Mixed connective tissue disease (MCTD) is a chronic autoimmune disease, which has a broad range of clinical manifestations shared by systemic lupus erythematosus, systemic sclerosis, polymyositis/dermatomyositis, and rheumatoid arthritis. MCTD is featured with high serum titers of anti-ribonucleoprotein antibodies and multiple system involvement. Its spinal cord involvement mainly manifests as transverse myelopathy (TM) and longitudinal extensive transverse myelopathy (LETM). Myelopathy in MCTD is extremely rare, and is usually characterized by serious neurological complications, such as paralysis or muscular paresis, sensory impairment, and smooth muscle dysfunction. Progressive clinical manifestations combined with laboratory examinations and magnetic resonance imaging examinations play important roles in the diagnosis of this disease. In order to prevent permanent neurological damage to the spinal cord, plasmapheresis and intravenous immunoglobulin can be performed in patients at the early disease stage. Early high-dose corticosteroids combined with cyclophosphamide, followed by low doses of immunosuppressors, can improve the long-term prognosis of patients. There are only nine global cases reported on MCTD associated with myelopathy at present. The death rate and disability rate of myelopathy in MCTD are extremely high. In this review, the pathomechanisms, clinical manifestations, auxiliary examination, diagnosis, differential diagnosis, treatment, and prognosis of myelopathy in MCTD were systematically elucidated.
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http://dx.doi.org/10.1007/s10072-019-03935-y | DOI Listing |
J Oral Facial Pain Headache
September 2024
Aragon Dental Clinic, Faculty of Higher Studies Iztacala, National Autonomous University of Mexico, 057130 Nezahualcóyotl, EM, Mexico.
Trigeminal neuralgia (TN) usually affects the maxillary and mandibular branches of the fifth cranial nerve. Although the condition is primarily unilateral, few cases of bilateral manifestation have been reported. TN is uncommon; however, it significantly affects patients' quality of life because the neuropathic pain worsens over time.
View Article and Find Full Text PDFEndometriosis is a chronic disease characterised by the presence of endometrial tissue outside the uterine cavity, affecting 5-15% of women, especially those of reproductive age. The disease may manifest itself as dysmenorrhoea, dyspareunia, sterility and chronic pelvic pain, among other symptoms. Although it is not malignant, it shares some characteristics with cancer and can lead to epithelial ovarian carcinoma.
View Article and Find Full Text PDFTuberc Respir Dis (Seoul)
January 2025
Department of Pulmonary and Critical Care Medicine, Ajou University School of Medicine, Suwon, Korea.
Connective tissue disease (CTD) comprising a various range of autoimmune disorders is often accompanied by lung involvement, which can lead to life-threatening complications. The main types of CTDs that can present as interstitial lung disease (ILD) include rheumatoid arthritis, systemic sclerosis, Sjögren's syndrome, mixed connective tissue disease, idiopathic inflammatory myopathies, and systemic lupus erythematosus. CTD-ILD poses a significant challenge in clinical diagnosis and management due to its heterogeneous nature and variable prognosis.
View Article and Find Full Text PDFAnn Clin Transl Neurol
January 2025
Institut du Cerveau et de la Moelle Épinière, ICM, Sorbonne Université, INSERM, CNRS, Paris, France.
Objective: To describe peripheral neuropathy associated with familial Creutzfeldt-Jakob disease.
Methods: We report two unrelated patients with genetic Creutzfeldt-Jakob disease with demyelinating peripheral neuropathy as initial presentation, with a comprehensive clinical, electrophysiological and neuropathological description.
Results: Both patients exhibited gait disturbance and paresthesia.
Introduction: Pseudohypoparathyroidism 1A (PHP1A) is the best-known representative of inactivating PTH/PTHrP signaling disorders (iPPSD). The associated phenotype develops over time and often includes hormonal resistances, short stature and osteoma cutis. More complex and very early manifestations have also been reported.
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