Rare uro-genital manifestations of von Recklinghausen disease: Scrotal, penile, and intrapelvic involvement with bladder and spermatic cord extension: A case report

Abstract

Neurofibromatosis is a group of genetic disorders comprising 2 main types: type 1 neurofibromatosis (NF-1) and type 2 neurofibromatosis. The most common form is NF-1, also known as Von Recklinghausen disease. The clinical manifestations and presentation of this condition are variable. In this report, we present a unique case of a 10-year-old child with NF-1 who presented with scrotal swelling associated with progressive penile enlargement. After a thorough evaluation, the diagnosis of a plexiform neurofibroma was made. MRI evaluation revealed an intrapelvic extension of the tumor affecting the bladder and spermatic cords. This rare clinical presentation makes this case particularly interesting and highlights the diverse manifestations of Von Recklinghausen disease.