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Query: UMLS:C0677481 (urinary frequency)
 1,126 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:[A case of Noonan syndrome with neurogenic bladder]. 147 62

Two Japanese male siblings, aged 68 and 59 years, affected by late-onset progressive ataxia distinguished by extensive sensory and mild autonomic disturbances are described. They had global thermoanalgesia, positive Romberg signs, sensorineural deafness, canal paresis and ageusia. Their autonomic disturbances consisted of absence of overflow tears with usual stimuli, dysphagia, blood pressure and vasomotor instability, diarrhoea/constipation, and urinary frequency. Sensory nerve action potentials were completely absent, whereas motor conduction velocity was slightly reduced only in the lower extremities. Sural nerve biopsy on the younger brother demonstrated a marked loss of myelinated fibres and a reduction in the number of unmyelinated axons. Tongue histology revealed absence of fungiform papillae and taste buds. Autonomic function tests showed widespread but mild sympathetic and parasympathetic failures. Neuro-imaging studies revealed atrophy of the spinal cord, cerebellum, brainstem and corpus callosum, and enlargement of the lateral, third and fourth ventricles. These siblings represent a previously unrecognized variant of late-onset hereditary spinocerebellar degeneration with global thermoanalgesia and absence of fungiform papillae on the tongue.
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PMID:Late-onset hereditary ataxia with global thermoanalgesia and absence of fungiform papillae on the tongue in a Japanese family. 867 78