Background Myotonic dystrophy type 1 (DM1) is a multisystemic disorder caused by CTG repeat expansion in the DMPK gene. Brain involvement in DM1 has been reported, but quantitative imaging data is limited. This study aimed to characterize and quantify brain structural abnormalities in DM1 using MRI and DUIH-Image software.
Methods Sixteen patients with classic DM1 (10 male, 6 female; age range 17–68 years) underwent genetic testing, neuropsychologic assessment, and brain MRI. FLAIR images were analyzed using DUIH-Image software to quantify brain lesions and create probabilistic lesion maps.
Results FLAIR imaging revealed hyperintensities predominantly in periventricular and subcortical white matter. Probabilistic lesion maps highlighted the subcortical white matter near the anterior horn as the most affected site, with additional involvement of the posterior horn, frontal, insular, parietal, and temporal cortices. Neuropsychological testing identified frontal lobe dysfunction as the most common deficit, correlating with brain involvement. No significant correlations were found between lesion load, CTG repeat number, and disease duration.
Conclusions This study demonstrates significant periventricular and subcortical white matter involvement in DM1, with the anterior subcortical white matter being the most affected site. Frontal lobe dysfunction was a frequent finding. Brain involvement did not correlate with CTG repeat number or disease duration, suggesting complex pathophysiology in DM1-related brain abnormalities.
Postherpetic neuralgia (PHN) is a chronic neuropathic pain syndrome that persists for more than three months after the resolution of herpes zoster rash. This condition affects approximately 30% of the population, primarily the elderly and immunocompromised individuals. PHN can be severely debilitating and often proves challenging to treat effectively. Recent advances in prevention and treatment have improved the management of PHN. The introduction of herpes zoster vaccines has shown promise in reducing the incidence of both herpes zoster and PHN. Current treatment guidelines recommend a multimodal approach, with effective therapies including tricyclic antidepressants, topical lidocaine, gabapentin, pregabalin, opioids, and topical capsaicin. This review focuses on optimizing treatment strategies and developing novel therapies to further enhance PHN management.
Tolosa-Hunt syndrome (THS) is a rare neurological disorder characterized by painful ophthalmoplegia due to idiopathic granulomatous inflammation of the cavernous sinus or orbital apex. This review aims to summarize recent advances in the etiology, diagnosis, and management of THS.
Critical illness neuromyopathy (CINM) is a common yet frequently overlooked complication in intensive care units (ICU). CINM often results in prolonged ventilator dependence and persistent limb weakness, significantly impacting patient recovery and long-term quality of life. CINM can be categorized into two primary subtypes: critical illness polyneuropathy (CIP) and critical illness myopathy (CIM). These conditions frequently arise in the context of severe sepsis, multiple organ failure, or as adverse effects of certain medications used in the ICU. This review aims to provide a concise overview of CINM, focusing on its pathophysiology, diagnostic approaches, and current clinical management strategies.
Invasive fungal infection remains a major cause of morbidity and mortality in immunocompromised patients. Invasive fungal sinusitis can present as a Tolosa-Hunt syndrome (THS) or orbital apex, leading to frequent misdiagnosis. Accurate diagnosis of fungal infection invading the cavernous sinus or orbital apex is essential to reduce mortality through early antifungal treatment and reduce the risk of worsening with steroid treatment due to misdiagnosis of THS. Herein, we report a case of invasive fungal sinusitis mimicking THS.
Background The younger generation in Korea easily exposed to nitrous oxide (N2O) under the name “Happy Balloon” may abuse it. N2O can irreversibly oxidize vitamin B12 and cause abnormal hematopoiesis or nervous system toxicity such as subacute combined degeneration (SCD). The objective of this study was to assist in early diagnosis of N2O-induced SCD of spinal cord by characterizing its clinical manifestations.
Methods Four patients with myelopathy after abusing N2O were enrolled. To characterize N2O-induced myelopathy, previously reported cases of N2O-induced SCD were searched through PubMed and KoreaMed. Collected cases and our four patients were analyzed.
Results A total of 30 patients with N2O-induced myelopathy (26 males and 4 females with mean age of 24 years) were analyzed. These patients took a median dose of 650 canisters for a median duration of 3.5 months. All patients presented sensory disturbances, which involved the lower extremities more frequently (100%) than the upper extremities (63.3%). Gait ataxia (76.7%), weakness in the upper (23.3%) and lower (36.7%) extremities, bladder symptoms (26.7%), Rhomberg sign (43.3%), and Lhermitte’s phenomenon (10.0%) were observed. Serum vitamin B12 levels were decreased in many (63.3%) patients and homocysteine levels were elevated in all. Of 20 patients who underwent magnetic resonance imaging (MRI) of the spine, 19 had abnormal findings. Three patients presented with contrast enhancement in lesions.
Conclusions We strongly recommend that history of N2O abuse should be asked for young patients with suspected myelopathy, especially those presenting with gait ataxia and sensory disturbances suggesting posterior column dysfunction and those presenting long-segment lesion involving the upper cervical cord on MRI.
Trigeminal neuralgia (TN) is a highly disabling disorder characterized by very severe, brief, electric shocks, like recurrent episodes of facial pain. New diagnostic criteria classifying TN on the basis of the presence of trigeminal neurovascular conflict or an underlying neurological disorder can help better characterize patients and determine treatments. Magnetic resonance imaging using specific sequences should be a part of the diagnostic workup to detect a possible neurovascular contact and exclude secondary causes. Carbamazepine and oxcarbazepine are drugs of first choice for long-term treatment, whereas microvascular decompression is the first-line surgical management of medically refractory patients. This review aimed to review the classification, clinical features, pathophysiology, diagnostic approaches, and management of TN.
Spinal and bulbar muscular atrophy (Kennedy disease) is an X-linked, adult-onset motor neuron disease characterized by slow, progressive weakness of the bulbar and extremity muscles with CAG triplet repeat expansion in the androgen receptor gene. Hirayama disease (HD) is characterized by the juvenile onset of asymmetric weakness and amyotrophy of the hand and is most common in males in Asia. We report a patient with atypical Kennedy disease presenting with asymmetric hand weakness and atrophy typical of HD.
Visual evoked potentials (VEPs) are especially useful for evaluating patients with visual pathway involvement but no objective findings on ophthalmic examination. To apply VEPs appropriately in clinical practice, clinicians should be well aware of the standard test techniques and various factors affecting the interpretation of VEPs to detect visual pathway abnormalities. This article summarizes the method for recording VEPs and the technical and physiologic factors associated with VEPs.
Bell’s palsy is an acute peripheral facial paralysis with no detectable cause. Although the prognosis of Bell’s palsy is generally good, some patients experience poor recoveries and there is no established treatment for those that do not recover even after receiving the conventional treatment. Here we present two cases of refractory Bell’s palsy with facial nerve enhancement in magnetic resonance imaging who showed symptomatic improvement after the late administration of high-dose intravenous methylprednisolone.
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Development of the Korean Medicine Core Outcome Set for Facial Palsy: herbal medicine treatment of patients with facial palsy in primary clinics Soo-Dam Kim, Sungha Kim, Mi Ju Son, Jiyun Cha, Pyung-Wha Kim, Mi Mi Ko, Soobin Jang, Changsop Yang, Myeong Soo Lee Frontiers in Medicine.2024;[Epub] CrossRef
Critical illness neuromyopathy (CINM) is a common but frequently underdiagnosed condition in critically ill patients that contributes to ventilator weaning failure and limb weakness in intensive care unit (ICU). CINM is subdivided into critical illness polyneuropathy and critical illness myopathy, and the occurrence of these conditions in the ICU is associated with multiple organ failure due to sepsis or certain medications. CINM survivors might have persistent functional disabilities and a poor quality of life. This situation demonstrates the need for efforts to minimize or prevent CINM in critically ill patients. This article provides a current overview of CINM and the associated clinical strategies.
A 21-year-old soldier was admitted due to weakness after carrying a heavy military bag and marching for a long time. Neurophysiologic investigation revealed prominent involvement of right brachial plexus and upper cervical root with mild abnormalities of multiple nerves in the other extremities. Hereditary neuropathy with liability to pressure palsy was confirmed by gene test demonstrating deletion of PMP22 gene. This study presents backpack palsy can appear as a first manifestation of hereditary neuropathy with liability to pressure. The possibility of hereditary neuropathy with liability should be strongly considered in a young patient with non-symptomatic multiple neuropathy.
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that is characterized by progressive death of motor neurons in the cortex, brainstem, and spinal cord. Until now, many treatment strategies have been tested in ALS, but so far only Riluzole has shown efficacy of slightly slowing disease progression. The pathophysiological mechanisms underlying ALS are multifactorial, with a complex interaction between genetic factors and molecular pathways. Other motor neuron disease such as spinal muscular atrophy (SMA) and spinobulbar muscular atrophy (SBMA) are also progressive neurodegenerative disease with loss of motor neuron as ALS. This common thread of motor neuron loss has provided a target for the development of therapies for these motor neuron diseases. A better understanding of these pathogenic mechanisms and the potential pathological relationship between the various cellular processes have suggested novel therapeutic approaches, including stem cell and genetics-based strategies, providing hope for feasible treatment of ALS.
Background Myasthenia gravis (MG) and systemic lupus erythematosus (SLE) are well recognized to coexist and have some similarities in immunologic, clinical and serologic findings. Despite several reports of the association with autoantibodies and thymectomy in these disorders, the pathomechanism of coexistence remains to be elucidated.Objective: We aimed to investigate the relationship of MG and SLE through overall features of patients with both disorders;: clinical, laboratory, and electrophysiological findings.Materials and Methods: We reviewed the medical records of 6 consecutive patients with MG and SLE (2 men, 4 women, ages 17-51, mean 30.5 years, Seoul National University Hospital, from 1998 to 2005).Results: Three patients who developed SLE first, had ocular type of MG and 2 were children showing much severe and recurrent SLE features and only 1 patient had thymic hyperplasia. The other 3 developed MG first and they were generalized type and none underwent thymectomy. In addition, the development of MG or SLE was not coincident with remission or improvement of another disorder.Conclusion: The coexistence of SLE and MG may support the hypothesis of two different antibody populations modulated by thymus in the opposite extremesThis report suggests that the systemic and extensive autoimmune response in preceding MG or SLE may effect the development of the other disorder followed, while. the coexistence of two disorders cannot be explained by the hypothesis of two different antibody populations modulated by thymus in the opposite extremes The role of thymectomy and the theorectical subsequent effect on the development of SLE have been debated with controversy. However, SLE occurred without thymectomy in MG and these disorders did not develop in the quiescent period of another disorder. Therefore, the other pathomechanism for the coexistence of MG and SLE should be elucidated.
Background The most distal sensory fibers of the feet are often affected first in polyneuropathy. However, they are not evaluated in routine nerve conduction studies. Thus we evaluated the dorsal sural sensory nerve in patients with sensorimotor polyneuropathy with normal sural response, in order to assess the usefulness in electrodiagnostic practice.Methods: In this study, 53 healthy subjects and 27 patients with clinical evidence of sensorimotor polyneuropathy were included. In all subjects, peripheral motor and sensory nerve studies were performed on the upper and lower limbs including dorsal sural nerve conduction studies. On electrodiagnostic testing, all patients had normal sural responses.Results: The dorsal sural sensory nerve action potentials (SNAPs) mean amplitude was 13.12
Nemaline myopathy is one of the congenital myopathy, which is characterized by histological findings of nemaline bodies (rods) and type 1 fiber hypotrophy and predominance. It can be classified into three forms according to the age of onset and clinical features: congenital form, childhood-onset form, and adult-onset form. We report an 18-year-old patient with generalized muscle weakness and dysmorphic features who was diagnosed as typical childhood-onset nemaline myopathy.
Miyoshi myopathy (MM) is caused by the mutations of dysferlin gene (DYSF), which impairs the function of dysferlin protein causing muscle membrane dysfunction. We report a patient showing the MM phenotype who has a sister with LGMD 2B phenotype, along with the results of the immunohistochemical and molecular analyses of the DYSF gene. Immunohistochemical analysis noted negative immunoreactivity against dysferlin. Direct DNA sequencing of whole exons of DYSF gene revealed heterozygous nonsense mutations (c.610C>T + c.2494C>T). To our knowledge, this is the first reported MM case with this very combination of heterozygous mutations.
We report a 53-year-old male having Kennedy disease who complained of severe bilateral tinnitus and autophony. He wasdiagnosed as patulous Eustachian tube based on the observation of fluttering motion of the tympanic membrane associatedwith respiration, which is presumed to occur secondary to bulbar weakness. The patulous Eustachian tube affected the managementof his respiratory problem by impairing his ability to tolerate BiPAP. We report this rare condition with a literaturereview.
Amyotrophic lateral sclerosis (ALS) is a degenerative central nervous system disorder caused by death of motor neurons in the brain and spinal cord. The clinical syndrome is characterized by muscle weakness, often beginning focally and gradually progressing over 1 or more years to involve muscles diffusely. The diagnosis is established by documenting clinical evidence of both upper and lower motor neuron dysfunction and by performing diagnostic tests to exclude many other disorders of the central and peripheral nervous system that might alternatively account for the clinical presentation. The revised El Escorial criteria for ALS may be useful for patients participating in research studies. Recognition of clinical features, clinical variants, and mimicking disorders is important because several are potentially treatable or may not carry the same grave prognosis as ALS and the precise diagnosis of ALS can promote more clinical trials for ALS.
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a common mitochondrial disease that can cause a wide range of clinical symptoms. We describe a 26-year-old woman diagnosed with MELAS presenting recurrent episodes of seizures, right sided weakness, visual field defect, and cognitive decline. These recurrent symptoms improved after high dose corticosteroid treatment, and three months’ maintenance of steroid prevented further recurrence of encephalopathy. Corticosteroid therapy may be beneficial during acute exacerbation of MELAS.
The nerve conduction studies and electromyography become essential tools in the diagnosis of neurological disorders. These electrophysiological studies may be obscured by many technical or physiologic errors. Proper performance of electrophysiological study must be preceded its interpretation of clinical implication. Physicians and technicians must know various technical and physiologic factors affecting these neurophysiologic studies and have the ability to find the problematic factors and to adjust them for optimal studies.
Rational targets for autoimmune neuromuscular disease have been identified with the progress of our understanding of the cellular and molecular process underlying autoimmune neuromuscular disease. Although antigen-specific immunotherapy is not available, effective immunotherapy for most autoimmune disorders is provided with old and new immunomodulatory treatments, alone or in combination. The achievements of more specific yet largely experimental therapeutic tools need to be tested in the human diseases. Here we review the principles and targets of immunotherapy for autoimmune neuromuscular disorders, applications, and practical guidelines, and give an outlook on future developments.
Brachial plexopathy secondary to prolonged malpositioning of the upper extremity is a rare but well-known post-operative complication with potentially significant medico-legal implications. The rise in the number of laparoscopic and robotic procedures requiring prolonged periods in Trendelenburg may lead to the increased incidence of this condition. We present three patients with reversible injury to the upper trunk of the brachial plexus that developed during laparoscopic gynecologic surgeries performed in the Trendelenburg position
Neuromuscular weakness occurs very commonly in critically ill patients and is a common cause of failure to wean from the ventilator and decreased limb movements. A rational approach to weakness will help to identify the causes of neuromuscular weakness in the intensive care unit (ICU). The most common acquired causes of weakness in the critically ill patient in the ICU are critical illness neuromyopathy (CINM) including critical illness polyneuropathy and critical illness myopathy. The majority of survivors with CINM have persistent functional disabilities and a reduced quality of life. There are needs for new therapeutic strategies to prevent or minimize CINM in critically ill patients. This article will focus on the diagnostic strategy of CINM, identified risk factors, several proposed pathomechanisms and their clinical implications.
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