achieved using C-arm fluoroscopy with an ipsilateral 15° oblique and 30° caudal angle. A 22-gauge, 100 mm RF needle with a 5 mm active tip is directed towards the foramen ovale, and the tunnel view is checked. Results: In our study, the minimum age was 41 and the maximum age was 68. Additionally, 9 of the patients were female, and 2 were male. In our series, 9 patients had mandibular nerve involvement, and 2 had maxillary nerve involvement. In our series, 6 patients were using carbamazepine, 4 were using pregabalin, and 1 was using gabapentin. Medication treatment was discontinued in all patients after the procedure. As shown in Table 1, the VAS score decreased to 0 in 6 patients on the 15th day, to 2 in 4 patients, and to 1 in 1 patient. The VAS score exceeded 5 in 1 patient in the 2nd year and in 5 patients in the 4th year, and conventional RFT was repeated for these patients. The VAS score decreased to 0 in 6 patients on the 15th day, to 2 in 4 patients, and to 1 in 1 patient. The VAS score exceeded 5 in 1 patient in the 2nd year and in 5 patients in the 4th year, and conventional RFT was repeated for these patients. Pregabalin 75 mg was started for all patients between the recurrence of pain and the interventional procedure, and it was discontinued once the pain decreased after the procedure. No side effects were observed in the patients. Conclusion: The treatment of trigeminal neuralgia includes medical, surgical, and percutaneous interventional options. Conventional RF thermocoagulation is the first choice among other percutaneous interventional and surgical treatment options in TN treatment due to its selective lesion formation, minimally invasive nature, high success rate, low complication rate, and low cost.

A Study on the Systemic Inflammatory Index (SII) and Related Factors in Patients with Malignant Otitis Externa

Purpose: This study aims to investigate the relationship between systemic inflammatory index and various clinical and microbiological factors in patients with malignant otitis externa (MOE). Materials and Methods: In this retrospective study, patients diagnosed with MOE and treated between January 2017 and March 2023 were examined. The data include clinical evaluations, laboratory tests, and imaging results. All patients underwent computed tomography of the temporal bone, and MOE was staged according to Tengku's radiological classification .SII was calculated using neutrophil, platelet, and lymphocyte counts. Results: 11 patients were examined retrospectively, including 8 males (72.7%) and 3 females (27.3%). The mean age of the patients was 72.3±7.5 years. Comorbidities such as Diabetes Mellitus (DM) and Chronic Kidney Disease (CKD) were associated with higher SII values. CT phases and cranial nerve involvement were also related to high SII values. Microbiological analyses showed that pathogens such as Pseudomonas aeruginosa and Candida tropicalis were associated with high SII values. Conclusion: SII is an important biomarker in evaluating the prognosis and treatment response in MOE. Early diagnosis, a multidisciplinary approach, and personalized treatment strategies are critical in managing MOE. Further studies involving larger patient groups will contribute to validating these relationships and improving treatment processes.

Clinical characteristics analysis of 24 cases of pediatric MOG antibody-associated diseases

ObjectiveTo investigate the clinical characteristics of children with myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). MethodsA retrospective analysis was conducted on the clinical data, antibody tests, imaging, and factors associated with recurrence in 24 children diagnosed with MOGAD at Wuxi Children's Hospital from December 2017 to December 2023. ResultsAmong the 24 included children, the clinical characteristics at the onset of the first episode included fever (12 cases), headache (8), decreased vision (7), drowsiness (6), convulsions (5), ataxia (3), paralysis of both lower limbs (2), urinary and fecal incontinence (2), and central facial palsy (1). Among them, one case started with paralysis of both lower limbs and urinary retention, and electromyography suggested the involvement of peripheral nerves, leading to the diagnosis of MOG antibody-associated central and peripheral demyelinating syndrome (MOGAD-CCPD). Cranial MRI abnormalities were observed in 20 children, and spinal MRI abnormalities were noted in 6 children. All children responded well to corticosteroids and intravenous immunoglobulin, but 7 children experienced a relapse. Among them, 3 children achieved disease control after the addition of mycophenolate mofetil (CellCept), with no further relapses observed during follow-up. ConclusionThe disease course of MOGAD can be monophasic or relapsing. Most children have a good response to acute phase treatments. For those who relapse, immunosuppressants can be added as maintenance therapy, and the clinical prognosis is generally good. This article reports the first highly rare case in China of MOGAD-CCPD in childhood, suggesting that MOG IgG may serve as a potential biomarker associated with CCPD.

Isolated Primary Central Nervous System Lymphoma of the Optic Nerve: A Case Report and Review of the Literature.

Optic nerve involvement in primary central nervous system lymphoma (PCNSL) has been reported only a few times in the literature, with generally dismal outcomes. We focused on an extremely rare presentation of PCNSL in an immunocompetent patient with isolated manifestations of the optic nerve. A 72-year-old man presented with subacute vision loss in his left eye and optic disc swelling. Initial magnetic resonance imaging (MRI) of the orbits revealed a T2 hyperintense signal with enhancement of the left prechiasmatic optic nerve, suggestive of optic neuritis. He experienced visual improvement after 6 weeks of prednisone. However, 2 months after steroid tapering, he presented with worsening left-eye vision loss and new right-eye vision loss with imaging showing a peripherally enhancing chiasm lesion. A biopsy of the left optic nerve confirmed diffuse large B-cell lymphoma and negative systemic imaging was consistent with PCNSL. He was treated with high-dose methotrexate, rituximab, procarbazine vincristine (R-MVP), and cytarabine (AraC) with some visual improvement in the right eye and resolution of previously seen enhancement on MRI. The patient is in remission with no further deterioration of his vision. This is the first reported case of isolated optic nerve involvement with a durable response to chemotherapy. This case emphasizes the importance of considering malignancy and maintaining a low threshold for optic nerve biopsy in patients with atypical cases of severe steroid-refractory vision loss with enhancement or enlargement of the optic nerve on MRI. Standard chemotherapy regimens for PCNSL can potentially achieve a curative response in these patients.

Cranial nerve palsies in leprosy: a systematic review of published case reports and case series.

In leprosy, peripheral nerve involvement is well-documented, cranial nerve impairment in leprosy is less frequently reported, often through isolated case reports. This review aims to elucidate the pattern and spectrum of cranial nerve involvement in leprosy patients, enhancing understanding about pathogenesis and management. Adhering to PRISMA guidelines, we conducted a systematic review of case reports and series documenting cranial nerve involvement in leprosy. Searches were performed across PubMed, Scopus, Embase, and Google Scholar up to February 2, 2024, without language restrictions. We identified 40 documents reporting on 49 patients, with a mean age of 41.3 years and a predominance of male patients (87.6%). Cranial nerve involvement included the trigeminal nerve (28.6%), facial nerve (38.8%), and instances of multiple cranial nerve palsies (10.2%). Magnetic resonance imaging findings indicated nerve T2/FLAIR hyperintensity/enhancements. Neuroimaging abnormalities extended up to brain stem. Approximately 30% of patients experienced lepra reactions, with 51% showing improvement following treatment. Following mutidrug therapy (MDT), neuroimaging abnormalities were vanished. Cranial nerve involvement in leprosy primarily affects the trigeminal and facial nerves, with multiple cranial nerves also being implicated. Exaggerated inflammation during lepra reaction involve nerve trunks and/or brainstem nuclei.

Comprehensive Analysis of Garcin Syndrome: A Systematic Review of the Etiology, Diagnosis, and Treatment.

Garcin syndrome is a rare neurological condition characterized by progressive unilateral involvement of multiple cranial nerves, without typical intracranial hypertension. It is often linked with aggressive malignancies and invasive infections; hence, it presents significant diagnostic and therapeutic challenges. Despite the advances in medical technology, the prognosis still remains poor, and there is limited literature on comprehensive reviews regarding its etiology, diagnosis, and management. A Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA)-based systematic review was performed in order to compile updated evidence related to Garcin syndrome. The PubMed and Scopus databases were comprehensively searched using the search terms "Garcin syndrome" AND ("etiology" OR "diagnosis" OR "treatment" OR "management"). Information was obtained from case reports and focused on common etiologies, clinical presentations, diagnostic methodologies, treatment protocols, and outcomes. The review discussed very diverse etiologies of Garcin syndrome. The most common among these were skull base tumors, metastatic lesions, and invasive infections like mucormycosis. Most of these were multiple cranial nerve (CN) involvements in which CN V (trigeminal nerve), CN VII (facial nerve), or CN XII (hypoglossal nerve) involvement was common. Advanced imaging, especially MRI, played a very crucial role in diagnosis, showing the presence of extensive bony destruction with the involvement of cranial nerves. Treatment was varied according to the etiology, ranging from chemotherapy and radiotherapy in neoplastic cases to active surgical intervention supported by antifungal therapy in infected cases. Garcin syndrome is a clinical challenge due to its diverse etiologies and complex management profile. While early diagnosis and intervention are emphasized, the prognosis remains grave, especially in cases presenting with metastatic disease or immunocompromised states. Future research should focus on better, more sensitive diagnostic modalities and the investigation of newer therapeutic approaches for Garcin syndrome patients.

A Case Report of Systemic Lupus Erythematosus Presenting as Isolated Mononeuropathy Multiplex.

Mononeuropathy multiplex is a pattern of progressive sensory and motor deficits in the distribution of two or more peripheral nerves. The differential for mononeuropathy multiplex includes vasculitis, autoimmune disorders, infectious diseases, sarcoidosis, amyloidosis, cryoglobulinemia, and paraneoplastic disease. We present a case of a 42-year-old woman with hypothyroidism who presented with 1week of ascending numbness and weakness, persistent fevers, and 3months of constant burning pain in both feet. Her neurologic exam was notable for asymmetric weakness, loss of sensation, and diminished reflexes of her lower extremities. Other than mild fever and tachycardia, there were no systemic exam findings. Her laboratory workup was significant for elevated inflammatory markers, positive ANA, anti-ribonucleoprotein, smooth muscle antibody, and lupus anticoagulant, high anti-dsDNA titers, and low complement levels. An MRI of her lumbar spine was negative for lumbosacral nerve root pathology. Cerebrospinal fluid studies demonstrated normal cell counts, glucose, and protein and no evidence of infection. An electromyography (EMG) and nerve conduction studies (NCS) demonstrated asymmetric involvement of multiple individual peripheral nerves. Given the patient's symptoms, asymmetric exam findings, laboratory results, and EMG/NCS findings, she was diagnosed with mononeuropathy multiplex secondary to systemic lupus erythematosus (SLE) and started on steroid and immunosuppressant therapy with symptomatic improvement. Overall, this case illustrates the unique presentation of mononeuropathy multiplex as the initial manifestation of SLE. The identification of this specific type of neuropathy may play a crucial role in the prompt diagnosis of SLE and timely initiation of treatment, preventing further complications of the disease.

Neurolymphomatosis mimicking a Guillain–Barré syndrome triggered by COVID‐19 vaccination

Guillain–Barré syndrome (GBS) is an acute disorder of the peripheral nervous system, causing flaccid paralysis, areflexia, and variable sensory involvement. Proximal as well distal muscles of the limbs can be involved, and in most severe and advanced cases progresses to respiratory failure and death. GBS is considered an autoimmune disease, and at the basis of the attack at the peripheral nervous system different mechanisms have been recognized, in particular viral infections or other immune stimulations. Cranial nerve involvement in patients with diffuse large B‐cell lymphoma (DLBCL) and primary central nervous system lymphoma are rare conditions that could present with similar clinical features. Here we present a case of a 36‐year‐old man hospitalized for acute polyradiculoneuritis of the cranial nerves and lumbar roots that arose a 14 days after severe acute respiratory syndrome COVID‐19 2 (Sars‐CoV‐2) vaccination. Most of the main criteria for the diagnosis of GBS were met, including clinical and electrophysiological criteria. Albuminocytologic dissociation and high protein level in cerebrospinal fluid were also found. Therefore, the patient was treated with a cycle of intravenous immunoglobulin (IVIG) with notable improvement of symptoms and gradual recovery of motility. A five months later, following SARS‐CoV‐2 infection, the patient presented with worsening of neurological symptoms and was readmitted to the hospital. He underwent instrumental tests again and was treated with repeated cycles of IVIG and then with a cycle of plasmapheresis without any improvement. In the following 10 days he developed very serious conditions; he was transferred to intensive care unit and deceased after 6 days. The cause of the neurological syndrome was determined only after autoptic analysis, which revealed the presence of primary peripheral nervous system (PNS) DLBCL. The reported case highlights that GBS‐like presentation always requires a careful differential diagnosis, and physicians should also consider the possibility of an occult cancer.

Unveiling the Unconventional: Exploring Atypical Manifestations of Scrub Typhus

Scrub typhus is a rickettsial illness caused by Orientia tsutsugamushi. It is a common cause of undifferentiated febrile illness, especially in the Indian subcontinent, usually with multiorgan involvement, though central nervous involvement is rare. Here, we demonstrate a case of a young female who presented with fever, headache, vomiting, and seizures. Her examination was remarkable for generalized blanchable macular rash, opsoclonus–myoclonus along with neck rigidity and mild epigastric tenderness. Contrast-enhanced magnetic resonance imaging brain was suggestive of leptomeningitis. She also had mild pancreatitis, transaminitis, thrombocytopenia, and transaminitis. Given the ongoing tropical fever burden in Northern India, further workup was done and enzyme-linked immunosorbent assay anti-scrub typhus immunoglobulin M came as positive. Doxycycline along with supportive treatment was started, and all signs and symptoms improved gradually.

Trigeminal neuralgia, demyelinating polyneuropathy, and central nervous system involvement in a patient with an SH3TC2 mutation

Abstract Background Charcot-Marie-Tooth type 4C (CMT4C) is a slowly progressive, autosomal recessive, sensorimotor polyneuropathy characterized by demyelination and distinct clinical features, including cranial nerve involvement. CMT4C is associated with pathogenic mutations in the SH3TC2 gene. Methods A patient presenting with gait instability due to demyelinating polyneuropathy and refractory trigeminal neuralgia underwent comprehensive evaluation. Nerve conduction studies, magnetic resonance imaging (MRI) of the brain, cervical spine, and thoracic spine, lumbar puncture, and genetic test through next generation sequencing were performed. Results The genetic test found an Arg1109Stop mutation in the SH3TC2 gene, associated with demyelinating polyneuropathy and cranial neuropathy. Interestingly, brain MRI showed multiple, nonenhancing white matter hyperintensities. This is the first case of CMT4C associated with white matter lesions. Conclusion Any patient with slowly progressive peripheral nervous system symptoms and disproportionally abnormal nerve conduction study findings should be tested for an inherited polyneuropathy and brain imaging for screening of possible central nervous system involvement should be performed. Further investigation is needed to elucidate the pathogenetic basis of CMT4C and a possible association with white matter lesions.

Exploring the Utility of High-Resolution Ultrasonography and Color Doppler of Peripheral Nerves in Monitoring Response to Treatment in Leprosy Patients: A Prospective, Observational Study.

Diagnosis and monitoring of nerve function impairment (NFI) presents an ongoing challenge in global leprosy control. This was a prospective, observational study in leprosy patients receiving treatment with cutaneous and neurological examinations done every 3 months for 1 year. High-resolution ultrasonography and color Doppler (HRUS-CD) was performed in all patients at baseline, completion of treatment, and anytime during the study period if a patient had deterioration of nerve function noted clinically. All peripheral nerves were assessed, and parameters studied were cross-sectional area (CSA), length of thickening, endoneural flow signals (ENFS), and distortion in fascicular symmetry. Of 54 treatment-naive leprosy patients, loss of sensation was noted in 37 (68.5%), paresthesia in 20 (37.0%), and neuropathic pain in 7 (12.9%) at baseline presentation. At end of treatment of leprosy, maximum improvement in NFI across all clinical criteria was seen in ulnar and radial nerves (P <0.05). The number of impairments on HRUS-CD decreased consistently, significantly for ulnar (P = 0.009 right ulnar, P = 0.012 left ulnar) and right radial (P = 0.025) nerves, and significant improvements in CSA and ENFS were seen across multiple nerves, which correlated with improvement in NFI as well. Abnormal HRUS-CD findings in the target nerves were significantly associated with multibacillary cases (odds ratio [OR]: 4.33; 95% CI: 0.62-30.31), those in reaction (OR: 9.42; 95% CI: 1.51-58.66), and those older than 40 years (OR: 3.14; 95% CI: 0.49-19.93). This study provides objective evidence of improvement in NFI with anti-leprosy treatment, supporting integration of HRUS-CD imaging in monitoring nerve involvement in leprosy.

Early differential diagnosis between acute inflammatory demyelinating polyneuropathy and acute-onset chronic inflammatory demyelinating polyneuropathy in children: Clinical factors and routine biomarkers

BackgroundTo identify clinical factors and biomarkers that could contribute to early differential diagnosis of acute inflammatory demyelinating polyneuropathy (AIDP) and acute-onset chronic inflammatory demyelinating polyneuropathy (A-CIDP) in the pediatric population, with limited evidence. MethodsWe conducted an observational retrospective study of children diagnosed with AIDP and A-CIDP between January 2014 and December 2022. Demographic data, clinical features, and routine biomarkers were also analyzed. Statistical analysis was used to identify significant features with high sensitivity and specificity. ResultsWe included 91 AIDP and 17 A-CIDP patients. The A-CIDP group had an older median age (6.33 vs. 4.33 years, p = 0.017), required more complex immunotherapies (p < 0.001), and showed a longer time to nadir over 2 weeks (76.5 % vs. 7.7 %, p < 0.001). Gastrointestinal dysfunction (29.4 % vs. 6.59 %, p = 0.014) and numbness (35.3 % vs. 12.1 %, p = 0.027) were more prevalent in A-CIDP. The AIDP patients had a longer median hospitalization stays (13 vs. 11 days, p < 0.05), more prodromal events (90.1 % vs. 64.7 %, p = 0.013), and more frequent cranial nerve palsy (61.5 % vs. 5.88 %, p < 0.001). The disability scores on admission, discharge, and peak were worse in the AIDP group (p < 0.001). AIDP patients showed higher cerebrospinal fluid protein (p = 0.039), albumin quotient (p = 0.048), leukocytes (p = 0.03), neutrophils (p = 0.010), platelet count (p = 0.005), systemic inflammatory index (SII) (p = 0.009), and gamma-glutamyl transferase (p = 0.039). Multivariable regression identified two independent predictors of early A-CIDP detection: time from onset to peak beyond 2 weeks (OR = 37.927, 95%CI = 7.081–203.15) and lower modified Rankin Scale score on admission (OR = 0.308, 95%CI = 0.121–0.788). ConclusionOur study found that when the condition continued to deteriorate beyond two weeks with a lower mRS on admission and possibly less cranial nerve involvement, we may favor the diagnosis of pediatric A-CIDP rather than AIDP.

Ethambutol induced optic neuropathy: A remerging ocular emergency needing strict vigilance and screening

: To investigate the clinical manifestations and incidence of ethambutol induced optic neuropathy (EON) and identify its risk factors.: A cross sectional, hospital based observational study was conducted in 100 patients, who were on anti-tubercular drugs (ATT) and complained of diminution of vision. The following data was collected in every patient regarding age, gender, co-morbid conditions, clinical manifestation of (tuberculosis)TB, duration and dose of ethambutol. Complete ophthalmic examination was conducted in every patient including best corrected visual acuity (BCVA), color vision, relative afferent pupillary defect (RAPD), fundus examination, visual field analysis and OCT RNFL &amp; GCL. Statistical analysis of the data was done and represented suitably using appropriate statistical tests that included Chi Square test for checking associations and T test for comparing quantitative data with the help of SPSS ver. 26.0 software. All p-values reported were two sided and a value less than 0.05 was considered significant. :Out of 100 patients, only 18 patients were diagnosed with EON and calculated incidence was 1.8%. The most common presenting feature of EON was bilateral diminution of vision (89%) followed by abnormal color vision (11%). On examination, RAPD was seen in 40% cases because of asymmetrical optic nerve involvement and disc abnormality was present in 66% cases. The duration and dose of ethambutol medication, advanced age (&amp;#62;65 years), hypertension, chronic smoking and presence of renal dysfunction were shown to be positively correlated with EON development.:At present, there is no effective treatment for EON except supplementation of zinc, copper, methylcobalamine and pyridoxine. Therefore, early detection and discontinuation of ethambutol is only way to prevent permanent loss of vision, as in early stage it is reversible.

Clinical and biochemical characterization of asymptomatic carriers and symptomatic patients with hereditary transthyretin amyloidosis caused by TTR V30L mutation.

Hereditary transthyretin amyloidosis (ATTR) is an autosomal dominant disease characterized by amyloid fibril deposition. The TTR c.148G > T mutation (V30L) in ATTR is rarely reported, and its biochemical properties are unknown. Seven patients and two asymptomatic carriers from two unrelated families diagnosed with V30L variant of ATTR were included. Data on clinical manifestations, laboratory examination, electrophysiology, ophthalmological corneal confocal microscopy (CCM), pathology and molecular biological experiments was collected and analyzed. Most patients initially experienced paresthesia, with varying degrees of peripheral neuropathy, autonomic dysfunction, and cardiac involvement. Nerve conduction studies showed extensive motor and sensory nerve involvement in upper and lower limbs. CCM revealed reduced corneal nerve density and fiber length. Sural nerve biopsies indicated loss of myelinated nerve fibers, with neurogenic patterns in gastrocnemius muscle biopsies. Asymptomatic carriers had nearly normal electrophysiology but mild reductions in corneal nerve fiber density and length. Sural nerve biopsies in carriers showed mild reductions in small myelinated nerve fibers. V30L mutation impaired thermodynamic and kinetic stability of the mutant protein. Plasma TTR tetramer concentration was lower in ATTR V30L patients compared to healthy donors. Small molecule stabilizers failed to exhibit satisfactory inhibition on fibril formation of V30L mutation in vitro. This study highlights the multisystem involvement in ATTR V30L patients, including neuropathy and cardiac issues. Both patients and carriers showed abnormalities in nerve conduction, corneal microscopy, and pathology. The V30L mutation impaired protein stability and reduced plasma TTR tetramer levels. Small molecule stabilizers were ineffective, indicating a need for alternative treatments.