نتایج جستجو برای: neurocutaneous

تعداد نتایج: 579  

Journal: :Journal of Clinical Neurology (Seoul, Korea) 2008
Byoung Seok Ye Yang-Je Cho Sang Hyun Jang Byung In Lee Kyoung Heo Hyun Ho Jung Jin Woo Chang Se Hoon Kim

BACKGROUND Neurocutaneous melanosis (NCM) is a rare neurocutaneous syndrome characterized by the presence of multiple congenital melanocytic nevi (CMN) and the proliferation of melanocytes in the central nervous system, usually involving the leptomeninges. Chronic partial epilepsy as a sole manifestation is rare in NCM. CASE REPORT A 32-year-old man suffering from chronic partial epilepsy pre...

Journal: :American journal of human genetics 2005
Eli Sprecher Akemi Ishida-Yamamoto Mordechai Mizrahi-Koren Debora Rapaport Dorit Goldsher Margarita Indelman Orit Topaz Ilana Chefetz Hanni Keren Timothy J O'brien Dani Bercovich Stavit Shalev Dan Geiger Reuven Bergman Mia Horowitz Hanna Mandel

Neurocutaneous syndromes represent a vast, largely heterogeneous group of disorders characterized by neurological and dermatological manifestations, reflecting the common embryonic origin of epidermal and neural tissues. In the present report, we describe a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK syndrome). Using homozy...

2015
Catarina Araújo Cristina Resende Francisco Pardal Celeste Brito

Introduction. The major medical concern with giant congenital melanocytic nevi CMN is high risk of developing cutaneous melanoma, leptomeningeal melanoma, and neurocutaneous melanocytosis. Case Report. A 30-year-old woman with a giant congenital melanocytic nevus covering nearly the entire right thoracodorsal region and multiple disseminated melanocytic nevi presented with neurological symptoms...

2016
Zahra Mirsepassi Fatemeh Mohammadian Elham Hakki Behrang Shadloo

Introduction: Sturge-Weber Syndrome (SWS) is a rare neurocutaneous syndrome that is manifested by overt neurological and covert psychiatric features. Although the syndrome is known to be neurocutaneous, multiple organs and systems are involved. Case Presentation: A 45-year-old male, with type I SWS was admitted to the psychiatric ward with manic-like symptoms. The case had a history of repeated...

2013
Feyza Nur Gorken Ikikarakayali Goksen Arzu Pinar Erdem Sinem Kuru Elif Sepet

Hypomelanosis of Ito (HI) is a rare neurocutaneous disorder most likely caused by chromosomal mosaicism. HI patients may suffer from numerous clinical manifestations, but the expression of the disease is highly variable. Ophthalmologic, musculoskeletal, neurologic, and dental anomalies may be associated with the syndrome. The dental abnormalities found in HI include talon cusps, a single maxill...

Journal: :Sudanese journal of paediatrics 2013
Mohamed Osman Swar Shaza Mohamed Mahgoub Rehab Omer Yassin Atika Mohamed Osman

Dandy-Walker Malformation (DWM) is a rare congenital malformation of the brain. It is characterized by cystic enlargement of the fourth ventricle which is communicating with an enlarged posterior fossa, cerebellar dysgenesis, high tentorial insertion and hydrocephalus. Neurocutaneous Melanosis (NCM) is a congenital neurocutaneous syndrome characterized by large or multiple melanocytic nevi and ...

2017
Moon Young Seo Su Jeong You Soung Hee Kim Woo Ho Cho Jong Hee Chae

Incontinentia pigmenti (IP) is an uncommon neurocutaneous syndrome. Its initial diagnosis is based primarily on characteristic papulovesicular skin lesions and early-onset neonatal seizures. In contrast to typical early neurologic manifestations, we encountered a normally developed 6-month-old female patient with hyperpigmented whorls on her body. Following respiratory syncytial virus infection...

Journal: :Archivos argentinos de pediatria 2011
Clarisa Rodofile Susana A Grees Lidia E Valle Gabriel Martino

Sturge-Weber syndrome (SSW) is a congenital neurocutaneous disorder, which presents a port wine vascular malformation that covers the territory of the trigeminal nerve, neurological manifestations (ipsilateral leptomeningeal involvement, seizures and mental retardation) and ophthalmic signs (choroidal vascular malformation, glaucoma). There is no evidence to indicate that this is an inherited d...

Journal: :Journal of the Royal Society of Medicine 1989

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