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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2012.05.026 | DOI Listing |
Neuro Endocrinol Lett
September 2025
Department of Radiology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, China.
Background: Pheochromocytomas and paragangliomas (PPGLs) are rare catecholamine-secreting neuroendocrine tumors originating from the embryonic neural crest. Approximately 30% of PPGLs are hereditary and are frequently associated with genetic syndromes, including neurofibromatosis type 1 (NF1). Composite PPGLs, which include components of both PPGLs and related tumors such as ganglioneuromas, are extremely rare in NF1 patients.
View Article and Find Full Text PDFSurg Case Rep
September 2025
Department of Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Kyoto, Japan.
Introduction: von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary disorder characterized by the development of tumor-like lesions in multiple organs. While central nervous system hemangioblastomas, pancreatic neuroendocrine tumors, and pancreatic cysts are commonly associated with VHL disease, there have been few reported cases of pancreatic hemangioblastoma in patients with VHL disease.
Case Presentation: A male patient in his 30s had been diagnosed with VHL disease and had been followed for cerebellar and spinal hemangioblastomas, and renal cell carcinoma, for which he had undergone several tumor resections, radiation therapy, and a ventriculoperitoneal shunt.
Radiol Case Rep
November 2025
Radiology Department Aga Khan University Hospital, Pakistan.
Fumarate hydratase (FH) deficient uterine leiomyomas account for only 0.4 % of all uterine leiomyomas. They have some unique histological characteristics and can be linked to renal cell carcinoma (HLRCC) syndrome and hereditary leiomyomatosis.
View Article and Find Full Text PDFNeurol Sci
September 2025
Department of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy.
Background: Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by abnormal vascular formations across multiple organ systems, including the brain. While arteriovenous malformations (AVMs) are well recognized in HHT, non-AVM cerebrovascular malformations remain underreported and poorly understood manifestations of the disease.
Methods: A systematic review was conducted using multiple databases, applying a two-step screening process to exclude studies with insufficient, irrelevant, or incomplete data.
J Int Med Res
September 2025
Department of Otolaryngology Head and Neck surgery, Hangzhou First People's Hospital, Westlake University, China.
Characterized by abnormalities of the blood vessel wall, hereditary hemorrhagic telangiectasia is an autosomal dominant disorder. Recurrent or spontaneous epistaxis is the most prevalent symptom of hereditary hemorrhagic telangiectasia, whose severity varies greatly, ranging from moderate self-limiting epistaxis to severe, life-threatening epistaxis, which often requires multiple treatments and is therefore a challenge for otorhinolaryngologists. This case report retrospectively analyzed the clinical data and family history of a patient who presented to the Department of Otorhinolaryngology, Hangzhou First People's Hospital, with recurrent epistaxis for 60 years.
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