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.
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.
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.
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.
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