Neurofibromatosis type 1 with bladder involvement

Abstract

Neurofibromatosis type 1 is an autosomal dominant transmitted disease with various clinical manifestations. The bladder is the most commonly affected organ in the genitourinary system. The malignant transformation of the disease is rare, and unlike malign tumors, the treatment option for benign disease is usually conservative. The size and localization of the mass determine the symptoms, most of which are usually not specific. In this paper, we aim to present a 15-year-old patient with neurofibromatosis type 1 with bladder involvement. The clinical presentation and treatment options of this disease are discussed in the light of the literature.

Figure 1

Intravenous pyelography of the patient before operation. A large filling defect can be seen in the bladder (a). A CT image showing a heterogeneous, contrast enhancing mass at the posterior wall of the bladder extending through the ureteral orifices (b). Five years after operation. CT image shows no radiological evidence of the disease (c).

Figure 2

Gross specimen of partial cystectomy showing a diffuse infiltrative mass in the wall of the bladder (a). Light microscopy showed a moderately cellular lesion composed of spindle cells with poorly defined, palely eosinophilic cytoplasm and tapering nuclei, admixed with mononuclear inflammatory cells H&E ×100 (b). Immunostaining showing diffuse and strong positivity of the lesion with S-100 protein, streptavidine biotin peroxidase ×100 (c).