Bladder plexiform neurofibroma (PN) is a rare disease entity that is challenging to treat. We report a 4 year old male child who had presented with a suprapubic abdominal swelling and irritative voiding symptoms of one year duration. The child had a palpable suprapubic mass, multiple café au lait macules over his body. The father had similar skin lesions. Imaging revealed diffuse asymmetric thickening of the bladder wall. The diagnosis was confirmed by immunohistochemistry. Selumetinib was offered as a treatment option.
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Abebe et al. (2024) studied this question.
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