Objective And Importance: Spinal neurenteric cysts are rare congenital lesions that may occur either alone or in the context of a complex malformative disorder including typical vertebral and cutaneous abnormalities. The interest of the case of a spinal neurenteric cyst described here lies in its rare intramedullary location and in the false mural nodule image on the preoperative magnetic resonance imaging scan. A further distinctive feature is the association with a cleft spinal cord.
Clinical Presentation: A 28-year-old woman presented with a 2-year history of progressive paraparesis and urinary retention. A magnetic resonance imaging study disclosed a T8-T9 intramedullary cystic lesion with a mural nodulelike formation on the posterior face.
Intervention: A posterior midline myelotomy exposed a cystic lesion that had translucent walls and contained a milky fluid. No mural nodules were found. Once the cyst had been emptied, a collateral finding was a cleft that was clearly observed in the anterior spinal cord. The histological diagnosis was a neurenteric cyst. Retrospectively, the nodular lesion found on the preoperative scan was attributed to mucinous clots deposited at the bottom of the cyst.
Conclusion: This case report demonstrates that neurenteric cysts can vary widely in radiological appearance, depending on the contents of the cyst. These differences become especially important if the associated stigmata are lacking and the preoperative diagnosis rests on magnetic resonance imaging scan appearance alone.
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http://dx.doi.org/10.1097/00006123-200301000-00033 | DOI Listing |
Int J Biol Sci
January 2025
Department of Basic & Translational Sciences, School of Dental Medicine, University of Pennsylvania, USA.
Inositol polyphosphate-5-phosphatase E (INPP5E) is a 5-phosphatase critically involved in diverse physiological processes, including embryonic development, neurological function, immune regulation, hemopoietic cell dynamics, and macrophage proliferation, differentiation, and phagocytosis. Mutations in cause Joubert and Meckel-Gruber syndromes in humans; these are characterized by brain malformations, microphthalmia, situs inversus, skeletal abnormalities, and polydactyly. Recent studies have demonstrated the key role of INPP5E in governing intracellular processes like endocytosis, exocytosis, vesicular trafficking, and membrane dynamics.
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January 2025
Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zubirán (INCMNSZ), Mexico City, Mexico.
Myelomeningocele (MMC) is the most severe and disabling form of spina bifida with chronic health multisystem complications and social and economic family and health systems burden. In the present study, we aimed to investigate the genetic risk estimate for MMC in a cohort of 203 Mexican nuclear families with discordant siblings for the defect. Utilizing a custom Illumina array, we analyzed 656 single nucleotide polymorphisms (SNPs) of 395 candidate genes to identify a polygenic risk profile for MMC.
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University Hospital of Patras, Patras, Greece.
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Department of Medical Laboratory Technology, College of Nursing and Health Sciences, Jazan University, Jazan, Saudi Arabia.
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View Article and Find Full Text PDFNutrients
December 2024
Department of Nutrition and Food Hygiene, School of Public Health, Qingdao University, 308 Ningxia Road, Qingdao 266071, China.
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