Diffuse ganglioneuromatosis and plexiform neurofibroma of the urinary bladder: report of a pediatric example and literature review

Scheithauer, Bernd W.; Santi, Mariarita; Richter, Eric R.; Belman, Barry

doi:10.1016/j.humpath.2008.02.019

Cited by 34 publications

(26 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…These 2 locations are associated in 50% of cases [9]. The sex ratio was 1.7: 1 for males and the main clinical symptoms were recurrent UTIs, urinary retention and/or fecal impaction, hematuria [4], or less frequently deformation of the external genitalia [13]. In our series, as in the literature, there is no correlation between tumor volume and clinical symptoms.…”

Section: Discussionmentioning

confidence: 51%

“…Because of the rarity of this disease, especially in case of bladder involvement, there is no recognized follow-up or treatment protocol available [4, 25]. On the basis of our experience, we recommend participation of a multidisciplinary team including rehabilitation physicians, pediatric urologists, pediatric nephrologists, neurosurgeons, pediatric orthopedists, oncologists, and radiologists to discuss both modalities of follow-up and therapeutic indications in case of complication.…”

Section: Discussionmentioning

confidence: 99%

“…Its incidence is estimated to be one in 3,000–5,000 live births [1, 4]. Among its diverse phenotypic expressions [1, 2] are cutaneous signs, such as café-au-lait spots, and development of nervous tumors, known as neurofibromas.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Bladder Dysfunction in Children with Neurofibromatosis Type I: Report of Four Cases and Review of the Literature

Bouty¹,

Dobremez²,

Harper³

et al. 2018

Urol Int

View full text Add to dashboard Cite

Aim: Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder. Malignant transformation into malignant peripheral nerve sheath tumors (MPNST) can occur. However, urinary tract involvement is rare. We report 4 cases of NF1 with bladder dysfunction. Methods: A retrospective single center analysis of 4 patients was conducted over a 17-year period, focusing on urinary tract involvement. Results: NF1 was diagnosed at a median of 16.5 months (4–36) and urinary involvement occurred at a median of 5.25 years (4–9) after diagnosis. Bladder dysfunction was due to spinal cord compression in 2 cases, bladder invasion in 1 case, and cerebral lesions in 1 case. Malignant transformation of neurofibromas into MPNST occurred in 2 patients. Mechanisms of urinary involvement in NF1 are diverse and no pre-established protocol of management and follow-up exists. Conclusion: Although rare, dysfunction of the bladder can arise in NF1 and innovative strategies then need to be considered. This is best achieved with the help of a multidisciplinary team and a national reference center when available.

show abstract

Section: Discussionmentioning

confidence: 51%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Bladder Dysfunction in Children with Neurofibromatosis Type I: Report of Four Cases and Review of the Literature

Bouty¹,

Dobremez²,

Harper³

et al. 2018

Urol Int

View full text Add to dashboard Cite

show abstract

“…Bladder neurofibromatosis may present as a diffuse infiltrative process or an isolated neurofibroma. The symptoms vary, ranging from urinary incontinence to retention [10,14,15]. We are not aware to the best of our knowledge of any case of vesicovaginal fistula that resulted from neurofibromatosis with bladder involvement.…”

Section: Introductionmentioning

confidence: 97%

“…Neurofibromas of the genital tract are commonly found in the vulva, clitoris and labia but rarely found in vagina, cervix, endometrium and myometrium [13][14][15]. Bladder neurofibromatosis may present as a diffuse infiltrative process or an isolated neurofibroma.…”

Section: Introductionmentioning

confidence: 99%

Spontaneous Vesicovaginal Fistula in Neurofibromatosis: A Case Report

Ekwedigwe¹,

Adeoye²,

Daniyan³

et al. 2017

Gynecol Obstet

View full text Add to dashboard Cite

Background: Neurofibromatosis type 1 is an autosomal dominant transmitted disease with various forms of clinical presentation. It commonly affects the skin and the nervous system. Involvement of the genitourinary system is rare. The bladder is the most commonly affected organ in the urinary system. Vesicovaginal fistula presenting as continuous leakage of urine per vagina is a rare urogenital manifestation of neurofibromatosis which has not been previously reported to the best of our knowledge. Vesicovaginal fistula is not a usual complication of urethral catheterization. Our aim is to report a rare case of vesicovaginal fistula in a patient with neurofibromatosis.

show abstract

Pelvic Mass After Prostatectomy

et al. 2014

View full text Add to dashboard Cite

A 66-year-old man was doing well 6 months after robotic radical prostatectomy for prostatic carcinoma and synchronous left radical nephrectomy for renal cell carcinoma. However, on surveillance computed tomography, he was noted to have a new pelvic mass that was concerning for a recurrent malignant neoplasm. He denied having pelvic pain, urinary symptoms, or bowel symptoms. His prostate-specific antigen level was undetectable. Subsequent magnetic resonance imaging revealed a heterogeneously enhancing mass within the prostatic bed, which had central necrosis ( Figure). The mass measured 4.8 × 5.5 × 5.0 cm and was contiguous with the right obturator internus. No appreciable lymphadenopathy was noted. Computed tomography-guided biopsy revealed spindle cells with a low mitotic index. Of note, the patient's son has a history of neurofibromatosis 1. The result of immunohistochemical staining was diffusely positive for desmin and smooth muscle actin, as well as focally positive for pan-keratin and S100. The staining result was negative for CD34 and CDK4. Fluorescence in situ hybridization failed to demonstrate MDM2 (OMIM 164785) gene amplification. Magnetic resonance imaging of the pelvis reveals a large heterogeneously enhancing mass within the prostatic bed. Axial (A and B) and sagittal (C and D) views reveal that the mass has T1 isointensity to hypointensity and T2 hyperintensity, suggesting internal areas of necrosis. A marked mass effect is seen on the anterior-inferior bladder, which displaces the bladder superiorly. The mass is contiguous with the right anterior aspect of the obturator internus and with the inner cortex of the midline superior pubic rami, which demonstrate erosion of the midline but no appreciable enhancing marrow signal.

show abstract

Diffuse ganglioneuromatosis and plexiform neurofibroma of the urinary bladder: report of a pediatric example and literature review

Cited by 34 publications

References 13 publications

Bladder Dysfunction in Children with Neurofibromatosis Type I: Report of Four Cases and Review of the Literature

Bladder Dysfunction in Children with Neurofibromatosis Type I: Report of Four Cases and Review of the Literature

Spontaneous Vesicovaginal Fistula in Neurofibromatosis: A Case Report

Pelvic Mass After Prostatectomy

Contact Info

Product

Resources

About