Neurofibromatosis type 1 presenting with Horner's syndrome

نویسندگان
چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Neurofibromatosis type-1 manifesting with Tourette syndrome.

Figure 2: T2W axial section of the magnetic resonance imaging (MRI) of the brain of the patient showing hyperintense lesions in the left thalamus Sir, Tourette syndrome (TS) is an inherited neurological disorder with onset below 18 years of age characterized by motor and vocal tics, occurring in 0.6–3% of schoolchildren. The structural basis of TS is incompletely understood. The TS occurring in...

متن کامل

Neurofibromatosis type 1 with overlap Turner syndrome and Klinefelter syndrome.

Turner's syndrome is a sex chromosome disorder. Klinefelter's syndrome is one of the most severe genetic diseases. Neurofibromatosis is an autosomal dominant disorder characterized by cafe-au-lait spots and fibromatous tumors of the skin. In this article, we report the overlap of neurofibromatosis-1 with Turner and Klinefelter syndromes. Thus, these disorders might overlap within the same patie...

متن کامل

Neurofibromatosis type 2 patient presenting with medulloblastoma

BACKGROUND Neurofibromatosis type 2 (NF2) is an autosomal dominant syndrome with a frequency of 1 in 25,000 live births and a penetrance of almost 100% by the sixth decade of life. The main tumors occurring in NF2 patients are bilateral vestibular schwannomas, other peripheral, cranial and spinal nerve schwannomas, intracranial and intraspinal meningiomas, ependymomas, and gliomas. CASE DESCR...

متن کامل

Moyamoya syndrome and neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) is the most prevalent autosomal dominant genetic disorder among humans. NF1 vasculopathy is a significant but underrecognized complication of the disease, affecting both arterial and venous blood vessels of all sizes. Moyamoya syndrome is a cerebral vasculopathy that is only rarely observed in association with NF1, particularly in the pediatric age range. Herein, ...

متن کامل

Neurofibromatosis type 1 associated with dysplastic nevus syndrome.

Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder that primarily affects the development and growth of neural cell tissues. It causes tumors to grow on nerves and produces other abnormalities such as skin changes and bone deformities. Dysplastic nevus syndrome (DNS) represents multiple atypical nevi associated with polygenetic inheritance pattern and may rarely occur together wi...

متن کامل

ذخیره 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: Eye

سال: 2004

ISSN: 0950-222X,1476-5454

DOI: 10.1038/sj.eye.6701478