Background: Sporadic spinal hamartomas in adults are extremely rare tumor-like lesions, without defined guidelines of treatment. The aim of this study is to investigate the peculiar features of this pathologic entity to support a more accurate diagnosis and management.
Methods: A comprehensive and detailed literature review of sporadic spinal hamartomas in adults, including a personal case, was performed. Demographic (sex and age), clinical (presenting symptoms), radiologic and pathologic (size, localization, dural and spinal cord relationship of lesion) features, as well as treatment (time to surgery, extent of resection, perioperative and postoperative complications) and outcome (clinical) data were analyzed.
Results: Seven studies, including 7 patients, were eligible for the review. A personal case was also added. Sporadic adult spinal hamartomas equally affect males and females, in a range of age from 18 to 75 years; sensory radicular deficits were detected in all patients at clinical onset; thoracic segment (4/8) of the spine and intradural compartment (6/8) were most involved. All patients underwent surgery and just one experimented postoperative complication; gross total resection was achieved in only 3 patients, mainly in an extradural localization; clinical improvement at last follow-up was reported in all but 1 patient.
Conclusions: Spinal hamartomas in adults may sometimes account for progressive worsening of neurologic symptoms and lead to potentially irreversible neurologic deficit; therefore, prompt and adequate diagnosis and treatment are mandatory. Surgical resection represents the only curative treatment and is indicated for symptomatic lesions to achieve neurologic symptoms restoration or arrest/prevent their progressive deterioration.
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http://dx.doi.org/10.1016/j.wneu.2023.10.033 | DOI Listing |
Dis Model Mech
December 2024
Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA 91125, USA.
Neurofibromatosis type 2 (NF-2) is a dominantly inherited genetic disorder that results from variants in the tumor suppressor gene, neurofibromin 2 (NF2). Here, we report the generation of a conditional zebrafish model of neurofibromatosis established by inducible genetic knockout of nf2a/b, the zebrafish homologs of human NF2. Analysis of nf2a and nf2b expression revealed ubiquitous expression of nf2b in the early embryo, with overlapping expression in the neural crest and its derivatives and in the cranial mesenchyme.
View Article and Find Full Text PDFNeurology
October 2024
From the Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, OH.
Background And Objectives: PTEN hamartoma tumor syndrome (PHTS) is a well-recognized hereditary tumor syndrome and is now also recognized as a common cause of monogenic autism spectrum disorder. There is a vast spectrum of phenotypic variability across individuals with PHTS, and in addition to neurodevelopmental challenges, patients with PHTS may experience a wide variety of neurologic challenges, many of which have only recently been described. Thus, this systematic review aimed to summarize the breadth of the current knowledge of neurologic conditions in individuals with PHTS.
View Article and Find Full Text PDFIntern Med
July 2024
Department of Neurology, Juntendo University Faculty of Medicine, Japan.
Cowden syndrome (CS) is an autosomal dominant syndrome characterized by the development of hamartomas and an increased cancer risk. Most CS patients harbor mutations in the phosphatase and tensin homolog (PTEN) gene. We herein report a 70-year-old patient with CS who presented with lower extremity weakness caused by multiple thoracic dural arteriovenous fistulas.
View Article and Find Full Text PDFJ Surg Case Rep
July 2024
Department of Neurosurgery, Khalifa Gul Nawaz Hospital, Medical Teaching Institution, Bannu, Khyber Pakhtunkhwa 28100, Pakistan.
Ectopic breasts represent uncommon medical anomalies characterized by the presence of additional breasts situated outside the typical milk line. In this case report, we present a case encompassing dorsal ectopic breasts accompanied by three nipples. A 14-year-old teen girl presented with a significant dorsal mass, exhibiting no clinical manifestations except mild pain and a sense of heaviness.
View Article and Find Full Text PDFbioRxiv
April 2024
Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA, USA.
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