Constellation of Imaging Findings in Neurofibromatosis Type 2- A Case Report
نویسندگان
چکیده
Neurofibromatosis type 2 (NF2), earlier known as bilateral acoustic neurofibromatosis, is an autosomal dominant disorder considered by the development of multiple tumours. It caused mutations in NF2 gene present at long arm chromosome number 22 (22q12.2) which encodes for merlin protein (tumour suppressor gene), found schwann cells involved interaction cell with extracellular matrix after binding actin or a transmembrane CD44 receptor. commonly acronym MISME syndrome that stands Multiple Inherited Schwannomas (MIS), Meningiomas (M) and Ependymomas (E). The diagnosis usually made help Magnetic Resonance Imaging (MRI) second third decade life, peak 20s. Along all these, there should be first degree relative suffering from NF2. authors presented case 18-year-old boy who was diagnosed MRI played major role diagnosis. patient managed symptomatic treatment on regular follow-up.
منابع مشابه
Magnetic resonance findings of neurofibromatosis type 2: a case report
Neurofibromatosis type 2 is an inherited autosomal dominant syndrome, characterized by multiple neoplasms of the central and peripheral nervous system associated with ocular abnormalities. The most common tumor associated with the disease is the vestibulocochlear schwannoma (VIII cranial nerve), and as many as 10% of patients with this tumor have neurofibromatosis type 2. In this report we aim ...
متن کاملA case report of neurofibromatosis
Introduction:Neurofibromatosis is a genetic disease characterized by multifocal benign tumors of peripheral nerves, called neurofibromas, and pigmented spots on the skin which inherited as autosomal-dominant. The most common form of the disease is neurofibromatosis type 1, also known as von Recklinghausen's disease of the skin. When an individual has small number of lesions in a limited region ...
متن کاملA neurofibromatosis type 2 case with vestibular, trigeminal and facial schwannomas: Magnetic resonance imaging findings
Neurofibromatosis type 2 is characterized by the development of multiple nervous system tumors. This disorder is also called multiple inherited schwannomas, meningiomas, and ependymomas syndrome. In this report, we discuss the magnetic resonance imaging findings in a patient with Neurofibromatosis type 2 who had right and left vestibular and trigeminal schwannomas, unilateral facial schwannoma,...
متن کاملSpontaneous Hemothorax in a Patient with Neurofibromatosis Type 1: A Case Report
Background: Neurofibromatosis type1 (NF-1) is a hereditary autosomal dominant disease that is accompanied by complications, such as benign and malignant tumors and vascular involvement, including pulmonary hypertension, artery stenosis, and pulmonary artery aneurysm. Spontaneous hemothorax is a rare and lethal complication of NF-1 due to vasculopathy as stenosis or aneurysmal modifications of l...
متن کاملOcular pathologic findings of neurofibromatosis type 2.
OBJECTIVE To gain insight into the pathogenesis of neurofibromatosis type 2 (NF2) by investigating the ocular manifestations of this disease. METHODS Using standard histologic techniques, immunohistochemistry, and electron microscopy, we described the ocular pathologic findings of a 34-year-old woman who died from complications of NF2. RESULTS We identified 3 types of NF2-associated lesions...
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: International journal of anatomy radiology and surgery
سال: 2022
ISSN: ['2277-8543', '2455-6874']
DOI: https://doi.org/10.7860/ijars/2022/53436.2836