CASE 500 Published on 05.04.2001

Neurofibromatosis type 1 associated with a neurofibrosarcoma of the urinary bladder

Section

Genital (female) imaging

Case Type

Clinical Cases

Authors

A. Gouliamos, E. Panourgias, A. Koureas, A. Chatziioanou, L. Vlachos

Patient

17 years, female

Categories
No Area of Interest ; Imaging Technique CT, CT
Clinical History
A 17 year old female who presented vaginal bleeding and a feeling of abdominal "fullness" was admitted to the hospital. On US and CT scans a large poorly defined, heterogeneous mass appeared to occupy the lower part of the abdomen. CT scans also demonstrated smooth paraspinal masses. The chest X-rays revealed large round opacitiesin the lung parenchyma.
Imaging Findings
A 17 year old female who presented with vaginal bleeding and a feeling of "abdominal fullness" was admitted to the hospital. She had a large neck mass on the left side that had been present since she was 12 years old. No similar lesion was noted on her parents or her siblings. Sonograms of the lower abdomen were obtained revealing a poorly defined mass of heterogeneous echogenicity, 12 cm in diameter. On CT scans obtained before and after intravenous injection of contrast medium the lesion appeared to occupy the lower part of the abdomen with pelvic sidewall involvement, particularly on the right, and heterogeneous contrast enhancement.The mass lesion was approximately 13x12x15 cm in size.CT also demonstrated the presence of smooth paraspinal masses. No remarkable findings of the liver, spleen, kidneys, adrenals, pancreas or lymph nodes were noted. The chest X-rays revealed bilateral round opacities in the lung parenchyma that proved to be multiple metastases.
Discussion
Neurofibromatosis type 1 or else known as von Recklinghausen's disease is one of the commonest autosomal disorders in man. The neurofibromas originate from the fibrous connective tissue sheaths of small nerves. The multiple fibromas are rarely found in the urinary tract, the bladder being the most commonly affected part.According to a report by Hulse C.A the cases of neurofibromatosis with bladder involvement amount to about 38 (1). Only 3 cases of malignant change of a neurofibroma in the urinary tract have been described in the literature (2).In our case the patient underwent surgery and at histological examination the lesion was consistent with a neurofibrosarcoma grade 3 that infiltrated the better part of the bladder wall, the ovaries and the properitoneal fat. Microscopic invasion of the uterus was documented, thus accounting for the vaginal bleeding.Neurofibromas undergo malignant transformation in about 5% of cases. Clinical suspicion of malignant transformation should be raised if there is progressive enlargement and pain related to a mass. The differential diagnosis of an infiltrating pelvic mass in a young female patient should include a germ cell of the ovaries, such as dysgerminoma, immature teratoma, yolk sac tumor, embryonal carcinoma and choriocarcinoma.
Differential Diagnosis List
Neurofibrosarcoma of the bladder
Final Diagnosis
Neurofibrosarcoma of the bladder
Case information
URL: https://www.eurorad.org/case/500
DOI: 10.1594/EURORAD/CASE.500
ISSN: 1563-4086