Spotlight on Sturge-Weber Syndrome: Unraveling the Enigma of a Rare Neurocutaneous Disorder in Infants-An Overview
نویسندگان
چکیده
This article aims to provide a concise overview of the existing literature on Sturge-Weber syndrome in infants. comprehensive review presents key information regarding prevalence, clinical characteristics, diagnostic methods, and available treatments based recent global research. is rare congenital neurocutaneous disorder, affecting approximately 1 20,000 50,000 new-born, caused by somatic mutation GNAQ gene. Its defining features include leptomeningeal angiomatosis, glaucoma, facial birthmark known as port-wine stain. Seizures are most common neurological symptom, typically appearing within first few months life. Glaucoma can either manifest at birth or emerge during later stages The severity symptoms associated with vary. Common anticonvulsants, laser therapy for stain, medication surgery glaucoma. also discusses potential causes, contributing factors, possible solutions syndrome.
منابع مشابه
Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome.
Epilepsy is a major morbidity in Sturge Weber syndrome, a segmental vascular neurocutaneous disorder classically associated with facial angiomas, glaucoma, and leptomeningeal capillary-venous type vascular malformations. The extent of the latter correlates with neurological outcome. Post-zygotic mosaicism for the activating mutation p.R183Q of the GNAQ gene has been identified as the major caus...
متن کاملThe Sturge-Weber Syndrome
The association of vascular nxvi of the face, predominantly unilateral in distribution, with homolateral changes in the cerebral cortex, has long been of interest to clinicians. The first case4 of this disorder was presented by W. Allen Sturge to the Clinical Society of London in 1879. Weber5 called attention to the characteristic roentgenological features of this disease in 1922, and in 1934. ...
متن کاملAngiodysplastic Sturge Weber syndrome.
Accepted 19 November 2017 DesCripTion A 3-year-old boy presented with global developmental delay, abnormal craniofacial growth and left focal seizures since infancy. He was the first child of a non-consanguineous couple with unremarkable perinatal period. Family history was non-contributory. On examination, he had macrocephaly (head circumference 55 cm, >3 z-score), extensive port-wine stain di...
متن کاملBilateral Sturge Weber syndrome- a rare case report.
BACKGROUND Sturge-Weber syndrome is a rare congenital neuro- oculo- cutaneous disorder. OBJECTIVE To report a very rare unusual case of bilateral manifestation of Sturge Weber syndrome. CASE We report an unusual case of a 17-year-old female with advanced stage of bilateral glaucoma associated with facial nevus extending to the other half of the face as well and bilateral intracranial calcif...
متن کاملSturge-Weber Syndrome
Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome, characterized by the association of facial port-wine hemangiomas in the trigeminal nerve distribution area, with vascular malformation(s) of the brain (leptomeningeal angioma) with or without glaucoma. Herein, we reported Sturge-Weber syndrome in a 50-year-old man, who presented port-wine hemangiomas and epilepsy. In this case, the patie...
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ژورنال
عنوان ژورنال: Journal of pharmaceutical research international
سال: 2023
ISSN: ['2456-9119']
DOI: https://doi.org/10.9734/jpri/2023/v35i167384