A 32-year-old male patient was operated for tethered cord associated with spinal lipoma. Further investigations showed the presence of basilar invagination, Chiari formation, and extensive syringomyelia. His neurological symptoms continued to worsen after the surgery, and over a 3-year period, he developed spastic quadriparesis and urinary retention and constipation. The patient was now treated by atlantoaxial fixation. Following the surgery, the patient improved in function in all four limbs and both the urinary and stool control. The presence of symptomatic Chiari formation in association with the tethered cord is a relatively rare clinical event. Surgical treatment of Chiari formation can result in a gratifying clinical recovery.
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http://dx.doi.org/10.4103/jcvjs.JCVJS_114_19 | DOI Listing |
Cureus
December 2024
Cardiovascular Surgery, Kawasaki Municipal Hospital, Kawasaki, JPN.
A 40-year-old male visited our clinic for cardiac evaluation. He had palpitations for several years, but the reason was unknown. Transthoracic echocardiography revealed a hyperechoic ribbon-shaped structure that moved vigorously in the right atrium.
View Article and Find Full Text PDFEur Heart J Case Rep
January 2025
Cardiology Department, University Virgen de las Nieves Hospital, Avenida de las Fuerzas Armadas 2, Granada 18014, Spain.
Pak J Med Sci
December 2024
Dr Mahwish Shoaib, FCPS Radiology. Assistant Professor, Department of Diagnostic Radiology, Punjab Institute of Neurosciences, Lahore, Pakistan.
Background And Objective: Chiari I Malformation-associated syringomyelia (CM) and idiopathic syringomyelia (IS) are often confused together. They require different diagnostic approach and treatment modalities; it is important to distinguish between the two. We aimed to evaluate the radiological and morphologic characteristics of CM and IS in adult and pediatric patients in Pakistani population.
View Article and Find Full Text PDFEur J Hum Genet
December 2024
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Myogenic fusion, primarily regulated by the Myomaker and Myomixer proteins, is essential for skeletal muscle development, yet its mechanisms remain poorly understood. This study presents the clinical and molecular details of the third and fourth reported patients with biallelic variants in MYMX, the gene that encodes Myomixer. We identified a homozygous truncating variant [c.
View Article and Find Full Text PDFNeurol India
November 2024
Department of Neurosurgery, K.E.M. Hospital and Seth G.S. Medical College, Parel, Mumbai, Maharashtra, India.
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