[A case of Noonan syndrome with neurogenic bladder]

We report a case of Noonan syndrome with neurogenic bladder. The patient was a 33-year-old man with a chief complaint of difficulty in urination, urinary frequency, and incontinence of urine. He had also various malformations, as deformities of the face, skull and hard palate, webbed neck, nail abnormality, edema of the lower extremities, contraction of visual field, deafness, malrotation of the intestine and so on. The case was diagnosed as Noonan syndrome because his karyotype of chromosome was 46, XY. Malformations of the urogenital organs were mild malrotation of bilateral kidneys, a right renal cyst, left cryptorchidism and pseudo phimosis. The uroflowmetrogram of the case showed a saw-like and flat pattern, with urination starting by tapping lower abdomen by himself. The cystometry and electromyogram of the external sphincter revealed neurogenic bladder with uninhibited contraction and detrusor-external sphincter dyssynergia. This is the first case of Noonan syndrome with neurogenic bladder.