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Actas Dermo-sifiliograficas Jun 2017Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in GNAQ; it affects 1 in every 20,000 to 50,000 newborns.... (Review)
Review
Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in GNAQ; it affects 1 in every 20,000 to 50,000 newborns. It is characterized by a facial Port-wine stain, leptomeningeal angiomatosis, and glaucoma. Seizures are the most common neurological manifestation and typically present in the first months of life. Glaucoma may be present at birth or develop later. Neuroimaging studies show leptomeningeal angiomatosis, supporting diagnosis. Standard treatment for Sturge-Weber syndrome includes laser treatment for the Port-wine stain, anticonvulsants, and medical or surgical treatment for the glaucoma. Prognosis depends on the extent of leptomeningeal involvement and the severity of the glaucoma.
Topics: Anticonvulsants; Brain Damage, Chronic; Early Diagnosis; GTP-Binding Protein alpha Subunits, Gq-G11; Glaucoma; Humans; Lasers, Dye; Meninges; Neuroimaging; Port-Wine Stain; Seizures; Sturge-Weber Syndrome; Veins
PubMed: 28126187
DOI: 10.1016/j.ad.2016.09.022 -
Stroke Dec 2022Sturge-Weber syndrome (SWS) is a rare, noninherited neurovascular disorder characterized by abnormal vasculature in the brain, skin, and eye. Patients with SWS... (Review)
Review
Sturge-Weber syndrome (SWS) is a rare, noninherited neurovascular disorder characterized by abnormal vasculature in the brain, skin, and eye. Patients with SWS characteristically have facial capillary malformation, also known as port-wine birthmark, a leptomeningeal vascular malformation seen on contrast-enhanced magnetic resonance imaging images, abnormal blood vessels in the eye, and glaucoma. Patients with SWS have impaired perfusion to the brain and are at high risk of venous stroke and stroke-like episodes, seizures, and both motor and cognitive difficulties. While the activating R183Q somatic mutation is the most common somatic mutation underlying SWS, recent research also implicates that GNA11 and somatic mutations are related to SWS. Recent retrospective studies suggest the use of low-dose aspirin and vitamin D in treatment for SWS and prospective drug trials have supported the usefulness of cannabidiol and Sirolimus. Presymptomatic treatment with low-dose aspirin and antiepileptic drugs shows promising results in delaying seizure onset in some patients. This review focuses on the latest progress in the field of research for Sturge-Weber syndrome and highlights directions for future research.
Topics: Humans; Sturge-Weber Syndrome; Seizures; Brain; Stroke; Aspirin
PubMed: 36263782
DOI: 10.1161/STROKEAHA.122.038585 -
Handbook of Clinical Neurology 2015von Hippel-Lindau (VHL) disease is an inheritable condition with an incidence of 1 in 36000 live births. Individuals with VHL develop benign and malignant tumors... (Review)
Review
von Hippel-Lindau (VHL) disease is an inheritable condition with an incidence of 1 in 36000 live births. Individuals with VHL develop benign and malignant tumors including retinal and central nervous system hemangioblastomas, clear cell renal cell carcinomas (RCC), pheochromocytomas, pancreatic neuroendocrine tumors and endolymphatic sac tumors (ELSTs). VHL is caused by germline loss of function of the VHL gene on one allele at chromosome 3p25-26. A somatic "second hit" event leads to the loss of the other allele and tumor formation. Loss of VHL function in cells leads to increased expression and stabilization of hypoxia inducible factor (HIF). VHL protein/HIF pathway has been implicated in tumorigenesis for hemangioblastomas, RCC and other VHL tumors. Clinical examination, imaging, and genetic testing for VHL mutations confirm VHL disease. Management of VHL disease largely consists of surgical resection of symptomatic tumors (hemangioblastomas), tumors prone to metastasize (RCC larger than 3cm), or tumors causing hormonal symptoms (pheochromocytomas). Despite advances in early diagnosis and management of VHL disease, life expectancy for VHL patients remains low at 40-52 years. Secondary effects from VHL manifestations are mitigated by routine surveillance and early detection. In this chapter, we summarize the current state of knowledge in VHL disease.
Topics: Hemangioblastoma; Humans; von Hippel-Lindau Disease
PubMed: 26564077
DOI: 10.1016/B978-0-444-62702-5.00010-X -
Hormone Research in Paediatrics 2015Von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome characterized by the development of multiple vascular tumours. The syndrome is caused by inactivation of... (Review)
Review
Von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome characterized by the development of multiple vascular tumours. The syndrome is caused by inactivation of the VHL protein (pVHL) and increased production of VEGF, PDGF, and TGF-α. The course of VHL syndrome is associated with the development of multiple vascular tumours. Most frequently, these include retinal and central nervous system haemangioblastomas, clear cell renal cell carcinoma, phaeochromocytomas, pancreatic islet tumours, endolymphatic sac tumours, and additionally, renal and pancreatic cystadenomas and epididymal cystadenomas in men. VHL syndrome is a highly complex disease; hence, the diagnosis is often difficult. The diagnosis of any of the characteristic tumours, particularly in children, is an implicit indication for the necessity of diagnosis and genetic tests in the patient and family members and for intensive supervision of carriers of the mutated gene, thereby improving early diagnosis and successful treatment of the malignancies.
Topics: Child; Genetic Testing; Humans; Vascular Neoplasms; von Hippel-Lindau Disease
PubMed: 26279462
DOI: 10.1159/000431323 -
Internal Medicine (Tokyo, Japan) May 2023
Topics: Humans; Klippel-Trenaunay-Weber Syndrome
PubMed: 36171122
DOI: 10.2169/internalmedicine.0251-22 -
Ugeskrift For Laeger Aug 2014
Topics: Angiomatosis; Child; Humans; Male; Skin Diseases, Vascular
PubMed: 25292473
DOI: No ID Found -
Revue Scientifique Et Technique... Sep 1996Cat-scratch disease (CSD) was first described by Debré in 1950, yet the causative bacterial agent of CSD remained obscure until 1992, when Bartonella (formerly... (Review)
Review
Cat-scratch disease (CSD) was first described by Debré in 1950, yet the causative bacterial agent of CSD remained obscure until 1992, when Bartonella (formerly Rochalimaea) henselae was implicated in CSD by serological and microbiological studies. B. henselae had initially been linked to bacillary angiomatosis (BA), a vascular proliferative disease most commonly associated with long-standing human immunodeficiency virus (HIV) infection or other significant immunosuppression. B. henselae has also been associated with bacillary peliosis, relapsing bacteraemia and endocarditis in humans. Cats are healthy carriers of B. henselae, and can be bacteraemic for months or years. It has recently been demonstrated that B. henselae can be transmitted from cat to cat by the cat flea, but not by direct contact between animals. The author discusses the present state of knowledge on the aetiology, clinical features and epidemiological characteristics of cat-scratch disease and bacillary angiomatosis.
Topics: Angiomatosis, Bacillary; Animals; Bacteremia; Bartonella henselae; Cat Diseases; Cat-Scratch Disease; Cats; Disease Reservoirs; Humans; Prevalence; United States
PubMed: 9025151
DOI: 10.20506/rst.15.3.975 -
Revista Medica de Chile Jul 2012Bacillary angiomatosis is an unusual infectious disease, with angioproliferative lesions, typical of immunocompromised patients. It is caused by Bartonella quintana and...
Bacillary angiomatosis is an unusual infectious disease, with angioproliferative lesions, typical of immunocompromised patients. It is caused by Bartonella quintana and Bartonella henselae, two infectious agents of the genus Bartonella, which trigger variable clinical manifestations, including cutaneous vascular and purpuric lesions, and regional lymphadenopathy, and even a systemic disease with visceral involvement. We report a 38-year-old HIV positive male presenting with a history of six months of cutaneous growing purple angiomatous lesions, located also in nasal fossae, rhi-nopharynx and larynx. The skin biopsy was compatible with bacillary angiomatosis. Polymerase chain reaction of a tissue sample showed homology with B. quintana strain Toulouse. The patient was treated with azithromycin and ciprofloxacin with a favorable evolution.
Topics: AIDS-Related Opportunistic Infections; Adult; Angiomatosis, Bacillary; Anti-Bacterial Agents; Azithromycin; Bartonella quintana; Biopsy; Ciprofloxacin; Humans; Male
PubMed: 23282705
DOI: 10.4067/S0034-98872012000700013 -
The American Journal of Tropical... Sep 2014
Topics: AIDS-Related Opportunistic Infections; Adult; Angiomatosis, Bacillary; Anti-Bacterial Agents; Bartonella; Biopsy; CD4 Lymphocyte Count; DNA, Ribosomal Spacer; Diagnosis, Differential; Doxycycline; Face; Humans; Male; Skin; Treatment Outcome
PubMed: 25187668
DOI: 10.4269/ajtmh.13-0561 -
British Medical Journal Jun 1956
Topics: Angiomatosis; Brain; Child; Hemiplegia; Hemispherectomy; Humans; Infant; Psychosurgery; Split-Brain Procedure
PubMed: 13316210
DOI: No ID Found