Results 11 to 20 of about 4,023 (171)

A Case of Previously Undiagnosed Sturge-Weber Syndrome in an African American Patient due to a Missed Port-Wine Stain. [PDF]

Case Rep Neurol Med
Sturge–Weber syndrome (SWS) is a rare, congenital neurocutaneous disorder characterized by the triad of facial capillary malformations, ocular abnormalities, and leptomeningeal angiomatosis which can lead to neurological manifestations such as seizures, intellectual disability, and stroke‐like episodes.
Blackbourn L, Srinivas J, Salem M, Janapala U.   +3 more
europepmc   +2 more sources

Perioperative Challenges in a Patient With Sturge-Weber and Obesity Hypoventilation Syndromes. [PDF]

Case Rep Med
Background The rare concurrence of Sturge–Weber syndrome (SWS) and obesity hypoventilation syndrome (OHS) presents significant anesthetic challenges, with complexity in airway management and perioperative respiratory care. Case Presentation A 55‐year‐old man with SWS and OHS underwent elective dental extraction.
Mincolelli G, Izzi A, Leoni MLG, Marchello V, Carlo MGD, Cascella M, Recchia A, Corso RM.   +7 more
europepmc   +2 more sources

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Hemomediastinum and bilateral hemothorax with extensive angiomatosis of anterior mediastinum

Monaldi Archives for Chest Disease, 2016
Angiomatosis is a rare, benign but clinically extensive and serious vascular lesion of soft tissue. Hereby, we report a case of diffuse angiomatosis of mediastinum, presenting with hemomediastinum and bilateral massive hemothorax in a 19-year old boy. On
Sh. Karimi, F. Mohammadi, S. Pejhan, M. Bakhshayeshkaram, P. Akhavan-Azari, M. Bahadori   +5 more
doaj   +1 more source

Impact of Periodontal Therapy in Patients with Sturge-Weber Syndrome [PDF]

Journal of Clinical and Diagnostic Research, 2019
A 19 years old female patient, presented with the chief complaint of pain and swelling on her face. At physical examination, facial asymmetry and “port wine” spots on the left face were seen.
Iasminy Soares De Oliveira, Teresa Cristina Esteves, André Caroli Rocha, Maria das Graças Afonso Miranda Chaves, Gisele Maria Campos Fabri   +4 more
doaj   +1 more source

Plausible predicament in emergency endodontic rehabilitation of a child with Sturge-Weber syndrome: A case report

Contemporary Pediatric Dentistry, 2022
Sturge–Weber Syndrome (SWS) is a neuro-oculo-cutaneous vascular disorder that includes leptomeningeal hemangioma and port wine stains, usually ipsilaterally, with ocular manifestations and extended lesions over the oral cavity.
Amit Khatri, Namita Kalra, Rishi Tyagi, Khadeeja Kulood M, Mayank Sharma, Drishti Kaushal   +5 more
doaj   +1 more source

Diffuse Dermal Angiomatosis Manifestation of Underlying Severe Peripheral Vascular Disease

European Journal of Case Reports in Internal Medicine, 2020
Diffuse dermal angiomatosis is a benign vascular disorder suspected in patients with cardiovascular risk factors. We report the case of a 62-year-old woman with a non-healing hip wound but no significant cardiovascular risk factors, who was found to have
Abu Baker Sheikh, Nismat Javed, Karl Stoltze   +2 more
doaj   +1 more source

Síndrome de Sturge-Weber: revisión de la literatura

Gaceta Médica Boliviana, 2020
El síndrome de Sturge-Weber es un trastorno neurocutáneo, congénito, esporádico e infrecuente que afecta aproximadamente a 1 de cada 20 000 a 50 0000 nacidos vivos y que se relaciona con una mutación genética activadora somática en GNAQ.
Gabriela Antezana Llaveta, Heydi Yvana Sanz-Arrazola   +1 more
doaj   +1 more source

Disseminated Bartonellosis Masquerading as Autoimmune Glomerulonephritis: A Case Report. [PDF]

Case Rep Nephrol
Background Although Bartonella henselae is primarily known for causing self‐limiting cat scratch disease in immunocompetent individuals, it can also lead to severe disseminated infections, particularly in immunocompromised patients. Case Presentation We present a rare case of disseminated B.
Debyser T, Falter M, Vanhoutte T, Koshy P, Depypere M, De Vusser K, Henckaerts L.   +6 more
europepmc   +2 more sources

Gorham Stout syndrome in a pediatric patient. A case report

Medisur, 2023
Within the idiopathic osteolysis syndromes classification, Gorham-Stout disease ranks fourth. It is a clinical picture characterized by the progressive destruction of bone tissue and vascular proliferation, with angiomatosis and bone lymphangiomatosis ...
Ariel Moya Machado, Leidelén Esquivel Sosa, Yisel González Ríos   +2 more
doaj