DR. KUNDAN KUMAR SINGH

DR. SANJEEV KUMAR, DR. SHANYA KUMARI GUPTA, DR. RENUKA

Abstract

ABSTRACT: –

Here is a case report of patient with neurofibromatosis 1(NF1). A 40-year-old male patient recently diagnosed with NF1 presented with complaint of blurring of vision, ptosis since 1 month.

Neurofibromatosis type 1 is also known as von Recklinghausen disease or peripheral neurofibromatosis is the most common type with a prevalence of 1 in 3000-5000 persons. 50% cases are AD and 50% are sporadic. It primarily affects the cell growth of neural tissue. In individual with NF1 neurofibromin gene is abnormal and loss of tumor suppressor function leads to proliferation of neural tumor.