Results 31 to 40 of about 16,470 (273)

A Neonate with CLOVES Syndrome

Case Reports in Pediatrics, 2014
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome is a recently delineated disorder that comprises vascular malformations (typically truncal), dysregulated adipose tissue, scoliosis, enlarged bony structures ...
Dilek Sarici, Mustafa Ali Akin, Selim Kurtoglu, Filiz Tubas, Serdar Umit Sarici   +4 more
doaj   +1 more source

Cerebral Proliferative Angiopathy: Case Report

Brazilian Neurosurgery, 2018
Proliferative angiopathy (PA) is a rare cerebral vascular disease in which anomalous vessels continually recruit additional feeder arteries, amid a functional brain parenchyma.
Luana Antunes Maranha Gatto, Rodrigo Tavares Brisson, Zeferino Demartini Jr, Gelson Koppe, Carlos Rocha Jr   +4 more
doaj   +1 more source

causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome

, 2022
Recessive mutations in the genes encoding the four subunits of the tRNA splicing endonuclease complex (TSEN54, TSEN34, TSEN15, and TSEN2) cause various forms of pontocerebellar hypoplasia, a disorder characterized by hypoplasia of the cerebellum and the ...
Fatih Ozaltin, Bartley J. Brown, TOPALOĞLU, REZAN, CANPOLAT, Nur, Beyhan Tuysuz, Nur Canpolat, Nazli Sila Kara, Tugba Tastemel Ozturk, Qiong Ding, TAŞTEMEL ÖZTÜRK, TUĞBA, Dingxiao Liu, Massimo Attanasio, SEZERMAN, Osman Uğur, SAYGILI, Seha Kamil, Kader Karli Oguz, Kara, Nazli Sila, Brown, Bartley J., ÇALIŞKAN, SALİM, Attanasio, Massimo, Terry A. Braun, Yasemin Ozluk, Westfall, Trudi A., Ozluk, Yasemin, TÜYSÜZ, Beyhan, Liu, Dingxiao, Emine Atayar, ÖZALTIN, FATİH, Oguz, Kader Karli, Diane Slusarski, Salim Caliskan, Atayar, Emine, Rezan Topaloglu, Ding, Qiong, Osman Ugur Sezerman, Trudi A. Westfall, Lale Sever, Seha Saygili, Sever, Lale, Braun, Terry A., Slusarski, Diane   +39 more
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Blue rubber bleb nevus syndrome associated with adult-onset cutaneous lesions and spontaneous intracranial hemorrhage: A case report and literature review

Dermatologica Sinica, 2018
Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder. Since 1860, only 200 case reports of BRBNS have been reported. BRBNS is characterized by numerous malformations of the vascular system that significantly involve the skin, gastrointestinal tract,
Chia-Hua Lin, Bai-Yao Wu, Chih-Tsung Hung, Hong-Wei Gao   +3 more
doaj   +1 more source

Cavernous Malformations of the Central Nervous System: An International Consensus Statement [PDF]

, 2023
Introduction: Cavernous malformations (CM) of the central nervous system constitute rare vascular lesions. They are usually asymptomatic, which has allowed their management to become quite debatable.
Brotis, Alexandros G., Pavesi, Giacomo, Alleyne, Cargill H., Andreou, Alexandros, Vajkoczy, Peter, Kitchen, Neil, Santos, Alejandro N., Spetxler, Robert F., Panagiotopoulos, Vasilios, Papasilekas, Themistoklis, Tjoumakaris, Stavropoula, Tasiou, Anastasia, Kalogeras, Adamantios, Foroglou, Nikolaos, Fountas, Kostas N., Karlsson, Bengt, Tolias, Christos M., Demetriades, Andreas K., Friedlander, Robert M., Meling, Torstein R., Tzerefos, Christos, Mitsos, Aristotelis, Rasulic, Lukas, Sure, Ulrich   +23 more
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Dural based cavernoma of cerebral convexity – A rare case report

Interdisciplinary Neurosurgery, 2023
Cerebral cavernous malformations occur in about 0.4–0.5 % of the population. They account for about 5–13 % of all vascular malformations of the central nervous system, commonly occurring in the cerebral parenchyma.
H. Mohamed Naleer, V. Vivek, Rav Tej Bathala, Venkata Shashank Davuluri, Jishnu, K. Ganesh, Lawrence D. Cruze   +6 more
doaj   +1 more source

Imaging Cavernous Malformations [PDF]

, 2002
This unit describes a for evaluating cavernous malformations (CMs). CMs represent ˜10% to 15% of vascular malformations. They consist of enlarged sinusoidal vascular spaces that have thin walls devoid of smooth muscle and normal endothelium.
Fisher, Laurie, Suresh Mukherji, Laurie Fisher, F. Allan Midyett, Midyett, F. Allan, Mukherji, Suresh   +5 more
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An aggressive dural arteriovenous fistula manifested by unilateral subcortical calcification and cerebral edema: A case report

Radiology Case Reports, 2023
Unilateral subcortical calcifications are unique radiographic findings indicating specific focal pathologies. When the lesion is accompanied by edema, cerebral neoplasm usually leads to a differential diagnosis.
Yuya Kagawa, MD, Taichiro Imahori, MD, PhD, Reiichi Okino, MD, Tomoaki Harada, MD, PhD, Daisuke Yamamoto, MD, PhD, Shigeru Miyake, MD, PhD, Takashi Sasayama, MD, PhD   +6 more
doaj   +1 more source

A missed case of hereditary hemorrhagic telangiectasia: A case report

SAGE Open Medical Case Reports, 2022
Hereditary hemorrhagic telangiectasia is a rare autosomal dominant disorder characterized by abnormal blood vessel formation. When an abnormal vascular architecture affects the lungs and central nervous system, serious complications can occur.
Jia Zhang, Gaoyun Pan, Yingying Zou, Xiaoshu Chen, Jingye Pan, Yi Wang, Shichao Quan, He Zou   +7 more
doaj   +1 more source

Blue Rubber Bleb Nevus Syndrome With Multiple Cavernoma-Like Lesions on MRI: A Familial Case Report and Literature Review

Frontiers in Neurology, 2020
Blue rubber bleb nevus syndrome (BRBNS), also called Bean's syndrome, is a rare disease associated with multiple venous malformations in the skin and gastrointestinal (GI) tract.
García Anwár, Paredes-Aragón Elma, Jorge-de Saráchaga Adib, Meyer-Nava Ilse, Gutiérrez-Romero Alonso, Salinas Lara Ciltlaltepelt, Novelo Soto Alma, Vega Memije Maria Elisa, Arauz Antonio   +8 more
doaj   +1 more source