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Re: ‘Diffuse ganglioneuromatosis and plexiform neurofibroma of the urinary bladder: An uncommon cause of severe urological disease in an infant’. J Pediatr Urol. 2013 Apr; 9(3):e131–e133

      We read with interest the article by Salvitti et al. [
      • Salvitti M.
      • Celestino F.
      • Gerocarni Nappo S.
      • Caione P.
      Diffuse ganglioneuromatosis and plexiform neurofibroma of the urinary bladder: an uncommon cause of severe urological disease in an infant.
      ]. As stated by the authors, visceral involvement is typically insidious, progressive, and difficult to treat. It has been theorized that the plexiform neurofibroma involving the bladder is derived from the vesicoprostatic plexus in males and the urethrovaginal plexus in females [
      • Pessin J.I.
      • Bodian M.
      Neurofibromatosis of the pelvic autonomic plexuses.
      ]. Variable involvement of different segments of the plexus translates into a variable constellation of symptoms and signs that arise as neurofibromas enlarge, compressing and distorting local structures. The unpredictable nature of plexiform neurofibromas has a serious impact on the quality of life of patients with neurofibromatosis type 1(NF1), and their management is challenging for clinicians. Ultimately, the most damaging effect of the tumor is obstruction of the bladder neck or the lower ureter, resulting in unrecognized, progressive renal impairment. This was typified by the case presented by the authors. Most patients with plexiform neurofibroma of urinary tract will eventually develop severe refractory symptoms and require surgery as stated by the authors. However, long-term outcome of surgical management has been disappointing, especially in children with expanding and symptomatic plexiform neurofibromatosis, who must bear the burden of plexiform growth for a lifetime. The contribution of pulmonary arterial hypertension (PAH) that can occasionally complicate plexiform neurofibromatosis and add to high mortality in individual with plexiform neurofibromatosis merits an exploration. Our experience with a 9-year-old girl with plexiform neurofibroma of the genitourinary system (vulva, urinary bladder, and uterus) associated with pulmonary hypertension that was asymptomatic for 9 years but later presented with urinary retention, hypertension, and cardiac failure illustrates this fact [
      • Nasir A.A.
      • Abdur-Rahman L.O.
      • Ibrahim K.O.
      • Adegoke M.A.
      • Afolabi J.K.
      • Adeniran J.O.
      Genitourinary plexiform neurofibroma mimicking sacrococcygeal teratoma.
      ].
      PAH in patients with NF1 is hypothesized to be secondary to an underlying vasculopathy [
      • Stewart D.R.
      • Cogan J.D.
      • Kramer M.R.
      • Miller Jr., W.T.
      • Christiansen L.E.
      • Pauciulo M.W.
      • et al.
      Is pulmonary arterial hypertension in neurofibromatosis type 1 secondary to a plexogenic arteriopathy?.
      ]. NF1-associated vasculopathies are heterogeneous and appear to contribute to the mortality of children and young adults [
      • Stewart D.R.
      • Cogan J.D.
      • Kramer M.R.
      • Miller Jr., W.T.
      • Christiansen L.E.
      • Pauciulo M.W.
      • et al.
      Is pulmonary arterial hypertension in neurofibromatosis type 1 secondary to a plexogenic arteriopathy?.
      ].
      The prognosis of patients with von Recklinghausen disease can be generally good except when complicated by pulmonary hypertension [
      • Stewart D.R.
      • Cogan J.D.
      • Kramer M.R.
      • Miller Jr., W.T.
      • Christiansen L.E.
      • Pauciulo M.W.
      • et al.
      Is pulmonary arterial hypertension in neurofibromatosis type 1 secondary to a plexogenic arteriopathy?.
      ]. All four patients with PAH reported by Stewart et al. [
      • Stewart D.R.
      • Cogan J.D.
      • Kramer M.R.
      • Miller Jr., W.T.
      • Christiansen L.E.
      • Pauciulo M.W.
      • et al.
      Is pulmonary arterial hypertension in neurofibromatosis type 1 secondary to a plexogenic arteriopathy?.
      ] died of either respiratory failure or presumed cardiac failure. The 9-year-old girl we reported also died of cardiac failure [
      • Nasir A.A.
      • Abdur-Rahman L.O.
      • Ibrahim K.O.
      • Adegoke M.A.
      • Afolabi J.K.
      • Adeniran J.O.
      Genitourinary plexiform neurofibroma mimicking sacrococcygeal teratoma.
      ]. Pulmonary hypertension is therefore a major determinant of the morbidity and mortality in patients with von Recklinghausen disease. The patient presented by the authors will therefore benefit from further evaluation and monitoring to exclude pulmonary hypertension or detect it early for an improved long-term outcome.

      References

        • Salvitti M.
        • Celestino F.
        • Gerocarni Nappo S.
        • Caione P.
        Diffuse ganglioneuromatosis and plexiform neurofibroma of the urinary bladder: an uncommon cause of severe urological disease in an infant.
        J Pediatr Urol. 2013; 9: e131-3
        • Pessin J.I.
        • Bodian M.
        Neurofibromatosis of the pelvic autonomic plexuses.
        Br J Urol. 1964; 36: 510-518
        • Nasir A.A.
        • Abdur-Rahman L.O.
        • Ibrahim K.O.
        • Adegoke M.A.
        • Afolabi J.K.
        • Adeniran J.O.
        Genitourinary plexiform neurofibroma mimicking sacrococcygeal teratoma.
        J Surg Tech Case Report. 2012; 4: 50-52
        • Stewart D.R.
        • Cogan J.D.
        • Kramer M.R.
        • Miller Jr., W.T.
        • Christiansen L.E.
        • Pauciulo M.W.
        • et al.
        Is pulmonary arterial hypertension in neurofibromatosis type 1 secondary to a plexogenic arteriopathy?.
        Chest. 2007; 132: 798-808

      Linked Article

      • Diffuse ganglioneuromatosis and plexiform neurofibroma of the urinary bladder: An uncommon cause of severe urological disease in an infant
        Journal of Pediatric UrologyVol. 9Issue 3
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          Neurofibromatosis of the urinary tract occurs infrequently: fewer than 70 cases with bladder involvement have been reported to date and of these, only 25 cases occurred in the pediatric population. We describe an unusual case of plexiform neurofibroma and diffuse ganglioneuromatosis of the bladder in a small infant, diagnosed with neurofibromatosis 1 (NF1) at 3 months of age. At the moment, there are no established criteria for the treatment of this rare lesion. Due to the high morbidity, although not very common, bladder involvement should be considered in infants with NF1.
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      • Response to Nasir et al.
        Journal of Pediatric UrologyVol. 10Issue 1
        • Preview
          We sincerely appreciate the comments made by Nasir et al. regarding our paper. The aim of our article was to focus the attention on the involvement of the urinary bladder in patient with NF1.
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