This case report describes an adult male presenting with ataxia. Dysplastic cerebellar gangliocytoma, the Lhermitte-Duclos disease, was diagnosed on neuroimaging. Diagnosis was confirmed on histopathology of surgically removed lesion. Patient underwent an uneventful recovery following operative treatment.
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Medicine (Baltimore)
December 2024
Department of Neurosurgery, The First Affiliated Hospital of Shihezi University, Shihezi, China.
Rationale: This study aims to present a case of cerebellar dysplastic ganglioneuroma, which is commonly referred to as Lhermitte-Duclos disease (LDD). Furthermore, the study aims to provide an extensive review of the essential aspects of LDD, thereby providing essential information for its accurate diagnosis and effective treatment.
Patient Concerns: A 54-year-old woman was admitted with symptoms of headache, facial numbness, and a visible cerebellar mass.
medRxiv
December 2024
Division of Endocrinology, Diabetes and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Importance: A subset of thyroid cancers develops in a setting of a known hereditary cancer-associated syndrome. Understanding the population prevalence of thyroid cancer-associated syndromes is important to guide germline genetic testing and clinical management.
Objective: To estimate the prevalence of the major thyroid cancer-associated syndromes in the United States using the All of Us Research Program (AoU) data.
J Hum Genet
December 2024
Laboratory for Cancer Genomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
A germline alteration in the PTEN gene causes a spectrum of disorders conceptualized as PTEN hamartoma tumor syndrome (PHTS), which show high risk of tumor development and a highly variable and complex phenotype. The diagnosis of PHTS is established in a proband by identification of a heterozygous germline PTEN pathogenic variant on molecular genetic testing. In this study, to understand more PTEN-associated clinical phenotype and PHTS in a Japanese population, we extracted 128 germline PTEN rare variants from 113,535 adult Japanese registered in Biobank Japan (BBJ), and categorized 29 pathogenic/likely pathogenic variants in 30 individuals (0.
View Article and Find Full Text PDFPathology
October 2024
Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australia.
J Am Podiatr Med Assoc
November 2024
*Department of Orthopaedics and Traumatology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Background: Proteus syndrome is a rare disorder characterized by overgrowth of limbs and organs and neurocutaneous findings.
Methods: We examined three Proteus syndrome cases with unilateral foot enlargement, megafoot. The patients had ambulatory and cosmetic difficulties.
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