We studied 42 consecutive patients with spina bifida to ascertain the urological relevance of the tethered spinal cord in this condition. We evaluated 35 patients before untethering and 21 with pathological findings after untethering. The main difference after untethering was an increase in bladder capacity in 10 of 17 patients. The general clinical condition improved in 13 patients, was stable in 5 and became worse in 3.
We report on a macrosomic newborn girl with albinism, a black lock at the right temporo-occipital region, and retinal depigmentation. Bilateral deafness was confirmed by brainstem auditory-evoked potentials. In addition, the infant had a severe defect of intestinal innervation. Biopsy showed aganglionosis of the large intestine, and total absence of neurocytes and nerve fibers in the small intestine, indicating a total lack of sympathetic and parasympathetic innervation. The infant died of intestinal dysfunction at 5 weeks. She was the 14th child of consanguineous Kurdish parents. Four sibs of our patient had the same syndrome and died a few days after birth. The other 9 sibs are well, with an unremarkable phenotype. A syndrome of albinism, black lock, deafness, and a total lack of intestinal neural innervation has not yet been reported. It represents a new neural crest syndrome with autosomal-recessive inheritance.
We report 2 cases of sarcoidosis with extrapulmonary manifestations in the testis, epididymis and spermatic cord. Each patient presented with an intrascrotal mass of unknown origin that suggested a testicular tumor. Sarcoidosis was confirmed in case 1 by radical orchiectomy and further small sarcoid foci were detected in 1 of the lacrimal glands. In case 2 sarcoidosis was confirmed by biopsy and there were no further extrapulmonary indications. Both cases were stage II disease so no specific therapy was applied. The patients were without signs of progression at 2 and 10 years, respectively, after initial diagnosis.
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