Neurocutaneous Manifestations of Genetic Mosaicism
نویسندگان
چکیده
منابع مشابه
Hereditary neurocutaneous angioma: a new genetic entity?
A family pedigree with a possible new genetic syndrome characterised by the presence of angiomas, systemic in nature, affecting particularly the skin and the central nervous system, is described. Angiomas of the CNS seem to have a marked tendency to bleed. The condition shows a clearly dominant mode of transmission, four subjects in three generations being affected. Differentiation from other c...
متن کاملMosaicism in von Hippel-Lindau disease with severe renal manifestations.
von Hippel-Lindau (VHL) disease is an inheritable multisystem tumor syndrome characterized by multiple benign and malignant tumors affecting multiple organs. VHL is the result of a germline mutation in the VHL tumor suppressor gene. Molecular genomic analysis routinely confirms the clinical diagnosis. However, the use of molecular diagnostic methods can often be insufficient for the detection o...
متن کاملMR of neurocutaneous melanosis.
PURPOSE To describe the MR findings of neurocutaneous melanosis in the brain and correlate these with the known pathology and proposed embryologic basis of this disorder. METHODS The brain (seven patients) and spine (three patients) MR scans of seven patients with neurocutaneous melanosis were retrospectively reviewed. In two patients, findings were confirmed at surgery. The pattern of centra...
متن کاملNeurocutaneous melanosis
Radiol Bras. 2016 Nov/Dez;49(6):406–413 412 http://dx.doi.org/10.1590/0100-3984.2015.0139 the lesions by the paramagnetic contrast agent. Examination of the cerebrospinal fluid showed that there was no infection with Cryptococcus or any other agents, indicating an effective response to the treatment. The combination of clinical and radiological worsening, despite an effective treatment response...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Pediatric Genetics
سال: 2015
ISSN: 2146-4596,2146-460X
DOI: 10.1055/s-0035-1564441